contents

RESEARCH REPORT 1999

03 FOREWORDS

07 RESEARCH OFFICE AND COMMITTEES

11 PROJECTS

12 MOLECULAR MEDICINE AND GENETICS

23 BRAIN AND NERVOUS SYSTEM

22 GASTROINTESTINAL SYSTEM AND LIVER

26 HEART AND BLOOD VESSELS

27 IMMUNE SYSTEM AND INFECTIOUS DISEASE

31 KIDNEYS AND BLADDER

36 LUNGS AND CONTROL OF BREATHING

38 BONES, JOINTS, MUSCLES AND SKIN

41 CANCER AND LEUKAEMIA

46 DIABETES AND METABOLISM

47 CRITICALLY ILL CHILD

53 DEVELOPMENT AND BEHAVIOUR

60 POPULATION HEALTH

69 STAFF

78 STUDENTS

80 FUNDING

85 PUBLICATIONS

100 INDEX OF DEPARTMENTS

102 ACKNOWLEDGEMENTS

02
 forewords
RESEARCH REPORT 1999

Name - Cemre. Age 5.

“I like looking at the stars. When I get bigger I might
fly to the moon”

03
 forewords
RESEARCH REPORT 1999
The Hospital’s reason for being is to help sick children get well and to assist them in receiving
better health. In the current climate of funding constraint in health, the solution to some would
appear simple – cut back on all expenditure which is not seen as ‘bedside care’. To do this in
teaching and research would cut directly across our beliefs and commitments. This year’s
Research Report demonstrates again that research is a vital part of the Hospital’s work.

Mr John Dunlop
PRESIDENT

A Children’s Hospital, where clinicians and researchers work closely together, is the ideal place
for finding the answers to children’s diseases which do not yet have cures.

This is why the Hospital invests heavily in research, because we know it is an essential
component of the Hospital’s role in ‘making sick children get better’.

The growing size and strength of our research effort is shown by the large number of peer
reviewed publications, our competitive research grants, the many postgraduate students and
particularly by the increasing collaboration between different Hospital departments, as well as
the growing cooperation with our colleagues at the Children’s Medical Research Institute and at
Westmead Hospital’s Research Institute.

It is good that our research has reached the stage of maturity which allows collaboration
between different research groups. We are also discussing with the Children’s Medical
Research Institute how we and they can increase cooperation and collaboration, recognising
that both research groups have much to offer. In the end, this can only be to the benefit of the
children who are the focus of our research efforts.

Prof Kim Oates

CHIEF EXECUTIVE OFFICER

The Department of Paediatrics and Child Health remains actively involved in a broad range of
research activities both as independent researchers and in collaboration with other strong
research units, both within the hospital and externally.

Associate Professor Elizabeth Elliott has two major research interests. Firstly, an active rare
disease surveillance reporting scheme (APSU). This involves all paediatricians in Australia and
is proving to be highly successful in documenting important trends in these rarer conditions.
Dr Elliott is also involved in an ongoing NHMRC funded project with the Department of
Gastroenterology on the microvascular changes in E. coli colitis.

04
 forewords
RESEARCH REPORT 1999
Associate Professor Louise Baur’s major research activities are in the areas of childhood
nutrition. In particular, the biochemistry and epidemiology of obesity and a number of exciting
studies on muscle membrane lipids in young children with a family history of insulin resistance.

Dr Kathy North is rapidly expanding her neurogenetics and neuromuscular research activities.
Her laboratory studies are closely linked with her extensive clinical studies of neuromuscular
diseases and neurofibromatosis. Dr North is actively involved in a number of large collaborative
studies including extensive genetic epidemiologic studies in conjunction with several
international research groups.

Professor Craig Mellis’ major research interest is in the area of asthma, particularly primary
prevention of this condition. He is a chief investigator in a large randomised controlled trial,
funded by the NHMRC, which is determining whether or not asthma can be prevented in infants
at high risk. This trial is currently well underway with recruitment and randomisation of the
babies into four different treatment arms. Professor Mellis is also involved in a number of other
pulmonary research activities (in both asthma and cystic fibrosis) together with an ongoing
research interest in the role of evidence-based medicine in paediatrics and child health.

Prof Craig Mellis

DOUGLAS BURROWS PROFESSOR OF PAEDIATRICS AND CHILD HEALTH

The Year in Research

The past year has been a major milestone for research in our Hospital. We now have a Division
of Research, which is responsible for coordinating and administering our research efforts. This
change in organisation has also seen a change in leadership. I wish to pay special thanks to Dr
John Knight for his contribution to building research as Research and Development Manager
over the last five years. John was responsible for creating an efficient research management
system, which has greatly facilitated the transition of research into a Division.

Our success in attracting external peer-reviewed research grant support has continued to grow.
Substantial grants from Australia’s most prestigious granting body, the National Health and
Medical Research Council (NH&MRC), were awarded in areas as diverse as preventing asthma
in the community (Jenny Peat), establishing the importance of antibiotic treatment for renal
reflux (Jonathan Craig), and identifying the role of novel genes involved in cancer (Jenny Byrne).
Additional support came from our collaborative involvement in projects involving respiratory
physiology (Peter Cooper) and the muscle disease, nemaline myopathy (Kathryn North). In
addition, six more of our PhD students (Maria Craig, Julie Hughes, Jacqui Dalby-Payne, Justin
Percival, Anish Singh and Helen Woodhead) were awarded NH&MRC post-graduate
scholarships.

05
 forewords
RESEARCH REPORT 1999
In addition to these successes, three new research units were established in the last year.
Cheryl Jones returned from Boston and took up her position as the recipient of the Research
Career Development Award. She has established a new laboratory investigating new vaccine
strategies. Karen McKay has been appointed to lead the newly created Children’s Chest
Research Centre, funded primarily from proceeds from the Teddy Bear’s Picnic, which is
pursuing both laboratory and epidemiological approaches to respiratory physiology. Dr Alison
Kesson, the newly appointed Head of the Department of Virology, will continue her study of
flaviviruses in a new laboratory. We welcome our new researchers with great enthusiasm and
look forward to their contributions to our research program.

It is most pleasing to report that many of our publications are appearing in high quality journals.
1998 saw publications in Journal of Clinical Investigation, Oncogene, Diabetes, American
Journal of Human Genetics, Journal of Biological Chemistry, Journal of Virology, Blood, Journal
of Immunology, Annual Review of Cell and Developmental Biology and Bioessays. All these
journals have an impact factor of greater than 5.0, which is an important measure of the
quality of the papers we publish. It is also pleasing to see that a number of these publications
involve collaborations between research groups within our Hospital and also with researchers
at the Children’ Medical Research Institute and Westmead Hospital, both our close neighbours.
It is to be expected that such collaborative initiatives will continue to grow, particularly with our
neighbouring institutions. This sense of collaboration should extend to sharing of technologies
and coordination of funding for major items of equipment.

Our continued growth places great demand on our ability to house and administer research. We
are very lucky to have in place a first class Research Office that keeps the wheels quietly
running. Anne O’Neill as Research and Development Manager and Kathryn Hancox as Research
Operations Manager ensure the smooth running of the Division. We are all grateful to Reegan
Oxley, Liz Jayawardene, Patricia McGregor, Troy James and Hao-Xu Lui for their support. We
are also very grateful to Drs Luana Ferrara and Ross Matthews for access to their animal
facilities at the Children’s Medical Research Institute and Westmead Hospital, respectively.

Looking to the future, we are in the process of developing a strategic plan for research in the
Hospital. Central to our plan is the recognition that we need to create dedicated research teams,
which will serve as core research centres. These centres will drive our research programs and
will provide the principal research interface with many of our clinical health researchers. It is
clear that clinical health researchers are the key to turning research into medicine. On the one
hand, they are involved in the identification of important health research problems, and on the
other hand play a crucial role in changing health practice based on research analysis.

The future belongs to those who can bring together the appropriate researchers and health care
professionals to attack and solve our major health problems. Turning our research into
medicine will increasingly become a reality. Our children should accept nothing less from us.

Prof Peter Gunning

CHAIR, DIVISION OF RESEARCH

06
 research office & commitees
RESEARCH REPORT 1999

Name - Bianca. Age 4.

“I want to drive a police car when I get bigger,
and make the siren really loud.”

07
 research office & committees
RESEARCH REPORT 1999
Research and Committees Ethics Committee
This Committee is responsible for
Development Office Research Committee protecting the rights and welfare of
children involved in research
The role of this Committee is to procedures and determines whether
The main functions of the Research promote an inquiring approach to
and Development Office are to the potential risk to any partici-
the problems of children and to pants in the research is outweighed
support research staff, to improve advise the Board on the use of
the quality and quantity of research by the potential benefit.
research funds.
in the Hospital and to monitor and Chair
report research undertaking in the Chairman
Mr John Dunlop Prof Peter Rowe
Hospital. The Research and Devel-
opment Office also aims to develop Secretary
Secretary Dr John Knight (until May 1998)
and implement the Research and
Prof Kim Oates Ms Anne O’Neill (from May 1998)
Development Strategic Plan and
serve the Division of Research in
Members Community Members
an administrative and operational
Prof Jeff Bailey Laypeople not affiliated with
capacity.
Prof Tony Cunningham (from the institution
August 1998) Ms Ann Atkinson (until June 1998)
The Research Office is currently
Prof Peter Gunning Mrs Ruth Burleigh (from August
comprised of the following staff:
Dr John Knight (until May 1998) 1998)
Prof Craig Mellis Mr Rod Young
Prof Peter Gunning, BSc(Hons)
Miss Jan Minnis
PhD, Chair of the Division of Board Representative
Prof Sue Nagy
Research Prof Kim Oates
Dr Ken Nunn
Anne O’Neill, BSc(Hons), Research
A/Prof John Overton
and Development Manager Lawyer
A/Prof Peter Procopis
Kathryn Hancox, BSc MSc, Mr Ian Butcher
Prof Peter Rowe
Research Operations Manager
Prof John Young (until May 1998) Minister of Religion
Reegan Oxley, Secretary
Liz Jayawardene, Receptionist Mrs Vera Ryan
In Attendance
Patricia MacGregor, Laboratory Research Members
Ms Anne O’Neill
Assistant Medical Research
Troy James, Animal Technician Prof Peter Gunning
(Team Leader)
Hao-Xu Lui, Animal Technician Surgical Research
Jodi Gero, Animal Technician A/Prof Danny Cass (from August
1998)
Nursing Research
Prof Sue Nagy
Allied Health Research
Ms Alison Moore (from August
1998)
Representative of CMRI
Dr Roger Reddel
Hospital Management
A/Prof Peter Procopis
Miss Jan Minnis

08

Scientific Advisory
Committee
Research which is unscientific is
never ethical. This Committee
reviews the scientific validity of all
research proposals and advises the
Ethics Committee. If a protocol
does not pass the test of scientific
validity, then it is not considered by
the Ethics Committee.
Chair
Prof Kevin Gaskin
committees
RESEARCH REPORT
Form Review Committee
Research on humans is only ethical
if it is undertaken with the
informed consent of the parent,
guardian or, where appropriate,
child. The written explanation of
the nature and risks of the research
and the consent form itself must be
in straightforward and readily
understandable language. The
Form Review Committee reviews
these forms and advises the Ethics
Committee.
1999
Children’s Hospital Fund
Annual Grants Scheme
This scheme is modelled closely on
the NH&MRC Project Grant sys-
tem except that there are no inter-
views. Funding is provided by
research donations.
Chair
Prof Kevin Gaskin
Acting Chair
Prof Craig Mellis

Secretary Members Secretary

Dr John Knight (until May 1998) Ms Ann Atkinson (until June Dr John Knight (until May 1998)
Ms Anne O’Neill (from May 1998) 1998) Ms Anne O’Neill (from May 1998)
Mr Ian Butcher
Members Dr John Knight (until May 1998) Members
Dr Ian Alexander Ms Alison Moore(from August Dr Ian Alexander
Prof Jeff Bailey 1998)
Prof Jeff Bailey
A/Prof Danny Cass (from April Ms Anne O’Neill
Mrs Vera Ryan A/Prof Danny Cass (from April
1998)
Dr Jonathan Gillis 1998)
Prof Peter Gunning Dr Jonathan Gillis
A/Prof Cecelia Lau Prof Peter Gunning
Prof Craig Mellis A/Prof Cecelia Lau
Prof Sue Nagy Prof Sue Nagy
Dr Jenny Peat
Dr Ken Nunn
Prof Peter Rowe
Dr Jenny Peat
Prof Peter Rowe

External Members
A/Prof Trish Davidson, John Hunter
Hospital
Prof Roger Dean, Heart Research
Institute
Prof Andrew Kemp, Royal
Children’s Hospital Melbourne
A/Prof Susan Quine, University of
Sydney

09
 committees
RESEARCH REPORT 1999
Children’s Hospital Fund CMRI/NCH Joint Animal CMRI/NCH Joint
Small Grants Scheme Ethics Committee Institutional Biosafety
The Small Grants Scheme has been This Committee reviews all propos- Committee
running for five years, with three als for research involving experi- This Committee oversees work
rounds a year, and is targeted mental animals at the New with recombinant DNA.
specifically at nurses, allied health Children’s Hospital and at the
professionals, scientific officers Children’s Medical Research Chair
and house staff in order to nurture Institute. The Committee’s mem- Prof Peter Rowe
and encourage research in these bership conforms to the relevant
areas. This scheme is also funded statutory guidelines and reports to Secretary
by research donations. the NCH Ethics Committee. Dr Ian Alexander

Chair Convener Members

Dr John Knight (until March 1998) Dr Peter Jeffrey A/Prof John Christodoulou
Prof Jeff Bailey (from March 1998) Mr Greg Craig
Members Dr Elizabeth Deane
Secretary Ms Luana Ferrara Dr John Knight (until May 1998)
Ms Anne O’Neill A/Prof David Isaacs Mr John Symonds
Mr Richard Jones Dr Roger Reddel
Members Dr John Knight (until May 1998)
Dr Lesley Adés (from May 1998) A/Prof John Overton
Dr Barbara Blades (until March Prof Peter Rowe
1998) Ms Tanya Stephens
Prof Peter Gunning
A/Prof Cecelia Lau In Attendance
Mr Bruce Lord (until March 1998) Ms Kathryn Hancox
Prof Craig Mellis (until November
1998)
Prof Sue Nagy
Dr Jenny Peat
Dr Rahdika Santhanam (from May
1998)
Mr Andrew Williams (from May
1998)

10
 projects
RESEARCH REPORT 1999

Name - Nick. Age 7.

“When I’m bigger I want to be a fireman. I would
drive the big fire engine and use the hose to put
out fires”

11
 projects
RESEARCH REPORT 1999
over 10 million people will have focussing on the use of gene thera-
Molecular Medicine died from the associated AIDS. py to treat solid tumours. Our
and Genetics Despite intense research over more strategy is to modify human
than 10 years since the virus was tumour cells to enhance their
discovered, there is no vaccine, and recognition and rejection by the
Gene Therapy Research the currently available drugs only immune system. By introducing
temporarily limit disease progres- specific genes into human tumour
Unit
sion. Our study is designed to test cells we can render them suscepti-
a new strategy for the treatment of ble to recognition by specialised
Gene Transfer Technology
HIV infection and AIDS that is immune cells called T-lymphocytes.
Program
based on gene therapy. This proj- Once activated, these tumour-spe-
A Turnbull, J Diao, J Dean, T
ect involves introducing a synthetic cific T-lymphocytes are capable of
Trahair, A Khatri, PB Rowe, JA
gene into cells that are normally killing both the gene-modified
Smythe, IE Alexander
infected by HIV, which will stop the tumour cells, and any additional
growth and spread of the HIV virus. unmodified tumour cells that they
The potential of gene therapy as an
These experiments are designed to encounter. In essence, the patient
approach to the treatment of dis-
evaluate any toxicity, and provide will have been immunised against
ease is immense, but at present
'proof of principle' for the thera- the cancer. The technology that we
largely unrealised. The main obsta-
peutic application of gene therapy will use to deliver the specified
cles to progress are technical
for the treatment of AIDS. The genes to tumour cells has already
rather than conceptual. We under-
research will provide valuable pre- been established, and proven suit-
stand a great deal about genes and
clinical data by direct comparison able for gene transfer to cancer
the critical role they play in the
of several anti-HIV gene therapy patient's in other clinical trials in
normal growth, development and
strategies, and could significantly the U.S. Our task is to experimen-
functioning of our bodies. We
influence our approaches to the tally define the most appropriate
understand how faults in genes
future treatment of HIV-1 infection gene(s) for delivery, the optimal
cause illness, why faults in differ-
in patients. conditions for gene expression, and
ent genes cause different patterns
compile sufficient data to justify
of illness, and in theory how
Cancer Immunotherapy the application of this strategy to
healthy copies of these same genes
Program the treatment of paediatric cancer.
could be used to treat disease. The
G Logan, J Lees, C Smyth, P Fink,
challenge is to deliver (or transfer)
M Zheng, PB Rowe, IE Alexander, Friedreich Ataxia Research
healthy genes from the test tube
JA Smythe Program
into the appropriate cells of the
J Fleming, JA Smythe, IE
body to repair genetic faults and
Spontaneous generation of cancer Alexander
recover normal function. Our
cells may be a relatively frequent
approach to this challenge is to
event in humans, but strict surveil- Friedreich Ataxia (FA) is a slow but
study the way in which viruses
lance by the body's immune system relentlessly progressive neurode-
carry genes into cells and to borrow
can result in rapid elimination of generative condition caused by
some of their tricks and strategies.
abnormal or mutant cells before inheriting a pair of faulty genes
This approach is proving to be very
progression to disease. Tumours (one from each parent) that nor-
powerful and provides the fuel that
develop on the rare occasion that mally tell certain nerve cells in the
is driving the other elements of our
one of these mutant cells avoids body how to make a protein called
research program.
elimination by the immune system Frataxin. The nerve cells most
and continues to grow unabated. affected are located along the spine
Antiviral Research Program
Since only approximately 50% of in little clusters called dorsal root
R Biti, P Fink, PB Rowe, IE
these cancers can be successfully ganglia or DRG for short. The
Alexander, JA Smythe
treated by a combination of sur- Frataxin gene was recently found
gery, radiation, and/or chemothera- and isolated thereby raising the
The World Health Organisation
py, there is a need to define alter- possibility that this currently
estimates suggest that by the year
native therapies, and gene therapy incurrable disease might one day
2000 more than 40 million people
presents a number of exciting pos- be treatable using gene therapy.
will be infected with HIV-1 and that
sibilities for the future. We are The overall aim of this research is

12

to develop strategies for delivering
healthy copies of the Frataxin gene
into the nerve cells in the DRG. To
date we have been successful in
delivering test genes into DRG
taken from mice using a harmless
modified virus called AAV. Not only
did the genes get in to the nerve
cells but were switched on and
kept working as long as we could
maintain the DRG in the laboratory
(up to 12 weeks). We are now
building on this promising result.
Immunology and
Infectious Diseases
Laboratory investigation of
suspected deficiency in
fas-mediated apoptosis in a
father and son
MG Hanlon, ML Gacis, AM
Kakakios, H Kilham
Autoimmune Lymphoprolifer-ative
Syndrome (ALPS, also known as
Canale-Smith Syndrome) is an
hereditary disease characterised by
autoimmune and haematological
abnormalities. One condition which
presenta as ALPS results from the
failure of cells to undergo pro-
grammed cell death (apoptosis). In
this study, alternative methods for
detection of cell progression to
apoptosis using Flow Cytometry,
have been developed, and have
identified at least two cases of this
rare disease.
Measurement of DNA ploidy in
malignancies, using flow
cytometric techniques
ML Gacis, M Wong, L Dalla-Pozza
A technique for the analysis of the
DNA content and cell cycle index of
malignant cells is applied to the
development of a prognostic indica-
tor. The study uses Flow Cytometric
techniques to perform these
analyses on tissues simultaneously
projects
RESEARCH REPORT
examined by the Histopathology
Department.
Measurement of plasma lipid
levels in patients on lipid
infusion, using rate
nephelometry
MG Hanlon, B Wilkins, L Baur
Plasma lipid levels may rise during
parenteral nutrition, potentially
leading to Lipid Overload
Syndrome. This project investi-
gates a rapid, simple and practical
means of measuring the plasma
lipid content of patients.
Tissue transglutaminase
antibody assay
ML Gacis, MG Hanlon
Tissue transglutaminase is report-
ed to be the antigen which is
detected in the anti-endomysial
antibody fluorescent assay. This
work involves development and
evaluation of a new assay for
autoantibodies thought to be diag-
nostic of Coeliac Disease. The
assay is an ELISA method, poten-
tially capable of significantly
greater throughput and more objec-
tivity than the immunofluorescent
antibody assay currently in use.
Intestinal Disease
Research and University
Department of Paediatrics
and Child Health
Pathogenesis of E. coli
E O'Loughlin, Z Li, M Perry, E
Elliott, P Gunning
Studies of E.coli pathogenesis
involving Enteropathogenic and
Shiga toxin producing E.coli are
performed in animal and cell cul-
ture models of infection. We have
established two major lines of
investigation: 1. The examination
of the effect of shiga toxins on the
1999
microvasculature of the small
intestinal mesentery of the rat util-
ising intravital microscopy and 2.
pathogenesis of the microbial-
epithelial interactions in a colon
cancer cell line. An invitro model
utilising cell cultures has been
established to investigate the
response of the epithelial cell to
bacterial attachment. Of primary
interest is the immune modulatory
role of the epithelium and the effect
of cytoskeletal rearrangement,
caused by the bacteria, on cell
function. We have established a
collaboration with Dr Peter
Gunning, to examine cytoskeletal
changes with E.coli infections.
Preliminary studies indicate that
enterohaemorrhagic E.coli can
cause major disruption of epithelial
cell dysfunction without forming
attaching effacing lesions or induc-
ing major disruption of the cortical
cytoskeleton. Our data suggest
that these E.coli may have patho-
genic mechanism other than those
described for typical attaching
effacing E.coli. Ongoing collabora-
tion is attempting to define these
mechanisms.
Physiology of human small
intestinal electrolyte transport
E O'Loughlin, G Pang, B Batey, R
Clancy
Studies of the effect of interleukin-
2 on epithelial transport and prolif-
eration in a novel human small
intestinal cell culture line. These
studies have demonstrated that the
proinflammatory interleukin-2
increases cellular proliferation and
upregulates chloride secretion in
the cell line. The cells exhibit a
specific interleukin-2 receptor
which when stimulated with IL-2
induces signal transduction mecha-
nisms including tyrosine phospho-
rylation and release of STAT1,3
and 5 and JNK.
13

RESEARCH REPORT
Neurogenetics Research
Unit
A new syndrome of X-linked
episodic weakness
M Ryan, P Taylor, R Ouvrier, G
Morgan, M Buckley, K North
We have recently identified a novel
neurological disorder characterised
by episodic weakness and X-linked
recessive inheritance. Linkage
analysis on this family has con-
firmed that the gene is in a 2cM
region on Xp22.3. We are now
studying candidate disease genes
in the region.
Molecular pathogenesis of
childhood muscular
dystrophies: the role of
dystrophin associated proteins
K Jones, M Mills, N Yang, S Kim,
K North
The muscular dystrophies are a
clinically and genetically heteroge-
nous group of muscle diseases.
Until recently, the underlying gene
and protein abnormalities resulting
in these disorders were unknown.
Hence definitive diagnosis, accu-
rate genetic counselling and prena-
tal diagnosis were not possible.
Over the past few years an increas-
ing number of new genes (alpha-
,beta-,gamma-and delta-sarcogly-
can and alpha2-laminin) have been
identified, each of which is respon-
sible for a subset of cases of mus-
cular dystrophy. Despite this, there
remains a group of patients (~50%)
in whom the genetic diagnosis is
unknown. During 1998 we have
studied these ‘unknowns’ with
antibodies to a number of newly
identified proteins in the muscle
membrane which are candidate
genes for primary muscle disease.
We have now identified 15 patients
with abnormalities of syntrophin
and dystrobrevin. Primary abnor-
14
projects
1999
malities of these proteins have not
yet been shown to cause human
disease. We aim to determine
whether these abnormalities are
primary or secondary by searching
mutations in the syntrophin and
dystrobrevin genes. Identification
of mutations in either of these
genes, and delineation of the asso-
ciated clinical and pathological pic-
ture will define a new neuromuscu-
lar disorder.
Nemaline myopathy: genotype-
phenotype correlation and the
development of a transgenic
mouse model
Human Study: M Ryan, C Schnell,
K North
Mouse Study: M Corbett, G
Dunglison, CS Robinson, J Joya, N
Yang, C Schnell, P Gunning, K
North, E Hardeman
Nemaline myopathy is an inherited
childhood onset muscle disease
which is characterised by the pres-
ence of nemaline bodies (rods) in
skeletal muscle. We have also col-
lected clinical and pathological
data and muscle specimens from a
cohort of over 60 human patients
with nemaline myopathy from
around Australia. We will correlate
newly identified mutational data in
these patients with their clinical
and pathological phenotype. In a
collaborative project with the
CMRI, we have developed an ani-
mal model of nemaline myopathy
by introducing a genetic defect
identified in an Australian family
into the genome of a "transgenic"
mouse. Concurrent studies and
comparison of humans and mice
will provide a unique insight into
the mechanisms underlying muscle
weakness in this disorder.
The role of alpha-actinin in the
skeletal muscle
N Yang, M Mills, K North
Alpha-actinin is a muscle protein
related to dystrophin, the protein
that is deficient in the most com-
mon form of muscular dystrophy.
As part of our studies of children
with muscle disorders we have
found that 18% of people in the
general population are deficient in
alpha-actinin-3. There is also a dif-
ference between the incidence of
the gene in different races. In the
Caucasian and Asian populations ~
one in five people are deficient in
alpha-actinin-3. However, in
African Zulus the protein is defi-
cient in only 3% of those tested.
The difference between races may
mean that where you live or how
you live decide the importance of
the gene. We are now determining
whether presence or absence of
this protein influences muscle per-
formance in the general populatio
Paediatric Intensive Care
Unit
Autoradiographic and immuno-
histochemical localisation of
receptors in the
cardiopulmonary circulation of
children with congenital heart
disease
D Schell, E Burcher, L Dias, G
Nunn, G Sholler
Whilst nitric oxide, a vasodilator,
is likely to be one component of
therapy for patients with pul-
monary hypertension, it is probable
that other chemical mediators play
a role. Other researchers have
found increased blood levels of the
potent vasoconstrictor endothelin
in some children with congenital
heart disease. This ongoing study
will determine if receptors of poten-
tial mediators of pulmonary hyper-

RESEARCH REPORT
tension (including endothelin, the
tachykinins, and aldosterone) can
be found in the cardiopulmonary
circulation of children with congen-
ital heart disease. Using fragments
of tissue removed during routine
cardiac surgery, receptors will be
evaluated using the techniques of
autoradiography and immunohisto-
chemistry. Preliminary studies
have demonstrated dense specific
binding of the endothelin-1 recep-
tor on cardiac muscle cells of the
atrium and ventricle, over the endo-
cardium and over vasa vasorum
and endothelium of the main pul-
monary artery in a subgroup of chil-
dren with congenital heart disease.
The localisation of these receptors
in the cardiopulmonary circulation
will provide an insight into the
function of these vasoactive pep-
tides in children with congenital
heart disease and may lead to the
development of novel therapies
aimed at inhibiting or enhancing
the function of these chemical
mediators. This work is part of a
PhD thesis by Leonora Dias at
UNSW.
Ray Williams Institute of
Paediatric Endocrinology,
Diabetes and Metabolism
Genetic predisposition to
diabetes microvascular
complications
Y Kao, KC Donaghue, A Chan, J
Knight, M Silink
Whilst glycaemic control and dia-
betes duration play an important
role in the development of diabetes
complications, they contributed to
less than 40% of the variation in
retinopathy in the DCCT. Other sus-
pected factors include genetic pre-
disposition. This study looks at 4
candidate genes for microvascular
complications.
projects
1999
Immunological markers of
insulin dependent diabetes
mellitus and pre-diabetes
R Laina, G Ambler, N Howard
Insulin dependent diabetes melli-
tus (IDDM) is an auto-immune dis-
ease where auto antibodies are
present in blood for months or
years prior to the onset of clinical
disease. The international stan-
dard antibody test for detecting
this form of diabetes or pre-dia-
betes has been the Islet Cell
Antibody - an indirect immunoflu-
crenence assay using human pan-
creas sections - an assay which is
time consuming, expensive and
encumbered with difficulties in
reproducibility. The present study
is examining alternate assays in
the detection of pre-diabetes and
IDDM, including anti glutamic acid
decarboxylase antibodies (antiGAD),
insulin auto antibodies (IAA) and
anti tyrosine phosphatase antibod-
ies (IA-2). These assays have all
been successfully established in
the Diabetes Research Laboratory
and have been shown to achieve
acceptable sensitivity and specifici-
ty in comparison with ICA at the
time of diagnosis of IDDM in chil-
dren.
Levels of exposure of infants to
dietary phytoestrogens
H Xiang, M He-Williams, M Silink,
SC Boyages, P McVeagh, GE
Joannou
Phytoestrogens are dietary plant
oestrogen-like hormones found
mainly in legumes, fruit and soy
food products. Isoflavonoids and
lignans form the major groups of
phytoestrogens. In humans, after
consumption of plant phytoestro-
gens, complex enzymatic metabolic
conversions occur by the microflora
in the gastrointestinal tract, result-
ing in the formation of numerous
phytoestrogens with varying
degrees of biological activities.
Epidemiological and animal studies
show that phytoestrogens have
both beneficial and detrimental
effects depending on the concentra-
tion and type of phytoestrogen
exposure. The metabolic fate of the
two major isoflavonoids daidzein
and genistein found in soy was
recently elucidated by our group
with the identification of six new
isoflavonoids. More recently the
positive identification of two new
isoflavonoid metabolites has also
been accomplished in our laborato-
ry. The new findings demonstrate
the existence of a new pathway in
the catabolism of the major
isoflavones by the intestinal
microbes for the first time. Because
of the potential oestrogenic/anti-
oestrogenic potency of these sub-
stances and implication to such
conditions as menstrual irregulari-
ty, infertility and breast cancer, a
number of research programmes
are currently underway to investi-
gate the levels and mode of metabo-
lism of isoflavonoid phytoestrogens
in pre-menopausal women and
infants exposed to high and low lev-
els of phytoestrogens. These stud-
ies will provide valuable data on the
urinary levels of isoflavonoids and
throw new light on the effects of the
different metabolites in the prefer-
ential pathways of catabolism in
humans exposed to dietary phytoe-
strogens. The identify-cation and
synthesis of a number of new
metabolites including those pub-
lished by us in 1995 provide us with
the opportunity to study the in vitro
inhibitory effects of all known
isoflavonoid metabolites and the
impact these may have on cell mor-
phology. This later study is partly
the subject of a PhD thesis and is
currently material for a number of
publications (3) and presentations
at three international conferences
overseas. The study is expected to
continue well into the year 2001.
15

RESEARCH REPORT
New steroid markers:
application to neonatal adrenal
function and disorders
M He-Williams, G Ambler, M
Silink, GE Joannou
Our earlier investigations into the
diagnosis of congenital disorders in
human neonates resulted in the
identification of new steroids
pathognomonic of adrenal steroid
dysfunction. In neonates disorders
of adrenal dysfunction such as con-
genital adrenal hyperplasia (CAH)
are life-threatening and require
early diagnosis and treatment.
Existing steroid determinants are
non-specific and are common to both
normal and disease states. Our
results, supported by other workers
in this field, show that the new
steroid markers are confined to the
disease states. Because these
markers are products of foetal tis-
sues, which are known to persist
early in life, makes these markers
unique steroid determinants for the
early diagnosis of CAH. It is the aim
of this study to produce a new and
more reliable immunoassay method
for use in newborn screening pro-
grammes for CAH. Although the
synthesis of the steroid conjugate
(hapten) for the coupling to a carri-
er protein through an oxime group
at carbon 19 (BSA-conjugate) has
been successful using 17a-hydrox-
ypregenolone as a model compound,
lack of funds has not permitted the
continuation of this study.
The role of enteroviruses in the
pathogenesis of IDDM in
children
M Craig, N Howard, M Silink,
WDR Rawlinson
IDDM is known to be a T-cell medi-
ated disease which occurs in genet-
ically susceptible individuals. This
case-control study is exploring the
relationship between enteroviral
infection at the time of diagnosis of
16
projects
1999
IDDM and genetic risk factors
including HLA subtyping.
Significantly higher rates of
enteroviral RNA positivity have
been found in IDDM children com-
pared with controls in this study to
date. A questionnaire examining
other environmental risk factors is
also being administered to cases
and controls.
Surgical Research
A study on the function of a
novel anti-Mullerian hormone
receptor in ovarian tumour
GC Yang, J Leary, D Cass
Anti-Mullerian hormone (AMH) is
produced and secreted as a circu-
lating sex hormone by immature
Sertoli cells in the testis and post-
natal granulosa cells in the ovary.
This glycoprotein causes regres-
sion of the embryonic Mullerian
duct and has been shown to exhibit
inhibiting effects on several types
of tumour cells. By using reverse
transcription PCR we found a trun-
cated MIS receptor transcript in
human ovarian tumour cells and
normal ovary (in addition to the
full-length MIS receptor tran-
script). Sequence of this new tran-
script is identical to the full-length
MIS receptor transcript except for
exons 9 and 10 which are absent in
this mRNA, suggesting it was gen-
erated by alternative splicing.
Analysis of RNA from 20 epithelial
ovarian tumours has also resulted
in demonstration of the alternate
transcript in addition to the normal
receptor transcript. However, the
relative expression of the two tran-
scripts is dramatically different in
the normal when compared with
tumour tissue. In normal tissue
the expression of the full-length
transcript is greater than the trun-
cated form and conversely in
tumour tissue the expression of
truncated transcript is much
greater than the normal transcript.
The novel receptor cDNA was
cloned in an expression vector.
Transfection studies have demon-
strated the novel receptor tran-
script could direct a receptor pro-
tein in these cells. This observation
suggests that the overexpression of
the novel MIS receptor may be
related to tumorigenesis in the
ovary. An investigation is in
progress to define the functions of
the novel MIS receptor. This study
is important in providing with a
marker for early diagnosis of pri-
mary cancer and developing MIS as
a therapeutic agent against epithe-
lial ovarian tumours.
Expression patterns of the
endothelin-B receptor gene in
the spotting lethal rat during
embryogenesis
AL Zhang, D Cass, P Tam
The endothelin-B receptor gene
plays an important role in the
development of neural crest-
derived cell lineages. Our previous
study has shown that the intersti-
tial deletion of endothelin-B recep-
tor gene contributes to the pheno-
types of aganglionosis and hypopig-
mentation in the spotting lethal rat.
To further understand the molecu-
lar consequences of the endothelin-
B receptor signal transduction
pathway we have investigated the
expression pattern of endothelin-B
receptor gene during the embryonic
development in both the mutant
and wild type spotting lethal rat.
The result of the study will lead to
further studies of the role endothe-
lin-B receptor signal system in the
development of enteric neurons in
the gut during the embryogenesis
and help us to understand the
pathogenesis of Hirschsprung's
disease.

Genetic analysis of horse lethal
white syndrome (LWFS): a
Hirschsprung's disease model
GC Yang, D Croaker, AL Zhang, P
Manglick, D Cass
LWFS is a congenital anomaly of
horses characterised by a white
coat colour and aganglionosis of
the bowel, which is analogous to
Hirschsprung's disease. We have
isolated and identified a full-length
cDNA for horse endothelin-B recep-
tor. Sequence comparison together
with the amplification-created
restriction site (ACRS) technique
revealed a dinucleotide TC to AG
mutation, which changed isoleucine
to lysine in the first transmem-
brane domain of this receptor pro-
tein. Genetic information from this
observation will bring benefits to
the understanding of domain func-
tion of endothelin-B receptor.
Identification of the gene that
modifies EDNRB induced
aganglionosis in the Spotting
Lethal rat, a Hirschsprung's
model
GC Yang, P Manglick, AL Zhang,
D Cass
Our laboratory found that intersti-
tial deletion of the endothelin-B
receptor gene in the spotting lethal
(sl) rat was responsible for agan-
glionosis. The length of agan-
glionosis induced by the defective
gene was observed to be shortened
by backcross breeding, suggesting
that an introduced genetic modifier
could compensate for the loss of
the endothelin-B receptor. This
project is designed in the first
stage to localise the gene to a chro-
mosomal subregion by linkage
analysis using fluorescent labelled
microsatellite markers. We have
identified a series of microsatellite
markers suitable for the linkage
analysis and have scanned some
target chromosomes with several
projects
RESEARCH REPORT
candidate genes. Confirmation of
the genetic locus and investigation
of the comparative gene map in
human, mouse and rat will be
undertaken to further identify the
modifier gene and define its func-
tion.
Mullerian inhibiting substance
(MIS) gene function in
development of Hirschsprung's
disease
GC Yang, R Hsu, P Manglick, D
Cass
Mullerian inhibiting substance
(MIS) {also called anti-Mullerian
hormone (AMH)} causes regression
of the Mullerian duct during male
embryogenesis. The impairment of
MIS function by either MIS defi-
ciency or receptor defects leads to
the development of persistent
Mullerian duct syndrome (PMDS),
characterised by the presence of
uterus and tubes in normal 46, XY
males. The first patient with com-
bined PMDS and HIrschsprung's
disease was reported by Professor
Cass. The patient was found to
carry a missense mutation of MIS
gene (H506Q MIS). We have
cloned normal MIS and the mutant
H506Q MIS genes into mammalian
expression vectors together with
sequences encoding viral V5 and
poly-histidine epitopes to produce
MIS fusion proteins. Expression
studies have shown H506Q MIS
protein is expressed invitro with no
obvious difference in stability com-
pared to MIS. This could provide a
simple measure to purify bioactive
MIS and H506Q MIS proteins. The
purified MIS and H506Q MIS pro-
tein will be used in an vitro model
to investigate the gene interaction
between MIS/MIS receptor and
GDNF/RET and EDN3/EDNRB.
1999
Oesophageal atresia study
J Orford, D Cass, M Glasson, P
Manglick
Oesophageal Atresia is a congeni-
tal malformation characterised by
failure of continuity of the oesopha-
gus often in association with a tra-
cheooesophageal fistula. Malformation
of other organ systems may be
present. The project includes: 1.
Animal Studies : The adriamycin
rodent model of oesophageal atre-
sia and associated malformations
have been reproduced. A dose
pathology response has been estab-
lished and the morphology of nor-
mal and abnormal embryological
development of the foregut tube is
under investigation. Studies of
apoptosis in the affected area are
being performed. 2. Human Database.
A large database of clinical cases
has been collected for ongoing clin-
ical studies.
The Institute of Pathology
Cerebrospinal fluid
neurotransmitter studies
JW Earl, CE Nath, PJ Shaw, J
Coakley
Several new methods are being
developed and introduced, to
improve detection and investiga-
tion of patients with defective neu-
rotransmitter production.
Cytokines in vertical
transmission of HIV
A Kesson
Cytokines IL-1, IL-6 and TNF-A all
increase HIV replication. Unlike
adult macrophages, placental
macrophages do not produce TNF-
A and do not support HIV replica-
tion to the same extent. This
absence of TNF-A may be partly
responsible for the low incidence of
trans-placental HIV transmission.
17

RESEARCH REPORT
Neurotransmitter investigations
of children with Attention Deficit
Hyperactivity Disorder
JW Earl, DR Dossetor, K Nunn
Preliminary results have indicated
that Serotonin Selective Reuptake
Inhibitor (SSRI) drugs alter the
levels of neurotransmitters, their
metabolites and certain cofactors
in blood and urine. The changing
response to SSRI therapy over time
in children with ADHD appears to
be physiological rather than phar-
macological. New analytical proce-
dures are being developed to inves-
tigate and monitor these changes
and improve treatment.
Purine and pyrimidine
biochemistry
JW Earl, J Coakley
Urinary levels of xanthine, hypox-
anthine and inosine are being
measured in a range of patients in
order to detect deficiencies in
purine metabolism. Further work is
being undertaken to enable detec-
tion and improve analysis of other
metabolites of the purine and
pyrimidine pathways.
Transcriptional regulation of cell
surface recognition molecules
by flaviviruses
AM Kesson
Flaviviruses cause diseases such
as Murray Valley Encephalitis and
Dengue Fever. Flaviviruses have a
unique effect upon concentrations
of certain proteins on the surface of
cells when triggering an immune
response. These effects will be
investigated in this study.
18
projects
1999
Transferrin receptor
measurements
P Beal, A Lammi, V Schlumbom
A method for measuring serum
transferrin receptor will be devel-
oped. The new assay will be used in
conjunction with iron and ferritin
analysis for investigating adoles-
cents with anorexia nervosa.
Western Sydney Genetics
Program (Academic Unit
In Medical Genetics)
Monitoring the response to
therapies in children with
mucopolysaccharidosis type I
D Sillence, M-L Freckmann
This study set out to review all
children and adults with the
lysosomal storage disorder,
Mucopolysaccharidosis type I in
NSW. The purpose of the study
was to use the review to evaluate a
protocol which could be used with
these very disabled children if they
received bone marrow transplant-
ation or enzyme replacement
therapy.
Western Sydney Genetics
Program (Biochemical
Genetics And Newborn
Screening)
Defining the optimal protocol
for the diagnosis of fatty acid
oxidation defects
K Sim, K Carpenter, J Hammond, B
Wilcken
There are at least 16 inherited dis-
orders of fatty acid oxidation
(FAOD), all rare, and most only
recently described. Clinically they
present in diverse but overlapping
ways, with either a hepatopathy, or
skeletal or cardiac muscle disease
or a combination of these.
Diagnosis depends on specific
enzyme assays, which are time con-
suming and expensive. We have
been investigating new diagnostic
methods, using tandem mass spec-
trometry analysis of blood and cul-
tured skin fibroblasts, as screening
tests to indicate the level of the dis-
order, in an individual patient, and
to optimise the diagnostic process.
Molecular studies of autism and
anorexia nervosa
R Urwin, K Nunn, B Bennetts, B
Wilcken
Obsessional symptoms of autism
and anorexia nervosa respond to
antidepressants blocking the sero-
tonin transporter. We hypothesise
that serotonin transporter gene is a
susceptibility gene for these disor-
ders. We will use a transmission
disequilibrium approach (testing
affected subjects and both of their
parents) to investigate the contri-
bution of polymorphisms in this
and other related genes to the
development of the disorders.
Western Sydney Genetics
Program (Cytogenetics)
Cytogenetic abnormalities in
lymphoma
A Smith, N Watson, P Sharma, J
Robson, L Gallo
Lymphoma is a common malignan-
cy among adults. Not all are
referred for cytogenetics and
indeed most are not. Some centres
consider cytogenetic results useful
in patient assessment and comple-
mentary to disease phenotype. The
work on assessing the cytogenetic
investigation of patients with lym-
phoma from one major haematol-
ogy clinic, with full evaluation of
referral, tests, treatment and out-
come, is ongoing. It has been sup-
plemented by the use of FISH with

N-myc probe (locus at 8q24) to
determine gene amplification as
this may further define a subset of
patients with lymphoma for whom
cytogenetic testing should be part
of the diagnostic protocol.
Development of chromosome
microdissection techniques
A Daniel, P Malafiej, Z Wu
Development of chromosome
microdissection techniques. Such
techniques can be applied widely
across diagnostic and research
problems in Genetics. The technol-
ogy is at the cutting edge and is dif-
ficult, involving the use of
micropipettes for the microsurgery
of single chromosomes and chro-
mosome regions within a single
cell. Dissection is under oil where
fragments are transferred to a
buffer droplet by a micromanipula-
tor. The amplification of dissected
DNA will be attempted via DOP
(degenerate oligo primer) and liged
specific primer techniques.
Establishing a high resolution
chromosome banding
ideogram between the 550 and
850 levels of resolution
N Chia, L Bousfield, A Daniel
The 850 band level does not facili-
tate the routine analysis of struc-
tural rearrangements. Many subtle
rearrangements have to be inter-
preted at the 700 band level or less
where the origin of breakpoint loca-
tion is ambiguous using the 850
ideogram. It is intended to review
the banding patterns of each chro-
mosome over a 1-2 year period and
construct an ideogram showing the
550, 850 and the new 700 band lev-
els side by side. Once published, we
are confident this will become a
valuable resource for the analytical
cytogeneticist.
projects
RESEARCH REPORT
What constitutes Nmyc
amplification in neuroblastoma?
A Smith, P Shaw, C Cooke-
Yarborough, S Arbuckle, L Robson
N myc amplification is known to
adversely affect outcome in
patients with neuroblastoma (Nb).
Double minutes seen on cytogenet-
ics are also indicators of gene
amplification but the correlation of
these two findings has been elu-
sive. DNA ploidy studies do not
provide an accurate assessment of
N myc amplification. FISH with N
myc probe, used in a number of
patients, has defined 3 categories
of amplification - only two signals
and clearly no amplification; 3 - 12
signals with intermediate amplifi-
cation; clear cut "massive" amplifi-
cation with signals too numerous to
count. We are continuing with the
evaluation of the significance of
intermediate amplification.
Western Sydney Genetics
Program (Cytogenetics
and Molecular Genetics)
The investigation of confined
placental mosaicism and
uniparental disomy
A Daniel
Essentially, mosaicism detected
during prenatal diagnosis is some-
times resolved to an apparently
normal karyotype at least in amni-
otic fluid or blood. However, the
apparently normal karyotype may
have undetected UPD. UPD is the
inheritance of both chromosomes/
regions from one parent instead of
half from each parent. This phe-
nomenon can be involved in the
causation of malformations despite
the normal karyotype since appar-
ently it is critical for fetal develop-
ment to inherit a chromosome from
each parent to construct the
genome of a normal individual.
1999
The phenotype in triploidy and
the parental origin of the extra
haploid genome
A Daniel, Z Wu
Triploid conceptuses are observed
to exhibit fetal demise at several
levels of gestation. The reasons for
this are unclear but parental origin
of the extra haploid genome and a
differential tendency to form a par-
tial hydatidiform molar pregnancy
are certainly involved. As cases are
ascertained by the laboratory infre-
quently via fetal pathology and pre-
natal diagnosis, cells will be kary-
otyped, archived in liquid nitrogen,
fetal pathology performed in con-
cert with Anatomical Pathology
Departments of the several client
hospitals, and DNA extracted from
parental bloods and cultured tis-
sues to address these issues.
Western Sydney Genetics
Program (Marfan Research
Group)
Definition of mutations in the
fibrillin-1 gene in patients with
Marfan syndrome and Marfan-
related phenotypes
LC Adés, M West, K Summers, EA
Haan, K Holman
This research is aimed at defining
mutations in the fibrillin-1 (FBN1)
gene responsible for the clinical
disorders Marfan syndrome and
autosomal dominant ectopia lentis.
Additional patients with a Marfan-
like phenotype including patients
with Shprintzen-Goldberg syn-
drome, Furlong syndrome, Idaho
syndrome, progressive kyphoscol-
iosis, and patients with skeletal
features of Marfan syndrome are
also being studied. We aim to char-
acterise the FBN1 gene mutations
in these patients (using techniques
such as SSCP, direct DNA sequenc-
ing, restriction enzyme analysis,
RT-PCR and cloning), and examine
whether or not a correlation exists
19

RESEARCH REPORT
between their clinical features, the
site and type of the FBN1 gene
mutation, and the amount of extra-
cellular fibrillin deposition. We are
hopeful that this work may lead to
the development of an Australia-
wide diagnostic service for families
with Marfan syndrome, using direct
mutation analysis as part of a com-
prehensive strategy.
Effects of mutations in FBN1
on interactions between
fibrillin and transforming
growth factor-B in Marfan
syndrome
M West, LC Adés, S LeBrocque, M
Nataatmadja, K Summers, K
Holman
This research is directed at
focussing specifically on the inter-
action between fibrillin, the abnor-
mal protein in Marfan syndrome,
and transforming growth factor
beta, an important growth regula-
tor. The interaction between these
two factors may be critical in the
development of normal tissue
structure. The study may lead to
the identification of a new function
for fibrillin- that of a storage pro-
tein for TGF-beta, with a role in the
export of TGF-beta from the cell,
and in the modulation of cell
growth and gene transcription
activity.
FBN1 and FGFR gene
mutation screening in patients
with a Marfanoid phenotype
and craniosynostosis
LC Adés, T Roscioli
This recent collaboration is to look
specifically at an unusual small
group of ten or so patients who
have Marfanoid skeletal features,
but may not meet the clinical diag-
nostic criteria for Marfan syn-
drome. In addition, the patients
also some form of craniosynostosis.
We seek to explore the possibility
20
projects
1999
that the underlying pathogenetic
mechanism in these patients may
be of digenetic inheritance for a
FBN1 gene mutation, together with
a mutation in either the FGFR1,
FGFR2 or FGFR3 gene.
FBN1 gene mutation
screening and gene
expression studies in the
Marfan syndrome
LC Adés, M West, K Summers, K
Holman
This study aims to correlate find-
ings between FBN1 gene mutations
in Marfan syndrome and gene
expression and localisation of TGF-
beta, fibrillin and LTBP (latent
transforming growth factor binding
protein) in Marfan fibroblast cell
cultures of skin and aorta in
patients that have undergone aortic
bypass graft surgery.
Western Sydney Genetics
Program (Metabolic
Diseases Research
Laboratory)
A molecular genetic study of
familial Mediterranean fever
T Roscioli, B Bennetts, L
McQuade, RK Kamath, M Murrell,
J Christodoulou
Familial Mediterranean Fever
(FMF) is an autosomal recessive
disorder characterised by periodic
episodes of fever, abdominal pain,
arthritis and rash. There is often a
delay in the diagnosis because of
its many features, and affected
individuals often have had a num-
ber of unnecessary surgical proce-
dures before the diagnosis has been
made. It is particularly common in
certain ethnic groups, with a carri-
er rate for the disorder being up to
1 in 7 in some of these groups.
With the recent identification of the
gene responsible for FMF has come
the ability to perform definitive
genetic testing for the disorder, and
the opportunity to explore pheno-
type-genotype correlations. We are
studying a cohort of 18 patients
with this disorder using a PCR
based strategy.
Evaluation of
dihydrorhodamine 123 in the
screening of patients with
defects of the mitochondrial
respiratory chain
K Setterfield, AJ Williams,
J Christodoulou, M Hanlon
The mitochondrial respiratory
chain disorders can have devastat-
ing consequences in some patients,
often striking infants and young
children. In contrast, other patients
may have only relatively mild clini-
cal problems. In this project we
are developing a screening strate-
gy, using fluorescence activated
cell sorting techniques and the
mitochondrial probe dihydrorho-
damine 123, that would allow us to
rapidly obtain stronger biochemical
evidence from blood samples that
the symptoms in a particular child
are due to a mitochondrial respira-
tory chain disorder. Preliminary
results are encouraging, and we
are currently further improving the
sensitivity of this method by incor-
porating the use of specific
inhibitors of the mitochondrial res-
piratory chain.
Hyperprolinaemia in VCFS
syndrome
R Sachdev, K Green, L McQuade,
M Wilson, A Colley, J
Christodoulou
Recent reports have suggested that
patients with Velo-Cardio-Facial
syndrome (VCFS) associated with a
large deletion of chromosome 22q
also have raised blood proline lev-
els because one copy of the proline
oxidase gene is lost. To evaluate

this further we have undertaken a
study to quantitate plasma proline
levels in a cohort of 22q11 deleted
VCFS patients. Whether this might
play a role in the pathogenesis of
VCFS remains to be established.
Identification of the gene(s) for
cytochrome c oxidase
deficiency
D Thorburn, H-HM Dahl, J
Christodoulou, D Mowat
We are collaborating with the
group from the Murdoch Institute
in Melbourne, aimed at identifying
the gene or genes responsible for
cytochrome c oxidase (COX) defi-
ciency in the Lebanese community,
which have a high level of consan-
guinity, and which COX deficiency
appears to be relatively common.
These studies have identified
potential loci on chromosomes 17
and 20. Further homozyogisity
mapping is proceeding to further
refine the critical regions, with can-
didate gene mutation screening to
follow.
Is a deletion of chromosome 8p
associated with a recognised
phenotype?
R Sachdev, L McQuade,
J Christodoulou, A Colley,
M Wilson
It has been suggested that a dele-
tion of the distal segment of the
short arm of chromosome 8 may be
associated with a recognisable syn-
dromic phenotype. We have identi-
fied a number of patients who have
a similar phenotype. These patients
will be screened for 8p deletions
using a combination of FISH probes
specific for 8p and the centromeric
region of chromosome 8.
projects
RESEARCH REPORT
Molecular characterisation of
birth defects on human
chromosome 22
A Colley, J Christodoulou, MJ
Wilson, LR McQuade
Individuals with the genetic syn-
drome CATCH22 share clinical fea-
tures including heart abnormalities
from birth, hard and soft palate
abnormalities, learning difficulties
and growth problems. This disorder
is associated with the loss of a vari-
able amount of DNA on chromo-
some 22 (called a deletion). In up
to a quarter of cases this may have
been inherited from one of the par-
ents, and the clinical problems may
increase in severity from parent to
child. Using PCR based haplotype
analyses, we have studied a cohort
of family members with an inherit-
ed CATCH22 syndrome. Our stud-
ies indicated that there did not
appear to be a change in the dele-
tions during transmission from par-
ent to child that could be related to
the variation in clinical features
from the parent and child. We have
also characterised atypical dele-
tions which we have identified in
two patients, whose deletions were
distal to the "common" deletion,
and outside the minimal critical di
George region. This information
will potentially lead to insights into
those genes responsible for the var-
ious clinical features seen in
CATCH22.
Molecular studies of
galactosaemia
J Christodoulou, M Murrell, B
Wilcken, V Wiley
Classical galactosaemia occurs in
newborns in Australia with a fre-
quency of approximately 1:50,000,
so that about five will be born each
year. Babies with galactosaemia
quickly develop symptoms after the
institution of milk feeds, with about
80%, resulting in death in the new-
1999
born period unless treatment is
promptly instituted. In the remain-
ing 20% there is a more insidious
onset, with failure to thrive, liver
failure, and cataracts. We have
been characterising the range of
genetic changes (mutations) that
give rise to galactosaemia using
the new mutation screening strate-
gy called enzyme mismatch cleav-
age (EMC) analysis. We have sys-
tematically studied a cohort affect-
ed individuals, and identified a
range of previously described muta-
tions as well as several novel muta-
tions. We are now in a position to
assess the relationship between a
particular mutation and its conse-
quence on the affected individual
(so-called phenotype-genotype cor-
relations).
Rett syndrome: diagnostic
evaluation and therapeutic
strategies
J Christodoulou, C Ellaway, H
Leonard, G Higgins, B Wilcken, M
Thomson
Rett Syndrome is believed to be the
most common cause of progressive
intellectual disability in females,
with over 200 affected girls known
to exist in Australia. It is a pro-
gressive disorder of neuropsycho-
logical development of unknown
aetiology, and is characterised by
early normal development followed
by loss of previously attained skills
(regression), acquired deceleration
of head growth, autistic-like behav-
iour, unsteadiness with walking
(ataxia), stereotypic hand move-
ments, and unexplained rapid
breathing (hyperventilation). The
virtually exclusive occurrence of
the syndrome in females and the
identification of a few familial
cases with inheritance through
maternal lines suggest that this
disorder may be due to a genetic
fault (mutation) in a gene on the X
chromosome, However, the genetic
21

RESEARCH REPORT
basis for this disorder remains to
be established, and to date no effec-
tive treatment has been identified.
In a short term study, we have
demonstrated that the vitamin car-
nitine is of value in a proportion of
affected individuals, although it is
not possible to predict which
patients will benefit based on his-
torical information. A longer term
study is currently underway.
During the course of our genetic
studies into Rett syndrome we
have identified a novel polymor-
phism in the mitochondrially
encoded 16S rRNA gene. To inves-
tigate the hypothesis that the gene
responsible for Rett syndrome is
located on the X chromosome, we
are undertaking molecular genetic
studies of a number of families with
more than one affected individual.
Western Sydney Genetics
Program (Metabolic
Diseases Research
Laboratory) and Institute
of Pathology
Functional and molecular
analysis of defects of the
mitochondrial electron transport
chain
J Christodoulou, AJ Williams, J
Coakley
The mitochondrial respiratory
chain disorders are a devastating
group of progressive disorders,
which in most affected people inter-
fere with muscle and/or intellectual
functioning. Up until now, it has
not been possible to give many
patients and their families accurate
information on the genetic implica-
tions of the disorder, or to develop
useful therapies in a systematic
manner. Using cultured cells from
affected patients, we have devel-
oped a novel method which will
permit us to categorise patients as
having a defect in either a nuclear
22
projects
1999
encoded or mitochondrially encod- Western Sydney Genetics
ed gene. Our next step will be to Program (Molecular
develop methods to identify the
genes responsible for the disorder
Genetics), Neurogenetics
in these individuals. Research Unit and
Westmead Hospital
Biochemical and molecular
genetic evaluation of multiple Identification of susceptibility
respiratory chain defects genes in multiple sclerosis
AJ Williams, J Minchenko, I using linkage analysis in
Trounce, J Christodoulou multiplex families and
association studies with internal
Multiple defects of respiratory controls
chain complexes are caused by BH Bennetts, GJ Stewart, RNS
mutations in either the nuclear or Heard, R Simmons
mitochondrial genomes. Methods
have been developed to provide This project was undertaken in col-
information about the probable laboration with the Department of
inheritance pattern in affected fam- Immunology at Westmead Hospital
ilies. and the Neurosciences Research
Unit, The Canberra Hospital.
Western Sydney Genetics Multiple sclerosis is a complex
genetic disease with many heredi-
Program (Molecular tary factors. The study aimed at
Genetics) recruiting families with multiple
cases of MS and trio families
Identification of susceptibility (affected and both biological par-
genes involved HIV infection ents). These samples form the
using association studies with basis of ongoing genetic studies
internal controls aimed at identifying genes involved
GJ Stewart, BH Bennetts, B Brew, in susceptibility to MS.
Gold, L Burnett
This project was undertaken in the
Department of Immunology at
Westmead Hospital. A number of
genes, particularly CCR5, have
been identified which strongly
influence susceptibility to HIV
infection and also disease progres-
sion. The study aimed at recruiting
trio families (affected & both bio-
logical parents). These samples
and case/control samples form the
basis of ongoing genetic studies
aimed at identifying genes involved
in susceptibility to HIV infection
and disease progression.

Brain and Nervous
System
Psychology
Neuropsychological outcome in
Turner's Syndrome: sex
chromosomes and the
functional organisation of the
brain
P Joy, J Christodoulou, CD Rae, C
Cowell, M Wilson, M Coltheart
This project will investigate the
relationship between sex chromo-
somes and brain function with the
aim of increasing our knowledge
about normal and abnormal devel-
opment. There is extensive litera-
ture indicating quite specific sex
differences in cognitive abilities
and the significant influence of sex
chromosomes (and hormones) on
brain function. However, the exact
nature of the relationship is still
unclear. Conditions with sex chro-
mosome abnormalities (such as
Turner's Syndrome (TS) provide a
unique opportunity to study the
way in which changes in sex hor-
mones influence cognitive function.
In this study neuropsychological,
medical and neuroimaging (MRS)
data will be collected on 24 chil-
dren with TS and 48 children (24
girls and 24 boys) without TS.
Results will be analysed to deter-
mine the nature of sex differences
in neuropsychological functions
and the relationship of this to sex
chromosomes and brain biochem-
istry.
projects
RESEARCH REPORT
Rehabilitation,
Physiotherapy, Social
Work, Occupational
Therapy, Psychology,
Speech Pathology, and
Nursing
Paediatric traumatic brain injury
outcome - the Westmead
multidisciplinary study
SJ O'Flaherty, A Chivers, C
Doggett, S Duff, T Hannan, K
Hobbs, L Kendrick, L McCartney,
M Wallen, L Clemson, S Mackay
Little is known about the outcome
of Australian children following
head injury, particularly those with
mild head injury. This was a multi-
disciplinary study aimed at examin-
ing the functional outcome of chil-
dren with traumatic head injury.
Subjects were 51 children with
traumatic brain injury admitted to
Westmead Hospital from July 1992
to December 1994. This group and
a hospitalised control group were
evaluated by a multidisciplinary
team during admission and at 6
months and 2 years following
injury. Each discipline collected
discipline-specific data. The out-
come variables included medical
variables, gross motor abilities,
upper limb function, cognition, per-
ception, behaviour, family function,
ability to complete activities of
daily living such as dressing and
feeding, communication, and
school performance. The data col-
lection is complete and being
analysed during 1998, with results
available in early 1999.
1999
T.Y. Nelson Department of
Neurology and
Neurosurgery
Health related quality of life in
childhood epilepsy
AM Bye, AF Bleasel
This project aims to measure
health related quality of life
(HRQOL) in a group of children (5-
18 years) with intractable epilepsy
using measures of childhood
HRQOL. To date there is no instru-
ment which measures quality of life
issues specific to children with
epilepsy. Children whose seizures
have been recorded with video and
simultaneous EEG recording are
included in the study. The research
aims to determine whether particu-
lar epilepsy syndromes and neu-
ropsychological functioning in chil-
dren predict HRQOL outcomes.
The project will also examine the
changes in HRQOL following sur-
gery in children with intractable
epilepsy.
Quantitative MRI in childhood
epilepsy
AM Bye, MJ Cook, AF Bleasel, JA
Lawson
Correlation of Childhood Epilepsy
syndromes with quantitative MRI
measures of hippocampal volumes
and brain volumes. The anticipated
results will refine the present
International ILAE classification
with greater emphasis on aetiology
and pathogenesis. This will be of
great relevance to the young child
where we expect the concordance
of epileptic syndrome to MRI-
detected structural abnormalities
will be weakest.
23

RESEARCH REPORT
Western Sydney Genetics
Program (Clinical
Genetics)
Huntington Disease:
Neurological assessment of
potential gene carriers
presenting for predictive DNA
testing
E McCusker, F Richards, D
Sillence, M Wilson, R Trent
Potential gene carriers at 50% risk
of inheriting the Huntington dis-
ease (HD) mutation and presenting
for predictive testing underwent
neurological assessment before
knowledge of their gene status.
Records of these examinations by
one neurologist (EAMcC) were
reviewed. The association between
pre-result symptoms and minimal
neurological signs and gene status
was determined. After exclusions,
61% of gene positive patients had
minor neurological signs whereas
only 8% who tested gene negative
were recorded as having signs.
The findings in this study wave
implications for studying the true
clinical onset of neurodegenerative
diseases which will be particularly
relevant if neuroprotective agents
or other therapies become avail-
able.
24
projects
1999
Gastrointestinal
System and Liver
James Fairfax Institute of
Paediatric Nutrition
Body composition in metabolic
disease
J Allen, IRJ Humphries, K Gaskin
Our work in children with
phenylketonuria has demonstrated
moderately severe deficits in both
bone mineral density and body pro-
tein content. Potentially these
patients are at risk from osteoporo-
sis in adulthood. We are now sur-
veying groups of patients with
metabolic disease on low protein
(eg maple syrup urine disease) or
lack of dairy food diets (eg galac-
tosaemia) to determine whether
the abnormalities found in PKU
children are common to children on
low protein, no dairy product diets.
Body fluid compartment size
using non-invasive technology
I Humphries, K Gaskin, R
Howman-Giles, J Allen
This project was designed original-
ly to determine whether the com-
bined data from the total body pro-
tein monitor and DXA could be
used to determine total body water.
In addition, could the protein moni-
tor measure total body chloride. If
so, these scans with a maximum
scan time of 30 minutes would cir-
cumvent the prolonged time for
measurement of total body water
and extracellular fluid volume
using dilution techniques.
Moreover, the new technique
results would be available immedi-
ately, as opposed to the 1-2 weeks
for results of measuring deuterium
oxide and bromide. The mince
meat phantom experiments confirm
the utility of the new scanning
techniques and their accuracy and
precision. Studies in human adults
will commence in 1999 comparing
the scanning and stable isotope
dilution techniques.
Fluid secretion and liver disease
in cystic fibrosis
K Gaskin, MA Gruca, A Georga, S
Dutt
This project was designed to deter-
mine (i) pancreatic-biliary fluid
secretion in cystic fibrosis patients
with and without liver disease; and
(ii) if fluid flow is altered by the
occurrence of common bile duct
obstruction. Recruitment for this
project is complete and most of the
patients are into the second or
third year of the study. Within this
study we are also assessing the
lithogenicity and viscosity of bile in
CF patients with and without liver
disease.
Intestinal phospholipid
metabolism in cystic fibrosis
K Gaskin, H Nouri-Sorkhabi, P
Kuchel, S Dutt
We proposed to investigate secre-
tion of the pancreatic glycoprotein
GP-2 into the intestine in CF
patients with varying degrees of
pancreatic dysfunction. Further,
we wish to determine whether GP-
2 binds to lysolecithin (lysoPC) and
serves as a detoxification mecha-
nism when lysoPC is produced by
the hydrolysis of lecithin. In our
current work we have been able to
purify GP-2 from pancreatic juice
and have shown that it binds phos-
pholipids, including lysolecithin.
In our recent study, now accepted
for publication, we have demon-
strated that in juice from pancreat-
ic insufficient patients, oral enzyme
replacement therapy (OERT)
hydrolyses lecithin to lysoPC but
fails to hydrolyse the latter to glyc-
erophosperocholine. LysoPC could

build up in toxic concentrations
and we are assessing this in
response to different strengths of
OERT by measuring lysoPC produc-
tion in vitro in intestinal fluids and
stools from CF patients.
University Department of
Paediatrics and Child
Health
Energy expenditure and
substrate use in anorexia
nervosa
J O'Connor, J Allen, K Gaskin, M
Kohn, S Clarke
Anorexia nervosa is the third most
common chronic disease amongst
adolescents. Nutritional rehabilita-
tion is an important part of man-
agement of anorexia nervosa.
However, little is known about the
most effective form of refeeding. In
this study, patients with anorexia
nervosa had their rate of metabo-
lism measured before and after
nutritional rehabilitation. Initial
results suggest that, when patients
with anorexia nervosa subjects are
given a fat-containing meal, then
their rate of metabolism is lower
than when given a carbohydrate
meal. This suggests that low-
weight anorexia nervosa subjects
are energy-inefficient in the use of
carbohydrate as a fuel.
Energy expenditure in healthy
young children
LA Baur, E Ball, K Gaskin, K S
Seinbeck, J O'Connor, PSW Davies
Obesity is an increasingly prevalent
problem in the Australian commu-
nity, including in young children.
In order to understand how best to
prevent this problem, we need to be
able to accurately measure the
level of physical activity and total
energy expenditure and the food
intake of pre-adolescent children.
projects
RESEARCH REPORT 1999
In this study, parents of 70 children completed the trial (38 cisapride
aged 6-9 years kept a record of group and 30 in the placebo group).
their child's levels of activity and There were no significant differ-
food intake over a three day period, ences in the symptoms of crying,
during which time the child wore vomiting, or gagging; the overall
an activity monitor ("accelerome- symptom intensity score; or
ter"). At the same time, the doubly parental global evaluations. There
labelled water technique was was a significant difference (P <
employed to measure total energy 0.3) in the percent time pH <4, the
expenditure over a full ten day peri- number of reflux episodes lasting
od, while the child was going about more than 5 minutes, and the dura-
his or her usual activities at home tion of the longest episode. No sig-
and at school. Preliminary results nificant difference was demonstrat-
show that these healthy children ed for the number of episodes with
have wide range of level of physical pH <4 or the reflux score. Cisapride
activity but that the mean level of was no better than placebo for
total energy expenditure is in keep- relief of symptoms in children with
ing with W.H.O. recommendations - uncomplicated gastroesophageal
these are the first such data for reflux. A beneficial effect was
Australian school-children. Measures demonstrated in the cisapride
of physical activity as recorded by group in relation to the measured
the parents appear to correlate well parameters for esophageal acid
with the activity monitor records, exposure time.
suggesting that parent-recorded
diaries might be a useful technique
for population studies.
Urology
Cisapride in the control of
symptoms in infants with
gastroesophageal reflux: A
randomised, double-blind,
placebo-controlled trial
RC Cohen, EV O'Loughlin, GP
Davidson, DJ Moore, DM
Lawrence
To evaluate the efficacy of cis-
apride in the treatment of uncom-
plicated gastroesophageal reflux in
children younger than 36 months of
age. A total of 95 patients satisfied
the entry criteria and were random-
ly assigned to double-blind treat-
ment with either cisapride (n = 50),
0.2 mg/kg 4 times daily, or placebo
(n = 45) for 2 weeks. At the end of
the 2 week treatment period, symp-
tom diary and parental evaluation
with repeat 24 hour pH study were
performed. Sixty eight patients
25

RESEARCH REPORT
Heart and Blood
Vessels
Adolph Basser Cardiac
Institute
Evaluation of myocardial
perfusion after
cardiopulmonary bypass
surgery and evaluation of
myocardial protection using
echocontrast
M Sheil, GF Sholler, GR Nunn, D
Celermajer
This is an ongoing study to evalu-
ate the adequacy of heart muscle
blood flow in babies and children
undergoing heart surgery. The
technique is novel and is providing
guidance regarding the optimal
means of protecting the heart dur-
ing such major operations.
Management of Tetralogy of
Fallot by non-invasive
investigation followed by early
surgery
M Walayat, GF Sholler, GR Nunn,
R Chard
Tetralogy of Fallot (TOF) is a form
of complex heart disease resulting
in early death if not treated. The
main causes of death in TOF are
related to additional structural
abnormalities in the heart. This
project aims to establish a non-
invasive method of indentifying
these lesions prior to surgery.
The medium term outcome of
patients who have undergone
balloon dilation of the aortic
valve below the age of 6
months
H Latif, GF Sholler, S Cooper
An examination of the outcome of
balloon dilation of the aortic valve
in newborn babies and very young
26
projects
1999
infants. These patients have a high
rate of associated abnormalities of
the left heart and therefore an high-
er chance of death or poor outcome.
The factors guiding prognosis are
being reviewed.
Use of transoesophageal
echocardiography to guide
blade atrial septostomy
M Walayat, GF Sholler, S Cooper
Some babies are born without the
hole between the two sides of the
heart. Such a hole may be the only
way oxygen can enter the blood.
Obstructed heart chambers can
lower a baby's blood pressure. This
project studies the use of an
advanced imaging technique to
reduce the risk of complex catheter
procedures to create the necessary
communications in the hearts of
babies with complex heart disease.
Anaesthesia
Ultrasound anatomy of the
internal jugular vein
N Street, H Wark
It is the authors hypothesis that
the position of the internal jugular
vein is misrepresented by the gen-
erally accepted surface landmarks
in children. The authors are using a
portable ultrasound machine to
find the IJV in relationship to the
surface landmarks. The images
from the ultrasound are being
stored as a digital image. These
images are then reviewed and mea-
suements taken to prove our
hypothesis. This anatomical infor-
mation will allow us to better cor-
relate the surface and true anatomy
of the IJV in children, improving the
success rate and reducing the com-
plication rate of this important but
invasive monitoring procedure.
Paediatric Intensive Care
Unit
Development of a rat model of
pulmonary hypertension with
increased pulmonary blood
flow
DN Schell, O Miller, G Nunn, I
Nicholson
The aim of this project is to devel-
op and evaluate a rodent model of
pulmonary hypertension that dupli-
cates the increased pulmonary
bloodflow of some types of congen-
ital heart disease. During 1988, a
technique resulting in longterm
survival was achieved. Animals
were anaesthetised, endotracheally
intubated and ventilated. The left
pulmonary artery was ligated,
thereby resulting in pulmonary
blood flow diversion to the right
lung. This procedure can be now
be performed with minimal morbid-
ity and longterm survival, thereby
making this animal model a viable
option for future research projects.
The role of oral L-arginine and
inhaled nitric oxide in the
prevention of hypoxia-induced
pulmonary hypertension in the
rat
OI Miller, N Pigott, DN Schell, D
Celermajer
Pulmonary hypertension can be
elicited in the rat by chronic expo-
sure to hypoxia. The aim of this
study is to evaluate the role of:
orally administered exogenous L-
arginine (the amino acid precursor
of nitric oxide), and inhaled nitric
oxide in the prevention of anatomi-
cal changes of pulmonary hyperten-
sion in the rat exposed to chronic
hypoxia. The presence of pul-
monary hypertension will be deter-
mined by morphological examina-
tion of pulmonary blood vessels at
post mortem. It is hypothesised

that pre-treatment with either L-
arginine or inhaled NO (iNO) will
reduce hypoxia-induced pulmonary
hypertensive changes. If the
hypothesis is correct, there is
potential for the use of dietary L-
arginine supplementation of
patients at risk of developing pul-
monary hypertension. All animal
experiments were completed dur-
ing 1998 and morphometric analy-
sis of the lungs is presently under-
way.
projects
RESEARCH REPORT
Immune System
and Infectious
Disease
The Institute Of Pathology
Incidence of
Enterohaemorrhagic E. Coli
infection in children
W Leach, V Sintchenko
It has been determined that the
incidence of enterohaemorrhagic E-
Coli in children presenting to the
Casualty Department with diar-
rhoea is around 0.5%. the implica-
tion of this in relation to hemolytic-
uremic syndrome, haemorrhagic
colitis and bloody diarrhoea is
being investigated and reported.
Emergency
The use of dexamethasone in
suspected bacterial meningitis
in paediatric emergency
departments in Australasia
G Browne, P McIntyre, L Gomes
This survey occurred in all depart-
ments with a major paediatric
throughput throughout Australasia
and New Zealand. The survey
examined current and past use of
dexamethasone by standard ques-
tionnaire. Participants were re-sur-
veyed following receipt of a recent
metanalysis for any changes in
intended practice. There were no
differences in the proportions of
tertiary referral and general hospi-
tal paediatric emergency depart-
ments amongst users and non-
users of dexamethasone. The initial
questionnaire suggested a fall-off
in the current use of dexametha-
sone with declining HIV disease.
However, the demonstration of ben-
efit in pneumococcal meningitis
has changed attitudes towards its
1999
future use in many departments.
Many emergency departments have
changed the duration of therapy
and are intending to develop proto-
cols for the routine use of dexam-
ethasone in suspected bacterial
meningitis.
Emergency and
Immunology and
Infectious Diseases
Management of children with
cerebrospinal fluid pleocytosis -
implications for steroid use
This study looked at children who
had a diagnosis of bacterial menin-
gitis based on abnormal cere-
brospinal fluid examinations in
1996. The study looked at the
cause, diagnostic criteria and out-
come of children with meningitis.
The study then proposed a protocol
that would be of benefit for use in
the emergency department for sus-
pected cases of meningitis.
Immunology and
Infectious Diseases
A cohort study of cytokines and
asthma
P Joshi, D Isaacs, A Kakakios, C
Mellis, P Van Asperen
T cells may have predominantly a
Th1 or a Th2 cytokine profile, with
implications for the pathogenesis
of atopic disease. This study exam-
ines the effects of viral infections
on the development of Th1 and Th2
cells in infants, and the relation-
ship of these cell profiles to the
development of asthma.
Challenging food allergy
M Codarini, A Kakakios
This study involved investigation of
a subject with a unique and elusive
food allergy. The study involved
27

RESEARCH REPORT
dietary manipulation, food chal-
lenges, and laboratory tests of
immune function, and eventually
identified the causative allergen.
Childhood pneumococcal
infection in Australia
M Wong, P McIntyre, A Kakakios,
M Hanlon, B Bennetts, M
Leinonen, GL Gilbert, R Gilmour
This study investigates the inci-
dence of invasive pneumococcal
disease in children, the nature of
the invasive pneumococci, and the
immunological factors contributing
to susceptibility to infection. In
addition to collecting data on isola-
tion rates and serotypes, several
laboratory assays of immune func-
tion and the genetic contribution to
functional immunity to pneumococ-
ci are studied.
Effect of storage conditions on
the immunogenicity of
whole-cell and acellular
pertussis vaccines, in mice
T Boros, MG Hanlon , M Gold, D
Isaacs, P McIntyre, AM Kakakios
Storage of vaccines at tempera-
tures lower than 4C may affect
their potency. This study, in collab-
oration with the Adelaide Women's
and Children's Hospital, examines
the effects of different vaccine stor-
age conditions on the development
of specific antibody responses in
immunised mice, as a model for the
effects in infants.
ELISA serology for diagnosis of
pertussis infection
M Poynten, M Hanlon, GL Gilbert,
AM Kakakios, P McIntyre, L Irwig
The clinical symptoms of adults
patients suspected of having
whooping cough were investigated
by telephone interviews, and four
different serological assays per-
formed on samples from these sub-
28
projects
1999
jects. This study examines the rela-
tive sensitivity and specificity of
the various serological methods.
Host-Pathogen interaction in
Papillon-Lefevre Syndrome
MG Hanlon, ML Gacis, M Wong, R
Widmer, AM Kakakios
Actinobacillus actinomycetemcomi-
tans is normally a commensal
organism, but in the hereditary con-
dition Papillon-Lefevre Syndrome
(PLS), is related to juvenile peri-
odontitis and defects of neutrophil
function. This study examines the
pathogen-specific host responses in
PLS patients, with an objective of
developing a tool to measure the
effectiveness of treatment.
Recovery of immune function
after bone marrow
transplantation
A Kakakios, P Shaw, M Hanlon
This study assesses the ability of
patient's immune systems to pro-
duce immunoglobulins and specific
antibodies after bone marrow
transplantation (BMT). The study
examines the antibody response to
vaccinations given before or after
the BMT, during the post-BMT
period.
Response to pneumococcal
vaccination in splenectomised
lambs
MG Hanlon, P McCullagh, K King
Splenectomised lambs are suspect-
ed to have a reduced immune func-
tion. This study, in collaboration
with the John Curtin University,
examines the humoral immune
response of lambs to immunisation
with pneumococcal vaccine. This
may provide a model for response
of splectomised humans.
Single-Antigen ELISA for
detection of immune response
to Bordetella pertussis
MG Hanlon, R Nambiar, AM
Kakakios, ML Gacis
Conventional whole-cell serology
for Bordetella pertussis is thought
to be less sensitive, and is of differ-
ent specificity to serology which
measures antibody response to
individual purified pertussis anti-
gens. This study investigates the
differences in antibody response to
pertussis, using these techniques,
with the aim of developing better
diagnostic approaches.
The impact of antiretroviral
therapy on the immune
response to vaccine antigens in
HIV-infected children who have
been previously immunised
M Codarini, P McIntyre, A
Kakakios, J Ziegler, P
Palasanthiran, C Hughes, M Goode
HIV infection compromises the
ability of T cells to assist in the
development of antibody respons-
es. This study examines the
immune responses to vaccination
of HIV-infected children who are
being treated with antiretroviral
therapy.

National Centre for
Immunisation Research
and Surveillance of
Vaccine Preventable
Diseases (NCIRS) and The
New Children's Hospital's
Centre for Immunisation
Research
Clinical trial of a combined
hepatitis A/B vaccine in
adolescents
M Burgess, P McIntyre, G Smith,
B Clifton-Smith, S Botham, A
Egan, F Payne, F Turnbull
The aim of this study is to show
that a licensed combined hepatitis
A/B vaccine can be used success-
fully in a 2 dose (rather than a 3
dose) schedule in adolescent volun-
teers. The two dose schedules
which are being compared are
doses given at 6 month or 12 month
intervals. The 12 month interval
schedule if successful would prove
more convenient and less costly
when delivered in a school based
program than the shorter schedule.
This a two centre study. 120 sub-
jects have been recruited each in
Sydney and Melbourne. Results
will be available early in the year
2000.
Clinical trial of a combined
measles/mumps/rubella/
varicella vaccine (MMRVZ) in
young children
M Burgess, P McIntyre, A Egan, S
Botham, B Clifton-Smith, F Payne
This study aimed to assess the
effectiveness and reaction rate of
two preparations of MMRVZ vac-
cine compared with MMR vaccine.
It has been carried out in three cen-
tres in Australia. Each centre
recruited 80 children aged 12
months. The children receiving
MMRVZ had no significant increase
projects
RESEARCH REPORT
in the rates of reactions compared
with those who received MMR vac-
cine and there were very high rates
of protection (more than 93%) for
all the vaccine components. These
children are being followed up on
an annual basis.
Clinical trial of a pentavalent
vaccine (containing acellular
pertussis/diphtheria/
tetanus/Hib/hepatitis B) for
routine immunisation of infants
P McIntyre, M Burgess, A
Kakakios, S Botham, AM Egan, B
Clifton-Smith, M Hanlon
Compliance with vaccination in
Australia is being affected by the
increasing complexity of the sched-
ule as additional vaccines are
added, and by the fact that parents
and some doctors are reluctant to
administer several injections to
infants at a single visit. The vac-
cine administered in this trial con-
tained the new, less reactogenic
acellular pertussis. Until now it
has been difficult to successfully
combine Hib meningitis vaccine
with acellular pertussis. The objec-
tive of the trial was to test immune
response and side effects in a
group of infants who receive the
pentavalent vaccine, compared
with a group who receive two injec-
tions, one containing only the Hib
component and the other the diph-
theria, tetanus, acellular pertussis
and hepatitis B. 180 infants were
recruited in the trial and have been
followed up at the age of 12
months. The children responded
well to all components of the vac-
cine with a low incidence of side
effects. However, the Hib respons-
es were borderline in some sub-
jects. Follow up is ongoing.
1999
Clinical trial of vaccines
containing acellular
pertussis/diphtheria/tetanus in
adults
T Heath, F Turnbull, B Jalaludin,
M Burgess, M Hanlon, G Smith, B
Clifton-Smith, S Botham, A Egan
Whooping cough (pertussis) is cur-
rently widespread in the Australian
adult population and adults fre-
quently are the source of infection
for infants who are too young to be
vaccinated. In 1997 there were
more than 10,000 notifications of
pertussis in Australia and 9 infants
died in little more than 12 months.
The currently available whole cell
pertussis vaccine is not recom-
mended for use in subjects over the
age of 7 years. This study aimed to
assess the side effects and immune
response of adults to vaccines con-
taining an acellular pertussis (3
components) preparation. The
study was single blinded and ran-
domised. 550 healthy adults were
recruited. Many were health care
workers. The results showed
extremely good responses to all the
antigens in the vaccine and a low
incidence of side effects. Some of
the subjects are being followed up
on an annual basis.
Role of serology in the
diagnosis of pertussis
M Poynton, M Hanlon, L Gilbert,
A Kakakios, P McIntyre
This study aimed to determine if
there is agreement between the
clinical case definition of pertussis
and the serological findings. Study
subjects were sampled from people
who had sera submitted to the
Institute of Clinical Pathology and
Medical Research, Westmead
Hospital between February and
May 1998 for pertussis serology.
Clinical case definition was used as
the gold standard. A total of 90
subjects completed telephone inter-
29
 projects
RESEARCH REPORT 1999

Name - Osner. Age 5.

“I want to drive a bulldozer when I grow up. I would
push the dirt into a big pile and then lift it into the
dump truck.”

30

views. The pertussis specific
whole cell IgA test (routine labora-
tory diagnostic test) was found to
be 98% specific for the diagnosis of
pertussis but only 24% sensitive.
It was concluded that cases noti-
fied on the basis of a positive whole
cell IgA test are highly likely to be
pertussis.
Varicella (chicken pox) vaccine
trial in healthy adults
M Burgess, Y Cossart, D Wilkins,
S Botham
Varicella vaccines have been avail-
able in parts of Europe and in Japan
and Korea for several years. One
vaccine was licensed in USA in
1995 and is now included in the
routine infant immunisation sched-
ule. The vaccines contain live
attenuated OKA strain varicella
virus. One dose of vaccine is suffi-
cient for children but adolescents
(aged 13 years and older) and
adults require two doses separated
by an interval of one to two months.
This study aimed to evaluate the
side effects and seroconversion
rates in a group of seronegative
students and health care workers.
100 seronegative subjects were
vaccinated with 2 doses of vaccine.
After the first dose 94% of subjects
were protected, and after the sec-
ond dose 100% had developed anti-
bodies. The rate of side effects was
very low and only 2 vaccinees had
mild generalised symptoms. 81
subjects were followed up one year
after vaccination: one had experi-
enced mild varicella, one had sub-
clinical varicella and three had
become seronegative. Annual fol-
low up is being carried out. We
believe that vaccination is useful in
this group of adults.
projects
RESEARCH REPORT
Varicella vaccine in
non-immune household
contacts of children with cancer
or leukaemia
C Kappagoda, P Shaw, M Burgess,
S Botham, D Cramer
Children with cancer or leukaemia
are at greater risk of complications
than healthy children who develop
varicella. Vaccination of their
household contacts may help pro-
tect these high risk children from
infection. This study aimed to
assess the response of
non–immune children and adults
living in the same household as a
child with cancer or leukaemia.
Families were recruited from the
Oncology Unit of RAHC. They were
vaccinated with a preparation of
live varicella vaccine which is sta-
ble when stored at 2-8 degrees cel-
sius (refrigerator temperature).
Thirty five seronegative subjects
(28 children and 7 adults and ado-
lescents) were vaccinated. All sub-
jects became immune and there
was a low rate of side effects (rash
in 2 and fever in 3). There was no
evidence of transmission of the
virus to the patients. We found the
vaccine safe and effective but fur-
ther follow up is needed to docu-
ment the duration of immunity. A
paper reporting these results is in
press.
1999
Kidneys and
Bladder
Anaesthesia
Comparision of ropivacaine and
bupivacaine with adrenaline for
postoperative caudal analgesia
in children undergoing
hypospadias repair
C Jones, G Morris, MG Cooper, D
Murrell, J Keneally
Caudal anaesthesia has been used
for many years as the method of
choice for intr and postoperative
analgesia in hypospadios surgery.
A new local anaesthetic agent,
Ropivacaine has the reported
advantages of a similar efficacy
but reduced risk of morbidity with
inadvertent intravascular injection.
Only adult information is available
at present. This study will attempt
to establish the efficacy of
Ropivacaine in the paediatric surgi-
cal group.
Centre for Kidney
Research
Systematic Reviews
Increasingly, clinicians looking
after sick children seek to base
their care on good evidence. In
other words, they want to be confi-
dent that the treatments they offer
are likely to do more good than
harm. The best evidence on which
to base clinical decision making is
the randomised controlled trial, but
with over 60,000 trials published in
paediatrics alone, how is the indi-
vidual clinician to synthesise all
that information and apply it to
each patient at the bedside or in the
clinic? Systematic reviews use
explicit and reproducible methods
to summarise the findings of pri-
mary clinical research concerning
diagnosis, prognosis and treat-
ment. The use of a transparent,
31

RESEARCH REPORT
structured process for making a
systematic review helps to guard
against the introduction of bias due
to the reviewers’ own preconcep-
tions or beliefs. A good systematic
review provides a sound starting
point for evidence-based clinical
decision making.
Writing a systematic review is usu-
ally a six step process:
1. Formulate the problem
2. Locate and select research
studies to be reviewed
3. Evaluate the quality of the
studies
4. Collect the data from the
studies
5. Combine, analyse and
present results
6. Interpret the results
Step five often requires meta-analy-
sis, in which the results of two or
more studies are pooled using sta-
tistical techniques to provide a
summary result. The whole process
involves a review panel which
includes content experts and meth-
ods experts, and usually takes over
a year to complete.
The Centre for Kidney Research
undertakes systematic reviews
concerning common problems of
the kidneys and urinary tract in
childhood. Our current reviews are
listed individually below. Reviews
in progress are registered with the
Cochrane Renal Group headquar-
ters in Lyon, France. From this
register we know that we are cur-
rently undertaking more reviews
than any other paediatric or adult
kidney group.
We publish our reviews in the med-
ical literature, and we also submit
them to the Cochrane Collaboration
database, so that they are available
across the Internet to clinicians all
over the world.
32
projects
1999
A systematic review of the test per-
formance of urine microscopy and
urinalysis for the diagnosis of
urinary tract infection in children
G Williams, J Craig, L Irwig
A systematic review of the litera-
ture to assess the sensitivity and
specificity of urine screening tests
for the diagnosis of urine infection
in children.
Antecedents of renal disease in
Aboriginal children
J Knight, R Williams, L Irwig
A survey of the incidence of silent
renal disease in Aboriginal children
in urban, rural and remote commu-
nities in NSW.
Antibiotics for the prevention of
UTI: a meta-analysis
J Craig, A Lee, G Williams
A systematic review of randomised
controlled trials examining the
effect of long term antibiotics to
prevent recurrent urinary tract
infections in children.
Duration of antibiotics for acute
paediatric UTI
J Craig, V Moyer
A collaborative project with
Virginia Moyer, Section of Clinical
Epidemiology, The University of
Texas, Houston.
How accurate is DMSA
scintigraphy for the diagnosis of
acute pyelonephritis? A meta-analy-
sis
J Craig, D Wheeler, L Irwig, R
Howman-Giles
Critical appraisal of seven published
studies which sought to validate
DMSA scintigraphy against the gold
standard, histopathology. Sensitivity
was 86% and specificity was 91%.
Steroids for children with nephrotic
syndrome
E Hodson, J Craig, J Knight, N Willis
Systematic review and meta-analy-
sis of corticosteroid therapy in
childhood nephrotic syndrome.
Treatment of vesicoureteric reflux
D Wheeler, D Vimalachandra, J Craig,
P Roy, G Smith
A Cochrane Collaboration system-
atic review and meta-analysis of
treatment options for vesi-
coureteric reflux. Use of ureteric
reimplantation in addition to antibi-
otic prophylaxis resulted in a
reduction in febrile urinary tract
infections, but did not result in any
significant difference in the devel-
opment of renal parenchymal
defects, when compared with pro-
phylaxis alone.
Centre for Kidney
Research and Anaesthesia
The effects of NSAIDs on
postoperative renal function
A Lee, M Cooper, J Craig, J Knight, J
Keneally
A systematic review of published
randomised controlled trials
showed that NSAIDs caused tran-
sient reductions in renal function in
adults during the early postopera-
tive period.
Centre for Kidney
Research and APSU
Nephrotic syndrome survey
E Hodson, J Craig, N Willis, S
Puckeridge
National prospective epidemiologi-
cal surveillance for nephrotic syn-
drome in childhood in collaboration
with the Australia and New
Zealand Nephrotic Association.

Centre for Kidney
Research and
Endocrinology
A systematic review of growth
hormone treatment in children with
chronic renal failure
D Vimalachandra, J Craig, C
Cowell, J Knight
A systematic review of randomised
controlled trials of growth hormone
treatment in children with chronic
renal failur
The Molecular Biology of T-cell
Recognition
The T-cell is the choreographer of
our immune responses. The recep-
tors on its surface make crucial
decisions about a myriad of sur-
rounding proteins - what is foreign
and what is familiar. When a par-
ent gives a kidney to their child, it
is the child’s T-cells which recog-
nise that the kidney is foreign and
seek to reject it. And it’s T-cell
recognition which goes horribly
wrong in autoimmune kidney dis-
ease (nephritis), the commonest
cause of kidney failure in Australia
in both children and adults – a dis-
ease in which the body’s own
immune system attacks the kid-
neys and destroys them.
If we could understand and control
the precise dynamic architecture of
T-cell recognition and responses,
we could prevent transplant rejec-
tion without the need for immuno-
suppressive drugs, and we could
provide safe and effective treat-
ments for nephritis – before the
kidneys are attacked. These are
the long term goals of the Centre
for Kidney Research’s programme
of research into the molecular
immunology of T-cell repertoire.
Our laboratory is equipped to
define the exact genetic sequences
which code for the receptors which
projects
RESEARCH REPORT
initiate T-cell recognition of self
and of non-self. We are designing
treatment strategies based on
those sequences which act at the
initiation of the immune response,
and which can be targeted specifi-
cally at those cells which are doing
the damage, without interfering
with the other immune response
cells which are so necessary to pro-
tect us against infection and
against cancer. We believe that
specific and selective T-cell block-
ade will prove to be the most
rational and effective means of
tackling the twin problems of
transplant rejection and nephritis,
which create so much work for
renal units, and so much suffering
and distress for our young patients.
Gamma-delta T-cell receptor
repertoire in adriamycin-induced
nephropathy
T Ando, J Knight
A collaborative project with the
renal research group at the Second
Department of Internal Medicine,
Kyushu University, Fukuoka,
Japan. Molecular characterisation
of antigen receptors on lympho-
cytes infiltrating the kidney in a rat
model of glomerulonephritis.
Sequencing the rat TCR delta gene
locus
D Watson, T Ando, J Knight
Gamma delta T-cells are implicated
in renal interstitial inflammation.
In order to study this in a rat model
it is first necessary to determine
the germline sequence of the rat V-
delta locus, which is currently not
known.
1999
T-cell receptor repertoire in a
mouse model of allograft
rejection
G Zhang, H Wu, J Knight
Cloning and sequencing of cell sur-
face molecules that determine
self/non-self recognition in trans-
plantation. An in vitro and in vivo
study of two closely related strains
of mouse whose tissue types are
well understood at the molecular
level.
T-cell receptor repertoire in a rat
model of tolerance
G Zhang, J Knight, A Sharland, A
Bishop
This study was undertaken in col-
laboration with the Centenary
Institute of Cancer Medicine and
Cell Biology, University of Sydney.
Molecular characterisation of anti-
gen receptors on lymphocytes infil-
trating the liver in a rat model of
liver transplantation.
T-cell receptor repertoire in
Heymann nephritis
H Wu, G Zhang, G Walters, J
Knight
Molecular immunological mecha-
nisms in a rat model of human
membranous nephropathy. Cloning
and sequencing of antigen recep-
tors on T-cells in the kidney and in
regional lymph nodes. This project
also makes use of anti-sense thera-
py for prevention of antigen recog-
nition in this condition.
T-cell receptor repertoire in IgA
nephropathy
H Wu, G Zhang, A Clarkson, J
Knight
A study of the molecular basis of
autoimmunity in a common form of
glomerulonephritis. In this project
we clone and sequence antigen
receptors on the surface of T-cells
33

RESEARCH REPORT
infiltrating the kidney in human
renal biopsies.
T-cell receptor repertoire in
nephrotoxic nephritis
T Ando, P Tipping, J Knight
A collaborative project with the
Department of Medicine at Monash
Medical Centre, Melbourne.
Molecular characterisation of anti-
gen receptors on lymphocytes infil-
trating the kidney in a mouse
model of glomerulonephritis
T-cell receptor repertoire of a
mouse model of Goodpasture
Disease
G Walters, H Wu, J Knight
A study of peptidic antigens and
their interactions with the T-cell
receptor in a well characterised
model of renal autoimmunity.
34
projects
1999
A multicentre double-blind
placebo controlled trial of
chemoprophylaxis in children
with isolated vesicoureteric
reflux
J Craig, D Vimalachandra, P
Sureshkumar, L Irwig, E Hodson, J
Knight, P Roy
When abnormalities of the kidneys
are seen in the foetus on routine
antenatal ultrasound it is common
practice for renal imaging studies
to be performed when the child is
born. If bladder reflux is identified,
the child is often given prophylactic
antibiotics, although the risk of
urine infection in this group has
never been established. In this
prospective multicentre, ran-
domised double blind, placebo con-
trolled study children with asymp-
tomatic reflux are randomised to
receive either antibiotics or place-
bo, with the intention of determin-
ing for the first time the risk of
urine infection in this group, and
whether giving antibiotics
improves the health outcome.
Lewis blood groups and urine
infection
A Flatter, J Sullivan, J Knight, J
Harrington
This project was undertaken in col-
laboration with the NSW Red Cross
Blood Bank. It aims to determine
whether genetic heterogeneity in
Lewis blood group antigens influ-
ences the risk of urine infection in
children.
Long term antibiotics for
prevention of UTI: a
randomised placebo controlled
trial
J Knight, E Hodson, P Roy, L
Irwig, J Simpson, G Smith, R
Howman-Giles, A Lam, G
Williams, A Lee
A randomised double blind placebo
controlled trial to determine
whether chemoprophylaxis with
long term antibiotics given daily to
children under 5 years of age pre-
vent recurrent UTI.
Prevalence of daytime urinary
incontinence in primary school
children
P Sureshkumar, P Roy, J Knight, J
Craig
This survey aims to examine the
prevalence of this distressing prob-
lem in a large cohort of children
starting kindergarten in schools
across NSW.
Reliability of DMSA for the
diagnosis of kidney damage in
children
J Craig, L Irwig, M Ford, N Willis,
R Howman-Giles, R Uren, M
Rossleigh, S Grunewald
Four nuclear medicine physicians at
three different hospitals were asked
to read a set of 100 DMSA scans and
the variability in their interpretation
of the images was analysed. The
study showed a very high agreement
level of 87% (kappa 74%).
The natural history of urine
infection
J Craig, L Irwig, J Knight, P Roy
A cohort of 300 children under the
age of five years with their first
symptomatic urine infection has
been investigated and followed
prospectively.
Cholesterol following renal
transplant in children: a seven
year follow up
D Wheeler, A Lee, R Pool, M
Koirus, D Herbert, J Craig
A collaborative study with the
Hospital for Sick Children, Toronto,
Canada. This study aimed to deter-
mine cholesterol levels following
renal transplant and explore any

relationship with graft function and
time to first rejection. At 5 years
post transplant, 33% of children in
this cohort exceeded recommended
adult cholesterol limits and all
exceeded paediatric limits. There
were no identifiable predictors of
hypercholesterolemia and hyperc-
holesterolemia did not significantly
predict the time to first rejection
(P=0.65). The demonstration of
such prolonged hypercholes-
terolemia means that well designed
trials of lipid lowering medication
are required.
Cyclosporin pharmacokinetics
in children with stable renal
transplants
A Lee, E Hodson, C Nath, J
Knight, N Willis, J Earl
Assessment of pharmocokinetic
studies in children with stable
renal transplants to determine a
more effective way of monitoring
cyclosporin therapy. Cyclosporin is
a drug used to prevent graft rejec-
tion. The amount of cyclosporin
absorbed from an oral dose is
extremely variable, causing diffi-
culties in obtaining a stable dosing
regimen. Pharmacokinetic analysis
of cyclosporin in children before
and after renal transplant has
demonstrated that measurement of
trough levels in blood is unsatisfac-
tory for monitoring dosage. A new
method for monitoring cyclosporin
is being developed.
Molecular mimicry in acute post
streptococcal
glomerulonephritis
I Ghadiminejad, D Watson, J
Knight
Exploration of the molecular mech-
anisms involved in postinfectious
glomerulonephritis in children.
projects
RESEARCH REPORT
Elucidation of a heparin binding
factor that neutralises endotoxin
I Ghadiminejad
Study of factors in the urine of chil-
dren with steroid sensitive nephrot-
ic syndrome
Nursing Academic Unit
Investigation into the incidence
of bladder spasm after surgery
for ureteric reimplantation in
children at the New Children's
Hospital
L Lane, D Murrell, D Gillies, S
Nagy
Children undergoing simple
ureteric reimplantation surgery
have been observed to suffer blad-
der spasms which are unrelieved by
usual post-operative analgesia.
This project aims to find what pro-
portion of children undergoing such
surgery at the New Children's
Hospital experience bladder spasm
post-operatively. It also aims to
investigate whether there is a rela-
tionship between the number of
days of post-operative catheterisa-
tion and the incidence of bladder
spasm in these children. Data col-
lection is in progress.
Urology
Doppler flow - assisted
laparoscopic varicocele repair in
adolescents
RC Cohen
The mean incidence of varicocele in
the adolescent age group is 16%.
One third of all males evaluated for
infertility have a varicocele.
However, following correction of a
varicocele in adult life normal fer-
tility is attained in only 20-50% of
cases. On this basis it has been
suggested that early correction of
1999
varicocele may improve fertility
later in life. During this 6 year peri-
od May 1993-1999, 40 left sided
laparoscopic varicocele repairs
have been performed on boys with a
mean age of 12 years. All had stage
3 varicoceles and either clinical or
ultrasonic evidence of ipsilateral
reduction in testicular size (95%)
or discomfort. During laparoscopy
the testicular artery was identified
and preserved in all patients using
a Doppler flow transducer ("Smart
Needle"). This technique has an
85% success rate with 60% of
affected testes exhibiting catch-up
growth within 6 months following
the varicocele repair. These
patients will continue to undergo
long term follow up for assessment
of fertility.
Laparoscopic bladder ‘wrap’
technique for repair of
vesicoureteric reflux in a
porcine model
R Cohen, D Moores, C Cooke-
Yarborough, W Hermann
To determine if vesicoureteric
reflux (VUR) can be successfully
corrected laparoscopically by a
bladder `wrap' technique in a pig
model. In 15 female piglets (mean
weight 22.5kg) bilateral VUR was
created by an open technique (11
Grade 3, 2 each of Grades 2 and 4).
Eight weeks later (range 4-16
week) VUR was confirmed by fluo-
roscopic cystogram and unilateral
laparoscopic correction was per-
formed. The contralateral ureter
being used as a control. The blad-
der was emptied and a 3Fr ureteric
catheter was inserted on the repair
side. Four 11mm ports were insert-
ed transperitoneally. The ureter
was dissected to the ureterovesical
junction (UVJ). Commencing at the
UVJ, 2 (n = 9) or 3 (n = 6) black silk
sutures were placed through the
bladder muscle on either side of the
ureter creating a bladder `wrap'
35

RESEARCH REPORT
around the distal 2-4cm of ureter.
At a mean of 16 weeks (range 4-24
weeks) cystograms were repeated.
The animals were euthanized, the
bladder and ureters underwent
histopathology examination. VUR
was corrected in 12 animals (80%).
There was persistence of VUR in 2
and ureteric obstruction in one.
The wrap was intact in all animals.
Laparoscopic correction of VUR by
the bladder `wrap' technique is suc-
cessful in pigs. Long-term followup
studies will determine if this will be
a satisfactory alternative surgical
treatment for correction of VUR in
children.
Laparoscopy for undescended
impalpable testes
RC Cohen, G Smith
Undescended testes occur in about
4% of full term infants and between
5% and 15% of testes remain
impalpable. Conventional imaging
techniques are unreliable in locat-
ing impalpable testes. There is sig-
nificant increased risk of malignan-
cy in undescended testes. It is
important to both reliably locate
these testes and identify the absent
testis. Laparoscopy is the most
accurate means of achieving this
and also allows correction of the
problem either by orchidopexy or
orchidectomy. We are currently
utilising this technique and a data
base has been created for the ongo-
ing clinical studies.
36
projects
1999
Lungs and Control
of Breathing
Children's Chest Research
Centre
Airway structure in infants and
children
K McKay
Studies have shown that airway
structure is altered in adult
patients with lung diseases such as
asthma, but it is not known if these
changes are present in children.
The major difficulty in assessing
any changes in childhood is the
lack of information on the normal
structure of airways in children.
This project aims to obtain such
information from male and female
children between 0 and 18 years of
age. The information will then be
used to assist in defining the caus-
es of respiratory difficulty in chil-
dren with lung disease. The air-
ways of male and female infants
under the age of 8 months have
been studied and there are indica-
tions that there are gender differ-
ences in airway structure, and, that
normal airway structure in infants
is significantly different from nor-
mal airway structure in adults.
Analysis of airways from older chil-
dren is underway so that the age at
which adult airway structure
appears can be defined.
Associations between obesity,
the Metabolic Syndrome
(insulin resistance,
hyperinsulinemia,
hyperlipidaemia and
abnormalities of glucose
metabolism) and obstructive
sleep apnoea in children
R De La Eva, L Baur, K Donohue,
C Seton, K Waters
This is a case controlled study
designed to detect whether
obstructive sleep apnoea (OSA) in
obese children is associated with
an increased prevalence of the
Metabolic Syndrome. For the pur-
poses of this study, OSA is deemed
to be present when there is an
apnoea/hypopnoea index of equal
to or greater than 5 events/hour,
and obesity is defined according to
the body mass index (BMI). The
study will examine variables such
as fasting blood insulin, lipid, glu-
cose and cortisol levels, urinary
catecholamine and cortisol levels,
and blood pressure in children with
and without OSA. Comparison of
the mean values for the variables
from each group will allow a con-
clusion to be made in regard to the
relative prevalence of the
Metabolic Syndrome in each group.
A number of children have been
enrolled in this study, the results of
which will be available in January
2000.
Exercise testing in children with
cystic fibrosis
H Selvadurai, P Van Asperen, P
Cooper, C Mellis, C Blimkie
Previous studies have demonstrat-
ed that exercise training programs
benefit patients with Cystic
Fibrosis. The choice between exer-
cise programs is difficult and often
based on personal preference. The
hypothesis is that aerobic training
would be more beneficial than
resistance training. This study was

designed to compare the effects of
aerobic and resistance exercise
training programs on lung function,
aerobic capacity, strength and qual-
ity of life in 66 children with cystic
fibrosis who were admitted to the
hospital for treatment of lung infec-
tions. The children who were aged
between 8 and 16 years and who
had varying degrees of pulmonary
impairment due to Cystic Fibrosis
were randomised to receive super-
vised aerobic or resistance train-
ing, or to undergo no training pro-
gram. Analysis of the results
obtained at the completion of the
training programs indicate that
aerobic training significantly
enhances quality of life and aerobic
capacity, while improvement in
lung function, weight gain and
strength is obtained with resist-
ance training.
Patterns in medication use for
bronchiolitis at New Children's
Hospital
J Hunjan, H Kilham
Bronchiolitis, is an acute lower res-
piratory infection caused by viruses
and resulting in wheeze and cough.
Bronchiolitis accounts for most of
the lower respiratory tract infec-
tions in the first year of life. About
1% of children are admitted to hos-
pital, and this usually occurs in
winter. This study was designed to
review the medication adminis-
tered to all children admitted to
New Children’s Hospital with bron-
chiolitis during the winter of 1998.
The results of the study suggest
that during this period, the usage
of antibiotic therapy was as expect-
ed but beta agonist bronchodilator
use was much greater than expect-
ed. In addition, there was a moder-
ately high use of corticosteroids
and other bronchodilators (iprat-
ropium bromide). The main find-
ings of the study were the inappro-
priately high use of beta agonists
projects
RESEARCH REPORT
and an unexpectedly high rate of
readmission for viral bronchiolitis.
Pseudomonas Aeruginosa
infection in the New Children's
Hospital Cystic Fibrosis Clinic
B Nguy, P Van Asperen, P Cooper,
K McKay
Pseudomonas Aeruginosa (PA), an
organism which is ubiquitous in soil
and water, is recognised as the most
important pathogen in the lungs of
patients with Cystic Fibrosis. PA
can switch morphotypes from a non-
mucoid form to a mucoid form; the
latter, is usually seen only in Cystic
Fibrosis. This study was designed
to elucidate the prevalence of lower
respiratory tract infection with PA in
children attending the Cystic
Fibrosis Clinic. In addition, the age
at which infection was first detected
and the effect of infection with PA
on lung function and growth (height
and weight) was examined. The
results of sputum cultures from 264
children which were performed in
the period June 1997 to November
1998 were analysed. These records
showed that 15% of patients had
non-mucoid PA, 34% had either
mucoid PA alone or in combination
with non-mucoid PA, and the
remaining 51% of patients were free
of PA infection. The age of patients
infected with non-mucoid PA alone
was significantly younger than
those with mucoid PA, and the FEV1
and FVC (measures of lung func-
tion) were significantly lower in
those patients infected with the
mucoid form of PA. The rate of
growth of the children was unaffect-
ed by infection with either mucoid or
non-mucoid PA. This study has
shown that the prevalence of PA
infection increases with age, and
that infection with mucoid PA is
associated with lower lung function
but has no association with the rate
of growth of height or weight.
1999
Pulmozyme Early Intervention
Trial (PEIT)
P Cooper, P Van Asperen, C Mellis,
K Magoon, L Smith
This international, multicentre,
randomised, placebo-controlled,
double-blind study is investigating
the long-term effects of
Pulmozyme. Pulmozyme (or dor-
nase alpha) is an enzyme which
breaks down DNA in sputum of
patients with chronic airway infec-
tion and improves sputum clear-
ance. The aim of this study is to
examine the effects of Pulmozyme
on the pulmonary function of chil-
dren with Cystic Fibrosis and 'nor-
mal' lung function (FVC greater
than 85% predicted) aged between
6 and 10 years. Children seen in
the New Children's Hospital clinic
were entered into the study in
December 1997 and will complete
the study in late 1999. The results
of the study incorporating the data
from all centres based in Australia
and overseas will be available in
late 2000.
Repeated hypoxia during early
development of piglets:
neuromodulator and
neuropathological
consequences
K Waters, J Earl, K Tinworth
In many cases, repeated apnoea
during infancy is caused by a struc-
tural abnormality of the face or
upper airway. If left untreated,
such repetitive apnoea are linked
with blood gas disturbances, fail-
ure-to-thrive, high blood pressure
and developmental delay. Death
from sudden infant death syndrome
(SIDS) is likely to be an extreme
consequence of repeated apnoea in
infancy, and evidence exists to
show that infants who died from
SIDS had experienced hypoxia
before death. In this long-term
study, piglets are used as an animal
37

RESEARCH REPORT
model of cardio-respiratory devel-
opment during infancy, to investi-
gate of the consequences of repet-
itive apnoea. The animals undergo
episodes that mimic repeated
apnoea, and are monitored to deter-
mine whether this can cause abnor-
mal control of breathing. In addi-
tion, assessment of disturbed brain
function, indicated by altered levels
of neurotransmitters or by structur-
al abnormalities of brain cells
equivalent to those found at post-
mortem in SIDS infants, is per-
formed.
Study into the effects of general
anaesthesia on ventilatory
control and upper airway
control in children with
obstructive sleep apnoea (OSA)
K Waters, P Stewart, R De La
Eva, F McBrien, S Wharton, M
Hinder, D Baines
In this study, a group of 35 children
undergoing tonsillectomy for the
treatment of OSA will have meas-
urements of upper airway and res-
piratory control made after induc-
tion of anaesthesia and before sur-
gery. Upper airway closing pres-
sures are measured via face or nose
masks after anaesthesia is induced
by inhalation. Change in minute
ventilation (breathing rate and
depth) in response to a rise in car-
bon dioxide levels is also measured
while the child is anaesthetised.
These measurements are repeated
after the intravenous administra-
tion of a standard dose of an opiate
analgesic (morphine-like painkiller).
The same measurements are be
made in a group of children without
OSA who are undergoing a compa-
rable general anaesthetic for sur-
gery that is not related to the upper
airway. The results obtained in
each group are being analysed and
compared as the total cohort of
children have been recruited.
38
projects
1999
Children's Hospital
Institute of Sports
Medicine (CHISM)
Validation of the shuttle test in
paediatric cystic fibrosis and
assessment of in-patient short
term strength and
cardiorespiratory fitness
exercise programs on
pulmonary function in children
with cystic fibrosis
H Selvadurai, P Van Asperen, C
Mellis, P Cooper, C Blimkie
The purposes of this project are
twofold: first, to determine the
validity of a simple shuttle run test
in determining maximal function
limited cardiorespiratory capacity
in children with Cystic Fibrosis,
and second, to evaluate the effec-
tiveness of in-patient strength and
cardiorespiratory conditioning pro-
grams on pulmonary function dur-
ing short term hospital care.
Results from the first study will
indicate whether the shuttle test
can be used as a cheap and valid
replacement for the more expen-
sive laboratory test of cardiorespi-
ratory fitness in these patients, and
the second study will provide
insight about the effectiveness of
different exercise programs to
maintain or enhance lung function
during short course hospitalisation.
Bones, Joints,
Muscle and Skin
Orthopaedic Surgery
Bone marrow injections in the
treatment of simple bone cysts
IR Barrett, P Gibbons
A prospective study using autoge-
nous bone marrow aspirated from
the iliac crest to treat simple bone
cysts. Preliminary results suggest
earlier healing with a reduced inci-
dence of pathological fractures.
Chronic patella dislocation
E Pickvance, MC Bellemore
Clinical review of the Stanisavljevic
procedure in patients with chronic
dislocation of the patella. This
review found that chronic patellar
dislocations were due to: nail patel-
la syndrome, Down's Syndromeand
other congenital abnormalities.
Tibial callus distraction in
skeletally immature rabbits: the
effect of Pamidronate in
reducing osteoporosis
DG Little, MS Cornell, C Cowell, R
Howman-Giles, J Briody, S
Arbuckle, C Cooke-Yarborough
Osteoporosis is a major complica-
tion in children undergoing limb
lengthening and reconstruction. It
can prolong rehabilitation and lead
to fractures. Pamidronate is being
used in an established animal
model to determine the effective-
ness of this drug in combating
osteoporosis before clinical trials
commence in these patients.

Orthopaedic Surgery and
Institute of Pathology
Perthes disease and coagulation
abnormalities
P Gibbons, MC Bellemore, A
Lammi, B Webster
Perthes disease is due to avascular
necrosis of the capital epiphysis.
The cause of the avascular necrosis
is uncertain, however, there is evi-
dence of an associated clotting
abnormality. This study will deter-
mine whether patients have a coag-
ulation abnormality and whether it
reflects the severity or progression
of the disease.
Ray Williams Institute of
Paediatric Endocrinology,
Diabetes and Metabolism
The skeletal adaptations to
exercise in prepubertal athletes
and normal children
H Woodhead, CJR Blimkie, C
Cowell
This study is examining the effects
of intense exercise (elite swim-
mers, tennis players) on the skele-
ton in children age 7-11. Several
outcome measures are examined;
volumetric bone density, structural
properties of the lower limbs are
assessed using MRI for geometry
at the midfemur and trabecular
architecture at the distal tibia, and
mechanical properties of the calca-
neus using ultrasound densitome-
try. Study recruitment commenced
in 1998. The development of the
MRI and ultrasound techniques
have been completed this year. MRI
has been shown to be very precise
and reproducible for assessment of
geometry at the midfemur.
projects
RESEARCH REPORT
Rehabilitation and
Neurosurgery
Management of spasticity in
children with continuous
intrathecal baclofen infusion - a
pilot study
A Scheinberg, S O'Flaherty, R
Chaseling
This research aims to evaluate the
use of a treatment to assist with
the management of spasticity
(muscle stiffness) in children.
Spasticity is seen in children with
traumatic brain injury, spinal injury
and cerebral palsy. The project will
test the hypothesis that Continuous
Intrathecal Baclofen Infusion (CIBI)
improves functioning in children
with spasticity. It involves the
implantation of a programmable
pump which delivers an anti-spas-
ticity medication (Baclofen) via a
catheter into the child’s spinal
fluid. Although there is limited lit-
erature available on the use of CIBI
in children, this management has
been used effectively in adults with
spasticity of cerebral and spinal
origin since 1985. Intrathecal
Baclofen provides a chance for the
child to gain confidence with self
care and mobility with consequent
effects on their sense of well being
and worth. The study will involve a
prospective trial of two children
who are implanted with a pump.
Outcomes will be measured with
the Modified Ashworth Scale,
WeeFIM/FIM (Functional Indepen-
dence Measure) and GMFM (Gross
Motor Function Measure) scores.
The expected duration will be six
months. The data obtained from
this pilot study of 2 children will be
used to judge whether either of the
children experiences improvements
that are of clinical significance. If
significant improvements are
found, the methods used will war-
rant a trial of a larger group of
patients.
1999
University Department of
Paediatrics and Child
Health
Muscle fibre type, muscle fatty
acid composition and family
history of insulin resistance in
young children
LA Baur, J O'Connor, LH Storlien
Resistance to insulin's action is
related to a cluster of common dis-
orders including non-insulin-
dependent diabetes and obesity.
Muscle is the major target of
insulin's action on sugar metabo-
lism and defects in muscle may
account for the development of
insulin resistance. In this study,
samples of muscle taken from
babies undergoing planned surgery
were analysed. Babies of mothers
with high fasting levels of insulin
and triglyceride (ie insulin resist-
ant mothers) were found to have a
characteristic muscle membrane
lipid composition. This suggests
that the predisposition to diabetes
and related diseases is evident, at
least at a muscle cell level, even in
the first year of life.
Western Sydney Genetics
Program (Academic Unit
In Medical Genetics)
Pamidromate therapy in
osteogenesis imperfecta
D Sillence, J Briody, J Ault, C
Cowell, R Howman-Giles
The present trial is a randomised
cross-over 2 year trial of Cyclic
Intravenous Pamidronate to treat
the osteoporosis of children and
adolescents with the brittle bone
disorder , Osteogenesis Imperfecta.
While the final outcome will not be
known until July 2000, the prelimi-
nary results confirm our experience
in an earlier trial. Children in
39

RESEARCH REPORT
wheelchairs can now walk and for
these very disabled children the
breakthrough has been like a mira-
cle. The study incorporates sever-
al sub-studies including a study to
determine the best monitoring
tests for this new therapy.
Children's Hospital
Institute of Sports
Medicine
A comparison of skeletal
muscle fat metabolism during
long-duration exercise in pre-
and post-pubertal girls
F Thomas, CJR Blimkie, H
O’Connor, C Thompson, C Cowell,
G Sholler, A Kemp
Fat metabolism during long-dura-
tion exercise is believed to be medi-
ated in part by estrogen status.
Estrogen is believed to provide
females with a metabolic advan-
tage over males in performance of
long duration exercise. This study
will compare the importance of
estrogen as a regulator of peripher-
al and intra-myocellular fat metab-
olism in pre-pubertal (low estrogen
status) and post-pubertal girls
(high estrogen) during bouts of
long-duration submaximal exer-
cise. Information from this study
may provide insight about the role
of estrogen in the regulation of fat
metabolism, and the results may be
useful in prescribing exercise for
weight management and fat loss
during the childhood years.
Development of a magnetic
resonance imaging technique
for in-vivo quantification of
cancellous bone architecture in
children
C Blimkie, M Braun, C Cowell, H
Woodhead, A Kemp
This project relates to the develop-
ment of post-processing algo-
rithms for the quantification of tra-
becular structure at the distal tibia
40
projects
1999
in children using MR imaging.
Once developed, we will be able to
quantify changes in cancellous
bone structure in response to exer-
cise and nutritional interventions.
Exercise and skeletal
adaptations in adolescents with
diabetes mellitus
N Farpour-Lambert, C JR Blimkie,
K Donaghue, C Cowell, G Sholler,
R Howman-Giles, J Briody, A
Kemp
Subjects with Diabetes Mellitus
may be at high risk for osteopenia
(reduced bone mass), and
increased risk for osteoporosis in
later life. Exercise or physical
activity may have direct mechani-
cal stimulatory effects, and both
exercise and diabetes may have
indirect and direct hormonal effects
which could either positively or
negatively influence development
of bone during growth. The purpose
of this study is to investigate the
relationship between varying levels
of exercise and skeletal adapta-
tions in male and female adoles-
cents, with Diabetes Mellitus. The
study includes 4 groups: diabetic
elite athletes, non-diabetic elite
athletes, healthy control subjects
and an inactive group of diabetic
controls. Groups will be matched
for age, maturity status, sport and
body size. Results may provide
important information about the
role of exercise in the prevention of
low bone mass in adolescents with
Diabetes Mellitus.
Factors influencing the
development of the anaerobic
energy system in children
L Ratnayake, D Garlick, CJR
Blimkie
This project will use a mixed cross-
sectional, longitudinal design to
investigate the trainability of the
anaerobic energy system in children
and adolescents. The results will
provide important information which
can be used in the training prepara-
tion of young athletes and in the
selection of athletes for specific
events based on their physiological
energy requirements.
The effect of exercise type and
mechanical load distribution on
bone adaptations in elite
adolescent female athletes
CS Duncan, CJR Blimkie, A Kemp,
J Briody, ST Burke, H Woodhead,
C Cowell, R Howman-Giles
The purpose of this study is to inves-
tigate the effects of different types of
exercise, and the importance of the
anatomical distribution of mechani-
cal loads on skeletal adaptations in
adolescent female athletes. This
study includes triathletes, swim-
mers, cyclists and runners, and the
results may provide important infor-
mation about the optimum type of
exercise to maximise skeletal adap-
tation during development, for possi-
ble prevention of osteoporosis in
later life.
The effect of intense exercise
training on bone density and
architecture in children
H Woodhead, M Silink, CT Cowell,
CJR Blimkie
This project examines both cross-
sectionally and longitudinally, the
effect in prepubertal children, of
weight-bearing versus weight-sup-
ported intense exercise on bone den-
sity and structure in 3 athletic
groups (gymnasts, tennis players
and swimmers) and a group of con-
trol subjects. Results will provide
insight into the most effective type of
exercise for optimal skeletal devel-
opment during the early childhood
years, and this information may be
used in exercise guidelines for chil-
dren for the purpose of preventing
osteoporosis in later life.

The effects of mechanical load
magnitude on skeletal
adaptations to exercise in
pre-pubertal girls
P Wiebe, C Blimkie, C Cowell, M
Braun
The purpose of this study is deter-
mine the effectiveness of moderate
and high impact exercise on skele-
tal development in pre-pubertal
girls. If one intensity of exercise is
more effective than the other, then
this information can be used in pre-
scribing exercise programs for the
possible prevention of osteoporosis
in later life.
Dermatology
Artifactual skin disease in
children
M Rogers, M Fairley, R
Santhanam
Emotionally disturbed children may
draw attention to their plight by
producing a variety of skin lesions,
by thermal or chemical burns, abra-
sions, skin painting and other
means. These children require
immediate and competent psycho-
logical help. We are reviewing the
range of presentations and of
underlying disturbances and formu-
lating a coherent approach to man-
agement.
Pathogenesis of atopic
dermatitis
P Hogan, A Kakakios
Atopic dermatitis is a common con-
dition, the pathogenesis of which is
multifactorial. A functional and
genetic study of TH-2 type cytokine
receptor mutations is being under-
taken to assess their role in patho-
genesis.
projects
RESEARCH REPORT
Spectrum of paediatric vulval
disease
G Fischer, M Rogers, T McGee, S
Young
This is a clinical audit of vulval dis-
ease in prepubertal children pre-
senting to dermatologist, gynaecol-
ogist and general practitioner. The
aim is to define the clinical spec-
trum and frequency of conditions
and compare referral patterns to
different disciplines.
The clinical presentations of
cutaneous lymphatic
malformations
M Rogers
The clinical presentations of
lymphatic malformations are pro-
tean and often mimic other condi-
tions. A review of the range of clin-
ical manifestations from a data
base of over 100 cases is being
undertaken.
Use of ultrasound in the
diagnosis of pilomatrixomas
M Rogers, A Lam, C Cooke-
Yarborough
Pilomatrixomas are benign cuta-
neous tumours which often calcify.
A reaction to the contained calcium
can lead to severe scarring and,
unlike the approach to many
benign tumours in children,
removal is indicated. We confirmed
the usefulness of ultrasound in
supporting the clinical diagnosis.
1999
Cancer and
Leukaemia
Oncology
Studies and trials in childhood
leukaemia, brain tumours and
solid tumours
F Alvaro, D Barbaric, M Bergin, C
Cooke-Yarborough, L Dalla Pozza,
SJ Kellie, L Lau, E McCahon, GB
McCowage, W Nightingale, L
Pearson, PJ Shaw, MM Stevens, N
Stuart
The Oncology Unit is a founding
member of the Australian and New
Zealand Children’s Cancer Study
Group Incorporated (ANZ CCSG),
and participates in trials of therapy
conducted by ANZ CCSG. These
trials seek to improve long-term
survival in patients receiving first-
line therapy, to lengthen survival in
patients who have relapsed after
earlier therapy, and where possible,
to lessen side-effects of therapy,
particularly infection. Trials are
continuing in various cancers of
childhood, including acute lym-
phoblastic leukaemia, acute non-
lymphoblastic leukaemia, medul-
loblastoma and other types of brain
tumours, neuroblastoma, Wilms’
tumour, rhabdomyosarcoma, and
hepatoblastoma. The Oncology
Unit has received preliminary
approval to become a member of
Pediatric Oncology Group (POG), a
major cooperative childhood cancer
research group in the United
States. Membership will permit
Oncology Unit patients with rarer
cancers to be registered on trials
conducted by POG. The Oncology
Unit is also fostering a cooperative
relationship with the Berlin-
Frankfurt-Munster childhood leuk-
aemia cooperative group in
Germany. BFM are considered the
world’s leaders in the treatment of
41

RESEARCH REPORT
childhood acute lymphoblastic
leukaemia. The Oncology Unit is
currently using the BFM-1995 pro-
tocol for treatment of acute lym-
phoblastic leukaemia. The
Oncology Unit is also studying the
epidemiology of childhood cancer,
with special reference to the occur-
rence of cancer in siblings, and in
familial cancer syndromes.
Bone marrow and stem cell
transplantation studies
A Antonenas, M Bergin, K
Bradstock, L Dalla Pozza, SJ
Kellie, S Kossard, B Kramer, GB
McCowage, B Meares, GB
McCowage, L Pearson, M Rogers,
PJ Shaw, MM Stevens, N Stuart
Bone marrow transplantation
(BMT) and stem cell transplanta-
tion offer improved prospects for
cure for children with previously
drug-resistant forms of leukaemia
and other types of childhood cancer
and other life-threatening disor-
ders. The Oncology Unit has per-
formed more than 200 BMTs. The
Oncology Unit is accredited by the
Australian Bone Marrow Donor
Registry, and participates in trials
conducted by the International
Bone Marrow Transplant Registry,
as well as continuing our own stud-
ies. Current trials and studies seek
to provide more effective condition-
ing regimens for BMT in severe
aplastic leukaemia. Additional
studies are investigating methods
of increasing yields of harvested
stem cells while reducing yields of
unwanted cells, methods of com-
bining BMT with immunotherapy
for patients with advanced neurob-
lastoma, and investigation of poor
regrowth of scalp hair following
BMT.
42
projects
1999
Metabolism of drugs used to
treat cancer
D Barbaric, M Bergin, D Carr, J
Coakley, L Dalla Pozza, J Earl, SJ
Kellie, E McCahon, GB McCowage,
K Montgomery, C Nath, PJ Shaw,
MM Stevens
The Oncology Unit undertakes
ongoing studies to investigate the
metabolism of drugs used to treat
childhood cancer and to condition
patients for bone marrow trans-
plantation, to identify more effec-
tive methods of administration and
dosage; these studies have already
influenced methods for administra-
tion of melphalan in bone marrow
transplant conditioning regimes,
and for administration of vin-
cristine in the treatment of brain
tumours.
Studies in long-term survivors
of childhood cancer
V Ahern, B C Cowell, Crawford, G
Cummins, L Delbridge, D
Handelsman, A Lam, H Martin, K
Matthews, K Mekertichian, J
Merrick, K Steinbeck, H
Somerville, J Sommerville, G
Stevens, MM Stevens.
The Oncology Unit has treated
more than 2200 children and young
people for cancer since 1976, with
more than 1600 survivors. Overall
three-quarters of today’s young
patients with leukaemia or cancer
can expect to be cured of their dis-
ease. Formal follow-up and evalua-
tion of all long-term survivors has
become necessary, to ensure that
after-effects of therapy are recog-
nised and managed appropriately,
to provide counselling, support and
advocacy for these young people,
and to ensure that their quality of
life is optimal. Ongoing studies
include evaluation of fertility in
male long-term survivors of child-
hood malignancy, evaluation of
reproductive capacity and
endocrine function in female sur-
vivors of childhood cancer, thyroid
disorders in long-term survivors of
childhood cancer, evaluation of
anaesthetic problems and risk in
patients requiring thyroidectomy
following irradiation given as part
of treatment for childhood cancer,
psychosocial aspects of long term
survival after childhood malignan-
cy, and quality of life in young
adults following survival of child-
hood malignancy.
Oncology, Oncology
Research Unit and
Institute of Pathology
The establishment of a
paediatric tumour bank
L Coupland, L Dalla-Pozza, C
Cooke-Yarborough, S Arbuckle, B
Webster, J Byrne
The study of cancer is often imped-
ed by a lack of suitable tumour
material, and we have therefore
established Australia’s first paedi-
atric tumour bank. The tumour
bank consists of tumour and refer-
ence tissue samples, and a comput-
erised database describing these
samples and the patients from
which they came (patients’ names
are of course omitted for confiden-
tiality). The tumour bank can be
contacted via the World Wide Web,
and samples will be made available
to cancer researchers within the
hospital and externally. The
tumour bank will also be used to
develop new diagnostic tests for
the hospital’s oncology patients.

Oncology Research Unit
A transgenic mouse model of
D52 function in the mammary
gland
C Nourse, J Joya, E Hardeman, J
Byrne
This project was undertaken in col-
laboration with the Children’s
Medical Research Institute. In
order to understand how D52 pro-
teins function at a tissue level, we
have made a transgenic mouse in
which the human D52 protein is
expressed within the mouse mam-
mary gland. Comparing glands
from transgenic and wild-type (nor-
mal) mice will demonstrate the
importance of D52 protein function
in mammary gland development
and function, as well as, whether
overexpression of this protein caus-
es cancer.
Determining the molecular
functions of the novel D52
protein family
S Wilson, C Nourse, P Gunning, J
Byrne
Whilst studying active genes in
breast cancers, we have identified a
new group of genes and proteins,
the D52 family. Studies by other
groups have also shown that these
proteins may be present at
increased levels in other cancers.
Our recent work indicates that
many different proteins could
derive from each individual D52-
like gene, suggesting diverse and
potentially complex functions for
these proteins. Using the yeast 2-
hybrid system, we have also identi-
fied proteins, including one deriv-
ing from a novel gene, which inter-
act with either all, or subsets of,
the D52-like proteins tested. As
these partner proteins’ functions
are likely to shed light on those of
D52-like proteins, we anticipate
projects
RESEARCH REPORT
that further studying these interac-
tions will indicate how D52-like
protein expression may cause or
promote cancer.
Regulation of cell structure
during the cell cycle
J Percival, RP Weinberger, P
Gunning
It has long been known that cancer
cells undergo a profound change in
cell shape and display uncontrolled
cell division. We suspect that the
changes in shape directly play a
role in altered cell division and
have therefore initiated a project to
define the relationship between
internal cell structure and progres-
sion through the cell cycle. Our
results indicate that there is an
extensive remodelling of the actin
cytoskeleton, the system most
responsible for cell shape, prior to
transit of the cell through the major
cell cycle check point, the R point.
We have found that the different
types (isoforms) of actin and
tropomyosin, the major building
blocks of the actin cytoskeleton,
are segregated into different com-
partments early in the cell cycle.
This has led to a new view of the
internal organisation of the cell in
which different isoforms of the
major structural proteins can drive
the creation of intracellular com-
partments. In one specific case we
have been able to provide direct
evidence that a specific component
of the actin cytoskeleton, the
tropomyosin isoform Tm5NM1/2, is
associated with the Golgi appara-
tus.
1999
Oncology Research Unit,
Oncology and Westmead
Hospital
Expression of D52 proteins in
human cancer
R Balleine, L Dalla-Pozza, C
Clarke, J Byrne
In order to increase our knowledge
of how D52-like proteins are
expressed in cancer cells, we have
examined the expression of D52
protein in a series of human breast
cancers. We found that D52 pro-
tein was detectable in the cancer
cells of most breast tumours, and
that an increased D52 gene copy
number was reflected by an
increased amount of hD52 protein.
This indicates that the D52 gene
could be a critical target in the
development of some breast can-
cers. We have also obtained anti-
bodies to other D52-like proteins
and are collecting bone marrow
samples from leukemia patients, in
order to perform similar analyses in
leukemic cells.
Oncology Research Unit
and Children’s Medical
Research Institute
Function of actin and
tropomyosin isoforms
N Bryce, A Singh, V Ferguson, H
Qin, J Percival, C Dufour, P
Gunning, PL Jeffrey, E Hardeman,
RP Weinberger
The discovery that different actins
and tropomyosins can be targeted
to different sites within cells has
suggested that they have different
functional roles. To test this, we
have used gene transfection to
change the expression of these iso-
forms in mouse myoblasts. We
have found that both actin and
tropomyosin isoforms impact on
43

RESEARCH REPORT
cell shape, cell attachment and
organisation of internal structures.
The results indicate that actin and
tropomyosin isoforms are informa-
tive for the regulation of a number
of fundamental cell processes. The
finding that actin and tropomyosin
isoforms are functionally distinct
and mark different parts of a cell,
suggests a potential role for them
in diagnostic pathology. Changes
in the location or presence of spe-
cific isoforms should therefore be
diagnostic for alterations in cell
function.
Genetic manipulation of
tropomyosin genes in mice
J Hook, G Schevzov, H Qin, V
Nikolarakis, RP Weinberger, J
Meaney, PL Jeffrey, J Joya, E
Hardeman, P Gunning
Our understanding of the role of
tropomyosins and actins in regula-
tion of cell and tissue structure,
and its role in cancer is only unam-
biguously demonstrated by geneti-
cally manipulating a whole organ-
ism. We have taken three
approaches using mice as the tar-
get organism. First, we have made
transgenic mice which inappropri-
ately express two different
tropomyosins in the brain and are
examining their impact on brain
structure. Second, we are develop-
ing gene "Knock-out" technology to
create mice which lack a functional
Tm5NM gene. Finally, we are
changing the mouse beta-actin
gene to make it produce a gamma-
actin protein. The resulting mice
will be tested for changes in cell
function and predisposition to can-
cer. We are particularly interested
in changes in cell pathology and
how it relates to altered function.
44
projects
1999
Oncology Research Unit
and Gene Therapy
Research Unit
Protection of bone marrow
stem cells from chemotherapy
toxicity by gene transfer of
methylguanine methyl-
transferase
B Kramer, P Gunning, I Alexander,
GB McCowage
Most of the side effects of cancer
chemotherapy occur because the
bone marrow is damaged by the
chemotherapy drugs. In this proj-
ect we aim to protect the bone mar-
row using a gene therapy approach.
We are developing techniques to
introduce into the bone marrow
stem cells a gene named methyl-
guanine methyl transferase. The
modified stem cells will then create
a chemical which protects them
from the chemotherapy drugs. The
modified stem cells would then be
given back to the patient as a bone
marrow transplant, and hopefully
subsequent chemotherapy would
have less toxicity since the bone
marrow would be protected from
the damage which usually occurs.
So far we have developed a special
non-toxic virus, called a vector,
which can carry the gene into the
stem cells. We have developed
techniques for purifying stem cells
from bone marrow and strategies
for introducing the virus to the
stem cells. We aim now to develop
these techniques further to the
point of conducting a clinical trial
in children with brain tumours.
Oncology Research Unit,
Oncology and Institute of
Pathology
Tropomyosins as markers of
brain tumours
RP Weinberger, C Cooke-
Yarborough, S Arbuckle, S Kellie,
P Gunning
The ability of cells to divide is
dependent on the establishment of
a contractile ring which allows the
daughter cells to separate from
each other. We have observed that
a specific tropomyosin is normally
found in the contractile ring but not
found in non-dividing cells in the
brain after birth. This initially sug-
gested to us that this tropomyosin
may be useful as a marker of divid-
ing tumour cells in the brain. Our
results have revealed that low
grade brain tumours express the
tropomyosin, but that high grade
tumours primarily do not. This
suggests that this protein may be a
useful diagnostic indicator for brain
tumours.
Use of RT-PCR for detection of
neuroblastoma
B Kramer, P Gunning, C Cooke-
Yarborough, B Webster, G
McCowage
In this project we are developing
and optimising RT-PCR to detect
tyrosine hydroxylase, a chemical
which is produced by malignant
neuroblastoma cells. The aim is to
use RT-PCR to detect sub-micro-
scopic amounts of tumour in bone
marrow and blood specimens in
order to guide therapy more pre-
cisely.

The Institute Of Pathology
Pharmacokinetic Studies
A series of experiments is under-
way to investigate the pharmacoki-
netics of drugs used in treatment of
Oncology and Renal patients. The
measurement of drug levels is crit-
ical to current and future patient
care.
projects
RESEARCH REPORT
Pharmacokinetics of melphalan
CE Nath, J Earl, P Shaw
A test dose of melphalan can be
used to predict full dose pharma-
cokinetcs although there is consid-
erable variability. We are now
investigating the causes of inter-
subject variability in order to
improve the predictability of our
model.
1999
regimes, suggesting late relapse.
The full story on the significance of
TEL/AML1 gene fusion is still to
come.
Review of paediatric referrals
with Acute Lymphoblastic
Anaemia (ALL) for Cytogenetics
(1990-1995)
A Smith, N Watson, P Sharma

Busulphan pharmacokinetics Topotecan pharmacokinetics Cytogenetic abnormalities are well

PJ Shaw, CE Nath, JW Earl, M
Vowels
We are continuing to collect further
data on the pharmacokinetics of
busulphan in conjunction with the
Oncology Department. Dose esca-
lation based upon pharmacokinetic
analysis is also being tested in con-
junction with the Oncology
Department at the Sydney
Children's Hospital.
Carboplatin pharmacokinetics
CE Nath, PJ Shaw, J Earl, B Mears
A method for measuring carbo-
platin in plasma has been devel-
oped and results have been
analysed on a small number of chil-
dren receiving the drug as part of
conditioning for bone-marrow
transplant. The effectiveness of a
single compartment model for car-
boplatin pharmacokinetics is being
evaluated.
Mycophenolic acid
pharmacokinetics
CE Nath, JW Earl, P Shaw
Mycophenolic acid is used as in
treatment of graft rejection for chil-
dren receiving bone-marrow trans-
plant. Methods are being devel-
oped to measure mycophenolic acid
in plasma, prior to commencing
pharmacokinetic studies of this
drug.
S Kellie, L Dalla-Pozza, C Stewart, characterised in ALL and high risk
CE Nath, JW Earl groups identified. We have under-
taken a 5 year review of all refer-
A method for measuring Topotecan rals from 1990-1995, detailing
has now been developed as part of age, sex, immunological markers,
a joint project with the Oncology cytogenetics, and outcome. The
Department. Pharmacokinetic diagnostic patient cohorts consist
studies of this drug, used to treat of those with normal karyotypes,
medulloblastoma, will be conduct- hyperdiploidy alone, structural
ed in conjunction with St Jude abnormalities alone and hyper-
Children's Hospital, Memphis. diploidy together with structural
abnormalities. Follow up to the
Western Sydney Genetics present has shown differences
Program (Cytogenetics) between the cohorts, which
requires further evaluation.
Frequency of TEL/AML1
rearrangements in children with
acute lymphoblastic leukaemia
(ALL) with a normal karyotype
A Smith, L Robson, N Watson, P
Sharma, G McCowage
Further work with the use of fluo-
rescence in situ hybridisation
(FISH) in defining the split or
fusion genes characteristic
t(12;21) has resulted in significant
pick up of TEL/AML1 fusion not
detected cytogenetically (as the
12p (chromosome 12 short arm)
and the 21q (chromosome 21 long
arm) are very similar in banding
pattern). Interesting new findings
in the literature have shown
TEL?AML1 fusion in the peripheral
blood of non-leukaemia blood
donors, and we have also detected
fusion in 2 adult patient referrals,
who had been cleared of leukaemia
with standard paediatric treatment

45

RESEARCH REPORT
Diabetes and
Metabolism
Ray Williams Institute of
Paediatric Endocrinology,
Diabetes and Metabolism
Comparison of Insulin Lispro
with Humulin R in children with
IDDM on a twice daily insulin
regimen
J Fairchild, C Lawton, G Ambler, N
Howard, E Westman, A Chan
The safety and efficacy of Insulin
Lispro (Humalog) in children with
IDDM on twice daily insulin is
examine in a randomised crossover
study. Glycaemic control (HbA1c,
blood glucose profiles ), frequency
and severity of hypoglycaemia ,
insuli dosages and dietary require-
ments are compared. Patient pref-
erence is assessed by question-
naire.
Five year followup of nerve
function in adolescents with
diabetes
KC Donaghue, J Fairchild, A Chan,
J King, NJ Howard, M Silink
Diabetes-related nerve damage can
cause serious problems in adults
which can lead to the risk of sud-
den death and foot disease. We
have previously found that 28% of
adolescents have abnormalities on
testing of the autonomic (involun-
tary) nervous system and 24% had
abnormalities on testing of the
peripheral (sensory) nervous sys-
tem. At 3 years of followup there
was no increase in abnormalities in
this cohort, so we plan to reassess
them five years later.
46
projects
1999
OZGROW
M Wang M, C Cowell (on behalf of
the Australasian Paediatric
Endocrine Group)
Mei Wang is coordinating the final
height project, a major undertaking
of the OZGROW Database to obtain
final heights of individuals who
have received at least one year of
GH therapy. Approximately 1000
individuals may be eligible for this
study and we have identified over
600 who have attained final height.
A preliminary analysis has been
performed on a small sample size,
examining the final height com-
pared to the parental height and
initial estimated mature height - it
is evident that mean final height is
not significantly greater than the
initial estimated mature height and
it will be interesting to see the
results once our database has
increased following data inclusion
from the larger databases in
Sydney and Melbourne.
Prepubertal glycaemic control
and diabetes complications
KC Donaghue, J Fairchild, M
Crocker, A Chan, J King, SJ Hing,
NJ Howard, M Silink
The large Diabetes Control and
Complications Study (DCCT) in
North America proved that
improved glycaemic control
reduced the risk of diabetes compli-
cations in adults and pubertal ado-
lescents. This study is designed to
determine whether glycaemic con-
trol is important for complications
in prepubertal children. The child is
more at risk of the adverse effects
of hypoglycaemia due to improved
glycaemic control.
Prevalence of diabetes
complications six years after
diagnosis in NSW
KC Donaghue, J Fairchild, J
Cusumano, C Verge, A Chan, SJ
Hing, NJ Howard, M Silink
This study assesses diabetes
microvascular complications in a
population-based incident cohort of
childhood diabetes in NSW. This
cohort was diagnosed in 1990-1992
so the effect of duration will be
minimised, so the potential effect
of other factors such as blood pres-
sure, age and pubertal staging and
health care utilisation can be exam-
ined.
Psychological and
microvascular long-term
complications of childhood
onset diabetes
K Donaghue, L Cutler, K Nunn, M
Kohn, M Silink
This study is a reassessment of
188 young adults (aged 18-26
years) with IDDM who were fol-
lowed from childhood and assessed
for diabetes microvascular compli-
cations (eye and kidney disease)
during adolescence at the Diabetes
Complications Assessment Service.
The study will examine whether
longer prepubertal diabetes dura-
tion causes more severe diabetes
microvascular complications (retin-
opathy and micralbuminuria) and
whether psychological morbidity
and reduced quality of life are more
common in those with less severe
microvascular complications. The
dual aims of normal psychosocial
development and minimisation of
the long-term microvascular com-
plications of diabetes may be con-
tradictory in real life. This study
will demonstrate the risks for both
outcomes in young adults who
were diagnosed with diabetes
before puberty. These results will
allow planning for best overall out-
comes for children with diabetes.

Critically Ill Child
Anaesthesia
Effectiveness of three different
taping techniques for securing
IV cannulae
F Found, D Baines
The fixation of intravenous cannu-
lae is always difficult in children
due to their uncooperative nature.
The authors are investigating the
pull out strength of three different
taping techniques and several dif-
ferent types of adhesive tape used
for the fixation of intravenous can-
nulae. They have used a PVC pipe
as the test arm, with a blinded
tester applying a standard force to
the test cannula. The pull-out force
being measured with a force gauge.
Postoperative haemorrhage
following adenotonsillectomy:
a 10 year review
S Wharton
Surgical and anaesthesia tech-
niques for adenotonsillectomy have
advanced over the past 10 years.
This survey has been undertaken to
acertain the incidence of postoper-
ative haemorrhage and to attempt
to discover any contributing fac-
tors.
Emergency
A comparison of different forms
of therapy for children with
acute severe asthma
G Browne, B Fasher, M McCaskill
This study is a comparison between
the use of intravenous salbutamol
as a slow bolus infusion and fre-
quent nebulised ipratropium bro-
mide in children presenting to the
Emergency Department with acute
severe asthma. The results of this
projects
RESEARCH REPORT 1999
study will then be incorporated into Emergency Department
a clinical pathway for the manage- resuscitation
ment of acute severe asthma in the AJ Cocks, G Browne, M McCaskill,
ED. B Fasher
A review of children presenting Clinical study looking at consecu-
with paracetamol ingestion to tive children presenting to the
an emergency department emergency department over a 6
K Currow, G Browne, M McCaskill, month period requiring major
B Fasher resuscitation. The study is evaluat-
ing different levels of critical care
This study reviews the presenta- administered to these children,
tion, assessment and outcome of time of disposition from the ED, to
100 consecutive cases of potential their final destination and ultimate
paracetamol ingestion presenting outcome.
to the emergency department. A
protocol will be developed to stan- Neonatology and Grace
dardise the continued use of
panadol in the ED.
Neonatal Nursery
A randomised controlled trial of
Children presenting with
clamped and unclamped gastric
asthma to the Emergency
tubes in ventilated neonates
Department: Criteria for safe
once feeds have been
discharge home
commenced
M McCaskill, G Browne, B Fasher
K Psaila, D Campbell
In this study the quality and clini-
The purpose of this study is to
cal usefulness of the standard cri-
examine the effect of two types of
teria used in the emergency depart-
feeding practices on the incidence
ment for the discharge of children
of feed intolerance and sepsis in
to home will be reviewed. The prac-
ventilated neonates. This research
tical aspects of developing this into
is being undertaken as a conse-
an appropriate protocol will then be
quence of questioning current
evaluated. Then a protocol will be
nursing practice. Traditionally all
developed to standardise discharge
neonates who have required venti-
criteria and this will be evaluated
latory support have had gastric
by assessing outcome.
tubes inserted and left open to air.
This study will establish whether
Emergency department
the current practice is safe and effi-
management of children with
cacious
supraventricular tachycardia
(SVT)
Automated sequential illness
D Holley, G Browne, M McCaskill,
severity measures as a tool for
B Fasher
assessment of NICU workload
R Halliday, K Spence
Clinical study looking at the initial
evaluation, management and out-
The reporting of NICU activity has
come of children presenting with
largely been restricted to bed occu-
supraventricular tachycardia to the
pancy as well as ventilator days.
emergency department. This will
While this may be very useful in
help determine trends in the recent
perinatal centres in which respira-
management of SVT in the ED envi-
tory disease represents a large
ronment.
47
 projects
RESEARCH REPORT 1999

Name - Alexandra. Age 7.

“When I’m bigger, I want to make lots of cakes.
Chocolate is my favourite.”

48

component of the workload this is
not so for non-perinatal centres.
The aim of our study was to add ill-
ness severity scores for all patients
within the unit on a given day to
provide a "unit" illness severity
score and to calculate this score
sequentially for a given time peri-
od. Over the study period the
median bed occupancy was 4 for
ventilator beds and 17 in total. The
median "unit" was illness severity
score was 38. Whilst there was lit-
tle secular variation in total bed
occupancy and ventilator bed occu-
pancy there was marked variation
in the total "unit" illness severity
score. This method of measuring
illness severity may be a more use-
ful tool to assess NICU needs in
terms of unit staffing and resource
utilisation.
Implementation and evaluation
of the Newborn Individualised
Developmental Care and
Assessment Program (NIDCAP)
in Grace Neonatal Nursery
(GNN)
H Hardy, K Spence
There is increasing evidence that
the NICU environment involves
inappropriate sensory experience
which stands in stark mismatch to
the environment expected by the
developing nervous system. NID-
CAP is a developmentally support-
ive system of care aimed at chang-
ing the focus of medical and nurs-
ing care to the patient and family.
The present study aims to assess
the impact of NIDCAP on medical
outcome measures, on the develop-
mental and behavioural outcome at
six months post-term. Other aims
are to evaluate the influence on the
exposure to NIDCAP on nurses’
opinions about aspects of neonatal
nursing, and to compare the cul-
ture in the nursery prior to and
after implementation. Data from
the pre-study cohort has been col-
projects
RESEARCH REPORT
lected, the response rate from the
follow-up questionnaires is 78%.
The NIDCAP training of staff and
the implementation of the
Individualised Family Focused
Philosophy into the nursery is on-
going. It is anticipated the follow-
up questionnaires for the post-
study cohort will occur at the end
of the year 2000.
Increasing the reliability of
weighing procedures for
ventilated neonates in the
Neonatal Intensive Care Unit
J Smith, K Spence
Infant weights are used for calcu-
lating fluid requirements, drug
dosages, assessment of cardiac and
renal function as well as nutrition-
al status and growth patterns. An
informal survey carried out in the
unit revealed that there is a wide
range in practices throughout NSW
as regards weighing techniques
and that some of these techniques
such a weighing an infant while
connected to a ventilator may be
inaccurate. This study is planning
to test the hypothesis that it is
more accurate to disconnect the
infant from the ventilator when
weighing ventilated infants in the
neonatal unit.
Investigations into the validity
and reliability of the Pain
Assessment Tool in neonates
K Spence, J Schiefelbein, D Gillies,
S Nagy
The Pain Assessment Tool (PAT)
score is used to assess the pain lev-
els of neonates in the NICU of the
New Children’s Hospital. However
this tool has not been tested for
inter-rater reliability and validity.
During this project both inter-rater
reliability and validity of the PAT
score will be assessed in neonates
to the NICU. To test whether the
PAT score is reliable and valid in
term and preterm neonates and
1999
those that have and have not had
surgery the reliability and validity
for these groups of neonates will
also be calculated. Validity will be
tested using salivary cortisol, other
pain assessment tools and mother’s
rating of perception of pain in their
infants.
Outcomes of newborn
encephalopathy in the term
infant
N Badawi, J Kurinczuk, J Keogh, M
Baron-Hay, G Dixon, J Valentine, F
Stanley, P Burton, P Pemberton, S
Zubrick, S Silburn
Traditionally newborn encephal-
opathy is assumed to have its ori-
gins during labour and is often
described as ‘birth asphyxia’.
Most previous studies have been
predicated on this view. In 1996,
we completed recruitment of 276
cases of term newborn
encephalopathy and 564 randomly
selected controls. Analysis of the
case control data has elucidated a
series of independent preconcep-
tional, antepartum and intrapartum
factors. These factors included
employment status, health insur-
ance status, a family history of
seizures or other neurological dis-
ease, infertility treatment, mater-
nal thyroid disease, severe pre-
eclampsia, bleeding, a clinically
diagnosed viral illness, not to have
drunk alcohol and to have a placen-
ta described at delivery as abnor-
mal. Intrauterine growth retarda-
tion and postmaturity were also
risk factors as were maternal
pyrexia , a persistent occipito-pos-
terior position, and an acute intra-
partum event. More cases than
controls were induced, 41.5% and
30.5% respectively, and fewer
cases had Caesarean sections with-
out labour, 3.7% and 14.5% respec-
tively. Operative vaginal delivery (OR
2.34) and emergency Caesarean sec-
tion (OR 2.17) were both associated
49

RESEARCH REPORT
with an increased risk. There was
an inverse relationship between
elective Caesarean section (OR
0.17) and newborn encephalopa-
thy. Only 29% of the case infants in
the study had evidence of intra-
partum hypoxia and only 8 (5%) of
these infants had intrapartum
hypoxia without evidence of other
risk factors. We concluded that
the causes of newborn
encephalopathy are heterogeneous
and many relate to the period
before labour and delivery.
Longitudinal follow-up of the cases
and controls reached the five year
follow-up stage during 1998. To
date 8.3% of the cases and none of
the controls have been notified to
the WA Cerebral palsy register as
having cerebral palsy. This propor-
tion is likely to increase as the pop-
ulation of children ages and are
diagnosed and notified to the regis-
ter. To date 13% of the cases and
one control child have died. A
Griffith’s mental development
scales was performed on 83% of
the eligible cases born in the met-
ropolitan area and 80% of the con-
trol infants. The mean general
quotient (GQ score) for the cases
was 102 compared to 113 in the
controls (P<0.0001). Of the cases
assessed, 21% were more than two
standard deviations below the gen-
eral population mean derived from
the control data, compared to only
2.3% of the controls. A full neuro-
logical assessment is carried out
when the children are three years
old and an assessment of verbal
and non-verbal intelligence, verbal
reasoning, temperament, behav-
ioural and mental health problems
is carried out at age five years.
The latter two series of assess-
ments are still under way.
50
projects
1999
Proneness to moral affect and
bereavement outcome
following perinatal death
P Barr
It is only recently that the intensity
and duration of grief following the
death of a baby in the perinatal
period has been widely appreciat-
ed. The purpose of the present
study is to attempt to understand
the nature of perinatal grief and
ascertain whether proneness to
moral emotion is an important
determinant of outcome following
perinatal bereavement. The study
may help identify those parents at
risk of pathological grief for whom
additional counselling and support
services might be helpful and may
also increase the therapeutic suc-
cess of counselling. Mother and
fathers experiencing a stillbirth
(>20 weeks gestation) or neonatal
death (<28 days) are approached
and invited to participate in this
multicentre study which examines
the proneness to moral emotions
and the outcome for perinatal
bereavement.
The scope of practice of
neonatal clinical nurse
consultants
K Spence, S Brazil, S Bredemeyer,
J Nash, J Dawson, K Lindrea, M
Morritt, D Andrews, S Petty
This study evaluates the activity of
the role in relation to the standards
for advanced practice, competen-
cies for clinical nurse consultants
(CNC) and the focus report of the
NSW Nurses Association. The
results have yielded a profile of the
neonatal CNC in NSW.
Consultation and clinical practice
was the major focus of the role
occupying 24% of activities, activi-
ties involving education included
outreach, preparation and evalua-
tion of programs (26%). Research
activities varied widely among the
eight CNCs with a range from <2%
to 13%. The tool used during the
project facilitated the objective
measurement of each of the CNC
activities over a 12 month period
the tool measured quantity of serv-
ice provided, the next step is to
measure the quality of the service
delivered. Several implications for
the practice of CNCs have been
identified as a result of this study.
Nursing Academic Unit
A comparison of the analgesic
coverage provided for burned
children with that provided for
adults
S Nagy, J Crisp, D Gillies, C
Macfarlane, B Cavalletto
Previous research has shown that
the analgesic coverage provided for
children is less than that provided
for adults with similar conditions.
In recent times a number of initia-
tives have been set in place to
improve the analgesic management
of children’s pain. This comparative
study aims to investigate the
extent of such improvements by
auditing records of patients with
burn injuries, fractures of the fore-
arm or leg, or admitted for appen-
dectomy or tonsillectomy in major
paediatric and adult hospitals in
Sydney. The intentions of the study
are to describe the types and
dosages of analgesia used in the
treatment of pain and to compare
the level of coverage provided for
adults and children. All data have
been collected and data analysis
has commenced.

An international study of
nurses' approaches to children
in pain
J Ritchie, S Nagy
Despite great advances in knowl-
edge about children’s experience of
pain and despite considerable
efforts to change nurses’ practice,
children continue to have their pain
inadequately managed. In order to
develop more complex strategies to
change practice a deeper under-
standing is needed of how nurses
approach caring for children with
pain and what values, beliefs, and
attitudes underlie that care. This
study aims to explore in depth the
issues of nurses’ practice and to
explore differences in nursing care
of children with pain across nurs-
ing settings in Canada, the USA,
Australia, Switzerland and the
Netherlands. The study will
attempt to elicit nurses’ views of
the factors that make a difference
to their approaches. It is anticipat-
ed that international comparisons
may reveal some of the core rea-
sons that care is so difficult to
change. All interviews have been
completed and data analysis is in
progress.
Professional issues for nurses
caring for long-term
hospitalised children in an acute
care paediatric setting
L Brodie, M English, D Gillies, S
Nagy
Caring for children hospitalised for
long periods in acute care settings
has generated many difficulties for
nursing staff. This project aims to
identify the range of such prob-
lems and to identify strategies that
may be used to prevent them or
deal with them effectively as they
arise. Data collection has been
completed and analysis is in
progress.
projects
RESEARCH REPORT
The emotional states and
coping strategies of nurses
conducting painful procedures
on children
S Nagy, J Crisp, L Viney, C
McQuellin, J Ritchie
The aims of this project are to (a)
identify the coping strategies used
by nurses when conducting painful
procedures on children (b) identify
the types of emotions associated
with each coping and (c) develop
hypotheses about strategies are
likely to be associated with posi-
tive outcomes for nurses and for
the children for whom they care.
Oncology
End-of-life care of children
dying of cancer
S Armstrong, J Collins, P Jones, H
Kilham, E O’Riordan, MM Stevens
The Oncology Unit has a strong
commitment to providing effective
palliative care for those patients
and families for whom cure is no
longer an option. A close collabo-
ration is being undertaken with the
Vincent Fairfax Pain Unit. A joint
study by these two groups was
undertaken to allow more accurate
measurement of the severity of
symptoms such as pain and nausea
in young children, providing data
that has not previously been avail-
able anywhere. A study is being
undertaken to assess the percep-
tions of family practitioners of pal-
liative care provided to children
dying at home from progressive
malignant disease. Through our
membership of the International
Work Group on Death, Dying, and
Bereavement, we continue to par-
ticipate in international studies
seeking to better understand the
role of parent, child, and physician
in end-of-life decisions. Bear
Cottage is a children’s hospice now
1999
under construction at Manly by The
New Children’s Hospital, to provide
respite care and palliative care for
children with incurable and life-lim-
iting illnesses, and support for
their families. Bear Cottage is
scheduled to open in May 2000.
The services to be offered by Bear
Cottage have until now been
unavailable in New South Wales. A
study to evaluate the outcomes of
introduction of these services is
ongoing.
Paediatric Intensive Care
Unit
Establishment of risk of clinical
deterioration criteria in
hospitalised children
A Morrison, J Gillis, A O’Connell,
R Choong, J Cocks, G Browne, K
Hillman
The concept of preventing cardiac
arrest in patients by providing care
via an acute care team or Medical
Emergency Team has been estab-
lished in the South Western Sydney
Area Health Service. The criteria
for which a medical emergency
team is called are well defined for
the adult population, however, pae-
diatric criteria are unavailable.
This study will review, prospective-
ly, the records of all children who
are inpatients at the New
Children’s Hospital, and have had
an arrest call. The purpose of the
review is to determine if earlier
intervention may have prevented
the arrest and to determine which
criteria are most significant.
Interim analysis of the results sug-
gests that criteria used in the adult
population is inappropriate for pae-
diatrics. Further work is underway
to determine more specific paedi-
atric criteria.
51

RESEARCH REPORT
Evaluation of hanging leg
weight, mid upper arm
circumference and leg length as
methods to accurately estimate
patient weight for children in
PICU
A Morrison, D Edwards, D Schell
Accurate weights are essential for
management of fluids, ventilation
and drugs for children in paediatric
intensive care. Ideally an accurate
weight should be obtained on
admission or within 24 hours of
admission. However, a weight may
be difficult to obtain due to severity
of illness and consequent instabili-
ty. Estimation of weight based on
age or visual cues are usually inac-
curate. Hanging leg weight, mid
upper arm circumference and leg
length have been evaluated as
alternative methods of assessing a
child’s weight. Results: The study
is ongoing. Interim analysis of the
first 177 patients enrolled is avail-
able. The measured weight of
these patients was between 4 and
70 kg. Linear regression analysis
suggests a strong predictive rela-
tionship between hanging leg
weight, mid upper arm circumfer-
ence and leg length. The regres-
sion model suggests that leg length
does not add significantly to the
predictive model. These results
suggest that improved accuracy of
weight estimation is possible, and
this will enhance patient care.
Evaluation of true core
temperature in the PICU
environment
L Justin, F Maxton
Accurate monitoring of core body
temperature is an important com-
ponent of the routine care of criti-
cally ill patients, serving as an indi-
cator of illness severity. It has
become evident that while tempera-
ture is the most basic of observa-
tions, there are conflicting ideas
52
projects
1999
regarding the most accurate site to
measure core temperature. Blood
temperature in the pulmonary
artery is considered to be the most
accurate, however this method is
highly invasive. Therefore another
reliable, less invasive site needs to
be identified. The goal of this study
is to evaluate which site – rectal,
axilla, tympanic, bladder and
nasopharyngeal – is the best indi-
cator of true core temperature., In
this study, the above sites will be
compared with the pulmonary
artery temperature ("gold stan-
dard") in paediatric post-operative
cardiac surgical patients. No
results are available at the time of
publication.
Inhaled nitric oxide after cardiac
surgery
OI Miller, SF Tang, DS Celermajer,
N Pigott, A Keech
In children with congenital heart
disease, pulmonary hypertension is
a significant cause of morbidity and
mortality in the post operative peri-
od. This study is an ongoing
prospective, randomised, blinded
trial of inhaled nitric oxide in post
operative infants at risk of pul-
monary hypertension. The aims
are to evaluate the number of pul-
monary hypertensive crises, time to
extubation, mortality and complica-
tions of this potentially exciting
therapy. Patient enrolment con-
cluded at the end of 1998.
Preliminary data from the first 100
randomised patients (1994-1997)
is now available. 50 patients of
each sex were studied, and the
average age of subjects was 3
months. 32 patients had Down
syndrome. 64 subjects had at least
one pulmonary hypertensive crisis,
the average number of episodes for
the whole cohort was 2 and
patients with Down syndrome had
more episodes than non Down
patients (5 v 1). There were 7
deaths, and 6 of these were associ-
ated with pulmonary hypertension.
Data is still undergoing analysis
with regard to efficacy of inhaled
nitric oxide at preventing or dimin-
ishing these episodes.
Paediatric Intensive Care
Unit and Nursing
Academic Unit
The validation of an iatrogenic
drug withdrawal assessment
tool
C Marshall, V Gilmore, S Nagy, B
Cavalleto, L Lane
Children requiring intensive care
often need narcotic analgesia in
conjunction with sedation using
benzodiazepines or other drugs to
facilitate patient care and comfort.
If their usage is prolonged, symp-
toms of drug withdrawal may
occur. Drug withdrawal may be dif-
ficult to recognise in the critically
ill patient because symptoms are
non specific and often similar to
those of other common critical ill-
nesses. This study is designed to
validate a tool constructed by Dr
Linda Franck for paediatric
patients and used at the Oakland
Children’s Hospital. If validated,
the tool will assist clinical diagno-
sis of withdrawal and be available
for further research. Patients were
enrolled into 2 groups: those at risk
of withdrawal (prolonged adminis-
tration of narcotics/benzodi-
azepines) and those not at risk of
withdrawal. A total of 60 patients
were enrolled, approximately half
in each group. Preliminary analy-
sis shows good inter- rater reliabil-
ity, however the tool is a poor dis-
criminator of withdrawal, and
therefore may not be clinically use-
ful.

Physiotherapy
The effectiveness of saline
instillation when used as an
adjunct to physiotherapy in the
intubated child
J Webber, J Follett
The aim of this study is to evaluate
the effectiveness of instilling a
saline bolus as an adjunct to treat-
ment during respiratory physio-
therapy in an intubated child. The
wet and dry weight of secretions
obtained with endo-tracheal tube
suction will be compared between
treatments when saline is either
used or omitted. From this data we
will be able to determine if instill-
ing saline down the airway during
physiotherapy results in more spu-
tum being removed from the child's
lungs than when it is omitted -
hence increasing the effectiveness
of physiotherapy treatment.
projects
RESEARCH REPORT
Development and
Behaviour
Children’s Hospital
Education Research
Institute (CHERI)
A three-state multi-attribute
evaluation of special education
outcomes
M Dowrick
In its third and final year, this
study set out to develop and admin-
ister an evaluation process which
special educators can apply within
their school settings. It has been
based upon the principles of the
Multi-Attribute Utility Analysis
Approach (MAUA) used in the
United States and was adapted for
use in Australia. The process
involves identifying desirable out-
comes for students with intellectu-
al impairments and then undertak-
ing assessment procedures to
determine these outcomes are
being achieved. The adapted
process was implemented in a
school in Sydney and in Canberra.
The participants were students
with mild, moderate or severe intel-
lectual impairments. In identifying
the desirable outcomes, stakehold-
ers such as educators, students
and parents meet to gain agree-
ment on the targeted outcomes and
potential measures. Outcomes tar-
geted included - Independent Living
Skills, Financial Management and
Communications. Data was col-
lected using parent and teacher
surveys, interviews, checklists,
student self-rating scales, curricu-
lum based assessments, tests,
enactments and observations.
Results indicated that most stu-
dents performed at a satisfactory
level on all measures of the out-
comes except sexual awareness.
1999
Each school was provided with a
detailed report that included data
collected and recommendations. A
process manual is now being
devised by Ms Dowrick to be used
by schools seeking to investigate
the abilities of their students in
possible curricula areas.
Chronic illness research series
LL Kok, J Bailey
This project aimed to investigate
the impact of chronic illness on the
academic achievement of students
in mainstream schools. The effect
of chronic illness on cognition and
learning was investigated from an
number of different perspectives.
Cognitive, educational and psy-
chosocial functioning of students
with chronic illness was also exam-
ined. The first stage of this project
identified the prevalence and types
of paediatric chronic illness in stu-
dents in mainstream education
through an audit of primary schools
in the northern region of Sydney.
Responses from schools in this
region, indicated that 1.6% of chil-
dren under twelve years of age
have a chronic condition. The next
stage of this project will investi-
gate difficulties experienced by
these students coping with the aca-
demic demands of school and their
illness, affecting their academic
performance. A model for collabo-
rative teamwork will be developed
and the special needs of children
with chronic illness will be better
met and understood.
Clinical management and
expertise in the diagnosis of
ADHD
L Gomes
ADHD is an important research
area, since diagnosis and manage-
ment remain controversial issues
for all health professionals con-
cerned. While previous studies
53

RESEARCH REPORT
have documented aspects of clini-
cal practice there is no literature on
'best practice' in managing this dis-
order. This project is being super-
vised by Dr David Dossetor,
Department of Psychological
Medicine, New Children's Hospital
and Professor Jeff Bailey. This
study aims to profile the degree of
expertise in management of ADHD
in Australia and has progressed in
two phases. Phase 1 has involved
a survey questionnaire of a satura-
tion sample of paediatricians and
child psychiatrists in Australia,
seeking information on clinicians'
experience, general knowledge,
diagnostic accuracy and manage-
ment practices with regard to
ADHD. Information from this
study will be used to construct a
profile of expertise. Phase 2
involves a survey questionnaire of
parents of children treated by the
respondents from the Phase 1
study with respect to clinical out-
comes and satisfaction. This will
provide further valuable insights
into clinical expertise. Data from
phase 1 have been collected this
year and will be analysed shortly.
Phase 2 is expected to commence
in January 1999.
Parents' and teachers'
perceptions of educational
services for students with
chronic illness
S Shui
This project investigates the con-
cerns of parents and educators
with regards to the provision of
educational services for students
with chronic illness. A survey was
distributed to 500 NSW
Department of Education and
Training Schools. Teachers were
asked to complete the survey and
also forward a copy of the survey to
parents of a child with chronic ill-
ness. A total of 121 parents and
112 teachers completed the survey.
54
projects
1999
An additional 61 schools indicated
a nil response (ie. no children in
their school with a chronic illness).
Parents and teachers were asked to
indicate the child’s chronic illness.
Over 60 different illnesses were
identified, such as cystic fibrosis,
leukaemia, diabetes, epilepsy, asth-
ma, muscular dystrophy and cancer.
Parents indicated concern for their
child’s academic performance, the
accompanying workload on a med-
ically fragile child and their child’s
emotional well being and health
while at school. Parents were also
asked to identify what they thought
their child’s concerns about educa-
tion were. Almost half of the par-
ents indicated that their child was
concerned about coping with the
school workload and falling behind
academically while almost a fifth of
parents thought their child was
worried about social aspects of
school – such as maintaining and
resuming friendships, isolation,
teasing and bullying at school.
Teachers indicated concern for the
lack of information available to
them about the student’s illness and
feelings of inadequacy in dealing
with a medical emergency.
Teachers were also worried about
student absenteeism associated
with illness and the impact of this
on their educational performance.
Information gathered from the proj-
ect has raised awareness of the dif-
ferent concerns and perspective of
parents and teachers of students
with chronic illness. It also stress-
es the importance of an effective
interface between health profes-
sionals, educators and parents for
more cohesive management of stu-
dent illness. Information obtained
from this study will form the basis
for the development of strategies
that will improve the provision of
educational services for students
with chronic illness in NSW
Department of Education and
Training schools.
Performance on the Test of
Variables of Attention (TOVA) in
children with Attention Deficit
Hyperactivity Disorder and
comparison with Conners’
rating scales
C Soo
This project commenced in August
this year and is aimed at investi-
gating the validity of using
Continuous Performance Tasks
(CPTs) in the diagnosis of ADHD.
CPTs are computer-based tasks
that have been used to examine
sustained attention deficits in chil-
dren with ADHD. The performance
of children with ADHD on the com-
puterised Test of Variables of
Attention (TOVA) in relation to
their DSM-IV subtype diagnosis
will be examined. Performance on
the TOVA will also be compared to
other sources of information cur-
rently used in the diagnosis of
ADHD such as teacher and parent
ratings of the child’s behaviour.
The design of the project and the
necessary measures were devel-
oped this year. Recruitment of chil-
dren with ADHD will commence in
1999.
CHERI and Neurogenetics
Research Unit
Social-cognitive profile of
children with
Neurofibromatosis Type 1 (NF1)
B Barton
Neurofibromatosis Type 1 (NF1) is
the most common autosomal domi-
nant genetic disorder that affects
the human nervous system.
Despite the high prevalence of this
disorder and the significant impact
on academic performance, physical
appearance and wellbeing, there is
very little literature on the psy-
chosocial development of children
with NF1. This project commenced

in August this year and aims to pro-
vide a comprehensive social and
cognitive profile of children with
NF1. Specifically it will examine
self-concept, levels of anxiety and
attention, social skills and intelli-
gence of children with NF1. The
information gained from this proj-
ect will assist in the development
of effective interventions for fami-
lies and clinicians. The design of
the project and the necessary
measures were developed this year.
Recruitment of children with NF1
will commence in 1999.
Neurogenetics Research
Unit and CHERI
The NF1 cognitive phenotype:
natural history and
pathogenesis
S Hyman, B Barton, J Bailey, K
North
Learning disability is the most
common complication of
Neurofibromatosis 1 in childhood.
We have previously studied 50 chil-
dren with NF1 and identified a radi-
ological marker on MRI associated
with the presence of cognitive
deficits. The current study will
extend our original study and
examine the natural history of cog-
nitive deficits and MRI abnormali-
ties the original cohort of patients
with NF1, as well as further evalu-
ate the relationship between the
them. In addition, we will deter-
mine the effect of NF1 on the psy-
chosocial wellbeing of the individ-
ual.
projects
RESEARCH REPORT
Nursing Academic Unit
Parents’ experiences of hospital
care for their children with
developmental disabilities: A
pilot study
P Kearney, H Wright, A Firkins, C
Macfarlane, S Nagy
This project arises out of previous
research that suggested that par-
ents of children with developmen-
tal disability face many difficulties
when their child is admitted to
acute care hospitals. This is an
interview study aimed at exploring
such experiences in order to devel-
op strategies for improving the
experiences of developmentally
disabled children and their parents
while cared for in acute care hospi-
tals.
Occupational Therapy
Establishing reliability and
validity of selected instruments
used by occupational therapists
to assess children’s handwriting
abilities
S Duff (nee Doyle), T Goyen
Occupational therapists are required
to assess, provide intervention and
make recommendations regarding
children’s handwriting ability.
Accurate and practical instruments
must be used to assist this. The
researchers have adopted a function-
al approach to handwriting assess-
ment and now are examining how
consistent, accurate and practical
these tests are. This research which
compares the performance of chil-
dren with and without handwriting
difficulties, on these tests, has
received a small grant, and ethics
approval from NCH, the NSW
Department of School Education and
the Catholic Education Office. Most
of the data collection was completed
during 1998.
1999
Evaluating the effectiveness of
preparation in reducing
psychological sequelae in
children undergoing bone
marrow transplant: A pilot
study
B Gutierrez, M Wallen, R
Rhytmeister
Preparation prior to stressful med-
ical events has been shown to
reduce negative psychological
sequelae. A preparation booklet
has been developed which educates
children and their carers about the
child’s bone marrow transplant.
This study revises the preparation
booklet and then will compare the
responses of children who receive
the preparation with a control
group who do not. Measures
include state anxiety, hospital-
related fears and post-hospital
behaviour change. The study has
received a small grant and ethics
approval. Booklet preparation was
commenced in 1998.
Test-retest, interrater and
intrarater reliability, and validity
of the Handwriting Speed Test
M Wallen
The Handwriting Speed Test, was
standardised and norm-referenced
on 1292 NSW school students. It
provides an important addition to
the available assessments of hand-
writing used with children with
special needs, where handwriting
affects their academic perform-
ance. This study examined the reli-
ability and validity of the test by
administering it to 212 school stu-
dents in Years 3 and 6. We found
the test to have very high interrater
and intrarater reliability, good test-
retest reliability and preliminary
support for one aspect of validity.
This provides valuable information
to clinicians and researchers using
the test, about its psychometric
properties and clinical and
55

RESEARCH REPORT
research relevance. A paper has
been completed and submitted for
publication.
Oncology
Psychological impact of cancer
and its treatment on children
J Collins, B Gutierrez, J Hill, K
Nunn, R Rytmeister, MM Stevens,
M Wallen
Childhood cancer, the treatment
required, and the uncertainty about
long-term outcome may cause con-
siderable psychological stress for
the children undergoing treatment
and their families. We are aware of
this, but believe our patients and
their families cope most of the time
surprisingly well with their stress-
ful situations. Studies are being
undertaken seeking to lessen unde-
sirable psychological sequelae
after bone marrow transplantation
(BMT) by adoption of methods of
psychological preparation prior to
BMT. A study is being planned to
assess the incidence of significant
depression in our patients, to
develop strategies to help provide
more effective and preventative
psychological support for such
patients.
Psychological Medicine
Development of criteria for the
effectiveness of parenting
programs
P Renner
This project was undertaken in col-
laboration with South Western
Area Health Service and Orange
Area Health Service. We compared
the efficiency of treatment and effi-
cacy of various combinations of
component programs for children
with disruptive behaviour.
56
projects
1999
Development of treatment
programs for self-mutilating
behaviour
P Renner, K Nunn
This project entailed the develop-
ment of an intervention strategy for
young people who present with
non-suicidal self-harm of the self-
mutilation type. Innovative
explanatory and intervention mod-
els are required for the complex
area of disturbed behaviours, which
have implications for a variety of
psychiatric disorders of affect regu-
lation and impulse control. The
study will develop an approach to
assessment and treatment with the
aim of preventing short and long-
term adverse outcomes.
Emotional intelligence in
adolescents: Assessment of
normal adolescents and young
people with psychiatric disorder
B Pratt, K Nunn
In comparison with a wealth of
research on general intelligence
and developing cognitive functions,
the study of emotional intelligence
and the development of emotional
processing abilities has been rela-
tively neglected. A renewed focus
on the concept of emotional intelli-
gence, as applied to both normal
development and the field of child
psychiatry, allows an alternative
approach to the diagnosis and
treatment of emotional disorder. A
review of the recent literature indi-
cates that there are virtually no
published studies which have used
performance-based measures to
comprehensively quantify patterns
of emotional processing ability in
normal and abnormal adolescent
populations. The proposed
research project ultimately seeks
to determine the clinical utility of a
battery of performance-based
measures of emotional processing
abilities as applied to adolescents
with psychiatric disorder (ie.
Asperger’s syndrome and anorexia
nervosa) and normal controls, and
to test the validity of a new three-
factor model of emotional intelli-
gence. It is anticipated that the
application of existing measures of
emotional intelligence will offer a
means of evaluating the efficacy of
therapies directed towards improv-
ing the quality of life of adolescents
who are low in emotional intelli-
gence, and that the findings of the
project will also enhance our
understanding of the psychosocial
correlates of emotional processing
abilities in young people.
Training in clinical
developmental psychology
P Renner, K Nunn
This will involve the synthesis of
clinical development research with
cognitive-behavioural models of
assessment and treatment of child
and adolescent mental health dis-
orders for testing purposes.
Psychology, Rehabilitation
and Nuclear Medicine
Cognitive fatigue in children
with brain injury
J Hendy, S Lah, A Epps, R
Howman-Giles, R Uren, E Bernard,
C Roberts
Cognitive fatigue is an under recog-
nised and yet common consequence
of brain injury in children.
Currently there are no objective
measures of cognitive fatigue.
Clinical experience in the Brain
Injury Unit of this hospital indi-
cates that a difference can be
detected between serial SPECT
studies performed when the child is
rested and after the child is cogni-
tively ‘stressed’ by demanding and
effortful thinking. The ‘stressed’
scan shows pathology not present

on the ‘rested’ scan. This project
will examine children with and chil-
dren without the symptomatology
of cognitive fatigue after brain
injury. Three SPECT studies will
be performed on all children: one
when the child is rested and one
after an intensive neuropsychologi-
cal assessment. A questionnaire to
measure levels of fatigue will be
administered to all children partici-
pating in the study. Specific neu-
ropsychological measures of atten-
tion and cognitive endurance will
be included at the beginning and
the end of the neuropsychological
assessment. In addition, parents
will be requested to complete a set
of questionnaires and check lists
measuring behavioural and psycho-
logical phenomena which may have
a similar presentation (eg. depres-
sion, behavioural disturbances,
adynamia, disorders of working
memory).
Rehabilitation and
Psychology
Attentional deficits in children
following closed head injury
F Wilkinson, R Tate, T Hannan, K
Bakker
Recent research with adult samples
has supported the theory that atten-
tional abilities are comprised of sev-
eral processes, termed: focussed
attention, sustained attention, atten-
tional shifting and encoding. This
study aims to examine the attention-
al abilities of children who have suf-
fered a head injury and to determine
the extent to which each component
of attention is susceptible to the
effects of traumatic brain injury. In
addition, this study seeks to assess
the relationship between neuropsy-
chological measures of attention and
the day to day attentional difficulties
experienced by children following a
severe head injury.
projects
RESEARCH REPORT
Cognitive functioning in
children with spina bifida and
hydrocephalus
J Hendy, C West
This project examined the intellec-
tual abilities and general coping
skills of children who have been
shunted for Hydrocephalus.
Despite often having normal intelli-
gence, these children frequently
experience difficulties at school
including increased distractibility,
lack of judgement and reasoning,
poor planning and organising skills
and learning difficulties. To date
there has been no good explanation
put forward to account for all these
difficulties. The study aimed to test
a theory that these difficulties can
be understood in terms of a disrup-
tion to the normal development and
executive functioning of the brain.
The study involved children aged
10 who have Spina Bifida and
shunted hydrocephalus with a con-
trol group of same age and intelli-
gence children without hydro-
cephalus. Data collection included
neuropsychological evaluation and
medical examination. The results
of this research will be used to
develop strategies for those indi-
viduals who have difficulties in
order to improve their functioning
in the classroom and at home. The
data is currently being analysed
and will be available in 1999.
Coping with the emergence of
sexual interest in children with
acquired brain injury
J Hendy, M Simons, A Epps, H
Dawson
This is a qualitative multidiscipli-
nary (neuropsychology, social work
and medical) research project aim-
ing to explore the issues of sexual-
ity following acquired brain injury
in children and adolescents. The
onset of puberty brings with it
changes which can be made more
1999
complicated by the effects of a
brain injury. The area of sexuality
creates additional areas of concern
for young people and their families.
Social, cultural, religious, ethical
and legal implications add to a
complex situation. Prior to this
research no specific information
was available which addressed sex-
uality issues for this group. The
project aimed to review and con-
tribute to the literature, gather
information and present this in an
accessible booklet format for
health professionals and families.
Data collection included: focus
groups and key informant inter-
views. Following data analysis, a
draft booklet was developed and
circulated for comment. It will be
completed and published in 1999.
Posttraumatic stress disorder
symptomatology in children
following motor vehicle
accidents
F Mather, T Hannan, R Tate
While motor vehicle accidents con-
stitute one of the most common
causes of traumatic injury in child-
hood, there has been little system-
atic examination of the nature and
incidence of the psychological
symptomatology subsequently
experienced by children. This study
investigated the incidence of symp-
toms of posttraumatic stress disor-
der in children who had been
involved in a motor vehicle acci-
dent. It sought to determine
whether a mild head injury result-
ing in a loss of consciousness
decreased the likelihood of experi-
encing a posttraumatic psychologi-
cal condition. The results indicated
that about three children in four
experienced significant symptoms
of posttraumatic stress disorder
around six weeks after their acci-
dents, with around 40% of these
continuing to be troubled by such
57

RESEARCH REPORT
symptoms at three months post-
accident. The presence of a mild
head injury was found to have no
effect on the likelihood of experi-
encing posttraumatic psychological
symptoms.
Social competence in children
with an acquired brain injury
T Hannan, K Bakker, R Brunsdon,
N Reynolds, M Charles
It is well known that children with
an acquired brain injury experience
a range of problems in the develop-
ment and maintenance of effective
social relationships. However, the
relative contribution of factors
believed to influence social func-
tioning is not known. Deficits in the
social performance of children are
often attributed to poorly developed
social skills. However, it is not
known whether a child with an
acquired brain injury experiences
social difficulties as a result of
social skills deficits, or whether a
more important factor is a deficit in
social cognition, which encompass-
es the perception and interpreta-
tion of social cues and the ability to
engage in efficient social problem-
solving. Additionally, the presence
of aggressive behaviour is hypothe-
sised to be a significant risk factor
for poor social performance. The
present study aims to assess these
three areas of social skills, social
cognition and incidence of behav-
iour problems of a sample of chil-
dren with an acquired brain injury,
and to clarify and examine the con-
tribution of each of these factors to
children’s social performance.
58
projects
1999
Social Work
Coping patterns of parents with
children with newly diagnosed
phenylketonuria (PKU)
B Lord, C Wastell, J Ungerer
A longitudinal study of families
with children newly diagnosed with
PKU, that looks at whether
changes in parental adjustment
take place over the first 15 months.
PKU is usually diagnosed in the
first 2 week of life and the first year
appears to be highly important in
relation to long term family adjust-
ment. In the study, parents are ini-
tially seen for assessment of their
coping and available support when
the child is 3 months of age, then
followed up a year later. In the fol-
low-up assessment, changes in the
parents' coping are identified, and
the child's emotional and social
adjustment is reviewed. The study
will enhance our understanding of
how parents cope and of the type of
educational, counselling, and sup-
port services that are required to
promote successful adjustment.
Coping patterns of parents with
children with phenylketonuria
(PKU)
B Lord, C Wastell, J Ungerer
T.Y. Nelson Department of
A study of 72 families with children
Neurology and
with PKU, aged 3 months to 12 Neurosurgery
years, that aims to identify the
important psychological and social
factors influencing the adjustment
of parents and children. To date,
the data related to mothers' adjust-
ment have been analysed, and
shown that seven, easily measured,
factors related to the emotional
impact of the child's diagnosis and
the quality of support available
explain most of the differences in
maternal adjustment. Further
work will focus on the adaptation
of fathers and how parents' coping
influences the adjustment of chil-
dren.
Speech Pathology and
Psychology
Language and cognitive
development following infant
tracheostomy
J Cowell, P Joy
Infants who have undergone long-
term tracheostomy may be at risk
for delayed cognitive and language
development due to periods of
reduced oxygen supply to the brain
and the inhibition of vocalisation
during the critical period in which
speech first emerges. Twenty 7-12
year old children who have had
long term tracheostomy in infancy
have been assessed on a range of
standardised cognitive and lan-
guage measures and their perform-
ance compared with that of age
matched controls. Results will be
analysed to determine the inci-
dence of neuropsychological and
language impairments in children
with infant tracheostomy and the
relationship of this to factors such
as duration of cannulation and
additional neurological deficits.
SYSTEMS: School Years
Screening Test for the
Evaluation of Mental Status
RA Ouvrier, J Hendy, L Bornholt,
FH Black
The development of a screening
test of higher mental function in 4 -
11 year old children has been com-
pleted and is now being trialed in
clinical situations in Australia and
overseas. Over 1200 normal chil-
dren were examined using a 46-
item test battery. Inter-rater and

test-retest reliabilities were deter-
mined. The test has been shown to
have high reliability in the detec-
tion of cognitive deficits. An article
is in press in the Journal of Child
Neurology. The Hospital is examin-
ing the marketing of this test.
University Department of
Paediatrics and Child
Health
Predictions of outcome in
sexually abused children
RK Oates, P Parkinson, BIO’Toole
Children with documented sexual
abuse were followed into adoles-
cence and young adulthood and
compared with a group of
nonabused young people. Young
people’s behaviour and psychologi-
cal functioning were assessed.
Non-offending parent’s mental
health and family functioning were
also measured. Further notifica-
tions to the Department of
Community Services, Victims
Compensation, court proceedings
against perpetrators and criminal
activity in young people were also
examined. The study is now in its
final phase the 9th year of follow
up. This is the largest and longest
controlled follow up study ever
done in this area.
Western Sydney Genetics
Program (Clinical
Genetics)
The impact on couple
relationships of predictive
testing for Huntington Disease
FH Richards, LC Adés, EA
McCusker, DO Sillence, RJ Trent,
MJ Wilson
In 1996 a longitudinal study was
commenced, one of the few studies
to date which has investigated the
projects
RESEARCH REPORT 1999
impact on couple relationships of Western Sydney Genetics
predictive testing for HD. This Program (Cytogenetics)
study has been extended to include
an 18 month data collection and to Behaviour and emotional
obtain a larger sample. disturbance in Prader-Willi
Syndrome
Towards an understanding of
S Einfeld, B Tonge, A Smith
couples' experiences of
predictive testing and living
From previous studies, we have
with the Huntington Disease
shown a distinct behavioural phe-
risk: A qualitative study notype in Prader-Willi syndrome
FH Richards (PWS). The aim is now to follow
these patients, all with appropriate
It has been acknowledged that DNA confirmation of PWS, over a
there is a need for more qualitative
longitudinal course of behaviour
research to be undertaken into the and emotional problems into ado-
experiences of those who are living lescence and compare the findings
(or have lived) with the threat of
with other young persons with
HD. This study was commenced in known syndromes and a control
December 1998 in order to gain a
group of persons with intellectual
deeper awareness of the issues fac- handicap.
ing couples where one partner is at
risk of HD. Selected couples from
the longitudinal study were invited
to participate in an in-depth inter-
view. To date, ten couples have
been interviewed (each partner
separately) - five couples from the
testing group and five from the
non-testing group. All interviews
have been conducted by the same
interviewer utilising an interview
guide covering topics relevant to
the aims of the study.
Velocardiofacial syndrome:
clinical review and evolution of
the phenotype
R Sachdev, M Wilson
A clinical review of a large cohort
of patients diagnosed at this hospi-
tal with the velo-cardio-facial
(Shprintzen) syndrome and correla-
tion with the chromosome 22 FISH
results. This involved further
assessment of patients with atypi-
cal clinical phenotypes or laborato-
ry results; and identification of
long-term complications including
arthritis and psychosis.
59

RESEARCH REPORT
Population Health
Australian Paediatric
Surveillance Unit (APSU)
Acute flaccid paralysis
R D'Souza, M Kennett, J Antony,
H Longbottom, E Elliott
This study was undertaken in col-
laboration with the National Centre
for Disease Control in the
Commonwealth Department of
Health and Aged Care. Active sur-
veillance of Acute Flaccid Paralysis
(AFP) is currently being performed
in Australia to assist the World
Health Organisation in eradicating
poliomyelitis worldwide by the year
2000. The study aims to estimate
the incidence of AFP, describe their
clinical features and determine
whether any cases are due to para-
lytic 'wild' poliovirus. For the peri-
od 1995-8, the estimated national
incidence was 0.7/100,000 children
aged <15 years and there were no
identified cases of AFP due to
'wild' or vaccine poliovirus in
Australia. Guillain-Barre syn-
drome and transverse myelitis
accounted for the majority of AFP
cases.
Haemolytic uraemic syndrome
E Elliott, J Burke, P Henning, G
Hogg, J Knight, E O'Loughlin, D
Redmond, H Powell, R Robins-
Browne, V Bennett-Wood
This study was undertaken in col-
laboration with the Department of
Microbiology and Infectious
Diseases, Royal Children's
Hospital (Flemington, VIC).
Haemolytic uraemic syndrome
(HUS) results in acute renal failure
in children. Most commonly, HUS
is a complication of gastrointesti-
nal infection with Shiga-toxin pro-
ducing E. coli (STEC). This study
60
projects
1999
aims to estimate the incidence,
clinical features and outcomes of
HUS. The estimated national inci-
dence of HUS for the period 1994-8
was 1.3/100,000 in children aged
<5years. The most common STEC
isolated from children with HUS
was 0111:H-, though seven other
isolates were identified. No STEC
O157:H7 was isolated. This infor-
mation may have public health
implications as non-O157:H7
strains of STEC can lead to severe
disease and may cause outbreaks
in Australia.
HIV infection, AIDS and
perinatal exposure to HIV
A McDonald, M Cruickshank, J
Ziegler, J Kaldor, E Elliott
This study was undertaken in col-
laboration with the National Centre
for HIV Epidemiology & Clinical
Research (Darlinghurst, NSW).
Perinatal exposure to HIV is now
the only reported source of HIV
infection in Australian children.
This study aims to identify new
cases of perinatal exposure to HIV
and describe the pattern of perina-
tal exposure to HIV in Australia.
During the period 1982-98, the
estimated national incidence of
perinatal exposure to HIV was
1.4/100,000 live births. Thirty-two
percent of exposed infants devel-
oped HIV infection. For children
born to mothers with HIV between
1995-8, the perinatal HIV infection
rate was significantly lower in new-
borns delivered by caesarean sec-
tion, not breastfed and whose
mothers received antiretroviral
therapy. The main source of moth-
ers' exposure to HIV was hetero-
sexual contact.
Subacute sclerosing
panencephalitis
J Hanna, R Messer, P Procopis
This project was undertaken in col-
laboration with the Tropical Public
Health Unit (Cairns, QLD).
Subacute sclerosing panencephali-
tis (SSPE) is a rare, late complica-
tion of measles and is invariably
fatal. Because there is a consider-
able delay between measles infec-
tion and onset of SSPE, affected
children may not present for sever-
al years. The study aims to esti-
mate the incidence of SSPE and
determine the proportion of chil-
dren with SSPE who have a prior
history of measles or measles vac-
cination. The estimated national
incidence of SSPE was
0.03/100,000 children <16 years of
age for the period 1995-8. In chil-
dren with a definite history of
measles infection, the delay
between infection and onset of
symptoms of SSPE ranged from 14
to 16 years.
Vitamin K deficiency bleeding
(including Haemorrhagic
Disease of the Newborn)
K Chant, E Elliott, D Henderson-
Smart, P McDougall, P Loughnan,
L Taylor
This study was undertaken in col-
laboration with the NSW
Department of Health. Changes in
the recommendations for the
administration of vitamin K in the
newborn period were introduced in
1992 after an association between
intramuscular vitamin K and child-
hood malignancy was reported.
Further data did not substantiate
this association and revised recom-
mendations were released in March
1994. This study aims to estimate
the incidence of HDN, its morbidity
and mortality. The estimated
national incidence for the period

1993-8 was 0.9/100,000 live births.
Infants presented with skin bruis-
ing, gastrointestinal, umbilical or
intra-cranial bleeds and bleeding
post circumcision. It is recom-
mended that vitamin K be adminis-
tered to infants in accordance with
current NH&MRC guidelines.
Child Protection Unit
Uptake of referrals and
recommendations following a
medical and psycho-social
assessment at the Child
Protection Unit
R Lamb, S Foley, D Wheeler
The research project was conduct-
ed to gather baseline data and
assess factors associated with pro-
viding continuity of care for chil-
dren, suspected of being abused,
and their carers after assessment
at a tertiary hospital-based child
protection unit. One hundred cases
of children referred to the Royal
Alexandra Hospital for Children's
Child Protection Unit (CPU), from
1st July 1997 to 30th June 1998,
were randomly selected and
reviewed. Results indicate that
this was a highly mobile popula-
tion. 46% moved or changed
address in the 12 months following
referral. 80% of surveyed families
were able to take up referrals in
some form. Abuse type appeared to
affect uptake of referral. 92.5% of
sexual abuse cases reported some
uptake of referral while only 57%
of physical abuse and 50% of neg-
lect cases reported some follow up.
In all but the youngest age group,
the uptake score by age was over
60%. For children less than 12
months, uptake was 46%. 43% of
parents surveyed said they
received enough information to
contact the referral service. Where
the CPU negotiated follow up serv-
ices, uptake rate was significantly
projects
RESEARCH REPORT
higher (88%). 31% of children
were renotified to the Department
of Community Services in the 12
months following assessment. In
conclusion, the rate of uptake of
follow up services was inadequate
in this sample. The follow up care
and families was connected to the
type of abuse and the referral
processes involved. The findings of
this study have implications for
service delivery, and communica-
tion with families, agencies and
professionals.
Clinical Epidemiology Unit
The Childhood Asthma
Prevention Study
J Peat, C Mellis, G Marks, S
Leeder
This is a 5 year randomised con-
trolled trial investigating the effec-
tiveness of strategies for prevent-
ing the onset of asthma in children.
The interventions involve house
dust mite reduction and dietary
modification. Since asthma has its
origins in infancy, these interven-
tions are commenced at birth, and
will focus on the children who are
most at risk of developing the dis-
ease. To date more than 500 babies
have been recruited through
Liverpool, Westmead and
Blacktown Hospitals. They are ran-
domised to one of four different
groups and they are monitored for
the onset of allergic illness and
asthma over a period of four years.
1999
Emergency
Parents' utilisation of a tertiary
level paediatric emergency
department of primary health
care services
S Woolfenden, G Browne, M
McCaskill, B Fasher
A qualitative study using in depth
interviews of parents of children
with non-urgent illnesses attending
the waiting room of the New
Children’s Hospital Emergency
Department. This project aims to
explore their attitudes, perceptions
and beliefs which play a role in
their use of a tertiary hospital for
primary care services. This infor-
mation has the potential to aid fur-
ther planning of primary health
care services for families.
Immunology and
Infectious Diseases
Australasian Study Group for
Neonatal Infections. Ongoing
prospective study of
epidemiology of neonatal
infections in Australia and
New Zealand
D Isaacs
An ongoing prospective study of
the demographic features of infect-
ed babies and the organisms caus-
ing neonatal infections in 11 neona-
tal intensive care units throughout
Australia and New Zealand. This
study will collate and report com-
parative data analysed in the con-
text of different healthcare set-
tings.
61

RESEARCH REPORT
Immunology and
Infectious Diseases and
APSU
Neonatal herpes simplex virus
infection
CA Jones, D Isaacs, P McIntyre, T
Cunningham, C Minutillo
Neonatal infection due to herpes
simplex viruses (types 1 and 2) is
uncommon, but devastating.
Infection can manifest as disease
localised to the skin, eye or mouth,
as encephalitis, or as a disseminat-
ed infection. In the United States,
the mode of presentation in
neonates has changed over the last
two decades with an increase in
frequency of localised disease and
a decline in disseminated infection.
This has been indirectly linked to
the use of antiviral agents. In the
USA, mortality associated with
encephalitis or disseminated dis-
ease is high, although it has
declined with the use of antiviral
agents. The development of
improved, therapeutic and preven-
tative strategies is a high priority.
However, the incidence and mode
of presentation of this neonatal
infection in Australia is not known
and must be delineated before new
therapeutic strategies can be
implemented. Therefore, a 5 year,
propective study was commenced
in 1997 with the APSU to: 1) esti-
mate the incidence of neonatal HSV
infection in Australia, 2) determine
the proportion of HSV infected
babies with disseminated disease,
localised disease or encephalitis,
and 3) determine the mode of
acquisition of HSV infection.
62
projects
1999
Primary immunodeficiency
disorders in Australian children
A Kakakios, K Baumgart, W
Britton, M French, G Gold, P
Hogan, K Forsyth, E Benson, D
Isaacs, A Kemp, R Loh, D
Roberton, J Zeigler, M Codarini
This multicentre, cooperative study
was undertaken in collaboration
with APSU and Australian Society
of Clinical Immunology and Allergy.
This study will document the type
and incidence of primary immunod-
eficiency disorders in Australia,
enabling resource planning for
treatment of pirmary immunodefi-
ciencies.
National Centre for
Immunisation Research
and Surveillance of
Vaccine Preventable
Diseases (NCIRS) and The
New Children's Hospital's
Centre for Immunisation
Research
Australian Childhood
Immunisation Register (ACIR)
P McIntyre, T Heath, B Hull, H
Britt
In 1996, the Commonwealth
Department of Health and Family
Services established the Australian
Childhood Immunisation Register
(ACIR), whose objective is to
improve immunisation rates and
timeliness of vaccination by send-
ing reminder letters to parents.
The ACIR also operates the record-
ing system for the financial incen-
tives package implemented for
providers and parents during 1998.
The NCIRS is responsible for eval-
uating and interpreting the routine
data collected by the ACIR. This
work is performed in collaboration
with the Family Medicine Research
Unit, University of Sydney. The
impact of the financial incentives
on immunisation uptake and on
providers has been monitored.
Explanatory models for good and
poor immunisation coverage have
been developed and coverage rates
mapped. The Register data are
being used to evaluate: 1) the
impact of the introduction of acel-
lular pertussis vaccine; 2) the
enhanced measles control program;
and 3) the financial incentives
package.
Cost effectiveness of varicella
vaccine programs in Australia
P Scuffham, A Lowin, M Burgess
Varicella (chicken pox) vaccine is
now included in the routine child-
hood vaccination schedule in USA.
The vaccine is available in many
countries and is likely to become
available in Australia in the near
future. This study was carried out
in collaboration with the Centre for
Health Economics Research and
Evaluation, University of Sydney.
The study aimed to examine the
cost effectiveness of three different
potential varicella vaccination pro-
grams in Australia compared with
no vaccination. The cost of the vac-
cine was estimated at $53 per dose
(Australian equivalent of the cur-
rent cost in New Zealand). Only
direct health care costs were
included in the analysis. Mass
infant vaccination was more cost
effective than targeted adolescent
vaccination with the average cost
per case averted being $64. This
cost fell significantly if the vaccine
was lower priced. A vaccination
program would only be cost saving
if societal costs (estimated to be
80% of the costs of varicella to the
community) were included.
Studies in USA, New Zealand,
Germany and France have shown
similar results.

Evaluation of the Australian
Measles Control Campaign
F Turnbull, H Achat, M Burgess, B
Hull, S Lambert
In 1996 the World Health
Organization recommended that a
goal of worldwide eradication of
measles be established with a tar-
get date between 2005-2010. In
1997 the Commonwealth announced
that Australia would implement an
enhanced measles control program
and that would commence with the
Measles Control Campaign in the
third and fourth quarters of 1998.
The Campaign consisted of a
national media and education pro-
gram together with three interven-
tions, the first being a change in
the schedule for measles-mumps-
rubella vaccine by moving the sec-
ond dose from age 10-16 years to
age 4 years. This was accompa-
nied by a catch up program of vac-
cination in all 8000 primary
schools (1.7 million children)
throughout Australia and a sepa-
rate program aimed at preschool
aged children who had no record of
having had a dose of MMR vaccine.
The NCIRS was commissioned to
evaluate this program. The evalua-
tion involved telephone interviews
with almost 3000 parents through-
out Australia to estimate the vacci-
nation coverage and impact of the
Campaign. The report will be com-
pleted by June 1999.
Immunisation adverse events
T Heath, P McIntyre, M Burgess,
H Goodwin, F Turnbull, F Payne
Consultation with the States and
Territories has taken place about
the current definitions and possible
under–reporting of immunisation
adverse events. Methods for
improving retrieval and analysis of
these data are being considered in
view of current consumer concern
about their validity.
projects
RESEARCH REPORT
Laboratory surveillance and
serosurveys
L Gilbert, T Heath, M Burgess, P
McIntyre, R Escott
These projects are being performed
in collaboration with the Centre for
Infectious Diseases and Microbiology,
Institute of Clinical Pathology and
Medical Research, Westmead
Hospital. By using existing labora-
tory data on VPDs from the States
and Territories and coordinating a
collaborative cross-sectional
national survey on approximately
8000 sera collected opportunisti-
cally from children and adults, we
are assessing the need for new
immunisation programs and for
improving existing ones.
Serological evidence of immunity to
measles, rubella, hepatitis A, hepa-
titis B, diphtheria and tetanus are
being studied in the first two years.
These data are essential for pro-
gram monitoring and policy devel-
opment. A collection of a further
3000 sera is planned for early in
1999 to evaluate the impact of the
Measles Control Campaign.
Morbidity of pertussis in adults
P Thomas, P McIntyre, B Jalaludin
Ninety-three notified cases of per-
tussis in adults aged 20 years or
over were studied. 73 took part in
a telephone questionnaire. The
clinical diagnosis satisfied the
WHO criteria (greater than or equal
to 21 days paroxysmal cough) in
79%. The illness was generally
prolonged with the mean duration
of cough being 71 days. There was
an average of 3.7 GP consultations
for each case and 1 specialist or
Accident and Emergency visit for
every 5 cases. Every case had
antibiotics and other drugs. 71% of
employed persons lost work (mean
10 days). Adults were frequently
the first case in the household, sup-
porting the concept that adults play
1999
a role in the transmission of per-
tussis to susceptible children.
Program evaluation and policy
development
P McIntyre, T Heath, M Burgess, J
Amin, S Lister
The new vaccines which will
become available in the next five
years in Australia will include less
reactogenic but more expensive
vaccines. Some of these vaccines
(acellular pertussis and varicella)
may also have a place in adult
immunisation schedules. Economic
and epidemiological studies of vari-
cella, rotavirus, respiratory syncy-
tial virus, hepatitis A and pneumo-
coccal infection are currently
underway.
Review of immunisation
coverage in Australia
S Lister, P McIntyre, M Burgess,
T Heath
The 1995 Australian Bureau of
Statistics (ABS) Survey on the
immunisation status of children
under the age of six years showed
that only 52% had completed their
immunisation. This study suggest-
ed that uptake rates had plateaued
over the previous 5 years and led to
the development of the ‘Seven
Point Plan’ devised by the
Commonwealth Department of
Health and Family Services to
improve this situation. The NCIRS
reviewed the current levels of
immunisation coverage in Australia
using reports of regional studies to
compare with data from the
Australian Childhood Immunis-
ation Register (ACIR) and the ABS
and help identify gaps in services.
The review showed that coverage
was likely to be 10-15% higher
than currently estimated by the
ACIR and suggested that another
ABS survey should be carried out.
63

RESEARCH REPORT
Surveillance of vaccine
preventable diseases (VPDs)
P McIntyre, T Heath, M Burgess, J
Amin, S Lister, S Torvaldsen
National notifications of measles,
rubella and pertussis were very
high during 1993 and 1994 (more
than 3000 cases each) and have
remained very high for pertussis
since then. Where possible, the
cost to the health care system of
these outbreaks is being estimated
in order to emphasise the impor-
tance of increasing immunisation
rates. An analysis of the impact of
the recent pertussis outbreak is
being prepared and other work is
focusing on hepatitis A, respiratory
syncytial virus and pneumococcal
epidemiology.
The national measles
elimination surveillance
strategy
T Heath, M Burgess, P McIntyre,
M Catton, L Gilbert
A national program of revaccina-
tion of all primary school children
for measles took place in late 1998.
The NCIRS, in collaboration with
the Measles Elimination Advisory
Committee and the Communicable
Diseases Network of Australia and
New Zealand, drew up the policy
document for measles surveillance
to be implemented with the pro-
gram. Enhanced surveillance is
essential for successful elimination
of measles from Australia.
The vaccine adverse events
consultative clinic
M Burgess, D Isaacs, P McIntyre,
A Kakakios, C Kappagoda, H
Goodwin, F Payne, F Turnbull, S
Botham, ME Byrne
Many children are falsely perceived
to have contraindications to routine
childhood immunisations particu-
64
projects
1999
larly to vaccination with pertussis
vaccine. This clinic was estab-
lished to provide a consultative
service for referral by health care
professionals of children who
either have had an adverse event
following a prior immunisation or
who have other contraindications
to vaccination. Experience of other
clinics of this type has been that
the majority of these children can
be safely vaccinated. The clinic has
worked on a research basis; all
children are being followed up and
evaluated. A study of children who
have experienced collapse reac-
tions after pertussis vaccination
has been undertaken in collabora-
tion with similar clinics in Adelaide
and Melbourne. Almost 100 chil-
dren who have experienced these
reactions have been vaccinated
without complication.
NCIRS and APSU
Congenital rubella in Australia
M Burgess, J Forrest
Despite widespread vaccination
rubella has continued in the com-
munity particularly in men and
boys and outbreaks have occurred
each Spring since 1992. This study
aimed to document the incidence of
congenital infection and evaluate
the vaccination program through
the Australian Paediatric
Surveillance Unit. 21 infants with
defects were born in Australia in
the 6 years 1993–1998 inclusive;
four died. Most of the mothers had
not been vaccinated. There was
only one new case born in 1997 and
none in 1998 compared with 5 in
each of the previous 5 years. This
probably reflects the much lower
rubella activity in the community in
1995 and 1996. Recent immi-
grants, particularly from Asia, are
at highest risk.
Invasive Haemophilus
influenzae infection
P McIntyre, D Isaacs, E O'Brien,
G Hogg, L Gilbert, D Roberton, F
Payne
Invasive Haemophilus influenzae
(HI) type b (Hib) disease has
become increasingly rare in
Australia since Hib vaccines were
included in the immunisation
schedule in 1993 for children under
5 years of age. Case numbers of
Hib disease under 5 years of age
have declined from over 500 per
year to 33 reported cases in 1997.
As children with invasive HI usual-
ly come under the care of a paedia-
trician, the Australian Paediatric
Surveillance Unit (APSU) HI
reporting scheme was introduced
in 1998 as an additional source of
data to routine notifications to the
National Notifiable Diseases
Scheme (NNDS). 40 reports of
invasive H. influenzae disease were
received by the APSU in 1998, of
which 20 were definite cases.
There were six non type b cases, of
whom five had a predisposing con-
dition - nephrotic syndrome,
Mondini malformation, acute lym-
phatic leukaemia or being in the
neonatal age group. Of the 14 HI
type b cases, 7 were cases of
meningitis and 3 of epiglottitis.
Two cases of meningitis occurred
in Aboriginal children who were
unimmunised. 7 of the children
with type b disease were adequate-
ly immunised for age. The APSU
monitoring proved valuable and is
ongoing.

Neonatology and Grace
Neonatal Nursery
Australian and New Zealand
Neonatal Network (ANZNN)
R Halliday, P Barr, J Wojtulewicz,
S Laing, N Badawi
ANZNN is an audit of clinical care
set up under the National Perinatal
Statistics Unit, a collaborating unit
of the Australian Institute of
Health and Welfare. This is a
national minimum data set with all
level III units in both countries
contributing data, in an effort to
improve care of high risk newborns
and their families through collabo-
ration and research. As a network
of pooled data it provides a core
data set that identifies trends and
variation in neonatal morbidity and
mortality, enhances the ability to
carry out multicentre studies and
randomised controlled trials, moni-
tors the use of new technologies,
provides quality assurance, and
can be used to develop and evalu-
ate both clinical risk scores and
clinical indicators for perinatal care
through neonatal outcomes. Data
standards meet the requirements of
the International Neonatal
Network. ANZNN publishes a year-
ly report.
Cochrane Systematic Review:
Oral versus nasal endotracheal
intubation in neonates
K Spence, P Barr
The purpose of the review is to
compare the benefits and complica-
tions of the oral versus nasal route
of tracheal intubation for mechani-
cal ventilation in newborn infants.
All trials using random or quasi-
random allocation of patients to
either the nasal or oral route of
intubation were included. The
standard method of the Cochrane
Collaboration and the Neonatal
projects
RESEARCH REPORT
Review Group was used to assess
the methodological quality of the
included studies. Only two eligi-
ble randomised trials were found.
Data from these two trials failed to
show significant differences
between the oral and nasal route of
intubation for mechanically venti-
lated neonates. The rate of failure
to intubate using the nasal route
was higher in one study. One study
found post-extubation atelectasis
occurred more frequently in nasally
intubated infants who weighed less
than 1500 gms.
Neonatal Intensive Care Unit
Study (NICUS)
R Halliday, P Barr, J Wojtulewicz,
S Laing, N Badawi
NICUS is an audit of the care and
outcome of infants born in NSW
and ACT who were less than 32
weeks gestation, or less than 1500
grams, or who require major sur-
gery, or receive assistance with
ventilation; admitted to a neonatal
intensive care unit within the first
28 days of life. The study is moni-
tored by a clinical research com-
mittee, under the guidance of the
NSW Perinatal Services Network.
This information is also used to
plan future development of perina-
tal services in NSW. The NICUS
group produces a report on each
year’s statewide data which is pub-
lished as a NSW Public Health
Bulletin.
Underlying congenital diseases
in term infants with necrotising
enterocolitis - a regional study
in NSW and ACT
S Bolisetty, J Wojtulewicz, K Lui
The aetiology of necrotising entero-
colitis remains poorly understood
in infants of all gestations, particu-
larly at term. We hypothesised
that necrotising enterocolitis at
term is often associated with
1999
underlying disease and so under-
took a population-based study to
identify these underlying illnesses.
We retrospectively reviewed the
medical records of case infants
over a six and a half year period
and identified 29 term infants with
enterocolitis. Twenty infants
(69%) had an underlying disease
and we found that some of these
were endocrinopathies which is a
new finding. This is particularly
important in view of the fact that
prompt treatment of endocrino-
pathies may be life saving.
Paediatric Intensive Care
Unit
Parents and paediatricians:
representations of parents in
medical texts from 1850 to the
present day
J Gillis
This project looks at the relation-
ship between parents and physi-
cians, especially paediatricians
over time. Medical texts from 1850
to the present day are being
analysed to see how parents have
been represented over this period.
This research is part of a PhD the-
sis at the University of New South
Wales.
Psychological Medicine
The epidemiology and
classification of autistic
spectrum disorders in NSW
K Williams, K Nunn, C Mellis
Autism was first described in the
1940s as a disorder characterised
by abnormal communication,
behavioural and social interaction.
Since then it has become apparent
that many children have these
problems without fulfilling a strict
diagnosis of autism. This study will
establish an anonymous, NSW-wide
65

RESEARCH REPORT
database of children with problems
of the kind seen in autism. A ran-
dom sample of children notified to
the study will be clinically
reviewed. From this the frequency
of these disorders, the availability
of services, associations with other
conditions and their appropraite
classification will be determined.
The database will facilitate further
research into the potential causes
of autism and to evaluate treat-
ments.
Ray Williams Institute of
Paediatric Endocrinology,
Diabetes and Metabolism
The effect of birth size, genetic
and environmental factors on
blood pressure, abdominal fat
and bone density in
midchildhood (The Nepean
Study)
S Garnett, T Yu, B Moore, L Baur,
R Fay, J Briody, C Cowell, G
Ambler, R Howman-Giles, J Knight
The Nepean Study has followed up
approximately 450 subjects, 260 of
whom have had a bone density
study, at age 7-8 from a birth cohort
of approximately 2300 born
between August 1989 and April
1990 at Nepean Hospital.
Recruitment finished in August
1998.This study will analyse envi-
ronmental and genetic factors that
may be regulating blood pressure,
abdominal fat, bone mass and
growth in mid childhood.
The epidemiology of childhood
diabetes in NSW and the ACT
N Howard, M Craig, M Lloyd, A
Chan
The existence of the APEG insulin
dependent diabetes mellitus regis-
ter at the Hospital since January
1990 has allowed the study of
annual incidence and prevalence of
66
projects
1999
the disease in NSW and the ACT.
Seven years of data have now been
analysed and a rise in incidence of
approximately 3% per year has
been found. The greatest rise has
been in toddlers, approximately 5%
per year. There has also been
analysis of ethnic and regional dif-
ferences in IDDM incidence
throughout NSW.
Speech Pathology and
Otolaryngology
Normal voice parameters of
Australian children
D Fitzsimons, C Birman
The study aims to collect a wide
range of normative voice data of
the Australian paediatric popula-
tion. This data will be analysed in
the New Children's Hospital Voice
Clinic using the Computerised
Speech Laboratory.
Surgical Research
Clinical and molecular genetic
aspects of Hirschsprung's
disease
D Croaker, P Manglick, D Cass
Our laboratory has 12 years experi-
ence in establishing a clinical and
genetic database on Hirschsprung's
disease. Initially this was restrict-
ed to clinical data from Westmead
Hospital, RAHC, Monash and
Queensland cases. In addition,
genetic material was sent overseas
as a collaborative study. We have
expanded the above to an extensive
NSW clinical database and have
developed in-house genetic muta-
tional analysis. A locus on chro-
mosome 21 has been excluded.
New genes have been described by
other laboratories and we have col-
laborated to try to understand how
the genes interact to produce
Hirschsprung's Disease. Clinical
analysis has identified previously
undescribed associations and given
new clues as to where to look for
gene mutations related to
Hirschsprung's disease.
NSW all ages trauma death
review study
D Cass, L Lam, F Ross
We were approached in 1996 by M.
Hill (Department of Health) to
expand the paediatric (0-14) trau-
ma death review study to include
all ages. As in the initial studies
we rely on police notification to the
coroner and we enter the core data.
This has resulted in an up-to-date
data set that allows for trends to be
seen early. There are still problems
with full notification from some
areas. In the future we hope to fur-
ther develop this database. Also,
the database has provided an excel-
lent starting point for other stud-
ies.
NSW suicide and illicit drugs
related deaths surveillance
project
L Lam
This is a intersectorial collabora-
tive study based on the above death
review study but also includes the
suicide branch of the Health
Department and the NCH. The aim
of the project is to set up a more
detailed surveillance system for
collating information on suicides.
The project is funded by the NSW
Department of Health and housed
at the NCH.
Paediatric death review
D Cass, F Ross
This study has now been in
progress for 11 years (started in
1989) and collates epidemiological
data with hospital and post-mortem
reports. We rely on notification

from the coroner (which in turn
relies on police notification). We
then look at the full coroners
report, detail the events and the
injuries. Where possible we include
hospital data. Over 1000 paedi-
atric (0-14) deaths have been col-
lected and the information used for
injury prevention and improve-
ments in treatment.
Surgical Research and
APSU
Hirschsprung's disease
D Cass, D Croaker, L Lam, F Ross,
E Shi, R Walker, R Yardley, E
Elliott
Modern diagnostic and treatment
methods have improved survival for
patients with Hirschsprung's dis-
ease, however, its epidemiology in
Australia is unknown. This study
aims to estimate its incidence,
describe its clinical features and
associated anomalies and evaluate
the genetic contributions to the dis-
ease.
The Institute of Pathology
Iron deficiency in Sydney
children
P Beal, B Webster, A Lammi, M
Karr, M Mira, G Alperstein
This study, performed in conjunc-
tion with the Division of General
Practice, Central Sydney, is now
concluding. Children of Arabic
background have been investigated
for iron deficiency and the abnor-
mal haemoglobins detected
amongst this group have now been
identified.
projects
RESEARCH REPORT
Plasma Vitamin A, Retinol
Binding Protein, Lipids and
Vitamin E in children
JW Earl
Analysis of vitamins, proteins and
lipids in plasma samples from
Papua New Guinea children is pro-
gressing. There are distinct differ-
ences between the various PNG
villages in the levels of some of
these nutritional markers and con-
siderable differences when com-
pared with plasma levels of chil-
dren living in Sydney.
Population pharmacoknetics of
amphotericin
C Nath, A McLachlan, P Shaw, J
Earl
The population pharmacokinetic
model previously developed is
being used to determine optimal
doses of amphotericin for children
of different ages and to minimise
adverse effects and improve out-
comes.
The incidence of melanosis
appendix in children Western Sydney Genetics
N Graf, S Arbuckle Program (Academic Unit
We retrospectively reviewed 300
In Medical Genetics)
cases of appendices to look at the
incidence of melanosis appendix in
children. It far exceeds that record-
ed in other age groups. We may
now look at its relationship to
apoptosis.
University Department of
Paediatrics and Child
Health
Is paediatric inpatient medicine
evidence based?
E Elliott, A Gist, V Moyer
This study is conducted in collabo-
ration with the Lyndon B Johnson
1999
Hospital, Houston Texas. It exam-
ines and compares the extent to
which primary interventions are
evidence-based in inpatient paedi-
atric practice in Sydney and
Houston.
Obesity and families: a
biochemical and
epidemiological study
KS Steinbeck, LA Baur, K Brock
Obesity is an increasingly prevalent
problem in Australia. Obesity is
difficult to treat and long term
results are poor. It makes sense to
discover a way to work out which
people are "at risk of obesity" and
then to work at preventing obesity
in these individuals. Prevention is
particularly applicable to children.
Research shows that obesity runs
in families and intervention for obe-
sity would need to happen in a fam-
ily context. In this study, baseline
fasting leptin and HDL-cholesterol
levels appear to predict which chil-
dren had the greatest weight gain
over a one year period.
Outcomes and knowledge in
consanguineous marriages
1998
V Langsdorf, D Sillence
This study has ascertained a cohort
of couples from among our Eastern
Meditteranean who have previously
had a child with a rare recessive
disorder. We are seeking to com-
pare the experiences and knowl-
edge of consanguineous and non-
consanguineous couples.
67

RESEARCH REPORT
Western Sydney Genetics
Program (Biochemical
Genetics And Newborn
Screening)
Use of tandem mass
spectrometry in newborn
screening
V Wiley, K Carpenter, B Wilcken
Investigation of the utility of tan-
dem mass spectrometry in the rou-
tine newborn screening laboratory.
We are defining the specificity and
sensitivity of the technology for
detecting a wide range of disorders
of amino acid, organic acid and
fatty acid metabolism. We are also
investigating the influence of ges-
tational age, birth weight, and
other neonatal factors on the blood
levels of various analytes, and the
usefulness of using ratios of ana-
lytes in the diagnosis of specific
disorders.
Western Sydney Genetics
Program (Clinical
Genetics) and APSU
Arthrogryposis multiplex
congenita
L Taylor, G Morgan, M Wilson
This study aims to determine the
incidence of arthrogryposis multi-
plex congenita (AMC), to describe
the pattern of malformations
among these children and to identi-
fy possible causative genetic or
parental factors.
68
projects
1999
Western Sydney Genetics
Program (Cytogenetics)
and APSU
Investigation to establish
incidence of Prader-Willi
syndrome in Australia
A Smith, E Haan, P Montgomery,
G Warne, J McMillan, K Williams,
E Elliott
While the Prader-Willi syndrome
(PWS) appears to be distinctive,
virtually all the features are non-
specific and diagnosis is often
delayed. Incidence figures cover a
wide range (from 1/5,000 to
1/100,000) depending on the popu-
lations studied. A new study of the
Australian Paediatric Surveillance
Unit aims to determine the inci-
dence in Australia. This is a 3 year
project, which commenced in
January 1998. The questionnaire
has been designed so that the
uptake of genetic testing in
Australia can also be assessed and
provide data on whether significant
differences are present between
patients with deletion and those
with uniparental disomy. The first
years figures and data will appear
in the APSU Annual report.
 staff & students
RESEARCH REPORT 1999

Name - Elle. Age 9.

“When I grow up, I want to be a painter like my dad.”

69

RESEARCH REPORT
Adolph Basser Cardiac Institute
Director
Dr Gary Sholler, MBBS FRACP, Clinical Researcher
Research Staff
Dr Meredith Sheil, MBBS FRACP, Senior Research
Fellow
Anaesthesia
Head
Dr John Keneally, MBBS FANZCA
Centre for Kidney Research
Director
Dr John Knight, MBBS MA MBA
FRACP, Clinical Researcher
Research Staff
Dr Takashi Ando, PhD MD,
Clinical Research Fellow
Dr Jonathan Craig, MBBChir DipCH MMed(Clin Epi)
PhD FRACP, Clinical Researcher
Dr Iraj Ghadiminejad, PhD, Senior Research Fellow
Dr Elisabeth Hodson, MBBS MRCP FRACP, Clinical
Researcher
Dr Anna Lee, PhD MPH BPharm, Senior Research
Officer
Ms Eve Reed, BSc DipNutrDiet MDAA, Clinical
Researcher
A/Prof Paul Roy, MBBS BSc(Med) FRACP, Clinical
Researcher
Ms Premala Sureshkumar, BSc, Research Assistant
Ms Dushyanthi Vimalachandra, BA MPH, Senior
Research Officer
Dr Giles Walters, BA MB ChB MRCP, Clinical
Research Fellow
Ms Debbie Watson, BSc(Hons), Research Assistant
Ms Danielle Wheeler, BSc, Research Assistant
Dr Gabrielle Williams, BSc(Hons) PhD, Research
Officer
Ms Narelle Willis, BSc MSc, Research Assistant
Dr Huiling Wu, MD, Research Assistant
Dr Geoff Zhang, MD, Senior Hospital Scientist
70
staff
1999
Child Protection Unit
Deputy Director
Ms Robyn Lamb, BSocSt, Clinical Researcher
Research Staff
Ms Sue Foley, BSocSt MA MSW, Senior Research
Officer
Children’s Hospital Education Research
Institute (CHERI)
Director
Prof Jeff Bailey, TC BA MLitt MEdAdmin MPhil EdD
FACE, Supervisor of Projects
Research Staff
Ms Belinda Barton, BA(Hons), Research Officer
Dr Lee Ling Kok, BSc DipEd MSc PhD, Senior
Research Fellow
Children's Chest Research Centre
Co-ordinator
Dr Karen McKay, PhD, Senior Research Fellow
Research Staff
Ms Sara Cooper, RN, Research Assistant
Dr Peter Cooper, MB ChB BscMedSc MRCP FRACP,
Clinical Researcher
Ms Anne-Maree Davis, BSc(Nursing) RN, Clinical
Researcher
Dr Rolando De La Eva, MD DPPS, Clinical
Researcher
A/Prof Henry Kilham, MBBS FRACP, Clinical
Researcher
Ms Karen Magoon, MSc(Nursing), Research
Assistant
Dr Chris Seton, MBBS FRACP, Clinical Researcher
Dr Kunling Shen, MD, Clinical Researcher
Ms Lucia Smith, BSc, Research Assistant
A/Prof Peter Van Asperen, MD BS FRACP, Clinical
Researcher
Dr Karen Waters, MBBS PhD FRACP, Clinical
Researcher
 staff
RESEARCH REPORT 1999
Children's Hospital Institute of Sports Gene Therapy Research Unit
Medicine (CHISM) (A partnership between The New Children’s
Head Hospital and Children’s Medical Research
Prof Cameron Blimkie, PhD FACSM, Clinical Inistitute)
Researcher
Joint Heads
Research Staff Dr Ian Alexander, BMedSci MBBS PhD Clinical
Dr Nathalie Farpour-Lambert, MD, Clinical Research Geneticist(HGSA) FRACP, Senior Research Fellow
Fellow (New Children’s Hospital)
Dr Jason Smythe, BSc(Hons) PhD, Senior Research
Clinical Epidemiology Unit Fellow (CMRI)
Head
Research Staff
Prof Craig Mellis, MBBS MD MPH FRACP, Clinical
Researcher Dr Robyn Biti, BSc(Hons) PhD, Research Officer
Dr Jane Fleming, BSc(Hons) PhD, Senior Research
Research Staff Officer
Ms Samantha Forbes, RN CM, Research Assistant Dr Apru Khatri, BSc MSc PhD, Research Officer
Ms Seema Mihrshahi, BSc(Hons), Research Assistant Ms Margot Latham, BSc, Research Administrator
Dr Jennifer Peat, BSc(Hons) PhD, Senior Research Ms Jacqueline Lees, BRSc(Hons), Research Assistant
Officer Mr Grant Logan, BAppSc, Research Assistant
Ms Nicola Vukasin, RN CM, Research Assistant Dr Anna Skulimowski, BSc(Hons) PhD,
Senior Research Officer
Ms Christine Smyth, MSc, Research Assistant
Dermatology Ms Anne Turnbull, BMedSci(Hons), Research
Head Assistant
Dr Maureen Rogers, MB BS FACD, Clinical Ms Katherine Turner, BSc(Hons), Research Assistant
Researcher Mr Maolin Zheng, MSc, Research Assistant

Research Staff Immunology and Infectious Diseases

Dr Gayle Fischer, BArch MB BS FACD, Clinical
Researcher
Dr Peter Hogan, BScMed MBBS FACD, Clinical
Researcher
Emergency
Director
Dr Gary Browne, MBBS FRACP FACEM, Clinical
Researcher
Research Staff
Dr Amanda Jane Cocks, Clinical Researcher
Dr Kathryn Currow, Clinical Researcher
Dr Bruce Fasher, MBBS DRCOG DCH FRCP(L)
FRACP, Clinical Researcher
Dr Deidre Holley, Clinical Researcher
Dr Hiroyuki Kato, Clinical Researcher
Dr Mary McCaskill, MBBS BSc(Med) DipPaeds
FACEM, Clinical Researcher
Dr Sue Woolfenden, Clinical Researcher
Head
Dr Alyson Kakakios, MB BS(Hons) FRACP, Clinical
Researcher
Research Staff
Dr Miriam Codarini, MB BS, Clinical Research Fellow
Ms Lou Gacis, BSc, Hospital Scientist
Mr Mark Hanlon, BSc MASM, Principal Hospital
Scientist
Prof David Isaacs, MBChir MD FRCPCH FRACP,
Clinical Researcher
Mr Jerome Jayasekera, BSc, Research Assistant
Dr Preeti Joshi, MB BS(Hons) DCH, Clinical
Researcher
A/Prof Peter McIntyre, MBBS(Hons) FRACP FAF-
PHM, Clinical Researcher
Ms Reta Nambiar, DipMedLabPath, Hospital Scientist
Ms Arlene Shaw, RN, Research Officer

71

RESEARCH REPORT
Intestinal Disease Research
Head
Dr Edward O'Loughlin, MD FRACP, Clinical
Researcher
Research Staff
Mr Craig Koina, BSc, Research Assistant
Dr Zhe Li, PhD, Senior Research Officer
Ms Vanessa Williams, BSc(Hons), Research Assistant
James Fairfax Institute of Paediatric
Nutrition
Director
Prof Kevin Gaskin, MD FRACP FRCPc, Clinical
Researcher
Research Staff
Dr Jane Allen, MSc DipNutrDiet PhD, Senior
Research Officer
Ms Adeli Georga, RN BA, Research Officer
Ms Margie Gruca, MSc GradDipClinBiochem,
Principal Hospital Scientist
Mr Ian Humphries, BSc, Hospital Scientist
Dr Hossein Nouri-Sorkhabi, BSChem PhD, Hospital
Scientist
Management and Support Analysis Unit
Chair of Division of Information Services
Dr Ralph Hanson, BScMed MBBCH MPH MRACMA
FRCAP FACEM
Acting Manager
Ms Christine Fan, BSc(Maths, Computing &
Statistics)
National Centre for Immunisation
Research and Surveillance of Vaccine
Preventable Diseases (NCIRS) and the
New Children's Hospital's Centre for
Immunisation Research
Director
Prof Margaret Burgess, MD FRACP, Clinical
Researcher
Deputy Director
Clinical A/Prof Peter McIntyre, MBBS(Hons) FRACP
FAFPHM, Clinical Researcher
Research Staff
Dr Helen Achat, ScD MSc BEd BA, Clinical Research
Fellow
72
staff
1999
Ms Janaki Amin, BSc, Research Officer
Ms Sue Botham, BAppSc(Nursing) MPH, Research
Nurse
Ms Marysia Carr, Administrative Assistant
Ms Barbara Clifton-Smith, RN, Research Nurse
Ms Jacinda Dawson, Administrative Assistant
Ms Annemarie Egan, RN, Research Nurse
Dr Jill Forrest, MB BS MD, Clinical Research Fellow
Dr Timothy Heath, MB BS MAEpi FAFPHM, Clinical
Research Fellow
Dr Chamari Kappagoda, MB BS, Clinical Research
Fellow
Ms Susan Lister, BSc MPH DipSocSt DipSocAdmin,
Research Officer
Dr Fiona Payne, MB BS, Clinical Research Fellow
Ms Geraldine Smith, RN, Research Nurse
Dr Fiona Turnbull, MB BS, Clinical Research Fellow
Neonatology and Grace Neonatal
Nursery
Head
Dr Robert Halliday, MBBS BSc(Med) FRACP, Clinical
Researcher
Research Staff
Dr Nadia Badawi, MBBCh DCH MSc PhD MRCPI
FRACP, Clinical Researcher
Dr Peter Barr, OAM MBBS FRACP, Clinical
Researcher
Ms Di Campbell, GradDipChildHealthNursing, Clinical
Researcher
Ms Helen Hardy, BA DipOT, Clinical Researcher
Ms Sharon Laing, BA(Hons), Research Officer
Ms Kim Psaila, BA(N) PICCert GradDipNeonatal,
Clinical Researcher
Ms Julianne Schiefelbein, RN CM MAppSc MA(Ed)
GradDipNNP, Clinical Researcher
Ms Judith Smith, RN MidwiferyCert PICCert,
Clinical Researcher
Ms Kaye Spence, RN BEd(N) MN MCN(NSW), Clinical
Researcher
Dr Julian Wojtulewicz, MBBS FRACP, Clinical
Researcher
 staff
RESEARCH REPORT 1999
Neurogenetics Research Dr Geoff McCowage, MBBS FRACP, Clinical
Unit Researcher
Head Ms Belinda Meares, RN, Clinical Researcher
Dr Kathryn North, BSc(Med) MBBS(Hons) MD Dr Wendy Nightingale, MBBS MPH, Clinical
FRACP AAN HGSA, Clinical Researcher Researcher
Research Staff Ms Lyra Pearson, MA MAPS, Clinical Researcher
Ms Sarah Kim, BSc(Hons), Research Assistant Ms Rhonda Rytmeister, BA(Hons), Clinical
Ms Michelle Mills, BSc(Hons), Research Assistant Researcher
Ms Christina Schnell, BSc(Hons) MSc, Research Dr Peter Shaw, MA MBBS MRCP FRACP, Clinical
Officer Researcher
Dr Nan Yang, PhD, Senior Research Officer Dr Helen Sommerville, MBBS MPaed, Clinical
Researcher
Ms Nicole Stuart, BAppSc HIM, Clinical Researcher
Nursing Academic Unit
Head
Prof Sue Nagy, BA(Hons) RN PhD FCN(NSW)
Oncology Research Unit
Head
FRCNA, Senior Research Officer
Prof Peter Gunning, BSc(Hons) PhD, Senior
Research Staff Research Fellow
Dr Donna Gillies, BAppSc DipEd PhD, Research
Officer Associate Heads
Ms Chelsea Macfarlane, RN BScN, Research Dr Jennifer Byrne, BSc(Hons) PhD, Research Fellow
Assistant Dr Ron Weinberger, BSc(Hons) PhD, Research Fellow
Ms Fiona Maxton, RN RSCN MN, Research Officer
Research Staff
Ms Nicole Bryce, BSc(Hons), Research Assistant
Occupational Therapy Ms Janett Clarkson, BAppSc MScSt, Research
Head
Administrator
Ms Alison Jones, DipOT Ms Lucy Coupland, RN BSc(Hons), Research
Assistant
Research Staff
Dr Cecile Dufour, BSc(Hons) PhD, Research Officer
Ms Margaret Wallen, BAppSc(OT) MA, Clinical Ms Vicki Ferguson, BSc(Hons), Research Assistant
Researcher Mr Jeff Hook, BAppSc MSc, Research Assistant
Ms Belinda Kramer, BSc(Hons) MSc, Research
Oncology Assistant
Head Ms Vanessa Nikolarakis, BSc(Hons), Research
Dr Michael Stevens, MBBS FRACP, Clinical Assistant
Researcher Mr Justin Percival, BSc(Hons), Research Assistant
Dr Han Qin, BSc(Hons) PhD, Research Officer
Research Staff Dr Galina Schevzov, BSc(Hons) PhD, Research
Dr Anjali Alatkar, MBBS, Clinical Researcher Officer
Dr Frank Alvaro, MBBS FRACP, Clinical Researcher Ms Sarah Wilson, BSc(Hons), Research Assistant
Ms Vicki Antonenas, BSc MSc(Med), Research
Officer
Dr Draga Barbaric, MBBS FRACP, Clinical
Researcher
Dr Mary Bergin, MBBS FRACP, Clinical Researcher
Dr Luce DallaPozza, MBBS FRACP, Clinical
Researcher
A/Prof Stewart Kellie, MBBS FRACP, Clinical
Researcher
Dr Emma McCahon, MBBS FRACP, Clinical
Researcher

73
 staff
RESEARCH REPORT 1999
Orthopaedic Surgery Psychology
Head Head
Dr Ian Barrett, MBBS FRACS, Clinical Researcher Ms Ingeborg Stiefel, RN(Germ) SozP GradDipPsych
MClinPsych, Clinical Researcher
Research Staff
Dr Michael Bellemore, MBBS FRACS, Clinical Research Staff
Researcher Ms Julie Hendy, BBSc(Hons) MSc, Senior Research
Dr Mark Cornell, BM FRCS(Ortho), Clinical Research Officer
Fellow Ms Susan Johnson, BSc(Hons) MClinPsych, Clinical
Dr David Little, MBBS FRACS, Clinical Researcher Researcher
Ms Joan Tornquist, BSc MT(ASCP), Research Ms Pam Joy, BA MA MSc MAPsS, Clinical
Assistant Researcher
Ms Corinne Roberts, BA(Hons) MA, Research Officer
Paediatric Intensive Care Unit
Head Ray Williams Institute of Paediatric
Dr Jonathan Gillis, MB BS FRACP, Clinical Endocrinology, Diabetes and Metabolism
Researcher Director
Prof Martin Silink, MD, Clinical Researcher
Research Staff
Dr Robin Choong, MB BS FRACP, Clinical Researcher Research Staff
Dr Owen Miller, BMed FRACP, Clinical Researcher Dr Geoff Ambler, MD FRACP, Clinical Researcher
Ms Anne Morrison, RN PICCert BN, Clinical Dr Barbara Blades, BSc(Hons) PhD, Principal
Researcher Hospital Scientist
Dr Anthony O'Connell, MB BS FANZCA FFICANZCA, Ms Darna Bradford, BSc, Hospital Scientist
Clinical Researcher Mr Albert Chan, MSc(ApplStats), Research Officer
Dr Nicholas Pigott, MB BS MRCPI, Clinical Dr Amabel Clavano, MB BS, Clinical Researcher
Researcher Dr Chris Cowell, MB BS FRACP FRCPC, Clinical
Dr David Schell, MB BS FRACP, Clinical Researcher Researcher
Dr Barry Wilkins, MA MD MRCP (UK) FRACP DCH, Dr Maria Craig, MB BS, Clinical Research Fellow
Clinical Researcher Ms Mandy Crocker, RN, Research Assistant
Ms Janine Cusumano, RN, Research Assistant
Pharmacy Ms Lucy Cutler, BSc(Psych)(Hons), Research
Director Assistant
Ms Gwen Higgins, BPharm FSHP Dr Kim Donaghue, MB BS FRACP, Clinical
Researcher
Physiotherapy Dr Janice Fairchild, MB BS FRACP, Clinical Research
Acting Head Fellow
Ms Pam Hennessy, BAppSc MAPA, Clinical Ms Sarah Garnett, BSc MNutrDiet, Research Officer
Researcher Dr Neville Howard, MB BS FRACP FRCPC, Clinical
Researcher
Psychological Medicine Dr George Joannou, PhD, Principal Hospital Scientist
Head Dr Yan-Lin Kao, MB MM, Clinical Research Fellow
Dr David Dossetor, MA MBB Chir DCH FRCP(UK) Ms Rosetta Laina, MSc BSc, Research Officer
MRC Psych (UK) MD Cantab, Clinical Researcher Ms Jenny Lee, BAppSc, Hospital Scientist
Ms Bin Moore, RN, Research Assistant
Research Staff Dr Vida Petrukas, MB BS, Research Assistant
Ms Belinda Pratt, BSc(Hons) MPsychol(Clinical) Mr Chang Tao, DipPrevMed MScMed, Hospital
MAPS, Clinical Researcher Scientist
Dr Phil Renner, BA MPsych DIPED PhD, Clinical Ms Mei Wang, MApplStats, Research Assistant
Researcher
Dr Katrina Williams, MBBS MSc FRACP FAFPHM,
Clinical Researcher

74
 staff
RESEARCH REPORT 1999
Rehabilitation T.Y. Nelson Department of Neurology
Head and Neurosurgery
Dr Stephen O'Flaherty, MBCh FRACP FAFRM, Head
Clinical Researcher Dr Jayne Antony, MD PED FRACP

Research Staff Research Staff

Ms Kath Bakker, BA MSc, Clinical Researcher Dr Andrew Bleasel, B(Med)Sc MBBS PhD FRACP,
Ms Ruth Brunsdon, BA(Hons) MSc MAPS, Clinical Clinical Researcher
Researcher Dr Laurel Bornholt, BA(Hons) PhD, Research Officer
Ms Helen Dawson, BSW, Research Officer Ms Heidi Lyneham, BA(Hons), Research Assistant
Mr Tim Hannan, BA(Hons) MPsych MSc(Clin Ms Laraine McAnaly, RN CNS, Clinical Researcher
Neuropsych) MCogSc, Clinical Researcher Prof Robert Ouvrier, MBBS BSc(Med) FRACP,
Dr Adam Scheinberg, MB BS DCh, Clinical Clinical Researcher
Researcher Dr Daniel Schultze, MD, Clinical Research Fellow
Ms Martine Simons, BSW(Hons) MEd, Clinical
Researcher
Dr Mary-Clare Waugh, MB BS MRCPCH FRACP, Clinical
The Institute of Pathology (Departments
Researcher of Biochemistry, Blood Bank,
Haematology, Histopathology,
Social Work Microbiology, Virology)
Head Co-ordinator
Ms Catherine Doggett, BSW, Clinical Researcher Dr John Earl, BSc PhD MRACI, Principal Hospital
Scientist
Research Staff
Ms Jennifer McManus, BSW, Research Assistant Research Staff
Dr Susan Arbuckle, MBBS FRCPA, Clinical
Speech Pathology Researcher
Head Ms Patricia Beal, MSc, Senior Hospital Scientist
Ms Jeanette Cowell, MA(Linguistics) LCST, Clinical Dr John Coakley, MD BS FRACP FRCPA MAACB,
Researcher Clinical Researcher
Dr Claire Cooke-Yarborough, MBBS FRCPA, Clinical
Research Staff Researcher
Mr David Fitzsimons, BAppSc(SpPath), Clinical Dr Alison Kesson, MBBS PhD FRACP FRCPA,
Researcher Clinical Researcher
Dr Alex Khan, MBBS FRCPA, Clinical Researcher
Dr Ahti Lammi, MBBS FRACP FRCPA, Clinical
Surgical Research Researcher
Head Mr William Leach, MSc, Hospital Scientist
Prof Danny Cass, MBBS B(Med)Sc PhD FRCS Ms Christine Manning, Dip AIMLS, Hospital Scientist
FRACS, Clinical Researcher Dr Michael Watson, MBBS FRACP FRCPA DTM&H,
Clinical Researcher
Research Staff Dr Boyd Webster, MB ChB DCP FRCPA, Clinical
Mr Lawrence Lam, BSc(Hons) MAppPsy MPH, Researcher
Scientific Research Fellow Ms Fay Wood, BSc (Hons), Senior Hospital Scientist
Ms Manglick Patricia, MSc GradDipClinBiochem,
Hospital Scientist
Mr Frank Ross, BAAppSc MPH, Clinical Researcher
Dr Gouchen Yang, PhD, Senior Research Officer

75
 staff
RESEARCH REPORT 1999
University Department of Paediatrics Urology
and Child Health Head
Dr Grahame Smith, MBBS(Hons) FRACS, Clinical
Please refer to APSU, Clinical Epidemiology, Intestinal Researcher
Disease Research and Neurogenetics Research Unit for
other staff. Research Staff
Dr Ralph Cohen, BMedSci MBBS MS FRACS, Clinical
Director Researcher
Prof Craig Mellis, MBBS MD MPH FRACP, Senior Ms Irene Tsang, RN, Clinical Researcher
Principal Research Fellow
Western Sydney Genetics Program
Research Staff Director
A/Prof Louise Baur, BSc(Med) MBBS PhD FRACP, A/Prof John Christodoulou, MB BS(Hons) PhD
Senior Research Fellow FRACP CGHGSA, Clinical Researcher
Ms Janice O'Connor, BSc(Hons) DipEd MNutrDiet,
Scientific Research Fellow
Ms Jacqueline Payne, BSc(Hons), Research Assistant
Academic Unit In Medical Genetics
Head
Prof Kim Oates, MD MHP FRACMA FRCP FRACP
FAFPHM DCH, Senior Research Fellow Prof David Sillence, MD MB BS FRACP FRCPA, Clinical
Ms Heather Swanston, BSc(Hons), Research Officer Researcher

Research Staff
Australian Paediatric Surveillance Unit Ms Julie Briody, MBioMedEng BSc, Hospital Scientist
(APSU) Dr Mary-Louise Freckmann, MBBS FRACP, Clinical
Research Fellow
The APSU facilitates collaborative research through Ms Jill Hall, RN, Research Nurse
active monthly national surveillance of selected dis-
eases in childhood. This is achieved through participa-
tion of all Australian specialists in child health and the Biochemical Genetics And Newborn
support of the Financial Markets Foundation for Screening
Children, Australian College of Paediatrics, University Director
of Sydney, New Children’s Hospital and Dr Bridget Wilcken, MB ChB FRACP CGHGSA,
Commonwealth Department of Health and Family
Clinical Researcher
Services. An annual report detailing findings derived
from the unit is available on request.
Research Staff
Director Dr Kevin Carpenter, PhD, Hospital Scientist
A/Prof Elizabeth Elliott, MD FRACP FRCP FRCPCH, Dr Judith Hammond, PhD, Principal Hospital
Senior Principal Research Fellow Scientist
Ms Keow Giak Sim, BSc, Hospital Scientist
Deputy Director Ms Ruth Urwin, MAppSc, Hospital Scientist
Dr Katrina Williams, MBBS MSc FRACP FAFPHM, Dr Veronica Wiley, PhD, Principal Hospital Scientist
Senior Research Fellow
Clinical Genetics
Research Staff Head
Ms Jennifer Fowler, Research Assistant Dr Meredith Wilson, MBBS FRACP HGSACG, Clinical
Ms Diane Redmond, BSc, Research Assistant Researcher
Ms Gabrielle Williams, BA, Research Assistant
Research Staff
Ms Fiona Richards, BSc, Clinical
Researcher
Dr Rani Sachdev, MBBS FRACP, Clinical Research
Fellow

76
 staff
RESEARCH REPORT 1999
Cytogenetics
Head
Dr Lesley Bousfield, PhD HGSACC, Principal
Hospital Scientist

Associate Heads
Dr Art Daniel, PhD HGSACC DipABMG CFACMG,
Principal Hospital Scientist
Dr Arabella Smith, MBBS HGSACC DipRCP FRCPA,
Clinical Researcher

Research Staff
Ms Nicole Chia, BSc, Hospital Scientist
Mr Paul Malafiej, BSc, Hospital Scientist
Ms Lisa Robson, BSc, Hospital Scientist
Dr Zhan He Wu, MD PhD, Hospital Scientist

Marfan Research Group

Director
Dr Lesley Adés, MBBS FRACP MD CG HGSA,
Clinical Researcher

Research Staff
Ms Katherine Holman, BAppSc, Research Assistant

Metabolic Diseases Research Laboratory

Head
A/Prof John Christodoulou, MB BS(Hons) PhD
FRACP CGHGSA, Clinical Researcher

Research Staff
Dr Leon McQuade, BA MSc PhD, Research Officer
Ms Melanie Murrell, BSc, Research Assistant

Molecular Genetics
Head
Dr Bruce Bennetts, BSc(Hons)
PhD, Senior Research Fellow

77
 students
RESEARCH REPORT 1999
Student Current Degree for which University/Institution Department
Qualification they are enrolled where enrolled

Ban Altoumah BSc(Hons) MClinChem University of Technology, Sydney Endocrinology

Janaki Amin BSc MPH University of Sydney NCIRS
John Arnold MBBS PhD University of Sydney Endocrinology
Nerilee Baker RN BN Masters by Research University of Technology, Sydney Nursing Academic Unit
Belinda Barton BA(Hons) MScMed University of Sydney CHERI
Fiona Black BA GradDipAppl MEd University of Sydney Neurology and Neurosurgery
Psych GradDipEd
Nadiene Brotherton RN BN Honours University of Western Sydney, Nepean Nursing Academic Unit
Julianne Brown BSc MPH MAppEpi Australian National University NCIRS
Marc Buhler BSc MSc PhD University of Sydney Molecular Genetics
Mei Yuk Chan BSc Honours Macquarie University Metabolic Diseases Research
Laboratory
Paul Chee MBBS MM University of Sydney Molecular Genetics
Kit Chee MBBS(Hons) FRACP MD University of Sydney Paediatrics and Child Health
Sara Cooper RN MSc University of Sydney Children's Chest Research
Centre
Maria Craig MBBS PhD University of Sydney Endocrinology
David Croaker MBBS FRACS PhD University of Sydney Surgical Research
Julie Dean MBBS(Hons) FRACP PhD University of Sydney Gene Therapy Research Unit
Jun Diao MSc PhD University of Sydney Gene Therapy Research Unit
Leonora Dias BSc PhD University of NSW Paediatric Intensive Care Unit
Natalie Dominish RN BN Honours University of Western Sydney, Nepean Nursing Academic Unit
Kim Donaghue MBBS FRACP PhD University of Sydney Endocrinology
Annaliese Dowling BSc Honours University of Wollongong Paediatrics and Child Health
Margaret Dowrick CertTeach DipTeach EdD University of Western Sydney, Nepean CHERI
BEd MSpED
Anthony Duffin BSc(Hons) PhD University of Western Sydney, Nepean Endocrinology
Craig Duncan BSc PhD University of Sydney CHISM
Shoma Dutt MBBS FRACP PhD University of Sydney James Fairfax Institute of
Paediatric Nutrition
Carolyn Ellaway MBBS FRACP PhD University of Sydney Metabolic Diseases Research
Laboratory
Jonathan Gillis MBBS FRACP PhD University of NSW Paediatric Intensive Care Unit
Linette Gomes MBBS DipRACOG PhD University of Sydney CHERI
Terry Grissell BSc(Hons) PhD University of Newcastle Pathology
Janet Grumley RN BN Honours University of Western Sydney, Nepean Nursing Academic Unit
Mark Hanlon BSc MASM MScMed University of Sydney Immunology and Infectious
Diseases
Ian Humphries BSc PhD University of Sydney James Fairfax Institute of
Paediatric Nutrition
Shelley Hyman BSc(Hons) PhD University of Sydney Neurogenetics Research Unit
Cheryl Jones MBBS PhD University of Sydney NCIRS
Kristi Jones MBBS PhD University of Sydney Neurogenetics Research Unit
Preeti Joshi MBBS(Hons) DCH PhD University of Sydney Immunology and Infectious
Diseases
Tina Kendrick RN BN MN Honours University of Western Sydney, Nepean Nursing Academic Unit
Natalya Knezevic MNutrDiet University of Sydney Paediatrics and Child Health
Grant Logan BAppSci MSc University of Sydney Gene Therapy Research Unit
Bruce Lord BSW(Hons) MSW PhD Macquarie University Social Work
Chelsea Macfarlane RN BScN PhD University of Western Sydney, Nepean Nursing Academic Unit
Frouz Mahjoubi MSc PhD Macquarie University Cytogenetics
Damian Marsh BSc Honours Australian Catholic University CHISM
John Massie MBBS FRACP PhD University of Sydney James Fairfax Institute of
Paediatric Nutrition
David Mather RN BN Honours University of Western Sydney, Nepean Nursing Academic Unit
Fiona Mather BA MA MPsychol University of Sydney Rehabilitation
Miriam Meischke BSc(Nutr) MPH University of Sydney Endocrinology
Seema Mihrshahi BSc(Hons) MPH University of Sydney Clinical Epidemiology Unit

78
 students
RESEARCH REPORT 1999
Student Current Degree for which University/Institution Department
Qualification they are enrolled where enrolled

Jim Minchenko BSc(Hons) MSM University of Sydney Metabolic Diseases Research

Laboratory
Elsie Mobbs BSc DipEd MStud PhD University of Sydney Endocrinology
Psychol MA
Christa Nath BSc(Hons) PhD University of Sydney Pathology
Craig Nourse BSc(Hons) PhD University of Sydney Oncology Research Unit
Jill Orford MBBS FRACS PhD University of Sydney Surgical Research
Elizabeth O'Riordan RN RSCN MN PhD University of Western Sydney, Nepean Nursing Academic Unit
Fiona Payne MBBS MPH University of Sydney NCIRS
Justin Percival BSc(Hons) PhD University of Sydney Oncology Research Unit
Lalitha Rajapakse MD PhD University of New South Wales CHISM
Nadine Reynolds BSc MPsychol University of Sydney Rehabilitation
Lesley Russell BA(Hons) MSc Macquarie University Neurology and Neurosurgery
Hiran Selvadurai MBBS PhD University of Sydney Children's Chest Research
Centre
Karen Setterfield BSc MSc Macquarie University Metabolic Diseases Research
Laboratory
Meredith Sheil MBBS FRACP PhD University of Sydney Adolph Basser Cardiac
Institute
Shiona Shiu DipTeach EdD University of Western Sydney, Nepean CHERI
GradDipSpEd MA
Anish Singh MSc MBChB PhD University of Sydney Oncology Research Unit
MD FRACP
Christine Smyth MSc PhD Macquarie University Gene Therapy Research Unit
Cheryl Soo BSc(Hons) PhD University of Western Sydney, Nepean CHERI
Heather Swanston BSc(Hons) PhD University of Sydney Paediatrics and Child Health
Chang Tao DipPrevMed PhD University of Sydney Endocrinology
MScMed
Fiona Thomas BSc MSc University of Sydney CHISM
Paul Thomas MBBS MPH University of Sydney NCIRS
Gail Tomsic RN BN MN Masters by Research University of Western Sydney, Nepean Nursing Academic Unit
Siranda Torvaldsen BAppSc MAE RN PhD University of Sydney NCIRS
Toby Trahair BSc(Med)(Hons) PhD University of Sydney Gene Therapy Research Unit
MBBS(Hons)
Fiona Turnbull MBBS MPH University of Sydney NCIRS
Ruth Urwin MClinChem PhD University of Sydney Clinical Genetics
Yvette Vajter RN BN Honours University of Western Sydney, Nepean Nursing Academic Unit
Peter Wiebe BSc MA PhD Australian Catholic University CHISM
Fiona Wilkinson BA MPsychol University of Sydney Rehabilitation
Andrew Williams BSc(Hons) MAACB PhD University of Sydney Metabolic Diseases Research
Laboratory
Melanie Wong MBBS FRACP PhD University of Sydney NCIRS/Immunology and
Infectious Diseases
Helen Woodhead MBBS FRACP PhD University of Sydney CHISM
Huiling Wu MD PhD University of Sydney Centre for Kidney Research
Lian Yong RN BN Masters by Research University of Western Sydney, Nepean Nursing Academic Unit
An Ling Zhang MBBS MM PhD University of Sydney Surgical Research

79
 funding
RESEARCH REPORT 1999

Name - Jeda. Age 8.

“When I grow up I want to be a nurse. I will take
people’s temperature and look after them in hospital”

Name - Jessica. Age 8.

“I want to be a doctor when I’m older. I will operate
on people to make them better”
80
 funding
RESEARCH REPORT 1999
Department Total Funding Source Peer Reviewed Peer Reviewed Industry Other Public
Grant External Internal Partner- Sector
Income Research Research ships Research
Grants Grants Funding

Australian Paediatric $75,500 - Financial Markets $67,500

Surveillance Unit Foundation for Children
- National Centre for Disease Control $8,000
(Commonwealth Department of
Health and Aged Care)

Centre for Kidney $235,531 - NH&MRC $189,331

Research - CHF Annual Grants Scheme $46,200

Child Protection Unit $2,870 - CHF Small Grants Scheme $2,870

CHERI $47,250 - CHF Annual Grants Scheme $47,250

Children's Chest $127,565 - Australian Lung Foundation $40,000

Research Centre (Career Development Award)
- Australian Lung Foundation $3,000
(Ludwig Engel Grant-in-aid)
- Financial Markets Foundation $30,500
for Children
- NH&MRC $45,565
- CHF Small Grants Scheme $8,500

CHISM $29,660 - Australian Cystic Fibrosis Research $2,330

Trust
- Australian Research Council Small $15,000
Grants Scheme
- Clive and Vera Ramaciotti $10,000
Foundations
- CHF Small Grants Scheme $2,330

Clinical Epidemiology $216,444 - NH&MRC (PHRDC) $216,444

Unit

Gene Therapy Research $162,857 - NH&MRC $102,857

Unit - Theresa Byrnes Foundation Inc $60,000

Immunology and $50,000 - Asthma Foundation of NSW $50,000

Infectious Diseases

Intestinal Disease $50,000 - NH&MRC $50,000

Research

81
 funding
RESEARCH REPORT 1999
Department Total Funding source Peer Reviewed Peer Reviewed Industry Other Public
Grant External Internal Partner- Sector
Income Research Research ships Research
Grants Grants Funding

NCIRS $1,010,000 - Pharmaceutical Industry $310,000

- Commonwealth Department of $600,000
Health
- NSW Health Research and $100,000
Development Infrastructure
Grants Program

Neonatology and $125,904 - NH&MRC $124,000

Grace Neonatal Nursery - Mead Johnson $1,904

Neurogenetics $147,496 - Brain Foundation $10,000

Research Unit - Clive and Vera Ramaciotti $15,000
Foundations
- Muscular Dystrophy Association $14,200
- University of Sydney Research $8,000
Grants Scheme
- CHF Annual Grants Scheme $82,696
- St George Foundation $17,600

Oncology $11,200 - SmithKline Beecham $11,200

Oncology Research Unit $396,867 - Clive and Vera Ramaciotti $20,000

Foundations
- Kathleen Cuningham Foundation $40,000
for Breast Cancer Research
- NH&MRC $287,120
- CHF Annual Grants Scheme $49,747

Orthopaedic Surgery $32,816 - Australian Orthopaedic Association $10,000

Research Foundation Grant
- CHF Annual Grants Schemes $15,216
- CHF Small Grants Schemes $7,600

Paediatric Intensive $6,000 - CHF Small Grants Scheme $6,000

Care Unit

Psychological Medicine $40,886 - CHF Annual Grants Scheme $36,886

- NSW State Government $4,000

82
 funding
RESEARCH REPORT 1999
Department Total Funding Source Peer Reviewed Peer Reviewed Industry Other Public
Grant External Internal Partner- Sector
Income Research Research ships Research
Grants Grants Funding

Psychology $34,213 - Motor Accidents Authority $34,213

Ray Williams Institute $325,000 - Diabetes Australia Research Trust $42,000

of Paediatric - CHF Annual Grants Scheme $83,000
Endocrinology, Diabetes - Pharmaceutical Industry Grant $60,000
and Metabolism - Pharmacia and Upjohn $50,000
- Wyeth $90,000

Rehabilitation $9,240 - Motor Accidents Authority $9,240

Surgical Research $160,000 - CHF Small Grants Scheme $16,000

- Centre for Mental Health $144,000
(Department of Health)

Neurology and $76,542 - NH&MRC $54,542

Neurosurgery - Australian Brain Foundation $12,000
- Sydney Children's Hospital $10,000
Foundation

Institute of $60,000 - NH&MRC $55,000

Pathology - World Health Organisation $5,000

Paediatrics and $109,670 - Australian Rotary Health $22,000

Child Health Research Fund
- NH&MRC $87,670

Urology $26,600 - CHF Annual Grants Scheme $26,600

Western Sydney $231,148 - Apex Foundation $25,000

Genetics Program - NH&MRC $49,148
- Multiple Sclerosis $47,000
- University of Sydney Faculty of $11,000
Medicine Vallack Bequest
- University of Sydney Faculty of $25,000
Medicine Bridging Grants Scheme
- CHF Small Grants Scheme $22,000
- ConnecTeD $12,000
- Genzyme $5,000
- Novartis Pharmaceuticals $20,000
- OI Society of Australia and Bankers' $15,000
Trust

Total $3,801,259 $1,791,207 $452,895 $560,104 $997,053

83
 funding
RESEARCH REPORT 1999
1998 Funding (as a percentage of total)

Comparison of Funding 1995-1998

Comparison of Funding 1995-1998

Funding source Total 1995 Total 1996 Total 1997 Total 1998
External Peer Reviewed Research Grants
(non-NM&MRC) $419,949 $691,025 $471,925 $529,530

NH&MRC $455,841 $674,789 $1,025,860 $1,261,677

Industry Partnerships $703,630 $523,000 $473,035 $560,104

Internal Peer Reviewed Research Grants $478,504 $370,472 $487,488 $452,895

Other Public Sector Research Funding $295,882 $457,783 $1,250,479 $997,053

Donations* $1,138,306

Total $2,353,806 $2,717,069 $3,708,787 $4,939,565

*reported for the first time in 1998

84
 publications
RESEARCH REPORT 1999

Name - Vonniel. Age 5.

“When I’m older, I want to work in the city so I can
carry a briefcase and read my paper on the bus”
Name - Christine. Age 11.
“I like playing games on my computer, so when I grow
up I want to make computer games”
85

RESEARCH REPORT
Original Articles in Peer
Reviewed Journals
Allen, J.R., Humphries, I.R.J., Mc Cauley, J.C.,
Waters, D.L., Allen, B.J., Baur, L.A., Roberts,
D.C.K., & Gaskin, K.J. (1998). Assessment of
body composition of children with cystic fibro-
sis. Applied Radiation and Isotopes, 49, 591-
592.
Amin, J., Hueston, L., Dwyer, D.E., & Capon, A.
(1998). Ross River virus infection in the north-
west outskirts of the Sydney basin.
Communicable Diseases Intelligence, 22, 101-
102.
Andronicus, M., Oates, R.K., Peat, J., Spalding,
S., & Martin, H. (1998). Non-accidental burns
in children. Burns, 24, 552-558.
Arnold, J.D., Bonacruz, G., Leslie, G.I.,
Veldhuis, J.D., Milmlow, D., & Silink, M.
(1998). Antenatal glucocorticoids modulate
the amplitude of pulsatile cortisol secretion in
premature neonates. Paediatric Research, 44,
876-881.
Badawi, N., Watson, L., Petterson, B., Blair, E.,
Slee, J., Haan, E., & Stanley, F.J. (1998). What
constitutes cerebral palsy? Developmental
Medicine and Child Neurology, 40, 520-527.
Badawi, N., Kurinczuk, J.J., Keogh, J.M.,
Alessandri, L.M., Burton, P.R., O'Sullivan, F.,
Pemberton, P.J., & Stanley, F.J. (1998).
Intrapartum antecedents of newborn
encephalopathy: the Western Australian case
control study. British Medical Journal, 317,
1554-1558.
Badawi, N., Kurinczuk, J.J., Keogh, J.M.,
Alessandri, L.M., O'Sullivan, F., Burton, P.R.,
Pemberton, P.J., & Stanley, F.J. (1998).
Antepartum risk factors for newborn
encephalopathy: the Western Australian case-
control study. British Medical Journal, 317,
1549-1553.
Bai, J., Peat, J.K., Berry, G., Marks, G.B., &
Woolcock, A.J. (1998). Questionnaire items
that predict asthma and other respiratory con-
ditions in adults. Chest, 114, 1343-1348.
Bailey, J.G., & du Plessis, D.A. (1998). An
investigation of school principals' attitudes
toward inclusion. Australasian Journal of
Special Education, 22, 12-26.
Bailey, J.G., & Ellerman-Bull, K. (1998).
Conflict resolution preferences and casual
attributions of young male offenders. Youth
Studies, 17, 42-50.
Baldwin, I., Beckman, U., Shaw, L., &
Morrison, A. (1998). Australian Incident
Monitoring Study in intensive care: local unit
review meetings and report management.
Anaesthesia & Intensive Care, 26, 294-297.
Barr, P., & Courtman, S.P. (1998).
Cardiopulmonary resuscitation in the newborn
intensive care unit. Journal of Paediatrics and
Child Health, 34, 503-507.
86
publications
1999
Barrett, I., Bellemore, M., & Won, Y.-M.
(1998). Cosmetic results of supracondylar
osteotomy for correction of cubitus varus.
Journal of Pediatric Orthopaedics, 18, 445-447.
Baur, L.A., O'Connor, J., & Storlien, L.H.
(1998). Fat, fat subtypes and insulin action.
Proceedings of the Nutrition Society of Australia,
22, 151-157.
Baur, L.A., O'Connor, J., Pan, D.A., Kriketos,
A.D., & Storlien, L.H. (1998). The fatty acid
composition of skeletal muscle membrane
phospholipid: its relationship with type of feed-
ing and plasma glucose levels in young chil-
dren. Metabolism, 47, 106-112.
Baur, L.A., O'Connor, J., Pan, D.A., & Storlien,
L.H. (1999). Relationships between maternal
risk of insulin resistance and the child's mus-
cle membrane fatty acid composition. Diabetes,
48, 112-116.
Beckmann, U., Baldwin, I., Durie, M.,
Morrison, A., & Shaw, L. (1998). Problems
associated with nursing staff shortage: an
analysis of the first 3600 incident reports sub-
mitted to the Australian Incident Monitoring
Study (AIMS-ICU). Anaesthesia & Intensive
Care, 26, 396-400.
Bernard, E.J., Nicholls, W.D., Howman-Giles,
R.B., Kellie, S.J., & Uren, R.F. (1998).
Patterns of abnormality on bone scans in acute
childhood leukemia. Journal of Nuclear
Medicine, 39, 1983-1986.
Birman, C., & Beckenham, E. (1998).
Acquired trachco-esophageal fistula in the
pediatric population. International Journal of
Pediatric Otorhinolaryngology, 44, 109-113.
Botham, S.J., Isaacs, D., & Burgess, M.A.
(1998). Immunisation of preterm infants.
Communicable Disease Intelligence, 22, 218-220.
Buchholz, T., Jackson, J., Robson, L., & Smith,
A. (1998). Evaluation of methylation analysis
for diagnostic testing in 258 referrals suspect-
ed of Prader-Willi or Angelman syndromes.
Human Genetics, 103, 535-539.
Buiting, K., Dittrich, B., Gross, S., Lich, C.,
Farber, C., Buchholz, T., Smith, A., Reis, A.,
Burger, J., Nothen, M.M., Barth-Witte, U.,
Janssen, B., Abeliovich, Lerer, I., van den
Ouweland, A.M., Halley, D.J., Schrander-
Stumpel, C., Smeets, H., Meinecke, P.,
Malcolm, S., Gardner, A., Lalande, M., Nicholls,
R.D., Friend, K., & Horsthemke, B. (1998).
Sporadic imprinting defects in Prader-Willi syn-
drome and Angelman syndrome: implications
for imprint-switch models, genetic counselling,
and prenatal diagnosis. American Journal of
Human Genetics, 63, 170-180.
Burgess, M.A., McIntyre, P.B., & Heath, T.C.
(1998). Pertussis re-emerging: who is respon-
sible? Australian and New Zealand Journal of
Public Health, 22, 9-10.
Burgess, M.A. (1998). What's new in childhood
immunisation in 1998? Modern Medicine, 41, 26-34.
Burgess, M.A., Heath, T.C., & McIntyre, P.B.
(1998). The Measles Control Campaign and
immunisation adverse events. Communicable
Diseases Intelligence, 22, 136-138.
Burgess, M.A., McIntyre, P.B., & Heath, T.C.
(1998). Rethinking contraindications to vacci-
nation. Medical Journal of Australia, 168, 476-
477.
Burgner, D., Eagles, G., Burgess, M., Procopis,
P., Rogers, M., Muir, D., Pritchard, R.,
Hocking, A., & Priest, M. (1998).
Disseminated invasive infection due to
Metarrhizium anisopliae in an immunocompro-
mised child. Journal of Clinical Microbiology,
36, 1146-1150.
Byrne, J.A., Nourse, C.R., Basset, P., &
Gunning, P. (1998). Identification of homo- and
heteromeric interactions between members of
the breast carcinoma-associated D52 protein
family using the yeast two-hybrid system.
Oncogene, 16, 873-881.
Byrne, J.A., Mattei, M.G., Basset, P., &
Gunning, P. (1998). Identification and in situ
hybridization mapping of a mouse Tpd52l1
(D53) orthologue to chromosome 10A4-B2.
Cytogenetics & Cell Genetics, 81, 199-201.
Chan, D., Weng, Y.M., Graham, H.K., Sillence,
D.O., & Bateman, J.F. (1998). A nonsense
mutation in the carboxyl-terminal domain of
type X collagen causes haploinsufficiency in
schmid metaphyseal chondrodysplasia. Journal
of Clinical Investigation, 101, 1490-1499.
Chang, T., Yu, T., Garnett, S., Briody, J., Knight,
J., Woodhead, H., & Cowell, C. (1998). Vitamin
D receptor alleles predict growth and bone den-
sity in girls. Archives of Diseases in Children,
79, 488-495.
Chant, K.G., Sullivan, E.A., Burgess, M.A.,
Ferson, M.J., Forrest, J.M., Baird, L.M.,
Tudehope, D.I., & Tilse, M. (1998). Varicella-
zoster virus infection in Australia. Australian
and New Zealand Journal of Public Health, 22,
413-418.
Christodoulou, J., Danks, D.M., Sarkar, B.,
Baerlocher, K.E., Casey, R., Horn, N., Tumer, Z.,
& Clarke, J.T. (1998). Early treatment of
Menkes disease with parenteral copper-histi-
dine: long-term follow-up of four treated
patients. American Journal of Medical Genetics,
76, 154-164.
Cocks, A.J., O'Connell, A., & Martin, H. (1998).
Crystalloids, colloids and kids: a review of pae-
diatric burns in intensive care. Burns, 24, 717-
724.
Collins, C.E., O'Loughlin, E.V., & Henry, R.L.
(1998). Discrepancies between males and
females with cystic fibrosis in dietary intake
and pancreatic enzyme use. Journal of Pediatric
Gastroenterology and Nutrition, 258-262.

Collins, J.J., Stevens, M.M., & Cousens, P. (1998).
Home care for the dying child. A parent's percep-
tion. Australian Family Physician, 27, 610-614.
Collod-Beroud, G., Beroud, C., Adés, L.C.,
Black, C., Boxer, M., Brock, D.J.H., Holman,
K.J., de Paepe, A., Francke, U., Grau, U.,
Hayward, C., Klein, H.-G., Liu, W., Nuytinck, L.,
Peltonen, L., Perez, A.B.A., Rantamaki, T.,
Junien, C., & Boileau, C. (1998). Marfan data-
base (third edition): New mutations and new
routines for the software. Nucleic Acids
Research, 26, 229-233.
Craig, J.C., Irwig, L.M., Knight, J.F.,
Sureshkumar, P., & Roy, L.P. (1998).
Symptomatic urinary tract infection in pre-
school Australian children. Journal of
Paediatrics & Child Health, 34, 154-159.
Craig, J.C., Irwig, L.M., Howman-Giles, R.B.,
Uren, R.F., Bernard, E.J., Knight, J.F.,
Sureshkumar, P., & Roy, L.P. (1998).
Variability in the interpretation of dimercapto-
succinic acid scintigraphy after urinary tract
infection in children. Journal of Nuclear
Medicine, 39, 1428-1432.
Cree, A., Coolican, M., & Tonkin, M. (1998).
Prevention of common peroneal nerve palsy
after surgery for valgus deformity about the
knee. The Knee, 5, 261-265.
Croaker, G.D., Shi, E., Simpson, E., Cartmill, T.,
& Cass, D. (1998). Congenital central
hypoventilation syndrome and Hirschsprung's
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316-322.
Crock, P.A., McKenzie, J.D., Nicoll, A.M.,
Howard, N.J., Cutfield, W., Shield, L.K., &
Byrne, G. (1998). Benign intracranial hyper-
tension and recombinant growth hormone ther-
apy in Australia and New Zealand. Acta
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Daley A.J., Isaacs, D., Dwyer, D.E., & Gilbert,
G.L. (1998). A cluster of cases of neonatal
Coxsackievirus B meningitis and myocarditis.
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Daniel, A., Ng, A., Kuah, K.B., Reiha, S., &
Malafiej, P. (1998). A study of early amniocen-
tesis for prenatal cytogenetic diagnosis.
Prenatal Diagnosis, 18, 21-28.
Davies, B., Deveau, E., deVeber, B., Howell, D.,
Martinson, I., Papadatou, D., Pask, E., &
Stevens, M. (1998). Experiences of mothers in
five countries whose child died of cancer.
Cancer Nursing, 21, 301-311.
Davies, D., & Rogers, M. (1998).
Haemangiomas: when to treat. Modern
Medicine of Australia, 41, 98-101.
Dias, L.S., Schell, D.N., & Burcher, E. (1998).
Effect of post-mortem delay on density of
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Donaghue, K.C., Robinson, J., McCredie, R.,
Fung, A., Silink, M., & Celermajer, D.S. (1998).
Macroangiopathy--does it play a role in young
people? Hormone Research, 50 Suppl 1, 38-40.
Dossetor, D., Stiefel, I., & Gomes, L. (1998). A
case of predominantly nocturnal siling treated
with amitriptyline. European Journal of Child &
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Dudding, T.E., Rogers, M., Roddick, L.G.,
Relic, J., & Edwards, M.J. (1998). Nevoid
hypertrichosis with multiple patches of hair
that underwent almost total resolution.
American Journal of Medical Genetics, 79, 195-
196.
Dufour, C., Weinberger, R.P., Schevzov, G.,
Jeffrey, P.L., & Gunning, P. (1998). Splicing of
two internal and four carboxyl-terminal alter-
native exons in nonmuscle tropomyosin 5 pre-
mRNA is independently regulated during devel-
opment. Journal of Biological Chemistry, 273,
18547-18555.
Dufour, C., Weinberger, R.P., & Gunning, P.
(1998). Tropomyosin isoform diversity and
neuronal morphogenesis. Immunology and Cell
Biology, 76, 424-429.
Ellaway, C., North, K., Arbuckle, S., &
Christodoulou, J. (1998). Complex I deficiency
in association with structural abnormalities of
the diaphragm and brain. Journal of Inherited
Metabolic Diseases, 21, 72-73.
Ellaway, C., Buchholz, T., Smith, A., Leonard,
H., & Christodoulou, J. (1998). Rett syndrome:
significant clinical overlap with Angelman syn-
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of Child Neurology , 13, 448-451.
Ellaway, C., Christodoulou, J., Kamath, R.,
Carpenter, K., & Wilcken, B. (1998). The asso-
ciation of protein-losing enteropathy with
cobalamin C defect. Journal of Inherited
Metabolic Disease, 21, 17-22.
Fear, W.R., Kesson, A.M., Lynch, G.W., Naif, H.,
& Cunningham, A.L. (1998). HIV-1 differential
tropism and chemokine receptor expression in
neonatal monocytes, monocyte derived
macrophages, and placental macrophages.
Journal of Virology, 72, 1334-1344.
Fitzgerald, D., Van Asperen, P.P., O'Leary, P.,
Feddema, P., Leslie, G., Arnold, J., & Sullivan,
C. (1998). Sleep, respiratory rate and growth
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Pediatric Pulmonology, 26, 241-249.
Fitzgerald, D., Van Asperen, P., Mellis, C.,
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Fluticasone propionate 750 micrograms/day
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micrograms/day: comparison of efficacy and
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Fitzgerald, D., Van Asperen, P.P., Leslie, G.,
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1999
Fitzgerald, D., Willis, D., Usher, R.,
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Dexamethasone for Pulmonary Interstitial
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Fitzpatric, D.R., Keeling, J.W., Evans, M.J.,
Kan, A.E., Bell, J.E., Porteous, M.E.M., Mills,
K., Winter, R.E., & Clayton, P.T. (1998).
Clinical phenotype of desmosterolosis.
American Journal of Medical Genetics, 75, 145-
152.
Flaherty, L., Jarvis, A., Harris, M., Tyrrell, V., &
Smith, A. (1998). A case of chronic
myelomonocytic leukemia with isochromosome
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Flaherty, M.P., & O'Flaherty, S.J. (1998).
Neurological deterioration following head
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Forrest, J.M., Burgess, M.A., Heath, T.C., &
McIntyre, P.B. (1998). Measles control in
Australia. Report of the Measles Control in
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Fung, D.C., Yu, B., Cheong, K.F., Smith, A., &
Trent, R.J. (1998). UBE3A "mutations" in two
unrelated and phenotypically different
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Gazarian, M., Williams, K., Elliott, E., Chant,
K., Longbottom, H., Mellis, C., Nolan, T., &
Oates, RK. (1998). Evaluation of a national
surveillance unit. Archives of Disease in
Childhood, 80, 21-27.
Gibson, M.A., Ellis, S.L., Adés, L.C., Haan,
E.A., & Cleary, E.G. (1998). Preferential pre-
mRNA utilisation of an upstream cryptic 5'
splice site created by a single base deletion
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European Journal of Biochemistry, 256, 221-
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Glasson, E.J., Bower, C., Thomson, M.R., Fyfe,
S., Leonard, S., Rousham, E., Christodoulou, J.,
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Hannan, A.J., Gunning, P., Jeffrey, P.L., &
Weinberger, R.P. (1998). Structural compart-
ments within neurons: developmentally regu-
lated organization of microfilament isoform
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Hayes, M., Evans, W., Ouvrier, R., Morris,
J.G.L., & Somerville, E. (1998). X-linked dys-
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13, 303-308.
Heath, T.C., Burgess, M.A., & Forrest, J.M.
(1998). Moving the second dose of measles-
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Heath, T.C., Burgess, M.A., & O'Brien, E.D.
(1998). Administration of measles-mumps-
rubella vaccination with other childhood sched-
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22, 159
Hendry, G.D., & Baur, L.A. (1998). Monitoring
evaluation of a Paediatrics and Child Health
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Hornung, T.S., Bernard, E.J., Jaeggi, E.T.,
Howman-Giles, R.B., Celermajer, D.S., &
Hawker, R.E. (1998). Myocardial perfusion
defects and associated systemic ventricular
dysfunction in congenitally corrected transpo-
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Howell, P.L., Turner, M.A., Christodoulou, J.,
Walker, D.C., Craig, H.J., Simard, LR, Ploder,
L., & McInnes, R.R. (1998). Intragenic com-
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of Inherited Metabolic Disease, 21 Suppl 1, 72-
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Humphries, I.R.J., Allen, J.R., Waters, D.L.,
Howman-Giles, R., & Gaskin, K.J. (1998).
Volumetric bone mineral density in children
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Hunter, A.G., Bankier, A., Rogers, J.G.,
Sillence, D., & Scott, C.I., Jr. (1998). Medical
complications of achondroplasia: a multicentre
patient review. Journal of Medical Genetics, 35,
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Isaacs, M,, Zeng, F., Kesson, A.M.,
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UL97 genotyping of cytomegalovirus isolates: a
rapid method for antiviral susceptibility testing
of cytomegalovirus to ganciclovir. Microbiology
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Isaacs, D., Daley A.J., Dalton, D., Hardiman,
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Pediatric Infectious Diseases Journal, 17, 533-
533.
Isaacs, D. (1998). Pathogenesis of infectious
diseases. Kota Bahru Journal of Medical
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Isaacs, D. (1998). Prevention of early-onset
group B streptococcal infection : screen, treat
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and Neonatal Edition, 79, F81-F82
Jalaludin, B., Xuan, W., Mahmic, A., Peat, J.,
Tovey, E., & Leeder, S. (1998). Association
between Der p 1 concentration and peak expi-
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Jamieson, R.V., Tan, S.S., & Tam, P.P. (1998).
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Jamieson, R.V., Zhou, S.X., Wheatley, S.C.,
Koopman, P., & Tam, P.P. (1998). Sertoli cell dif-
ferentiation and Y-chromosome activity: a devel-
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Developmental Biology, 199, 235-244.
Jepson, R.G., Mihalijevic, L., & Craig, J.C.
(1998). Cranberries for the treatment of uri-
nary tract infection (Cochrane Review). In The
Cochrane Library, Issue 4. Oxford: Update soft-
ware.
Jones, K., Lee, S., & North, K. (1998).
Abnormalities of dystrophin, the sarcoglycans
and merosin in the muscular dystrophies.
Journal of Medical Genetics, 35, 379-386.
Jones, K., & North, K. (1998). Developmental
delay, expressive aphasia, hypotonia and dys-
morphism in two brothers: An X-linked mental
retardation syndrome. Clinical Genetics, 54,
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Joshi, P., Kakakios, A., Jayasekera, J., &
Isaacs, D. (1998). A comparison of IL-2 levels
in nasopharyngeal and endotracheal aspirates
of babies with respiratory syncytial viral bron-
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Immunology, 102, 618-620.
Joshi, P., & Barr, P. (1998). The use of lumbar
puncture and laboratory tests for sepsis by
Australian neonatologists. Journal of
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Kabir, A., Hanson, R., Mellis, C.M., & Van
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improved by computer-facilitated data entry?
Journal of Quality in Clinical Practice, 18, 187-
193.
Kao, Y.L., Donaghue, K., Chan, A., Knight, J., &
Silink, M. (1998). A variant of paraoxonase
(PON1) gene is associated with diabetic
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Endocrinology & Metabolism, 83, 2589-2592.
Kappagoda, C., Schell, D.N., Hanson, R.M., &
Hutchins, P. (1998). Clonidine overdose in
childhood: implications of increased prescrib-
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Kellie, S.J. (1998). Recent advances in paedi-
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Kesson, A.M., Zeng, F., Cunningham, A.L., &
Rawlinson, W.R. (1998). The use of flow
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human cytomegalovirus. Journal of Virological
Methods, 71, 177-186.
Kesson, A.M. (1998). Use of acyclovir in her-
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Paediatrics and Child Health, 34, 9-13.
Kirk, E., & Adés, L.C. (1998). Hypoplastic left
heart in cerebro-costo-mandibular syndrome.
Journal of Medical Genetics, 35, 879-879.
Kohn, M.R., Golden, N.H., & Shenker, I.R.
(1998). Cardiac arrest and delirium: presenta-
tions of the refeeding syndrome in severely mal-
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Journal of Adolescent Health, 22(3), 239-243.
Kozlowski, K., & Oates, R.K. (1998). Battered
child syndrome. Roentgenological Radiologica, 4,
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Kuo, R., Bellemore, M., Monsell, F., Frawley,
K., & Kozlowski, K. (1998). Dysplasia epiphy-
sealis hemimelica: clinical features and man-
agement. Journal of Pediatric Orthopaedics, 18,
543-548.
LaRussa, P., Steinberg, S., Arvin, A., Dwyer,
D., Burgess, M., Menegus, M., Rekrut, K.,
Yamanishi, K., & Gershon, A. (1998).
Polymerase chain reaction and restriction frag-
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la-zoster virus isolates from the United States
and other parts of the world. Journal of
Infectious Diseases, 178 Suppl 1, S64-S66
Lawson, J.A., Nguyen, W., Bleasel, A., Vogrin,
S., Cook, M.J., Bye, A.M., & Pereira, J.K.
(1998). ILAE defined epilepsy syndrome in
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Epilepsia, 39, 1345-1349.
Leonard, H., & Bower, C. (1998). Is the girl
with Rett Syndrome normal at birth?
Developmental Medicine & Child Neurology, 40,
115-121.
Lord, B., & Pockett, R. (1998). Perceptions of
social work intervention with bereaved clients.
Social Work in Health Care, 27, 51-66.
Luders, H., Acharya, J., Baumgartner, C.,
Benbadis, S., & Bleasel, A. (1998). Semiology
seizure classification. Epilepsia, 39, 1006-
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Luders, H., Acharya, J., Baumgartner, C.,
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epileptic seizure classification based exclusive-
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Massie, R.J.H., Towns, S.J., Bernard, E.,
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cystic fibrosis. Journal of Paediatrics and Child
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Massie, R.J.H., Cooper, P.J., Van Asperen, P.P.,
& McIntyre, P. (1998). Pneumocystis carinii
pneumonia: Pitfalls of prophylaxis. Journal of
Paediatrics and Child Health, 34, 477-479.
McCowage, G.B., Phillips, K.L., Gentry, T.L.,
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cell sorting analysis of retroviral vector gene
transfer into primitive umbilical cord blood
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McCowage, G.B., Friedman, H.S., Moghrabi,
A., Kerby, T., Ferrell, L., Stewart, E., Duncan-
Brown, M., Fuchs, H.E., Tien, R., McLendon,
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Colvin, O.M., & Longee, D.C. (1998). Activity
of high-dose cyclophosphamide in the treat-
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McIntosh, E.D., Givney, R., Zhang, S.S.,
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hepatitis B in recent immigrant families to
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McIntyre, P., Forrest, J., Heath, T., Burgess, M.,
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structure and function in Eisenmenger's
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Moses Lahra, M., Heath, P.T., Wilkinson, A.R.,
Jeffery, H.E., & Isaacs, D. (1998). Early-onset
group B streptococcal neonatal infection in
Oxford. Archives of Disease in Children, Fetal
and Neonatal Edition, 79, F148-F149
Mowat, D.R., Croaker, G.D., Cass, DT., Kerr,
B.A., Chaitow, J., Adés, L.C., Chia, N.L., &
Wilson, M.J. (1998). Hirschsprung disease,
microcephaly, mental retardation and charac-
teristic facial features: delineation of a new
syndrome and identification of a locus at chro-
mosome 2q22-q23. Journal of Medical Genetics,
35, 617-623.
Mulley, J., Saar, K., Hewitt, G., Ruschendorf, F.,
Phillips, H., Colley, A., Sillence, D., Reis, A., &
Wilson, M. (1998). Gene localization for an
autosomal dominant familial periodic fever to
12p13. American Journal of Human Genetics,
62, 884-889.
Nagy, S. (1998). A comparison of the effects of
patients' pain on nurses working in burns and
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Nicholson, G., Ouvrier, R., & Ikegami, T.
(1998). De novo mutation of the myelin Po
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Mutation, Suppl 1, S103-S105.
Nourse, C.R., Mattei, M.G., Gunning, P., &
Byrne, J.A. (1998). Cloning of a third member
of the D52 gene family indicates alternative
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Biochim Biophys Acta, 1443, 155-168.
Nunn, K., Thompson, S., Moore, S., English,
M., & Byrne, N. (1998). Managing pervasive
refusal syndrome: Strategies of hope. Clinical
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Oates, R.K., Tebbutt, J., Swanston, H., Lynch,
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Ouvrier, R. (1998). Progres en genetique des
neuropathies peripheriques chez l'enfant. Arch
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Ouvrier, R. (1998). The hypomyelinating neu-
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154, 481-487.
Parasyn, A., Hanson, R.M., Peat, J.K., & De
Silva, M. (1998). A comparison between digi-
tal images viewed on a picture archiving and
communication system diagnostic workstation
and on a PC-based remote viewing system by
emergency physicians. Journal of Digital
Imaging, 11, 45-49.
Parsons, S., Celermajer, D., Savidis, E., Miller,
O., & Young, I. (1998). The effect of inhaled
nitric oxide on 6-minute walk distance in
patients with pulmonary hypertension. Chest,
114, 70S-72S.
Pelletier, D., Duffield, C., Mitten-Lewis, S.,
Nagy, S., & Crisp, J. (1998). Australian nurses
and device use: the ideal and the real in clinical
practice. Australian Critical Care, 11, 10-14.
Phan, T., & Bleasel, A. (1998). Transient loss
of consciousness: Diagnosis and investigation.
Modern Medicine, 41, 38-49.
Reed, E.E., Roy, L.P., Gaskin, K.J., & Knight,
J.F. (1998). Nutritional intervention and
growth in children with chronic renal failure.
Journal of Renal Nutrition, 8, 122-126.
Rimoin, D.L., Francomano, C.A., Giedion, A.,
Hall, C., Kaitila, I., Cohn, D., Gorlin, R., Hall, J.,
Horton, W., Krakow, D., Le Merreur, M.,
Lachman, R., Poznanski, A., Sillence, D.,
Spranger, J., Warman, M., Superti-Furga, A., &
Wilcox, W. (1998). International nomenclature
and classification of the osteochondrodys-
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79, 376-382.
Robertson, C.F., Norden, M.A., Fitzgerald, D.A.,
Connor, F.L., Van Asperen, P.P., Cooper, P.J.,
Francis, P.N., & Allen, H.D.W. (1998).
Treatment of acute asthma: salbutamol via jet
nebuliser vs spacer and metered dose inhaler.
Journal of Paediatrics and Child Health, 34, 142-
146.
Robertson, C.F., Dalton, M.F., Peat, J.K., Haby,
M.M., Bauman, A., Kennedy, J.D., & Landau,
L.I. (1998). Asthma and other atopic diseases
in Australian children. Australian arm of the
International Study of Asthma and Allergy in
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Roebuck, D.J., Nicholls, W.D., Bernard, E.J.,
Kellie, S.J., & Howman-Giles, R. (1998).
Misleading leads. Thallium-201 uptake in
rebound thymic hyperplasia. Medical &
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Rogers, M. (1998). Herpes simplex virus infec-
tion: clinical presentations in children. Modern
Medicine of Australia, 41, 44-49.
Rogers, M. (1998). Scalp scaling in children.
Pharmacy Paediatric Review, 2, 3-4.
1999
Rohan, J., Harris, P., & Stiefel, I. (1998). Yes,
and ....: An object relations response.
Australian and New Zealand Journal of Family
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Royle, J., Williams, K., Elliott, E., Sholler, G.,
Nolan, T., Allen, R., & Isaacs, D. (1998).
Kawasaki disease in Australia, 1993-1995.
Archives of Disease in Childhood, 78, 33-39.
Russell, J., Baur, L., Byrnes, S., Zipfel, S., &
Beumont, P. (1998). Refeeding of anorexics:
wasteful not wilful. Lancet, 352, 1445-1446.
Schull, M., Battista, R.N., Brophy, J., Joseph,
L., & Cass, D. (1998). Determining appropri-
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Seymour, J.F., Begley, C.G., Dirksen, U.,
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Schoch, O.D., Van Asperen, P.P., Roth, B.,
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hematopoietic response to granulocyte-
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Shann, F., Macgregor D., Richens, J., &
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Sheffield, L.J., Osborn, A., Hutchinson, W.,
Sillence, D.O., Forrest, S.M., White, S., & Dahl,
H.H. (1998). Segregation of mutations in aryl-
sulphatase E and correlation with the clinical
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Journal of Medical Genetics, 35, 1004-1008.
Sherwood, M.C., Lau, K.C., & Sholler, G.F.
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Shrimpton, S., Oates, R.K., & Hayes, S. (1998).
Children's memory of events: effects of stress,
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Silink, M. (1998). Practical management of
diabetic ketoacidosis in childhood and adoles-
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Smith, A., Robson, L., & Buchholz, B. (1998).
Angelman syndrome due to paternal UPD: two
more cases with normal growth. Clinical
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Smyth, C., Logan, G., Weinberger, R.P., Rowe,
P.B., Alexander, I.E., & Smythe, J.A. (1998).
Identification of a dynamic intracellular reser-
voir of CD86 protein in peripheral blood mono-
cytes that is not associated with the Golgi com-
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Spence, K. (1998). Ethical issues for neonatal
nurses. Nursing Ethics, 5, 206-217.
Spence, K. (1998). Ethically significant issues
for neonatal nurses. Neonatal, Paediatric, Child
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Starr, M., Bennett-Wood, V., Bigham, A., de
Koning-Ward, T., Bordun, A., Lightfoot, D.,
Bettelheim, K., Jones, C., & Robins-Browne, R.
(1998). Haemolytic uremic syndrome following
urinary tract infection with enterohemorrhagic
Escherichia. Clinical Infectious Diseases, 27,
310-315.
Stevens, M.M. (1998). Children and grief: a
paediatric oncology perspective. Grief Matters,
The Australian Journal of Grief and Bereavement,
1, 12-15.
Tang, S.F., Sherwood, M.C., & Miller, O.
(1998). Randomised trial of three doses of
inhaled nitric oxide in acute respiratory dis-
tress syndrome. Archives of Diseases in
Childhood, 79, 415-418.
Temm-Grove, C.J., Jockusch, B.M., Weinberger,
R.P., Schevzov, G., & Helfman, D.M. (1998).
Distinct localizations of tropomyosin isoforms
in LLC-PK1 epithelial cells suggests special-
ized function at cell-cell adhesions. Cell
Motility & the Cytoskeleton, 40, 393-407.
Thomis, M., Beunen, G., Maes, H., Blimkie, C.,
Van Leemputte, M., Claessens, A., Marchal, G.,
Willems, E., & Vlietinck, R. (1998). Strength
training: Importance of genetic factors.
Medicine and Science in Sports and Exercise, 30,
724-731.
Thomis, M., Beunen, G., Van Leemputte, M.,
Maes, H., Blimkie, C., Claessens, A., Marchal,
G., Willems, E., & Vlietinck, R. (1998).
Inheritance of static and dynamic arm strength
and some of its determinants. Acta
Physiologica Scandinavica, 163, 59-71.
Tzioumi, D., & Oates, R.K. (1998). Subdural
hematomas in children under 2 years.
Accidental or inflicted? A 10-year experience.
Child Abuse & Neglect, 22, 1105-1112.
Van Asperen, P.P. (1998). Preventative med-
ication in childhood asthma. Pharmacy
Paediatric Review, 5, 1-3.
Waters, K.A., Forbes, P., Morielli, A., Hum, C.,
O'Gorman, A.M., Vernet, O., Davis, G.M.,
Tewfik, T.L., Ducharme, F.M., & Brouillette,
R.T. (1998). Sleep-disordered breathing in chil-
dren with myelomeningocele. Journal of
Pediatrics, 132, 672-681.
Waugh, M.C., Chong, W.K., & Sonksen, P.
(1998). Neuroimaging in children with congen-
ital disorders of the peripheral visual system.
Developmental Medicine & Child Neurology, 40,
812-819.
White, L., Kellie, S., Gray, E., Toogood, I.,
Waters, K., Lockwood, L., Macfarlane, S., &
Johnston, H. (1998). Postoperative chemother-
apy in children less than 4 years of age with
malignant brain tumors: promising initial
response to a VETOPEC-based regimen. A
Study of the Australian and New Zealand
Children's Cancer Study Group (ANZCCSG).
Journal of Pediatric Hematology/Oncology, 20,
125-130.
90
publications
1999
Williams, A., Sekaninova, S., & Coakley, J.
(1998). Supression of elevated alanine amino-
Reviews
transferase activity in liver disease by vigaba-
Amin, J., McIntyre, P.B., & Heath, T.C. (1998).
trin. Journal of Paediatrics and Child Health, 34,
Measles vaccine, inflammatory bowel disease
395-397.
and pervasive developmental disorder: is there
cause for concern? Communicable Diseases
Williams, A.J., Coakley, J., & Christodoulou, J.
Intelligence, 22, 58-59.
(1998). Automated analysis of mitochondrial
enzymes in cultured skin fibroblasts.
Donaghue, K.C. (1998). Autonomic neuropa-
Analytical Biochemistry, 259, 176-180.
thy: diagnosis and impact on health in adoles-
cents with diabetes. Hormone Research, 50
Williams, F., Knapp, D., & Wallen, M. (1998).
Suppl 1, 33-37.
Comparison of the characteristics and features
of pressure garments used in the management
Flaherty, L., Moloney, J., Watson, N., Robson,
of burns scars. Burns, 24, 329-335.
L., Bousfield, L., & Smith, A. (1998). A case of
monosomy 21 found to be an unbalanced de
Williams, G.D., Matthews, N.T., Choong, R.K.,
novo t(5p;21q) by fluorescence in situ
& Ferson, M.J. (1998). Infant pertussis deaths
hybridization. Journal of Intellectual Disability
in New South Wales 1996-1997. Medical
Research, 42, 254-258.
Journal of Australia, 168, 281-283.
Gunning, P., Hardeman, E., Jeffrey, P., &
Williams, K., & Elliott, E. (1998). Role of the
Weinberger, R. (1998). Creating intracellular
Australian Paediatric Surveillance Unit in mon-
structural domains: spatial segregation of actin
itoring communicable diseases of childhood.
and tropomyosin isoforms in neurons.
Communicable Disease Intelligence, 22, 283-287.
Bioessays, 20, 892-900.
Wu, T., Ng, Y., & Ouvrier, R. (1998). Drug
Gunning, P., Weinberger, R., Jeffrey, P., &
Therapy in juvenile dermatomyositis. A follow-
Hardeman, E. (1998). Isoform sorting and the
up study. Journal of Child Neurology, 13, 109-
creation of intracellular compartments. Annual
112.
Review of Cell & Developmental Biology, 14,
339-372.
Yang, G.C., Croaker, G.D., Zhang, A.L.,
Manglick, P., Cartmill, T., & Cass, D. (1998). A
Hanson, R., Phythian, M., Jarvis, J., & Stewart,
dinucleotide mutation in the endothelin-B
C. (1998). The true cost of treating children.
receptor gene is associated with lethal white
Medical Journal of Australia, 169, S39-S41.
foal syndrome (LWFS): a horse variant of
Hirschsprung's disease (HSCR). Human
Isaacs, D., & Mellis, C.M. (1998).
Molecular Genetics, 7, 1047-1052.
Tuberculosis in children in Australia: strate-
gies for control. Paediatric Special Interest
Group of the Australasian Society for
Infectious Diseases and the Australasian
Paediatric Respiratory Group. Medical Journal
of Australia, 168, 121-124.
McIntyre, P., & Craig, J.C. (1998). Prevention
of serious bacterial infection in children with
nephrotic syndrome. Journal of Paediatrics &
Child Health, 34, 314-317.
McIntyre, P.B., O'Brien, E.D., & Heath, T.C.
(1998). Immunisation and asthma.
Communicable Disease Intelligence, 22, 38.
McIntyre, P.B., Heath, T.C., O'Brien, E.D., &
Hull, B.P. (1998). National immunisation cov-
erage--interpreting the first three quarterly
reports from the ACIR. Communicable Disease
Intelligence, 22, 111-112.
North, K. (1998). Clinical Aspects of
Neurofibromatosis 1. Seminars in Pediatric
Neurology, 5, 231-242.
North, K. (1998). Clinical aspects of
Neurofibromatosis. European Journal of
Paediatric Neurology, 2, 1-9.
Peat, J., & Bjorksten, B. (1998). Primary and
secondary prevention of allergic asthma.
European Respiratory Journal (Suppl), 27, 28S-
34S.
Peat, J.K. (1998). Asthma: a longitudinal per-
spective. Journal of Asthma, 35, 235-241.

Peat, J.K., Toelle, B.G., & Nagy, S.A. (1998).
Qualitative research: a path to better health-
care. Medical Journal of Australia, 169, 327-
329.
Peat, J.K. (1998). Can asthma be prevented?
Evidence from epidemiological studies of chil-
dren in Australia and New Zealand in the last
decade. Clinical & Experimental Allergy, 28,
261-265.
Peat, J.K., Dickerson, J., & Li, J. (1998).
Effects of damp and mould in the home on res-
piratory health: a review of the literature.
Allergy, 53, 120-128.
Saggesse, G., Ranke, M.B., Saenger, P.,
Rosenfield, R.G., Cowell, C.T., Tanaka, T.,
Chaussain, J.L., & Savage, M.O. (1998).
Diagnosis and treatment of growth hormone
deficiency in children and adolescents: towards
a consensus. Ten years after the availability of
recombinant human growth hormone workshop
held in Pisa, Italy. Hormone Research, 50, 320-
340.
Wilcken, B. (1998). Neonatal screening for
cystic fibrosis: it is time. Pediatric
Pulmonology, 26, 219-221.
Wilcken, D.E., & Wilcken, B. (1998). B vita-
mins and homocysteine in cardiovascular dis-
ease and aging. Annals of the New York
Academy of Sciences, 854, 361-370.
publications
RESEARCH REPORT
Books, Book Chapters and
Forewords
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Bailey, J.G., & Barton, B. (1998). Challenges of
re-entering home and school for children and
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Ballard (Ed.), The voices of students with dis-
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Bailey, J.G. (1998). Medical and psychological
models in special education. In C. Clark, A.
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Bennett, D.L., & Reed, M.S. (1998).
Adolescent health care: A collaborative chal-
lenge. In Vesna, Dramusic, & S.S. Ratman
(Eds.), Clinical approach to paediatric and ado-
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Oxford University Press.
Christodoulou, J., & McInnes, R.R. (1998). A
clinical approach to inborn errors of metabo-
lism. In A. Rudolph & R. Kamei (Eds.),
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Cowell, C. (1998). Non-invasive methods of
studying bone metabolism. In GH and Bone.
(pp. 7-9). London: Oxford Clinical
Communications.
Donaghue, K. (1998). Retinopathy. In Werther,
G.A. & Court, J.M. (Eds.), Diabetes and the ado-
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Publishers.
Donaghue, K. (1998). Diabetes complications
screening. In Werther, G.A. & Court, J.M.
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Gillis, J., & Hutchins, P. (1998). Home ventila-
tion: indications, ethics and practicalities. In A.
Duncan (Ed.), Fundamentals of anaesthesia and
acute medicine: paediatric intensive care. London:
BMJ Publishing Group.
Gillis, J. (1998). Design of a paediatric inten-
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Gillis, J. (1998). Paediatric intensive care.
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Gschwind, C., & Tonkin, M. (1998). Posterior
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Isaacs, D. (1998). Infections due to viruses
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Morrison, A. (1998). Burns. In ENPC Provider
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Rogers, M., & Barnetson, R. (1998). Diseases
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Rutland, J., Morgan, L., Waters, K.A., Van
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Tonkin, M. (1998). Humeroradial synostosis.
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cy. In D. Green, R. Hotchkiss, & W. Pederson
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Burgner, D., McDonald, D., Watson, M., &
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Pike, M. (1998). A 6-year old child with vacant
Journal of Paediatrics and Child Health 34, 398-
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Cocks, A. J. (1998). Cardiopulmonary resusci-
New York: Churchill Livingstone. gistic effects of stimulants and parental psy-
tation in children. Modern Medicine of Australia,
chotherapy in the treatment of attention deficit
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Tonkin, M. (1998). Longitudinal intersegmen- hyperactivity disorder: a case report. Journal of
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Hogan, P. (1998). Localised alopecia of the
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Hogan, P. A. (1998). What is folliculitis?
Australian Family Physician 27, 528-529.

Hogan, P. A. (1998). Paediatric dermatology.

Impetigo. Australian Family Physician 27, 735-
736.

Howell, N., Bogolin, C., Jamieson, R., Marenda,

D. R., and Mackey, D. A. (1998). mtDNA muta-
tions that cause optic neuropathy: how do we
know? American Journal of Human Genetics 62,
196-202.

Isaacs, D. and Donald, P. (1998). Your diagno-

sis please. Brothers with fever and abdominal
pain. Pediatric Infectious Diseases Journal 17,
665-666.

Isaacs, D. and McIntyre, P. (1998). Penicillin or

third-generation cephalosporin in doctors'
bags. Medical Journal of Australia 168, 195.

Kohn, M. R. and Hughes, M. (1998). Substance

use in adolescence. The Australian Paediatric
Review 7, 1.

Kung, S. H., Hagstrom, J. N., Cass, D., Tai, S. J.,

Lin, H. F., Stafford, D. W., and High, K. A.
(1998). Human factors IX corrects the bleeding
diathesis of mice with hemophilia B. Blood 91,
784-790.

Peat J.K. (1998). Dietary fatty acids and asth-

ma. Respira 5, 1-3.

Selvadurai, H., McIntyre, P., and Mellis, C. M.

(1998). Lest we forget acute epiglottitis.
Journal of Paediatrics and Child Health 34, 306-
307.

Sholler, G. F. (1998). How to investigate the

child with heart murmur. Modern Medicine of
Australia September, 100-103.

92

Abstracts
Adés, L.C., Sreetharan, D., Holman, K.J., &
Watson, K.C. (1998). Segregation of kyphosco-
liosis with a novel FBN1 gene mutation,
G1796E, in three generations. Human Genetics
Society of Australasia 22nd Annual Scientific
Meeting, Melbourne.
Adés, L.C., Sreetharan, D., Holman, K.J., &
Watson, K.C. (1998). A novel FBN1 mutation,
G1796E, segregates with kyphoscoliosis in
three generations. Fifth International
Symposium on the Marfan syndrome, Helsinki.
Alexander, I.E. (1998). Gene Therapy -
Molecular Surgery? Royal Australasian College
of Surgeons Annual Scientific Congress, Sydney.
Alvaro, F., To, B., Mrongovius, R., Teideman,
K., McCowage, G.B., Berdoukas, V., Lockwood,
L., Toogood, I., & Corbett, R. (1998).
Mobilization and engraftment of peripheral
blood stem cells; Preliminary results from
VETOPEC II. Clinical Oncological Society of
Australia, Sydney.
Atkins, M.C., Hatfield, C., & Afify, Z. (1998).
Stem cell transplantation at RAHC: towards
2000. Society for Hospital Pharmacists
Association state branch conference, Gosford.
Badawi, N., Kurinczuk, J.J., Keogh, J.M.,
Alessandri, L.M., Burton, P.R., O'Sullivan, F.,
Pemberton, P.J., & Stanley, F.J. (1998).
Neonatal encephalopathy in the term infant.
8th International Child Neurology Congress,
Slovenia.
Badawi, N., Keogh, J.M., Kurinczuk, J.J.,
Burton, P.R., Pemberton, P.J., & Stanley, F.J.
(1998). The role of Caesarean sections in new-
born encephalopathy. Perinatal Society of
Australia and New Zealand, second annual con-
gress, Alice Springs.
Baines, D., & Sheil, M. (1998). Intraoperative
transoesophageal echocardiography in congen-
ital heart disease. Innovation & Achievement
Conference, Sydney.
Bakker, K., & Hannan, T. (1998). A longitudi-
nal study of childhood amnesia. Australian
Journal of Psychology, 50, 132.
Baur, L.A. (1998). Obesity in childhood and
adolescence. Proceedings of the Endocrine
Society of Australia Annual Postgraduate
Seminar, Adelaide.
Baur, L.A. (1998). Energy expenditure and
substrate utilisation in anorexia nervosa and
obesity. Proceedings of the Endocrine Society of
Australia Annual Postgraduate Seminar, Adelaide.
Baur, L.A., O'Connor, J., Pan, D.A., & Storlien,
L.H. (1998). Muscle membrane lipid composi-
tion in young children: relation to indices of
maternal insulin resistance. Proceedings of the
Royal Australasian College of Physicians Annual
Scientific Meeting, Melbourne.
90
publications
RESEARCH REPORT
Beckman, U., Baldwin, I., Durie, M., Morrison,
A., & Shaw, L. (1998). Problems associated
with endotracheal tube securing: an analysis of
the first 2800 incident reports submitted to
AIMS-ICU. Anaesthesia & Intensive Care, 26,
450.
Beckman, U., Baldwin, I., Durie, M., Morrison,
A., & Shaw, L. (1998). Paediatric drug errors
identified in the first 2800 incident reports
submitted to the Australian Incident
Monitoring Study in Intensive Care (AIMS-
ICU). Anaesthesia & Intensive Care, 26, 435-
436. (abstract)
Bennetts, B. (1998). The HLA-DRB1
Val86/Val86 genotype associates with MS in
both DRB1*1501 and non-DRB1*1501
Australian patients. Progress in Multiple
Sclerosis Research, Melbourne.
Bernhardt, P. (1998). Extracorporeal perfusion
systems and paediatric modifications.
Innovation & Achievement Conference, Sydney.
Blimkie, C., Duncan, C., Burke, S., Kemp, A.,
Briody, J., Woodhead, H., Cowell, C., &
Howman-Giles, R. (1998). Mechanical load
distribution, leg strength and mid-femur geom-
etry in elite adolescent female athletes. Bone
23, 589.
Booth, M.L., Macaskill, P., Lazarus, R., &
Baur, L.A. (1998). Sociodemographic relation-
ships of body fatness in Australian children and
adolescents. International Journal of Obesity, 22
(Suppl 3), S209.
Boulton, T.J.C., Cowell, C., Baur, L.A.,
Margarey, A., & Landers, M. (1998). Nutrition
in early life: somatic growth and serum lipids.
Proceedings of the XIth Medical Symposium of the
Yrjo Jahnsson Foundation, Finland.
Bousfield, L., Macleod, R., Chia, N.L., & Adés,
L.C. (1998). Possible origin of a case of a de
novo mosaicism involving two post-zygotic
events: translocation and trisomic rescue.
Human Genetics Society of Australasia 22nd
Annual Scientific Meeting, Melbourne.
Browne, G.J., & Penna, A.C. (1998). Effective
use of beta2-agonists in childhood asthma. 7th
International Conference on Emergency Medicine,
Vancouver.
Browne, G.J., Peat, J.K., & Mellis, C.M. (1998).
Epidemiology of asthma and geographic varia-
tions. 7th International Conference on Emergency
Medicine, Vancouver.
Browne, G.J., & McIntyre, P.B. (1998).
Disposition and follow-up of febrile children
and infants in the emergency department. 7th
International Conference on Emergency Medicine,
Vancouver.
Browne, G.J., Cass, D.T., Ross, F., & Lam, L.
(1998). Prevention in paediatric injury. 7th
International Conference on Emergency Medicine,
Vancouver.
1999
Browne, G.J. (1998). Early evolution of obser-
vation wards in Australian general hospital.
Observation Medicine Conference, Dallas.
Browne, G.J. (1998). Short stay facilities: The
future of efficient paediatric emergency servic-
es. Observation Medicine Conference, Dallas.
Brunsdon, R.K., & Coltheart, M. (1998).
Tactile reading in neglect dyslexia. Australian
Journal of Psychology, 50, 135.
Carpenter, K., Wiley, V., Sim, K., & Wilcken, B.
(1998). Problems and pitfalls in acylcarnitine
analysis by electrospray tandem mass spec-
trometry. Human Genetics Society of
Australasia/Australasian Society for Inborn
Errors of Metabolism Annual Scientific Meeting,
Melbourne.
Carr, D., & Merrick, J. (1998). Long term
effects of treatment in childhood lymphoma.
Society International Oncology Paediatric
Meeting, Istanbul.
Chaitow, J., Seton, C., & Smith, A. (1998).
PWS in a premature baby. 3rd International
Prader Willi Syndrome Organisation Scientific
Conference, Venice.
Chard, R. (1998). The extracardiac conduit
fontan procedure. Innovation & Achievement
Conference, Sydney.
Cheng S, Hobson L, & Higgins GM. (1998).
Standard formula TPN for kids - Myth or reali-
ty. Society for Hospital Pharmacists Association
state branch conference, Gosford.
Chin C, & Betteridge K. (1998). The use of
growth hormone in children with severe burns.
4th Annual Neonatal Paediatric Pharmacists
Group Conference, Dublin.
Christodoulou, J., Williams, A.J., Murrell, M.J.,
Brammah, S., & Minchenko, J. (1998). Utility
of rhodamine 6G (R6G) in assessing the mode
of inheritance in mitochondrial respiratory
chain disorders. American Journal of Human
Genetics, 63, A264.
Christodoulou, J., Colley, A., McQuade, L.,
Sachdev, R., & Wilson, M.J. (1998). The 22q
deletion disorders: an evolving phenotype.
Human Genetics Society of Australasia 22nd
Annual Scientific Meeting, Melbourne.
Christodoulou, J., Williams, G.D., Stack, J.,
Symons, P., Wert, S.E., Murrell, M.J., & Nogee,
L.M. (1998). Genetic analysis of a case of sur-
factant protein B deficiency. Human Genetics
Society of Australasia/Australasian Society of
Inborn Errors of Metabolism Annual Scientific
Meeting, Melbourne.
Cocks, A.J., Gillis, J., & Choong, R.K. (1998).
A brave new world: computer assisted learn-
ing. Joint Scientific Meeting Royal Australian
College of Physicians-Australian College of
Physicians, Melbourne.
Codarini, M., & Kakakios, A. (1998).
Challenging food allergy. Australasian Society
of Clinical Immunology and Allergy 9th Annual
Scientific Meeting, Brisbane.
93
 publications
RESEARCH REPORT
Codarini, M. (1998). Primary immunodeficien-
cy disorders in Australian children, 1997.
Australian Paediatric Surveillance Unit Scientific
Meeting, Adelaide.
Constantin, E., Waters, K.A., Morielli, A., &
Brouillette, R.T. (1998). How often do prema-
ture infants adopt the face-down positions?
American Journal of Respiratory and Critical Care
Medicine, 157, A535.
Craig, J.C., Irwig, L.M., Ford, M., Willis, N.,
Howman-Giles, R.B., Uren, R.F., Rossleigh,
M.A., & Grunewald, S. (1998). Reliability of
DMSA for the diagnosis of kidney damage in
children. American Society of Nephrology,
Philadelphia.
Craig, J.C. (1998). Management of vesi-
coureteric reflux - time for a change?
Australian Association of Consultant
Physicians/Royal Australian College of
Physicians, Melbourne.
Craig, J.C., Wheeler, D., Irwig, L.M., &
Howman-Giles, R.B. (1998). How accurate is
DMSA scintigraphy for the diagnosis of acute
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Cutler, L., Nunn, K., Donaghue, K., Kohn, M., &
Silink, M. (1998). Development of a subjective
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Cutler, L., Donaghue, K., Nunn, K., Kohn, M., &
Silink, M. (1998). Psychological morbidity and
hope in young adults with childhood onset type
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Daniel, A., Malafiej, P., Cross, J., Nguyen, K.,
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Daniel, A., Oner, G., Turner, A., & Osborn, R.
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Delaney, L., Joy, P., & Coltheart, M. (1998).
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Diao, J., Rowe, P., Smythe, J., & Alexander, I.E.
(1998). Induction of antigen-specific CTL
responses against a vector encoded model anti-
gen by human PBMC-derived dendritic cells fol-
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Society of Gene Therapy 1st Annual Meeting,
Seattle.
Dias, L.S., Schell, D.N., Nunn, G.R., & Burcher,
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tachykinin receptors in the cardiopulmonary
circulation of children with congenital heart
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Australasian Section Annual Scientific Meeting,
Sydney.
Dias, L.S., Schell, D.N., Nunn, G.R., & Burcher,
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children with pulmonary hypertension second-
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Meeting, Melbourne.
Dias, L.S., Schell, D.N., Nunn, G.R., & Burcher,
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tachykinin receptors in the cardiopulmonary
circulation of children with congenital heart
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Dittmer, J. (1998). Video recording systems for
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Dixon, G., Badawi, N., Kurinczuk, J.J.,
Pemberton, P.J., Vukovich, S., & Stanley, F.J.
(1998). Early developmental outcomes follow-
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of Australia and New Zealand, Second Annual
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Donaghue, K., Chan, A., Fairchild, J.M., Hing, S.,
Howard, N.J., & Silink, M. (1998). Diabetes dura-
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International Society for Paediatric and Adolescent
Diabetes Annual Scientific Meeting, Stockholm.
Donaghue, K., Cusumano, J., Verge, C., Chan, A.,
Fairchild, J.M., Hing, S., Crocker, M., Howard, N.J.,
& Silink, M. (1998). Six year follow-up of a dia-
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Australasian Paediatric Endocrine Group Annual
Scientific Meeting, Perth.
Donaghue, K., Chan, A., Fairchild, J.M., Hing,
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(1998). Transient diabetes microvascular com-
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Society for Paediatric and Adolescent Diabetes
Annual Scientific Meeting, Stockholm.
Dowrick, M., Bailey, J.G., Parmenter, T., &
Shaddock, T. (1998). Research, practice and
advancement-making school renewal effective
using a multi-attribute evaluation outcomes
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Australian Association of Special Education Inc,
Canberra.
Dudding, T., Wilcken, B., Burgess, B., Hambly,
J., & Turner, G. (1998). Reproductive decisions
made by couples following neonatal identifica-
tion of cystic fibrosis by newborn screening.
Human Genetics Society of Australasia/
Australasian Society for Inborn Errors of
Metabolism Annual Scientific Meeting,
Melbourne.
Duncan, C., Blimkie, C., Kemp, A., Briody, J.,
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Dunglison, G., Yang, N., Corbett, M., Robinson,
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Hardeman, E. (1998). Transgenic mice
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Dunglison, G., Yang, N., Corbett, M., Robinson,
C., Joya, J., Kim, S., Gunning, P., North, K., &
Hardeman, E. (1998). Transgenic mice
expressing a mutaion in -tropomyosinSLOW
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with human nemaline myopathy. Australian
Society for Medical Research, Hobart.
Edwards, A.M., Gillies, J., Van Asperen, P., Sly,
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European Respiratory Journal, 12, 89S.
Elliott, E., Henning, P., Hogg, G., Knight, J.,
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Elliott, E., Henning, P., Hogg, G., Knight, J.,
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Australian New Zealand Journal Medicine, 28,
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Elliott, E., Robins-Browne, R., Hogg, G.,
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Fairchild, J., Ambler, G., Genoud-Lawton CH,
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P.A. (1998). Insulin lispro versus Humulin R in
Children with IDDM on a twice daily insulin
regimen: preliminary results. Australasian
Paediatric Endocrine Group Annual Scientific
Meeting, Perth.
Fischer, G.O. (1998). Paediatric vulval disease.
Annual Meeting of the British Society for the
Study of Vulval Disease, Oxford.

Fung, D.C., Yu, B., Cheong, K.F., Smith, A., &
Trent, R.J. (1998). Search for UBE3A muta-
tions in patients with Angelman syndrome
shown to be triple-non on previous genetic test-
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Annual Scientific Meeting, Melbourne.
Garnett, S., Bradford, D., Lee, J., Tao, C.,
Bladés, B., Esber, R., Altoumah, B., Meischke,
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1, height, weight, body composition and birth
size in 7 year old children - preliminary results
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Garnett, S., Morgan, R., Meischke, M., Yu, T.,
Clavano, A., Baur, L., Fay, R., Boulton, J., &
Cowell, C. (1998). Birth size, abdominal fat
and lipids in 7 year old chldren: results from
the Nepean Study. International Journal of
Obesity, 22 (Suppl 3), S200.
Gaskin, K.J., Georga, A., Waters, D., Massie, J.,
Dorney, S., Gruca, M., Dutt, S., & Wilcken, B.
(1998). Pancreatic sufficiency in cystic fibrosis
infants diagnosed by a neonatal immunoreac-
tive trypsin/deltaF508 mutation screening
strategy. Fifth International Conference on
Neonatal Screening for Cystic Fibrosis, France.
Gaskin KJ. (1998). Pathophysiology of pancre-
atic disease in cystic fibrosis. Twelfth Annual
North American Cystic Fibrosis Conference,
Montreal.
Grayson, S., Batchelor, J., Joy, P., Lah, S., &
Wilcken, B. (1998). Neuropsychological out-
come in early treated galactosaemia: A
matched case control study. Australian Journal
of Psychology, 50, 139.
Griggs, J., Spence, K., Ellercamp, C., & Jones,
R. (1998). Breastfeeding practices in a chil-
dren's hospital. Perinatal Society of Australia
and New Zealand, Second Annual Congress, Alice
Springs.
Grissell, T., & Kesson, A.M. (1998). Cytokine
production by HIV infected placental
macrophages. Australian Society for HIV
Medicine, Newcastle.
Guadiola, P., Socie, G., Pasquini, R., Dokal, I.,
Ortega, J., van Weel-Sipman, M., Marsh, J.,
Locatelli, F., Soillet, G., Cahn, J., Ljungman, P.,
Miniero, R., Shaw, P., Vermylen, C.,
Archimbaud, E., Bekassy, A., Krivan, G., Di
Bartolomeo, P., Bacugalupo, A., & Gluckman,
E. (1998). Allogeneic stem cell transplantation
for Fanconi Anaemia. Bone Marrow Transplant.,
21, S24-S27.
Halliday, R. (1998). Clinical information sys-
tems database and query developments.
Brisbane Critical Care Information Systems
Satellite symposium, Brisbane.
Hammond, J., Sim, K., Trenholm, A., Stanley,
T., & Wilcken, B. (1998). Sudden infant death
- Two New Zealand cases of carnitine/acylcar-
nitine translocase deficiency. Human Genetics
Society of Australasia/Australasian Society for
Inborn Errors of Metabolism Annual Scientific
Meeting, Melbourne.
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Hammond, J.W., Potter, M., Sim, K., &
Wilcken, B. (1998). Reduced glutathione
(GSH), g-glutamylcysteine (g-GluCys), cysteine
(Cysh) and g-glutamylglutamine (g-GluGln) in
g-GT deficiency. Journal of Inherited Metabolic
Disease, 21, P69.
Hammond, J.W., Sim, K.G., Trenholm, A.,
Stanley, T., & Wilcken, B. (1998). Sudden
death in infancy - two NZ cases of
carnitine/acylcarnitine translocase deficiency.
Journal of Inherited Metabolic Disease, 21, A119.
Hannan, T. (1998). Anxiety, depression and
perceptions of control among primary school
children. Second Annual Conference of the APS
College of Educational & Developmental
Psychologists (NSW), Sydney.
Higgins, G.M., Templeton, F., & Ellaway, C.
(1998). L-Carnitine: Does it offer benefits for
females with Rett Sydrome? Society for
Hospital Pharmacists Association State Branch
conference, Gosford.
Higgins, G.M., Saad, C., & Atkins, M.C. (1998).
Lipid Formulation Amphotericin. Society for
Hospital Pharmacists Association State Branch
conference, Gosford.
Higgins, G.M., & Sillence, D. (1998). Avoiding
broken bones in children with osteogenesis
imperfecta. 4th Annual Neonatal Paediatric
Pharmacists Group Conference, Dublin.
Higgins, G.M., Coxon, L., & Longworth, J.
(1998). On-call rosters; an alternative con-
struction. Society for Hospital Pharmacists
Association State Branch conference, Gosford.
Higgins, G.M., Samson, R., Chin, C., & Cheng,
S. (1998). Liver transplantation for kids.
Society for Hospital Pharmacists Association
State Branch conference, Gosford.
Hogan, P.A. (1998). What's new in paediatric
dermatology? Australasian College of
Dermatologists Annual Meeting, Melbourne.
Howman-Giles, R.B., Craig, J.C., Uren, R.F.,
White, G., Bernard, E., Ford, M., & Crisp, J.
(1998). Variability in the interpretation of
DMSA scintigraphy and application of oblique
SPECT reconstruction. Society of Nuclear
Medicine 45th Annual Meeting, Toronto.
Ingrati, F., Garnett, S., Samman, S., & Cowell,
C.T. (1998). Is zinc related to growth in
Australian children? Dieticians Association of
Australia Meeting, Sydney.
Ip, L., Cheng, S., Hemmens, V., & Chin, C.
(1998). Menigococcal septicaemia - a spec-
trum of presentations, treatments and out-
comes. Society for Hospital Pharmacists
Association State Branch conference, Gosford.
Jaeggi, E.T., Sholler, G.F., Jones, O., & Cooper,
S. (1998). Impact of fetal echocardiography on
the course of major congenital heart disease: A
population based study. American College of
Cardiology Annual Scientific Meeting, Atlanta.
1999
Jarvis, A., Sharma, P., Watson, N., & Smith, A.
(1998). A case of jumping translocation in
childhood ALL. 4th Australasian Society of
Cytogenetics Interim Meeting, Leura.
Jones, K., Kim, S., & North, K. (1998).
Abnormalities of dystrophin, the sarcoglycans
and merosin in the muscular dystrophies.
Australian Association of Neurologists, Brisbane.
Jongeling, B., Badawi, N., Kurinczuk, J.J.,
Pemberton, P.J., Thonell, S., Watson, L., &
Stanley, F.J. (1998). Ultrasound as a predictor
of adverse outcome in term newborn
encephalopathy. Perinatal Society of Australia
and New Zealand, second annual congress, Alice
Springs.
Joy, P. (1998). Amnesia and developmental dis-
order. Australian Journal of Psychology, 50,
140.
Joy, P., & Benson, S. (1998). A case study of a
boy with perceptual and related disorders.
Australian Journal of Psychology, 50, 140.
Kao, Y.L., Donaghue, K., Chan, A., Hing S,
Knight, J., & Silink, M. (1998). Genetics of
Diabetic Retinopathy: Differences in those
diagnosed before 5 years of age. International
Society for Paediatric and Adolecent Diabetes
Annual Scientific Meeting, Stockholm.
Kellie, S.J., de Graaf, S.S., Bloemhof, H., &
Uges, D.D. (1998). Dose escalation of vin-
cristine by continuous infusion in children with
CNS tumors; feasibility and pharmocokinetics.
Proceedings of 8th International Symposium on
Pediatric Neuro-oncology, Rome, 221.
Kendrick, L. (1998). Camp 'Go Ahead'. Speech
Pathology Australia National Conference,
Canberra.
Kendrick, L. (1998). Cognitive communication
impairments in children with traumatic brain
injury: assessment issues. Speech Pathology
Australia National Conference, Canberra.
Keogh, J.M., Badawi, N., Kurinczuk, J.J.,
Burton, P.R., Jongeling, B., Pemberton, P.J., &
Stanley, F.J. (1998). Fetal seizures in newborn
encephalopathy. Perinatal Society of Australia
and New Zealand, Second Annual Congress, Alice
Springs.
Kilpatrick, N., Christodoulou, J., & Wilcken, B.
(1998). Oral health in children with phenylke-
tonuria. Faculty of Medicine Research
Conference, Leura.
Kirk, E., & Wilson, M. (1998). Dominant inher-
itance of cleft palate with minor abnormalities
of hands and feet: a new syndrome? Human
Genetics Society of Australasia 22nd Annual
Scientific Meeting, Melbourne.
Knight, J.F., Zhang, G., & Wu, H. (1998).
Conserved T-cell receptor Vb CDR3 sequences
in IgA nephropathy biopsies. American Society
of Nephrology, Philadelphia.
95

RESEARCH REPORT
Knight, J.F., Zhang, G., & Wu, H. (1998).
Conserved T-cell receptor CDR3 sequences
involved in allorecognition of mutant H-2 anti-
gens. American Society of Nephrology,
Philadelphia.
Koorey, D., Basha, N., Tomaras, C., Freiman, J.,
Robson, L., & Smith, A. (1998). Acute appen-
dicitis, appendiceal carcinoma, familial adeno-
matosis polyposis and a de novo constitutional
translocation with submicroscopic deletion of
the APC gene. Digestion, 59, 707.
Koorey, D., Robson, L., Freiman, J., Basha, N.,
Tomaras, C., & Smith, A. (1998). A de novo
constitutional translocation in a patient with
FAP; characterisation with FISH and DNA
studies. Royal College of Pathologists of
Australia Annual Scientific Meeting, Brisbane.
Kotagal, P.K., & Bleasel, A. (1998).
Nonepileptic paroxysmal disorders in children.
American Academy of Neurology, 50th Annual
Scientific Meeting.
Kumar, R., Smith, G.H.H., & Cohen, R.C.
(1998). Outcome of children with pelviureteric
junction obstruction with acute renal failure.
Australian New Zealand Journal of Surgery, 68,
A113.
Lau, K.C. (1998). Radiofrequency ablation con-
trol of arrhythmia prior to complex cardiac
repair. Innovation & Achievement Conference,
Sydney.
Lawson, J.A., Bleasel, A., Stewart, I., Vogrin,
S., Cook, M.J., & Bye, A.M. (1998). Loss of
cerebral, cerebellar and hippocampal volume in
intractable childhood epilepsy. Epilepsia, 39,
96-97.
Lawson, J.A., Haindl, W., Bleasel, A., Nguyen,
W., Vogrin, S., Cook, M.J., Pereira, J.K., & Bye,
A.M. (1998). Hippocampal asymmetry in child-
hood epilepsy - Does a volumetric abnormality
correlate with ictal hyperperfusion demonstrat-
ed by SPECT. Australian Association of
Neurologists Annual Scientific Meeting.
Levick, W., & Bakker, K. (1998). The amnesic
syndrome in children: A review. Australian
Journal of Psychology, 50, 142.
Li, Z., Elliott, E., Payne, J., & O'Loughlin, E.
(1998). Altered epithelial secretion and per-
meability during infection with adherent E.coli
in T84 colon cancer cells. Gastroenterological
Society of Australia, Canberra.
Little, Y., Kurinczuk, J.J., Badawi, N.,
Pemberton, P.J., Downing, E., & O'Sullivan, F.
(1998). Social disadvantage and its resource
implications in neonates admitted to a tertiary
referral unit. Perinatal Society of Australia and
New Zealand, Second Annual Congress, Alice
Springs.
Logan, G., Smyth, C., Lees, J., Rowe, P.,
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augmentation gene therapy for the treatment of
paediatric cancer. The American Society of Gene
Therapy 1st Annual Meeting, Seattle.
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1999
Longworth, J., Dossetor, D., & Nunn, K. (1998).
Paediatric polypsychopharmacy. Society for
Hospital Pharmacists Association State Branch
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Loughnan, G., Steinbeck, K.S., Richman, R.M.,
& Smith, A. (1998). Care of adults with
Prader-Willi syndrome - a clinical overview. 3rd
International Prader Willi Syndrome Organisation
Scientific Conference, Venice.
Mackay, S., Wallen, M., & Doyle, S. (1998).
Upper limb, perceptual and self care outcome
in children with traumatic brain injury: a con-
trolled prospective study. OT Australia - NSW
11th NSW Conference, NSW.
Mann, L., Crowe, P., & Morrison, A. (1998).
Quality assurance in action: syringe pump
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Meeting on Intensive Care, Adelaide.
Marshall, C., & Maxton, F. (1998). Intractable
pain in burns: The New Children's Hospital
experience. Australian and New Zealand Burns
Association, Sydney.
Marshall, C. (1999). Drug withdrawal in pae-
diatric intensive care. 23rd Australian and New
Zealand Scientific Meeting on Intensive Care,
Adelaide.
Martin, H., Spalding, S., Andronicus, M., &
Oates, R.K. (1998). Children "at risk" in a
burns unit: detection and prevalence. British
Burn Association 31st Annual Meeting, Sheffield.
Massie, R.J.H., Wilcken, B., Wiley, V., Gruca, M.,
Van Asperen, P.P., & Gaskin, K.J. (1998).
Pancreatic function in deltaF508 heterozygotes
with normal sweat electrolytes identified by new-
born screening: 1995-1996. Journal of Paediatrics
and Child Health, 34, A8.
Massie, R.J.H., Wilcken, B., Wiley, V., Gruca,
M., Van Asperen, P.P., & Gaskin, K.J. (1998).
Cystic Fibrosis mutation analysis in deltaF508
heterozygotes with normal sweat electrolytes
identified by newborn screening: 1995-1996.
Journal of Paediatrics and Child Health, 34, A9.
Matthews, K., Steinbeck, K., Sommerville, H.,
Pearson, L., Stevens, M.M., & Saunders, D.
(1998). Female survivors of childhood malig-
nancy: reproductive and endocrine issues.
Which patients are affected? Fertility Society of
Australia Conference, Hobart.
Maxton, F., & Marshall, C. (1998). Securing an
airway: Alternative approaches in pediatric
intensive care. Australian and New Zealand
Burns Association, Sydney.
McCahon, E., Nath, C.E., Shaw, P.J., Gunning, R.,
McLachlan, A.J., & Earl, J.W. (1998). A random-
ized comparison of adverse effects, efficacy and
pharmacokinetics of amphotericin B in lipid and
dextrose in children with cancer. Clinical
Oncological Society of Australia, Sydney.
McGill, B., & Payten, E. (1998). The child's jour-
ney of recovery from a traumatic injury (an occu-
pational therapy approach). 12th International
Congress of the World Federation of Occupational
Therapists, Montreal.
McKay, K. (1998). Wall thickness and smooth
muscle area in infant airways. European
Respiratory Journal, 12, 16S.
McQuade, L., Christodoulou, J., Sachdev, R.,
Budarf, M., Emanuel, B., & Colley, A. (1998).
Two further cases of 22q11.2 deletions with no
overlap to the DiGeorge Syndrome Critical
Region. Human Genetics Society of Australasia
22nd Annual Scientific Meeting, Melbourne.
Mihrshahi, S., Vanlaar, C., Tovey, E., & Peat,
J.K. (1998). Effectiveness of house dust mite
control measures in infants beds: a randomised
controlled trial. Proceedings of the National
Asthma Research Workshop, Sydney.
Miller, O., Tang, S.F., Pigott, N.B., Keech, A.C.,
& Celermajer, D.S. (1998). Pulmonary hyper-
tension after congenital heart surgery. Annual
Scientific Meeting of the Cardiac Society of
Australia and New Zealand, Perth.
Miller, O. (1998). Acute lung injury. 20th
Annual Congress Malaysian Paediatric
Association, Malaysia.
Miller, O. (1998). Inhaled nitric oxide in paedi-
atric intensive care and cardiology. 20th
Annual Congress Malaysian Paediatric
Association, Malaysia.
Miller, O. (1998). Principles and practice of
mechanical ventilation. 20th Annual Congress
Malaysian Paediatric Association, Malaysia.
Minchenko, J., McQuade, L., Bennetts, B., &
Christodoulou, J. (1998). Mutation analysis in
ornithine transcarbamoylase deficiency.
Human Genetics Society of
Australasia/Australasian Society of Inborn Errors
of Metabolism Annual Scientific Meeting,
Melbourne.
Morgan, L., De Jongh, R., Waters, K.A., Van
Asperen, P.P., & Rutland, J. (1998). Clinical
Diagnosis of Primary Ciliary Dyskinesia.
Australia and New Zealand Journal of Medicine,
28, A287.
Morgan, R., Garnett, S., Meischke, M.,
Boulton, T., Cowell, C., & Baur, L. (1998).
Birth size, abdominal fat and lipids in 7 year old
children: results from the Nepean study.
Australain Paediatric Research Society,
Melbourne.
Nath, C.E., McLachlan, A.J., Shaw, P.J., Earl,
J.W., & Gunning R. (1998). Effects of
Amphotericin B on renal function correlate
with Amphotericin B pharmacokinetics in chil-
dren with malignant diseases. The Australasian
Society of Clinical and Experimental
Pharmacologists and Toxicologists, Hobart.
Nath, C.E., McLachlan, A.J., Shaw, P.J.,
Gunning, R., & Earl, J.W. (1998).
Amphotericin B (AmB) pharmacokinetics and
dose recommendations in children with malig-
nant diseases. College of Health Sciences and
Medical Foundation Research Conference, Leura.

Nguyen, K., Daniel, A., Chia, N., Bennetts, B.,
Cotton, C., Cross, J., & Kohlenberg, C. (1998).
A trisomy 21 due to postzygotic isochromo-
some 46,XX,i(21)(q10) with 46,XX result ini-
tially at CVS. Human Genetics Society of
Australia Bulletin, 11, 41.
Nielson, N., & Spence, K. (1998). The experi-
ence of implementing and evaluating The
Newborn Individualised Developmental Care
and Assessment Program (NIDCAP) in a
neonatal nursery. Association of Neonatal
Nurses of New South Wales, Eleventh Annual
Conference, Sydney.
North, K., Yang, N., Wattanasirichaigoo, D.,
Mills, M., Kim, S., Tong, H., Easteal, S., &
Beggs, A. (1998). Functional redundancy of
the human skeletal muscle Actin-Binding
Protein -Actinin-3. International Neuromuscular
Congress, Adelaide.
North, K., Yang, N., Wattanasirichaigoo, D.,
Mills, M., Kim, S., Tong, H., Easteal, S., &
Beggs, A. (1998). Functional redundancy of
the human skeletal muscle Actin-Binding
Protein -Actinin-3. XVIIIth International
Congress of Genetics, Beijing.
North, K., He, Y., Jones, K., Morgan, G., Vignier,
N., Hori, H., Mizuta, T., Tome, F., & Guicheney,
P. (1998). A benign case of congenital
Muscular Dystrophy caused by mutations in
Laminin 2 (Merosin). Australian Association of
Neurologists, Brisbane.
North, K., He, Y., Jones, K., Morgan, G., Vignier,
N., Hori, H., Mizuta, T., Tome, F., & Guicheney,
P. (1998). A benign case of congenital
Muscular Dystrophy caused by mutations in
Laminin 2 (Merosin). International Neuromus-
cular Congress, Adelaide.
Nunn, G. (1998). Novel approaches to atri-
oventricular canal repair. Innovation &
Achievement Conference, Sydney.
O'Connor, H., Baur, L., Davies, P., Storlien, L.,
& Caterson, I. (1998). The effect of dexfenflu-
ramine on energy expenditure. International
Journal of Obesity, 22 (Suppl 3), S277.
O'Flaherty, S.J. (1998). Botulinum toxin use in
cerebral palsy. Spasticity Experts Meeting, Hong
Kong.
O'Loughlin, E., Williams, V., Elliott, E., Perry,
M., & Smith, R. (1998). Urocortin reduces sys-
temic blood pressure and intestinal microvas-
cular flow in the rat. Gastroenterological Society
of Australia, Canberra.
Oates, R.K., Swanston, H., Shrimpton, S., &
O'Toole, B. (1998). What happens to sexually
abused children? 12th International Congress on
Child Abuse and Neglect, Auckland.
Peters, G., Mahjoubi, F., O'Neill, G.,
MacKenzie, H., Daniel, A., Hill, R., & Davey, R.
(1998). Microdissection of amplified drug
resistance genes. An approach to understand-
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RESEARCH REPORT
Sillence, D.O., Briody, J., Hall, J., Cowell, C.,
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98
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Smith, A., Sharma, P., Watson, N., Shaw, P., &
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99
 index of departments
RESEARCH REPORT 1999
Department Section Page

Adolph Basser Cardiac Institute Heart and Blood Vessels 26

Anaesthesia Critically Ill Child 47
Heart and Blood Vessels 26
Kidneys and Bladder 31
Australian Paediatric Surveillance Unit (APSU) Population Health 60
Centre for Kidney Research Kidneys and Bladder 31
Child Protection Unit Population Health 60
Children’s Hospital Education Research Institute (CHERI) Development and Behaviour 53
Children's Chest Research Centre Lungs and Control of Breathing 36
Children's Hospital Institute of Sports Medicine (CHISM) Bones, Joints, Muscles and Skin38 38
Lungs and Control of Breathing 36
Clinical Epidemiology Unit Population Health 60
Dermatology Bones, Joints, Muscles and Skin 12
Emergency Critically Ill Child 47
Immune System and Infectious Diseases 27
Population Health 60
Gene Therapy Research Unit Molecular Medicine and Genetics 12
Immunology and Infectious Diseases Immune System and Infectious Diseases 27
Population Health 60
Intestinal Disease Research Molecular Medicine and Genetics 12
James Fairfax Institute of Paediatric Nutrition Gastrointestinal System and Liver 22
National Centre for Immunisation Research and Surveillance of Vaccine Preventable Immune System and Infectious Diseases 27
Diseases (NCIRS) and The New Children's Hospital's Centre for Population Health 60
Immunisation Research
Neonatology and Grace Neonatal Nursery Critically Ill Child 47
Population Health 60
Neurogenetics Research Unit Development and Behaviour 53
Molecular Medicine and Genetics 12
Nursing Academic Unit Critically Ill Child 47
Development and Behaviour 53
Kidneys and Bladder 31
Occupational Therapy Brain and Nervous System 23
Development and Behaviour 53
Oncology Cancer and Leukaemia 41
Critically Ill Child 47
Development and Behaviour 53
Oncology Research Unit Cancer and Leukaemia 41
Orthopaedic Surgery Bones, Joints, Muscle and Skin 38
Paediatric Intensive Care Unit Critically Ill Child 47
Heart and Blood Vessels 26
Molecular Medicine and Genetics 12
Population Health 60

100
 index of departments
RESEARCH REPORT 1999
Department Section Page

Physiotherapy Brain and Nervous System 23

Critically Ill Child 47
Psychological Medicine Development and Behaviour 53
Population Health 60
Psychology Brain and Nervous System 23
Development and Behaviour 53
Ray Williams Institute of Paediatric Endocrinology, Diabetes and Metabolism Bones, Joints, Muscle and Skin 38
Diabetes and Metabolism 46
Molecular Medicine and Genetics 12
Population Health 60
Rehabilitation Brain and Nervous System 23
Bones, Joints, Muscle and Skin 38
Development and Behaviour 53
Social Work Brain and Nervous System 23
Development and Behaviour 53
Speech Pathology Brain and Nervous System 23
Development and Behaviour 53
Population Health 60
Surgical Research Molecular Medicine and Genetics 12
Population Health 60
T.Y. Nelson Department of Neurology and Neurosurgery Brain and Nervous System 23
Development and Behaviour 53
The Institute of Pathology Bones, Joints, Muscle and Skin 38
(Departments of Biochemistry, Blood Bank, Haematology, Cancer and Leukaemia 41
Histopathology, Microbiology, Virology) Immune System and Infectious Disease 27
Molecular Medicine and Genetics 12
Population Health 60
University Department of Paediatrics and Child Health Bones, Joints, Muscle and Skin 38
Development and Behaviour 53
Gastrointestinal System and Liver 22
Molecular Medicine and Genetics 12
Population Health 60
Urology Gastrointestinal System and Liver 22
Kidneys and Bladder 31
Western Sydney Genetics Program Bones, Joints, Muscle and Skin 38
Brain and Nervous System 23
Cancer and Leukaemia 41
Development and Behaviour 53
Molecular Medicine and Genetics 12
Population Health 60

101
 acknowledgements
RESEARCH REPORT 1999

This report was compiled and edited by...

ANNE O’NEILL
KATHRYN HANCOX
PETER GUNNING
REEGAN OXLEY

Thank You...

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ELLE WENBAN

PRODUCED BY THE RESEARCH AND DEVELOPMENT OFFICE OF THE NEW CHILDREN’S HOSPITAL

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102
notes
RESEARCH REPORT 1999

103
 notes
RESEARCH REPORT 1999

104