SYMPOSIUM: SPECIAL NEEDS

Medical management of
children with Down
syndrome

and Wales 90% of women with antenatal diagnosis of Down syndrome choose to terminate. Despite this there has been no major
change in birth prevalence, probably because women are now
starting their families later, and as incidence of Down syndrome
rises with maternal age there are likely to be more conceptions of
babies with Down syndrome. Babies born to those who decide to
continue the pregnancy after diagnosis, together with those diagnosed after birth (false negative, or screening not performed),
currently give a live birth rate of 1.0/1000 in the UK. It is therefore
likely that there will continue to be more than 700 babies with Down
syndrome born each year in England and Wales.
Paediatricians have a key role in health provision for these
children. Whilst some thrive from an early age and are in good
health throughout childhood there is, among the group as a
whole, an increased risk of congenital abnormalities and a wide
range of medical problems (Box 1). The impact of these problems
on general health, growth and development may be even greater
than would be expected for other children because of the associated developmental delay and learning disability.
Historically, some treatable conditions were thought to be
part of the syndrome and left untreated. There may have been
lack of recognition of potential benefits to overall functioning of
the child or even discrimination. Today we hope that the health
of children with Down syndrome will be monitored as carefully
as that of any child, and treatment offered when necessary so
that their progress is not hampered by additional secondary but
preventable disability, and health problems do not prevent them
reaching their potential.
In this article therefore we consider the Paediatricians role in
ensuring that this is achieved. Inevitably our review cannot be
comprehensive but we cover all major and some less well known
health problems, and less common problems are merely listed in
Box 1.

Patricia M Charleton
Jennifer Dennis
Elizabeth Marder

Abstract
Down syndrome, trisomy 21, is the most common autosomal trisomy, and
commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/1000
live births.
Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated
so that the childrens progress is not hampered by additional secondary
but preventable disability, and health problems do not prevent them
reaching their potential.
In this article we consider the Paediatricians role with a suggested
approach to medical management throughout childhood, and a review
of the most frequently occurring health issues. These include cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic
problems, immune and autistic spectrum disorders, growth and sexual
development.

Keywords Down syndrome; guidelines; trisomy 21

The Paediatricians role

Down syndrome is a common cause of developmental disability.
There is widespread awareness of the associated physical features and variable learning disability, but possibly less understanding of the wide range of health problems which may also
affect those with the syndrome.
Increasingly diagnosis of Down syndrome is made antenatally
and many affected pregnancies are terminated. Data from the National Down Syndrome Cytogenetic Register show that in England

At time of diagnosis
Diagnosis of Down syndrome is increasingly made antenatally.
The Paediatrician may be called on to give information to parents
in order to help them reach a decision about the future of the
pregnancy. However for many babies diagnosis is suspected at or
soon after birth when physical features are noticed. It is essential
that an experienced Paediatrician is then involved immediately in

Confirming the diagnosis

Giving information to the parents

Medical assessment
Confirmation of diagnosis by chromosomal analysis is usually
possible within 48 hours. Most parents prefer to be told of the
suspected diagnosis as soon as possible, and disclosure should
not be delayed until chromosome confirmation. The importance
of disclosure of diagnosis and the way it is handled cannot be
over-stressed. Parents often recall many years later how they
were told and the information given. These initial discussions
will influence how the parents adjust to the diagnosis and how
they view their baby. The news must be shared sensitively,
honestly and non-judgmentally. Information given in these early
days must be up-to-date, balanced, and include positive aspects
as well as describing the difficulties that may be faced. It should
include

Patricia M Charleton MBChB MRCGP MRCPCH is an Associate Specialist

Paediatrician, Department of Community Child Health, Royal Aberdeen
Childrens Hospital, Aberdeen, UK, and Chairman DSMIG (UK and
Ireland). Conflicts of interest: none.
Jennifer Dennis BM MA MSc DCH DM FRCPCH is Specialist Advisor to DSMIG
(UK and Ireland), Oxford, UK. Conflicts of interest: none.
Elizabeth Marder BMedSci BM BS MRCP FRCPCH is a Consultant Paediatrician
and Pathway Lead Clinician for Children and Young People, Nottingham
Childrens Hospital, Nottingham University Hospitals NHS Trust,
Nottingham, UK, Information Team DSMIG (UK and Ireland). Conflicts of
interest: none.

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Dermatological
Dry skin
Folliculitis
Vitiligo
Alopecia

Some specific medical problems that occur more

frequently in people with Down syndrome
Cardiac
Congenital malformations
Cor pulmonale
Acquired valvular dysfunction

Neuropsychiatric
Infantile spasms and other myoclonic epilepsies
Autistic spectrum disorder
Depressive illness
Dementia (adults)

Orthopaedic
Cervical spine disorders
Hip subluxation/dislocation
Patellar instability
Scoliosis
Metatarsus varus
Pes planus

Box 1

Aetiology of Down syndrome (why did it happen? will it

happen again?)

Likely developmental progress (discuss wide variation in
abilities)

Immediate and if appropriate possible future health
concerns

Local resources

Long-term prognosis (life expectancy, what the future may
hold)
Parents should be given contact information for the local
Downs syndrome association (Box 2). Written information
should be given and the Early Support Programme materials are
useful, as well as the Personal Child Health Record (PCHR)
insertb for babies born with Down syndrome. Some parents
appreciate being put in touch with another family with a child
with Down syndrome. They should leave hospital knowing when
they will next be seen, and who they can contact in the meantime
should the need arise. The primary healthcare team should also
be informed.

ENT and Respiratory

Respiratory infections
Conductive hearing loss
Sensorineural hearing loss
Sleep related breathing disorders
Chronic catarrh
Ophthalmic
Refractive errors
Blepharitis
Nasolacrimal obstruction
Cataracts
Glaucoma
Nystagmus
Squint
Keratoconus
Gastrointestinal
Congenital malformations
Feeding difficulties
Gastro-oesophageal reflux
Hirschprungs disease
Coeliac disease

The neonatal period

Every newborn with Down syndrome should have a comprehensive medical assessment focussing on medical problems
associated with the syndrome. Malformations of the gastrointestinal tract usually present clinically but other problems may
not. Even major congenital heart disease may not be evident on
initial clinical examination and appropriate investigative
screening and expert cardiac assessment must be initiated before
discharge from hospital. The eyes should be checked for cataract.
Universal newborn hearing screening and blood spot TSH
screening are particularly important, given the increased prevalence of hearing problems and hypothyroidism in Down syndrome. Recent research also supports checking a neonatal full
blood count (FBC) for transient myeloproliferative disorder.
Some newborns with the syndrome require a significant
period of special care. Average birth weight is 3.07 kg and time to
regain birth weight may be a month or more. Early feeding difficulties are common but with the right support breast feeding
can be achieved by most.

Endocrine
Hypothyroidism
Hyperthyroidism
Diabetes
Immunological
Immune dysfunction
Autoimmune diseases, e.g. inflammatory arthropathy, diabetes,
thyroid disorders, alopecia
Haematological
Transient neonatal myeloproliferative states
Leukaemia
Neonatal polycythaemia
Neonatal thrombocytopenia
Polycythaemia, macrocytosis, leucopenia

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Ongoing medical management

Children with Down syndrome should be offered regular medical review by a Paediatrician throughout childhood. This may
be via a hospital department, child development centre, or
community paediatric service. The type of service offered will

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provide this service. Guidelines for Down syndrome specific

health checks, recommended annually throughout adulthood, are
now available from the Royal College of General Practitioners and
the UK Downs Syndrome Association has produced an Annual
Health Check book (available to all adult members from 2014).
The Paediatrician can help the process of transition by
providing the general practitioner, carers and young person with
a comprehensive report of medical problems, previous healthcare and suggestions for ongoing care. Where the young person
has specific medical problems, the Paediatrician should ensure
that referral to appropriate adult specialists is made.

Useful sources of further information

Down Syndrome Medical Interest Group (UK and Ireland)
www.dsmig.org.uk
The Downs Syndrome Association (UK)
www.downs-syndrome.org.uk
Downs Syndrome Scotland
www.dsscotland.org.uk
Down Syndrome Ireland
www.downsyndrome.ie

Specific medical problems

Cardiac problemsa
Forty to sixty percent of babies with Down syndrome have
congenital heart disease(CHD). Of these, atrio-ventricular septal
defects [AVSD] are the commonest [45%]. Other abnormalities
include Fallots tetralogy and combinations of ventricular and
atrial septal defects.
It is important to establish the cardiac status of all babies with
the syndrome by age 6 weeks, as irreversible pulmonary vascular
disease occurs earlier and more frequently than in other children.
Clinical examination alone is not sufficient. Even babies with
significant defects may have no signs or symptoms. Investigation
in the neonatal period is mandatory. Where neonatal echocardiography is not available locally an ECG with a superior QRS axis
indicates a need for urgent referral for cardiac opinion. Other babies can be referred less urgently. However, by 6 weeks all babies
should have had an echocardiogram and specialist cardiological
assessment, with an action plan for surgery where necessary.
For those requiring surgery initial medical management to
support growth and treat heart failure may be necessary, and
timing of surgery depends on the defect. Early correction decreases the likelihood of complications especially pulmonary
arterial hypertension (PAH), and surgical success is comparable
to that in the general population. Those with complete AVSD or
large VSDs normally have definitive surgical repair at 3e6
months old. Not all defects require surgery, but they all should be
monitored by a cardiologist.
Heart disease can develop later in life. Upper airway
obstruction increases the chance of PAH developing in those with
and without CHD. Primary valvular dysfunction may also
develop in adolescence or early adult life. Heart auscultation for
evidence of acquired heart disease should be included as part of
regular medical review in adulthood.

Downs Heart Group

www.dhg.org.uk
The Down Syndrome Educational Trust
www.downsed.org
Early Support Programme
www.ncb.org.uk/early-support
Box 2

vary according to individual need as well as local service organization. In some areas, services are centred in a specific
Down syndrome clinic.
The Paediatrician should review the childs health and
development and identify medical problems by a combination of
history-taking, examination and screening tests directed at
problems more likely to occur in Down syndrome. Table 1,
adapted from the PCHR insertb, gives a suggested but minimal
schedule of essential health checks based on the guidelines for
essential medical surveillance developed by the Down Syndrome
Medical Interest Group (DSMIG UK and Ireland). Local more
comprehensive protocols should be developed.
The Paediatrician has a central role in coordinating the multidisciplinary team of professionals involved with the child and
family.
Others likely to be involved include:

Primary healthcare team

Specialist doctors: Cardiologist; ENT Surgeon; Ophthalmologist; etc.

Therapists: speech and language; physiotherapy; occupational therapy

Social Worker

Education: Preschool Teacher/Portage Worker; Nursery/
School Staff; Educational Psychologist

Gastrointestinal problems
Ten percent of children with Down syndrome have congenital
malformations of the gastrointestinal tract including atresia of the

Transition to adult care

This is often a difficult area. After years of regular paediatric supervision, there is no equivalent specialist service for adults.
Psychiatrists with a special interest in learning disability are primarily concerned with mental health and social adjustment, and
may not look at other healthcare needs. In some areas ongoing
care is effectively coordinated by learning disability Nurse Specialists but more often general practitioners are expected to

PAEDIATRICS AND CHILD HEALTH 24:8

a
Evidence based guidelines are available at http://www.health
forallchildren.com/wp-content/uploads/2013/04/A5-Downs-Instrucschartsfull-copy.pdf.
b
The special insert for the PCHR and the Down syndrome specific growth
charts are available from Harlow Printing, NE33 4PU, UK, http://www.
healthforallchildren.com/wp-content/uploads/2013/04/A5-Downs-Instrucschartsfull-copy.pdf.

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PAEDIATRICS AND CHILD HEALTH 24:8

Down syndrome e suggested schedule of health checks

The following are suggested ages for health checks. Review at any other time if there are parental or other concerns
Special tests under 2 yrs

Thyroid

Newborn e routine heel prick-blood

spot test

From age 1 year e thyroid function should be discussed annually using results of either e Annual TSH
finger-prick test OR 2 yearly thyroid blood tests, including thyroid antibodies
Follow algorithm for positive test. (see text)

Growth

Length and weight should be checked frequently and plotted on

Down syndrome growth charts.

Vision

Newborn routine check including congenital

cataract check

Hearing

Universal newborn hearing screen

Cardiac

By age 6 weeks e cardiac status

and action plan (see text)

Sleep related
breathing
disorders
Haematology

Preschool checks

Length and weight should be checked and plotted on Down syndrome

growth charts at least annually while growing. (BMI checked if concern
regarding overweight).
Age 4 years: Formal eye and vision
Repeat vision test every 2 years or more
examination including check for
frequently if recommended by Optometrist or
squint, Refraction and assessment
Ophthalmologist
of near and distant vision and
visual acuity

Age 18-24 months:

Formal eye and
vision examination
including check for
squint and refraction for
long or short sight
Visual behaviour to be monitored at every review particularly in first year
Full audiological review by Annual audiological review as
10 months including
before
hearing test and
impedance check
At all ages low threshold for reviewing cardiac status if signs
or symptoms develop

2 yearly audiological review e or more

frequently if recommended

From adolescence onwards as part of routine

health checks listen to heart for signs of
acquired heart disease
Enquire at every review for uneven breathing during sleep and poor quality sleep. Low threshold for further testing using sleep studies

2013 Elsevier Ltd. All rights reserved.

Newborn FBC to check for TMD

(see text)

If TMD, vigilance until age 5

Detailed recommendations for medical surveillance essentials for children with Down syndrome can be found at www.dsmig.org.uk/.
Adapted from PCHR insert for babies with Down syndrome (2011)b

Table 1

School age

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Age

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Sexual development

jejunum, duodenum, oesophagus and anus, and annular pancreas.

These may be picked up on antenatal scan, or present in the
neonatal period. Less severe forms, e.g. anal or duodenal stenosis,
have milder symptoms and may go unrecognized for some time.
Also more common are coeliac disease and Hirschprungs
disease. It is important to consider these in the differential
diagnosis of constipation, diarrhoea and poor growth. Many infants with Down syndrome have feeding difficulties. This is often
due to oral motor dysfunction, but gastro-oesophageal reflux
may also play a part. Appropriate management in infancy may
prevent eating problems later on.

Sexual development is often a major concern for parents. However it usually proceeds as for other children and with appropriate support most adolescents cope well with the demands of
puberty. 75% of girls menstruate regularly and 80% can manage
menses independently. Some boys have small genitalia and most
have reduced fertility. There are reports of women with Down
syndrome having children. About a third of these infants have
Down syndrome, 20% have significant other disabilities and
10% are stillborn. People with Down syndrome should have
access to sexual health advice, including contraception, tailored
to their individual understanding and medical conditions.

Growtha
Short stature is characteristic. Mean adult height is 146 cm (40 900 )
for females and 157 cm (50 100 ) for males. UK Down syndrome
specific growth chartsb (RCPCH/DSMIG 2011 with accompanying fact sheeta) should be used to plot growth regularly and
deviation from centiles should be investigated appropriately. Of
those falling below the 2nd centile for height or weight, some will
have significant pathology.
Intrauterine growth is similar to that for other babies until 38
weeks gestation and until this age it is appropriate to use the
neonatal infant close monitoring growth charts (NICAM). However from 38 weeks those with Down syndrome do not continue
to gain weight as quickly as unaffected babies so by 40 weeks the
shortfall is considerable. Average birth weight at 38e42 weeks is
around 3 kg. Newborns with Down syndrome may have more
significant initial weight loss than other babies and are slower to
regain birth weight. Continuing faltering growth may indicate
ongoing feeding difficulties or medical pathology.
The Down syndrome specific chartsb suggest that for older
children with Down syndrome obesity is the norm. However
these are reference charts and do not indicate a desired standard.
Obesity is not an inevitable consequence of the syndrome. A
Down syndrome BMI chart is included on UK Down Growth
Charts, to aid identification of overweight and obesity which, if
present, should be managed in the usual way.

Thyroid dysfunctiona
Thyroid dysfunction, commonly hypothyroidism, is more prevalent in people with Down syndrome at all ages. Around 10% of
the school age population have uncompensated hypothyroidism,
prevalence increasing with age. Signs and symptoms may not be
obvious or dismissed as part of the Down syndrome phenotype.
Diagnosis on clinical grounds is therefore not reliable and
biochemical screening essential. All babies in the UK are
screened for hypothyroidism. Thereafter each district should
have a policy for thyroid screening for all children with Down
syndrome, either by 2 yearly venous blood estimation of T4,
TSH, and thyroid autoantibodies or annual finger-prick dried
blood spot TSH. An algorithm to guide management of capillary
TSH screening has been produced based on experience in Scotland (see Box 3). Raised TSH capillary samples are checked with
venous bloods and most children with TSH 6e10 mU/litre only
require surveillance. Transient changes in TFTs may occur, both
before and after treatment.
Hyperthyroidism, although less common, is also more
frequently seen in Down syndrome. The Paediatrician should
have a low threshold of suspicion for thyroid dysfunction at all
times.

Algorithm for the management of children and adolescents with Down syndrome referred with TSH elevation on
capillary screening
TSH 6 mU/l and either fT4 <9 pmol/l, and/or child has symptoms

Start L-T4 treatment without delay

TSH 21mU/l

Start L-T4 treatment irrespective of clinical and fT4 status

TSH is 6 to <11 mU/l, and fT4 9e23 pmol/l, and child is symptom-free

Immediate treatment not indicated; Continue annual

screening but advise family to attend earlier if symptoms
suggestive of hypothyroidism

TSH 11e20.9 mU/l, and fT4 normal, child e symptom-free

Recommend L-T4 treatment since therapy is likely to

be required eventually.
Advise family of alternative e surveillance, with early
recourse to venous testing if the child develops symptoms

Note that TSH and fT4 values refer to venous and not capillary blood.
Adapted from Scottish Down Syndrome Thyroid Screening Group.

Box 3

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Ophthalmological problemsa

People with Down syndrome have increased susceptibility to

a variety of autoimmune conditions and it is not unusual for
combinations of hypothyroidism, coeliac disease and type 1
diabetes to affect the same child.

Ophthalmological problems, including congenital cataracts,

nystagmus, squint, glaucoma, keratoconus, blepharitis and
blocked nasolacrimal ducts, are over represented in Down syndrome. Refractive errors, including hypermetropia, occur in
approximately 70% and if uncorrected constitute a significant
cause of secondary handicap.
The possibility of ophthalmic problems should be considered
at every review, starting with a check for congenital cataracts in
the neonatal examination. After this, the Paediatrician should
monitor visual behaviour and refer concerns to an Ophthalmologist. Formal visual assessments (including refraction, fundoscopy and orthoptic testing) are recommended by age 2 and
around 4 years old.
Infant refractive errors, which often reduce spontaneously in
other children, are likely to persist. Early correction with
glasses is therefore recommended, especially as most people
with Down syndrome also have difficulty accommodating to
focus on near. Near and distance vision should always be
checked and a prescription for near correction or bifocals
considered at all ages.
Vision should continue to be checked at least every 2 years
throughout life. In older children this may be done by a high
street Optometrist.
Keratoconus, which causes corneal distortion and poor vision,
is prevalent in young adults with Down syndrome (around 15%).
Recent advances in collagen cross linkage treatment to halt
progression of this condition have highlighted the need for early
diagnosis and regular eye examinations in adolescents with
Down syndrome.

Cervical spine disordersa

At all ages people with Down syndrome are at risk for acute or
chronic neurological problems caused by cervical spine disorders. In childhood the predominant issue is craniovertebral
instability. Hypotonia and ligamentous laxity can cause excessive movement and potential subluxation at atlanto-axial and
atlanto-occipital joints. The rare but potentially catastrophic
consequences of cervical spine subluxation are well
documented.
Identifying those at risk is not straightforward. Around 30% of
individuals with Down syndrome have radiological evidence of
increased movement at the craniovertebral junction but few have
clinical symptoms. Furthermore a normal cervical spine X-ray
does not preclude subsequent development of problems. Routine
radiological screening for asymptomatic people with Down syndrome is therefore not recommended but emphasis should be on
following investigative pathways for those with symptoms. It is
essential that healthcare professionals as well as parents, relatives and carers are aware of the following warnings:

Neck pain

Abnormal head posture

Torticollis (wry neck)

Reduced neck movements

Deterioration of gait and/or frequent falls

Increasing fatigability on walking

Deterioration of manipulative skills
Anyone with any of these symptoms should be carefully
examined and good quality flexion and extension cervical spine
X-rays arranged expediently. Those with suspected cervical spine
disorder, even with normal X-rays, should be referred to a
specialist centre. Increasingly good outcomes following surgical
fusion are being reported when timely intervention is performed
in experienced centres.
Prior to general anaesthesia attention should be paid to the
above warning signs as unconscious children are vulnerable to
injury. Pre-operative radiography is not recommended in the
absence of clinical concerns.
Asymptomatic children should not be barred from sporting
activities because there is no evidence that participation in
sports increases the risk of cervical spine injury any more than
for the general population. For specialized sports, such as
trampolining, the requirements of Local Governing Bodies
should be observed (www.british-gymnastics.org e AtlantoAxial Information Pack).

Hearinga
Over 50% of children with Down syndrome have hearing loss.
This is mainly due to otitis media with effusion (OME) but some
also have sensorineural deafness. Onset of the latter is often in
teenage years, prevalence increasing with age. OME has an
earlier age of onset than in other children and often persists into
adult life. Those suspected of having OME should be managed by
a multi-disciplinary team with expertise in assessing and treating
children with Down Syndrome. There is no clear evidence for the
best treatment option. Hearing aids (behind ear or boneanchored BAHA) should normally be offered for OME and
hearing loss. They are most likely to be accepted if fitted by a
specialist paediatric service, supported by Specialist Teachers for
hearing-impaired children.
Surgery is technically difficult due to unusually tenacious glue
and narrow ear canals. Though ventilation tubes have a place in
management, their benefit is often short-lived. Otorrhoea is
common and repeat surgery often necessary.
As for all children, one of the most important factors in
managing hearing loss is recognising there is a problem. Regular
audiological surveillance throughout life is necessary, beginning
with newborn screening. Further review should take place by 10
months. This will need to be done by a specialist audiology
service as detailed assessment including otoscopy and impedance testing are needed. After this, preschool children should
have their hearing reviewed annually and older children at least
biennially.

Other orthopaedic problems

Hypotonia, ligamentous laxity and skeletal dysplasias may predispose to other orthopaedic problems, including patellar instability, scoliosis, subluxation/dislocation of the hips, pes planus
and metatarsus varus. Intervention will be necessary if there is
pain, limited function or risk of structural damage. Surgery is
sometimes indicated. Many children benefit from shoe inserts
and some need specialist footwear.

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Sleep related breathing disorders (SRBD)

this are multifactorial, but there does appear to be impaired

immune function. Children who have recurrent infection should
be investigated for underlying cause and treated accordingly.
It is important that babies with Down syndrome are offered
primary vaccinations according to the routine schedule. Those
with congenital heart disease respiratory problems or prematurity may meet criteria for RSV prophylaxis. Extra immunizations
with seasonal influenza vaccine from 6 months of age and
pneumococcal vaccine (Pneumovax II) after the 2nd birthday
should be considered. Whilst most show a normal vaccine
response, decreased response has been reported, and checking of
functional antibodies with repeat immunizations for those who
have mounted an inadequate response may be advised.
Autoimmune disorders are overrepresented in people with
Down syndrome. Type 1 diabetes and thyroid disorders have
already been mentioned. Juvenile inflammatory arthropathy
(JIA) can be particularly distressing and is known to be underdiagnosed because aspects of the Down syndrome phenotype
tend to mask some of the usual presenting clinical signs.

Children with Down syndrome are at high risk of sleep related

breathing disorders which can lead to growth retardation, poor
developmental progress, tiredness and lethargy. However these
cardinal signs may not be recognized against a background of
expected learning disability, cognitive slowness and short stature. There is also a risk of pulmonary hypertension.
The possibility of SRBD should be considered at every review.
Interpretation of a history of sleep difficulties is notoriously
difficult but diurnal symptoms of restless sleep, snoring and day
time sleepiness may be pointers, and observed sleep apnoea is
highly suggestive of a significant problem. Because normal oximetry does not exclude obstructive sleep apnoea, Paediatricians
should have a low threshold to arrange poly-somnographic sleep
studies (and some have argued for screening of all preschool
children with Down syndrome).
Many children benefit from adenotonsillectomy but may face
more peri-operative complications than other children, and may
require access to ITU. If abnormal breathing persists after surgery
a trial of mask Continuous Positive Airway Pressure (CPAP) or
night-time oxygen may be necessary.

Autistic spectrum disorders

Autistic disorders occur more often in children and teenagers
with Down syndrome than other children. This possibility must
be considered in any child who is failing to make expected
progress in communication and social skills or who shows
regression of these skills.
Some children display behaviours typical of autistic disorder
as toddlers and follow a course similar to that seen in other
children. However regression of social and communication skills
may occur in later childhood or adolescence.
Diagnosis is important because when the conditions coexist
the management, particularly education, may need to be more
specifically geared to addressing the difficulties associated with
autism.

Other respiratory disorders

Respiratory infections are the second most common cause of death
(after heart disease) in children under 19 years old with Down
syndrome, and respiratory problems the most common primary
reason for hospital admission, and prolonged stays including ITU
in young children. Contributory factors include hypotonia,
obesity, congenital cardiac and airway abnormalities, immunological dysfunction, gastro-oesophageal reflux and dysmotility.
Treatment of one factor alone is often unsuccessful so investigation and management of respiratory symptoms should cover
all relevant factors. Many children benefit from a combination of
prophylactic winter antibiotics, physiotherapy, aggressive medical management of gastro-oesophageal reflux, immunization,
and management of upper airway disease. Asthma is generally
over diagnosed in children with Down syndrome and wheeze
often has another explanation.

Conclusion
Life expectancy of people with Down syndrome has quadrupled
in the last 50 years. The average life expectancy is now around 60
years with many living well into their 60s and 70s to outlive
their parents. This increased survival is mainly thanks to
improved access to cardiac surgery and better management of
respiratory infections. It brings with it a challenge for health
professionals to optimize the health of people with Down syndrome throughout their lives.
Over the years there have been many claims involving unconventional treatments and nutritional supplements, some
aimed at improving general health, and others claiming to
ameliorate the learning disability itself. To date none of these has
been proven effective. A randomized controlled trial in the UK of
early vitamin and mineral supplements showed no benefit to
health or general development.
Meanwhile a great deal is already known about the wide
range of treatable medical problems that occur more frequently
in people with Down syndrome. The most significant benefit that
medicine has to offer is quality targeted screening and assessment specific to their needs, and to ensure they are offered the
same opportunities for medical treatment as the rest of the
population.
A

Haematological problems
Abnormalities of the full blood count (FBC) are common in
Down syndrome from the neonatal stage onwards (Box 1).
Although most changes are benign, 1e2% will develop childhood leukaemia. Neonates should have an FBC, particularly to
look for transient myeloproliferative disorder (TMD). This occurs
in about 5%, and is typically asymptomatic, resolving spontaneously by 3 months. TMD is significant as around 20% will
subsequently develop a specific form of leukaemia, myeloid
leukaemia of Down syndrome (ML-DS), before they are 5 years
old. ML-DS is a highly treatable, chemo-sensitive leukaemia with
an excellent prognosis. Babies with TMD should have repeat FBC
at 3 months to confirm resolution. A sick baby with TMD should
be referred urgently to a Paediatric Haematologist.

Immune dysfunction and immunization

Increased susceptibility to viral and bacterial infections occurs in
Down syndrome, particularly respiratory infection. Reasons for

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FURTHER READING
Cunningham C. Downs syndrome: an introduction for parents and carers.
3rd Edn. Souvenir Press, 2006.
Dennis J, Archer N, Ellis J, Marder L. Recognising heart disease in children
with Down syndrome. Arch Dis Child Educ Pract Ed 2010; 95: 98e104.
Downs Syndrome Association annual health check information for GPs
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PAEDIATRICS AND CHILD HEALTH 24:8

Watts R, Vyas H. An overview of respiratory problems in children with

Downs syndrome. Arch Dis Child 2013; 98: 812e7.

Practice points
C

C
C

Down syndrome prevalence continues to be around 1/1000

live births in UK.
Average life expectancy is now around 60 years.
Increased life expectancy is mainly due to improved access to
surgery and treatment of respiratory infections.
Individuals with Down syndrome vary greatly in personality,
ability and general health.
As a group they have increased risk of a wide range of treatable medical conditions.
Local protocols and pathways should be in place to ensure
medical problems are managed and treated, and do not prevent children reaching their potential.
Evidence based guidelines from the Down Syndrome Medical
Interest Group (DSMIG) are a helpful basis for targeted
surveillance.
There is still no evidence for unconventional treatments or
nutritional supplements.
Paediatricians play a key role in management of children with
Down syndrome at diagnosis and in coordinating care
throughout childhood.

Acknowledgements
We acknowledge with gratitude the contribution not only of
members of the UK Down Syndrome Medical Interest Group DSMIG
UK but also of the many other clinicians whose ideas and advice
have influenced the contents of this article.

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