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DOWN’S SYNDROME AND THE FAMILY:

FOLLOW-UP OF CHILDREN FIRST SEEN IN


INFANCY
Ann Gath
Dianne Gumley

The immediate impact of the birth of a position in a family in similar socio-


child with a severe handicap is traumatic economic circumstances. Both groups of
for the parents (Solnit and Stark 1961, babies and their families had been seen at
Drotar et al. 1975, Gath 1978). Some least five times during the first two years of
families also have had little support during life (Gath 1978).
the early years, and when interviewed years Although the initial reactions of the
later felt that they had been driven to seek parents of the Down’s syndrome babies
residential placement for their child were profound grief and shock, neither
because more appropriate help was not physical ill-health nor psychiatric problems
available when they needed it (Oster and occurred significantly more frequently
van der Tempe1 1975). The recent among these parents than among the
m emphasis on community care makes the parents in the control group. However,
z assumption that a handicapped child has there was an important difference between
0
s: the need, and indeed right, to live as part of the groups in the quality of the marriages.
\d
N
a family. I n more recent studies, such as I n the Down’s syndrome group, three
P”
m
that of Carr and Hewett (1982), the marriages had broken irretrievably in the
0‘ families have felt more supported and two years following the birth of the
fewer have had to ask that the child be affected child, and in six others there were
taken away from home. As well, those major quarrels, open hostility or marked
children who did require substitute care lack of interest in each other. There were
were placed in foster or children’s homes neither broken marriages nor severe
rather than admitted automatically t o a discordance among the parents in the
long-term specialist hospital. Carr and control group.
Hewett concluded that most families had The brothers and sisters of the very
learnt to cope with rearing a handicapped young children with Down’s syndrome did
child and that many had derived joy from not show the increased incidence of
the task. behaviour disorders reported in siblings of
The present study is a follow-up of a older children with Down’s syndrome
group of 30 families into which a baby with (Gath 1974). Although all were behind the
Down’s syndrome had been born eight to normal children in developmental mile-
nine years before. Each of these babies had stones at the age of two, the Down’s
been matched with another baby as close syndrome children did not present major
500 as possible in age and in the same ordinal problems of management.
m
The study reported in the present paper was no significant difference between the s
aimed first at measuring the degree of sexes in mortality during early childhood.
handicap in terms of intelligence quotient, All the control children corresponding to $
a-
self-help and general living skills. Second, the survivors were traced and the families r4
it sought t o identify factors in infancy were interviewed. $
which might predict the extent of the KARYOTYPES. All the children who 0‘
handicap t o the child and the family. survived to the time of follow-up were 6
2
Third, using the same measures for both characteristic trisomy 21. Two with
groups, the behaviour of the children with mosaicism and one with translocation in 2.
2
Down’s syndrome was compared with that the original group had died before the age
of the matched normal control children.
2
c
of eight. c,
Finally, the long-term effects on other PRESENT PLACEMENT. No child had been a
members of the family of rearing a child taken into full-time residential care away 9,
.z
with Down’s syndrome were evaluated by
comparison with the families of the normal
from the family. Three boys were away
from home during the school term. Two
p2
children. girls went to ordinary primary schools and
the rest went t o special ESN(S)* schools.
-
.c

Method INTERVENTION. ,411 the children had


$
Thirty children with Down’s syndrome been t o playgroups or to a nursery class but 3
a
born in a two-year period in one Health none had been in any planned intervention 4
Region in England were enrolled in the programme in the preschool period.
original prospective study. The survivors PHYSICAL HEALTH. Physical handicap
were traced six years after completion of was a severe additional burden on three
the first two-year period of the study. The families. Two of these children were
parents were interviewed at home, using a severely incapacitated by congenital heart
semi-structured interview recorded on disease and one boy was blind because of
tape, which was coded later by an cataracts. Three other children had mild
independent assessor. The Rutter scales for dyspnoea or were occasionally cyanotic
parents and teachers (Rutter et al. 1970) but were not handicapped t o the degree
were used for the Down’s syndrome that their parents were constantly fearful
children, the controls, and the sibling next about their health.
in age t o each. The interview with parents INTELLECTUAL LEVEL. The mean age at
and teachers used the American Association which the children were assessed by the
for Mental Deficiency (AAMD) Adaptive psychologist was 8 years 4 months, with a
Behavior Scales (Nihira et al. 1974) to range from 8 years to 9 years 4 months.
assess the level of the handicapped child’s Table I1 shows the results for the Down’s
functioning in a number of areas, including syndrome children, using the Stanford-
language, self-help skills, mobility and Binet or the Merrill-Palmer tests of
independence. Adaptive behaviour can be intelligence. The mean IQ was 48 and the
defined as standards of personal in- range was wide, from less than 20 to 80. In
dependence and social responsibility, and Table I1 the results are grouped in the
is a good measure of the degree of handicap classification under axis 3 of ICD 9 (Rutter
and of the extra burden placed on the et al. 1975). The variation in intellectual
family. The Down’s syndrome children levels was such that no one test was
were assessed by a clinical psychologist. suitable for all the children in the group.
The A A M D Adaptive Behavior Scales were Girls were less severely retarded than
not used for the control children. boys ( x 2 7.79, 2 D F , p<O.O5). The results
of intelligence testing at eight and nine
Results years correlated positively with birth-
Down’s syndrome children weight (Spearman rank coefficient =O. 56)
SURVIVAL. 22 survivors of the original (Fig. I), and was also related t o the degree
group of 30 were seen at follow-up (eight of hypotonia recorded in the first few
girls, 14 boys) (Table I). One other child months of life (Table 111). Severe perinatal
had moved with his family to New
Zealand, where it was possible to obtain a *Educational classification: ‘educationally sub-
recorded interview with his mother. There normal (severe)’. 501
TABLE I
Follow-up of 30 children with Down's syndrome born
1970-1971
'1 a
Died during first two years of life 5 a
Congenital heart disease 4 a a .
a
Acute leukaemia 1 0 a
Died after age two, before follow-up 2 a
Bronchopneumonia 1
55 ,
Meningococcal meningitis
Emigrated to New Zealand; taped interview only
1
1 5.-
L 3 1
Children traced and seen in 1979

Total
22

30 '1
0 JI
0
I
20
I
40
I
60
1
80
IQ's at 8 to 9 years
Fig. I . Birthneighis of Down's q n d r o m e children
and IQsat eight to nine years.

TABLE I 1
IQs of 22 Down's syndrome children 801
a
No.
Code* Intellectual level Bo-vs Girls Total
a .
0 Normal variation - 2 2
IQ > 70 a
1 Mild retardation 4 4 8
IQ 50-70
2 Moderate retardation 5 2 7 30
IQ 35-49
3 Severe retardation 3 - 3
IQ 20-34
10
4 Profound retardation 2 - 2 110 130 150 170
IQ<20
AAMD A d a p t i v e Behavior Scale score
Total 14 8 22 Fig. 2. Adaptive hehaviour .scores and IQr of I h w i r
svndrome children.
*ICD 9.

TABLE 111
'1
4 a

Degree of retardation in relation to hypotonia recorded


in first year of life

Degree of hypotonia
Normal/ Moderate/
mild severe Total
~~ ~~ ~ ~~

Intellectual level
NormaVmild
retardation 7 3 10 110 130 150 170
Moderate retardation 2 5 7
AAMD
Severe/profound
retardation - 5 5 A d a p t i v e Behavior
Scale score
Total 9 13 22 Fig. 3. Adaptive behaviour .scores and hirthw,eight.s
502 of Down's syndrome childrrn.
problems were not a reliable predictor of TABLE IV
outcome in mid-childhood. In this small Adaptive Behavior Scale scores and birthweight
group, no relationship was found between
Birthweight a-
IQ scores and social class, educational 2 2 . 5 k g ~ 2 . 5 k g Total N

achievements of the parents, age of the


parents or quality of the parents’ marriage, Adaptive behaviour score
either at the time of follow-up or in >I10 I5 1 16
infancy. GI10 1 5 6
Total 16 6 22
SPEECH. Five boys with Down’s syn-
drome were unable to speak: two were
profoundly handicapped but three were
only moderately handicapped in com- d
prehension of spoken language, non- TABLE V
Parents’ ratings of Down’s syndrome and control
verbal tests and self-help skills. One had children*
just begun to communicate using Makaton
sign-language. Four other boys had only a Down’s syndrome Conrrols
(N = 23) ( N = 23)
very limited vocabulary or were difficult to
understand. In contrast, all the girls had Number rated deviant
some skills in verbal communication. Boys (score 13 or more) 7 (30%) 5(22%)
therefore were much more likely than girls Mean score 10.6 8.8
to have severe language difficulty ( x 26.25,
1 D F , p<o.O5). *A2 Behavioural Rating Scale.
ADAPTIVE BEHAVIOUR. For the purposes
of this study the total raw scores of the
Adaptive Behavior Scales were used. The degree of dependency, poor communication
questions are grouped according to skills and a very limited repertoire of
categories such as independent functioning, behaviour.
physical development, responsibility and
language development. Norms for each Comparison with control children
category have been developed for children All the control children went to day-
in two broad bands of ability: EMR schools catering for children with normal
(educable mentally retarded) and ‘I‘MR intelligence. None had serious health
(trainable mentally retarded), corre- problems. One child had received a head
sponding t o ESN(M) and ESN(S) British injury in her second year and was mildly
schools. incapacitated by slight residual spasticity
In this cohort of Down’s syndrome on one side, but she took part in all school
children the Adaptive Behavior total activities and her IQ was in the superior
scores correlated with the results of range.
intelligence testing (Spearman rank co- BEHAVIOUR A T HOME. Slightly more
efficient = 0 . 4 7 ) (Fig. 2), and with birth- children with Down’s syndrome had high
weight (Table IV). One deviant from the scores of 13 or more on the A2 Behavioural
general trend of good adaptive behaviour Rating Scale completed by their parents,
but low birthweight can be seen in Figure and their mean score was higher (Table V).
3. He had a very low birthweight, but On part 2 of the scale, measuring deviant
because of severe family difficulties he was or maladaptive behaviour, two Down’s
fostered by his teacher on a part-time basis, children had very high scores and six
spending holidays and weekends at home. others had moderate scores. Three of these
The children with the highest scores still were false negatives on the A2 scale. It
were less able than normal children t o look became clear that the A2 scale, standardised
after themselves. All scored below the for children in the normal range of
scores of children in the average range of intelligence, did not cover much of the
intelligence from a child psychiatric clinic behaviour that parents in the Down’s
population, all of whom had achieved group were most concerned about.
scores above 190. The lowest scorers in the Examples were wandering away, un-
Down’s syndrome group had a very high dressing in public, turning taps on or 503
3 T A B L E VI blocking the lavatory with toilet paper.
33 Teachers’ ratings of Down’s syndrome and control
children.
Both the A2 a n d B2 behavioural scales also
included deviant behaviour of which a
Down’s syndrome Controls child with Down’s syndrome was rarely
(N=22f) (N-23) capable, such as playing truant. The two
most severely handicapped boys with IQ
Number rated deviant scores of less than 20 had high scores on the
C (score 9 o r more) 5 (23%) 7(32%)
p:
A2 scale and much maladaptive behaviour.
Mean score 6.3 5.3 BEHAVIOUR A T S C H O O L . The mothers of
-x
.-
E
~~

three control children reported that their


2 *Rutter 82 Scales.
children had major problems a t school,
0 tTeacher did not complete scale for one boy.
5 and five reported minor difficulties. I n
U
C most cases the children had a combination
m
of learning a n d behaviour problems. There
was n o significant difference in the
numbers of children given high scores by
the teachers on the Rutter Behavioural
Scale (Table VI). Again, as at home, some
behaviour which was a nuisance at school
TABLE VII was not mentioned on this scale. Teachers
Mental health of parents of Down’s syndrome and of the Down’s syndrome children in
control children general were very positive in their attitude
Psychiatric disorder Down’s syndrome Controls
to the children, with the exception of a
teacher in a village school who resented
Mothers having such a child in her class. Teachers’
No. ratings of the general level of functioning
Serious of the Down’s syndrome children on the
Minor
N o problems Adaptive Behavior Scales correlated well
Fathers with those of the parents.
NO. 23 23 Over-all, in the Down’s syndrome group
Serious 1 1 eight boys and three girls had behaviour
Minor 5 0
N o problems 17 22 problems, as shown by deviant scores on
behavioural rating scales or much mal-
*One mother had died a n d another was divorced, did adaptive behaviour. Seven of these eight
not have custody of the child a n d was not interviewed. boys had no or very limited language skills
and many behaviour problems. Nine
children in the control group (two girls,
seven boys) had deviant scores o n one or
both of the scales.

Comparison of families
The interviews with the families revealed
few differences in the family lives of the
TABLE VIIl two groups of children, despite the greater
Behaviour disturbance among Down’s syndrome demands on parenting by the more
children in relation to parents’ poor marriages and/or
psychiatric problems dependent Down’s syndrome children.
There were no differences between the two
Down’s Parental discord or groups of families in the extent of their
syndrome psychiatric ill-healrh social activities. There were n o more
child Yes No Toral
problems with physical health among
Behaviour problems 9 2 I1
members of the Down’s group of families
than among the control families.
No behaviour
problems 2 10 12 PARENTS’ M E N T A L STATE. The same
amount of serious psychiatric illness
Total I1 12 23 occurred in both groups of parents, but
504 minor psychiatric illness was more
common among the parents in the Down’s 127 n
syndrome group (Table VII).
QUALITY OF PARENTS’ MARRIAGE.
There had been no deaths and no further Q-
N

divorces among the parents of the Down’s d


m
syndrome children. In the control group 0‘
one mother had died suddenly a n d one
marriage had ended in divorce. The
differences in the ratings of the quality of
the marriages in the two groups were not Good Moderate Poor Died
significant (Fig. 4).
Behaviour problems among the children Down’s p a r e n t s d
with Down’s syndrome were related to
poor marital relationships o r to psychiatric Control parents o
ill-health of the parents (Table VIII). Eight Fig. 4. Marriage ratings for parents of Down’s
siblings of Down’s syndrome children and syndrome and control children at eight to nine years.
four siblings in the control families had
deviant scores on one o r both of the scales
(Table IX), and behaviour problems in a
sibling were related to behaviour problems
in the handicapped child (Table X). A
smaller but similar trend was seen in the
control families. TABLE IX
Behavioural Rating Scale scores of siblings of Down’s
Discussion syndrome and control children
As in the longitudinal study of Oster and
van der Tempe1 (1975), most deaths in the Siblings
Down’s syndrome Controls
Down’s syndrome group had occurred in ( N - 19) ( N : 20)
early childhood, before the age of four.
However, the severity of physical symptoms A2 (parents’)
in infancy was not a reliable indicator of No. deviant, score 13
or more 6 (32%) 4(20%)
which children would have serious Mean score 8.4 8.3
additional handicaps in middle childhood. B2 (teachers’)
There was wide variation in the results of No. deviant, score 9
psychological testing of the Down’s or more 5 (26%) 2(10%)
Mean score 4.6 4.2
syndrome children at follow-up, from
profound mental retardation to the dull-
normal range. The mean IQ of 48 is higher
than has been found in other studies of
children with Down’s syndrome brought
up at home (Cornwell a n d Birch 1969, Carr
and Hewett 1982). However, the children
in our study were slightly younger than ii
the other two studies, and decreasing IQ TABLE X
with age has been noted in several studies Behaviour problems in Down’s syndrome children and
in sibline next in aee
(e.g. Gibson 1978). The numbers in the
present study are small, but no significant .~ibllngS .siblingS
correlation was found between IQ and with with no
social class o r either parent’s educational Children with behaviour behaviour
Down’s syndrome problems problems Tolal
level. The two factors that could predict
outcome to some degree were birthweight Behaviour problems 6 2 8
and muscle tone recorded in infancy. No behaviour problems 2 9 I1
Penrose and Smith (1966) suggested that
hypotonia and poor head-control were Total 8 I1 19’
good predictive factors.
The A A M D Adaptive Behavior Scales *No sibling within three years of age in four families. 505
showed a very wide range, from almost found in many studies of psychiatric
complete dependency t o a level of disorder in children with normal in-
functioning barely distinguishable from telligence, both the normal and the
that of a normal child. Where the two retarded children in the family may have
measures of IQ and adaptive behaviour been reacting to the same intra-familial
score were markedly out of step, there were stress. The number of children was too
unusual features in the child or in the small for detailed analysis of possible
family background. aetiological factors, but the interview data
Parents were most concerned about provided evidence of stress in the families
being able to communicate with their of nine of the retarded children with
child, and they echoed the comments of behaviour problems. However, there was
parents in the Oster and van der Tempe1 n o evidence t o indicate that the normal
study 20 years earlier, who said that their siblings had any greater incidence of
behaviour disorders than the siblings of
:
e
children’s communication problems were
greater than they should have been because normal children of the same age as the
U
proper treatment or guidance had not been Down’s syndrome children.
x Marital problems have been noted as a n
rA given. The association between difficulty
VI
C in communication and behaviourproblems early effect of the birth of a n abnormal
i:
a among the boys underlines the importance child (Gath 1978). Increased psychiatric
of teaching language skills. morbidity is a later effect, found in this
follow-up study eight years after the birth.
The cohort of children on this study There are n o clear-cut associations
were born at a time when there were major between outcome for the child with
changes in attitudes toward and services Down’s syndrome as measured by IQ,
for the mentally retarded. However, more adaptive behaviour score or general health
recent advances, particularly concerning and outcome for the family in terms of
active early intervention, were not health, psychiatric status and relationships.
generally available when these children There is no indication, therefore, that the
were small. severity of the child’s handicap is directly
Although few differences were found related to the severity of the family
when the behaviour of the Down’s reaction.
syndrome children was compared with There was a wealth of information about
that of the controls by means of family functioning in the recorded
standardised questionnaires, it was clear interviews with the families. As Carr and
that both parents and teachers found that Hewett (1982) also found, there was
retarded children could produce a rep- evidence of fun a n d of enjoyable family
ertoire of difficult behaviour rarely found life. These positive features are hard to
in children whose intelligence was within quantify, but some attempt was made
the normal range. We found that measures when rating the relationship between the
of deviant behaviour available at present parents. Warm, affectionate remarks and
were inadequate for this sample of family jokes were heard as often on the
retarded children. As Corbett (1977) also tapes from the Down’s syndrome families
found, their behaviour disorders were as they were from the control families.
difficult to classify using criteria developed
for children of normal intelligence. More Conclusions
than half the Down’s syndrome children Biological factors appear to be powerful
had a number of behaviour problems, and predictors of later development of babies
the sibling next in age was more likely to with Down’s syndrome. The outcome,
have deviant behaviour if the retarded however, is so varied in terms of measured
child had behaviour problems. The intelligence that any prognosis for future
explanation for the latter finding could be development of these babies should be
that the difficult handicapped child had a made with caution.
direct adverse effect on the sibling. Difficult behaviour is a common
However, as the behaviour problems of the problem among retarded children, and
retarded children were related to parental needs further investigation so that
506 discord or psychiatric illness, as has been recommendations can be made about
treatment or prevention. There are Acknowledgements 00

This work was supported by a grant from the Medical 2:


indications from the small numbers in this
study that behaviour disorders in retarded
Research Council, which is gratefully acknowledged.
W e thank Kath Blow a n d Terry Lewis, the research
assistants who worked with us on the project, a n d
8
children have similar aetiological factors
B o b Edgerton, Administrator a t Borocourt Hospital,
to those in children in the average range of Reading. We are much indebted to Andrew Clarke,
intelligence, particularly discord and formerly psychologist at the Institute of Family
psychiatric illness in the parents. Psychiatry, Ipswich, who wrote the programme for
the microcomputer o n which our d a t a were stored
The findings of this follow-up study of a n d analysed.
Down’s syndrome children now halfway A u rhors’ Appoinrmen i s
through their childhood indicate that the *Ann Gath, Consultant Child Psychiatrist, Drum-
mond Clinic, West Suffolk Hospital, Bury St.
priorities lie in helping parents with the Edmunds, Suffolk IP33 3PP.
emotional repercussions, in teaching Formerly Consultant Child Psychiatrist, Borocourt d
communication skills and in the better Hospital, Reading.
Dianne Gumley, Formerly Senior Clinical Research
understanding and effective treatment of Psychologist, Borocourt Hospital, Reading.
difficult behaviour. *Correspondence 10 /ir.sr author.

SUMMARY
Twenty-three survivors of a prospective study of infants with Down’s syndrome were followed u p a t eight or
nine years of age. All but three lived at home, a n d those three came home for weekends or school holidays.
IQs varied from less than 20 t o 80 (mean 48). IQ and adaptive behaviour scores were related to birthweight
a n d muscle tone in infancy. Difficult behaviour was common, but differed from that of normal children.
More of the parents had minor degrees of psychiatric disability than parents in the control families. Marital
problems arising in the earlier years of the child’s life persisted, but without further deterioration. The
findings indicate that the priorities for these families are to help the parents deal with emotional
repercussions, to teach communication skills to the child, a n d to diagnose a n d treat difficult behaviour.

RESIJME
Mongolisme er famille: suivi d’enfanrs vus pour la premiere Jois duranr la perire enfance
Vingt trois survivants d’une ktude prospective de nourrissons mongoliens ont ktk suivis jusqu’a I’lge de huit
ou neuf ans. Tous sauf trois vivaient a u domicile de leur parents, et ces trois enfants rentraient a la maison
pour les weekends et les vacances scolaires. Les QI variaient d e moins de 20 a 80 (moyenne 48). Le QI et les
scores d e Comportement Adaptatif ktaient relifs a u poids de naissance et a la tonicitk musculaire d e la petite
enfance. Ixs difficultis de comportement itaient habituelles mais diffkrentes d e celles observkes chez les
enfants normaux. Plus de parents que dans les familles contrbles prksentaient des signes m o d e r i s d’altkrations
psychiatriques. Les probltmes conjugaux survenus dans les premitres annkes d e I’enfant persistaient mais
sans dktkrioration supplkmentaire. Ces donnkes indiquent q u e les prioritks pour ces familles sont d’aider les
parents a confronter les rkpercussions kmotives, enseigner la communication B confronter les repercussions
kmotives, enseigner la communication B I’enfant, diagnostiquer et traiter les difficultks de comportement.

ZIJSAMMENFASSl!NG
Down Syndrom und Familie: Konrrolluntersuchung von Kindern, die im Sauglingsalrer zum erslen Ma1 unrersuchr
wurden
23 Uberlebende einer prospektiven Studie von Kindern mit Down Syndrom wurden im Alter von acht oder
neun Jahren kontrolliert. Alle. auper drei Kindern, lebten zu [lause und diese drei kamen a n Wochenenden
und in den Schulferien nach Hause. Der IQ schwankte von weniger als 20 bis 80 (im Mitlel 48). IQ und
Scores fur adaptives Verhalten wurden zum Geburtsgewicht und zum Muskeltonus im Neugeborenenalter in
Bcziehung gesetzt. Schwieriges Verhalten war die Regel, aber es unterschied sich von dem normaler Kinder.
Die Eltern hatten haufiger geringgradige psychiatrische StBrungen als die Eltern der Kontrollgruppe.
Eheproblcme. die in den ersten Lebensjahren des Kindes aufgetreten waren, blieben bestehen, o h n e sich
weiter zu verschlimmern. Die Befunde zeigen, d a p es das Wichtigste ist, den Eltern zu helfen, mit
emotionalen Ruckschlagen fertig zu werden, den Kindern Kommunikationsfahigkeiten zu vermitteln und
schwieriges Verhalten zu diagnostizieren und zu behandeln.

RESUMEN
Shdrome de Donn y la familia: seguimienro de niKos vistos por primera vez en la Ppoca de lacranfes
Veintidbs supervivientes d e u n estudio prospectivo de lactantes con sindrome d e Down fueron seguidos hasta
la edad d e ocho o nueve aiios. l’odos except0 tres, Vivian en la ciudad, y estos tres regresaban a casa 10s fines
de semana o en las vacaciones escolares. El CI variaba entre menos de 20 a 80 (promedio de 48). El C I y 10s
puntajes del comportamiento adaptivo estaban en relacibn con el peso del cuerpo y el t o n o muscular en la
kpoca d e lactante. Era corriente u n comportamiento dificil, pero era diferente del d e nifios normales. L a
mayoria de 10s padres tenian grados menores de alteraci6n psiquiatrica, q u e 10s padres d e las familias
control. Persistian 10s problemas maritales surgidos en 10s primeros afios de la vida del nirlo, pero sin
deterioracicin posteior. Los hallazgos indican q u e las prioridades para estas familias radican en ayudar a 10s
padres para enfrontarse con las repercusiones emocionales, enseiiar habilidad comunicativa a1 nirio y
diagnosticar y tratar las dificultades en el comportamiento. 50 7
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