Rubinstein-Taybi Syndrome:
Child Characteristics and
Parental Perception
Noorwijkerhout 06-05-2011
Ina van Berckelaer-Onnes & Josette Wulffaert
Content

Introduction of the research

Results of the RTS study

Clinical and scientific recommendations
Objective of the study:
to generate syndrome specific
knowledge valuable for clinical
practice
Acquiring knowledge about child and family characteristics
associated with specific genetic syndromes in order to
formulate recommendations for clinical practice
It all started in 2004
based on a clinical question

Raoul Hennekam (University of Amsterdam) referred a
child with Cornelia de Lange to Ina van
Berckelaer-Onnes (University of Leiden) with the
question: has this child an autism spectrum
disorder?


The answer was YES, but then another
question was raised: what can we do with
this information ?
A research question was born: from a
clinical question to a scientific study
Genetic Syndromes in Families
child characteristics and parenting stress in:
Prader-Willi
Cornelia de
Lange
CHARGE
Angelman
Rubinstein
Taybi
Rett syndrome
WolfHirschhorn
Participants (1)

Cornelia de Lange syndrome (1:10,000 -1:62,000)
N=37

Rett syndrome (1:10,000 - 2:10,000) N=52

Prader-Willi syndrome (1:8,000 – 1:52,000) N=23

Angelman syndrome ( 1:10,000 -1: 40,000) N=24
Participants (2)

CHARGE (Coloboma of the eyes, Heart defects,Atresea of the choanae,
Retardation of growth and/or development and/or nervous system
anomalies, Genital hypoplasia, Ear anomalies and/or deafness
( 1:8,500 – 1:12,500) N=22

Wolf-Hirschhorn syndrome (1:20,000 -1:50,000) N=14

Rubinstein-Taybi syndrome (± 1: 125,000) N=32
Our research is not focusing on the
syndromes themselves but on the children
with these syndromes and the parents of
these children
Research items

Behaviour: specific behaviour (related to the
syndrome)
challenging behaviour
adaptive behaviour (socialization and
communication)

Additional disorders : autism
intellectual disability
Parents: stress
child-rearing perception
Research protocol

Involvement of parents
(questionnaires and interview)

Involvement of caregivers and
teachers (quetionnaires)
Parent questionnaires (1)

VOG-O (Dutch version of the Developmental
Behavior Checklist-Primary Carer : DBC-P
Einfeld & Tonge,1996)

SCQ (Dutch version of the Social
Communication Questionnaire, Rutter et al
2002)

VISK (Dutch Questionnaire for making an
inventory of social behaviour of children,,
Luteijn,Minderaa & Jackson, 2002)
Parent Questionnaires (2)

NOSIK (Nijmeegse Parenting Stress Index –
Kort; De Brock, Vermulst, Gerris & Abidin,
1992)

Questionnaire about the parental perception of
child-rearing and the care systems (Groffen &
Van Berckelaer-Onnes)

Medical questionnaire (Hennekam)
Parents Questionnaire (3)
and interview

Vineland Screener 0-12 (Van Duin , et al 2009)

Diagnostic Interview for Social and
Communication Disorders (Wing 2003)*
*Parents are interviewed in the home situation
Caregivers and teachers
Questionnaires:
 VOG-L (Dutch version of the Developmental
Behavior Checklist-Primary Carer for
teachers/caregivers; Einfeld & Tonge,1996)

AVZ-R (Dutch Scale for Autism and related
disorders- Revised; Kraijer, 1994)

Vineland Screener 0-12 (Van Duijn et al. 2008)
Participants
Rubinstein-Taybi syndroom
▪ 46% parental response
▪ 32 subjects (13 ♂, 19 ♀)
▪ Age 4 - 50 year (mean age 19 year)
▪ Genetic mutation: 41%
25% no information about mutation
Participants
Living-situation: 66% parents home
31% (partly) residential setting
3% independent with supervision
Children (n=25): 88% parents home
12% (partly) residential setting
Adults (n=17): 40% parents home
53% (partly) residential setting
7% independent with supervision
Daily activities
Daily activities of the participants
Aantal
Special education for children with intellectual disability
(Cluster 3 education)
Day care centre for adults with intellectual disability
9 (28%)
Otherwise
10 (31%)
7 (22%)
Day care centre for children with a intellectual disability (KDC) 3 (10%)
Regular education
2 (6%)
Special education for mildly impaired children (SBO)
1 (3%)
Adaptive functioning




Communication
Socialization
Self care skills
Motor development
 Administrated by parents and
caregivers/teachers
Level of adaptive functioning
(parents)

Communication: between < 1 and 9.9 year (mean 3.8y)
Socialization:
between <1 and 8.5 year (mean 4.0 y)
Self care skills: between < 1 and 9.9 year (mean 4.8 y)

Motor development: between < 1 and 8 year (mean 4.1y)


Level of adaptive functioning
(parents and caregivers /teachers)
31 parents and 30 professionals
Total VABS score: parents: between < 1 and 9.3 y
(mean 4.0 year)
Total VABS score professionals: between < 1 and 9.3 y
(mean 3.5 year)
Level of adaptive functioning
(parents and caregivers /teachers)
70
60
50
40
ouders Parents
professionals
Caregivers/teachers
30
20
10
0
Communicatie self
Dagelijks
vrd
Socialisatie
Communication
care skills
socialization
Motoriek
motor dev.
Rate of intellectual disability
(parents)
3%
16%
lichtmild
moderate
matig
severe
ernstig
49%
profound
32%
zeer ernstig
Challenging behaviour (parents)
32 subjects
No difference in ♂/♀, with the exception that females
show more anxiety
38% alarming amount of challenging behaviour
Higher age more behaviour problems
No relation between level of intellectual functioning and
behaviour problems
co
m
hz
be
pe
rk
i
ng
en
an
gs
t
se
n
ge
ke
er
d
ge
dr
ag
tie
st
oo
rn
is
zic
so
cia
le
m
un
ica
in
st
or
en
d
Challenging behaviour (parents)
0.6
0.5
0.4
0.3
0.2
0.1
0
Autism Spectrum Disorder

8 (25%) persons without ASD

11 (34%) persons with a strong presumption of
ASD

13 (41%) persons with doubts about the ASD
(expanded diagnostics is needed)
This ASD percentage is higher than we find in the general
population of persons with an intellectual disability (26%37% ASD)
Parenting stress
(75% mothers)
Very low –below average
8 (25%)
Average
11 (34%)
Above average
1 (3%)
High
6 (19%)
Very high
6 (19%)
Parenting stress

There is no relationship between chronological
age and level of adaptive functioning

There is a relationship between the severity of
behaviour problems and the level of stress
de
G
E
illi
59%
Pr
ad
er
-W
an
46%
m
60%
La
ng
e
AR
70%
An
ge
l
Co
rn
el
ia
CH
20%
Re
tt
at
ie
40%
po
pu
l
-T
ay
bi
50%
ge
wo
ne
Ru
bi
ns
te
in
Comparison parenting stress
58%
51%
38%
30%
26%
15%
10%
0%
Parental perception of the
education
Easy: 28%
Heavy: 59%
Very heavy: 10%
No response: 3%
Perception of the care systems
45% want to have more information in an early
stage about:




Medical problems
Developmental perspective
Behavioural characteristics of children with RTS
Child rearing and education
Conclusions





Most of the participants have a moderate severe intellectual disability
RTS will not develop into challenging
behaviour
Some behaviours seem to be characteristic for
RTS, in particular for children
RTS can occur with Autism; alertness on this
co-morbidity is needed
Parenting stress is relatively high, but a great
deal of the parents do not perceive the stress as
very high
Practical and clinical
recommendations (1)

Parents need clear information about the
syndrome: what can we expect in different
aspects? Can RTS occur with other disorders
(intellectual disability, autism)?

Parents need support and advice in the
education of their child: how can we stimulate
the development, how can we cope with
behavioural problems
:
Practical and clinical
recommendations (2)

Parents need more information about care
systems, parent associations, day care centers
and school systems

A good website has to be available for all
parents and people involved

Parent Associations need to be supported by
professionals
Research recommendations




Cooperation between different research centers
is needed to enlarge the research group and
share information
Results of scientific studies have to be translated
into clinical practices
Treatment has to be focused more on the
behavioural phenotype
As regards childrearing, we need more insight in
risk and protective factors
Many thanks to

all the children and adults with RST, involved in
our study

all the parents

the Dutch RTS parent association

the researchers involved in this study
We all have the same aim:
to enhance the quality of life of
individuals with RTS and their
parents!
Thank you for your attention