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Psychiatric Disorders in VCFS
Throughout Development
Doron Gothelf, Tamar Green, Bronwyn Glaser,
Martin Debbane, Stephan Eliez
Schneider Children’s Medical Center of Israel
Tel Aviv University
Department of Psychiatry, University of Geneva
School of Medicine, Switzerland
Common Psychiatric Disorders in VCFS
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schizophrenia
ADHD
Anxiety disorders
Depressive disorders
Autism spectrum disorders
Antshel et al 2006; Feinstein et al 2002; Gothelf et al 2004; Murphy et al 1999;
Vorstman et al 2006
High Variability in Reported Rates of
Psychiatric Disorders in VCFS
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Schizophrenia
Bipolar affective disorders
Major depression
Specific phobias
ADHD
Autism spectrum disorders
0% – 38%
0% - 52%
4% - 20%
4% - 61%
0% - 48%
14% - 45%
Possible Explanations for the
Variability in the Reported Rates
• Small sample size
• Variability in samples’ age:
– Children and adolescents
– Adults
– Mixed samples
• Variability in psychiatric assessment tools
• Cultural biases
Study Aim
• To assess the rate of psychiatric disorders
in VCFS from childhood to adulthood by
pulling two large samples
Subjects
n
Age
(years)
Males :
Females
Total
Tel Aviv
Geneva
172
86
86
15.9 ± 9.1 15.7 ± 9.7 16.0± 8.5
(5 – 54)
90 : 82
53 : 33
37 : 49
P
NS
0.01
Assessment
• Cognitive testing
– Wechsler Intelligence test
• Psychiatric assessment
– SCID
– K-SADS (Tel Aviv sample)
– DICA-R (Geneva sample)
Differences in the Rate of Psychiatric
Disorder between Samples
Tel Aviv
Geneva
Any DSM
Disorder
OCD
81%
65%
24%
7%
ADHD
43%
25%
Dysthimia
16%
7%
Age Stratification
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Children
Adolescents
Young adults
Adults
5 – 12 years
12 – 18 years
18 – 24 years
above 24 years
Distribution of Psychiatric
Disorders at Different Age Groups
Psychotic Disorders
Mood Disorders
Disruptive disorders
Anxiety Disorders
IQ Scores
children
100
IQ Score
90
*
*
*
*
adolescents
young adults
80
adults
*
70
60
50
40
PIQ
VIQ
FSIQ
Correlation between Age and
Cognitive Scores
VIQ
-0.39
<0.0001
PIQ
-0.27
0.001
Information
-0.33
<0.0001
Block design
-0.19
0.02
Vocabulary
-0.27
0.002
-0.17
0.08
Arithmetics
-0.30
<0.0001
Object
assembly
Picture
completion
-0.21
0.01
comprehension -0.32
<0.0001
Digit coding
-0.27
0.001
Similarities
-0.46
<0.0001
Picture
arrangement
-0.25
0.004
Digit Span
-0.25
0.009
Correlation Between Decrease in VIQ
Scores and Severity of Psychotic
Symptoms: Stanford Longitudinal Data
Gothelf et al 2005
Parent of Origin and risk for Psychosis
• 11 of 12 subjects with a psychotic disorder
had a maternal origin of the deletion
Conclusions
• The psychiatric phenotype of individuals with
VCFS vary with age.
• ADHD rates are high in childhood and are
relatively low in adulthood.
• There is a high stable rate of anxiety disorders
(40%-50%) in all age groups.
• Psychotic disorders are rare during childhood
and adolescence and significantly increase
above the age of 18 years.
• There is a peak in the rate of depressive
disorders (44%) between age 18 to 24 years.
Conclusions
• Young adulthood (18 to 24 years) is especially
vulnerable period for youngsters with VCFS due to:
– Genetic factors (e.g. decreased dosage of COMT gene)
– Difficulties in coping with the challenges of becoming
independent adults (e.g., leaving home, finding a
vocation, intimate relations).
• Psychiatric assessment and early intervention is
recommended for:
– ADHD and anxiety symptoms- childhood
– Depression and psychosis- young adulthood
The Behavioral Neurogenetics Center
 Ronnie Weinberger
 Tamar Green, M.D.
 Omer Zarchi
 Liron Saporta
 Merav Burg
 Yael Inbar
 Maayan Abraham
 Lital Steingart, M.D.
 Olga Goraly, M.D
 Elena Michaelovsky, PhD
 Miri Carmel , PhD
 Amos Frisch , PhD
 Prof. Abraham Weizman, M.D.

Grant Support
March of Dimes
NARSAD Young Investigator Award
Israel Psychobiology Institute
Stolz Foundation