Vorstman JAS

Postdoc, MD
Section Genetic basis of developmental disorders
Department of Psychiatry

email j.a.s.vorstman@umcutrecht.nl
tel +31-88 75 57112

Project
Psychopathology in patients with the 22q11deletion syndrome

Supervisors
R.S.Kahn, H.Van Engeland

Research area
Child & adolescent psychiatry; behavioral phenotypes, genetics, functional brain imaging.

Summary
The 22q11 deletion syndrome is a congenital malformation syndrome with a estimated prevalence of 1/4,000 births making it the second most common genetic syndrome after Down syndrome. Characteristic physical manifestations include typical facial appearance, cleft palate and heart defects, however there is consistent variability. More recently behavioral features, including psychiatric symptoms, are being identified. Little is known about this behavioral phenotype of patients with the 22q11 deletion syndrome and its development over time. To date, studies in patients with the 22q11 deletion syndrome found a highly increased prevalence of psychiatric disorders.

In adolescence psychotic disorders, including schizophrenia, seem to prevail. Whereas in childhood autistic behavior is frequently described. Deficits in other symptom domains (i.e. anxiety, impulsiveness, affect regulation) are mentioned as well. This prospective study will investigate the psychiatric, (neuro)psychological and psychophysiological profile of children and adolescents (age 6-18 years) with the 22q11 deletion syndrome.

Besides psychiatric and psychological assessment, functional brain imaging will be undertaken to study specifically language tasks since the prevalence of delayed language development is particularly high in this group. Finally an attempt will be made to study the exact nature of the deletion in each patient on the gene level in order to identify possible correlation with the results of the above mentioned assessments (i.e. psychopathological symptom domains, neuro-psychological traits or deficits, f-MRI findings).

The exact design of the study is still in progress. In general terms it will encompass baseline psychiatric and neuropsychological assessment of patients aged 10 to 14 years and follow-up assessment after 2-3 years. Psychophysiological study (pre-pulse inhibition and smooth pursuit eye movements ), genetic study and f-MRI are going to be done one time in each participating patient.

Inclusion criteria

• 22q11 deletion. Age 10-14 years.

Exclusion criteria

• None

In co-operation with F. Beemer, M.D., Ph.D., Clinical Genetics Wilhelmina pediatric Hospital Utrecht, and Mw. J. Heineman Ph.D., Psychologist, Wilhelmina pediatric Hospital , Utrecht.