The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.
OBJECTIVE
To examine psychopathology and influence of intelligence level on psychiatric symptoms in children with the 22q11.2 deletion syndrome (22q11DS).


METHODS
Sixty patients, ages 9 through 18 years, were evaluated. Assessments followed standard protocols, including structured and semistructured interviews of parents, videotaped psychiatric interview, and intelligence assessment of the child. Intelligence level, psychiatric symptoms, and classification provided the main outcome.


RESULTS
High rates of autism spectrum disorders (30 of 60, 50.0%) and psychotic symptoms (16 of 60, 26.7%) were found in this sample. In 7 of 60 (11.7%), the psychotic symptoms interfered with behavior and caused considerable distress. In these cases, the diagnosis of a psychotic disorder was applied. The average age of the children with psychotic symptoms at time of assessment was 14.2 years. Although it is likely that the high rate of psychopathology in this sample is to some extent associated with the lower level of cognitive function, a major effect of the degree of cognitive impairment on psychiatric morbidity was not found.


CONCLUSIONS
Autism spectrum disorders and subthreshold autistic symptomatology are common in children with 22q11DS. Furthermore, a high rate of psychosis and psychotic symptoms is found in this childhood sample, suggesting an early onset of psychosis in 22q11DS patients. Autistic and psychotic disorders should be considered to be main elements of the behavioral phenotype of 22q11DS children.
Vorstman
Jacob A S
JAS
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands. Electronic address: J.A.S.Vorstman@umcutrecht.nl.
Morcus
Monique E J
MEJ
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
Duijff
Sasja N
SN
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
Klaassen
Petra W J
PWJ
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
Heineman-de Boer
Josien A
JA
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
Beemer
Frits A
FA
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
Swaab
Hanna
H
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
Kahn
René S
RS
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
van Engeland
Herman
H
Drs. Vorstman, Swaab, and van Engeland and Ms. Morcus are with the Department of Child and Adolescent Psychiatry; Dr. Heineman-de Boer, Ms. Duijff, and Ms. Klaassen are with the Department of Pediatric Psychology; Dr. Beemer is with the Department of Medical Genetics; Dr. Kahn is with the Department of Psychiatry, University Medical Centre, Utrecht, The Netherlands. Drs. Vorstman, Swaab, Kahn, and van Engeland and Ms. Morcus are also with the Rudolf Magnus Institute of Neurosciences, Utrecht, The Netherlands.
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D015995:Prevalence; D011618:Psychotic Disorders / Q000175:diagnosis / Q000453:epidemiology* / Q000523:psychology