Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome

J Am Acad Child Adolesc Psychiatry. 2009 Nov;48(11):1060-1068. doi: 10.1097/CHI.0b013e3181b76683.


Objective: Velocardiofacial syndrome (VCFS) is associated with cognitive deficits and high rates of schizophrenia and other neuropsychiatric disorders. We report the data from two large cohorts of individuals with VCFS from Israel and Western Europe to characterize the neuropsychiatric phenotype from childhood to adulthood in a large sample.

Method: Individuals with VCFS (n = 172) aged 5 to 54 years were evaluated with structured clinical interviews for psychiatric disorders and age-appropriate versions of the Wechsler intelligence tests.

Results: The frequency of psychiatric disorders was high and remarkably similar between samples. Psychotic disorders and depression were uncommon during childhood but increased in rates during adulthood (depressive disorders: 40.7% in young adults [aged 18-24 years]; psychotic disorders: 32.1% in adults [age >24 years]). Cognitive scores were inversely associated with age in subjects with VCFS, including patients without psychosis. Specifically, Verbal IQ (VIQ) scores negatively correlated with age, and the subjects with VCFS and psychotic disorders had significantly lower VIQ scores than nonpsychotic VCFS subjects.

Conclusions: Neuropsychiatric deficits in individuals with VCFS seem to follow a developmental pattern. The VIQ scores are negatively associated with age and rates of mood, and psychotic disorders increase dramatically during young adulthood. The data presented here support careful monitoring of psychiatric symptoms during adolescence and young adulthood in VCFS. Prospective longitudinal studies are needed to examine the nature of age-related cognitive changes and their association with psychiatric morbidity in VCFS.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Comorbidity
  • Cross-Cultural Comparison
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / psychology
  • Female
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Intellectual Disability / psychology
  • Israel
  • Language Development Disorders / diagnosis
  • Language Development Disorders / genetics
  • Language Development Disorders / psychology
  • Male
  • Mental Disorders / diagnosis
  • Mental Disorders / genetics*
  • Mental Disorders / psychology
  • Middle Aged
  • Phenotype
  • Psychometrics
  • Psychotic Disorders / diagnosis*
  • Psychotic Disorders / genetics*
  • Psychotic Disorders / psychology
  • Schizophrenia / diagnosis*
  • Schizophrenia / genetics*
  • Schizophrenic Psychology*
  • Switzerland
  • Wechsler Scales / statistics & numerical data
  • Young Adult