High rates of schizophrenia in adults with velo-cardio-facial syndrome

Arch Gen Psychiatry. 1999 Oct;56(10):940-5. doi: 10.1001/archpsyc.56.10.940.

Abstract

Background: Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an increased frequency of schizophrenia and bipolar disorder, is associated with small interstitial deletions of chromosome 22q11.

Methods: We evaluated 50 adults with VCFS using a structured clinical interview (Schedules for Clinical Assessment in Neuropsychiatry or Psychiatric Assessment Schedule for Adults With Developmental Disability if IQ <50) to establish a DSM-IV diagnosis. The schizophrenia phenotype in individuals with VCFS and schizophrenia was compared with a matched series of individuals with schizophrenia and without VCFS (n = 12). The King's Schizotypy Questionnaire was administered to individuals with VCFS (n = 41), their first-degree relatives (n = 68), and a series of unrelated normal controls (n = 316). All individuals with VCFS deleted for the N25 probe (n = 48) were genotyped for a genetic polymorphism in the COMT gene that results in variations in enzymatic activity.

Results: Fifteen individuals with VCFS (30%) had a psychotic disorder, with 24% (n = 12) fulfilling DSM-IV criteria for schizophrenia. In addition, 6 (12%) had major depression without psychotic features. The individuals with schizophrenia had fewer negative symptoms and a relatively later age of onset compared with those with schizophrenia and without VCFS. We found no evidence that possession of the low-activity COMT allele was associated with schizophrenia in our sample of individuals with VCFS.

Conclusions: The high prevalence of schizophrenia in this group suggests that chromosome 22q11 might harbor a gene or genes relevant to the etiology of schizophrenia in the wider population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics
  • Comorbidity
  • DiGeorge Syndrome / epidemiology*
  • DiGeorge Syndrome / genetics
  • Female
  • Genotype
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / epidemiology
  • Intellectual Disability / genetics
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Prevalence
  • Psychiatric Status Rating Scales
  • Psychotic Disorders / diagnosis
  • Psychotic Disorders / epidemiology
  • Psychotic Disorders / genetics
  • Schizophrenia / diagnosis
  • Schizophrenia / epidemiology*
  • Schizophrenia / genetics
  • Schizophrenic Psychology