The schizophrenia phenotype in 22q11 deletion syndrome

Am J Psychiatry. 2003 Sep;160(9):1580-6. doi: 10.1176/appi.ajp.160.9.1580.


Objective: This study investigated the schizophrenia phenotype in 24 subjects with 22q11 deletion syndrome (22qDS) and schizophrenia (22qDS-schizophrenia), a rare but relatively homogenous genetic subtype of schizophrenia associated with a microdeletion on chromosome 22. Individuals with 22qDS are at genetically high risk for schizophrenia.

Method: Standard measures of signs, symptoms, and course of schizophrenia were assessed in 16 adults with 22qDS-schizophrenia who did not meet criteria for mental retardation and in 46 adults with schizophrenia without evidence of 22qDS from a community familial sample.

Results: There were no significant differences in age at onset, lifetime or cross-sectional core positive and negative schizophrenic symptoms, or global functioning between the two groups of patients with schizophrenia. Patients with 22qDS-schizophrenia had higher excitement subscale scores and less lifetime substance use than the comparison patients with schizophrenia, but no significant differences in anxiety-depression symptom severity were found between the groups.

Conclusions: These findings indicate that the core clinical schizophrenia phenotype would not distinguish individuals with a 22qDS subtype from those with schizophrenia who did not have the 22qDS subtype. The results provide further support for the utility of 22qDS-schizophrenia as a neurodevelopmental model of schizophrenia as well as support for prospective studies of individuals with 22qDS to help identify precursors of schizophrenia.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Anxiety Disorders / diagnosis
  • Chromosomes, Human, Pair 22 / genetics*
  • Comorbidity
  • Depressive Disorder / diagnosis
  • Diagnosis, Differential
  • Female
  • Gene Deletion*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • Psychiatric Status Rating Scales
  • Schizophrenia / diagnosis
  • Schizophrenia / epidemiology
  • Schizophrenia / genetics*
  • Schizophrenic Psychology
  • Severity of Illness Index
  • Substance-Related Disorders / diagnosis
  • Substance-Related Disorders / epidemiology