Velocardiofacial syndrome in childhood-onset schizophrenia

J Am Acad Child Adolesc Psychiatry. 1999 Dec;38(12):1536-43. doi: 10.1097/00004583-199912000-00015.


Objectives: Deletion of chromosome 22q11 (velocardiofacial syndrome) is associated with early neurodevelopmental abnormalities and with schizophrenia in adults. The rate of 22q11 deletions was examined in a series of patients with childhood-onset schizophrenia (COS), in whom early premorbid developmental and cognitive impairments are more pronounced than in adult-onset cases.

Method: Through extensive recruiting and screening, a cohort of 47 patients was enrolled in a comprehensive study of very-early-onset schizophrenia. All were tested with fluorescence in situ hybridization for deletions on chromosome 22q11.

Results: Three (6.4%) of 47 patients were found to have a 22q11 deletion. All 3 COS patients with 22q11 deletions had premorbid impairments of language, motor, and social development, although their physical characteristics varied. Brain magnetic resonance imaging revealed increased midbody corpus callosum area and ventricular volume in relation both to healthy controls and to other COS patients.

Conclusions: The rate of 22q11 deletions in COS is higher than in the general population (0.025%, p < .001) and may be higher than reported for adult-onset schizophrenia (2.0%, p = .09). These results suggest that 22q11 deletions may be associated with an earlier age of onset of schizophrenia, possibly mediated by a more salient neurodevelopmental disruption.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Brain / abnormalities*
  • Brief Psychiatric Rating Scale
  • Chromosome Aberrations / genetics
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, Pair 22 / genetics
  • Developmental Disabilities / complications
  • Developmental Disabilities / diagnosis
  • Face / abnormalities*
  • Female
  • Heart Diseases / complications*
  • Heart Diseases / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Magnetic Resonance Imaging
  • Male
  • Schizophrenia, Childhood / complications*
  • Schizophrenia, Childhood / diagnosis
  • Schizophrenia, Childhood / genetics*
  • Syndrome
  • Velopharyngeal Insufficiency / complications*
  • Velopharyngeal Insufficiency / genetics*