Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome

Velo-cardio-facial syndrome (VCFS) is caused by a microdeletion in the long arm of chromosome 22 and is associated with an increased frequency of schi zophrenia and bipolar mood disorder. The purpose of this study was to inves tigate the genetic, physical, developmental and psychiatric features of sch izophrenic patients with VCFS microdeletion. It describes the clinical find ings in four schizophrenic inpatients with the characteristic chromosomal d eletion. The four patients displayed delayed motor development, language de ficits, learning disabilities, mental retardation, early age of onset, chro nic and disabling course of illness and poor response to classical neurolep tic drugs and electroconvulsive therapy. Two patients benefited from treatm ent with clozapine. We suggest that schizophrenic patients with a history o f delayed motor development, early onset of the disorder, history of learni ng disability, mental retardation, congenital cardiac anomalies and/or hype rnasal speech should be screened for the velo-cardio-facial syndrome deleti on. The implications of this study for psychiatric phenotype, nosology, dis ease mechanism, and possible new treatments in the future are discussed. (C ) 1999 Elsevier Science B.V. All rights reserved.