Catatonia in an adolescent with velo-cardio-facial syndrome

Gianni L. Faedda, Lee E. Wachtel, Anne Marie Higgins, Robert J. Shprintzen

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome in humans and is probably the most frequent genetic cause of psychosis currently known. Many psychiatric disorders have been reported to occur in people with VCFS including, but not limited to schizophrenia, unipolar and bipolar mood disorders (with or without psychotic features), schizoaffective disorder, psychosis NOS, social phobia, generalized and separation anxiety, obsessive-compulsive disorder, autism spectrum disorder, cognitive impairment, and ADHD. This report describes the psychiatric onset and development of catatonia in an adolescent female with VCFS that was undiagnosed until 15 years of age. Catatonia may be a relatively common presentation in people with VCFS with treatment-refractory psychiatric manifestations.

Original languageEnglish (US)
Pages (from-to)2150-2153
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number9
StatePublished - Sep 1 2015


  • 22q11.2 deletion
  • Catatonia
  • Psychosis
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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