Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion

Angela Sagar, Jeffrey R. Bishop, D. Clare Tessman, Steve Guter, Christa L. Martin, Edwin H. Cook

Research output: Contribution to journalArticlepeer-review

39 Scopus citations

Abstract

Some copy number variants (CNVs) are strongly implicated in both schizophrenia and autism spectrum disorders (ASDs). Childhood-onset schizophrenia (COS) occurs rarely with 0.1-1% of all schizophrenia diagnoses manifesting before age 10. 3q29 deletions are associated with both autism and schizophrenia, and are rare-the frequency of the deletion estimated to be 1 in 1,750 in developmental disorders. Only one patient with a 3q29 deletion was identified out of the first 1,174 families with ASDs included in the Simons Simplex Collection (SSC). We report on detailed clinical findings for this patient with a de novo 3q29 deletion who, as a young child, developed a very rare overlap of symptoms of both autism and early onset psychosis. His ASD was first diagnosed at the age of 4 years and his psychotic symptoms began at 5 years old. This is only the second case reported thus far of this rare event of co-occurring autism and very early onset psychosis in a child with a 3q29 deletion. It is also the earliest case of a child with autism developing comorbid psychosis-manifesting by the age of 5 years.

Original languageEnglish (US)
Pages (from-to)845-849
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number4
DOIs
StatePublished - Apr 2013

Keywords

  • 3q29
  • Autism
  • DLG1
  • Intellectual disability
  • PAK2
  • Psychosis

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