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Co‐occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion
Author(s) -
Sagar Angela,
Bishop Jeffrey R.,
Tessman D. Clare,
Guter Steve,
Martin Christa L.,
Cook Edwin H.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35754
Subject(s) - autism , psychosis , schizophrenia (object oriented programming) , psychiatry , autism spectrum disorder , pediatrics , copy number variation , intellectual disability , medicine , psychology , genetics , biology , gene , genome
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. © 2013 Wiley Periodicals, Inc.