title: Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.
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.
authors: Institute for Juvenile Research, Department of Psychiatry, University of Illinois at Chicago, Chicago, IL 60608, UWQ. asagar@psych.uic.edu
authors: Angela
authors: A
authors: Sagar
authors: Jeffrey R
authors: JR
authors: Bishop
authors: D Clare
authors: DC
authors: Tessman
authors: Steve
authors: S
authors: Guter
authors: Christa L
authors: CL
authors: Martin
authors: Edwin H
authors: EH
authors: Cook
mesh_terms: D001321:Autistic Disorder / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D011618:Psychotic Disorders / Q000150:complications / Q000235:genetics*