期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 161A, 期 4, 页码 845-849出版社
WILEY
DOI: 10.1002/ajmg.a.35754
关键词
autism; 3q29; DLG1; PAK2; intellectual disability; psychosis
资金
- Simons Foundation
- Training in the Neuroscience of Mental Health [5T32MH067631-07]
- [K08MH083888]
Some copy number variants (CNVs) are strongly implicated in both schizophrenia and autism spectrum disorders (ASDs). Childhood-onset schizophrenia (COS) occurs rarely with 0.11% of all schizophrenia diagnoses manifesting before age 10. 3q29 deletions are associated with both autism and schizophrenia, and are rarethe 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 psychosismanifesting by the age of 5 years. (c) 2013 Wiley Periodicals, Inc.
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