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J Autism Dev Disord. 2016 Aug;46(8):2734-2748. doi: 10.1007/s10803-016-2807-4.

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

Author information

1
Simons Foundation, 160 5th Avenue, 7th Floor, New York, NY, USA. lgsnyder@simonsfoundation.org.
2
Department of Biostatics, Columbia University, New York, NY, USA.
3
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
4
Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
5
Thompson Center, University of Missouri, Columbia, MO, USA.
6
Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital Philadelphia, Philadelphia, PA, USA.
7
Department of Radiology, Children's Hospital Philadelphia, Philadelphia, PA, USA.
8
University of California San Francisco School of Medicine, San Francisco, CA, USA.
9
Autism and Developmental Medicine Institute, Geisinger Health System, Danville, PA, USA.
10
Simons Foundation, 160 5th Avenue, 7th Floor, New York, NY, USA.
11
Department of Clinical Genetics, Columbia University, New York, NY, USA.
12
Developmental Medicine, Children's Hospital Boston/Harvard Medical School, Boston, MA, USA.

Abstract

The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

KEYWORDS:

16p11.2 duplication; Autism; Cognitive; Genetics; Intellectual disability; Neuropsychological

PMID:
27207092
DOI:
10.1007/s10803-016-2807-4
[Indexed for MEDLINE]

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