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

被引：0
作者：
LeeAnne Green Snyder
Debra D’Angelo
Qixuan Chen
Raphael Bernier
Robin P. Goin-Kochel
Arianne Stevens Wallace
Jennifer Gerdts
Stephen Kanne
Leandra Berry
Lisa Blaskey
Emily Kuschner
Timothy Roberts
Elliot Sherr
Christa L. Martin
David H. Ledbetter
John E. Spiro
Wendy K. Chung
Ellen Hanson
机构：
[1] Simons Foundation,Department of Biostatics
[2] Columbia University,Department of Clinical Genetics
[3] Columbia University,Department of Psychiatry and Behavioral Sciences
[4] University of Washington,Department of Pediatrics
[5] Baylor College of Medicine,Thompson Center
[6] University of Missouri,Department of Radiology
[7] Children’s Hospital Philadelphia,Department of Child and Adolescent Psychiatry and Behavioral Sciences
[8] Children’s Hospital Philadelphia,Autism and Developmental Medicine Institute
[9] University of California San Francisco School of Medicine,Developmental Medicine
[10] Geisinger Health System,undefined
[11] Children’s Hospital Boston/Harvard Medical School,undefined
来源：
Journal of Autism and Developmental Disorders | 2016年 / 46卷
关键词：
16p11.2 duplication; Genetics; Neuropsychological; Autism; Intellectual disability; Cognitive;
D O I：
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中图分类号：
学科分类号：
摘要：
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.
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页码：2734 / 2748
页数：14
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