| Literature DB >> 27207092 |
LeeAnne Green Snyder1, Debra D'Angelo2, Qixuan Chen2, Raphael Bernier3, Robin P Goin-Kochel4, Arianne Stevens Wallace3, Jennifer Gerdts3, Stephen Kanne5, Leandra Berry4, Lisa Blaskey6, Emily Kuschner7, Timothy Roberts7, Elliot Sherr8, Christa L Martin9, David H Ledbetter9, John E Spiro10, Wendy K Chung10,11, Ellen Hanson12.
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.Entities:
Keywords: 16p11.2 duplication; Autism; Cognitive; Genetics; Intellectual disability; Neuropsychological
Mesh：
Year: 2016 PMID： 27207092 DOI： 10.1007/s10803-016-2807-4
Source DB: PubMed Journal: J Autism Dev Disord ISSN： 0162-3257