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Journal of Autism and Developmental Disorders

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21-05-2016 | Original Paper

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

Auteurs: 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, on behalf of the Simons VIP consortium

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 8/2016

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.

vorige artikel After Early Autism Diagnosis: Changes in Intervention and Parent–Child Interaction

volgende artikel Preschool to School in Autism: Neuropsychiatric Problems 8 Years After Diagnosis at 3 Years of Age

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Titel: Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
Auteurs: 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
on behalf of the Simons VIP consortium
Publicatiedatum: 21-05-2016
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 8/2016
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-016-2807-4

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