Title |
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
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Published in |
Journal of Autism and Developmental Disorders, May 2016
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DOI | 10.1007/s10803-016-2807-4 |
Pubmed ID | |
Authors |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Canada | 1 | 33% |
United Kingdom | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 33% |
Members of the public | 1 | 33% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
France | 2 | 1% |
United States | 1 | <1% |
Unknown | 143 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 28 | 19% |
Student > Ph. D. Student | 24 | 16% |
Researcher | 17 | 12% |
Student > Doctoral Student | 9 | 6% |
Student > Bachelor | 7 | 5% |
Other | 21 | 14% |
Unknown | 40 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Psychology | 36 | 25% |
Medicine and Dentistry | 20 | 14% |
Neuroscience | 12 | 8% |
Agricultural and Biological Sciences | 8 | 5% |
Biochemistry, Genetics and Molecular Biology | 7 | 5% |
Other | 15 | 10% |
Unknown | 48 | 33% |