TY - JOUR
T1 - Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
AU - Simons Vip Consortium
AU - Green Snyder, LeeAnne
AU - D'Angelo, Debra
AU - Chen, Qixuan
AU - Bernier, Raphael
AU - Goin-Kochel, Robin P
AU - Wallace, Arianne Stevens
AU - Gerdts, Jennifer
AU - Kanne, Stephen
AU - Berry, Leandra
AU - Blaskey, Lisa
AU - Kuschner, Emily
AU - Roberts, Timothy
AU - Sherr, Elliot
AU - Martin, Christa L
AU - Ledbetter, David H
AU - Spiro, John E
AU - Chung, Wendy K
AU - Hanson, Ellen
AU - Aaronson, Benjamin
N1 - Publisher Copyright:
© 2016, Springer Science+Business Media New York.
PY - 2016/8
Y1 - 2016/8
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Autism Spectrum Disorder/diagnosis
KW - Autistic Disorder/diagnosis
KW - Child
KW - Child, Preschool
KW - Chromosome Deletion
KW - Chromosome Disorders/diagnosis
KW - Chromosomes, Human, Pair 16/genetics
KW - Female
KW - Gene Duplication/genetics
KW - Humans
KW - Infant
KW - Intellectual Disability/diagnosis
KW - Male
KW - Phenotype
UR - http://www.scopus.com/inward/record.url?scp=84969972292&partnerID=8YFLogxK
U2 - 10.1007/s10803-016-2807-4
DO - 10.1007/s10803-016-2807-4
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C2 - 27207092
SN - 0162-3257
VL - 46
SP - 2734
EP - 2748
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
IS - 8
ER -