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

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 publi... Full description

Journal Title: Journal of autism and developmental disorders 2016, Vol.46 (8), p.2734-2748
Main Author: Green Snyder, LeeAnne
Other Authors: D’Angelo, Debra , Chen, Qixuan , Bernier, Raphael , Goin-Kochel, Robin P. , Wallace, Arianne Stevens , Gerdts, Jennifer , Kanne, Stephen , Berry, Leandra , Blaskey, Lisa , Kuschner, Emily , Roberts, Timothy , Sherr, Elliot , Martin, Christa L. , Ledbetter, David H. , Spiro, John E. , Chung, Wendy K. , Hanson, Ellen
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: New York: Springer US
ID: ISSN: 0162-3257
Link: https://www.ncbi.nlm.nih.gov/pubmed/27207092
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title: Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
format: Article
creator:
  • Green Snyder, LeeAnne
  • D’Angelo, Debra
  • Chen, Qixuan
  • Bernier, Raphael
  • Goin-Kochel, Robin P.
  • Wallace, Arianne Stevens
  • Gerdts, Jennifer
  • Kanne, Stephen
  • Berry, Leandra
  • Blaskey, Lisa
  • Kuschner, Emily
  • Roberts, Timothy
  • Sherr, Elliot
  • Martin, Christa L.
  • Ledbetter, David H.
  • Spiro, John E.
  • Chung, Wendy K.
  • Hanson, Ellen
subjects:
  • Adolescent
  • Adult
  • Anxiety
  • Attention deficit hyperactivity disorder
  • Autism
  • Autism Spectrum Disorder - diagnosis
  • Autism Spectrum Disorder - genetics
  • Autism Spectrum Disorder - psychology
  • Autistic children
  • Autistic Disorder - diagnosis
  • Autistic Disorder - genetics
  • Autistic Disorder - psychology
  • Autistic spectrum disorders
  • Behavioral Science and Psychology
  • Carriers
  • Child
  • Child and School Psychology
  • Child, Preschool
  • Children
  • Chromosome Deletion
  • Chromosome Disorders - diagnosis
  • Chromosome Disorders - genetics
  • Chromosome Disorders - psychology
  • Chromosomes, Human, Pair 16 - genetics
  • Clonal deletion
  • Diagnosis
  • Disability
  • Female
  • Gene Duplication - genetics
  • Genetic aspects
  • Humans
  • Infant
  • Intellectual disabilities
  • Intellectual Disability - diagnosis
  • Intellectual Disability - genetics
  • Intellectual Disability - psychology
  • Learning disabilities
  • Male
  • Neurosciences
  • Original Paper
  • Pediatrics
  • Pervasive developmental disorders
  • Phenotype
  • Phenotypes
  • Psychology
  • Public Health
  • Risk factors
  • Variability
ispartof: Journal of autism and developmental disorders, 2016, Vol.46 (8), p.2734-2748
description: 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.
language: eng
source:
identifier: ISSN: 0162-3257
fulltext: no_fulltext
issn:
  • 0162-3257
  • 1573-3432
url: Link


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titleAutism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
creatorGreen Snyder, LeeAnne ; D’Angelo, Debra ; Chen, Qixuan ; Bernier, Raphael ; Goin-Kochel, Robin P. ; Wallace, Arianne Stevens ; Gerdts, Jennifer ; Kanne, Stephen ; Berry, Leandra ; Blaskey, Lisa ; Kuschner, Emily ; Roberts, Timothy ; Sherr, Elliot ; Martin, Christa L. ; Ledbetter, David H. ; Spiro, John E. ; Chung, Wendy K. ; Hanson, Ellen
creatorcontribGreen Snyder, LeeAnne ; D’Angelo, Debra ; Chen, Qixuan ; Bernier, Raphael ; Goin-Kochel, Robin P. ; Wallace, Arianne Stevens ; Gerdts, Jennifer ; Kanne, Stephen ; Berry, Leandra ; Blaskey, Lisa ; Kuschner, Emily ; Roberts, Timothy ; Sherr, Elliot ; Martin, Christa L. ; Ledbetter, David H. ; Spiro, John E. ; Chung, Wendy K. ; Hanson, Ellen ; Simons VIP consortium ; on behalf of the Simons VIP consortium
descriptionThe 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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subjectAdolescent ; Adult ; Anxiety ; Attention deficit hyperactivity disorder ; Autism ; Autism Spectrum Disorder - diagnosis ; Autism Spectrum Disorder - genetics ; Autism Spectrum Disorder - psychology ; Autistic children ; Autistic Disorder - diagnosis ; Autistic Disorder - genetics ; Autistic Disorder - psychology ; Autistic spectrum disorders ; Behavioral Science and Psychology ; Carriers ; Child ; Child and School Psychology ; Child, Preschool ; Children ; Chromosome Deletion ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; Chromosome Disorders - psychology ; Chromosomes, Human, Pair 16 - genetics ; Clonal deletion ; Diagnosis ; Disability ; Female ; Gene Duplication - genetics ; Genetic aspects ; Humans ; Infant ; Intellectual disabilities ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Intellectual Disability - psychology ; Learning disabilities ; Male ; Neurosciences ; Original Paper ; Pediatrics ; Pervasive developmental disorders ; Phenotype ; Phenotypes ; Psychology ; Public Health ; Risk factors ; Variability
ispartofJournal of autism and developmental disorders, 2016, Vol.46 (8), p.2734-2748
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descriptionThe 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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32Intellectual disabilities
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37Male
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40Pediatrics
41Pervasive developmental disorders
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46Risk factors
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titleAutism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
authorGreen Snyder, LeeAnne ; D’Angelo, Debra ; Chen, Qixuan ; Bernier, Raphael ; Goin-Kochel, Robin P. ; Wallace, Arianne Stevens ; Gerdts, Jennifer ; Kanne, Stephen ; Berry, Leandra ; Blaskey, Lisa ; Kuschner, Emily ; Roberts, Timothy ; Sherr, Elliot ; Martin, Christa L. ; Ledbetter, David H. ; Spiro, John E. ; Chung, Wendy K. ; Hanson, Ellen
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7Kanne, Stephen
8Berry, Leandra
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abstractThe 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.
copNew York
pubSpringer US
pmid27207092
doi10.1007/s10803-016-2807-4