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

doi:10.1007/s10803-016-2807-4

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

School of Occupational Therapy

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	2734-2748
Number of pages	15
Journal	Journal of Autism and Developmental Disorders
Volume	46
Issue number	8
DOIs	https://doi.org/10.1007/s10803-016-2807-4
State	Published - Aug 2016

Keywords

Adolescent
Adult
Autism Spectrum Disorder/diagnosis
Autistic Disorder/diagnosis
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders/diagnosis
Chromosomes, Human, Pair 16/genetics
Female
Gene Duplication/genetics
Humans
Infant
Intellectual Disability/diagnosis
Male
Phenotype

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10.1007/s10803-016-2807-4

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

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.",

keywords = "Adolescent, Adult, Autism Spectrum Disorder/diagnosis, Autistic Disorder/diagnosis, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders/diagnosis, Chromosomes, Human, Pair 16/genetics, Female, Gene Duplication/genetics, Humans, Infant, Intellectual Disability/diagnosis, Male, Phenotype",

author = "{Green Snyder}, LeeAnne and Debra D'Angelo and Qixuan Chen and Raphael Bernier and Goin-Kochel, {Robin P} and Wallace, {Arianne Stevens} and Jennifer Gerdts and Stephen Kanne and Leandra Berry and Lisa Blaskey and Emily Kuschner and Timothy Roberts and Elliot Sherr and Martin, {Christa L} and Ledbetter, {David H} and Spiro, {John E} and Chung, {Wendy K} and Ellen Hanson and Benjamin Aaronson",

note = "Publisher Copyright: {\textcopyright} 2016, Springer Science+Business Media New York.",

year = "2016",

month = aug,

doi = "10.1007/s10803-016-2807-4",

language = "الإنجليزيّة",

volume = "46",

pages = "2734--2748",

journal = "Journal of Autism and Developmental Disorders",

issn = "0162-3257",

publisher = "Springer New York",

number = "8",

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T1 - Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication

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

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.

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KW - Adult

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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

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DO - 10.1007/s10803-016-2807-4

M3 - مقالة

C2 - 27207092

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JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

IS - 8

ER -

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

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