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.
authors.affiliation: Simons Foundation, 160 5th Avenue, 7th Floor, New York, NY, USA. lgsnyder@simonsfoundation.org.
authors.forename: LeeAnne
authors.initials: L
authors.lastname: Green Snyder
authors.affiliation: Department of Biostatics, Columbia University, New York, NY, USA.
authors.forename: Debra
authors.initials: D
authors.lastname: D'Angelo
authors.affiliation: Department of Biostatics, Columbia University, New York, NY, USA.
authors.forename: Qixuan
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
authors.forename: Raphael
authors.initials: R
authors.lastname: Bernier
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Robin P
authors.initials: RP
authors.lastname: Goin-Kochel
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
authors.forename: Arianne Stevens
authors.initials: AS
authors.lastname: Wallace
authors.affiliation: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Gerdts
authors.affiliation: Thompson Center, University of Missouri, Columbia, MO, USA.
authors.forename: Stephen
authors.initials: S
authors.lastname: Kanne
authors.affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Leandra
authors.initials: L
authors.lastname: Berry
authors.affiliation: Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital Philadelphia, Philadelphia, PA, USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: Blaskey
authors.affiliation: Department of Radiology, Children's Hospital Philadelphia, Philadelphia, PA, USA.
authors.forename: Emily
authors.initials: E
authors.lastname: Kuschner
authors.affiliation: Department of Radiology, Children's Hospital Philadelphia, Philadelphia, PA, USA.
authors.forename: Timothy
authors.initials: T
authors.lastname: Roberts
authors.affiliation: University of California San Francisco School of Medicine, San Francisco, CA, USA.
authors.forename: Elliot
authors.initials: E
authors.lastname: Sherr
authors.affiliation: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, PA, USA.
authors.forename: Christa L
authors.initials: CL
authors.lastname: Martin
authors.affiliation: Autism and Developmental Medicine Institute, Geisinger Health System, Danville, PA, USA.
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.affiliation: Simons Foundation, 160 5th Avenue, 7th Floor, New York, NY, USA.
authors.forename: John E
authors.initials: JE
authors.lastname: Spiro
authors.affiliation: Simons Foundation, 160 5th Avenue, 7th Floor, New York, NY, USA.|Department of Clinical Genetics, Columbia University, New York, NY, USA.
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
authors.affiliation: Developmental Medicine, Children's Hospital Boston/Harvard Medical School, Boston, MA, USA.
authors.forename: Ellen
authors.initials: E
authors.lastname: Hanson
mesh_terms: D000293:Adolescent; D000328:Adult; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D008297:Male; D010641:Phenotype
keywords: 16p11.2 duplication; Autism; Cognitive; Genetics; Intellectual disability; Neuropsychological