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

被引：45

作者：

Snyder, LeeAnne Green ^{[1
]}

D'Angelo, Debra ^{[2
]}

Chen, Qixuan ^{[2
]}

Bernier, Raphael ^{[4
]}

Goin-Kochel, Robin P. ^{[5
]}

Wallace, Arianne Stevens ^{[4
]}

Gerdts, Jennifer ^{[4
]}

Kanne, Stephen ^{[6
]}

Berry, Leandra ^{[5
]}

Blaskey, Lisa ^{[8
]}

Kuschner, Emily ^{[7
]}

Roberts, Timothy ^{[7
]}

Sherr, Elliot ^{[9
]}

Martin, Christa L. ^{[10
]}

Ledbetter, David H. ^{[10
]}

Spiro, John E. ^{[1
]}

Chung, Wendy K. ^{[1
,3
]}

Hanson, Ellen ^{[11
]}

机构：

[1] Simons Fdn, 160 5th Ave,7th Floor, New York, NY 10010 USA

[2] Columbia Univ, Dept Biostat, New York, NY USA

[3] Columbia Univ, Dept Clin Genet, New York, NY USA

[4] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA

[5] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[6] Univ Missouri, Thompson Ctr, Columbia, MO USA

[7] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA 19104 USA

[8] Childrens Hosp Philadelphia, Dept Child & Adolescent Psychiat & Behav Sci, Philadelphia, PA 19104 USA

[9] Univ Calif San Francisco, Sch Med, San Francisco, CA USA

[10] Geisinger Hlth Syst, Autism & Dev Med Inst, Danville, PA USA

[11] Harvard Med Sch, Dev Med, Childrens Hosp Boston, Boston, MA USA

来源：

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2016年 / 46卷 / 08期

关键词：

16p11.2; duplication; Genetics; Neuropsychological; Autism; Intellectual disability; Cognitive; COPY NUMBER VARIANTS; DIAGNOSTIC INTERVIEW; ASSOCIATION; PHENOTYPE; GENES; RISK; REARRANGEMENTS; MICRODELETION; DISCOVERY; DELETIONS;

D O I：

10.1007/s10803-016-2807-4

中图分类号：

B844 [发展心理学（人类心理学）];

学科分类号：

040202 ;

摘要：

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.

引用

页码：2734 / 2748

页数：15

共 69 条

[1]

Achenbach T. M., 2003, Manual for the ASEBA Adult forms & profiles: For ages 18-59: Adult Self-Report, adult behavior checklist

[2]

Achenbach T.M., 2010, MULTICULTURAL SUPPLE

[3] Advances in empirically based assessment:: Revised cross-informant syndromes and new DSM-oriented scales for the CBCL, YSR, and TRF:: Comment on Lengua, Sadowksi, Friedrich, and Fisher (2001) [J].

Achenbach, TM ;

Dumenci, L .

JOURNAL OF CONSULTING AND CLINICAL PSYCHOLOGY, 2001, 69 (04) :699-702

[4]

[Anonymous], 2009, WECHSLER INDIVIDUAL

[5]

[Anonymous], SURVEILLANCE SUMMARI

[6]

[Anonymous], 2009, GENEREVIEWS

[7]

[Anonymous], 2007, Differential ability scales

[8]

[Anonymous], 2005, VINELAND ADAPTIVE BE

[9]

[Anonymous], 2000, DIAGN STAT MAN MENT, DOI DOI 10.1176/APPI.BOOKS.9780890425787

[10]

[Anonymous], RES DEV DIS IN PRESS

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