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

Autor/inn/en	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
Titel	Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
Quelle	In: Journal of Autism and Developmental Disorders, 46 (2016) 8, S.2734-2748 (15 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-016-2807-4
Schlagwörter	Pervasive Developmental Disorders; Developmental Disabilities; Psychiatry; Statistical Analysis; Neuropsychology; Clinical Diagnosis; Control Groups; Experimental Groups; Diagnostic Tests; Genetic Disorders; Ecological Factors; Behavior Rating Scales; Adults; Children; Autism + Suchen Sie Ihr Suchwort? Entwicklungsstörung; Psychiatrie; Statistische Analyse; Neuropsychologie; Diagnostic test; Diagnostischer Test; Ökologischer Ansatz; Child; Kind; Kinder; Autismus
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2020/1/01