Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.
J Autism Dev Disord
; 46(8): 2734-2748, 2016 Aug.
Article
em En
| MEDLINE
| ID: mdl-27207092
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 16
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Duplicação Gênica
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Transtorno do Espectro Autista
Tipo de estudo:
Diagnostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
J Autism Dev Disord
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Estados Unidos