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Journal of Autism and Developmental Disorders

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12-10-2017 | Original Paper

Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders

Auteurs: Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2018

Abstract

Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with “essential” ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD.

vorige artikel Contribution of Theory of Mind, Executive Functioning, and Pragmatics to Socialization Behaviors of Children with High-Functioning Autism

volgende artikel Validating a Culturally-sensitive Social Competence Training Programme for Adolescents with ASD in a Chinese Context: An Initial Investigation

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Titel: Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders
Auteurs: Eleonora Napoli
Serena Russo
Laura Casula
Viola Alesi
Filomena Alessandra Amendola
Adriano Angioni
Antonio Novelli
Giovanni Valeri
Deny Menghini
Stefano Vicari
Publicatiedatum: 12-10-2017
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 2/2018
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-017-3329-4

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