TY - JOUR
T1 - Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders
AU - Napoli, Eleonora
AU - Russo, Serena
AU - Casula, Laura
AU - Alesi, Viola
AU - Amendola, Filomena Alessandra
AU - Angioni, Adriano
AU - Novelli, Antonio
AU - Valeri, Giovanni
AU - Menghini, Deny
AU - Vicari, Stefano
PY - 2017/10/12
Y1 - 2017/10/12
N2 - 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.
AB - 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.
KW - ASD
KW - Children
KW - Clinical phenotype
KW - CNVs
KW - Cognitive development
KW - Genetic investigation
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U2 - 10.1007/s10803-017-3329-4
DO - 10.1007/s10803-017-3329-4
M3 - Article
AN - SCOPUS:85031427671
SP - 1
EP - 8
JO - Journal of Autism and Developmental Disorders
JF - Journal of Autism and Developmental Disorders
SN - 0162-3257
ER -