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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalJournal of Autism and Developmental Disorders
DOIs
Publication statusAccepted/In press - Oct 12 2017

Keywords

  • ASD
  • Children
  • Clinical phenotype
  • CNVs
  • Cognitive development
  • Genetic investigation

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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