Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders
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.
KeywordsASD Cognitive development Clinical phenotype Children Genetic investigation CNVs
We thank the families that participated in this study. The authors would like to thank Paola Giovanna Volpi for her help with the manuscript.
There was no funding for this paper.
EN participated the design of the study and coordination, performed the measurement and drafted the manuscript; SR conceived of the study, participated in its design and coordination and drafted the manuscript; LC participated in the design and coordination of the study, performed the measurement and helped to draft the manuscript; VA performed the measurement and participated in interpretation of the data; FAA performed the measurement; AA participated the design of the study, revised critically the manuscript and participated in interpretation of the data; AN participated the design of the study and interpretation of the data; GV participated the design of the study and coordination, interpretation of the data and helped to draft the manuscript; DM participated in the design, interpretation of the data, performed the statistical analysis and helped to draft the manuscript; SV participated the design of the study and coordination, interpretation of the data and helped to draft the manuscript. All authors read and approved the final manuscript.
Compliance with Ethical Standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
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