Journal of Autism and Developmental Disorders

, Volume 48, Issue 2, pp 442–449 | Cite as

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
Original Paper


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.


ASD 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.

Authors’ Contributions

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.

Ethical Approval

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

Informed consent was obtained from all individual participants included in the study.

Supplementary material

10803_2017_3329_MOESM1_ESM.docx (29 kb)
Supplementary material 1 (DOCX 29 KB)


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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Eleonora Napoli
    • 1
  • Serena Russo
    • 2
  • Laura Casula
    • 1
  • Viola Alesi
    • 2
  • Filomena Alessandra Amendola
    • 1
  • Adriano Angioni
    • 2
  • Antonio Novelli
    • 2
  • Giovanni Valeri
    • 1
  • Deny Menghini
    • 1
  • Stefano Vicari
    • 1
  1. 1.Department of Neurosciences, Child Neuropsychiatry UnitBambino Gesù Children’s Hospital, IRCCSRomeItaly
  2. 2.Laboratory of Medical GeneticsBambino Gesù Children’s Hospital, IRCCSRomeItaly

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