Title |
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with “Essential” Autism Spectrum Disorders
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Published in |
Journal of Autism and Developmental Disorders, October 2017
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DOI | 10.1007/s10803-017-3329-4 |
Pubmed ID | |
Authors |
Eleonora Napoli, Serena Russo, Laura Casula, Viola Alesi, Filomena Alessandra Amendola, Adriano Angioni, Antonio Novelli, Giovanni Valeri, Deny Menghini, Stefano Vicari |
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. |
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Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 52 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 9 | 17% |
Student > Master | 8 | 15% |
Student > Bachelor | 6 | 12% |
Student > Doctoral Student | 4 | 8% |
Other | 2 | 4% |
Other | 5 | 10% |
Unknown | 18 | 35% |
Readers by discipline | Count | As % |
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Neuroscience | 7 | 13% |
Biochemistry, Genetics and Molecular Biology | 6 | 12% |
Psychology | 6 | 12% |
Medicine and Dentistry | 4 | 8% |
Agricultural and Biological Sciences | 3 | 6% |
Other | 5 | 10% |
Unknown | 21 | 40% |