ERIC Number: EJ1368658
Record Type: Journal
Publication Date: 2023-Feb
Pages: 9
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: EISSN-1573-3432
Available Date: N/A
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
Annunziata, Silvia; Bulgheroni, Sara; D'Arrigo, Stefano; Esposito, Silvia; Taddei, Matilde; Saletti, Veronica; Alfei, Enrico; Sciacca, Francesca Luisa; Rizzo, Ambra; Pantaleoni, Chiara; Riva, Daria
Journal of Autism and Developmental Disorders, v53 n2 p615-623 Feb 2023
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75 patients, 11 classified as pathogenic. The complex ASD subjects have higher frequency of pathogenic CNVs with a diagnostic yield of 12.8%. Familiality, cognitive and verbal abilities, severity of autistic symptoms, neuroimaging and neurophysiological findings are not related to genetic data. This study identifies loci of interest for ASD and highlights the importance of a careful phenotypic characterization, as complex ASD is related to higher rate of pathogenic CNVs.
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Symptoms (Individual Disorders), Individual Characteristics, Etiology
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A
Author Affiliations: N/A