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Gepubliceerd in: Journal of Autism and Developmental Disorders 2/2023

04-01-2021 | Original Paper

CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Auteurs: Silvia Annunziata, Sara Bulgheroni, Stefano D’Arrigo, Silvia Esposito, Matilde Taddei, Veronica Saletti, Enrico Alfei, Francesca Luisa Sciacca, Ambra Rizzo, Chiara Pantaleoni, Daria Riva

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 2/2023

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Abstract

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.
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Metagegevens
Titel
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
Auteurs
Silvia Annunziata
Sara Bulgheroni
Stefano D’Arrigo
Silvia Esposito
Matilde Taddei
Veronica Saletti
Enrico Alfei
Francesca Luisa Sciacca
Ambra Rizzo
Chiara Pantaleoni
Daria Riva
Publicatiedatum
04-01-2021
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 2/2023
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-020-04833-5

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