CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Autor/inn/en	Annunziata, Silvia; Bulgheroni, Sara; D'Arrigo, Stefano; Esposito, Silvia; Taddei, Matilde; Saletti, Veronica; Alfei, Enrico; Sciacca, Francesca Luisa; Rizzo, Ambra; Pantaleoni, Chiara; Riva, Daria
Titel	CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder
Quelle	In: Journal of Autism and Developmental Disorders, 53 (2023) 2, S.615-623 (9 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Esposito, Silvia)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-020-04833-5
Schlagwörter	Autism Spectrum Disorders; Genetic Disorders; Symptoms (Individual Disorders); Individual Characteristics; Etiology + Suchen Sie Ihr Suchwort? Autism; Autismus; Psychiatrische Symptomatik; Personality characteristic; Personality traits; Persönlichkeitsmerkmal; Ätiologie
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01