CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

• Published in: Journal of autism and developmental disorders Vol. 53; no. 2; pp. 615 - 623
• Main Authors: Annunziata, Silvia, Bulgheroni, Sara, D’Arrigo, Stefano, Esposito, Silvia, Taddei, Matilde, Saletti, Veronica, Alfei, Enrico, Sciacca, Francesca Luisa, Rizzo, Ambra, Pantaleoni, Chiara, Riva, Daria
• Format: Journal Article
• Language: English
• Published: New York Springer US 01-02-2023; Springer; Springer Nature B.V
• Subjects: Autism; Autism Spectrum Disorder - diagnosis; Autism Spectrum Disorder - genetics; Autism Spectrum Disorders; Autistic children; Behavioral Science and Psychology; Child; Child and School Psychology; Child Development Disorders, Pervasive; Children & youth; Cognition; Cognitive ability; Comparative Genomic Hybridization - methods; Congenital diseases; Copy number; Copy number variations; Development and progression; Diagnosis; DNA Copy Number Variations - genetics; Etiology; Genetic aspects; Genetic Disorders; Genetics; Genomes; Genomics; Humans; Hybridization; Identification and classification; Individual Characteristics; Mass spectrometry; Neuroimaging; Neurology; Neurosciences; Original Paper; Pediatrics; Pervasive developmental disorders; Psychology; Public Health; Quantitative trait loci; Recurrent; Scientific imaging; Symptoms (Individual Disorders); Variants; Italy; Array; ASD; Complex autism spectrum disorder; Developmental disorders; Children; Copy number variants (CNVs); comparative genomic hybridization (array-CGH); Array-comparative genomic hybridization (array-CGH)
• ISSN: 0162-3257; 1573-3432
• DOI: 10.1007/s10803-020-04833-5

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.