التفاصيل البيبلوغرافية
| العنوان: |
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder. |
| المؤلفون: |
Annunziata, Silvia, Bulgheroni, Sara, D'Arrigo, Stefano, Esposito, Silvia, Taddei, Matilde, Saletti, Veronica, Alfei, Enrico, Sciacca, Francesca Luisa, Rizzo, Ambra, Pantaleoni, Chiara, Riva, Daria |
| المصدر: |
Journal of Autism & Developmental Disorders; Feb2023, Vol. 53 Issue 2, p615-623, 9p, 1 Chart, 1 Graph |
| مصطلحات موضوعية: |
DIAGNOSIS of autism, GENETICS of autism, NUCLEIC acid hybridization, GENETIC variation, GENETIC testing, CHILDREN with disabilities, COGNITION, SEVERITY of illness index, AUTISM, CYTOGENETICS, NEURORADIOLOGY, PHENOTYPES, SYMPTOMS, CHILDREN |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
