[article]
| Titre : |
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Sara BULGHERONI, Auteur ; Stefano D'ARRIGO, Auteur ; Silvia ESPOSITO, Auteur ; Matilde TADDEI, Auteur ; Veronica SALETTI, Auteur ; Enrico ALFEI, Auteur ; Francesca Luisa SCIACCA, Auteur ; Ambra RIZZO, Auteur ; Chiara PANTALEONI, Auteur ; Daria RIVA, Auteur |
| Article en page(s) : |
p.615-623 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://doi.org/10.1007/s10803-020-04833-5 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495 |
in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.615-623
[article] CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder [Texte imprimé et/ou numérique] / Sara BULGHERONI, Auteur ; Stefano D'ARRIGO, Auteur ; Silvia ESPOSITO, Auteur ; Matilde TADDEI, Auteur ; Veronica SALETTI, Auteur ; Enrico ALFEI, Auteur ; Francesca Luisa SCIACCA, Auteur ; Ambra RIZZO, Auteur ; Chiara PANTALEONI, Auteur ; Daria RIVA, Auteur . - p.615-623. Langues : Anglais ( eng) in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.615-623
| Index. décimale : |
PER Périodiques |
| Résumé : |
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. |
| En ligne : |
https://doi.org/10.1007/s10803-020-04833-5 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495 |
|
CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder in Journal of Autism and Developmental Disorders, 53-2 (February 2023)
