[article]
| Titre : |
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome |
| Type de document : |
texte imprimé |
| Auteurs : |
Molly Mishler THOMASON, Auteur ; John MCCARTHY, Auteur ; Robin P GOIN-KOCHEL, Auteur ; Lauren R. DOWELL, Auteur ; Christian P. SCHAAF, Auteur ; Leandra N. BERRY, Auteur |
| Article en page(s) : |
p.2491-2500 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Autism spectrum disorder Behavior Magel2 Neurodevelopment Prader-Willi syndrome Schaaf-Yang syndrome |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder. |
| En ligne : |
http://dx.doi.org/10.1007/s10803-018-3775-7 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426 |
in Journal of Autism and Developmental Disorders > 50-7 (July 2020) . - p.2491-2500
|  |
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome in Journal of Autism and Developmental Disorders, 50-7 (July 2020)
