[article] 
inJournal of Autism and Developmental Disorders > 50-7 (July 2020) . - p.2491-2500

Titre :	Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
Type de document :	Texte imprimé et/ou numérique
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

[article] Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome [Texte imprimé et/ou numérique] / Molly Mishler THOMASON, Auteur ; John MCCARTHY, Auteur ; Robin P GOIN-KOCHEL, Auteur ; Lauren R. DOWELL, Auteur ; Christian P. SCHAAF, Auteur ; Leandra N. BERRY, Auteur . - p.2491-2500.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-7 (July 2020) . - p.2491-2500

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