Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.
Autism spectrum disorder
Behavior
MAGEL2
Neurodevelopment
Prader-Willi syndrome
Schaaf-Yang syndrome
Journal
Journal of autism and developmental disorders
ISSN: 1573-3432
Titre abrégé: J Autism Dev Disord
Pays: United States
ID NLM: 7904301
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
pubmed:
22
10
2018
medline:
21
10
2020
entrez:
22
10
2018
Statut:
ppublish
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.
Identifiants
pubmed: 30343463
doi: 10.1007/s10803-018-3775-7
pii: 10.1007/s10803-018-3775-7
doi:
Substances chimiques
MAGEL2 protein, human
0
Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM