ERIC Number: EJ1257565
Record Type: Journal
Publication Date: 2020-Jul
Pages: 10
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: N/A
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
Thomason, Molly Mishler; McCarthy, John; Goin-Kochel, Robin P.; Dowell, Lauren R.; Schaaf, Christian P.; Berry, Leandra N.
Journal of Autism and Developmental Disorders, v50 n7 p2491-2500 Jul 2020
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.
Descriptors: Genetic Disorders, Neurological Impairments, Developmental Disabilities, Cognitive Ability, Behavior Disorders, Autism, Pervasive Developmental Disorders, Symptoms (Individual Disorders), Youth
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A