Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

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...

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Bibliographic Details
Published in:Journal of autism and developmental disorders 2020-07, Vol.50 (7), p.2491-2500
Main Authors: Thomason, Molly Mishler, McCarthy, John, Goin-Kochel, Robin P., Dowell, Lauren R., Schaaf, Christian P., Berry, Leandra N.
Format: Article
Language:English
Subjects:
Adaptive behavior
Autism
Behavior
Behavior Disorders
Behavioral Science and Psychology
Child and School Psychology
Child development deviations
Chromosome 15
Chromosomes
Cognition
Cognitive Ability
Cognitive aspects
Cognitive impairment
Comparative analysis
Demographic aspects
Developmental Disabilities
Diagnosis
Emotional behavior
Emotional well being
Evaluation
Genes
Genetic aspects
Genetic Disorders
Intellectual functioning
Intelligence
MAGEL2 gene
Neural coding
Neurobehavioral functioning
Neurodevelopmental disorders
Neurological Impairments
Neurosciences
Organic mental disorder
Original Paper
Pediatrics
Pervasive Developmental Disorders
Phenotypes
Prader-Willi syndrome
Psychology
Public Health
Risk factors
Symptoms (Individual Disorders)
Variants
Youth
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Summary: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.
ISSN:0162-3257
1573-3432
DOI:10.1007/s10803-018-3775-7