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Journal of Autism and Developmental Disorders

Gepubliceerd in:

20-10-2018 | Original Paper

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

Auteurs: Molly Mishler Thomason, John McCarthy, Robin P. Goin-Kochel, Lauren R. Dowell, Christian P. Schaaf, Leandra N. Berry

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 7/2020

Abstract

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.

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Titel: Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
Auteurs: Molly Mishler Thomason
John McCarthy
Robin P. Goin-Kochel
Lauren R. Dowell
Christian P. Schaaf
Leandra N. Berry
Publicatiedatum: 20-10-2018
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 7/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-018-3775-7

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