Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Jul;50(7):2491-2500.
doi: 10.1007/s10803-018-3775-7.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

Molly Mishler Thomason  1   2 , John McCarthy  3   4   5 , Robin P Goin-Kochel  3   4   6 , Lauren R Dowell  3   4 , Christian P Schaaf  3   4   6   7 , Leandra N Berry  3   4
Affiliations

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

Molly Mishler Thomason et al. J Autism Dev Disord. 2020 Jul.

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.

Keywords: Autism spectrum disorder; Behavior; MAGEL2; Neurodevelopment; Prader-Willi syndrome; Schaaf-Yang syndrome.

PubMed Disclaimer