AI Article Synopsis
- Truncating variants in the MAGEL2 gene lead to Schaaf-Yang syndrome (SYS), a neurodevelopmental disorder linked to Prader-Willi syndrome (PWS).
- The study assessed 9 patients with SYS to evaluate their neurobehavioral characteristics, focusing on cognitive, adaptive, and emotional functioning.
- Results indicated that SYS patients displayed more severe cognitive impairments, no obsessive-compulsive behaviors, and higher prevalence of autism spectrum disorder compared to those with PWS.
Article 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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| http://dx.doi.org/10.1007/s10803-018-3775-7 | DOI Listing |
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