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Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome
Molly Mishler Thomason1,2, John McCarthy3,4,5, Robin P Goin-Kochel3,4,6
1Baylor College of Medicine, Houston, TX, USA. molly.mishler@gmail.com.
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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