Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.

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.

• Authors: Molly Mishler Thomason, John McCarthy, Robin P Goin-Kochel, Lauren R Dowell, Christian P Schaaf, Leandra N Berry
• Journal: Journal of autism and developmental disorders (J Autism Dev Disord) Vol. 50 Issue 7 Pg. 2491-2500 (Jul 2020) ISSN: 1573-3432 [Electronic] United States
• PMID: 30343463 (Publication Type: Journal Article)

Chemical References

• MAGEL2 protein, human
• Proteins

Topics

• Abnormalities, Multiple (diagnosis, genetics, psychology)
• Adolescent
• Autism Spectrum Disorder (diagnosis, genetics, psychology)
• Child
• Female
• Humans
• Male
• Mental Status and Dementia Tests
• Neurodevelopmental Disorders (diagnosis, genetics, psychology)
• Phenotype
• Proteins (genetics)
• Syndrome