Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

J Autism Dev Disord. 2020 Jul;50(7):2491-2500. doi: 10.1007/s10803-018-3775-7.

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.

MeSH terms

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

Substances

  • MAGEL2 protein, human
  • Proteins