Caregiver-based perception of disease burden in Schaaf-Yang syndrome.

ABSTRACT:

Background

Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternally expressed MAGEL2 gene in the Prader-Willi syndrome-region on chromosome 15q. In addition to hypotonia and intellectual disability, individuals with SYS are frequently affected by neonatal contractures and autism spectrum disorder. In this study, we focus on the burden of disease on patients and their families for the first time.

Methods

Based on the online SYS Patient Voices Survey the perspective of 81 primary caregivers on SYS was assessed.

Results

The perceived severity of muscular and developmental manifestations dominated the evaluation of the phenotype in early childhood, while behavioral issues were considered more impactful later in life. Impo

SUBMITTER: Dotsch L 

PROVIDER: S-EPMC10724517 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature