Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.

ABSTRACT:

Background

Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition.

Methods

Individuals age 3-21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R).

Results

There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluati

SUBMITTER: Srivastava S 

PROVIDER: S-EPMC8570010 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature