Sleep and Phelan-McDermid Syndrome: Lessons from the International Registry and the scientific literature.

ABSTRACT:

Background

Sleep is essential to maintaining a healthy life. Sleep disturbances among individuals with neurodevelopmental disorders are not well studied, affecting their early detection and treatment. Sleep disturbances in individuals with Phelan-McDermid Syndrome (PMS) are among the primary concerns reported by parents. However, little research has been aimed at addressing their concern.

Methods

The purpose of this investigation was to identify and quantify specific sleep disturbances in people with PMS by analyzing data collected by the PMS Foundation International Registry.

Results

The registry shows that 284 out of 384 (73.4%) individuals with confirmed chromosome 22q13 deletions or SHANK3 pathogenic variants have a sleep disturbance. The prevalence of sleep distu

SUBMITTER: Moffitt BA 

PROVIDER: S-EPMC9544216 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature