Study: Evaluation of Sleep Disturbances in Children with Rar
Adequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared to typically developing counterparts.

Sleep behavior was characterized in Rett (RTT), Angelman (AS) and Prader-Willi (PWS) syndromes in order to identify effective approaches for treating sleep problems in these populations. Sleep-related symptoms were compared across individuals with these different syndromes to each other, and to typically developing controls.

Children were recruited from the Rare Diseases Clinical Research Network (RDCRN) consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including: Pediatric Sleep Questionnaire (Sleep-Disordered Breathing [SDB]); Children’s Sleep Habits Questionnaire (CSHQ); Pediatric Daytime Sleepiness Scale.

--Sleep data were analyzed from 714 participants, ages 2-18 years.

--Young children with AS had more reported sleep problems than children with RTT or PWS.

--Older children with RTT had more reported daytime sleepiness than those with AS or PWS.

--Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared to individuals with PWS.

--Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances which were associated with each of the genetic syndromes.

People with RTT, AS and PWS often have sleep issues, including sleep-disordered breathing, as a result of these disorders. The clinical assessment and management of persons with these and other neurogenetic disorders should include screening for sleep disturbances. These data could also be beneficial in formulating treatment methods and in clinical trials.

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