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Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes

  • Author(s): Veatch, Olivia J;
  • Malow, Beth A;
  • Lee, Hye-Seung;
  • Knight, Aryn;
  • Barrish, Judy O;
  • Neul, Jeffrey L;
  • Lane, Jane B;
  • Skinner, Steven A;
  • Kaufmann, Walter E;
  • Miller, Jennifer L;
  • Driscoll, Daniel J;
  • Bird, Lynne M;
  • Butler, Merlin G;
  • Dykens, Elisabeth M;
  • Gold, June-Anne;
  • Kimonis, Virginia;
  • Bacino, Carlos A;
  • Tan, Wen-Hann;
  • Kothare, Sanjeev V;
  • Peters, Sarika U;
  • Percy, Alan K;
  • Glaze, Daniel G
  • et al.

AbstractBackgroundAdequate 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. We characterize sleep behavior in Rett (RTT), Angelman (AS) and Prader-Willi (PWS) syndromes in order to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes to each other, and to typically developing controls.MethodsChildren 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; Pediatric Daytime Sleepiness Scale.ResultsSleep 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.ConclusionsIndividuals with RTT, AS and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

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