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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes

Olivia J Veatch1, Beth A Malow2, Hye-Seung Lee3

  • 1Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas.

Pediatric Neurology
|August 13, 2021
PubMed

Insights

Children with Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes experience frequent sleep disturbances. Sleep-disordered breathing is common in RTT and PWS, highlighting the need for clinical screening.

Area of Science:

  • Neuroscience
  • Pediatrics
  • Genetics

Background:

  • Sleep is crucial for neurodevelopment and health.
  • Sleep disturbances are more common in children with neurodevelopmental syndromes.
  • Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes are genetically determined neurodevelopmental disorders.

Purpose of the Study:

  • Characterize sleep behavior in RTT, AS, and PWS.
  • Identify effective approaches for treating sleep problems in these populations.
  • Compare sleep-related symptoms across syndromes and with typically developing controls.

Main Methods:

  • Recruited children from Rare Diseases Clinical Research Network registries.
  • Enrolled unaffected siblings as related controls.
  • Administered validated sleep questionnaires to parents.

Main Results:

  • Analyzed sleep data from 714 participants (ages 2-18).
  • Younger children with AS reported more sleep problems than RTT or PWS.
  • Older children with RTT had increased daytime sleepiness; RTT showed more sleep-disordered breathing than PWS.

Conclusions:

  • Individuals with RTT, AS, and PWS frequently experience sleep problems, including sleep-disordered breathing.
  • Clinical assessment and management should include screening for sleep problems in neurogenetic disorders.
  • Data can inform treatment strategies and clinical trials for sleep disturbances.
Abstract

Keywords:
Genetic syndromesNeurodevelopmentPediatric sleepRare disease

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