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Diagnosis and management of sleep disorders in Prader-Willi syndrome

Jessica Duis1, Lara C Pullen2, Maria Picone3

  • 1Section of Genetics and Inherited Metabolic Diseases, Section of Pediatrics Special Care Clinic, Prader-Willi Syndrome Multidisciplinary Clinic, Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|February 17, 2022
PubMed

Insights

Sleep disturbances are common in Prader-Willi syndrome (PWS) and often overlooked. Early diagnosis and management of sleep disorders are crucial for improving health and behavior in individuals with PWS.

Area of Science:

  • Neuroendocrinology
  • Sleep Medicine
  • Genetics

Background:

  • Prader-Willi syndrome (PWS) is a rare genetic disorder with complex medical and behavioral issues.
  • Sleep disturbances are frequently observed in individuals with PWS but often underdiagnosed and undertreated.
  • Recognized sleep issues include sleep apnea, hypersomnia, narcolepsy-like phenotypes, and insomnia, impacting overall health.

Purpose of the Study:

  • To highlight the unmet need for clinical diagnosis and management of sleep disorders in PWS.
  • To review current literature and clinical experience regarding sleep problems in PWS.
  • To emphasize the importance of integrating sleep management into the comprehensive care of PWS patients.

Main Methods:

  • Literature review of published research on sleep disorders in PWS.
  • Synthesis of clinical experience from a multidisciplinary team of specialists.
  • Development of recommendations for clinical practice.

Main Results:

  • Sleep disorders are a significant and often overlooked burden in individuals with PWS.
  • Beyond sleep apnea, other conditions like hypersomnia and insomnia are increasingly recognized.
  • Effective sleep management can positively impact behavior, cognition, and quality of life.

Conclusions:

  • Sleep disorders are integral to the medical management of PWS and require proactive attention.
  • Further research is essential to establish best practices and consensus guidelines for PWS sleep management.
  • Addressing sleep issues is critical for improving the health and well-being of individuals with PWS.

Keywords:
Prader-Willi syndromecataplexyexcessive daytime sleepinesshypersomnolenceimprinting disordernarcolepsyobstructive sleep apneasleep-disordered breathing

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