Diagnosis and management of sleep disorders in Prader-Willi syndrome

J Clin Sleep Med. 2022 Jun 1;18(6):1687-1696. doi: 10.5664/jcsm.9938.


Clinical experience and a growing body of evidence suggest that sleep disturbances are common in people with Prader-Willi syndrome (PWS). PWS is a rare neuroendocrine disorder characterized by early hypotonia and feeding difficulties; developmental delays; endocrinopathies; and behavioral concerns, especially rigidity, anxiety, and behavioral outbursts. PWS is also characterized by decreased resting energy expenditure and transition to hyperphagia and obesity. We propose that, for many people with PWS, clinical diagnosis and management of sleep disorders is an unmet need. We present current information to suggest disordered sleep is a significant burden for individuals with PWS and often overlooked. While central and obstructive sleep apnea are more widely recognized in PWS, other sleep disorders have increasingly gained recognition, including hypersomnia, narcolepsy-like phenotypes, and insomnia. Sleep disorders can impact behavior, cognition, and quality of life and health for individuals with PWS. Our goal is to bring sleep disorders to the forefront of therapeutic intervention for patients with PWS. This paper presents a review of the literature and recommendations for clinical practice based on published research and our clinical experience as sleep specialists, geneticists, psychiatrists, pediatricians, otolaryngologists, and pulmonologists with extensive experience with this patient population. We recommend that management of sleep be considered an integral part of successful medical management of PWS. Further research concerning sleep problems in PWS is urgently needed to develop best practices and work toward a consensus statement for medical management to meet the needs of people with PWS.

Citation: Duis J, Pullen LC, Picone M, et al. Diagnosis and management of sleep disorders in Prader-Willi syndrome. J Clin Sleep Med. 2022;18(6):1687-1696.

Keywords: Prader-Willi syndrome; cataplexy; excessive daytime sleepiness; hypersomnolence; imprinting disorder; narcolepsy; obstructive sleep apnea; sleep-disordered breathing.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Disorders of Excessive Somnolence*
  • Humans
  • Narcolepsy*
  • Prader-Willi Syndrome* / complications
  • Prader-Willi Syndrome* / diagnosis
  • Prader-Willi Syndrome* / therapy
  • Quality of Life
  • Sleep Wake Disorders* / complications
  • Sleep Wake Disorders* / diagnosis