Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome.

Abstract

Study Objectives:

Excessive sleepiness is a common symptom in Prader-Willi syndrome (PWS), and it negatively impacts the quality of life. Obstructive sleep apnea and narcolepsy phenotypes have been reported in PWS. We characterized sleep disorders in a large cohort of adults with PWS.

Methods:

All consecutive patients with genetically confirmed PWS unselected for sleep-related symptoms, underwent a clinical interview, polysomnography, and multiple sleep latency tests (MSLT, n = 60), followed by long-term (24 hours) polysomnography (n = 22/60).

Results:

Among 60 adults evaluated (57% female, aged 25 ± 10 years, body mass index: 39 ± 12 kg/m2), 67% reported excessive sleepiness. According to the sleep study results, 43% had a previously unrecognized hypersomnia disorder, 15% had an isolated sleep breathing disorder, 12% had combined hypersomnia disorder and untreated breathing sleep disorder, and only 30% had normal sleep. Isolated hypersomnia disorder included narcolepsy in 35% (type 1, n = 1, and type 2, n = 8), hypersomnia in 12% (total sleep time >11 hours, n = 2, and MSLT <8 minutes, n = 1), and borderline phenotype in 53% (≥2 sleep onset in REM periods and MSLT >8 minutes, n = 10, and 8 minutes < MSLT < 10 minutes, n = 4). Sleep breathing disorders, isolated and combined, included obstructive sleep apnea (n = 14, already treated in seven), sleep hypoxemia (n = 1) and previously undiagnosed hypoventilation (n = 5). Modafinil was taken by 16 patients (well tolerated in 10), resulting in improved sleepiness over a mean 5-year follow-up period.

Conclusion:

Sleepiness affects more than half of adult patients with PWS, with a variety of hypersomnia disorder (narcolepsy, hypersomnia, and borderline phenotypes) and breathing sleep disorders. Earlier diagnosis and management of sleep disorders may improve sleepiness, cognition, and behavior in these patients.

• Authors: Adelina Ghergan, Muriel Coupaye, Smaranda Leu-Semenescu, Valérie Attali, Jean-Michel Oppert, Isabelle Arnulf, Christine Poitou, Stefania Redolfi
• Journal: Sleep (Sleep) Vol. 40 Issue 12 (12 01 2017) ISSN: 1550-9109 [Electronic] United States
• PMID: 29294134 (Publication Type: Journal Article)
• Copyright: © Sleep Research Society 2017. Published by Oxford University Press [on behalf of the Sleep Research Society]. All rights reserved. For permissions, please email: [email protected]

Topics

• Adolescent
• Adult
• Body Mass Index
• Cohort Studies
• Female
• Follow-Up Studies
• Humans
• Male
• Middle Aged
• Phenotype
• Polysomnography (methods)
• Prader-Willi Syndrome (diagnosis, epidemiology, genetics)
• Prevalence
• Prospective Studies
• Quality of Life
• Sleep (genetics)
• Sleep Wake Disorders (diagnosis, epidemiology, genetics)
• Wakefulness (genetics)
• Young Adult