Article Dans Une Revue Sleep Année : 2017

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

Adelina Ghergan
  • Fonction : Auteur
Muriel Coupaye
  • Fonction : Auteur
Smaranda Leu-Semenescu
  • Fonction : Auteur
Valérie Attali
  • Fonction : Auteur
Jean-Michel Oppert
  • Fonction : Auteur
Isabelle Arnulf
Stefania Redolfi
  • Fonction : Auteur

Résumé

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.

Dates et versions

hal-04012326 , version 1 (02-03-2023)

Identifiants

Citer

Adelina Ghergan, Muriel Coupaye, Smaranda Leu-Semenescu, Valérie Attali, Jean-Michel Oppert, et al.. Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader–Willi Syndrome. Sleep, 2017, 40 (12), ⟨10.1093/sleep/zsx162⟩. ⟨hal-04012326⟩
44 Consultations
0 Téléchargements

Altmetric

Partager

  • More