ABSTRACT

Background: Prader-Willi syndrome (PWS) is a genetic disorder with multiple risk factors to develop sleep disorders of breathing (SDB). The aim of the study is to describe the polysomnographic findings of children with PWS treated at the Respiratory Sleep Disorders Clinic INER. Material and methods: Clinical records were reviewed from January 01, 2005 to December 31, 2015. Children under 18 years of age with genetic diagnosis of PWS studied by nocturnal polysomnography were included. Polysomnograms were eliminated with total sleep time less than 4 hours and/or sleep efficiency less than 70%. Results: Four children were identified, mostly in adolescence, all with obesity and multiple comorbidities. Three patients met the criterion of some SDB, 1 had hypoventilation during sleep, 1 hypoventilation during sleep + obstructive apnea and another with central apnea. Conclusions: The SDB are highly frequent among patients with PWS, the most frequent disorder was hypoventilation syndrome during sleep.

KEYWORDS

Prader-Willi syndrome, hypoventilation, sleep apnea.

REFERENCES

1. Prader A, Labhart A, Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im neugeborenenalter. Schweiz Med Wochenschr 1956;86:1260-1261.

2. Butler M, Hanchett J, Thompson T. Clinical findings and natural history of Prader-Willi syndrome. In: Butler M, Phillips L, Whitman B, editors. Management of Prader-Willi syndrome. USA: Springer Verlag New York; 2006. p. 3-48.

3. Iber C, Ancoli-Israel S, Chesson AL, Quan S. The AASM manual for the scoring of sleep and associated events: rules, terminology, and technical specifications. Westchester, IL: American Academy of Sleep Medicine; 2007.

4. Centro Nacional de Estadísticas de Salud en colaboración con el Centro Nacional para la Prevención de Enfermedades Crónicas y Promoción (2000). Fecha de consulta: 28 de enero, 2018. Accesible en: http.www.cdc.gov/growcharts.

5. American Academy of Sleep Medicine. International Classification of Sleep Disorders. 3rd ed. Darien Il. USA: American Academy of Sleep Medicine; 2014.

6. Verrillo E, Bruni O, Franco P, et al. Analysis of NREM sleep in children with Prader-Willi syndrome and the effect of growth hormone treatment. Sleep Med 2009;10(6):646-650. doi: 10.1016/j.sleep.2008.07.001.

7. Khayat A, Narang I, Bin-Hasan S, Amin R, Al-Saleh S. Longitudinal evaluation of sleep disordered breathing in infants with Prader-Willi syndrome. Arch Dis Child 2017;102(7):638-642. doi: 10.1136/archdischild-2016-311298.

8. Bonuck KA, Chervin RD, Cole TJ, et al. Prevalence and persistence of sleep disordered breathing symptoms in young children: year a 6- population-based cohort study. Sleep 2011;34(7):875-884. doi: 10.5665/SLEEP.1118.

9. Bin-Hasan S, Katz S, Nugent Z, et al. Prevalence of obstructive sleep apnea among obese toddlers and preschool children. Sleep Breath 2018;22(2):511-515. doi: 10.1007/s11325-017-1576-4.

10. Sedky K, Bennett DS, Pumariega A. Prader Willi syndrome and obstructive sleep apnea: co-occurrence in the pediatric population. J Clin Sleep Med 2014;10(4):403-409. doi: 10.5664/jcsm.3616.

11. Pavone M, Caldarelli V, Khirani S, et al. Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study. Pediatr Pulmonol 2015;50(12):1354-1359. doi: 10.1002/ppul.23177.

12. Giordano L, Toma S, Palonta F, et al. Obstructive sleep apnea in Prader-Willi syndrome: risks and advantages of adenotonsillectomy. Pediatr Med Chir 2015;37(2):pmc.2015.107. doi: 10.4081/pmc.2015.107.

13. Gunay-Aygun M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001;108(5):E92.

14. Arens R, Gozal D, Omlin KJ, et al. Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome. J Appl Physiol 1994;77(5):2224-2230.

15. Nevsimalova S, Vankova J, Stepanova I, Seemanova E, Mignot E, Nishino S. Hypocretin deficiency in Prader-Willi syndrome. Eur J Neurol 2005;12(1):70-72.

16. Doshi A, Udwadia Z. Prader-Willi syndrome with sleep disordered breathing: effect of two years nocturnal CPAP. Indian J Chest Dis Allied Sci 2001;43(1):51-53.

17. Urquhart DS, Gulliver T, Williams G, Harris MA, Nyunt O, Suresh S. Central sleep-disordered breathing and the effects of oxygen therapy in infants with Prader-Willi syndrome. Arch Dis Child 2013;98(8):592-595. doi: 10.1136/archdischild-2012-303441.

18. Pavone M, Caldarelli V, Khirani S, et al. Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study. Pediatr Pulmonol 2015;50(12):1354-1359. doi: 10.1002/ppul.23177.

19. Berini J, Spica Russotto V, Castelnuovo P, et al. Growth hormone therapy and respiratory disorders: long-term follow-up in PWS children. J Clin Endocrinol Metab 2013;98(9):E1516-1523. doi: 10.1210/jc.2013-1831.