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Chapter 4 - Sleep Disorders in Prader-Willi Syndrome

Published online by Cambridge University Press:  26 May 2022

By
Mary Cataletto ,
Sumit Bhargava  and
Deepan Singh
Edited by
Deepan Singh
Deepan Singh
Affiliation:
Maimonides Medical Center in Brooklyn
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Summary

This chapter describes some of the commonly occurring sleep disturbances in PWS patients through a case study. OSA can have serious consequences ranging from hypersomnia, hypertension and heart failure to obesity-hypoventilation syndrome and death. Major risk factors for sleep-disordered breathing in PWS include craniofacial dysmorphism with small nasal and oropharyngeal spaces, obesity, and hypotonia. An attended, in-laboratory, nocturnal polysomnogram is recommended for the diagnosis of OSA in children. This case also highlights the critical importance of weight management in obese children with OSA and the initiation of continuous positive airway pressure in those individuals with OSA who are not appropriate surgical candidates. Hypersomnia in PWS is complex; is not always due solely to OSA and may not resolve with treatment of OSA alone. This suggests a central nervous system- or brain-related origin to hypersomnia in PWS. Central hypersomnias should be considered in those with persistent hypersomnia despite the therapeutic resolution of OSA. Diagnosis and treatment options for narcolepsy due to a medical condition are discussed.

Keywords

hypersomniahypersomnolenceexcessive daytime sleepinessobstructive sleep apneacontinuous positive airway pressure (CPAP)narcolepsycataplexyinsomnia
Type
Chapter
Information
Neuro-behavioral Manifestations of Prader-Willi Syndrome
A Guide for Clinicians and Caregivers
 , pp. 26 - 33
Publisher: Cambridge University Press
Print publication year: 2022

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References

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5).Google Scholar
Kolla, BP, He, J-P, Mansukhani, MP, Kotagal, S, Frye, MA, Merikangas, KR. Prevalence and correlates of hypersomnolence symptoms in US teens. J Am Acad Child Adolesc Psychiatry 2019;58(7): 712–20.Google Scholar
Classification of hypersomnias: Hypersomnia Foundation [Internet]. [cited June 22, 2021]. Available from www.hypersomniafoundation.org/classificationGoogle Scholar
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):403–9.CrossRefGoogle ScholarPubMed
Gillett, ES, Perez, IA. Disorders of sleep and ventilatory control in Prader-Willi syndrome. Diseases 2016;4(3):23. doi: 10.3390/diseases4030023CrossRefGoogle ScholarPubMed
Tan, HL, Urquhart, DS. Respiratory complications in children with Prader Willi syndrome. Paediatr Respir Rev 2017;22:52–9.Google ScholarPubMed
Marcus, CL, Brooks, LJ, Draper, KA, Gozal, D, Halbower, AC, Jones, J, et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics 2012;130(3):576–84.Google Scholar
Ji, NY, Findling, RL. Pharmacotherapy for mental health problems in people with intellectual disability. Curr Opin Psychiatry 2016;29(2):103–25.Google Scholar
Gao, K, Mackle, M, Cazorla, P, Zhao, J, Szegedi, A. Comparison of somnolence associated with asenapine, olanzapine, risperidone, and haloperidol relative to placebo in patients with schizophrenia or bipolar disorder. Neuropsychiatr Dis Treat 2013;9:1145–57.Google ScholarPubMed
Soni, S, Whittington, J, Holland, AJ, Webb, T, Maina, E, Boer, H, et al. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: Implications for management and treatment. J Intellect Disabil Res 2007;51(Pt 1):32–42.CrossRefGoogle ScholarPubMed
Bonnot, O, Cohen, D, Thuilleaux, D, Consoli, A, Cabal, S, Tauber, M. Psychotropic treatments in Prader-Willi syndrome: A critical review of published literature. Eur J Pediatr 2016;175(1):9–18.CrossRefGoogle ScholarPubMed
Liu, SY-W, Wong, SK-H, Lam, CC-H, Ng, EK-W. Bariatric surgery for Prader-Willi syndrome was ineffective in producing sustainable weight loss: Long term results for up to 10 years. Pediatr Obes 2020;15(1):e12575.Google Scholar
Smith, MT, McCrae, CS, Cheung, J, Martin, JL, Harrod, CG, Heald, JL, et al. Use of actigraphy for the evaluation of sleep disorders and circadian rhythm sleep-wake disorders: An American Academy of Sleep Medicine Systematic Review, Meta-Analysis, and GRADE Assessment. J Clin Sleep Med 2018;14(7):1209–30.Google ScholarPubMed
Filardi, M, Pizza, F, Martoni, M, Vandi, S, Plazzi, G, Natale, V. Actigraphic assessment of sleep/wake behavior in central disorders of hypersomnolence. Sleep Med 2015;16(1):126–30.CrossRefGoogle ScholarPubMed
Sateia, MJ. International Classification of Sleep Disorders, third edition: Highlights and modifications. Chest 2014;146(5):1387–94.Google Scholar
Ruoff, C, Rye, D. The ICSD-3 and DSM-5 guidelines for diagnosing narcolepsy: Clinical relevance and practicality. Curr Med Res Opin 2016;32(10):1611–22.Google Scholar
Thorpy, MJ. Classification of sleep disorders. Neurotherapeutics 2012;9(4):687–701.CrossRefGoogle ScholarPubMed
Pillen, S, Pizza, F, Dhondt, K, Scammell, TE, Overeem, S. Cataplexy and its mimics: Clinical recognition and management. Curr Treat Options Neurol 2017;19(6):23.Google Scholar
Wang, YG, Benmedjahed, K, Lambert, J, Evans, CJ, Hwang, S, Black, J, et al. Assessing narcolepsy with cataplexy in children and adolescents: Development of a cataplexy diary and the ESS-CHAD. Nat Sci Sleep 2017;9:201–11.Google Scholar
Plazzi, G, Pizza, F, Palaia, V, Franceschini, C, Poli, F, Moghadam, KK, et al. Complex movement disorders at disease onset in childhood narcolepsy with cataplexy. Brain 2011;134(Pt 12):3477–89.CrossRefGoogle ScholarPubMed
Weselake, SV, Foulds, JL, Couch, R, Witmans, MB, Rubin, D, Haqq, AM. Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: A case report. J Med Case Reports 2014;8:127.Google Scholar
Tobias, ES, Tolmie, JL, Stephenson, JBP. Cataplexy in the Prader-Willi syndrome. Arch Dis Child 2002;87(2):170.CrossRefGoogle ScholarPubMed
Omokawa, M, Ayabe, T, Nagai, T, Imanishi, A, Omokawa, A, Nishino, S, et al. Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome. Am J Med Genet A 2016;170A(5):1181–6.Google Scholar
Fronczek, R, Lammers, GJ, Balesar, R, Unmehopa, UA, Swaab, DF. The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome. J Clin Endocrinol Metab 2005;90(9):5466–70.CrossRefGoogle Scholar
Sonka, K, Kemlink, D, Busková, J, Pretl, M, Srůtková, Z, Maurovich Horvat, E, et al. Obesity accompanies narcolepsy with cataplexy but not narcolepsy without cataplexy. Neuro Endocrinol Lett 2010;31(5):631–4.Google Scholar
Wagner, MH, Berry, RB. An obese female with Prader-Willi syndrome and daytime sleepiness. J Clin Sleep Med 2007;3(6):645–7.Google Scholar
Kozlov, SV, Bogenpohl, JW, Howell, MP, Wevrick, R, Panda, S, Hogenesch, JB, et al. The imprinted gene Magel2 regulates normal circadian output. Nat Genet 2007;39(10):1266–72.CrossRefGoogle ScholarPubMed
Clift, S, Dahlitz, M, Parkes, JD. Sleep apnoea in the Prader-Willi syndrome. J Sleep Res 1994;3(2):121–6.CrossRefGoogle ScholarPubMed
Nixon, GM, Brouillette, RT. Sleep and breathing in Prader-Willi syndrome. Pediatr Pulmonol 2002;34(3):209–17.CrossRefGoogle ScholarPubMed
Nevsimalova, S. Narcolepsy in childhood. Sleep Med Rev 2009;13(2):169–80.Google Scholar
Ferraro, L, Tanganelli, S, O’Connor, WT, Antonelli, T, Rambert, F, Fuxe, K. The vigilance promoting drug modafinil decreases GABA release in the medial preoptic area and in the posterior hypothalamus of the awake rat: Possible involvement of the serotonergic 5-HT3 receptor. Neurosci Lett 1996;220(1):5–8.Google Scholar
Beusterien, KM, Rogers, AE, Walsleben, JA, Emsellem, HA, Reblando, JA, Wang, L, et al. Health-related quality of life effects of modafinil for treatment of narcolepsy. Sleep 1999;22(6):757–65.Google Scholar
Randomized trial of modafinil as a treatment for the excessive daytime somnolence of narcolepsy: US Modafinil in Narcolepsy Multicenter Study Group. Neurology 2000;54(5):1166–75.Google Scholar
Esnault-Lavandier, S, Mabin, D. [The effects of clomipramine on diurnal sleepiness and respiratory parameters in a case of Prader-Willi syndrome]. Neurophysiol Clin 1998;28(6):521–5.Google Scholar
Pullen, LC, Picone, M, Tan, L, Johnston, C, Stark, H. Cognitive improvements in children with Prader-Willi syndrome following pitolisant treatment: Patient reports. J Pediatr Pharmacol Ther 2019;24(2):166–71.Google ScholarPubMed
Plazzi, G, Ruoff, C, Lecendreux, M, Dauvilliers, Y, Rosen, CL, Black, J, et al. Treatment of paediatric narcolepsy with sodium oxybate: A double-blind, placebo-controlled, randomised-withdrawal multicentre study and open-label investigation. Lancet Child Adolesc Health 2018;2(7):483–94.Google Scholar
Gringras, P, Nir, T, Breddy, J, Frydman-Marom, A, Findling, RL. Efficacy and safety of pediatric prolonged-release melatonin for insomnia in children with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry 2017;56(11):948–957.e4.Google Scholar

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