Sleep Consequences of Prader-Willi Syndrome

Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14:10–26.

Article  CAS  PubMed  Google Scholar 

•• Butler MG, Miller JL, Forster JL. Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: an update. Curr Pediatr Rev. 2019;15:207–44. The authors review clinical, genetic and treatment summaries pertinent to individuals with Prader-Willi syndrome

Article  PubMed  PubMed Central  Google Scholar 

Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015;38:1249–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bieth E, Eddiry S, Gaston V, et al. Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome. Eur J Hum Genet. 2015;23:252–5.

Article  CAS  PubMed  Google Scholar 

Lassi G, Priano L, Maggi S, et al. Deletion of the Snor D116/S no RD116 alters sleep in mice and patients with Prader-Willi syndrome. Sleep. 2016. https://doi.org/10.5665/sleep.5542.

Article  PubMed  PubMed Central  Google Scholar 

•• Tauber M, Hoybye C. Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction. Lancet Diabetes Endocrinol. 2021;9:235–46. The authors discuss Prader-Willi syndrome as a model of hypothalamic dysfunction and describe accumulated knowledge on genetics, pathophysiology, and treatment options

Article  CAS  PubMed  Google Scholar 

Einfeld SL, Kavanagh SJ, Evans EJ, Tonge BJ, Taffe J (2002) Mortality in Prader-Willi syndrome NIH Public Access. Van

Gillett E, Perez I. Disorders of sleep and ventilatory control in Prader-Willi syndrome. Diseases. 2016;4:23.

Article  PubMed  PubMed Central  Google Scholar 

Arens R, Gozal D, Omlin KJ, Livingston FR, Liu J, Keens TG, Ward SLD. Hypoxic and hypercapnic ventilatory responses in Prader-Willi syndrome. J Appl Physiol. 1994. https://doi.org/10.1152/jappl.1994.77.5.2224.

Article  PubMed  Google Scholar 

Gozal D, Arens R, Omlin KJ, Ward SLD, Keens TG. Absent peripheral chemosensitivity in Prader-Willi syndrome. J Appl Physiol. 1994. https://doi.org/10.1152/jappl.1994.77.5.2231.

Article  PubMed  Google Scholar 

Cohen M, Hamilton J, Narang I. Clinically important age-related differences in sleep related disordered breathing in infants and children with Prader-Willi syndrome. PLoS One. 2014. https://doi.org/10.1371/journal.pone.0101012.

Article  PubMed  PubMed Central  Google Scholar 

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. https://doi.org/10.1136/archdischild-2012-303441.

Article  PubMed  Google Scholar 

Berry RB, Brooks R, Gamaldo CE, Harding SM, Lloyd RM, Marcus CL, Vaughn BV. The AASM manual for the scoring of sleep and associated events: rules, terminology and technical specifications, version 2.6. American Academy of Sleep Medicine, Darien, Illinois. Darien, Illinois: American Academy of Sleep Medicine. 2011.

Torrado M, Araoz V, Baialardo E, et al. Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study. Am J Med Genet A. 2007. https://doi.org/10.1002/ajmg.a.31520.

Article  PubMed  Google Scholar 

de Lind Van, Wijngaarden RFA, Joosten KFM, van den Berg S, Otten BJ, de Jong FH, Sweep CGJ, de Weerd AW, Hokken-Koelega ACS. The relationship between central adrenal insufficiency and sleep-related breathing disorders in children with Prader-Willi syndrome. J Clin Endocrinol Metab. 2009;94:2387–93.

Article  Google Scholar 

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. https://doi.org/10.1136/archdischild-2016-311298.

Article  PubMed  Google Scholar 

• Schaefer J, Davey MJ, Nixon GM. Sleep-disordered breathing in school-aged children with Prader-Willi syndrome. J Clin Sleep Med. 2022. https://doi.org/10.5664/jcsm.9788. The authors report sleep-related hypoventilation is common in school-aged children with PWS. The presence of central sleep apnea was predictive of the presence of hypoventilation.

Article  PubMed  Google Scholar 

Yee BJ, Buchanan PR, Mahadev S, Banerjee D, Liu PY, Phillips C, Loughnan G, Steinbeck K, Grunstein RR. Assessment of sleep and breathing in adults with Prader-Willi syndrome: a case control series. J Clin Sleep Med. 2007. https://doi.org/10.5664/jcsm.27028.

Article  PubMed  PubMed Central  Google Scholar 

Eiholzer U. Deaths in children with Prader-Willi syndrome: a contribution to the debate about the safety of growth hormone treatment in children with PWS. Horm Res. 2005;63:33–9.

CAS  PubMed  Google Scholar 

Tan HL, Urquhart DS. Respiratory complications in children with Prader Willi syndrome. Paediatr Respir Rev. 2017;22:52–9.

PubMed  Google 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;10:403–9.

Article  PubMed  PubMed Central  Google Scholar 

• Ozsezen B, Emiralioglu N, Özön A, et al. Sleep disordered breathing in patients with Prader willi syndrome: impact of underlying genetic mechanism. Respir Med. 2021. https://doi.org/10.1016/j.rmed.2021.106567. The authors evaluate sleep-disordered breathing in patients with Prader-willi syndrome.

Article  PubMed  Google Scholar 

Livingston FR, Arens R, Bailey SL, Keens TG, Ward SLD. Hypercapnic arousal responses in Prader-Willi syndrome. Chest. 1995. https://doi.org/10.1378/chest.108.6.1627.

Article  PubMed  Google Scholar 

Arens R, Gozal D, Burrell BC, Bailey SL, Bautista DB, Keens TC, Davidson Ward SL. Arousal and cardiorespiratory responses to hypoxia in Prader-Willi syndrome. Am J Respir Crit Care Med. 1996. https://doi.org/10.1164/ajrccm.153.1.8542130.

Article  PubMed  Google Scholar 

Ghergan A, Coupaye M, Leu-Semenescu S, Attali V, Oppert JM, Arnulf I, Poitou C, Redolfi S. Prevalence and phenotype of sleep disorders in 60 adults with prader–Willi syndrome. Sleep. 2017. https://doi.org/10.1093/sleep/zsx162.

Article  PubMed  Google Scholar 

• Abel F, Tan HL, Negro V, Bridges N, Carlisle T, Chan E, Laverty A, Miligkos M, Samuels M, Kaditis AG. Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome. Arch Dis Child. 2019. https://doi.org/10.1136/archdischild-2017-314282. The authors conclude that patients with PWS have disproportionately longer periods of hypoventilation when compared with non-syndromic children with similar frequency of obstructive episodes.

Article  PubMed  Google Scholar 

van Vliet G, Deal CL, Crock PA, Robitaille Y, Oligny LL. Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr. 2004. https://doi.org/10.1016/j.jpeds.2003.09.049.

Article  PubMed  Google Scholar 

Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M. Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome. J Clin Endocrinol Metab. 2006;91:413–7.

Article  CAS  PubMed  Google Scholar 

Vandeleur M, Davey MJ, Nixon GM. Are sleep studies helpful in children with Prader-Willi syndrome prior to commencement of growth hormone therapy? J Paediatr Child Health. 2013;49:238–41.

Article  PubMed  Google Scholar 

Wong SB, Yang MC, Tzeng IS, Tsai WH, Lan CC, Tsai LP. Progression of obstructive sleep apnea syndrome in pediatric patients with Prader-Willi syndrome. Children. 2022. https://doi.org/10.3390/children9060912.

Article  PubMed  PubMed Central  Google Scholar 

Lee CH, Hsu WC, Ko JY, Yeh TH, Lin MT, Kang KT. Adenotonsillectomy for the treatment of obstructive sleep apnea in children with Prader-Willi syndrome: a meta-analysis. Otolaryngology - Head and Neck Surgery (United States). 2020;162:168–76.

Article  Google Scholar 

•• Clements AC, Dai X, Walsh JM, Sterni LM, Prichett L, Boss EF, Seal SM, Ryan MA. Outcomes of adenotonsillectomy for obstructive sleep apnea in Prader-Willi syndrome: systematic review and meta-analysis. Laryngoscope. 2021. https://doi.org/10.1002/lary.28922. The authors report that children with PWS undergoing AT have significant risk of postoperative complications, including velopharyngeal insufficiency.

Article  PubMed  Google Scholar 

Hoban TF, Friedman NR. Polysomnography should be required both before and after adenotonsillectomy for childhood sleep disordered breathing. J Clin Sleep Med. 2007. https://doi.org/10.5664/jcsm.27021.

Article  PubMed  PubMed Central  Google Scholar 

Sforza E, Krieger J, Geisert J, Kurtz D. Sleep and breathing abnormalities in a case of Prader-Willi syndrome. Acta Paediatr Scand: The effects of acute continuous positive airway pressure treatment; 1991. https://doi.org/10.1111/j.1651-2227.1991.tb11734.x.

Book  Google Scholar 

Smith IE, King MA, Siklos PWL, Shneerson JM. Treatment of ventilatory failure in the Prader-Willi syndrome. Eur Respir J. 1998. https://doi.org/10.1183/09031936.98.11051150.

Article  PubMed  Google Scholar 

Maloney MA, Ward SLD, Su JA, Durazo-Arvizu RA, Breunig JM, Okpara DU, Gillett ES. Prevalence of pulmonary hypertension on echocardiogram in children with severe obstructive sleep apnea. J Clin Sleep Med. 2022. https://doi.org/10.5664/jcsm.9944.

Article  PubMed  Google Scholar 

Wu ZH, Yang XP, Niu X, Xiao XY, Chen X. The relationship between obstructive sleep apnea hypopnea syndrome and gastroesophageal reflux disease: a meta-analysis. Sleep and Breathing. 2019. https://doi.org/10.1007/s11325-018-1691-x.

Article  PubMed  Google Scholar 

Saeves R, Strøm F, Sandvik L, Nordgarden H. Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome? Orphanet J Rare Dis. 2018. https://doi.org/10.1186/s13023-018-0809-3.

Article  PubMed  PubMed Central  Google Scholar 

Lindgren AC, Hellström LG, Ritzén EM, Milerad J. Growth hormone treatment increases CO2 response, ventilation and central inspiratory drive in children with Prader-Willi syndrome. Eur J Pediatr. 1999. https://doi.org/10.1007/s004310051246.

Article  PubMed  Google Scholar 

Zimmermann M, Laemmer C, Woelfle J, Fimmers R, Gohlke B. Sleep-disordered breathing in children with Prader-Willi syndrome in relation to growth hormone therapy onset. Horm Res Paediatr. 2020;93:85–93.

Article  CAS  PubMed 

留言 (0)

沒有登入
gif