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