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Current Pulmonology Reports

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01-06-2017 | Sleeping and Breathing (T Lee-Chiong)

Hypoventilation Syndromes

Authors: April Shepherd, Sheila C. Tsai

Published in: Current Pulmonology Reports | Issue 2/2017

Abstract

Purpose of Review

This chapter provides a concise yet comprehensive overview of hypoventilation syndromes for the medical provider and offers a brief overview of the latest developments in treatments of the conditions listed.

Recent Findings

There have been few advances in the field of genetics to develop medications that target the function of genes responsible for congenital diseases that cause hypoventilation. Despite these few advances, larger-scale interventional studies need to be done. Diaphragmatic pacing and positive airway pressure (PAP) modalities continue to be used for treatment of certain hypoventilation syndromes.

Summary

The best and most widely tested and efficient treatments for hypoventilation remain positive airway pressure therapy. Although there are treatment advances, they should continue to be utilized in conjunction with PAP therapy.

Fishman LS. Primary alveolar hypoventilation syndrome (Ondine’s curse). Am J Dis Child. 1965;110:155–61. doi:10.1001/archpedi.1965.02090030165011.CrossRefPubMed

Chin TW, Chen JJ, Maharaj S. Congenital central hypoventilation syndrome. Congenital central hypoventilation syndrome: background, pathophysiology, epidemiology. In: http://emedicine.medscape.com/article/1002927-overview. (2014). Accessed Jan 28^th 2017.

Boing S, Randerath W. Chronic hypoventilation syndromes and sleep-related hypoventilation. Journal of Thoracic Disease. 2015;7:1273–85. doi:10.3978/j.issn.2072-1439.2015.06.10.CrossRefPubMedPubMedCentral

Preutthipan A, Kuptanon T, Kamalaporn H, Leejakpai A, Nugboon M, Wattanasirichaigoon D. Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports. J Med Case Rep. 2015; doi:10.1186/s13256-015-0631-7.CrossRefPubMedPubMedCentral

Cielo CM, Marcus CL. Central hypoventilation syndromes. Sleep Medicine Clinics. 2014;9:105–18. doi:10.1016/j.jsmc.2013.10.005.CrossRefPubMed

Nicholson KJ, Nosanov LB, Bowen KA, Kun SS, Perez IA, Keens TG, Shin CE. Thoracoscopic placement of phrenic nerve pacers for diaphragm pacing in congenital central hypoventilation syndrome. J Pediatr Surg. 2015;50:78–81. doi:10.1016/j.jpedsurg.2014.10.002.CrossRefPubMed

Straus C, Trang H, Becquemin M-H, Touraine P, Similowski T. Chemosensitivity recovery in Ondine’s curse syndrome under treatment with desogestrel. Respir Physiol Neurobiol. 2010;171:171–4. doi:10.1016/j.resp.2010.03.015.CrossRefPubMed

•• Joubert F, Perrin-Terrin A-S, Verkaeren E, Cardot P, Fiamma M-N, Frugière A, Rivals I, Similowski T, Straus C, Bodineau L. Desogestrel enhances ventilation in ondine patients: animal data involving serotoninergic systems. Neuropharmacology. 2016;107:339–50. doi:10.1016/j.neuropharm.2016.03.041. Desogestrel enhances ventilation in Ondine patients: animal data involving serotoninergic systems. This highlights newer medical treatments for hypoventilation which may be a possible alternative to PAP therapy or may be used in conjunction with PAP therapy for added benefit CrossRefPubMed

•• Zanni ED, Bachetti T, Parodi S, Bocca P, Prigione I, Lascio SD, Fornasari D, Ravazzolo R, Ceccherini I. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins. Neurobiol Dis. 2012;45:508–18. doi:10.1016/j.nbd.2011.09.007. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins. I highlighted this despite being an older study as it represents a possible cure for the disease using targeted therapy. It is unclear as to how long the effect of treatment lasts and the effect on hypoventilation in human subjects. Further testing would be prudent. CrossRefPubMed

10.

Praud J-P. Central hypoventilation syndrome. Paediatr Respir Rev. 2010; doi:10.1016/s1526-0542(10)70069-5.CrossRefPubMed

11.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. In: NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/rapid-onset-obesity-with-hypothalamic-dysfunction-hypoventilation-and-autonomic-dysregulation/. Accessed 28 Jan 2017.

12.

Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007;120 doi:10.1542/peds.2006-3324.CrossRef

13.

Reppucci D, Hamilton J, Yeh EA, Katz S, Al-Saleh S, Narang I. ROHHAD syndrome and evolution of sleep disordered breathing. Orphanet Journal of Rare Diseases. 2016;11:106. doi:10.1186/s13023-016-0484-1.CrossRefPubMedPubMedCentral

14.

• Jacobson LA, Rane S, Mcreynolds LJ, Steppan DA, Chen AR, Paz-Priel I. Improved behavior and neuropsychological function in children with ROHHAD after high-dose cyclophosphamide. Pediatrics. 2016;138 doi:10.1542/peds.2015-1080. Improved behavior and neuropsychological function in children with ROHHAD after high-dose cyclophosphamide. Further studies on the effects of this treatment on hypoventilation would be interesting. Possible alternative therapy and long-term side effects should also be documented. Current studies are underway with results pending. CrossRef

15.

Evrensel A, Erensoy H, Ceylan M. Psychiatric symptoms in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and its treatment: a case report. Chin Med J. 2016;129:242–3. doi:10.4103/0366-6999.173550.CrossRefPubMedPubMedCentral

16.

Scheimann A. Prader-Willi syndrome. In: Prader-Willi syndrome: background, pathophysiology, epidemiology. (2015) http://emedicine.medscape.com/article/947954-followup. Accessed 28 Jan 2017.

17.

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;3:713–8.CrossRef

18.

Pavone M, Caldarelli V, Khirani S, et al. Sleep disordered breathing in patients with Prader-Willi syndrome: a multicenter study. Pediatr Pulmonol. 2015;50:1354–9. doi:10.1002/ppul.23177.CrossRefPubMed

19.

Grugni G, Sartorio A, Crinò A. Growth hormone therapy for Prader–Willi syndrome: challenges and solutions. Ther Clin Risk Manag. 2016;12:873–81. doi:10.2147/TCRM.S70068.CrossRefPubMedPubMedCentral

20.

Al-Saleh S, Al-Naimi A, Hamilton J, Zweerink A, Iaboni A, Narang I. Longitudinal evaluation of sleep-disordered breathing in children with Prader-Willi syndrome during 2 years of growth hormone therapy. J Pediatr. 2013;162:263–8. doi:10.1016/j.jpeds.2012.07.042.CrossRefPubMed

21.

Knani I, Earley BJ, Udi S, et al. Targeting the endocannabinoid/CB1 receptor system for treating obesity in Prader–Willi syndrome. Molecular Metabolism. 2016;5:1187–99. doi:10.1016/j.molmet.2016.10.004.CrossRefPubMedPubMedCentral

22.

•• Kim Y, Lee H-M, Xiong Y, Sciaky N, Hulbert SW, Cao X, Everitt JI, Jin J, Roth BL, Jiang Y-H. Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome. Nat Med. 2016; doi:10.1038/nm.4257. Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome. Targeted gene therapy which in the future can be applied to human cases with potential cure of the disease. Further studies in human subjects are necessary CrossRefPubMedPubMedCentral

23.

Vaphiades MS, Braswell R. Resolution of Chiari I malformation following acetazolamide therapy. Semin Ophthalmol. 2007;22:9–11. doi:10.1080/08820530601162966.CrossRefPubMed

24.

Milerad J, Lagercrantz H, Johnson P. Obstructive sleep apnea in Arnold-Chiari malformation treated with acetazolamide. Acta Paediatr. 1992;81:609–12. doi:10.1111/j.1651-2227.1992.tb12311.x.CrossRefPubMed

25.

Frampton JE. Oxycodone/naloxone PR: a review in severe refractory restless legs syndrome. CNS Drugs. 2015;29:511–8. doi:10.1007/s40263-015-0254-y.CrossRefPubMed

26.

Aurora RN, Kristo DA, Bista SR, Rowley JA, Zak RS, Casey KR, Lamm CI, Tracy SL, Rosenberg RS. The treatment of restless legs syndrome and periodic limb movement disorder in adults—an update for 2012: practice parameters with an evidence-based systematic review and meta-analyses. Focus. 2014;12:99–121. doi:10.5665/sleep.1988.CrossRef

27.

Lydic R, Keifer JC, Baghdoyan HA, Craft R, Angel C. Opiate action on sleep and breathing. Principles and practice of sleep medicine sixth edition (2017).

28.

• Cao M, Cardell C-Y, Willes L, Mendoza J, Benjafield A, Kushida C. A novel adaptive servoventilation (ASVAuto) for the treatment of central sleep apnea associated with chronic use of opioids. J Clin Sleep Med. 2014;10:855–61. doi:10.5664/jcsm.3954. Adaptive servoventilation (ASVAuto) for the treatment of central sleep apnea associated with chronic use of opioids. Provides an important update to current best practices. CrossRefPubMedPubMedCentral

29.

National Institutes of Health. In: National Institutes of Health. https://www.ninds.nih.gov/Disorders/All-Disorders/Leighs-Disease-Information-Page. Accessed 28 Jan 2017

30.

Lee HF, Tsai CR, Chi CS, Lee HJ, Chen CC. Leigh syndrome: clinical and neuroimaging follow up. Pediatr Neurol. 2009;40:88–93. doi:10.1016/j.pediatrneurol.2008.09.020.CrossRefPubMed

31.

Fujii T, Ito M, Miyajima T, Okuno T. Dichloroacetate therapy in Leigh syndrome with a mitochondrial T8993C mutation. Pediatr Neurol. 2002;27:58–61. doi:10.1016/S0887-8994(02)00378-8.CrossRefPubMed

32.

Koga Y, Povalko N, Katayama K, Kakimoto N, Matsuishi T, Naito E, Tanaka M. Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene. Brain Dev. 2012;34:87–91. doi:10.1016/j.braindev.2011.03.003.CrossRefPubMed

33.

Hilz MJ, Moeller S, Buechner S, Czarkowska H, Ayappa I, Axelrod FB, Rapoport DM. Obstructive sleep-disordered breathing is more common than central in mild familial dysautonomia. J Clin Sleep Med. 2016;12:1607–14. doi:10.5664/jcsm.6342.CrossRefPubMedPubMedCentral

34.

Sturm R, Hattori A. Morbid obesity rates continue to rise rapidly in the United States. Int J Obes. 2012;37:889–91. doi:10.1038/ijo.2012.159.CrossRef

35.

Mokhlesi B. Obesity-hypoventilation syndrome. In: Principles and practice of sleep medicine, 6th ed. Elsevier, pp 1189–1199 (2017).

36.

Al Dabal L, BaHammam AS. Obesity hypoventilation syndrome. Annals of Thoracic Medicine. 2009;4:41–9. doi:10.4103/1817-1737.49411.CrossRefPubMedPubMedCentral

37.

•• Howard ME, Piper AJ, Stevens B, et al. A randomised controlled trial of CPAP versus non-invasive ventilation for initial treatment of obesity hypoventilation syndrome. Thorax. 2016; doi:10.1136/thoraxjnl-2016-208559. A randomised controlled trial of CPAP versus non-invasive ventilation for initial treatment of obesity hypoventilation syndrome. This study provides an important update to current best practices as well as providing a guide to best treatment option. CrossRefPubMed

38.

Shah AK, Goldberg WD. Myasthenia gravis. In: Myasthenia gravis: practice essentials, background, anatomy. (2016) http://emedicine.medscape.com/article/1171206-overview. Accessed 28 Jan 2017.

39.

Longo DL. Harrison’s principles of internal medicine, 18th ed. McGraw-Hill, New York. Chapters 387–388 Pages 3487–3517 (2012).

40.

Lai Y-C, Chen J-Y, Wu H-D, Yang C-C, Lin C-H, Lee P-L. Sleep disordered breathing mimicking myasthenia crisis in a patient with myasthenia gravis. J Clin Sleep Med. 2016;12:767–9. doi:10.5664/jcsm.5816.CrossRefPubMedPubMedCentral

41.

Lizarraga K, Benatar M, Lizarraga A. Getting rid of weakness in the ICU: an updated approach to the acute management of myasthenia gravis and Guillain-Barré syndrome. Semin Neurol. 2016;36:615–24. doi:10.1055/s-0036-1592106.CrossRefPubMed

42.

Rabinstein AA. Noninvasive ventilation for neuromuscular respiratory failure. Curr Opin Crit Care. 2016;22:94–9. doi:10.1097/MCC.0000000000000284.CrossRefPubMed

43.

Adıgüzel N, Karakurt Z, Güngör G, Moçin Ö, Balcı M, Saltürk C, Kargın F, Takır HB, Güven A, Yarkın T. Management of kyphoscoliosis patients with respiratory failure in the intensive care unit and during long term follow up. Multidisciplinary Respiratory Medicine. 2012;7:30. doi:10.1186/2049-6958-7-30.CrossRefPubMedPubMedCentral

44.

Nicolini A, Barlascini C, Piroddi I, Garuti G, Banfi P. Effectiveness and safety of mouthpiece ventilation and nocturnal non-invasive ventilation in patients with kyphoscoliosis: short and long-term outcomes after an episode of acute respiratory failure. Revista Portuguesa de Pneumologia (English Edition). 2016;22:75–81. doi:10.1016/j.rppnen.2015.09.009.CrossRef

45.

Marin JOM, Carizzo SJ. Overlap syndromes of sleep and breathing disorders. In: Principles and practices of sleep medicine. 6^th ed. Elsevier, pp 1179–1188. (2017).

46.

Altintas N. Update: non-invasive positive pressure ventilation in chronic respiratory failure due to COPD. COPD: J Chron Obstruct Pulmon Dis. 2015;13:110–21. doi:10.3109/15412555.2015.1043520.CrossRef

47.

Sharma B, Neilan TG, Kwong RY, Mandry D, Owens RL, Mcsharry D, Bakker JP, Malhotra A. Evaluation of right ventricular remodeling using cardiac magnetic resonance imaging in co-existent chronic obstructive pulmonary disease and obstructive sleep apnea. COPD: J Chron Obstruct Pulmon Dis. 2012;10:4–10. doi:10.3109/15412555.2012.719050.CrossRef

48.

Machado M-CL, Vollmer WM, Togeiro SM, Bilderback AL, Oliveira M-VC, Leitao FS, Queiroga F, Lorenzi-Filho G, Krishnan JA. CPAP and survival in moderate-to-severe obstructive sleep apnoea syndrome and hypoxaemic COPD. Eur Respir J. 2009;35:132–7. doi:10.1183/09031936.00192008.CrossRefPubMed

49.

Lancaster LH, Mason WR, Parnell JA, Rice TW, Loyd JE, Milstone AP, Collard HR, Malow BA. Obstructive sleep apnea is common in idiopathic pulmonary fibrosis. Chest. 2009;136:772–8. doi:10.1378/chest.08-2776.CrossRefPubMedPubMedCentral

50.

Milioli G, Bosi M, Poletti V, Tomassetti S, Grassi A, Riccardi S, Terzano MG, Parrino L. Sleep and respiratory sleep disorders in idiopathic pulmonary fibrosis. Sleep Med Rev. 2016;26:57–63. doi:10.1016/j.smrv.2015.03.005.CrossRefPubMed

51.

Serrano-Pariente J, Plaza V, Soriano JB, Mayos M, Lopez-Vina A, Picado C, Vigil L. Asthma outcomes improve with continuous positive airway pressure for obstructive sleep apnea. Allergy. 2016; doi:10.1111/all.13070.CrossRefPubMedPubMedCentral

52.

•• Kauppi P, Bachour P, Maasilta P, Bachour A. Long-term CPAP treatment improves asthma control in patients with asthma and obstructive sleep apnoea. Sleep and Breathing. 2016;20:1217–24. doi:10.1007/s11325-016-1340-1. Long-term CPAP treatment improves asthma control in patients with asthma and obstructive sleep apnoea. This study highlights the effect of sleep apnea on the other disease processes that might have been overlooked otherwise. CrossRefPubMed

Title: Hypoventilation Syndromes
Authors: April Shepherd
Sheila C. Tsai
Publication date: 01-06-2017
Publisher: Springer US
Published in: Current Pulmonology Reports / Issue 2/2017
Electronic ISSN: 2199-2428
DOI: https://doi.org/10.1007/s13665-017-0178-8

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Abstract

Purpose of Review

Recent Findings

Summary

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