Abstract
The respiratory system is a complex system involving different organs which interact with each other to provide an efficient breathing, adapted to growth and physiological situations such as rest, sleep, and exercise. Prominent among them are the nervous (especially the central nervous system) and the musculoskeletal systems whose malfunction can have profound effects on breathing even when the respiratory system per se is normal and healthy. The following chapter reviews the physiology of breathing with emphasis on the changes that occur during exercise and sleep. In addition it reviews the effects of the failure of the “respiratory pump” due to the various neuromuscular and skeletal disorders as well as the effects of specific genetic disorders on breathing.
Similar content being viewed by others
References
Fauroux B, Pigeot J, Polkey MI, Roger G, Boulé M, Clément A, et al. Chronic stridor caused by laryngomalacia in children. Work of breathing and effects of noninvasive ventilatory assistance. Am J Respir Crit Care Med. 2001;164:1874–8.
Fauroux B, Pigeot J, Isabey D, Harf A, Clément A, Lofaso F. In vivo physiological comparison of two ventilators used for domiciliary ventilation in children with cystic fibrosis. Crit Care Med. 2001;29:2097–105.
Fauroux B, Nicot F, Essouri S, Hart N, Polkey MI, Clément A, Lofaso F. Setting of pressure support in young patients with cystic fibrosis. Eur Resp J. 2004;24:624–30.
Essouri S, Nicot F, Clément A, Garabedian E-N, Roger G, Lofaso F, et al. Noninvasive positive pressure ventilation in infants with upper airway obstruction: comparison of continuous and bilevel positive pressure. Intensive Care Med. 2005;31:574–80.
Hart N, Polkey MI, Clément A, Boulé M, Moxham J, Lofaso F, et al. Changes in pulmonary mechanics with increasing disease severity in children and young adults with cystic fibrosis. Am J Respir Crit Care Med. 2002;166:61–6.
Giovannini-Chami L, Khirani S, Thouvenin G, Ramirez A, Fauroux B. Work of breathing to optimize noninvasive ventilation in bronchiolitis obliterans. Intensive Care Med. 2012;38(4):722.
Khirani S, Ramirez A, Aloui S, Leboulanger N, Picard A, Fauroux B. CPAP titration in infants with severe airway obstruction. Crit Care. 2013;17:R167.
Davis GM, Bureau MA. Pulmonary and chest wall mechanics in the control of respiration in the newborn. Clin Perinatol. 1987;14:551–79.
White JE, Drinnan MJ, Smithson AJ, Griffiths CJ, Gibson GJ. Respiratory muscle activity and oxygenation during sleep in patients with muscle weakness. Eur Respir J. 1995;8:807–14.
Dempsey JA, Veasey SC, Morgan BJ, O'Donnell CP. Pathophysiology of sleep apnea. Physiol Rev. 2010;90:47–112.
Fauroux B, Cordingley J, Hart N, Clément A, Moxham J, Lofaso F, et al. Depression of diaphragm contractility by nitrous oxide in humans. Anesth Analg. 2002;94:340–5.
Fauroux B, Nicot F, Boelle P-Y, Boulé M, Clément A, Lofaso F, et al. Mechanical limitation during CO2 rebreathing in young patients with cystic fibrosis. Respir Physiol Neurobiol. 2006;153:217–25.
Fauroux B, Aubertin G, Clément A, Lofaso F, Bonora M. Which tests may predict the need for noninvasive ventilation in children with neuromuscular disease? Respir Med. 2009;103:574–81.
Poponick JM, Jacobs I, Supinski G, DiMarco AF. Effect of upper respiratory tract infection in patients with neuromuscular disease. Am J Respir Crit Care Med. 1997;156:659–64.
Hart N, Nickol AH, Cramer D, Ward SP, Lofaso F, Pride NB, et al. Effect of severe isolated unilateral and bilateral diaphragm weakness on exercise performance. Am J Respir Crit Care Med. 2002;165:1265–70.
Steier J, Jolley CJ, Seymour J, Kaul S, Luo YM, Rafferty GF, et al. breathing in unilateral diaphragm paralysis or severe weakness. Eur Respir J. 2008;32:1479–87.
Nicot F, Hart N, Forin V, Boulé M, Clément A, Polkey MI, et al. Respiratory muscle testing: a valuable tool for children with neuromuscular disorders. Am J Respir Crit Care Med. 2006;174:67–74.
Khirani S, Ramirez A, Aubertin G, Boulé M, Chemouny C, Forin V, et al. Respiratory muscle decline in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014;49:473–81.
Khirani S, Colella M, Caldarelli V, Aubertin G, Boulé M, Forin V, et al. Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3. Eur J Paediatr Neurol. 2013;17:552–60.
Steier J, Jolley CJ, Seymour J, Teschler H, Luo YM, Polkey MI, et al. Screening for sleep-disordered breathing in neuromuscular disease using a questionnaire for symptoms associated with diaphragm paralysis. Eur Respir J. 2011;37:400–5.
Allamand V, Brinas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. ColVI myopathies: where do we stand, where do we go? Skelet Muscle. 2011;1:30.
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, et al. Diaphragmatic dysfunction in Collagen VI myopathies. Neuromuscul Disord. 2014;24:125–33.
Girbal IC, Gonçalves C, Nunes T, Ferreira R, Pereira L, Saianda A, et al. Non-invasive ventilation in complex obstructive sleep apnea: a 15 year experience of a pediatric tertiary center. Rev Port Pneumol. 2014;20:146–51.
Amaddeo A, Caldarelli V, Fernandez-Bolanos M, Moreau J, Ramirez A, Khirani S, et al. Polygraphic respiratory events during sleep in children treated with home continuous positive airway pressure: description and clinical consequences. Sleep Med. 2015;16:107–12.
Guillemot N, Troadec C, de Villemeur TB, Clément A, Fauroux B. Lung disease in Niemann-Pick disease. Pediatr Pulmonol. 2007;42:1207–14.
Bourke SC, Gibson GJ. Sleep and breathing in neuromuscular diseases. Eur Resp J. 2002;19:1194–201.
Griffon L, Amaddeo A, Mortamet G, Barnerias C, Abadie V, Olmo Arroyo J, et al. Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU. J Crit Care. 2016;42:317–23.
Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97:129–34.
Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14:10–26.
Katz SL, Gaboury I, Keilty K, Banwell B, Vajsar J, Anderson P, et al. Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease. Arch Dis Child. 2010;95:998–1003.
Lal C, White DR, Joseph JE, van Bakergem K, LaRosa A. Sleep-disordered breathing in Down syndrome. Chest. 2015;147:570–9.
Bersanini C, Khirani S, Ramirez A, Lofaso F, Aubertin G, Beydon N, et al. Nocturnal hypoxemia and hypercapnia in children with neuromuscular disorders. Eur Respir J. 2012;39:1206–12.
Rutkowski A, Chatwin M, Koumbourlis A, Fauroux B, Simonds A, Consortium CRP. 203rd ENMC international workshop: respiratory pathophysiology in congenital muscle disorders: implications for pro-active care and clinical research 13-15 December, 2013, Naarden, The Netherlands. Neuromuscul Disord. 2015;25:353–8.
Amaddeo A, Moreau J, Frapin A, Khirani S, Felix O, Fernandez-Bolanos M, et al. Long term continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) in children: initiation criteria in real life. Pediatr Pulmonol. 2016;51(9):968–74.
Fauroux B, Quijano-Roy S, Desguerre I, Khirani S. The value of respiratory muscle testing in children with neuromuscular disease. Chest. 2015;147:552–9.
Stefanutti D, Fitting JW. Sniff nasal inspiratory pressure. Reference values in Caucasian children. Am J Respir Crit Care Med. 1998;159:107–11.
Fauroux B, Aubertin G, Cohen E, Clément A, Lofaso F. Sniff nasal inspiratory pressure in children with muscular, chest wall or lung disease. Eur Respir J. 2009;33:113–7.
Aloui S, Khirani S, Ramirez A, Colella M, Louis B, Amaddeo A, et al. Whistle and cough pressures in children with neuromuscular disorders. Respir Med. 2016;113:28–36.
Hart N, Tounian P, Clément A, Boulé M, Polkey MI, Lofaso F, et al. Nutritional status is an important predictor of diaphragm strength in young patients with cystic fibrosis. Am J Clin Nutr. 2004;80:1201–6.
Chatwin M, Ross E, Hart N, Nickol AH, Polkey MI, Simonds AK. Cough augmentation with mechanical insufflation/exsufflation in patients with neuromuscular weakness. Eur Respir J. 2003;21:502–8.
Fauroux B, Guillemot N, Aubertin G, Nathan N, Labit A, Clément A, et al. Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases. Chest. 2008;133:161–8.
Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60:1019–24.
Chatwin M, Bush A, Simonds AK. Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I. Arch Dis Child. 2011;96:426–32.
Khirani S, Bersanini C, Aubertin G, Bachy M, Vialle R, Fauroux B. Noninvasive positive pressure ventilation to facilitate the post operative respiratory outcome of spine surgery in neuromuscular children. Eur J Spine Surg. 2014;23(Suppl 4):S406–S11.
Rabec C, Emeriaud G, Amaddeo A, Fauroux B, Georges M. New modes in non-invasive ventilation. Paediatr Respir Rev. 2016;18:73–84.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2018 Springer International Publishing AG
About this chapter
Cite this chapter
Amaddeo, A., Khirani, S., Fauroux, B. (2018). Pulmonary Complications of Neuromuscular and Other Genetic Disorders. In: Koumbourlis, A., Nevin, M. (eds) Pulmonary Complications of Non-Pulmonary Pediatric Disorders. Respiratory Medicine. Humana Press, Cham. https://doi.org/10.1007/978-3-319-69620-1_7
Download citation
DOI: https://doi.org/10.1007/978-3-319-69620-1_7
Published:
Publisher Name: Humana Press, Cham
Print ISBN: 978-3-319-69619-5
Online ISBN: 978-3-319-69620-1
eBook Packages: MedicineMedicine (R0)