Section 8: Muscular dystrophies and home ventilation

References

• Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93.
   PubMed Web of Science ®Google Scholar
• Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve. 1981;4(2):155–164.
   Google Scholar
• Inkley SR, Oldenburg FC, Vignos PJ. Jr., Pulmonary function in Duchenne muscular dystrophy related to stage of disease. Am J Med. 1974;56(3):297–306. Mar
   PubMed Web of Science ®Google Scholar
• McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1995;74(5 Suppl):S70–S92.
   PubMedGoogle Scholar
• Gayraud J, Ramonatxo M, Rivier F, et al. Ventilatory parameters and maximal respiratory pressure changes with age in Duchenne muscular dystrophy patients. Pediatr Pulmonol. 2010;45(6):552–559.
   PubMed Web of Science ®Google Scholar
• Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2001;164(12):2191–2194.
   Web of Science ®Google Scholar
• Khirani S, Ramirez A, Aubertin G, et al. Respiratory muscle decline in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014;49(5):473–481.
   PubMed Web of Science ®Google Scholar
• Mayer OH, Finkel RS, Rummey C, et al. Characterization of pulmonary function in Duchenne Muscular Dystrophy. Pediatr Pulmonol. 2015;50(5):487–494.
   Google Scholar
• Smith PE, Edwards RH, Calverley PM. Ventilation and breathing pattern during sleep in Duchenne muscular dystrophy. Chest. 1989;96(6):1346–1351.
   PubMed Web of Science ®Google Scholar
• Phillips MF, Smith PE, Carroll N, Edwards RH, Calverley PM. Nocturnal oxygenation and prognosis in Duchenne muscular dystrophy. Am J Respir Crit Care Med. 1999;160(1):198–202.
   Google Scholar
• Vianello A, Bevilacqua M, Salvador V, et al. Long-term nasal intermittent positive pressure ventilation in advanced Duchenne's muscular dystrophy. Chest. 1994;105(2):445–448.
   Google Scholar
• Moxley RT, 3rd, Pandya S, Ciafaloni E, et al. Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment: implications for management. J Child Neurol. 2010;25(9):1116–1129.
   PubMed Web of Science ®Google Scholar
• Sawnani H, Thampratankul L, Szczesniak RD, et al . Sleep disordered breathing in young boys with Duchenne muscular dystrophy. J Pediatr. 2015;166(3):640–645.e641.
   PubMed Web of Science ®Google Scholar
• Geranmayeh F, Clement E, Feng LH, et al. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromusc Disord. 2010;20(4):241–250.
   PubMed Web of Science ®Google Scholar
• Nadeau A, Kinali M, Main M, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009;73(1):25–31.
   Google Scholar
• Foley AR, Quijano-Roy S, Collins J, et al. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013;136(Pt 12):3625–3633.
   PubMedGoogle Scholar
• Quijano-Roy S, Khirani S, Colella M, et al. Diaphragmatic dysfunction in Collagen VI myopathies. Neuromusc Disord. 2014;24(2):125–133.
   Google Scholar
• Yonekawa T, Komaki H, Okada M, et al. Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. J Neurol Neurosurg Psychiatry. 2013;84(9):982–988.
   Google Scholar
• Pane M, Messina S, Vasco G, et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromusc Disord. 2012;22(8):685–689.
   PubMed Web of Science ®Google Scholar
• Schara U, Kress W, Bonnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008;12(3):224–230.
   Google Scholar
• Wohlgemuth M, van der Kooi EL, van Kesteren RG, et al. Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology. 2004;63(1):176–178.
   Google Scholar
• Stubgen JP, Ras GJ, Schultz CM, Crowther G. Lung and respiratory muscle function in limb girdle muscular dystrophy. Thorax. 1994;49(1):61–65.
   Google Scholar
• Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9(2):177–189.
   PubMed Web of Science ®Google Scholar
• Finder JD, Birnkrant D, Carl J, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170(4):456–465.
   PubMed Web of Science ®Google Scholar
• Hull J, Aniapravan R, Chan E, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 2012;67(7):654–640.
   Google Scholar
• Raphael JC, Chevret S, Chastang C, Bouvet F. Randomised trial of preventive nasal ventilation in Duchenne muscular dystrophy. French Multicentre Cooperative Group on Home Mechanical Ventilation Assistance in Duchenne de Boulogne Muscular Dystrophy. Lancet. 1994;343(8913):1600–1604.
   PubMed Web of Science ®Google Scholar
• Toussaint M, Chatwin M, Soudon P. Mechanical ventilation in Duchenne patients with chronic respiratory insufficiency: clinical implications of 20 years published experience. Chron Respir Dis. 2007;4(3):167–177.
   Google Scholar
• McKim DA, Road J, Avendano M, et al. Home mechanical ventilation: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2011;18(4):197–215.
   PubMed Web of Science ®Google Scholar
• 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(12):1019–1024.
   PubMed Web of Science ®Google Scholar
• Eagle M, Baudouin SV, Chandler C, et al. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromusc Disord. 2002;12(10):926–929.
   PubMed Web of Science ®Google Scholar
• Ishikawa Y, Miura T, Ishikawa Y, et al. Duchenne muscular dystrophy: survival by cardio-respiratory interventions. Neuromusc Disord. 2011;21(1):47–51.
   PubMed Web of Science ®Google Scholar
• Passamano L, Taglia A, Palladino A, et al. Improvement of survival in Duchenne muscular dystrophy: retrospective analysis of 835 patients. Acta Myol. 2012;31(2):121–125.
   PubMedGoogle Scholar
• Rall S, Grimm T. Survival in Duchenne muscular dystrophy. Acta Myol. 2012;31(2):117–120.
   Google Scholar
• Mellies U, Ragette R, Dohna Schwake C, et al. Long-term noninvasive ventilation in children and adolescents with neuromuscular disorders. Eur Respir J. 2003;22(4):631–636.
   Google Scholar
• Kohler M, Clarenbach CF, Boni L, et al. Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2005;172(8):1032–1036.
   PubMed Web of Science ®Google Scholar
• Simonds AK, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax. 1998;53(11):949–952.
   PubMed Web of Science ®Google Scholar
• Bach JR, Campagnolo DI, Hoeman S. Life satisfaction of individuals with Duchenne muscular dystrophy using long-term mechanical ventilatory support. Am J Phys Med Rehabil. 1991;70(3):129–135.
   Google Scholar
• Windisch W, Freidel K, Schucher B, et al. Evaluation of health-related quality of life using the MOS 36-item short-form health status survey in patients receiving noninvasive positive pressure ventilation. Intens Care Med. 2003;29(4):615–621.
   Google Scholar
• Dreyer PS, Steffensen BF, Pedersen BD. Living with severe physical impairment, Duchenne's muscular dystrophy and home mechanical ventilation. Int J Qual Stud Health Well-Being.2010;5(3):5388.
   PubMed Web of Science ®Google Scholar
• Bach JR, Alba AS, Saporito LR. Intermittent positive pressure ventilation via the mouth as an alternative to tracheostomy for 257 ventilator users. Chest. 1993;103(1):174–182.
   Google Scholar
• McKim DA, Griller N, LeBlanc C, Woolnough A, King J. Twenty-four hour noninvasive ventilation in Duchenne muscular dystrophy: a safe alternative to tracheostomy. Can Respir J. 2013;20(1):e5–e9.
   PubMed Web of Science ®Google Scholar
• Toussaint M, Steens M, Wasteels G, Soudon P. Diurnal ventilation via mouthpiece: survival in end-stage Duchenne patients. Eur Respir J. 2006;28(3):549–555.
   PubMed Web of Science ®Google Scholar
• Villanova M, Brancalion B, Mehta AD. Duchenne muscular dystrophy: life prolongation by noninvasive ventilatory support. Am J Phys Med Rehabil. 2014;93(7):595–599.
   Google Scholar
• Soudon P, Steens M, Toussaint M. A comparison of invasive versus noninvasive full-time mechanical ventilation in Duchenne muscular dystrophy. Chron Respir Dis. 2008;5(2):87–93.
   Google Scholar
• Suresh S, Wales P, Dakin C, Harris MA, Cooper DG. Sleep-related breathing disorder in Duchenne muscular dystrophy: disease spectrum in the paediatric population. J Paediatr Child Health. 2005;41(9-10):500–503.
   PubMed Web of Science ®Google Scholar
• Katz SL, Gaboury I, Keilty K, et al. Nocturnal hypoventilation: predictors and outcomes in childhood progressive neuromuscular disease. Arch Dis Child. 2010;95(12):998–1003.
   Google Scholar
• Toussaint M, Steens M, Soudon P. Lung function accurately predicts hypercapnia in patients with Duchenne muscular dystrophy. Chest. 2007;131(2):368–375.
   PubMed Web of Science ®Google Scholar
• Laub M, Berg S, Midgren B. Symptoms, clinical and physiological findings motivating home mechanical ventilation in patients with neuromuscular diseases. J Rehabil Med. 2006;38(4):250–254.
   Google Scholar
• Lyager S, Steffensen B, Juhl B . Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy. Chest. 1995;108(3):779–785.
   Google Scholar
• Canny GJ, Szeinberg A, Koreska J, Levison H. Hypercapnia in relation to pulmonary function in Duchenne muscular dystrophy. Pediatr Pulmonol. 1989;6(3):169–171.
   Google Scholar
• Bersanini C, Khirani S, Ramirez A, et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders. Eur Respir J. 2012;39(5):1206–1212.
   PubMed Web of Science ®Google Scholar
• Ragette R, Mellies U, Schwake C, Voit T, Teschler H. Patterns and predictors of sleep-disordered breathing in primary myopathies. Thorax. 2002;57(8):724–728.
   PubMed Web of Science ®Google Scholar
• Mellies U, Ragette R, Schwake C, et al. Daytime predictors of sleep-disordered breathing in children and adolescents with neuromuscular disorders. Neuromusc Disord. 2003;13(2):123–128.
   PubMed Web of Science ®Google Scholar
• Hukins CA, Hillman DR. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2000;161(1):166–170.
   PubMed Web of Science ®Google Scholar
• Anderson VB, McKenzie JA, Seton C, et al. Sniff nasal inspiratory pressure and sleep-disordered breathing in childhood neuromuscular disorders. Neuromusc Disord. 2012;22(6):528–533.
   Google Scholar
• Katz SL, Witmans M, Barrowman N, et al. Paediatric sleep resources in Canada: The scope of the problem. Paediatr Child Health. 2014;19(7):367–372.
   Web of Science ®Google Scholar
• Katz SL, McKim D, Hoey L, et al. Respiratory management strategies for Duchenne muscular dystrophy: practice variation amongst Canadian sub-specialists. Pediatr Pulmonol. 2013;48(1):59–66.
   Google Scholar
• Jeppesen J, Green A, Steffensen BF, Rahbek J. The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use. Neuromusc Disord. 2003;13(10):804–812.
   Google Scholar
• Mohr CH, Hill NS. Long-term follow-up of nocturnal ventilatory assistance in patients with respiratory failure due to Duchenne-type muscular dystrophy. Chest. 1990;97(1):91–96.
   Google Scholar
• Kohler M, Clarenbach CF, Bahler C, et al. Disability and survival in Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry. 2009;80(3):320–325.
   PubMed Web of Science ®Google Scholar