Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3

European Journal of Paediatric Neurology

Volumn 17, Issue 6, 2013, Pages 552-560

  Khirani, Sonia ^a,b   Colella, Marina ^c   Caldarelli, Valeria ^d   Aubertin, Guillaume ^b   Boulé, Michèle ^b   Forin, Véronique ^b   Ramirez, Adriana ^b,e   Fauroux, Brigitte ^b,f,g  

^a S2A Santé   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c G GASLINI INSTITUTE   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e ADEP Assistance   (France)

^f SORBONNE UNIVERSITÉ   (France)

^g INSERM U955   (France)

Author keywords

Diaphragm; Lung function; Respiratory muscles; Sniff nasal inspiratory pressure; Spinal muscular atrophy; Vital capacity

Indexed keywords

ADOLESCENT; ARTICLE; BLOOD GAS; BREATHING MECHANICS; BREATHING MUSCLE; CHILD; CLINICAL ARTICLE; FEMALE; FOLLOW UP; FORCED VITAL CAPACITY; HUMAN; LUNG FUNCTION; MALE; MUSCLE STRENGTH; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY TRACT PARAMETERS; SCHOOL CHILD; SNIFF NASAL INSPIRATORY PRESSURE; SPINAL MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY TYPE 2; SPINAL MUSCULAR ATROPHY TYPE 3;

DIAPHRAGM; LUNG FUNCTION; RESPIRATORY MUSCLES; SNIFF NASAL INSPIRATORY PRESSURE; SPINAL MUSCULAR ATROPHY; VITAL CAPACITY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INTERMITTENT POSITIVE-PRESSURE BREATHING; LONGITUDINAL STUDIES; LUNG DISEASES; MALE; MUSCLE STRENGTH; RESPIRATORY MUSCLES; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; VITAL CAPACITY; YOUNG ADULT;

EID: 84887998013     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2013.04.004     Document Type: Article

References (51)

1. M.R. Lunn, and C.H. Wang Spinal muscular atrophy Lancet 371 2008 2120 2133
2. T.L. Munsat International SMA Collaboration Neuromuscul Disord 1 1991 81
3. S. Rudnik-Schoneborn, I. Hausmanowa-Petrusewicz, J. Borkowska, and K. Zerres The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III Eur Neurol 45 3 2001 174 181
4. B.S. Russman Spinal muscular atrophy: clinical classification and disease heterogeneity J Child Neurol 22 2007 946 951
5. K. Zerres, and S. Rudnik-Schoneborn Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications Arch Neurol 52 1995 518 523
6. V. Dubowitz Chaos in classification of spinal muscular atrophies of childhood Neuromusc Disord 1 1991 77 80
7. M.K. Schroth Special considerations in the respiratory management of spinal muscular atrophy Pediatrics 123 2009 S245
8. F. Nicot, N. Hart, and V. Forin Respiratory muscle testing: a valuable tool for children with neuromuscular disorders Am J Respir Crit Care Med 174 2006 67 74
9. D. Gozal Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy Pediatr Pulmonol 29 2000 141 150
10. G.T. Carter, R.T. Abresch, and W.M.J. Fowler Profiles of neuromuscular diseases. Spinal muscular atrophy Am J Phys Med Rehabil 74 5 Suppl. 1995 S150 159
11. C. Ioos, D. Leclair-Richard, S. Mrad, A. Barois, and B. Estournet-Mathiaud Respiratory capacity course in patients with infantile spinal muscular atrophy Chest 126 2004 831 837
12. U. Werlauff, B.F. Steffensen, and S. Bertelsen Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients Neuromusc Disord 20 1 2010 34 43
13. B.F. Steffensen, S. Lyager, B. Werge, J. Rahbek, and E. Mattsson Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study Developmental Med & Child Neurol 44 2002 623 632
14. S.T. Iannacone, B.S. Russman, and R.H. Browne Prospective analysis of strength in spinal muscular atrophy. DCN/Spinal Muscular Atrophy Group J Child Neurol 15 2000 97 101
15. S.T. Iannaccone American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group. Outcome measures for pediatric spinal muscular atrophy Arch Neurol 59 9 2002 1445 1450
16. A. Barois, M. Mayer, and I. Desguerre Spinal muscular atrophy: a 4-year prospective, multicenter, longitudinal study (168 cases) Bull Acad Natl Med 189 6 2005 1181 1198
17. P. Kaufmann, M.P. McDermott, B.T. Darras The Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy Observational study of spinal muscular atrophy type 2 and 3 functional outcomes over 1 year For the Muscle Study Group Arch Neurol 68 6 2011 779 786
18. B. Fauroux, G. Aubertin, and E. Cohen Sniff nasal inspiratory pressure in children with muscular, chest wall or lung disease Eur Resp J 33 2009 113 117
19. S. Lefebvre, L. Burglen, and S. Reboullet Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1 1995 155 165
20. V. Dubowitz Chaos in classification of the spinal muscular atrophies: a possible resolution Neuromusc Disord 5 1995 3 5
21. T.L. Munsat, and K.S. Davies International SMA consortium meeting (26-28 June 92, Bonn, Germany) Neuromusc Disord 2 1992 423 428
22. B.E. Johnson, and H.D. Westgate Methods of predicting vital capacity in patients with thoracic scoliosis J Bone Joint Surg 52 1970 1433 1439
23. F. Miller, and J. Koreska Height measurement of patients with neuromuscular disease and contractures Development Med Child Neurol 34 1992 55 60
24. K. Yang, and M.J. Tobin A prospective study of indexes predicting the outcome of trials of weaning from mechanical ventilation N Engl J Med 324 1991 1445 1450
25. T. Vassilakopoulos, S. Zakynthinos, and C. Roussos The tension-time index and the frequency/tidal volume ratio are the major pathophysiologic determinants of weaning failure and success Am J Respir Crit Care Med 158 1998 378 385
26. C. Gaultier, M. Boulé, and Y. Allaire Determination of capillary oxygen tension in infants and children: assessment of methodology and normal values during growth Bull Europ Physiopath Resp 14 1978 287 294
27. F. Lofaso, F. Nicot, and M. Lejaille Sniff nasal inspiratory pressure: what is the optimal number of sniffs? Eur Resp J 27 2006 980 982
28. S.H. Wilson, N.T. Cooke, R.H.T. Edwards, and S.G. Spiro Predicted normal values for maximal respiratory pressures in Caucasian adults and children Thorax 39 1984 535 538
29. A. Baydur, P.K. Behrakis, W.A. Zin, M.J. Jaeger, and J.A. Milic-Emili simple method for assessing the validity of the esophageal balloon technique Am Rev Respir Dis 126 1982 788 791
30. R. Gilbert, J.H. Auchincloss, and D. Peppi Relationship of rib cage and abdomen motion to diaphragm function during quiet breathing Chest 80 1981 607 611
31. S. Field, A. Grassino, and S. Sanci Respiratory muscle oxygen consumption estimated by the diaphragm pressure-time index J Appl Physiol 57 1984 44 51
32. N. Hart, M.I. Polkey, and A. Clément Changes in pulmonary mechanics with increasing disease severity in children and young adults with cystic fibrosis Am J Respir Crit Care Med 166 2002 61 66
33. W.D.C. Man, D. Kyroussis, and T.A. Fleming Cough gastric pressure and maximum expiratory mouth pressure in humans Am J Respir Crit Care Med 168 2003 714 717
34. F. Bellemare, and A. Grassino Effect of pressure and timing of contraction on human diaphragm fatigue J Appl Physiol 53 1982 1190 1195
35. M.F. Phillips, R.C.M. Quinlivan, R.H.T. Edwards, and P.M.A. Calverley Changes in spirometry over time as a prognosis marker in patients with Duchenne muscular dystrophy Am J Respir Crit Care Med 164 2001 2191 2194
36. M. Chatwin, A. Bush, and A.K. Simonds Outcome of goal-directed non-invasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I Arch Dis Child 96 5 2011 426 432
37. C. Dohna-Schwake, R. Ragette, H. Teschler, T. Voit, and U. Mellies Predictors of severe chest infections in pediatric neuromuscular disorders Neuromuscul Disord 16 2006 325 328
38. U. Mellies, R. Ragette, and C. Schwake Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders Neuromuscul Disord 13 2003 123 128
39. C. Bersanini, S. Khirani, and A. Ramirez Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders Eur Resp J 39 2012 1 7
40. M. Estenne, P.A. Gevenois, and W. Kinnear Lung volume restriction in patients with chronic respiratory muscle weakness: the role of microatelectasis Thorax 48 1993 698 701
41. A. Barois, B. Estournet, G. Duval-Beaupere, J. Bataille, and D. Leclair-Richard Amyotrophie spinale infantile Rev Neurol (Paris) 145 1989 299 304
42. A. Barois, and B. Estournet-Mathiaud Nasal ventilation in congenital myopathies and spinal muscular atrophies Eur Respir J 3 1993 275 278
43. V.H. Hoeppner, D.W. Cockcroft, J.A. Dosman, and D.J. Cotton Nighttime ventilation improves respiratory failure in secondary kyphoscoliosis Am Rev Respir Dis 129 1984 240 243
44. R. Sinha, and E.G. Bergofsky Prolonged alteration of lung mechanics in kyphoscoliosis by positive hyperinflation Am Rev Respir Dis 106 1972 47 57
45. S.Y. Chng, Y.Q. Wong, and J.H. Hui Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III J Paediatr Child Health 39 9 2003 673 676
46. D. Robinson, C.S.B. Galasko, C. Delaney, J.B. Williamson, and J.L. Barrie Scoliosis and lung function in spinal muscular atrophy Eur Spine J 4 1995 268 273
47. C. Granata, S. Cervellati, A. Ballestrazzi, M. Corbascio, and L. Merlini Spinal surgery in spinal muscular atrophy: long term results Neuromusc Disord 3 1993 207 215
48. J.C. Brown, J.L. Zeller, S.M. Swank, J. Furumasu, and S.L. Warath Surgical and functional results of spine fusion in spinal muscular atrophy Spine 14 1989 763 770
49. L. Merlini, C. Granata, and S. Bonfiglioli Scoliosis in spinal muscular atrophy: natural history and management Development Med Child Neurol 31 1989 501 508
50. J.O. Piasecki, S. Mahinpour, and D.B. Levine Long-term follow-up of spinal fusion in spinal muscular atrophy Clin Orthop 207 1986 44 54
51. F. Miller, C.F. Moseley, J. Koreska, and H. Levison Pulmonary function and scoliosis in Duchenne muscular dystrophy J Pediatr Orthop 8 1988 133 137