Motor |
Joint mobility |
Goniometry – goniometer (range of motion) |
1111. McDonald CM, Henricson EK, Abresch RT, Han JJ, Escolar DM, Florence JM et al. The cooperative international neuromuscular research group Duchenne natural history study: a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve. 2013 Jul;48(1):32-54. https://doi.org/10.1002/mus.23807
https://doi.org/10.1002/mus.23807...
(B) |
Muscle strength |
Manual: Medical Research Council |
1111. McDonald CM, Henricson EK, Abresch RT, Han JJ, Escolar DM, Florence JM et al. The cooperative international neuromuscular research group Duchenne natural history study: a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve. 2013 Jul;48(1):32-54. https://doi.org/10.1002/mus.23807
https://doi.org/10.1002/mus.23807...
(B) |
Equipment – myometer (muscle strength) |
Functional ability |
Motor Function Measure for ambulant/non-ambulant patients |
|
equipment: mat, chair and adjustable height table, stopwatch, tennis ball, CD; space to walk 6m; |
1212. Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Bérard C et al. Responsiveness of the motor function measure in neuromuscular diseases. Arch Phys Med Rehabil. 2012 Dec;93(12):2251-6.e1. https://doi.org/10.1016/j.apmr.2012.05.025
https://doi.org/10.1016/j.apmr.2012.05.0...
(B) |
North Star Ambulatory Assessment for ambulant patients only |
|
equipment: mat, 15cm high box step, chair, space to walk 10 m. |
1313. De Sanctis R, Pane M, Sivo S, Ricotti V, Baranello G, Frosini S et al. Suitability of North Star Ambulatory assessment in young boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2015 Jan;25(1):14-8. https://doi.org/10.1016/j.nmd.2014.09.015
https://doi.org/10.1016/j.nmd.2014.09.01...
(B) |
Performance of the upper limb scale for ambulant/non-ambulant patients |
|
equipment: chair and adjustable height table, metric weights (5g,10g,50g,100g, 200g, 500g and 1000g); 6 coins; plastic cup; Ziploc container; Osram dot-it push light button; 5 empty (light) and filled (heavy) cans; plastic tablecloth marked with circles). |
1414. Mayhew A, Mazzone ES, Eagle M, Duong T, Ash M, Decostre V et al. Development of the performance of the upper limb module for Duchenne muscular dystrophy. Dev Med Child Neurol. 2013 Nov;55(11):1038-45. https://doi.org/10.1111/dmcn.12213
https://doi.org/10.1111/dmcn.12213...
(B) |
Timed tests |
Time to get up from the floor |
1515. Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D’Amico A et al. Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: an observational study. PLoS One. 2016 Mar;11(3):e0151445. https://doi.org/10.1371/journal.pone.0151445
https://doi.org/10.1371/journal.pone.015...
,1616. Pereira AC, Ribeiro MG, Araújo AP. Timed motor function tests capacity in healthy children. Arch Dis Child. 2016 Feb;101(2):147-51. https://doi.org/10.1136/archdischild-2014-307396
https://doi.org/10.1136/archdischild-201...
,1717. Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014;36(22):1918-23. https://doi.org/10.3109/09638288.2014.883444
https://doi.org/10.3109/09638288.2014.88...
(B) |
Time to walk 10 meters |
|
6 Minute walking test - space requirement of 25 m |
|
Time for steps up and down |
|
equipment: 4 standard stairs with handrails. |
|
Independence scales |
Barthel index |
1818. Péntek M, Herczegfalvi A, Molnár MJ, Szonyi LP, Kosztolányi G, Pfliegler G et al. Disease burden of Duchenne muscular dystrophy patients and their caregivers. Ideggyogy Sz. 2016 Mar 30;69(5-6):183-93. (B) |
Egen Klassifikation Scale |
1919. Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, et al. Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. Muscle Nerve. 2015 Apr;51(4):522-32. https://doi.org/10.1002/mus.24346
https://doi.org/10.1002/mus.24346...
(B) |
Quality of life |
Pediatric Quality of Life Inventory |
2020. Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K et al. Health-related quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics. 2012 Dec;130(6):e1559-66. https://doi.org/10.1542/peds.2012-0858
https://doi.org/10.1542/peds.2012-0858...
(B) |
International classification of functioning disability and health: children and youth version |
1717. Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014;36(22):1918-23. https://doi.org/10.3109/09638288.2014.883444
https://doi.org/10.3109/09638288.2014.88...
(B) |
Respiratory |
Hypoventilation (inspiratory muscle weakness) |
Sniff nasal inspiratory pressure |
3232. Holick MF, Binkley NC, Bischoff-Ferrari HA, Gordon CM, Hanley DA, Heaney RP. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2011 Jul;96(7):1911-30. https://doi.org/10.1210/jc.2011-0385
https://doi.org/10.1210/jc.2011-0385...
(B) |
Forced vital capacity |
2121. Khirani S, Ramirez A, Aubertin G, Boulé M, Chemouny C, Forin V et al. Respiratory muscle decline in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014 May;49(5):473-81. https://doi.org/10.1002/ppul.22847
https://doi.org/10.1002/ppul.22847...
(C) |
Maximal Inspiratory/Expiratory Pressure |
|
Night oximetry |
2222. Bersanini C, Khirani S, Ramirez A, Lofaso F, Aubertin G, Beydon N, et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders. Eur Respir J. 2012 May;39(5):1206-12. https://doi.org/10.1183/09031936.00087511
https://doi.org/10.1183/09031936.0008751...
(C) |
Capnography |
|
Cough (expiratory muscle weakness) |
Peak flow |
2323. LoMauro A, Romei M, D’Angelo MG, Aliverti A. Determinants of cough efficiency in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014 Apr;49(4):357-65. https://doi.org/10.1002/ppul.22836
https://doi.org/10.1002/ppul.22836...
(C) |
Orthopedic |
Imaging – panoramic X-ray, Dual energy x-ray absorptiometry scan |
2424. Buckner JL, Bowden SA, Mahan JD. Optimizing bone health in Duchenne muscular dystrophy. Int J Endocrinol. 2015;2015:928385. https://doi.org/10.1155/2015/928385PMID:26124831
https://doi.org/10.1155/2015/928385PMID:...
(D) |
Psychosocial |
Cognitive neuropsychological assessment |
Wechsler tests (WISC-III/WISC-IV, WPPSI-III or WPPSI-IV; and Kaufman |
2525. Sarrazin E, Hagen M, Schara U, Au K, Kaindl AM. Growth and psychomotor development of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2014;18(1):38-44. https://doi.org/10.1016/j.ejpn.2013.08.008
https://doi.org/10.1016/j.ejpn.2013.08.0...
,2626. Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct;30(11):1472-82. https://doi.org/10.1177/0883073815570154
https://doi.org/10.1177/0883073815570154...
,2727. Astrea G, Pecini C, Gasperini F, Brisca G, Scutifero M, Bruno C et al. Reading impairment in Duchenne muscular dystrophy: a pilot study to investigate similarities and differences with developmental dyslexia. Res Dev Disabil. 2015;45-46:168-77. https://doi.org/10.1016/j.ridd.2015.07.025
https://doi.org/10.1016/j.ridd.2015.07.0...
,2828. Milic Rasic V, Vojinovic D, Pesovic J, Mijalkovic G, Lukic V, Mladenovic J et al. Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location. Balkan J Med Genet. 2015 Apr;17(2):25-35. (B) |
Standford-Binet |
|
Raven’s Matrices |
|
Brunet-Lezine and Vineland-Doll battery tests |
|
Medical cognitive assessment |
Mental function examination, necessity for special education |
2929. Mirski KT, Crawford TO. Motor and cognitive delay in Duchenne muscular dystrophy: Implication for early diagnosis. J Pediatr. 2014;165(5):1008-10. (B) |
Mini-Mental State Examination |