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Research Articles

Impact of contractures on daily functioning in adolescents with spinal muscular atrophy: a qualitative study

ORCID Icon, , , &
Pages 2593-2599 | Received 10 Nov 2022, Accepted 18 Jun 2023, Published online: 03 Jul 2023

References

  • Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–165. doi: 10.1016/0092-8674(95)90460-3.
  • Zerres K, Rudnik-Schöneborn S, Forrest E, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci. 1997;146(1):67–72. doi: 10.1016/s0022-510x(96)00284-5.
  • Fujak A, Kopschina C, Gras F, et al. Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortopedia Traumatol Rehabilit. 2011;13(1):27–36. doi: 10.5604/15093492.933792.
  • Wadman RI, Stam M, Gijzen M, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. J Neurol Neurosurg Psychiatry. 2017;88(4):365–367. doi: 10.1136/jnnp-2016-314292.
  • Wijngaarde CA, Veldhoen ES, Van Eijk RPA, et al. Natural history of lung function in spinal muscular atrophy. Orphanet J Rare Dis. 2020;15(1):1–11. doi: 10.1186/s13023-020-01367-y.
  • Pechmann A, Behrens M, Dörnbrack K, et al. Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy. Brain. 2023;146(2):668–677.
  • Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103–115. doi: 10.1016/j.nmd.2017.11.005.
  • Willig TN, Bach JR, Rouffet MJ, et al. Correlation of flexion contractures with upper extremity function and pain for spinal muscular atrophy and congenital myopathy patients. Am J Phys Med Rehabil. 1995;74(1):33–38. doi: 10.1097/00002060-199501000-00006.
  • Salazar R, Montes J, Young SD, et al. Quantitative evaluation of lower extremity joint contractures in spinal muscular atrophy: implications for motor function. Pediatric Phys Ther. 2018;30(3):209–215. Published online doi: 10.1097/PEP.0000000000000515.
  • Hyde SA, Flùytrup I, Glent S, et al. A randomized comparative study of two methods for controlling tendo achilles contracture in duchenne muscular dystrophy. Neuromuscul Disord. 2000;10(4-5):257–263.
  • de Souza MA, Figueiredo MML, de Baptista C, et al. Beneficial effects of ankle-foot orthosis daytime use on the gait of duchenne muscular dystrophy patients. Clin Biomech. 2016;35:102–110. doi: 10.1016/j.clinbiomech.2016.04.005.
  • Vignos PJ, Wagner MB, Karlinchak B, et al. Evaluation of a program for long-term treatment of duchenne muscular dystrophy experience at the university hospitals of cleveland*. J Bone Joint Surg Am. 1996;78(12):1844–1852.
  • Weichbrodt J, Eriksson BM, Kroksmark AK. Evaluation of hand orthoses in duchenne muscular dystrophy. Disabil Rehabil. 2018;40(23):2824–2832. doi: 10.1080/09638288.2017.1347721.
  • Katalinic OM, Harvey LA, Herbert RD. Effectiveness of stretch for the treatment and prevention of contractures in people with neurological conditions: a systematic review. Phys Ther. 2011;91(1):11–24. doi: 10.2522/ptj.20100265.
  • Harvey LA, Katalinic OM, Herbert RD, et al. Stretch for the treatment and prevention of contractures. Cochr Database Syst Rev. 2017;2017(2):CD007455. doi: 10.1002/14651858.CD007455.pub3.
  • Craig J, Hilderman C, Wilson G, et al. Effectiveness of stretch interventions for children with neuromuscular disabilities: evidence-based recommendations. Pediatr Phys Ther. 2016;28(3):262–275. doi: 10.1097/PEP.0000000000000269.
  • Nuckolls GH, Kinnett K, Dayanidhi S, et al. Conference report on contractures in musculoskeletal and neurological conditions. Muscle Nerve. 2020;61(6):740–744. doi: 10.1002/mus.26845.
  • O’Brien BC, Harris IB, Beckman TJ, et al. Standards for reporting qualitative research: a synthesis of recommendations. Acad Med. 2014;89(9):1245–1251. doi: 10.1097/ACM.0000000000000388.
  • Fujak A, Kopschina C, Gras F, et al. Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortop Traumatol Rehabil. 2011;13(1):27–36. doi: 10.5604/15093492.933792.
  • Fischer U, Bartoszek G, Müller M, et al. Patients’ view on health-related aspects of functioning and disability of joint contractures: a qualitative interview study based on the international classification of functioning, disability and health (ICF). Disabil Rehabil. 2014;36(26):2225–2232. doi: 10.3109/09638288.2014.899634.
  • World Health Organisation. International classification of functioning, disability and health ICF. Geneva: WHO; 2001. https://scholar.google.com/scholar_lookup?hl=en&publication_year=2001&author=World+Health+Organisation&title=International+classification+of+functioning%2C+disability+and+health+ICF
  • Braun V, Clarke V. Thematic analysis revised. J Chem Inf Model. 2019;53(9):1689–1699.
  • Fischer MJ, Asselman FL, Kruitwagen-van Reenen ET, et al. Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs. Disabil Rehabil. 2020;42(16):2262–2270. doi: 10.1080/09638288.2018.1555864.
  • Livingstone R, Paleg G. Enhancing function, fun and participation with assistive devices, adaptive positioning, and augmented mobility for young children with Infantile-Onset spinal muscular atrophy: a scoping review and illustrative case report. Disabilities. 2021;1(1):1–22. doi: 10.3390/disabilities1010001.
  • Vorster N, Evans K, Murphy N, et al. Powered standing wheelchairs promote independence, health and community involvement in adolescents with duchenne muscular dystrophy. Neuromuscul Disord. 2019;29(3):221–230. doi: 10.1016/j.nmd.2019.01.010.
  • Bonarrigo K, McGuire M, Dorich J, et al. Use of supported standing in males with duchenne muscular dystrophy: individual and family perspectives. J Pediatr Rehabil Med. 2023. doi: 10.3233/PRM-220026.
  • Townsend EL, Simeone SD, Krosschell KJ, et al. Stander use in spinal muscular atrophy: results from a large natural history database. Pediatr Phys Ther. 2020;32(3):235–241. doi: 10.1097/PEP.0000000000000713.
  • Fujak A, Kopschina C, Forst R, et al. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients. Disabil Rehabil Assist Technol. 2011;6(4):305–311. doi: 10.3109/17483107.2010.525292.
  • Paleg GS, Smith BA, Glickman LB. Systematic review and evidence-based clinical recommendations for dosing of pediatric supported standing programs. Pediatr Phys Ther. 2013;25(3):232–247. doi: 10.1097/PEP.0b013e318299d5e7.