Adherence to guides and consensus for people with spinal muscular atrophy type 1: clinical practice of motor physiotherapy

Authors

DOI:

https://doi.org/10.11606/issn.2317-0190.v31i2a222349

Keywords:

Spinal Muscular Atrophy, Physiotherapy, Clinical Practice, Guides, Consensus

Abstract

Objective: To investigate adherence in the clinical practice of motor physiotherapy to consensuses and guides for people with SMA type 1. Method: This is a quantitative cross-sectional exploratory study carried out with 59 Brazilian physiotherapists with experience in caring for patients with SMA type 1, from the application of a quantitative questionnaire prepared by the authors. Sample characterization data and responses to care are presented using absolute and relative frequency. Percentage adherence was obtained by calculating the number of adherence responses, divided by the total number of physiotherapists and multiplied by 100. Subsequently, stratification was carried out into weak, moderate, strong and very strong adherence. Results: The responses about assessment, objectives and conduct indicated strong or very strong adherence, from more than 69.49% of professionals, but regarding the use of some types of scales, orthoses and equipment, adherence was lower. Conclusion: Physiotherapists strongly adhere to consensus recommendations and guides specifically for assessment, goal development and therapeutic approaches. However, it is still necessary to understand why there was less adherence to recommendations related to the choice of motor scales, types of orthoses and equipment.

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References

Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-49. Doi: https://doi.org/10.1177/0883073807305788

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017;12(1):124. Doi: https://doi.org/10.1186/s13023-017-0671-8

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-65. Doi: https://doi.org/10.1016/0092-8674(95)90460-3

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, 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: https://doi.org/10.1016/j.nmd.2017.11.005

Belter L, Cruz R, Jarecki J. Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey. Orphanet J Rare Dis. 2020;15(1):217. Doi: https://doi.org/10.1186/s13023-020-01498-2

Keinath MC, Prior DE, Prior TW. Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance. Appl Clin Genet. 2021;14:11-25. Doi: https://doi.org/10.2147/TACG.S239603

Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N. Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next. Annu Rev Genomics Hum Genet. 2020;21:231-261. Doi: https://doi.org/10.1146/annurev-genom-102319-103602

Sociedade Brasileira de Genética Médica e Genômica/Academia Brasileira de Neurologia. Atrofia Muscular Espinhal (AME) – Diagnóstico e Aconselhamento Genético. São Paulo: AMB; 2021.

Tassie B, Isaacs D, Kilham H, Kerridge I. Management of children with spinal muscular atrophy type 1 in Australia. J Paediatr Child Health. 2013;49(10):815-9. Doi: https://doi.org/10.1111/jpc.12291

Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11(5):443-52. Doi: https://doi.org/10.1016/S1474-4422(12)70061-3

Jorge MGAV, Carrapatoso BC, Fernandes ABS. A Fisioterapia na Amiotrofia Espinhal Progressiva Tipo I: Uma Revisão de Literatura. Rev Neurocienc. 2013;21(3):402-407. Doi: https://doi.org/10.34024/rnc.2013.v21.8165

Zanoteli E, Vital E, Holsapfel SA, Crippa PS, Polido GJ, Zuccon A, et al. Atrofia muscular espinhal: entender, cuidar e viver: um guia para famílias e profissionais. São Paulo: Instituto Nacional da Atrofia Muscular Espinhal/Farol: 2020.

Gardona RGB, Barbosa DA. The importance of clinical practice supported by health assessment tools. Rev Bras Enferm. 2018;71(4):1815-1816. Doi: https://doi.org/10.1590/0034-7167-2018710401

Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388(10063):3017-3026. Doi: https://doi.org/10.1016/S0140-6736(16)31408-8

Fonseca MTM, Lasmar LMB, Andrade CR, Camargos PAM, Carvalhais MB, Paula PB, et al. Abordagem respiratória dos pacientes com doenças neuromusculares. Rev Med Minas Gerais. 2008;18(4, supl. 3):S21-S26.

Es MK, Erasmus CE, Houwen S, Groot IJM, Voet NBM, Engel-Hoek LVD. Early detection of dysphagia and dysarthria in children with neuromuscular disorders: Diagnostic accuracy of a Screeninglist for Physicians. J Pediatr Rehabil Med. 2020;13(1):17-23. Doi: https://doi.org/10.3233/PRM-180569

McGrattan KE, Graham RJ, DiDonato CJ, Darras BT. Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future. Am J Speech Lang Pathol. 2021;30(3):1008-1022. Doi: https://doi.org/10.1044/2021_AJSLP-20-00217

Polido GJ, Miranda MMV, Carvas N, Mendonça RH, Caromano FA, Reed UC, et al. Cognitive performance of children with spinal muscular atrophy: A systematic review. Dement Neuropsychol. 2019;13(4):436-43. Doi: https://doi.org/10.1590/1980-57642018dn13-040011

Glickman LB, Geigle PR, Paleg GS. A systematic review of supported standing programs. J Pediatr Rehabil Med. 2010;3(3):197-213. Doi: https://doi.org/10.3233/PRM-2010-0129

Montes J, Yoon LH. Commentary on "Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database". Pediatr Phys Ther. 2020;32(3):242. Doi: https://doi.org/10.1097/PEP.0000000000000722

Matsumura ESS, Sousa Júnior AS, Guedes AJ, Teixeira RC, Kietzer KS, Castro LSF. Distribuição territorial de profissionais fisioterapeutas no Brasil. Fisioter Pesq. 2018;25(3):309-14. Doi: https://doi.org/10.1590/1809-2950/17027025032018

Published

2024-06-28

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Original Article

How to Cite

1.
Nascimento BO do, Barbosa BA, Medeiros NM, Moriyama CH, Leite IPA, Lima AAR de. Adherence to guides and consensus for people with spinal muscular atrophy type 1: clinical practice of motor physiotherapy. Acta Fisiátr. [Internet]. 2024 Jun. 28 [cited 2025 Apr. 17];31(2):81-6. Available from: https://journals.usp.br/actafisiatrica/article/view/222349