Perception of families of patients with spinal muscular atrophy on the use of spinraza® associated with physical therapy treatment
DOI:
https://doi.org/10.33448/rsd-v9i10.9358Keywords:
Congenital Amyotonia; Therapeutic Exercise; Pharmaceutical Preparations; Neurological Physiotherapy.Abstract
Spinal muscular atrophy (EBF) is a specific type of neuromuscular disease, caused by the degeneration of motor neurons, resulting in atrophies and progressive muscle weakness. The use of drugs associated with rehabilitation seeks to provide more quality of life for the individual and the family. The objective was to verify the level of perception of families of patients with EBF regarding the effectiveness of using the Spinraza® medication associated with physical therapy. This is a cross-sectional, quantitative and qualitative study, carried out using an online form sent to the families of individuals with EBF from all over Brazil, who answered a semi-structured questionnaire with questions related to the use of the medication Spinraza® and the physiotherapeutic treatment. . Descriptive statistics was performed. 114 families participated, of which 60% had individuals using the drug. Regarding physical therapy treatment, only 1 child does not follow up with this professional. Most family members (53%) pointed out that they noticed greater advances in the treatment with physical therapy associated with the use of the medication and 8% of these believe that only physical therapy is enough. It is concluded that the relatives of individuals with EBF present a positive perception of improvement in their clinical condition when they use the medication Spinraza® associated with physical therapy. In this sense, the combination of both treatment approaches should be without incentives to prevent the progression of EBF, providing a better quality of life for the individual and the family.
References
Baioni, M. T., & Ambiel, C. R. (2010). Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras. Jornal de Pediatria, 86(4), 261-270.
Bardinn L. Análise de Conteúdo. Vol 1. 1st ed. (Edições 70, ed.). Edições 70; 1977.
Barreto, I. A., Chiarello, C. R., Erthal, V., & Mélo, T. R. (2016). Terapia Neuromotora Intensiva favorece manutenção do controle de cabeça e tronco em crianças com Amiotrofia Espinhal: Série de casos. Revista Uniandrade, 17(3), 139-148.
Bezerra, M. I. C. (2008). Qualidade de vida de crianças com atrofia muscular espinhal. Dissertação (mestrado) - Universidade de Fortaleza – UNIFOR, 99 p.
Brasil - Ministério da Saúde. Comissão Nacional de Incorporação de Tecnologias (CONITEC). Protocolo Clínico e Diretrizes Terapêuticas Atrofia Muscular Espinhal 5q Tipo1 2019. Disponível em: http://conitec.gov.br/images/Protocolos/Portaria_Conjunta_PCDT_Atrofia_Muscular_Espinhal_5q_Tipo-I.pdf Acesso em: 16. Out. 2020.
Carvalho, L. R. R. D., & Scola, R. H. (2003). Estudo de 43 pacientes com atrofia muscular espinhal e seu diagnóstico molecular. Dissertação (mestrado) - Universidade Federal do Paraná. Setor de Ciências da Saúde. Departamento de Clínica Médica. Curso de Pós-graduação em Medicina Interna, 120 p.
Chaves, A. C. X., Conceição, E. C. G., Cunha, M. C. B., Silva, T. M. (2012). Doenças Neuromusculares - Atuação de Fisioterapia - Guia Teórico e Prático. Editora Roca. ed. 1 seção 2, cap. 05, p. 118.
Chrun, L. R., Costa, L. R. C., da Silva Miranda, G., & Almeida, F. M. (2017). Atrofia muscular espinhal tipo I: aspectos clínicos e fisiopatológicos. Revista de Medicina, 96(4), 281-286.
Cunha, M. C. B. (2019). Relaxamento aquático em piscina aquecida, realizado através do método Ai Chi: nova abordagem hidroterapêutico para pacientes portadores de doenças neuromusculares. Fisioterapia Brasil, 3(2), 79-84.
Feitosa, W. F., da Silva, M. G. P., & Cunha, K. J. B. (2014). Perfil de crianças com atrofia muscular espinhal em uma unidade de terapia intensiva pediátrica. Revista Interdisciplinar, 7(1), 173-182.
Ferreira, R., Neuparth, M. J., Ascensão, A., Magalhães, J., Duarte, J., & Amado, F. (2004). Atrofia muscular esquelética. Modelos experimentais, manifestações teciduais e fisiopatologia. Revista Portuguesa de Ciências do Desporto, 4(3), 94-111.
Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., ... & Topaloglu, H. (2017). Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med, 377, 1723-1732.
Grondard, C., Biondi, O., Armand, A. S., Lécolle, S., Della Gaspera, B., Pariset, C., ... & Charbonnier, F. (2005). Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse. Journal of Neuroscience, 25(33), 7615-7622.
INAME - Instituto Nacional da Atrofia Muscular Espinhal – INAME, 2019. Disponível em: https://iname.org.br/ Acesso em: 16. Out. 2020.
Jorge, M. G. A. V., Carrapatoso, B. C., & Fernandes, A. B. S. (2013). A Fisioterapia na Amiotrofia Espinhal Progressiva Tipo I. Revista Neurociências, 21(3), 402-407.
Madipalli, S. (2017). Spinraza—the patient perspective. Gene Therapy, 24(9), 501-502.
Menegassi, D. A., de Aguiar Sabbag, A., da Costa, A. R. C., Maltauro, L., Mélo, T. R., & Neves, E. B. (2019). Terapia neuromotora intensiva melhora a composição corporal na paralisia cerebral e amiotrofia. Revista Brasileira de Obesidade, Nutrição e Emagrecimento, 13(78), 275-283.
Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., ... & Bertini, E. (2018). Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2), 103-115.
Minayo M. C. S. O Desafio Do Conhecimento: Pesquisa Qualitativa Em Saúde. 14th ed. (Hucitec, ed.).; 2014.
Morrow, T. (2017). New Therapy for Spinal Muscular Atrophy Offers Modest Bang for Pharamaceutical Buck. Managed Care (Langhorne, Pa.), 26(2), 36-37.
Neves, E. B., Krueger, E., dos Santos Cióla, M. C., Costin, A. C. M. S., Chiarello, C. R., & de Oliveira Rosário, M. (2014). Terapia Neuromotora Intensiva na Reabilitação da Atrofia Muscular Espinhal. Revista Neurociências, 22(1), 66-74.
Oliveira, A. I. A. D., & Cunha, M. C. B. (2013). Caracterização da diversidade funcional motora e autonomia de sujeito com amiotrofia muscular espinhal tipo III. ABCS health sci, 38, 52-56.
Orsini, M., de Freitas, M. R., de Sá, M. R. C., de Mello, M. P., Botelho, J. P., de Souza Antonioli, R., ... & de Freitas, G. R. (2008). Uma revisão das principais abordagens fisioterapêuticas nas atrofias musculares espinhais. Revista Neurociências, 16(1), 46-52.
Ottesen, E. W. (2017). ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy. Translational neuroscience, 8(1), 1-6.
Palomino, M. A., & Castiglioni, C. (2018). Manejo respiratorio en atrofia muscular espinal: cambio de paradigma en la era de las nuevas terapias específicas. Revista chilena de pediatría, 89(6), 685-693.
Parsons, J., Ryan, M. M.; Finanger, E., Zhang, Y.; Bhan, I.; & Farwell, W. (2018). Nusinersen Treatment Reduces the Likelihood of Requiring Ventilation Support in Infants With Spinal Muscular Atrophy: Results of the ENDEAR Trial. Muscular Distrophy Association Congress, 377(18), 1-2.
Pechmann, A., Langer, T., Schorling, D., Stein, S., Vogt, S., Schara, U., ... & Johannsen, J. (2018). Evaluation of children with SMA type 1 under treatment with nusinersen within the expanded access program in Germany. Journal of neuromuscular diseases, 5(2), 135-143.
Silva, F. S. D., & Rodrigues, J. M. P. (2019). Intervenção fisioterapêutica na atrofia muscular espinhal: uma revisão bibliográfica. Fisioterapia-Pedra Branca, 1(1), 1-13.
Simoens, S., & Huys, I. (2017). Market access of Spinraza (Nusinersen) for spinal muscular atrophy: intellectual property rights, pricing, value and coverage considerations. Gene therapy, 24(9), 539-541.
Soares, J. A., Silva, N. L. S., Leite, S. D. O., & Parisi, M. T. (2006). Fisioterapia e qualidade de vida de paciente com amiotrofia espinal progressiva tipo I–Relato de Caso. Arq Ciênc Saúde, 13(1), 44-7.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2020 Rafaelly Filomena Souza de Castro; Melani de Sá Marin ; Siméia Gaspar Palácio ; Mateus Dias Antunes; Michelle Cardoso Machado dos Santos; Fabiana Nonino
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
