Fisioterapia precoce na Síndrome de Freeman-Sheldon: relato de caso
DOI:
https://doi.org/10.34119/bjhrv7n2-201Keywords:
Freeman-Sheldon Syndrome, physiotherapy, precocious, quality of lifeAbstract
Freeman-Sheldonn Syndrome (FSS) is a rare condition that presents as autosomal dominant due to mutations in the embryonic myosin heavy chain (MYH3). Individuals with FSS develop contractures that lead to motor and respiratory impairments and difficulties in eating. Physiotherapy can act in the prevention of skeletal deformities, muscle rebalance and in the improvement of respiratory function, thus aiming to promote more functionality for the patient. This study aimed to report a case of physiotherapy in the FSS. This is the first case report of an infant with FSS seen at a teaching clinic twice a week, lasting 1 hour each session, for a period of two consecutive months. The care protocol was built based on the assessment of the infant's primary and secondary disabilities, from which the functional goals (short, medium and long term) were pre-established and the activities developed aimed at functional improvement. The performance of physiotherapy in the FSS over a period of two months had a positive effect on improving cervical extension in prone posture and improving cervical alignment in supine posture. Physiotherapy plays an important role in the prevention and maintenance of functional aspects, improving the patient's health condition, from increasing functionality and reducing disabilities.
References
- Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet Journal of Rare Diseases. 2019;14:14. doi: 10.1186/s13023-018-0984-2
- Hegde SS, Shetty MS, Murthy BSR. Freeman-Sheldon syndrome: prenatal and postnatal diagnosis. Indian Journal of Pediatrics. 2010 Feb;77(2):196-7
- Gurjar V, Parushetti A, Gurjar M. Freeman-sheldon syndrome presenting with microstomia: a case report and literature review. J Maxillofac Oral Surg. 2013 Dec;12(4):395-9. doi: 10.1007/s12663-012-0392-4
- Beck AE, McMillin MJ, Gildersleeve HI, Shively KM, Tang A, Bamshad MJ. Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 2014 Nov;164A(11):2808-13. doi: 10.1002/ajmg.a.36762. Epub 2014 Sep 25. PMID: 25256237.
- Park J, Kang SW, Choi WA, Lee Y, Cho HE. Response: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70). Ann Rehabil Med. 2020 Oct;44(5):411-413. doi: 10.5535/arm.20110.R. dói:10.34119/bjhrv6n5-263.
- Ferrari D, Bettuzzi C, Donzelli O. Freeman-Sheldon Syndrome: A case report and review of the literature. Chir Organi Mov. 2008Dec;12(4):395-9. doi: 10.1007/s12663-012-0392-4.
- Rocha FM & Carvalho CRL. Case report of a male patient with Freeman-Sheldon Syndromes e Schwartzjampel. Ver. Ceciliana. 2011; 3(1): 62-64
- Lopes LO, Lopes VP, Santos R, Pereira BO. Associations between physical activity, skills and motor coordination in Portuguese children. Revista Brasileira de Cineantropometria e Desempenho Humano, 2011 v. 13, n. 1, p. 15–21.
- Gallahue DL., Ozmun JC, Goodway JD. Compreendendo o desenvolvimento motor: bebês, lactentes, adolescentes e adultos. 7. ed. Porto Alegre: AMGH, 2013
- Ministério da Saúde. Secretaria de Atenção à Saúde. Departamento de Ações Programáticas Estratégicas. Diretrizes de Estimulação Precoce crianças de zero a 3 anos com atraso no desenvolvimento neuropsicomotor. Brasília, 2016
- Santos GFL, Santos FF, Martins FPAA. Atuação da fisioterapia na estimulação precoce em criança com paralisia cerebral. Dê Cienc. Foco. 2017; 1(2): 76-94
- Silva CCV. Atuação da fisioterapia através da estimulação precoce em bebês prematuros. Rev. Eletrôn. Atualiza Saúde. 2017;5(5):29-36
- Marques ICP, Fernandes D, Souza IH, Reis YVG, Magalhães AS, Labarba AA, Gomes LMC, Silveira MM, Melo DF, Santos LS, Pereira IL, Cestari MC. Freeman-Sheldon Syndrome: a case study addressing clinical features, diagnosis and clinical evolution. Brazilian Journal of Health Review, Curitiba, v. 6, n. 5, p.22267-22274, sep./oct., 2023
- Cunha, M; Costa, RFC; Garcia, AF; Hajel, VA; Siqueira, GS; Saad, DM.; Melo, GS; Brandão, PGP; Ribeiro, MF; Prado, FM.; Figueirêdo, MMS; Lima, MG.; Taveira, CO.; Martins, MCR; Curado Sobrinho, FE. Síndrome de Freeman-Sheldon: uma abordagem diagnóstica, evolução clínica e revisão. Brazilian Journal of Health Review, [S. l.], v. 6, n. 5, p. 21811–21819, 2023. DOI: 10.34119/bjhrv6n5-213. Disponível em: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/63162. Acesso em: 18 mar. 2024.
- Ismail FY, Fatemi A, Johnston MV. Cerebral plasticity: Windows of opportunity in the developing brain. Eur J Paediatr Neurol. 2017 Jan;21(1):23-48. doi: 10.1016/j.ejpn.2016.07.007.
- Silveira-Moriyama L. Neuroplasticity and neuromodulation in children. Eur J Paediatr Neurol. 2017 Jan;21(1):3. doi: 10.1016/j.ejpn.2016.11.011
- Dennis M, Spiegler BJ, Juranek JJ, Bigler ED, Snead OC, Fletcher JM. Age, plasticity, and homeostasis in childhood brain disorders. Neurosci Biobehav Ver. 2013;37(10):2760e73 .doi.org/10.1016/j.neubiorev.2013.09.010
- Naidu S, Kaufmann WE, Abrams MT, Pearlson GD, Lanham DC, Fredericksen KA, et al. Neuroimaging studies in Rett syndrome. Brain Dev 2001;23(Suppl. 1):S62e71. S0387760401003813.
- Paluszkiewicz SM, Martin BS, Huntsman MM. Fragile X syndrome: the GABAergic system and circuit dysfunction. Dev Neurosci 2011;33(5):349e64. doi.org/10.1159/ 000329420
- Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, et al. HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1. Mol Psychiatry 2015;20(11):1311e21
- Oberg GK, Campbell SK, Girolami GL, Ustad T, Jørgensen L, Kaaresen PI. Study protocol: an early intervention program to improve motor outcome in preterm infants: a randomized controlled trial and a qualitative study of physiotherapy performance and parental experiences. BMC Pediatr. 2012;15(12):15. doi: 10.1186/1471-2431-12-15
- Walklate J, Vera C, Bloemink MJ, Geeves MA, Leinwand L. The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects. J Biol Chem. 2016 May 6;291(19):10318-31. doi: 10.1074/jbc.M115.707489
- McCormick RJ, Poling MI, Portillo AL, Chamberlain RL. Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years. BMJ Case Rep. 2015 Jul 14;2015:bcr2015210935. doi: 10.1136/bcr-2015-210935
