Intervenção fisioterapêutica na Síndrome de Noonan: relato de caso / Physiotherapeutic intervention in Noonan Syndrome: a case report

Authors

  • Ingryd Mary Prata Santana
  • Lêda Leonôr Mendonça Carvalho
  • Ingrid Mendes Santos
  • José Fontes Júnior
  • Thaisa Soares Caldas Batista
  • Sheila Schneiberg

DOI:

https://doi.org/10.34119/bjhrv3n6-296

Keywords:

Síndrome De Noonan, Funcionalidade, Escoliose, criança, preferência do cliente.

Abstract

A Síndrome de Noonan (SN) é uma doença genética que causa múltiplas anomalias congênitas e problemas no desempenho motor. A fisioterapia na SN pode atuar tanto na reabilitação motora como na respiratória, condicionamento muscular e melhor qualidade de vida para esses pacientes. Este estudo teve como objetivo fazer um relacionado de caso de uma paciente com Síndrome de Noonan submetido a intervenção fisioterapêutica. Trata-se de um relato de caso realizado de um paciente com SN atendido em uma clínica escola por dois meses. A intervenção fisioterapêutica aconteceu duas vezes na semana com cinquenta minutos de duração cada sessão e o tratamento foi voltado para reequilíbrio muscular, liberação miofascial, exercícios respiratórios, aeróbicos e exercícios de autocorreção.Foi observado através da análise qualitativa da imagem uma melhora da postura da paciente e melhor desempenho respiratório ao realizar atividades. Conclui-se que uma intervenção fisioterapêutica na SN apresenta um papel importante para manter os aspectos positivos, melhorando assim a qualidade de vida desses pacientes.

References

Alanazi MH, Parent EC, Dennett E. Effect of stabilization exercise on back pain, disability and quality of life in adults with scoliosis: a systematic review. Eur J Phys Rehabil Med. 2018; 54(5):647-653. https:doi: 10.23736/S1973-9087.17.05062-6

Anderson K, Cnota J, James J et al. Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis. Congenit Heart Dis. 2019; 14(2):264-273. https:doi: 10.1111/chd.12721

Bhambhani V, Muenke M. Noonan Syndrome. Am Fam Physiciam. 89(1):37-43

Chinton J, Huckstadt V, Moresco A et al. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. Arch Argent Pediatr. 2019; 117(5):330-337. https:doi: 10.5546/aap.2019.eng.330

Croonen EA, Harmsen M, Van der Burgt I et al. Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives. Am J Med Genet A. 2016; 170(9):2349-56. https:doi: 10.1002/ajmg.a.37814

Croonen EA, Essink M, van der Burgt I et al. Motor performance in children with Noonan syndrome. Am J Med Genet A. 2017; 173(9):2335-2345. https:doi: 10.1002/ajmg.a.38322

Diab AA. The role of forward head correction in management of adolescent idiopathic scoliotic patients: a randomized controlled trial. Clin Rehabil. 2012; 26(12):1123-32. doi: 10.1177/0269215512447085

Ekvall S, Wilbe M, Dahlgren J et al. Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. BMC Med Genet. 2015; 14;16:95. https:doi: 10.1186/s12881-015-0239-1

Fusco C, Zaina F, Atanasio S et al. Physical exercises in the treatment of adolescent idiopathic scoliosis: an updated systematic review. Physiother Theory Pract. 2011; 27(1):80-114. https:doi: 10.3109/09593985.2010.533342

Gür G, Ayhan C, Yakut Y. The effectiveness of core stabilization exercise in adolescent idiopathic scoliosis: A randomized controlled trial. Prosthet Orthot Int. 2017; 41(3):303-310. doi: 10.1177/0309364616664151

Johnston JJ, van der Smagt JJ, Rosenfeld JÁ et al. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018; 20(10):1175-1185. https:doi: 10.1038/gim.2017.249

Kruszka P, Porras AR, Addissie YA et al. Noonan syndrome in diverse populations. Am J Med Genet A. 2017; 173(9):2323-2334. https:doi: 10.1002/ajmg.a.38362

Leach NT, Wilson Mathews DR et al. Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. Genet Med. 2019; 21(2):417-425. https:doi: 10.1038/s41436-018-0062-0

Lepri FR, Scavelli R, Digilio MC et al. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. BMC Med Genet. 2014; 15:14. https:doi: 10.1186/1471-2350-15-14

Monticone M, Ambrosini E, Cazzaniga D et al. Active self-correction and task-oriented exercises reduce spinal deformity and improve quality of life in subjects with mild adolescent idiopathic scoliosis. Results of a randomised controlled trial. Eur Spine J. 2014; 23(6):1204-14. https:doi: 10.1007/s00586-014-3241-y

Noonan JA, Kappelgaard AM. The efficacy and safety of growth hormone therapy in children with noonan syndrome: a review of the evidence. Horm Res Paediatr. 2015; 83(3):157-66. https:doi: 10.1159/000369012

Perrino F, Licchelli S, Serra G et al. Psychopathological features in Noonan syndrome. Eur J Paediatr Neurol. 2018 Jan;22(1):170-177. https:doi: 10.1016/j.ejpn.2017.09.009

Pierpont ME, Digilio MC. Cardiovascular disease in Noonan syndrome. Curr Opin Pediatr. 2018 Oct;30(5):601-608. https:doi: 10.1097/MOP.0000000000000669. PMID: 30024444

Roberts AE, Allanson JE, Tartaglia M etal. Noonan syndrome. Lancet. 2013; 26;381(9863):333-42. https:doi: 10.1016/S0140-6736(12)61023-X

Roberts AE, Allanson JE, Tartaglia M et al. Noonan syndrome. Lancet. 2014; 26; 381(9863): 333–342. https:doi:10.1016/S0140-6736(12)61023-X

Roberts SB, Tsirikos AI. Factors influencing the evaluation and management of neuromuscular scoliosis: A review of the literature. J Back Musculoskelet Rehabil. 2016; 29(4):613-623. https:doi: 10.3233/BMR-160675

Romano AA, Allanson JE, Dahlgren J et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010; 126(4):746-59. https:doi: 10.1542/peds.2009-3207

Romano M, Minozzi S, Bettany-Saltikov J et al. Exercises for adolescent idiopathic scoliosis. Cochrane Database Syst Rev. 2012; 15;2012(8):CD007837. Httpes:doi: 10.1002/14651858.CD007837

Romano M, Negrini A, Parzini S et al. SEAS (Scientific Exercises Approach to Scoliosis): a modern and effective evidence based approach to physiotherapic specific scoliosis exercises. Scoliosis. 2015; 5;10:3. https:doi: 10.1186/s13013-014-0027-2

Seo GH, Yoo HW. Growth hormone therapy in patients with Noonan syndrome. Ann Pediatr Endocrinol Metab. 2018; 23(4):176-181. https:doi: 10.6065/apem.2018.23.4.176

Siegfried A, Cances C, Denuelle M et al. Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature. Am J Med Genet A. 2017; 173(4):1061-1065. https:doi: 10.1002/ajmg.a.38108

Tafazoli A, Eshraghi P, Koleti ZK, Abbaszadegan M. Noonan syndrome - a new survey. Arch Med Sci. 2017;1;13(1):215-222. doi: 10.5114/aoms.2017.64720

Toledo PCV, Mello DB, Araújo ME et al. Efeitos da Reeducação Postural Global em escolares com escoliose. Fisioterapia e Pesquisa. 2011; 8(4):329-34

Yart A, Edouard T. Noonan syndrome: an update on growth and development. Curr Opin Endocrinol Diabetes Obes. 2018;25(1):67-73. https:doi: 10.1097/MED.0000000000000380

Zheng Y, Dang Y, Yang Y et al. Whether Orthotic Management and Exercise are Equally Effective to the Patients With Adolescent Idiopathic Scoliosis in Mainland China?: A Randomized Controlled Trial Study. Spine (Phila Pa 1976). 2018; 1;43(9):E494-E503. https:doi: 10.1097/BRS.0000000000002412

Published

2020-12-20

How to Cite

SANTANA, I. M. P.; CARVALHO, L. L. M.; SANTOS, I. M.; FONTES JÚNIOR, J.; BATISTA, T. S. C.; SCHNEIBERG, S. Intervenção fisioterapêutica na Síndrome de Noonan: relato de caso / Physiotherapeutic intervention in Noonan Syndrome: a case report. Brazilian Journal of Health Review, [S. l.], v. 3, n. 6, p. 19112–19122, 2020. DOI: 10.34119/bjhrv3n6-296. Disponível em: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/21937. Acesso em: 29 mar. 2024.

Issue

Section

Original Papers