Resumo
For hereditary reasons, an individual can develop a deficit in the COL1A1 and COL1A2 genes, resulting in a lack of collagen and causing imperfect osteogenesis. Thus, this work aimed to present a literature review that addressed the motor development and gait of individuals with carriers, analyzing the interventions and treatments that bring positive benefits by improving motor function. The research was carried out in the bibliographic databases Pubmed, PMC Central, Scielo, PeDro, Crochrane, Reaserach Gate and Lilacs, selecting articles published in English and Portuguese between the period 2011 to 2020. The bibliographic survey took place between February and November 2021. 21 articles were included in the study according to the established criteria. In conclusion, it was observed that the physiotherapeutic intervention is effective and brings benefits, minimizing the impacts on the motor development of individuals with osteogenesis imperfecta, providing an improvement in the quality of life in children with osteogenesis imperfecta.
Referências
Tournis S, Dede AD. Elsevier Osteogenesis imperfecta–a clinical update. Ver Metabolism. 2018;80(1) 27-37.
Garman CR, Graf A, Krzak J, Claudill A, Smith P, Harris G. Gait Deviations in Children With Osteogenesis Imperfecta Type I. Rev J Pediatr Orthop. 2019;39(8):641-646.
Mueller B, Engelbert R, Baratta-ziska F, Bartels B, Blanc N et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Rev The official journal of Orphanet. 2018;13(158):3- 14.
Veilleux LN, Trejo P, Rauch F. Muscle abnormalities in osteogenesis imperfecta. Rev Journal of Musculoskeletal and Neuronal Interactions. 2017;17(2):1-7.
Coelho G, Luis LC, Castro LC, David AC. Postural balance, handgrip strength and mobility in Brazilian children and adolescents with osteogenesis imperfecta. Ver Jornal de Pediatria. 2020;894(1):6.
Brizola E, Zambrano MB, Pinheiro BS, Vanz AP, Félix TM. Características clinicas e padrão de fraturas no momento do diagnóstico da osteogênese imperfeita em crianças. Rev Paul Prediatr. 2017;35(2):1.
Moreira CLM, Lima MAFD, Cardoso MHCA, Junior SCSG, et al. Determinantes de marcha independente na osteogênese imperfeita. Rev Acta Ortopédica. 2011;19(5):2-4.
Orlando G, Villanueva RP, Ireland A, Reeves ND, Javaid MK. Physical function in UK adults with osteogenesis imperfecta: a cross-sectional analysis of the RUDY study. Springer link. Rev Osteoporosis International. 2020;32(1):157- 164.7
Pacey V, Montpetit K. Quality of Life and Functional Evaluation Measures for Osteogenesis Imperfecta. Rev Osteogenesis Imperfecta. 2020;1(1) :57-70.
Pavone V, Mattina T, Pavone P, Falsaperla R, Testa G. Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1. Rev J OrthopCase Rep. 2017;7(3):63-66.
Song Y, Zhao D, Wang O, Xia W, Xing X, et al. Health-related quality of life in children with osteogenesis imperfecta: a large-sample study. Rev Osteoporos Int.. 2018;30(2):461-468.
Coêlho G, Luiz LC, Castro LC, David AC. Postural balance, handgrip strength and mobility in brazilian children and adolescents with osteogenesis imperfecta. Pediatric Journal 97. 2021.97(3);315-320.
Montpetit K, Lafrance M, Glorieux F, Fassier F, Hamdy R, et.al. Predicting ambulatory function at skeletal maturity in children with moderate to severe osteogenesis imperfecta. Eur J. Pediatr. 2021; 180(1); 233-239.
Kruger KM, Caudill A, Celin MR, Nagamani SCS, Shapiro JR et al. Mobility in Osteogenesis Imperfecta: A Multicenter North American Study. Rev. Am Med Genet A. 2020; 182(4): 697-704.
Garman C.R, Graf A, Krzak J, Caudill A, Smith P, Harris G. Gait Deviations in Children With Osteogenesis Imperfecta Type I. Rev. J Pediatr Orthop. 2019; 39(8): 641-646.
Veilleux, LN., Darsaklis, VB, Montpetit, K. Função Muscular na Osteogênese Imperfecta Tipo IV. Calcif Tissue Int.2017; 101 (1): 362-370.
Badhyal S, Dhole SR, Gopinathan NR, Dhillon MS, et. al. Kinetic and Kinematic Analysis of Gait in Type IV Osteogenesis Imperfecta Patients: A Comparative Study. Revista Indian J Orthop. 2019;53(4):560-566.
Moreira CLM, Gilbert A.C.B, Lima MAFD, Cardoso MHCA, Junior CLM. Phisioterapy and patients with osteogenesis imperfecta: na experience report. Fisioter. Mov.2015; 28(2):307-17.
Kuhn H.H, Semler O,Stark C, Struebing N, Goebel O et.al. A specialized reabilitation approach improves mobility in children with osteogenesis imperfecta. Musculoskelet Neuronal Interact .2014;14(4):445-453.
Montpetit K, Palomo T, Glorieux F, Fassier F, Rauch F. Tratamento multidisciplinar na osteogênese imperfeita: resultados funcionais na maturidade esquelética. Physical medicine and rehabilitation.2015; 96(10): 1834-1839.
Moreira CLM, Lima MAFD, Cardoso MHCA, Junior SCSG, Lopes PB et.al. Independent walk in osteogenesis imperfecta. Rev. Acta Ortop. Bras. 2011; 19(5):312-5.
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
Copyright (c) 2023 Keyte Guedes da Silva, Karine Silva Vilas Boas Pereira, Gisele da Silva Rodrigues