#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Specifics of physical therapy for children with osteogenesis imperfecta


Authors: Quittková A.;  Kašparová A.;  Šafářová M.;  Dyrhonová O.
Authors‘ workplace: Klinika rehabilitace a tělovýchovného lékařství 2. LF UK a FN Motol, Praha
Published in: Rehabil. fyz. Lék., 31, 2024, No. 1, pp. 41-48.
Category:
doi: https://doi.org/10.48095/ccrhfl 202441

Overview

Osteogenesis imperfecta (OI) is a rare disease. Rehabilitation care for patients with OI is a lifelong process. The development of a child can be complicated by the occurrence of fractures, deformities or scoliosis. The aim of this article is to summarize basic information about the most common musculoskeletal complications and to emphasize the periods in which rehabilitation is crucial. Additionally, an important goal is to highlight the risk of falling into the so-called vicious circle, that can significantly limit the quality of life of children with OI, and from which it is possible to get out of by appropriately chosen rehabilitation within the comprehensive treatment set by a multidisciplinary team.

Keywords:

Quality of life – rehabilitation – brittle bone disease


Sources

1. Forlino A, Marini JC. Osteogenesis imperfecta. Lancet 2016; 387(10028): 1657–1671. doi: 10.1016/ S0140-6736(15)00728-X.

2. Panzaru M-C, Florea A, Caba L et al. Classification of osteogenesis imperfecta: importance for prophylaxis and genetic counseling. World J Clin Cases 2023; 11(12): 2604–2620. doi: 10.12998/ wjcc.v11.i12.2604.

3. Nijhuis W, Verhoef M, van Bergen C. Fractures in osteogenesis imperfecta: pathogenesis, treatment, rehabilitation and prevention. Children (Basel) 2022; 9(2): 268. doi: 10.3390/ children9020268.

4. Carvalho PAF, Regis TS, Faiçal AVB et al. Respiratory function of children and adolescents with osteogenesis imperfecta: respiratory muscle strength, forced vital capacity, and peak expiratory flow. Rev Paul Pediatr 2023; 41: e2022092. doi: 10.1590/ 1984-0462/ 2023/ 41/ 2022092.

5. Mařík I, Maříková A, Povýšil C. Osteogenesis imperfekta. In: Povýšil et al. Patomorfologie chorob kostí a kloubů. Praha: Galén 2017: 74–83.

6. Bayer M. Osteogenesis imperfecta – současný pohled na problematiku. Čes-Slov Pediat 2017; 72(4): 212–222.

7. Mueller B, Engelbert R, Baratta-Ziska B et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfect. Orphanet J Rare Dis 2018; 13(1): 158. doi: 10.1186/ s13023-018-0905-4.

8. Veilleux L-N, Darsaklis VB, Montpetit K et al. Muscle function in osteogenesis imperfecta type IV. Calcif Tissue Int 2017; 101(4): 362–370. doi: 10.1007/ s00223-017-0287-y.

9. Pavone V, Mattina T, Pavone P et al. Early motor delay: an outstanding, initial sign of osteogenesis imperfecta type 1. J Orthop Case Rep 2017; 7(3): 63–66. doi: 10.13107/ jocr.2250-0685.808.

10. Kashii M, Kanayama S, Kitaoka T et al. Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. J Bone Miner Metab 2019; 37(3): 545–553. doi: 10.1007/  s00774-018-0952-x.

11. Hill C, Baird W, Walters S. Development of an osteogenesis imperfecta (OI) specific quality of life measure (OIQoL). Physiotherapy 2016; 102(1): e10–e11. doi: 10.1016/ j.physio. 2016.10.016.

12. Hwang M. Rehabilitation in osteogenesis imperfecta. In: Smith PA, Rauch F, Harris GF (eds). Transitional care in osteogenesis imperfecta. Chicago: Shriners Hospitals for Children 2016.

13. Sá-Caputo DC, da Fontoura Dionello C, Frederico É et al. Whole-body vibration exercise improves functional parameters in patients with osteogenesis imperfecta: a systematic review with a suitable approach. Afr J Tradit Complement Altern Med 2017; 14(3): 199–208. doi: 10.21010/ ajtcam.v14i3.22.

14. Gilani M, Shepherd S, Nichols B et al. Evaluation of body composition in paediatric osteogenesis imperfecta. J Clin Densitom 2022; 25(1): 81–88. doi: 10.1016/ j.jocd.2021.01.012.

15. Högler W, Scott J, Bishop N et al. The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfect. J Clin Endocrinol Metab 2017; 102(8): 2734–2743. doi: 10.1210/ jc.2017-00275.

16. Wehrli S, Rohrbach M, Landolt MA. Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis. Orphanet J Rare Dis 2023; 18(1): 123. doi: 10.1186/ s13023-023-02728-z.

17. ePROVIDE. Pediatric Quality of Life Inventory™ (PedsQL™) [online]. Available from: https:/ / eprovide.mapi-trust.org/ instruments/ pediatric-quality-of-life-inventory.

18. LoMauro A, Lacca D, Landoni V et al. Lung and chest wall volume during vital capacity manoeuvre in osteogenesis imperfecta. Orphanet J Rare Dis 2022; 17(1): 397. doi: 10.1186/ s13023-022-02535-y.

19. Moreira CLM, Gilbert ACB, de Faria Domingues Lima MA et al. Physiotherapy and patients with osteogenesis imperfecta: an experience report. Fisioter Mov 2015; 28(2): 307–317. doi: 10.1590/ 0103-5150.028.002.AO11.

20. Plešková J, Quittková A, Dyrhonová O et al. Rehabilitační péče o děti s osteogenesis imperfect. In: Lebl J, Šumník Z, Souček O et al (eds). Onemocnění skeletu u dětí. Motolské pediatrické semináře 4. 1. vyd. Praha: Galén 2019.

21. Franzone JM, Shah SA, Wallace MJ et al. Osteogenesis imperfecta: a pediatric orthopedic perspective. Orthop Clin North Am 2019; 50(2): 193–209. doi: 10.1016/ j.ocl.2018.10.003.

22. D’Eufemia P, Palombaro M, Lodato V et al. Child abuse and osteogenesis imperfecta: how can they be still misdiagnosed? A case report. Clin Cases Miner Bone Metab 2012; 9(3): 195–197.

23. Dahan-Oliel N, Oliel S, Tsimicalis A et al. Quality of life in osteogenesis imperfecta: a mixed--methods systematic review. Am J Med Genet A 2016; 170A(1): 62–76. doi: 10.1002/ ajmg. a.37377.

24. Marr C, Seasman A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. J Multidiscip Healthc 2017; 10: 145–155. doi: 10.2147/ JMDH.S113483.

25. Rossi V, Lee B, Marom R. Osteogenesis imperfecta: advancements in genetics and treatment. Curr Opin Pediatr 2019; 31(6): 708–715. doi: 10.1097/ MOP.0000000000000813.

26. Hoyer-Kuhn H, Semler O, Stark C et al. A specialized rehabilitation approach improves mobility in children with osteogenesis imperfect. J Musculoskelet Neuronal Interact 2014; 14(4): 445–453.

27. Barlow S, Dove L, Jaggi A et al. The prevalence of musculoskeletal pain and therapy needs in adults with Osteogenesis Imperfecta (OI) a cross-sectional analysis. BMC Musculoskelet Disord 2022; 23(1): 485. doi: 10.1186/ s12891-022-05433-3.

28. De Wouters S, Detrembleur C, Durnez A et al. Quantitative gait analysis in children with osteogenesis imperfecta: relationship between gait deviations and clinical features. Acta Orthop Belg 2022; 88(2): 255–262. doi: 10.52628/  88.2.9117.

29. Rabau O, Essa A, Smorgick Y et al. Scoliosis in osteogenesis imperfecta: results of posterior spinal fusion in 39 patients. Eur Spine J 2023; 32(4): 1146–1152. doi: 10.1007/ s00586-023-07550-6.

30. Williams SA, Stott NS, Valentine J et al. Measuring skeletal muscle morphology and architecture with imaging modalities in children with cerebral palsy: a scoping review. Dev Med Child Neurol 2021; 63(3): 263–273. doi: 10.1111/  dmcn.14714.

31. Sanchis-Gimeno JA, Lois-Zlolniski S, Gonzáles-Ruiz J et al. Association between ribs shape and pulmonary function in patients with osteogenesis imperfecta. J Adv Res 2020; 21: 177–185. doi: 10.1016/ j.jare.2019.10. 007.

Příloha 1

Dostupná v on-line verzi článku.

Doručeno/ Submitted: 13. 8. 2023
Přijato/
 Accepted: 23. 1. 2024

Korespondenční autor:
Mgr. Adéla Quittková
Klinika rehabilitace a tělovýchovného lékařství
2. LF UK a FN Motol
V Úvalu 84
150 06 Praha 5
e-mail : adela.quittkova@gmail.com

Labels
Physiotherapist, university degree Rehabilitation Sports medicine
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#