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The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review

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Abstract

Purpose

Osteogenesis imperfecta (OI) is a genetic disorder (prevalence: 1:10,000), leading to bone fragility, frequent fractures, and varying degrees of physical limitations. Despite a substantial amount of research on the genetics, pathophysiology, and treatments related to OI, there remains a paucity of knowledge concerning the lived psychosocial experience of the OI population. This mixed-methods systematic review aimed to review, appraise, and synthesize the literature on the psychosocial experience of children and adults with OI with the goal of identifying implications for research, practice, and policy-making.

Methods

Using a systematic methodology, quantitative, qualitative, and mixed-methods studies were accessed through database searching, screened, assessed for eligibility, and appraised. Data from the selected studies fulfilling the eligibility and quality criteria were extracted and synthesized using thematic analysis with an inductive approach.

Results

A total of four qualitative and 20 quantitative studies, with various study designs and methodologies ranging in quality, were included in the review (n = 800; comprising 610 children and 175 adults with OI types I, III, IV, and V, ten parents and five healthcare professionals). Six themes were identified: intellectual feats, isolation and feeling different, fear of fractures, coping with challenges, adapting by learning new skills, and social relationships.

Conclusion

These findings highlighted key aspects of the experiences of children and adults with OI and will be essential for improving the quality and direction of research, tailoring clinical interventions addressing the psychosocial needs and quality of life of individuals with OI, and raising awareness among caregivers, healthcare professionals, administrators, and policy-makers associated with the OI population.

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References

  1. Graf, A., Hassani, S., Krzak, J., Caudill, A., Flanagan, A., Bajorunaite, R., et al. (2009). Gait characteristics and functional assessment of children with Type I osteogenesis imperfecta. Journal of Orthopaedic Research, 27(9), 1182–1190.

    Article  PubMed  Google Scholar 

  2. Van Dijk, F. S., & Sillence, D. O. (2014). Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. American Journal of Medical Genetics Part A, 164A(6), 1470–1481.

    Article  PubMed  Google Scholar 

  3. Sillence, D. O., Senn, A., & Danks, D. (1979). Genetic heterogeneity in osteogenesis imperfecta. Journal of Medical Genetics, 16(2), 101–116.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. OI World (2014). Me, Myself and O.I.

  5. Biggin, A., Zheng, L., Briody, J., McQuade, M., & Munns, C. (2013). Long-term effects of bisphosphonate therapy in children with osteogenesis imperfecta. Bone , 2, OP13. Abstracts.

  6. Brizola, E., Staub, A. L., & Felix, T. M. (2014). Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta. Pediatric Physical Therapy, 26(2), 245–252.

    Article  PubMed  Google Scholar 

  7. Basel, D., & Steiner, R. D. (2009). Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition. Genetics in Medicine, 11(6), 375–385. doi:10.1097/GIM.0b013e3181a1ff7b.

    Article  CAS  PubMed  Google Scholar 

  8. Widmann, R. F., Laplaza, F. J., Bitan, F. D., Brooks, C. E., & Root, L. (2002). Quality of life in osteogenesis imperfecta. International Orthopaedics, 26(1), 3–6. doi:10.1007/s002640100292.

    Article  PubMed  Google Scholar 

  9. Shapiro, J. R., & Germain-Lee, E. L. (2012). Osteogenesis imperfecta: Effecting the transition from adolescent to adult medical care. Journal of Musculoskeletal Neuronal Interactions, 12(1), 24–27.

    CAS  PubMed  Google Scholar 

  10. Canadian Pediatric Society (CPS). (2014). Care of adolescents with chronic conditions. Pediatric Child Health, 11(1), 43–48.

    Google Scholar 

  11. Fegran, L., Hall, E. O. C., Uhrenfeldt, L., Aagaard, H., & Ludvigsen, M. S. (2014). Adolescents’ and young adults’ transition experiences when transferring from paediatric to adult care: A qualitative metasynthesis. International Journal of Nursing Studies, 51(1), 123–135.

    Article  PubMed  Google Scholar 

  12. Shea-Landry, G. L., & Cole, D. E. C. (1986). Psychosocial aspects of osteogenesis imperfecta. Canadian Medical Association Journal, 135(9), 977–981.

    CAS  PubMed  PubMed Central  Google Scholar 

  13. Dahan‐Oliel, N., Oliel, S., Tsimicalis, A., Montpetit, K., Rauch, F., & Dogba, M. (2015). Quality of life in osteogenesis imperfecta: A mixed‐methods systematic review. American Journal of Medical Genetics, 170(1), 62–76.

    Article  Google Scholar 

  14. TW Group. (1998). The World Health Organization Quality of Life Assessment (WHOQOL): Development and general psychometric properties. Social Science and Medicine, 46(12), 1569–1585.

    Article  Google Scholar 

  15. Tsimicalis, A., Stinson, J., & Stevens, B. (2005). Quality of life of children following bone marrow transplantation: Critical review of the research literature. European Journal of Oncology Nursing, 9(3), 218–238.

    Article  PubMed  Google Scholar 

  16. Heyvaert, M., Maes, B., & Onghena, P. (2013). Mixed methods research synthesis: Definition, framework, and potential. Qual Quant Quality & Quantity: International Journal of Methodology, 47(2), 659–676.

    Article  Google Scholar 

  17. Pluye, P., Gagnon, M.-P., Griffiths, F., & Johnson-Lafleur, J. (2009). A scoring system for appraising mixed methods research, and concomitantly appraising qualitative, quantitative and mixed methods primary studies in mixed studies reviews. NS International Journal of Nursing Studies, 46(4), 529–546.

    Article  Google Scholar 

  18. Liberati, A., Altman, D. G., Tetzlaff, J., Mulrow, C., Gotzsche, P. C., Ioannidis, J. P. A., et al. (2009). The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: Explanation and elaboration. Journal of Clinical Epidemiology, 62(10), e1–e34.

    Article  PubMed  Google Scholar 

  19. Tong, A., Flemming, K., McInnes, E., Oliver, S., & Craig, J. (2012). Enhancing transparency in reporting the synthesis of qualitative research: ENTREQ. BMC Medical Research Methodolology, 12, 181. doi:10.1186/1471-2288-12-181.

    Article  Google Scholar 

  20. Heyvaert, M., Maes, B., & Onghena, P. (2013). Mixed methods research synthesis: Definition, framework, and potential. Quality & Quantity, 47(2), 659–676.

    Article  Google Scholar 

  21. Pope, C., Mays, N., & Popay, J. (2006). How can we synthesize qualitative and quantitative evidence for healthcare policy-makers and managers? Healthcare Management Forum, 19(1), 27–31.

    Article  PubMed  Google Scholar 

  22. Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101.

    Article  Google Scholar 

  23. Dahan-Oliel, N., Shikako-Thomas, K., & Majnemer, A. (2012). Quality of life and leisure participation in children with neurodevelopmental disabilities: A thematic analysis of the literature. Quality of Life Research, 21(3), 427–439.

    Article  PubMed  Google Scholar 

  24. Endnote (2014). http://www.endnote.com. Accessed January 16, 2015.

  25. Ablon, J. (2003). Personality and stereotype in osteogenesis imperfecta: Behavioral phenotype or response to life’s hard challenges? American Journal of Medical Genetics, 122A(3), 201–214.

    Article  PubMed  Google Scholar 

  26. de Mello, D. B., & Moreira, M. C. (2010). A hospitalizacao e o adoecimento pela perspectiva de criancas e jovens portadores de fibrose cistica e osteogenese imperfeita (The hospitalization and the process of becoming ill through the children’s and adolescents’ perspective with cystic fibrosis and osteogenesis imperfecta. [Portuguese]). Ciencia and Saude Coletiva, 15(2), 453–461.

    Article  PubMed  Google Scholar 

  27. Hill, C. L., Baird, W. O., & Walters, S. J. (2014). Quality of life in children and adolescents with osteogenesis imperfecta: A qualitative interview based study. Health and Quality of Life Outcomes, 12(1), 54. doi:10.1186/1477-7525-12-54.

    Article  PubMed  PubMed Central  Google Scholar 

  28. Zack, P., Franck, L., Devile, C., & Clark, C. (2005). Fracture and non-fracture pain in children with osteogenesis imperfecta [Comparative Study Research Support, Non-U.S. Gov’t]. Acta Paediatrica, 94(9), 1238–1242.

    Article  PubMed  Google Scholar 

  29. Alston, J. (1983). Children with brittle bones: An examination of their educational needs and progress. Special Education: Forward Trends, 10(4), 19–23.

    Article  CAS  Google Scholar 

  30. Balkefors, V., Mattsson, E., Pernow, Y., & Saaf, M. (2013). Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiotherapy Research International, 18(4), 203–211. doi:10.1002/pri.1546.

    Article  PubMed  Google Scholar 

  31. Dogba, M. J., Bedos, C., Durigova, M., Montpetit, K., Wong, T., Glorieux, F. H., et al. (2013). The impact of severe osteogenesis imperfecta on the lives of young patients and their parents—a qualitative analysis. BMC Pediatrics, 13, 153. doi:10.1186/1471-2431-13-153.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Engelbert, R. H., Gulmans, V. A., Uiterwaal, C. S., & Helders, P. J. (2001). Osteogenesis imperfecta in childhood: Perceived competence in relation to impairment and disability. Archives of Physical Medicine and Rehabilitation, 82(7), 943–948.

    Article  CAS  PubMed  Google Scholar 

  33. Engelbert, R. H., Uiterwaal, C. S., Gerver, W., van der Net, J., Pruijs, H. E., & Helders, P. J. (2004). Osteogenesis imperfecta in childhood: Impairment and disability. A prospective study with 4-year follow-up. Archives of Physical Medicine and Rehabilitation, 85(5), 772–778.

    Article  PubMed  Google Scholar 

  34. Engelbert, R. H., van der Graaf, Y., van Empelen, R., Beemer, F. A., & Helders, P. J. (1997). Osteogenesis imperfecta in childhood: Impairment and disability. Pediatrics, 99(2), E3.

    Article  CAS  PubMed  Google Scholar 

  35. Engelbert, R. H. H., Beemer, F. A., van der Graaf, Y., & Helders, P. J. M. (1999). Osteogenesis imperfecta in childhood: Impairment and disability—a follow-up study. Archives of Physical Medicine and Rehabilitation, 80(8), 896–903.

    Article  CAS  PubMed  Google Scholar 

  36. Engelbert, R. H. H., Custers, J. W. H., van der Net, J., van der Graaf, Y., Beemer, F. A., & Helders, P. J. M. (1997). Functional outcome in osteogenesis imperfecta: Disability profiles using the PEDI. Pediatric Physical Therapy, 9(1), 18–22.

    Article  Google Scholar 

  37. Fano, V., del Pino, M., Rodriguez Celin, M., Buceta, S., & Obregon, M. G. (2013). Osteogenesis imperfecta: Quality of life in children. Archivos Argentinos de Pediatría, 111(4), 328–331. doi:10.1590/S0325-00752013000400012.

    Article  PubMed  Google Scholar 

  38. Kok, D. H., Sakkers, R. J., Janse, A. J., Pruijs, H. E., Verbout, A. J., Castelein, R. M., et al. (2007). Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): A 2-year randomized placebo-controlled trial. [Randomized Controlled Trial Research Support, Non-US Gov’t]. European Journal of Pediatrics, 166(11), 1155–1161.

    Article  PubMed  Google Scholar 

  39. Lowing, K., Astrom, E., Oscarsson, K. A., Soderhall, S., & Eliasson, A. C. (2007). Effect of intravenous pamidronate therapy on everyday activities in children with osteogenesis imperfecta. [Evaluation Studies Research Support, Non-US Gov’t]. Acta Paediatrica, 96(8), 1180–1183.

    Article  PubMed  Google Scholar 

  40. Montpetit, K., Dahan-Oliel, N., Ruck-Gibis, J., Fassier, F., Rauch, F., & Glorieux, F. (2011). Activities and participation in young adults with osteogenesis imperfecta [Comparative Study]. Journal of Pediatric Rehabilitation Medicine, 4(1), 13–22. doi:10.3233/PRM-2011-0149.

    PubMed  Google Scholar 

  41. Nicolaou, N., Bowe, J. D., Wilkinson, J. M., Fernandes, J. A., & Bell, M. J. (2011). Use of the Sheffield telescopic intramedullary rod system for the management of osteogenesis imperfecta: Clinical outcomes at an average follow-up of nineteen years. Journal of Bone and Joint Surgery, American, 93(21), 1994–2000.

    Article  Google Scholar 

  42. Sousa, T., Bompadre, V., & White, K. K. (2014). Musculoskeletal functional outcomes in children with osteogenesis imperfecta: Associations with disease severity and pamidronate therapy. Journal of Pediatric Orthopedics, 34(1), 118–122. doi:10.1097/BPO.0b013e3182a006a0.

    Article  PubMed  Google Scholar 

  43. Suskauer, S. J., Cintas, H. L., Marini, J. C., & Gerber, L. H. (2003). Temperament and physical performance in children with osteogenesis imperfecta. Pediatrics, 111(2), 9p.

    Article  Google Scholar 

  44. Tolboom, N., Cats, E. A., Helders, P. J., Pruijs, J. E., & Engelbert, R. H. (2004). Osteogenesis imperfecta in childhood: Effects of spondylodesis on functional ability, ambulation and perceived competence. European Spine Journal, 13(2), 108–113.

    Article  CAS  PubMed  Google Scholar 

  45. Widmann, R. F., Bitan, F. D., Laplaza, F. J., Burke, S. W., DiMaio, M. F., & Schneider, R. (1999). Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta. Spine, 24(16), 1673–1678. doi:10.1097/00007632-199908150-00008.

    Article  CAS  PubMed  Google Scholar 

  46. Carmoy, R. (2004). Children and adolescents with brittle bones: How can they overcome their disability? [Empirical Study; Quantitative Study]. Neuropsychiatrie de l’Enfance et de l’Adolescence, 52(6), 422–429. doi:10.1016/j.neurenf.2004.07.004.

    Article  Google Scholar 

  47. Glorieux, F. H., Bishop, N. J., Plotkin, H., Chabot, G., Lanoue, G., & Travers, R. (1998). Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. The New England Journal of Medicine, 339(14), 947–952.

    Article  CAS  PubMed  Google Scholar 

  48. Lavigne, J. V., & Faier-Routman, J. (1992). Psychological adjustment to pediatric physical disorders: A meta-analytic review. Journal of Pediatric Psychology, 17(2), 133–157.

    Article  CAS  PubMed  Google Scholar 

  49. Bennett, D. S. (1994). Depression among children with chronic medical problems: A meta-analysis. Journal of Pediatric Psychology, 19(2), 149–169.

    Article  CAS  PubMed  Google Scholar 

  50. Barlow, J. H., & Ellard, D. R. (2006). Review article: The psychosocial well-being of children with chronic disease, their parents and siblings: An overview of the research evidence base. Child: Care, Health and Development, 32(1), 19–31.

    CAS  Google Scholar 

  51. van Brussel, M., van der Net, J., Hulzebos, E., Helders, P. J. M., & Makken, T. (2011). The Utrecht approach to exercise in chronic childhood conditions: The decade in review. Pediatric Physical Therapy, 23(1), 2–14. doi:10.1097/PEP.0b013e318208cb22.

    Article  PubMed  Google Scholar 

  52. Eiser, C., Eiser, J., & Stride, C. (2005). Quality of life in children newly diagnosed with cancer and their mothers. Health and Quality of Life Outcomes, 3(1), 1–5.

    Article  Google Scholar 

  53. Gillespie, C. A., Woodgate, R. L., Chalmers, K. I., & Watson, W. T. (2007). “Living with risk”: Mothering a child with food-induced anaphylaxis. Journal of Pediatric Nursing, 22(1), 30–42.

    Article  PubMed  Google Scholar 

  54. MuÒoz-Furlong, A. (2003). Daily coping strategies for patients and their families. Pediatrics, 111(6), 1654–1661.

    Google Scholar 

  55. Ahern, N. R. (2006). Adolescent resilience: An evolutionary concept analysis. Journal of Pediatric Nursing, 21(3), 175–185.

    Article  PubMed  Google Scholar 

  56. Woodgate, R. L. (1999). Conceptual understanding of resilience in the adolescent with cancer: Part I. Journal of Pediatric Oncology Nursing: Official journal of the Association of Pediatric Oncology Nurses, 16(1), 35–43.

    CAS  Google Scholar 

  57. Bluebond-Langner, M. (1978). The private worlds of dying children. Princeton, NJ: Princeton University Press.

    Google Scholar 

  58. Turkel, S., & Pao, M. (2007). Late consequences of chronic pediatric illness. The Psychiatric clinics of North America, 30(4), 819–835.

    Article  PubMed  PubMed Central  Google Scholar 

  59. Alderfer, M. A., Long, K. A., Lown, E. A., Marsland, A. L., Ostrowski, N. L., Hock, J. M., et al. (2010). Psychosocial adjustment of siblings of children with cancer: A systematic review. PON Psycho-Oncology, 19(8), 789–805.

    Article  Google Scholar 

  60. Van Dongen-Melman, J. E. W. M., & Sanders-Woudstra, J. A. R. (1986). Psychosocial aspects of childhood cancer: A review of the literature*. JCPP Journal of Child Psychology and Psychiatry, 27(2), 145–180.

    Article  PubMed  Google Scholar 

  61. Modi, A. C., Pai, A. L., Hommel, K. A., Hood, K. K., Cortina, S., Hilliard, M. E., et al. (2012). Pediatric self-management: A framework for research, practice, and policy. Pediatrics, 129(2), 379.

    Article  Google Scholar 

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Acknowledgments

We are grateful for the support of Ms. Angella Lambrou, McGill University’s Ingram School of Nursing Librarian. We would like to thank Guylaine Bedard for the creation of Fig. 2. Finally, this review benefited from the generous and insightful comments of our reviewers.

Funding

This study was generously supported by Dr. Susan French, Mr. Richard Ingram and the Newton Foundation, Tunis Shriners, and the Quebec Nursing Intervention Research Network [www.rrisiq]. A. Michalovic was the recipient of the Shriners Hospitals for Children® First Lady Helen Lemieux Internship Program “Straight from the Heart”.

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Authors and Affiliations

  1. Ingram School of Nursing, Faculty of Medicine, McGill University, Wilson Hall, 3506 University St., Montreal, QC, H3A 2A7, Canada

    Argerie Tsimicalis, Gabrielle Denis-Larocque, Alisha Michalovic, Carolann Lepage, Karl Williams & Tian-Ran Yao

  2. Shriners Hospitals for Children-Canada, Montreal, QC, Canada

    Argerie Tsimicalis, Telma Palomo, Noemi Dahan-Oliel & Frank Rauch

  3. Bone and Mineral Unit, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil

    Telma Palomo

  4. School of Physical and Occupational Therapy, Faculty of Medicine, McGill University, Montreal, QC, Canada

    Noemi Dahan-Oliel

  5. CHU Ste-Justine, Montreal, QC, Canada

    Sylvie Le May

  6. Faculty of Nursing, University of Montreal, Montreal, QC, Canada

    Sylvie Le May

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  1. Argerie Tsimicalis
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  2. Gabrielle Denis-Larocque
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  3. Alisha Michalovic
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  4. Carolann Lepage
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  5. Karl Williams
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  6. Tian-Ran Yao
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  7. Telma Palomo
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  8. Noemi Dahan-Oliel
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  10. Frank Rauch
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Correspondence to Argerie Tsimicalis.

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Tsimicalis, A., Denis-Larocque, G., Michalovic, A. et al. The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review. Qual Life Res 25, 1877–1896 (2016). https://doi.org/10.1007/s11136-016-1247-0

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