The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review
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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.
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.
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.
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.
KeywordsOsteogenesis imperfecta Quality of life Psychological Social Pediatric Child Adult Systematic review Knowledge synthesis Mixed-methods Well-being
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.
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”.
Compliance with ethical standards
This article does not contain any studies with human participants performed by any of the authors.
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