Argerie Tsimicalis1,2, Gabrielle Denis-Larocque3, Alisha Michalovic3, Carolann Lepage3, Karl Williams3, Tian-Ran Yao3, Telma Palomo4,5, Noemi Dahan-Oliel4,6, Sylvie Le May7,8, Frank Rauch4. 1. Ingram School of Nursing, Faculty of Medicine, McGill University, Wilson Hall, 3506 University St., Montreal, QC, H3A 2A7, Canada. argerie.tsimicalis@mcgill.ca. 2. Shriners Hospitals for Children-Canada, Montreal, QC, Canada. argerie.tsimicalis@mcgill.ca. 3. Ingram School of Nursing, Faculty of Medicine, McGill University, Wilson Hall, 3506 University St., Montreal, QC, H3A 2A7, Canada. 4. Shriners Hospitals for Children-Canada, Montreal, QC, Canada. 5. Bone and Mineral Unit, Division of Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil. 6. School of Physical and Occupational Therapy, Faculty of Medicine, McGill University, Montreal, QC, Canada. 7. CHU Ste-Justine, Montreal, QC, Canada. 8. Faculty of Nursing, University of Montreal, Montreal, QC, Canada.
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.
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.
Authors: Shannon Kaupp; Dan J Horan; Kyung-Eun Lim; Henry A Feldman; Alexander G Robling; Matthew L Warman; Christina M Jacobsen Journal: Bone Date: 2019-10-21 Impact factor: 4.398