• Argerie Tsimicalis, Gabrielle Denis-Larocque, Alisha Michalovic, Carolann Lepage, Karl Williams, Tian-Ran Yao, Telma Palomo, Noemi Dahan-Oliel, Sylvie Le May, and Frank Rauch.
• Ingram School of Nursing, Faculty of Medicine, McGill University, Wilson Hall, 3506 University St., Montreal, QC, H3A 2A7, Canada. argerie.tsimicalis@mcgill.ca.
• Qual Life Res. 2016 Aug 1; 25 (8): 1877-96.

PurposeOsteogenesis 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.MethodsUsing 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.ResultsA 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.ConclusionThese 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.

21 keywords...

hide…