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01-08-2016 | Review

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

Auteurs: Argerie Tsimicalis, Gabrielle Denis-Larocque, Alisha Michalovic, Carolann Lepage, Karl Williams, Tian-Ran Yao, Telma Palomo, Noemi Dahan-Oliel, Sylvie Le May, Frank Rauch

Gepubliceerd in: Quality of Life Research | Uitgave 8/2016

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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Titel: The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review
Auteurs: Argerie Tsimicalis
Gabrielle Denis-Larocque
Alisha Michalovic
Carolann Lepage
Karl Williams
Tian-Ran Yao
Telma Palomo
Noemi Dahan-Oliel
Sylvie Le May
Frank Rauch
Publicatiedatum: 01-08-2016
Uitgeverij: Springer International Publishing
Gepubliceerd in: Quality of Life Research / Uitgave 8/2016
Print ISSN: 0962-9343
Elektronisch ISSN: 1573-2649
DOI: https://doi.org/10.1007/s11136-016-1247-0

Bohn Stafleu van Loghum

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Abstract

Purpose

Methods

Results

Conclusion

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