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

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.

Revision of the fear of cancer recurrence cognitive and emotional model by Lee-Jones et al with women with breast cancer.

BACKGROUND: Fear of cancer recurrence (FCR) is among the top unmet concerns reported by breast cancer survivors. Despite the sizable literature on FCR, few theoretical models have been empirically tested. One of the most cited is the FCR model. AIM: This study seeks to understand the nature of women's cognitive and emotional issues from FCR using specific guidance from the model by Lee-Jones and to provide suggestions for modifications to the model based on empirical results from the reported experiences of women living with breast cancer. METHODS AND RESULTS: A qualitative descriptive study using semi-structured interviews was conducted at an urban hospital. Recruited by convenience sampling, 12 breast cancer survivors concerned with FCR and who had recently completed active treatment participated in the study. Seven thematic categories emerged from the women's descriptions of their cognitive and emotional experiences with FCR: (a) FCR is always there; (b) beliefs about risk of recurrence; (c) beliefs about eradication of cancer; (d) preferences not to seek information about recurrence; (e) derailment of normal life; (f) worries related to recurrence; and (g) need for support. Adjustments to the model by Lee-Jones et al1 specifically to women living with breast cancer include the addition of new variables-the fear is always present, a preference not to seek information, and the need for support beyond treatment-and the merging of two variables, anxiety and worry, as participants viewed these concepts as interchangeable and experienced in similar ways. Lastly, participants did not report any remorse related to not opting for more aggressive treatments. CONCLUSION: The refinement of a more comprehensive FCR theoretical model, such as through the modifications derived from this study, provides a deeper understanding of breast cancer survivors' experiences with FCR and can more effectively guide health care professionals to develop appropriately tailored interventions aimed at decreasing FCR levels.