Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta

Background: Osteogenesis imperfecta (OI) is a group of genetic disorders of collagen biosynthesis, characterized by low bone density leading to fractures. Most patients exhibit functional impairment and require the aid of a caregiver. The aim of this study is to assess the quality of life (QoL) of caregivers of patients with OI. Methods: In this cross-sectional study, a convenience sampling strategy was used to enroll adult caregivers of children and adolescents with OI who attended a referral center in southern Brazil. The WHOQOL-BREF instrument was used to assess QoL. Results: Twenty-four caregivers of 27 patients (10 with type I, 4 with type III, and 13 with type IV OI) were included in the study. Eighteen caregivers were the patients’ mothers, two had OI, and 22 cared for only one patient. Mean WHOQOL-BREF scores were 14.59 for the physical health domain, 13.80 for the psychological domain, 15.19 for the social relationships domain, and 12.87 for the environmental domain; the mean total QoL score was 14.16. QoL scores did not differ significantly according to patients’ OI type or number of fractures. Economic status was not correlated significantly with QoL scores. Conclusions: QoL appears to be impaired in caregivers of patients with OI. Additional studies are required to confirm these findings and to ascertain which factors account for this phenomenon

The co-development of a linguistic and culturally tailored tele-retinopathy screening intervention for immigrants living with diabetes from China and African-Caribbean countries in Ottawa, Canada

Background: Diabetic retinopathy is a sight-threatening ocular complication of diabetes. Screening is an effective way to reduce severe complications, but screening attendance rates are often low, particularly for newcomers and immigrants to Canada and people from cultural and linguistic minority groups. Building on previous work, in partnership with patient and health system stakeholders, we co-developed a linguistically and culturally tailored tele-retinopathy screening intervention for people living with diabetes who recently immigrated to Canada from either China or African-Caribbean countries. Methods: Following an environmental scan of diabetes eye care pathways in Ottawa, we conducted co-development workshops using a nominal group technique to create and prioritize personas of individuals requiring screening and identify barriers to screening that each persona may face. Next, we used the Theoretical Domains Framework to categorize the barriers/enablers and then mapped these categories to potential evidence-informed behaviour change techniques. Finally with these techniques in mind, participants prioritized strategies and channels of delivery, developed intervention content, and clarified actions required by different actors to overcome anticipated intervention delivery barriers. Results: We carried out iterative co-development workshops with Mandarin and French-speaking individuals living with diabetes (i.e., patients in the community) who immigrated to Canada from China and African-Caribbean countries (n = 13), patient partners (n = 7), and health system partners (n = 6) recruited from community health centres in Ottawa. Patients in the community co-development workshops were conducted in Mandarin or French. Together, we prioritized five barriers to attending diabetic retinopathy screening: language (TDF Domains: skills, social influences), retinopathy familiarity (knowledge, beliefs about consequences), physician barriers regarding communication for screening (social influences), lack of publicity about screening (knowledge, environmental context and resources), and fitting screening around other activities (environmental context and resources). The resulting intervention included the following behaviour change techniques to address prioritized local barriers: information about health consequence, providing instructions on how to attend screening, prompts/cues, adding objects to the environment, social support, and restructuring the social environment. Operationalized delivery channels incorporated language support, pre-booking screening and sending reminders, social support via social media and community champions, and providing using flyers and videos as delivery channels. Conclusion: Working with intervention users and stakeholders, we co-developed a culturally and linguistically relevant tele-retinopathy intervention to address barriers to attending diabetic retinopathy screening and increase uptake among two under-served groups

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.

BACKGROUND: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease. RESULTS: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. For the economic simulation, we considered a hypothetical treatment that would be applied to OI participants in the lower tertile of the health utility score. A total of 109 study participants fully completed the EQ-5D-5 L questionnaire (response rate 63%). Pain/discomfort was the most problematic domain for participants with all three diseases (FD 31%, XLH 25%, OI 16%). The economic simulation identified an expected treatment impact of +2.5 QALYs gained per person during the 10-year period, which led to a willing to pay of £14,355 annually for a health care system willing to pay up to £50,000 for each additional QALY gained by an intervention. CONCLUSIONS: This is the first study to quantitatively measure and compare the HRQoL of adults with OI, FD and XLH and the first to use such data to conduct an economic simulation leading to healthcare system willingness-to-pay estimates for treatment of musculoskeletal rare diseases at various cost-effectiveness thresholds

A structural equation analysis on the relationship between maternal health services utilization and newborn health outcomes: a cross-sectional study in Eastern Uganda

Abstract Background Neonatal and maternal health services have a bearing on neonatal mortality. Direct and indirect factors affecting neonatal health outcomes therefore require understanding to enable well-targeted interventions. This study, therefore, assessed the interrelationship between newborn health outcomes and maternal service utilization factors. Methods We investigated maternal health utilization factors using health facility delivery and at least four Antenatal Care (ANC) visits; and newborn health outcomes using newborn death and low birth weight (LBW). We used data from a household cross-sectional survey that was conducted in 2015 in Kamuli, Pallisa and Kibuku districts. We interviewed 1946 women who had delivered in the last 12 months. The four interrelated (Endogenous) outcomes were ANC attendance, health facility delivery, newborn death, and LBW. We performed analysis using a structural equation modeling technique. Results A history of newborn death (aOR = 12.64, 95% CI 5.31–30.10) and birth of a LBW baby (aOR = 3.51, 95% CI 1.48–8.37) were directly related to increased odds of newborn death. Factors that reduced the odds of LBW as a mediating factor for newborn death were ANC fourth time attendance (aOR = 0.62, 95% CI 0.45–0.85), having post-primary level education (aOR = 0.68, 95% CI 0.46–0.98) compared to none and being gravida three (aOR = 0.49, 95% CI 0.26–0.94) compared to being gravida one. Mother’s age group, 20–24 (aOR = 0.24, 95% CI 0.08–0.75) and 25–29 years (aOR = 0.20, 95% CI 0.05–0.86) compared to 15–19 years was also associated with reduced odds of LBW. Additionally, ANC visits during the first trimester (aOR = 2.04, 95% CI 1.79–2.34), and village health teams (VHTs) visits while pregnant (aOR = 1.14, 95% CI 1.01–1.30) were associated with increased odds of at least four ANC visits, which is a mediating factor for health facility delivery, LBW and newborn death. Surprisingly, newborn death was not significantly different between health facility and community deliveries. Conclusions Attending ANC at least four times was a mediating factor for reduced newborn death and low birth weight. Interventions in maternal health and newborn health should focus on factors that increase ANC fourth time attendance and those that reduce LBW especially in resource-limited settings. Targeting women with high-risk pregnancies is also crucial for reducing newborn deaths