Patient-reported experience of clinical care of osteogenesis imperfecta (OI) during the COVID-19 pandemic.

Background: Research on the effects of the COVID-19 pandemic on people with rare diseases is limited. Few studies compare healthcare throughout the progression of the ongoing pandemic. Aims: To assess the impact of the pandemic on individuals with osteogenesis imperfecta across two consecutive years, understand what challenges were encountered, and analyse the experience of remote consultation. Methods: An initial survey was distributed following the first lockdown in August 2020, and a second survey in April 2021. The surveys explored four themes- effects on therapy, alternatives to consultation, effect on mental health, and perceived risks of COVID-19. Results: In the 2020 survey, of the 110 respondents, 69 (63%) had at least one appointment delayed due to the lockdown, compared with 89 of the 124 respondents (72%) in 2021. Of the 110 respondents in 2020, 57 (52%) had a remote consultation, increasing to 92 of 124 (74%) in the follow-up survey. In the 2020 survey 63 of 91 respondents (69%) expressed anxiety due to lockdown, compared with 76 of 124 (61%) in 2021. The percentage of total respondents expressing a preference for remote consultation was 48% in 2020, increasing to 71% in 2021. Conclusions: The pandemic has had widespread effects on the mental and physical health of those with OI. These effects, alongside appointment delays, have increased as the pandemic progresses. Encouragingly, the increasing preference for remote consultation may indicate that this could be a viable long-lasting alternative to face-to-face appointments, especially for patients who previously traveled vast distances for specialist care.

Experience of health care at a reference centre as reported by patients and parents of children with rare conditions.

BACKGROUND: Whilst diagnostic pathways for children with rare conditions have shown marked improvement, concerns remain about the care children with rare conditions receive at the level of the health care provider. There is, therefore, a need to improve our understanding of the health care received and explore the development of benchmarks that can be regularly monitored. METHODS: Patients and parents with rare conditions at a tertiary children's hospital were approached to complete a questionnaire-based survey that enquired on their experience of clinical care. The survey explored six key themes: diagnosis; provision of information; availability of support; satisfaction with healthcare team; awareness and support for life-limiting conditions; and participation in research. RESULTS: 130 questionnaires were completed on behalf of 134 patients between 2018 and 2020. Of these, 114 (85%) had received a formal diagnosis, 5 (4%) had a suspected diagnosis and 15 (11%) were undiagnosed. Of the 114 who had received a diagnosis, 24 (20%) were diagnosed within 6 months of developing symptoms, and 22 (20%) within 1-3 years. Seventy patients (53%) reported that they were given little or no information around the time of diagnosis, whilst 81 (63%) felt they were currently well supported, mostly from family members, followed by friends, hospital services, school, other community based healthcare services and lastly, primary care. Of the 127 who were asked, 88 (69%) reported a consistent team of healthcare professionals taking overall responsibility for their care, 86 (67%) felt part of the team, 74 (58%) were satisfied with the level of knowledge of the professionals, and 86 (68%) knew who to contact regarding their condition. Of the 91 who were asked, 23 (25%) were aware their child had a life limiting condition, but only 4 (17%) were receiving specialist support for this. Of 17 who were asked about research, 4 (24%) were actively participating in research, whilst the remainder were all willing to participate in future research. CONCLUSIONS: The survey provides a unique insight into the experience of patients and parents within a specialist centre and the benchmarks that it has revealed can be used for future improvement in services.

The Arclight vs. traditional ophthalmoscope: a cross-over trial.

BACKGROUND/OBJECTIVES: To compare skill acquisition of the new, cost-effective Arclight ophthalmoscope, with the traditional ophthalmoscope (TO), in medical students with no prior experience of ophthalmoscopy. SUBJECTS/METHODS: University of Dundee medical students took part in a cross-over trial. Students were divided into two groups and were alternately taught each device using a video tutorial. In period one, Group A was taught the TO first; Group B was taught the Arclight. They were then assessed using simulated objective, structured, clinical, examinations, examining four model heads with lettered fundal photographs of varying sizes of font. Groups crossed over following a 2-week washout period and were taught the second device and reassessed. A questionnaire was distributed to ascertain students' opinions and preferences. RESULTS: Forty medical students participated. Overall, 92.5% of students performed better with the Arclight, irrespective of cross-over trial period. The mean difference in score in period one of the cross-over trial was 16.77 (95% CI: 11.63-21.93), with students performing better with the Arclight (p < 0.0001). The mean difference in score in period two was 8.02 (95% CI: 4.52-11.52), with students performing better with the Arclight (p < 0.0001). In addition, performance with the TO improved by 52.9% following initial exposure to the Arclight. The Arclight was the preferred device by 82.5% of students, and 82.5% of students would choose this device for future practice. CONCLUSION: Students performed better with and preferred the Arclight ophthalmoscope. The Arclight could be considered as a suitable alternative to the TO used for training medical students.