Leigh syndrome global patient registry: uniting patients and researchers worldwide.

BACKGROUND: Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researchers and industry partners to access data at no cost through a clear and transparent process, active patient engagement, and sharing of results back to the community. RESULTS: Patient registry platform, survey design, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, symptom history, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden for 116 participants. Results show a high disease burden, but a relatively short time to diagnosis. Despite the challenges faced by families impacted by Leigh syndrome, participants, in general, are described as having a good quality of life and caregivers are overall resilient, while also reporting a significant amount of stress. CONCLUSION: This registry provides a straightforward, no-cost mechanism for data sharing and contacting patients for clinical trials or research participation, which is important given the recruitment challenges for clinical trials for rare diseases. This is the first publication to present results from a global patient registry for Leigh Syndrome, with details on a variety of patient-specific and caregiver outcomes reported for the first time. Additionally, this registry is the first for any mitochondrial disease with nearly 70% of participants residing outside of the United States. Future efforts include continued publication of results and further collaboration with patients, industry partners, and researchers.

Mental health initiatives: Providing stress management, wellness, and mindfulness workshops on college campuses.

Objective: College students experience stressors that can increase the risk for mental health concerns and negatively impact retention rates. It is crucial for practitioners working on college campuses to find creative ways to meet the needs of their students and cultivate a campus culture that is dedicated to bolstering mental health. The purpose of this study was to explore if implementing 1-h mental health workshops covering stress management, wellness, mindfulness, and SMART goals was feasible and advantageous for students. Participants: Researchers hosted 1-h workshops in 13 classrooms. Participants included 257 students who completed the pretest and 151 students who completed the post-test. Methods: A quasi-experimental 1-group pre- and post-test design was utilized. Results: Means and standard deviations were utilized to examine knowledge, attitudes, and intentions in each domain. Results indicated statistically significant improvements in each. Conclusion: Implications and interventions are provided for mental health practitioner working on college campuses.

Sex at every size: A content analysis of weight inclusivity in sexual functioning research.

Sexual functioning research has been slow to address sizeism within its volumes. Much of the sexual health science has adopted a weight normative model rather than a weight inclusive model. The purpose of this study was to, through systematic literature review, describe the sexual functioning research landscape with respect to weight inclusivity. The review included three databases (Google Scholar, Medline and Ebsco) between 2010 and 2020. Each article was double coded for weight inclusivity and sexual functioning. Sixty-seven articles met the criteria and were included in analysis. The articles, overall, only endorsed weight inclusive tenets 16 % of the time. Articles were most weight inclusive when discussing sexual satisfaction (22.5 %). Meanwhile, when discussing sexual arousal, the articles were the least weight inclusive (16.7 %). These findings suggest there is needs to be greater education and intention for sex educators, therapists, and clinicians, to explore and enhance body positivity and sexual health.