Medicine
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This repository contains the published and unpublished research of the Faculty of Medicine by the staff members of the faculty
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Item 6460 Children’s perception of the health effects of climate change – a mixed-method study in urban Sri Lanka(BMJ, 2024) Dayasiri, K.; Anand, G.OBJECTIVES While children bear the least responsibility for global climate change, they suffer the most from its consequences, including a higher incidence of non-communicable diseases and exposure to natural disasters. The United Nations has emphasised that failing to act on climate change infringes upon children’s rights to live in a secure environment. Our study focuses on examining the perspectives of Sri Lankan adolescents on climate change, its effects, and their roles in addressing this issue.METHODS This mixed-method cross-sectional study involved 104 adolescents attending schools in Colombo, Sri Lanka. We randomly selected participants from both governmental and private schools and invited them to complete a self-administered questionnaire. The questionnaire covered their perceptions of climate change, their contributions to addressing climate change, and their views on the regional and global implications of climate change. Qualitative data analysis was conducted using a second-order descriptive analysis of themes.RESULTS 104 adolescents participated in the study and 75.8% were female children. Median age =17 years (range 13–19 years). Majority (93.1%) expressed concern about the potential future health impacts of climate change. While most adolescents correctly understood the concept of climate change, some revealed misconceptions about it. The major health impacts associated with climate change, as reported by the participants, included asthma, the rise of non-communicable diseases, skin conditions, cancer, and increased stress. Notably, 25% of the participants felt that they had not received education on climate change. Nearly 60% reported feeling anxious over the issue of climate change. Regarding their contributions to addressing climate change, 29.8% of the children admitted that they had not taken sufficient actions. However, those who had acted mentioned activities such as tree planting, increased use of public transportation, and educating others about climate change. Almost half of the cohort were unaware of useful resources for learning about climate change. A significant 76% of the adolescents believed that adults were not actively taking measures to address climate change.CONCLUSION This study showed that children are evidently anxious over the issue of climate change. There is an urgent need for improved awareness of information sources among children through public health measures. It is essential for adults including those in the medical profession to serve as role models in educating and guiding children on how to make a positive impact on global climate change.Item Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs(Hacettepe Medical Center, 2023) Lee, J.; Millington, P.; Dayasiri, K.; Ramdas, S.; Jayawant, S.; Anand, G.BACKGROUND: Spinal muscular atrophy with lower extremity predominance (SMA-LED) is an autosomal dominant disorder. Since SMA-LED affects lower motor neurons, the disease is characterized by weakness and atrophy of lower limb muscles. We present a familial case series of SMA-LED with upper motor neuron signs associated with a rare variant in DYNC1H1. CASE: The index case was referred to Pediatric Neurology at the age of two and half years, due to delayed mobility. The child was diagnosed with congenital vertical talus at birth, which was managed with serial bilateral casting and surgery. The delayed mobility was initially attributed to lower limb weakness secondary to prolonged periods of immobilization from casting of his lower limbs. He had a striking waddling gait and proximal muscle weakness on neurological assessment. He had lower motor neuron signs predominantly in his lower limbs that were in keeping with SMA-LED. Surprisingly, he also demonstrated a brisk crossed adductor response that was not in keeping with an isolated primary neuro-muscular disorder and suggested a mixed upper and lower motor neuron pathology. The inherited neuropathy gene panel revealed a heterozygous sequence change in the DYNC1H1 gene which was present in all affected family members. CONCLUSIONS: We present the first report of a familial case series of SMA-LED with upper motor neuron signs associated with an extremely rare variant in DYNC1H1: c.1808A > T (p.Glu603Val). As per the American College of Medical Genetics and Genomics (ACMG) guidelines for variant classification, we would recommend that this variant be reclassified as `Likely Pathogenic` due to matching 1 moderate (PM1-PM6) and ≥4 supporting (PP1-PP5) criteria in the reported case series.