{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:40:35Z","timestamp":1777804835258,"version":"3.51.4"},"reference-count":78,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T00:00:00Z","timestamp":1729468800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Fondation Le Tout pour Loo"},{"name":"Fondation Les Amis d\u2019Elliot"},{"DOI":"10.13039\/501100020867","name":"Montreal Children\u2019s Hospital Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100020867","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Background: RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents\u2019 disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy. Methods: 43 parents of 32 children completed questionnaires on demographics, stress, quality of life, coping mechanisms, and experience of injustice. Detailed clinical data was collected from all patients. Results: Mothers ( t[27] = \u20138.66, P\u2009&lt;\u2009.001) and fathers (t[16] = \u20134.47, P\u2009&lt;\u2009.001) had lower quality of life scores compared to the normative population, yet 80% of parents\u2019 stress scores fell within the normal stress range. Parents\u2019 experience of injustice scores were high (&gt;60). Correlations were found between and within parents\u2019 scores. Years since disease onset and certain life circumstances correlated to mothers\u2019 quality of life scores; however, no correlation was found between modifiable factors and fathers\u2019 quality of life scores. Helpful coping mechanisms included those that allowed parents to be involved in their child's life. Conclusions: This is the first study to assess stress and quality of life in this population. These results shed light on the importance of implementing services and social support to improve the well-being of parents.<\/jats:p>","DOI":"10.1177\/08830738241283171","type":"journal-article","created":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T04:14:22Z","timestamp":1729484062000},"page":"26-38","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5449-1229","authenticated-orcid":false,"given":"Laura","family":"Lentini","sequence":"first","affiliation":[{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, QC, 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