Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Autor: Lentini L; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Toutounchi H; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Chapleau A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Le A; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Fournier S; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Emari F; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Flamini R; Panda Neurology, Atlanta, GA, USA., Rossi A; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Liguria, Italy.; Department of Health Sciences (DISSAL), University of Genoa, Genoa, Liguria, Italy., Gentile A; Medical Genetics Unit, Azienda Sanitaria Locale Bari, Bari, Puglia, Italy., Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Rome, Lazio, Italy., Nicita F; Unit of Neuromuscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Children's Hospital, Rome, Lazio, Italy., Pohl D; Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Venkateswaran S; Pediatric Neurology, Department of Pediatrics, Children's Hospital, London Health Sciences Centre, Schulich Medicine and Dentistry, Western University, London, ON, Canada., Keller S; Department of Pediatrics, Division of Pediatric Neurology, Children's Healthcare of Atlanta and Emory University, Atlanta, GA, USA., Rossignol E; Pediatric & Neuroscience Department & Brain Disease Research Group, CHU Ste-Justine, Montreal, QC, Canada., Renaud D; Division of Child and Adolescent Neurology, Departments of Neurology and Pediatrics, Mayo Clinic College of Medicine and Science, Rochester, MN, USA., Assis Pereira D; Department of Human Reproduction and Childhood, Pontifical Catholic University of São Paulo, Sorocaba, São Paulo, Brazil., Chen X; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Vanderver A; Division of Neurology, Program Director of the Leukodystrophy Center of Excellence, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Bernard G; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, QC, Canada.
Jazyk: angličtina
Zdroj: Journal of child neurology [J Child Neurol] 2025 Jan; Vol. 40 (1), pp. 26-38. Date of Electronic Publication: 2024 Oct 21.
DOI: 10.1177/08830738241283171
Abstrakt: 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' 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] = -8.66, P  < .001) and fathers (t[16] = -4.47, P  < .001) had lower quality of life scores compared to the normative population, yet 80% of parents' stress scores fell within the normal stress range. Parents' experience of injustice scores were high (>60). Correlations were found between and within parents' scores. Years since disease onset and certain life circumstances correlated to mothers' quality of life scores; however, no correlation was found between modifiable factors and fathers' 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.
Competing Interests: Declaration of Conflicting InterestsThe authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: EB has been a consultant for Orchard Therapeutics, and Advisory Board for Novartis, PTC, Biogen, Pfizer, Roche. SK is a site investigator for the Ionis Alexander disease clinical trial (2022-present) and BioMarin long-term extension study for CLN2 patients treated with Brineura (2022-present). She was also a consultant for Veristat regarding MLD (2022) and is on the board of directors for the United Leukodystrophy Foundation. ER is a consultant for Taysha Gene Therapies (2023-present) and Acadia (2023-present). She is the PI on the REVEAL trail for Rett syndrome by Taysha Gene Therapies (2022-present). She is/was a subinvestigator on a therapeutic trial by BioMarin (2021-present), Glaxo Smith Kline (2015-2016), Pfizer (2017-2018), and Acadia (2020-2021). AV receives funding from Ionis, Sana, Illumina, Orphan Disease Center, Homology, Affinia, Sanofi, Orchard therapeutics, Takeda, Biogen, Boehringer Ingelhiem, Eli Lilly, Synaptix Bio, and PMD Foundation without any personal compensation. GB is/was a consultant for Orchard Therapeutics (2023), Passage Bio Inc (2020-2022), and Ionis (2019). She is/was a site investigator for the Alexander's disease trial of Ionis (2021-present), Metachromatic leukodystrophy of Shire/Takeda (2020-2021), Krabbe (2021-2023), and GM1 gene therapy trials (2021-present) of Passage Bio, GM1 natural history study from the University of Pennsylvania sponsored by Passage Bio (2021-present) and Adrenoleukodystrophy/Hematopoietic stem cell transplantation natural history study of Bluebird Bio (2019), and a site subinvestigator for the MPS II gene therapy trial of Regenxbio (2021-present) and the MPS II clinical trial of Denali (2022-present). She has received unrestricted educational grants from Takeda (2021-2022). All other authors did not have any potential conflicts of interest with respect to the research or publication of this article.
Databáze: MEDLINE
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