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

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’ dise...

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Published in:Journal of child neurology 2025-01, Vol.40 (1), p.26-38
Main Authors: Lentini, Laura, Toutounchi, Helia, Chapleau, Alexandra, Le, Adam, Fournier, Simon, Emari, Fatemeh, Flamini, Robert, Rossi, Andrea, Gentile, Angela, Bertini, Enrico, Nicita, Francesco, Pohl, Daniela, Venkateswaran, Sunita, Keller, Stephanie, Rossignol, Elsa, Renaud, Deborah, Assis Pereira, Danilo De, Chen, Xiaoru, Vanderver, Adeline, Bernard, Geneviève
Format: Article
Language:English
Subjects:
Adaptation, Psychological
Adolescent
Adult
Child
Child, Preschool
Cross-Sectional Studies
Female
Humans
Male
Middle Aged
Original
Parents - psychology
Pilot Projects
Quality of Life - psychology
RNA Polymerase III - genetics
Stress, Psychological - psychology
Surveys and Questionnaires
Young Adult
Citations: Items that this one cites
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Summary: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 
ISSN:0883-0738
1708-8283
1708-8283
DOI:10.1177/08830738241283171