TY - JOUR
T1 - The Impact of RNA Polymerase III–Related Leukodystrophy on Nonaffected Family Members
T2 - A Qualitative Study
AU - Le, Adam
AU - Thibault, Kelly Ann
AU - Yazdani, Pouneh Amir
AU - Chapleau, Alexandra
AU - van Voorst, Romy J.
AU - Bertini, Enrico
AU - Nicita, Francesco
AU - Pohl, Daniela
AU - Venkateswaran, Sunita
AU - Keller, Stephanie
AU - Renaud, Deborah
AU - Gonzalez Moron, Dolores
AU - Kauffman, Marcelo
AU - De Assis Pereira, Danilo
AU - Vanderver, Adeline
AU - van der Knaap, Marjo S.
AU - Morsa, Maxime
AU - Bernard, Geneviève
N1 - Publisher Copyright:
© 2025 The Author(s)
PY - 2025/12/16
Y1 - 2025/12/16
N2 - Background: RNA polymerase III–related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progressive nature of this disorder, parents and siblings of patients face many potential challenges and stressors. We, therefore, sought to explore parents' and siblings’ experiences to understand their specific needs and identify modifiable factors to limit familial burden and improve their quality of life. Methods: We conducted semistructured interviews with parents and siblings of patients with POLR3-HLD. Interview questions focused on the financial, emotional, and psychosocial impacts on parents, as well as siblings’ relationship with their affected sibling and the psychosocial impacts they may have experienced. All interviews were recorded, transcribed, and analyzed using reflexive thematic analysis. Through the coding process, themes surrounding the impact on and experiences of parents and siblings were developed. Results: Nineteen semistructured interviews with 24 parents and nine interviews with 9 siblings were completed between March and October 2023 and February and May 2024, respectively. Four themes from parent interviews included extensive caregiver burden, emotional and psychosocial challenges, the importance of parental self-health, and comfort in the leukodystrophy community. Three themes from sibling interviews included the spectrum of emotional impacts, limited knowledge about POLR3-HLD, and adapting to their sibling's needs. Conclusions: This study provides a comprehensive understanding of the family experience, identifying the common challenges and specific needs of parents and siblings, highlighting areas of improvement in the global care offered to this vulnerable patient population.
AB - Background: RNA polymerase III–related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, neurodegenerative, brain white matter disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Due to the complex and progressive nature of this disorder, parents and siblings of patients face many potential challenges and stressors. We, therefore, sought to explore parents' and siblings’ experiences to understand their specific needs and identify modifiable factors to limit familial burden and improve their quality of life. Methods: We conducted semistructured interviews with parents and siblings of patients with POLR3-HLD. Interview questions focused on the financial, emotional, and psychosocial impacts on parents, as well as siblings’ relationship with their affected sibling and the psychosocial impacts they may have experienced. All interviews were recorded, transcribed, and analyzed using reflexive thematic analysis. Through the coding process, themes surrounding the impact on and experiences of parents and siblings were developed. Results: Nineteen semistructured interviews with 24 parents and nine interviews with 9 siblings were completed between March and October 2023 and February and May 2024, respectively. Four themes from parent interviews included extensive caregiver burden, emotional and psychosocial challenges, the importance of parental self-health, and comfort in the leukodystrophy community. Three themes from sibling interviews included the spectrum of emotional impacts, limited knowledge about POLR3-HLD, and adapting to their sibling's needs. Conclusions: This study provides a comprehensive understanding of the family experience, identifying the common challenges and specific needs of parents and siblings, highlighting areas of improvement in the global care offered to this vulnerable patient population.
KW - Burden of disease
KW - Impact on siblings
KW - Parents and caregivers
KW - POLR3-related Leukodystrophy
KW - Rare disease
KW - Thematic analysis
UR - https://www.scopus.com/pages/publications/105027640130
UR - https://www.scopus.com/inward/citedby.url?scp=105027640130&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2025.12.004
DO - 10.1016/j.pediatrneurol.2025.12.004
M3 - Article
C2 - 41518854
AN - SCOPUS:105027640130
SN - 0887-8994
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -