POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System

Le, Adam; Thibault, Kelly-Ann; Yazdani, Pouneh Amir; Bertini, Enrico; Nicita, Francesco; Pohl, Daniela; Venkateswaran, Sunita; Keller, Stephanie; Renaud, Deborah; Moron, Dolores Gonzales; Kauffman, Marcelo; De Assis Pereira, Danilo; Vanderver, Adeline; Morsa, Maxime; Bernard, Geneviève

doi:10.1016/j.pediatrneurol.2025.02.011

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POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System

Le, Adam; Thibault, Kelly-Ann; Yazdani, Pouneh Amir et al.

2025 • In Pediatric Neurology

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/328975

DOI
10.1016/j.pediatrneurol.2025.02.011

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Keywords :

Qualitative Research; Reflexive Thematic Analysis; Chronic Condiiton; Patient Experience

Disciplines :

Treatment & clinical psychology

Author, co-author :

Le, Adam

Thibault, Kelly-Ann

Yazdani, Pouneh Amir

Bertini, Enrico

Nicita, Francesco

Pohl, Daniela

Venkateswaran, Sunita

Keller, Stephanie

Renaud, Deborah

Moron, Dolores Gonzales

More authors (5 more)

^✱ These authors have contributed equally to this work.

Language :

English

Title :

POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System

Publication date :

February 2025

Journal title :

Pediatric Neurology

ISSN :

0887-8994

Publisher :

Elsevier

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://api.elsevier.com/content/article/PII:S0887899425000529?httpAccept=text/xml

Funding text :

This study was supported by the Montreal Children’s Hospital Foundation (Estate of Daphne Dale Townsend) and the Fondation Les Amis d’Elliot. AL has received the RI-MUHC Desjardins Studentship Award in Child Health Research from the McGill University Health Centre Research Institute (MUHC-RI) (2023) and the Integrated Program in Neuroscience (IPN) Internal Student Award from McGill University (2023-2024). EB is supported by a Ricerca Corrente grant from the Italian Ministry of Health and by a grant from the Pelizaeus-Merzbacher Foundation. AV is funded by the RDCRN at NCATS and NINDS (U54TR002823) and the Kamens Chair in Translational Neurotherapeutics. GB has received the Clinical Research Scholar Junior 1 Award from the Fonds de Recherche du Québec-Santé (FRQS) (2012-2016), the New Investigator Salary Award from the Canadian Institutes of Health Research (CIHR) (2017-2022), the Clinical Research Scholar Senior Award from the FRQS (2022-2025), and the Chercheur de Mérite Award from the FRQS (2025-2029). All other authors did not receive any financial support relevant to this article.

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