Evidence map›Paper›PMID 40106878›Full record

ArticlePediatric neurology2025

POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.

Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Deborah Renaud, Dolores Gonzales Moron and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Pediatric neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Adam LeChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada.
Kelly-Ann ThibaultChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada.
Pouneh Amir YazdaniChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Lazio, Italy.
Francesco NicitaUnit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Lazio, Italy.
Daniela PohlDivision of Pediatric Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.
Sunita VenkateswaranDivision of Neurology, Children's Hospital, London Health Sciences Center, Schulich Medicine and Dentistry, Western University, London, Ontario, Canada.
Stephanie KellerDivision of Pediatric Neurology, Department of Pediatrics, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia.
Deborah RenaudDivision of Child and Adolescent Neurology, Department of Neurology and Pediatrics, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.
Dolores Gonzales MoronNeurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET-Universidad Austral, Buenos Aires, Argentina.
Marcelo KauffmanNeurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET-Universidad Austral, Buenos Aires, Argentina.
Danilo De Assis PereiraDepartment of Human Reproduction and Childhood, Pontifical Catholic University of São Paulo, Sorocaba, São Paulo, Brazil.
Adeline VanderverDivision of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Maxime MorsaAdaptation, Resilience, and Change Research Unit, Department of Psychology, Université de Liège, Liège, Belgium.
Geneviève BernardChild Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada; Department of Pediatrics, McGill University, Montréal, Québec, Canada; Department of Human Genetics, McGill University, Montréal, Québec, Canada; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, Québec, Canada. Electronic address: genevieve.bernard@mcgill.ca.

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

backgroundPOLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, inherited neurodegenerative disorder affecting white matter development of the central nervous system. This disorder is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism (4H leukodystrophy). Patients with POLR3-HLD require complex and specialized care; however, due to its rarity and limited awareness, parents often assume additional roles as experts and advocates for their child(ren). We aimed to understand parents' experiences navigating the health care landscape and to identify potential targets for improvement.

methodsResearch team members conducted semi-structured interviews with parents of patients with POLR3-HLD. Interview questions focused on the diagnostic odyssey, availability and access to care, and the perceived quality of care. Interviews were recorded, transcribed, coded, and analyzed using reflexive thematic analysis, and themes surrounding parents' health care experiences were developed.

resultsNineteen semi-structured interviews were conducted with an international cohort of 24 parents between March and October 2023. Four themes were developed: existing barriers in accessing care, limited knowledge in diagnosis and care, parents as experts and advocates of their child(ren)'s care, and perceived superior care by leukodystrophy specialists. Many parents expressed feeling alone and uncertain, with little guidance provided to them. They also identified perceived gaps in care and challenges faced but found comfort when treated by leukodystrophy experts in specialty clinics.

conclusionsThis study will help better inform health care providers, administrators, and policymakers to expand and improve access to quality care for patients with POLR3-HLD and their families. These conclusions may also be generalizable to other rare diseases.

Indexed as

Health Services AccessibilityHereditary Central Nervous System Demyelinating DiseasesParentsQuality of Health CareRNA Polymerase IIIAdolescentAdultChildChild, PreschoolFemaleHumansMaleQualitative ResearchRNA Polymerase IIIAccess to careHealth care experiencesParents/caregiversPOLR3-related leukodystrophyQuality of careRare diseaseThematic analysis

Identifiers

PMID40106878
PMCPMC12289442

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.