Evidence map›Paper›PMID 40602048›Full record

Observational studyPediatric neurology2025

Impact of CLN3 Disease on Child Quality of Life and Family Function.

Jennifer Vermilion, Erika F Augustine, Jonathan W Mink, Michael P McDermott, Amy Vierhile, Marianna Pereira-Freitas, Heather R Adams

Abstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study 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

7 authors.

Jennifer VermilionDepartment of Neurology, University of Rochester Medical Center, Rochester, New York. Electronic address: Jennifer_vermilion@urmc.rochester.edu.
Erika F AugustineKennedy Krieger Institute, Baltimore, Maryland.
Jonathan W MinkConsultant, Pittsford, New York.
Michael P McDermottDepartment of Biostatistics and Computational Biology, University of Rochester Medical Center, Rochester, New York.
Amy VierhileDepartment of Neurology, University of Rochester Medical Center, Rochester, New York.
Marianna Pereira-FreitasDepartment of Neurology, University of Rochester Medical Center, Rochester, New York.
Heather R AdamsDepartment of Neurology, University of Rochester Medical Center, Rochester, New York.

Funding

Training & EducationU54NS065768 · NINDS · UNIVERSITY OF MINNESOTA · PI WHITLEY, CHESTER B. · 2009 to 2024
$17.7M
Meaningful Outcomes and Multi-Site Readiness for Clinical Trials in Juvenile Neuronal Ceroid LipofuscinosisU01NS101946 · NINDS · UNIVERSITY OF ROCHESTER · PI AUGUSTINE, ERIKA · 2019 to 2024
$3.7M
Clinical and Neuropsychological Investigations in Batten DiseaseR01NS060022 · NINDS · UNIVERSITY OF ROCHESTER · PI MINK, JONATHAN W. · 2007 to 2010
$1.2M
Neurobehavioral Outcomes of Degenerative Neurologic Disease in ChildhoodK23NS058756 · NINDS · UNIVERSITY OF ROCHESTER · PI ADAMS, HEATHER · 2008 to 2012
$602k
NINDS NIH HHS K23 NS058756NINDS NIH HHS R01 NS060022NINDS NIH HHS U01 NS101946NINDS NIH HHS U54 NS065768
6 · The paper itself

Abstract

backgroundCLN3 disease is a rare inherited neurodegenerative disease that typically starts in childhood. Given the progressive nature of the disease, it likely affects the health-related quality of life (HRQOL) of both the child and the family unit. In this study, we evaluated HRQOL and family function in individuals with CLN3 disease and their families.

methodsData were obtained from longitudinal observational studies on CLN3 disease at the University of Rochester Batten Center. Assessments were completed at variable intervals from 2006 to 2024. Parents completed the PedsQL, which assesses child HRQOL, and the PedsQL FIM, which assess family impact. In a subset of participants, we concurrently administered the Unified Batten Disease Rating Scale, a global assessment of CLN3 disease.

resultsData from 71 participants were included in this study, of which 21 participants had concurrent Unified Batten Disease Rating Scale data. Mean (SD) PedsQL Total (48.2 (19.7)) and PedsQL FIM Total (51.2 [16.5]) scores were low. Worse child HRQOL was associated with physical impairment from more severe CLN3 disease (r

conclusionsChildren with CLN3 disease and their families are at high risk of impaired HRQOL and function. This information may provide important information for clinical care and trial design in CLN3 disease.

Indexed as

FamilyNeuronal Ceroid-LipofuscinosesQuality of LifeAdolescentChildChild, PreschoolFemaleHumansLongitudinal StudiesMaleMembrane GlycoproteinsMolecular ChaperonesCLN3 protein, humanMembrane GlycoproteinsMolecular ChaperonesBatten diseaseFamily functionHealth-related quality of lifeNeurodegenerationNeuronal ceroid lipofuscinosis

Identifiers

PMID40602048
PMCPMC12236447

What OpenQuestion holds

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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.