ArticlePediatric neurology2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.
Article in Pediatric neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
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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.
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.
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Who cites it
1 citing paper in PubMed.
- Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.Molecular genetics and metabolism · 2026Article
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Authors and funding
17 authors.
Funding
Abstract
backgroundPediatric-onset TUBB4A-related leukodystrophy (TUBB4A-LD) is a rare, progressive genetic disorder affecting white matter, caused by gain-of-function mutations in TUBB4A. It leads to severe neurological disabilities across cognitive and functional dimensions and exhibits broad phenotypic heterogeneity. To date, no study has examined the impact of TUBB4A-LD on the lives of affected individuals and their caregivers.
methodsThe administration of the Vineland Adaptive Behavior Scales 3
resultsOverall, 58 caregivers participated in the study. The VABS-3 (n = 58) demonstrated a lesser impact on the Communication and Socialization Domains compared to Activities of Daily Living and Motor Domains (mixed effect analysis with multiple comparisons with Bonferroni's correction, Communication: Activity of Daily Living P = 0.003, other comparisons P < 0.0001). The CPCHILD (n = 56), Pediatric Quality of Life-Generic Core (n = 47), Care Quality of Life (n = 54), and PedsQL-FI (n = 47) showed relevant impairment in motor abilities and daily living activities, aligning closely with the VABS-3 profile. The CPCHILD and PedsQL-FI demonstrated superior performance in our cohort.
conclusionsThrough standardized surveys and outcome assessments, we demonstrate the severe impact of TUBB4A-LD on the quality of life of affected subjects and their caregivers, who experience impairments in motor and expressive language abilities. These results will inform the design of future patient-centric clinical trials.
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