ArticlePediatric neurology2025
Globally Reduced Brain Volume in Rett Syndrome.
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.
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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.
- Metformin Treatment Shows Beneficial Effects on RTT-Associated Phenotypical Deficits inPharmaceuticals (Basel, Switzerland) · 2026Article
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Authors and funding
7 authors.
Funding
Abstract
backgroundTo compare global and regional brain volumes between individuals with Rett syndrome (RTT) and two independent control groups (typically developing [TD], idiopathic developmental delay [DD]) using direct patient:control matching, higher-resolution magnetic resonance imaging (MRI) scans, and larger samples than were available in prior RTT studies.
methodsControl cohorts were age and sex matched 1:1 with RTT. We utilized the PSTAPLE algorithm to conduct MRI-based anatomic segmentations and quantify global and regional volumetry.
resultsA total of 42 subjects (14 per group) were included with mean age 8.0 years ± 6.1 S.D. (range: 1.4-20.7 years). Global and regional brain volumes were compared between groups with analysis of covariance. Intracranial cavity volume was regressed as a variable of interest; the log of age at scan was regressed as a variable of no interest. Global and regional volumes were reduced in RTT (versus DD and TD). Total gray matter was reduced by 19% in RTT (versus TD and DD). Similar volumetric reductions were noted in occipital, parietal, and temporal cortices in RTT (versus TD and DD). Cerebellar white matter was reduced in RTT (3.4%; versus DD only).
conclusionsMRI findings in individuals with RTT demonstrated global reductions in brain volume with relatively uniform involvement of cortical and subcortical structures. Cerebellar white matter volume may be reduced in individuals with RTT (versus DD). These findings underscore the importance of correcting for global volume abnormalities when assessing regional volumetry and suggest that neuroimaging evaluations may distinguish children with RTT from those with idiopathic DD.
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