Evidence map›Paper›PMID 34546362›Full record

ArticleCerebral cortex (New York, N.Y. : 1991)2022

Neuroanatomical Profile of Young Females with Fragile X Syndrome: A Voxel-Based Morphometry Analysis.

Cindy H Lee, Kristi L Bartholomay, Matthew J Marzelli, Jonas G Miller, Jennifer L Bruno, Amy A Lightbody, Allan L Reiss

Open access · greenAbstract read
In one paragraph

Article in Cerebral cortex (New York, N.Y. : 1991), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.6field-weighted citation impact, top 16% of its field
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

9 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in aProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2024
    Article
  8. Article
  9. Article
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 at 2 institutions in 1 country.

Cindy H LeeDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0002-8296-9362
Kristi L BartholomayDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0002-6505-403X
Matthew J MarzelliDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0001-9171-4161
Jonas G MillerDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.ORCID 0000-0001-7061-3900
Jennifer L BrunoDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.
Amy A LightbodyDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.
Allan L ReissDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA 94305, USA.
Stanford University · USPalo Alto University · US

Funding

NEUROPSYCHIATRIC-MOLECULAR ASSOCIATIONS IN FRAGILE X SYNR01MH050047 · NIMH · STANFORD UNIVERSITY · PI REISS, ALLAN L · 1993 to 2022
$12.5M
TRAINING FOR CHILD PSYCHIATRY AND CHILD DEVELOPMENTT32MH019908 · NIMH · STANFORD UNIVERSITY · PI IAN H GOTLIB, DAVID S HONG · 1993 to 2026
$6.3M
NIMH NIH HHS R01 MH050047NIMH NIH HHS T32 MH019908
6 · The paper itself

Abstract

Fragile X syndrome is a genetic condition associated with alterations in brain and subsequent cognitive development. However, due to a milder phenotype relative to males, females with fragile X syndrome are underrepresented in research studies. In the current study, we investigate neuroanatomical differences in young females (age range: 6.03-16.32 years) with fragile X syndrome (N = 46) as compared to age-, sex-, and verbal abilities-matched participants (comparison group; N = 35). Between-group analyses of whole-brain and regional brain volumes were assessed using voxel-based morphometry. Results demonstrate significantly larger total gray and white matter volumes in girls with fragile X syndrome compared to a matched comparison group (Ps < 0.001). In addition, the fragile X group showed significantly larger gray matter volume in a bilateral parieto-occipital cluster and a right parieto-occipital cluster (Ps < 0.001). Conversely, the fragile X group showed significantly smaller gray matter volume in the bilateral gyrus rectus (P < 0.03). Associations between these regional brain volumes and key socio-emotional variables provide insight into gene-brain-behavior relationships underlying the fragile X syndrome phenotype in females. These findings represent the first characterization of a neuroanatomical phenotype in a large sample of girls with fragile X syndrome and expand our knowledge about potential neurodevelopmental mechanisms underlying cognitive-behavioral outcomes in this condition.

Indexed as

Fragile X SyndromeWhite MatterBrainFemaleGray MatterHumansMagnetic Resonance ImagingMalebrain MRIbrain volumefragile X syndromeVBMvoxel-based morphometry

Identifiers

PMID34546362
PMCPMC9157289
OpenAlexW3199131576

What OpenQuestion holds

Textmetadata
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Registered trials

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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.