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Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

Ruiyang Ge1,2, Christopher R K Ching3, Anne S Bassett4,5,6,7

  • 1Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.

Human Brain Mapping
|January 15, 2024
PubMed
Summary
This summary is machine-generated.

22q11.2 deletion syndrome (22q11DS) causes distinct brain structure changes, particularly in the cerebellum, not diffuse damage. These patterns suggest early neurodevelopmental issues in individuals with this common microdeletion.

Keywords:
22q11 deletion syndromegray matter volumemagnetic resonnance imagingsource-based morphometry

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Area of Science:

  • Neuroimaging
  • Human Genetics
  • Developmental Neuroscience

Background:

  • 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion, linked to brain structure alterations and neuropsychiatric conditions.
  • Existing research indicates reduced gray matter volume (GMV) in 22q11DS, but the specific spatial patterns of these changes remain unclear.
  • Understanding the distinct structural patterns in 22q11DS is crucial for elucidating its neurobiological underpinnings.

Purpose of the Study:

  • To investigate whether GMV alterations in 22q11DS manifest in distinct structural patterns.
  • To identify specific brain structural patterns associated with 22q11DS using a novel source-based morphometry (SBM) pipeline.
  • To explore the relationship between deletion size, intelligence quotient, psychosis, and these structural brain patterns (SBPs).

Main Methods:

  • Utilized structural T1-weighted MRI scans from 783 participants (470 with 22q11DS, 313 controls) across 13 datasets.
  • Applied a novel SS-Detect SBM pipeline to segment GMV and generate 17 structural brain patterns (SBPs) capturing co-varying GMV.
  • Analyzed the impact of 22q11.2 deletion, deletion size, IQ, and psychosis history on the derived SBPs.

Main Results:

  • Seventeen GMV-SBPs were identified, revealing widespread differences in GMV covariance, notably including the cerebellum, distinguishing 22q11DS from controls.
  • Larger deletion size correlated with reduced GMV in frontal and occipital SBPs.
  • Psychosis history did not show a strong association with these specific covariance patterns.

Conclusions:

  • 22q11DS is associated with distinct, non-random structural brain abnormalities characterized by topographical GMV covariance patterns, including cerebellar involvement.
  • These findings suggest that structural anomalies in 22q11DS arise from disturbances in early neurodevelopment rather than a diffuse process.
  • The identified SBP abnormalities align with previous findings of cortical surface area abnormalities, reinforcing the neurodevelopmental hypothesis.