Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome
Journal
Human Brain Mapping
ISSN
1065-9471
1097-0193
Date Issued
2024
Author(s)
Ruiyang Ge
Christopher R. K. Ching
Anne S. Bassett
Leila Kushan
Kevin M. Antshel
Therese van Amelsvoort
Geor Bakker
Nancy J. Butcher
Linda E. Campbell
Eva W. C. Chow
Michael Craig
Nicolas A. Crossley
Adam Cunningham
Eileen Daly
Joanne L. Doherty
Courtney A. Durdle
Beverly S. Emanuel
Ania Fiksinski
Jennifer K. Forsyth
Wanda Fremont
Naomi J. Goodrich‐Hunsaker
Maria Gudbrandsen
Raquel E. Gur
Maria Jalbrzikowski
Wendy R. Kates
Amy Lin
David E. J. Linden
Kathryn L. McCabe
Donna McDonald‐McGinn
Hayley Moss
Declan G. Murphy
Kieran C. Murphy
Michael J. Owen
Julio E. Villalon‐Reina
David R. Roalf
Kosha Ruparel
J. Eric Schmitt
Sanne Schuite‐Koops
Kathleen Angkustsiri
Daqiang Sun
Ariana Vajdi
Marianne van den Bree
Jacob Vorstman
Paul M. Thompson
Fidel Vila‐Rodriguez
Carrie E. Bearden
Type
journal-article
URL Institutional Repository
Abstract
<jats:title>Abstract</jats:title><jats:p>22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1‐weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source‐based morphometry (SBM) pipeline (SS‐Detect) to generate structural brain patterns (SBPs) that capture co‐varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV‐SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel‐based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.</jats:p>
Cite this document
Ge, R., Ching, C. R. K., Bassett, A. S., Kushan, L., Antshel, K. M., Van Amelsvoort, T., Bakker, G., Butcher, N. J., Campbell, L. E., Chow, E. W. C., Craig, M., Crossley, N. A., Cunningham, A., Daly, E., Doherty, J. L., Durdle, C. A., Emanuel, B. S., Fiksinski, A., Forsyth, J. K., … Bearden, C. E. (2024). Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Human Brain Mapping, 45(1), e26553. https://doi.org/10.1002/hbm.26553
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