22q11.2 deletion syndrome (22q11DS) stands as the most prevalent microdeletion in humans. This genetic condition is linked to notable effects on brain structure, marked by substantial reductions in gray matter volume. Additionally, it manifests in neuropsychiatric symptoms, encompassing cognitive impairment and psychosis. The ENIGMA 22q11.2 Deletion Syndrome Working Group has recently shared a publication entitled "Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome".
In this study, the ENIGMA team explored the influence of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on structural brain patterns in a cohort of 470 individuals with 22q11DS and 313 typically developing controls. Their findings unveiled 17 distinct structural brain patterns. 22q11DS was linked to specific structural abnormalities captured by topographical gray matter volume covariance patterns, including involvement of the cerebellum. Larger deletion size was associated with significantly lower gray matter volume in frontal and occipital structural brain patterns; ; however, a history of psychosis did not exhibit a strong association with these structural covariance patterns.
These findings indicate that the gray matter volume abnormalities observed in 22q11.2 deletion syndrome involve distinct anatomical patterns rather than just being attributed to a diffuse global process.
This work has been published in Human Brain Mapping. Readers can access the full article at: https://onlinelibrary.wiley.com/doi/10.1002/hbm.26553.
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