Systematic review and multi-modal meta-analysis of magnetic resonance imaging findings in 22q11.2 deletion syndrome: Is more evidence needed?

Neurosci Biobehav Rev. 2019 Dec:107:143-153. doi: 10.1016/j.neubiorev.2019.09.004. Epub 2019 Sep 4.


22q11.2 deletion syndrome (DS) is considered to be the most robust genetic model of psychosis. In the last decade, there has been increased interest in the brain abnormalities associated with these genetic changes. Most imaging findings in this population come from small samples. This increases the risk of reporting spurious effects that reflect the idiosyncrasies of each study. Thus, the current work is aimed at identifying whether there are spatially consistent structural and functional brain abnormalities in individuals with 22q11.2 DS through (i) a comprehensive label-based systematic review and (ii) a coordinate-based meta-analysis of magnetic resonance imaging studies. The systematic review identified the frontal middle gyri, posterior cingulum, right cuneus and bilateral precuneus as the most affected regions. The meta-analysis revealed consistent abnormalities in the bilateral inferior parietal lobe, right precuneus, right superior temporal gyrus and posterior cingulate cortex. This study provides an important starting point for future research as it sheds light on possible genetically determined psychosis susceptibility regions.

Keywords: 22q11.2 deletion syndrome; DTI; Genetic model; Meta-analysis; Structural MRI; Systematic review; fMRI.

Publication types

  • Meta-Analysis
  • Systematic Review

MeSH terms

  • Brain / diagnostic imaging*
  • Brain Mapping
  • DiGeorge Syndrome / diagnostic imaging*
  • Humans
  • Magnetic Resonance Imaging
  • Nerve Net / diagnostic imaging*