Abnormalities in brain white matter in adolescents with 22q11.2 deletion syndrome and psychotic symptoms

Zora Kikinis, Kang Ik K. Cho, Ioana L. Coman, Petya D. Radoeva, Sylvain Bouix, Yingying Tang, Ryan Eckbo, Nikos Makris, Jun Soo Kwon, Marek Kubicki, Kevin M. Antshel, Wanda Fremont, Martha E. Shenton, Wendy R. Kates

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Background: 22q11.2 Deletion Syndrome (22q11DS) is considered to be a promising cohort to explore biomarkers of schizophrenia risk based on a 30 % probability of developing schizophrenia in adulthood. In this study, we investigated abnormalities in the microstructure of white matter in adolescents with 22q11DS and their specificity to prodromal symptoms of schizophrenia. Methods: Diffusion Magnetic Resonance Imaging (dMRI) data were acquired from 50 subjects with 22q11DS (9 with and 41 without prodromal psychotic symptoms), and 47 matched healthy controls (mean age 18 +/−2 years). DMRI measures, including fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were calculated and compared between groups using the Tract Based Spatial Statistics (TBSS) method. Additionally, correlations between dMRI measures and scores on positive symptoms were performed. Results: Reductions in MD, AD and RD (but not FA) were found in the corpus callosum (CC), left and right superior longitudinal fasciculus (SLF), and left and right corona radiata in the entire 22q11DS group. In addition, the 22q11DS subgroup with prodromal symptoms showed reductions in AD and MD, but no changes in RD when compared to the non-prodromal subgroup, in CC, right SLF, right corona radiata and right internal capsule. Finally, AD values in these tracts correlated with the scores on the psychosis subscale. Conclusion: Microstructural abnormalities in brain white matter are present in adolescent subjects with prodromal psychotic symptoms.

Original languageEnglish (US)
Pages (from-to)1353-1364
Number of pages12
JournalBrain Imaging and Behavior
Issue number5
StatePublished - Oct 1 2017


  • 22q11.2 deletion syndrome (22q11DS)
  • Brain white matter
  • Diffusion tensor magnetic resonance imaging (dMRI)
  • Tract-based spatial statistics (TBSS)
  • Velo-cardio-facial syndrome (VCFS)

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Neurology
  • Cognitive Neuroscience
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Psychiatry and Mental health
  • Behavioral Neuroscience


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