Machine-learning classification of 22q11.2 deletion syndrome: A diffusion tensor imaging study

Daniel S. Tylee, Zora Kikinis, Thomas P. Quinn, Kevin M. Antshel, Wanda Fremont, Muhammad A. Tahir, Anni Zhu, Xue Gong, Stephen J. Glatt, Ioana L. Coman, Martha E. Shenton, Wendy R. Kates, Nikos Makris

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental syndrome that has been studied intensively in order to understand relationships between the genetic microdeletion, brain development, cognitive function, and the emergence of psychiatric symptoms. White matter microstructural abnormalities identified using diffusion tensor imaging methods have been reported to affect a variety of neuroanatomical tracts in 22q11.2DS. In the present study, we sought to combine two discovery-based approaches: (1) white matter query language was used to parcellate the brain's white matter into tracts connecting pairs of 34, bilateral cortical regions and (2) the diffusion imaging characteristics of the resulting tracts were analyzed using a machine-learning method called support vector machine in order to optimize the selection of a set of imaging features that maximally discriminated 22q11.2DS and comparison subjects. With this unique approach, we both confirmed previously-recognized 22q11.2DS-related abnormalities in the inferior longitudinal fasciculus (ILF), and identified, for the first time, 22q11.2DS-related anomalies in the middle longitudinal fascicle and the extreme capsule, which may have been overlooked in previous, hypothesis-guided studies. We further observed that, in participants with 22q11.2DS, ILF metrics were significantly associated with positive prodromal symptoms of psychosis.

Original languageEnglish (US)
Pages (from-to)832-842
Number of pages11
JournalNeuroImage: Clinical
StatePublished - 2017


  • 22q11.2 deletion syndrome
  • Callosal asymmetry
  • Diffusion tensor imaging
  • Extreme capsule
  • Inferior longitudinal fasciculus
  • Machine-learning
  • Middle longitudinal fascicle
  • Support vector machine
  • Velocardiofacial syndrome
  • White matter query language

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Neurology
  • Clinical Neurology
  • Cognitive Neuroscience


Dive into the research topics of 'Machine-learning classification of 22q11.2 deletion syndrome: A diffusion tensor imaging study'. Together they form a unique fingerprint.

Cite this