Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

Biol Psychiatry. 2015 Jul 15;78(2):135-43. doi: 10.1016/j.biopsych.2014.10.025. Epub 2014 Nov 21.


Background: There is increased risk of developing psychosis in 22q11.2 deletion syndrome (22q11DS). Although this condition is associated with morphologic brain abnormalities, simultaneous examination of multiple high-resolution measures of cortical structure has not been performed.

Methods: Fifty-three patients with 22q11DS, 30 with psychotic symptoms, were compared with demographically matched nondeleted youths: 53 typically developing and 53 with psychotic symptoms. High-resolution magnetic resonance imaging measures of cerebral volume, cortical thickness, surface area, and an index of local gyrification were obtained and compared between groups.

Results: Patients with 22q11DS demonstrated global increases in cortical thickness associated with reductions in surface area, reduced index of local gyrification, and lower cerebral volumes relative to typically developing controls. Findings were principally in the frontal lobe, superior parietal lobes, and in the paramedian cerebral cortex. Focally decreased thickness was seen in the superior temporal gyrus and posterior cingulate cortex in 22q11DS relative to nondeleted groups. Patterns between nondeleted participants with psychotic symptoms and 22q11DS were similar but with important differences in several regions implicated in schizophrenia. Post hoc analysis suggested that like the 22q11DS group, cortical thickness in nondeleted individuals with psychotic symptoms differed from typically developing controls in the superior frontal gyrus and superior temporal gyrus, regions previously linked to schizophrenia.

Conclusions: Simultaneous examination of multiple measures of cerebral architecture demonstrates that differences in 22q11DS localize to regions of the frontal, superior parietal, superior temporal, and paramidline cerebral cortex. The overlapping patterns between nondeleted participants with psychotic symptoms and 22q11DS suggest partially shared neuroanatomic substrates.

Keywords: 22q11 Deletion syndrome; Cortical thickness; Genetics; Gyrification index; MRI; Psychosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 22q11 Deletion Syndrome / complications
  • 22q11 Deletion Syndrome / pathology*
  • Adolescent
  • Adult
  • Cerebral Cortex / pathology*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mental Disorders / complications
  • Mental Disorders / pathology
  • Young Adult