Mapping cortical morphology in youth with velocardiofacial (22q11.2 deletion) syndrome

Velocardiofacial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to 30% of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia.

Using a longitudinal, case-control design, anatomic magnetic resonance images were acquired to investigate cross-sectional and longitudinal alterations in surface cortical morphology in a cohort of adolescents with VCFS and age-matched typical controls. All participants were scanned at two time points.

Compared with controls, youth with VCFS exhibited alterations in inferior frontal, dorsal frontal, occipital, and cerebellar brain regions at both time points. Little change was observed over time in surface morphology of either study group. However, within the VCFS group only, worsening psychosocial functioning over time was associated with time 2 surface contractions in left middle and inferior temporal gyri. Further, prodromal symptoms at time 2 were associated with surface contractions in the left and right orbitofrontal, temporal, and cerebellar regions and surface protrusions of the supramarginal gyrus.

These findings advance the understanding of cortical disturbances in VCFS that produce vulnerability for psychosis in this high-risk population.