Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

Area of Science:

• Neuroimaging
• Developmental neuroscience
• Psychiatry

Background:

• 22q11.2 deletion syndrome (22q11DS) is linked to an elevated risk of psychosis.
• Previous studies noted brain abnormalities in 22q11DS, but comprehensive high-resolution cortical structure analysis was lacking.

Purpose of the Study:

• To simultaneously examine multiple high-resolution measures of cortical structure in individuals with 22q11DS.
• To compare brain structure between 22q11DS patients, non-deleted individuals with psychosis, and typically developing controls.

Main Methods:

• High-resolution magnetic resonance imaging (MRI) was used to assess cerebral volume, cortical thickness, surface area, and local gyrification.
• Fifty-three patients with 22q11DS and 53 typically developing controls were compared with demographically matched non-deleted youths.

Main Results:

• 22q11DS patients exhibited global increases in cortical thickness, reduced surface area, lower gyrification, and decreased cerebral volumes compared to controls.
• Structural differences were prominent in the frontal lobe, superior parietal lobes, and paramedian cerebral cortex.
• Overlapping patterns of cortical differences were observed between 22q11DS and non-deleted individuals with psychosis, particularly in regions implicated in schizophrenia.

Conclusions:

• Multi-measure brain architecture analysis reveals specific cortical differences in 22q11DS patients.
• Findings localize to frontal, superior parietal, superior temporal, and paramidline cerebral cortex.
• Shared neuroanatomic substrates may underlie psychosis risk in both 22q11DS and non-deleted individuals with psychotic symptoms.