Structural abnormalities in cortical volume, thickness, and surface area in 22q11.2 microdeletion syndrome: Relationship with psychotic symptoms.

[22q11.2 deletion syndrome]

22 q 11 .2 deletion syndrome (22 q 11 DS ) represents one of the largest known genetic risk factors for psychosis , yet the neurobiological mechanisms underlying symptom development are not well understood . Here we conducted a cross-sectional study of 22 q 11 DS to decompose cortical volume into its constituent parts , cortical thickness (CT ) and surface area (SA ), which are believed to have distinct neurodevelopmental origins .High -resolution T 1 -weighted scans were collected on 65 participants (31 22 q 11 DS , 34 demographically comparable typically developing controls , 10 -25 Â years old ). Measures of cortical volume , CT , and SA were extracted from regions of interest using the FreeSurfer image analysis suite . Group differences and age-related trajectories in these structures , as well as their association with psychotic symptomatology , were assessed .Relative to controls , 22 q 11 DS participants showed bilateral volumetric reductions in the inferior temporal cortex , fusiform gyrus , anterior cingulate , superior parietal cortex , and cuneus , which were driven by decreased SA in these regions . 22 q 11 DS participants also had increased volumes , driven by increased CT , in bilateral insula regions . 22 q 11 DS youth had increased CT in frontal regions , particularly middle frontal and medial orbitofrontal cortices . A pattern of age-associated cortical thinning was observed in typically developing controls in brain regions associated with visual and sensory information-processing (i .e ., left pericalcarine cortex and fusiform gyrus , right lingual and postcentral cortices ). However , this relationship was disrupted in 22 q 11 DS participants . Finally , correlational analyses revealed that increased CT in right medial orbitofrontal cortex was associated with increased positive symptom severity in 22 q 11 DS .Differential disruptions of CT and SA in distinct cortical regions in 22 q 11 DS may indicate abnormalities in distinct developmental neural processes . Further , neuroanatomic abnormalities in medial frontal brain structures disproportionately affected in idiopathic schizophrenia were associated with psychotic symptom severity in 22 q 11 DS youth , suggesting that disrupted biological processes in these cortical regions may underlie development of psychotic symptoms , both in 22 q 11 DS and in the broader population .

Diseases
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Diseases presenting "distinct cortical regions" symptom

22q11.2 deletion syndrome

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