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
Validation

Diseases presenting "schizophrenia" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

cadasil

child syndrome

congenital toxoplasmosis

kabuki syndrome

kallmann syndrome

krabbe disease

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

zellweger syndrome

This symptom has already been validated