Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental disorder that represents one of the greatest known risk factors for psychosis. Previous studies in psychotic subjects without the deletion have identified a dopaminergic dysfunction in striatal regions, and dysconnectivity of striatocortical systems, as an important mechanism in the emergence of psychosis. Here, we used resting-state functional MRI to examine striatocortical functional connectivity in 22q11.2DS patients. We used a 2 × 2 factorial design including 125 subjects (55 healthy controls, 28 22q11.2DS patients without a history of psychosis, 10 22q11.2DS patients with a history of psychosis, and 32 subjects with a history of psychosis without the deletion), allowing us to identify network effects related to the deletion and to the presence of psychosis. In line with previous results from psychotic patients without 22q11.2DS, we found that there was a dorsal to ventral gradient of hypo- to hyperstriatocortical connectivity related to psychosis across both patient groups. The 22q11.2DS was additionally associated with abnormal functional connectivity in ventral striatocortical networks, with no significant differences identified in the dorsal system. Abnormalities in the ventral striatocortical system observed in these individuals with high genetic risk to psychosis may thus reflect a marker of illness risk.

Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective cohort study

“…The associations of TS with schizophrenia, and schizophrenic psychoses has been described in several case reports (2,12,14), and mosaic karyotype 45,X/46,XX was clearly overrepresented. (7,(59)(60).…”

“…Although TS is not associated with any psychiatric syndrome, the different features speci c to TS also seem to place individuals at biologically greater risk for depression than individuals unaffected by TS (1,(9)(10)(11). In addition, several case reports have described associations of TS with schizophrenia, and schizophrenic psychoses (2,(12)(13)(14).…”

Psychiatric Comorbidities in Children with Primary Immunodeficiency: A Randomized-Controlled Study

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