Abstract

The typically deleted region in 22q11.2 deletion syndrome (22q11DS) typically includes the catechol-O-methyltransferase (COMT) and proline dehydrogenase (PRODH) gene which are involved in dopaminergic and glutamatergic neurotransmission respectively. Alterations in dopaminergic and glutamatergic neurotransmission have been implicated in psychosis (1) and cognitive functioning which could explain the increased prevalence of psychotic disorders and cognitive impairments in 22q11.2DS. Here we examined the association between frontal and striatal dopamine and glutamate and cognitive functioning in 22q11.2DS.

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