LAUSR

Abstract The 22q11 deletion syndrome (22q11DS) is a neurodevelopmental condition associated with medical diseases, cognitive deficits and psychiatric morbidity. The common 3Mb 22q11 deletion contains ~40 genes. The 22q11DS has multiple potential medical manifestations including cardiovascular and cleft anomalies, hypocalcemia and thymic hypoplasia resulting in an increased risk for recurrent infections and autoimmune disorders. The most common and debilitating manifestations in 22q11DS are the cognitive deficits and psychiatric morbidity. The average IQ in 22q11DS is 75, within the borderline range. Psychiatric rate of psychiatric comorbidities in 22q11DS is ~70% with up to one-third of individuals fulfilling criteria for schizophrenia by adulthood. We will present data from our group exploring the potential association between 22q11DS-psychosis and its related cognitive and neurophysiological deficits and variants of the COMT and PRODH, two genes from the 22q11-deleted region. These findings will be discussed in the context of the data reported from other laboratories on the genotype-schizophrenia phenotype in 22q11DS. We will also report preliminary findings on the potential role of neuroinflammatory factors in 22q11DS psychosis. We found elevated levels of the neuroinflammatory factors CRP and IL-6 in 22q11DS psychotic patients. Taken together with recent promising genetic-immunological pathways from schizophrenia in the general population, our findings suggest that 22q11DS is a promising model to test the genetic-immunological pathways leading to schizophrenia.