17.1 Psychosis Neurophenotype in 22q11.2 Deletion: Mechanisms Driving Risk and Resilience

22q11.2 deletion syndrome (22qDS) is associated with increased psychosis risk and a similar presentation to idiopathic psychosis. There is marked heterogeneity in the course of affected individuals, and prospective longitudinal studies are limited. The collaborative brain-behavior studies of Children's Hospital of Philadelphia (CHOP)-University of Pennsylvania (Penn) in 22qDS aim to: 1) parse the heterogeneity among individuals with prominent psychosis spectrum symptoms (PS+) compared to those without such symptoms (PS-), in relation to neurobehavioral functions; and 2) elucidate potential mechanisms by probing mitochondria genes in the deleted region in induced pluripotent stem cell (iPSC)-derived neurons from 22qDS carriers and schizophrenia, compared to healthy controls, as well as lymphoblastic cells lines (LCLs) in 22qDS with and without schizophrenia.
Source: Journal of the American Academy of Child and Adolescent Psychiatry - Category: Psychiatry Authors: Source Type: research