We are studying a relatively rare disorder with a known genetic etiology, termed 22q11.2 deletion syndrome (22q11.2DS; also named DiGeorge syndrome or velo-cardio-facial syndrome). The phenotypic expression of 22q11.2DS is highly variable and ranges from severe life-threatening to less severe conditions. Its clinical presentation might include multi-organ dysfunction such as cardiac and palatal abnormalities, and variable developmental delays, cognitive deficits, and neuropsychiatric conditions.

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With this project we aim to characterize the different cognitive and neuropsychiatric profiles in 22q11.2DS, and to understand their relation to neural function. To do that, we use high-density electrophysiology and a battery of cognitive and psychiatric tests. We are particularly interested in the high incidences of intellectual disability and schizophrenia in this population.

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A brochure for the study can be found here: 

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For more information, contact Ana Francisco at ana.alvesfrancisco@einsteinmed.edu and check our facebook page!