Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

What is it about?

22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Brain alterations in 22q11DS are not well understood, due to historically small sample sizes. The extent to which subcortical alterations in 22q11DS-related psychosis overlap with idiopathic schizophrenia is also not well understood. Here, in the largest neuroimaging study of 22q11DS ever conducted, we mapped alterations in subcortical shape, and the effects of deletion size and psychotic disorder, in 22q11DS. 22q11DS-related psychosis showed significant overlap with other large-scale studies of schizophrenia and other severe neuropsychiatric illnesses (bipolar disorder, major depression and obsessive-compulsive disorder), providing evidence that this genetic disorder may serve as an important model for studying the development of complex neuropsychiatric disorders.

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