Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.

Identification of biological risk factors that contribute to the development of complex neuropsychiatric disorders such as psychosis and autism spectrum disorder (ASD) is key for early intervention and detection. Furthermore, parsing the biological heterogeneity associated with these neuropsychiatric syndromes will help us understand the neural mechanisms underlying psychiatric symptom development. The 22q11.2 microdeletion syndrome (22q11DS) is caused by a recurrent genetic mutation that carries significantly increased risk for developing psychosis and/or ASD. In this review, I provide an brief introduction to 22q11DS and discuss common phenotyping strategies that are used to assess psychosis and ASD in this population. I then summarize neuroimaging phenotypes associated with psychosis and ASD in 22q11.DS. Next, I discuss challenges within the field and provide practical suggestions to overcome these obstacles. Finally, I discuss future directions for moving 22q11DS risk and resilience research forward.