The Neuropsychiatry of 22q11.2 Deletion Syndrome: An Electronic Health Records Study.

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder. This study analyzed electronic health records of 10,831 patients with 22q11.2DS and compared them with a control group. Neurodevelopmental disorders were significantly overrepresented, including intellectual disability (33.2-fold higher), autism (5.4-fold), and developmental language disorder (6.1-fold). In adults, schizophrenia (21.3-fold), epilepsy (10.9-fold), and personality disorders (3.8-fold) showed strong associations. Catatonia and dissociative disorders were also significantly more common. Among 13 patients with Parkinson's disease, 10 were diagnosed before age 50. The study confirmed a substantial neuropsychiatric burden associated with this syndrome.