Does a Diagnosis of Velocardiofacial Syndrome Mean Schizophrenia?

Abstract

This is the case of a 16-year-old female with no previous history of psychosis who was referred for concerns about new onset of psychotic symptoms. She had reported that she saw “dead people” at the back of family vehicles for several months prior to evaluation. This symptom was reported to her psychologist who had been seeing her since fourth grade to assist with management of anxiety and mood issues and to teach coping skills. This psychiatric change prompted significant concern that she was developing a psychotic disorder which was heightened by the presence of comorbid 22q11.2 deletion syndrome (22q11DS), a condition with over a 25% risk for the development of schizophrenia. 22q11.2 deletion syndrome, also known as velocardiofacial syndrome, is a multisystemic genetic disorder that carries a very high risk for schizophrenia. This case highlights the importance of early assessment and management of individuals with this disorder. This case also demonstrates the potential opportunities that exist to improve care by taking into account features of the syndrome as well as the psychiatric issues in assessment and management.