Velocardiofacial syndrome: is there a neuropsychiatric phenotype?

A neuropsychiatric phenotype specific to the velocardiofacial syndrome (VCFS) has not yet been identified. Neuropsychological research suggests that children with VCFS have problems in the domains of cognition, attention, and social interaction. Preliminary psychiatric studies of children and adolescents with VCFS suggest that they may be at higher risk than their nonaffected peers to develop mood disorders (including bipolar disorder), anxiety disorders, and attention deficit disorders. An unresolved question remains whether adults are at higher risk to develop psychotic mood disorders or schizophrenia in early adulthood. A research paradigm developed by Robins and Guze for the validation of psychiatric disorders may be helpful. Systematic studies in the areas of phenomenology, neurobiology, heredity, and the natural course of VCFS may clarify its psychiatric manifestations. Better understanding of the neuropsychiatric phenotype associated with VCFS will better inform ongoing genetic research. The study of VCFS holds the potential to give important insight into the pathogenesis of psychiatric disorders.