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Perspectives on Neuroscience and Behavior

The velo-cardio-facial syndrome (VCFS), which occurs in 1 of 4,000 births, is characterized by varying degrees of dis tinctive facial physical features, congenital heart disease, and learning disabilities. More than 80% of these patients have small hemizygous interstitial deletions of chromosome 22q11. In an early sample of 14 VCFS patients who were all over 17 years of age, 11 (79%) had a psychiatric diagnosis, including 4 (29%) with schizophrenia. In a younger sample of 25 VCFS patients (20 of the 25 were 20 years of age or younger), 16 (64%) met criteria for a spectrum of bipolar disorders and none met criteria for schizophrenia (1). Now in a study of 50 adult cases (48 had identified deletions, mean age 31 with 18% 17-20 years of age), 21 (42%) had a history of major psychiatric disorder, and of these 15 (30%) had a history of psychosis, with 12 (24%) of the 15 meeting criteria for schizophrenia. Six (12%) patients had major de pression without psychosis, and only 2 (4%) patients had bi polar disorder (2). In addition to physical abnormalities, these studies indicate that the chromosome 22q11 deletion syndrome clearly leads to a high incidence of psychiatric disability, but there is variability in the psychiatric diagnosis. This would be expected if (as many believe) psychiatric diagnosis is inherently unstable and unreliable since the criteria primarily rely on clusters of superficial behavioral symptoms. The data do, however, suggest that younger patients with VCFS manifest more of a bipolar-type illness in contrast to the psychotic schizophrenia-type symptoms of ol er patients. It is of interest that the allelic distributions of catechol-o-methyltransferase (COMT), an enzyme involved in the degradation of dopamine, which is in the area deleted of chromosome 22q11, are not abnormal in VCFS patients with schizophrenia (2) as well as schizophrenia patients without VCFS (3). The pathologic mechanism producing both the physical and behavioral abnormalities in VCFS re mains to be elucidated. These studies do, however, make it clear that the relationship between the genetic abnormality and the clinical phenotype at the behavioral and psychiatric di gnostic level can be extremely variable.