Concealment, depression and poor quality of life in patients with congenital facial anomalies.

OBJECTIVES: Studies have shown that patients with congenital facial anomalies are vulnerable to depression. In addition, concealment of facial anomalies in an effort to mask handicaps is common, and these patients also often have difficulties with interpersonal relationships and in social situations. Despite this, no previous study has investigated the association between concealment of facial anomalies and depression, and a patient's quality of life. METHODS: A group of 65 patients, who had been scheduled for plastic surgery, completed this study. A total of 50 patients who had congenital facial anomalies, some of whom concealed their facial anomalies (N=22), and some whom didn't (N=28), as well as 15 patient controls were interviewed and subsequently administered the Beck Depression Inventory-II (BDI-II), the Structured Clinical Interview for DSM-IV (SCID), the Millon Behavioral Medicine Diagnostic (MBMD) and the WHO Quality of Life (WHOQOL). RESULTS: Among patients with congenital facial anomalies, those who concealed their anomalies exhibited a significantly higher level of depression and anxiety; higher rates of self-accusation, dissatisfaction, hypochondria, weight loss and antisocial personality traits; and a lower quality of life than those who did not conceal their anomalies. To the contrary, no significant differences were found with respect to depression, anxiety and quality of life between the congenital facial anomaly group and controls. Further, the concealment of facial anomalies was a significant predictor for lifetime major depressive disorder (odds ratio (OR)=7.1, 95% confidence interval (CI) 1.4-37.3), after adjusting for age, gender and microtia. CONCLUSION: Facial concealment is a significant predictor of depression and poor quality of life in patients with congenital facial anomalies.

No association found between 158 Val/Met polymorphism of the COMT gene and schizophrenia with minor physical anomalies.

The catechol-O-methyl transferase (COMT) gene has been a promising candidate in genetic research on schizophrenia because of its function in dopamine metabolism and its location on chromosome 22q11.2, which may be implicated in both schizophrenia and velocardiofacial syndrome (VCFS). To explore the possible genetic contribution of COMT to the development of schizophrenia, we focused on the subgroup of patients with schizophrenia characterized by minor physical anomalies as a phenotype and the 158 Val/Met polymorphism as a genotype. Since some physical anomalies are found in both schizophrenia and VCFS, schizophrenia patients with minor physical anomalies could represent the putative subgroup of schizophrenia linked to a disruption in neurodevelopment. Genotyping for the 158 Val/Met (472 G>A) polymorphism in the COMT gene was done for 239 patients with schizophrenia and 248 normal controls. Our analysis did not yield any significant between-group differences in terms of either allele or genotype frequency. We also could not find any association between the COMT gene and the schizophrenia subgroup with minor physical anomalies, although there was a significant difference in Waldrop total scores between the patients with schizophrenia and the normal controls. Analyses of subgroups based on other clinical variables also did not reveal significant differences. Overall, this study does not support the hypothesis that the 158 Val/Met polymorphism in the COMT gene is associated with schizophrenia in Koreans.