Annotation: Velo-cardio-facial syndrome
Article first published online: 31 JAN 2005
Journal of Child Psychology and Psychiatry
Volume 46, Issue 6, pages 563–571, June 2005
How to Cite
Murphy, K.C. (2005), Annotation: Velo-cardio-facial syndrome. Journal of Child Psychology and Psychiatry, 46: 563–571. doi: 10.1111/j.1469-7610.2005.00408.x
- Issue published online: 18 FEB 2005
- Article first published online: 31 JAN 2005
- Manuscript accepted 12 August 2004
- Velo-cardio-facial syndrome;
- 22q11 deletion syndrome;
Background: Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. Individuals with VCFS are reported to have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and linguistic disorders.
Methods: A selective literature review was undertaken.
Results: Children and adults with VCFS have high rates of behavioural, psychiatric and communication disorders. While VCFS children have high rates of ADHD, anxiety and affective disorders, adults have high rates of psychotic disorders, particularly schizophrenia. In addition, the presence of a chromosome 22q11 deletion is associated with specific neuropsychological and neuroanatomical abnormalities.
Conclusions: People with VCFS have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and communication disorders. Early diagnosis and treatment within a multidisciplinary framework is of paramount importance for VCFS individuals as this will have a major effect in determining the long-term outcome in affected individuals. Longitudinal studies of VCFS children are currently under way to identify precursor symptoms and areas of dysfunction which precede the later development of major psychiatric disorder. Identification of such prodromal features in VCFS may have enormous implications for the clinical management of major psychiatric disorder in VCFS and in the wider population.