The Link Between VCFS and Learning Disabilities, Mental Illness, and More

Related: VCFS, Treatment

by Dr. Robert Shprintzen
Friday, April 03, 2009

When I published the first paper that described velo-cardio-facial syndrome (VCFS) in 1978 (what some people refer to as "discovering" the syndrome), the presence of learning disabilities in all of the 12 patients I reported was noted, and in a series of studies that followed over the next decade, my research team documented the type of learning and cognitive issues common in the syndrome. Then in 1992, I published the first report documenting the frequent occurrence of psychiatric problems, particularly psychosis, in people with VCFS. Although the majority of people with VCFS do not have psychosis, the risk for developing it is 25 times higher in VCFS than in the general population. This makes VCFS the most significant genetic risk factor yet identified for the development of mental illness. Because both learning and mental function reside in the brain, our research group at the VCFS International Center at the State University of New York Upstate Medical University in Syracuse has been studying the relationship between the two and relating our findings to information we are extracting from the human genome. Because people with VCFS have a known deletion of DNA from one copy of chromosome 22 that contains 40 genes, we can narrow our search for causes to a very tight focus. Among the genes deleted in people with VCFS are several that have direct impact on the formation of the brain and the biochemistry of the brain. Our talented psychiatric and neuro-imaging research team headed by Dr. Wendy Kates (Department of Psychiatry and Behavioral Sciences) and our molecular genetics program headed by Dr. Frank Middleton (Department of Neuroscience and Physiology) have been exploring these relationships tirelessly for many years now, and the data we are developing is bringing us to the point of developing treatment strategies for learning problems and psychiatric disorders.

Although VCFS is common among genetic disorders, it is still considered to be a rare disease because it is found in less than one in every 1500 people. However, because the nature of the genome that causes VCFS is known to us, and because there is a great deal of consistency in the learning and behavioral profiles in VCFS, it is very likely if not certain that VCFS serves as a human model for the development of these problems. Unlocking the mystery of learning problems and psychosis in VCFS may be the keys to discovering the mechanisms for these disorders in at least some of the general population. Because VCFS gives us the opportunity to study these issues in a population that is genetically alike, focusing on people with VCFS to find answers for everyone else is a scientific opportunity that must be the center of that focus in order to provide hope to people with learning and behavioral problems.

I have known Quinn Bradlee since he was fourteen years of age when I first saw him and his diagnosis was established. I have watched him grow into a young man of exceptional character, and his coming forward to speak of his problems and to share his experience with the world is laudable and invaluable to both scientists and those who have the same problems. Our research team is dedicating our work to coming up with the answers that Quinn and his family craved when he was younger, but did not have available. Sitting on the edge of treatment trials in many areas brings us that much closer to our goals. The quickest way for us to reach these answers is through the generosity of people willing to donate to our research activities allowing us to continue our march forward without pause. For my part, I will be available to respond to questions and comments on this web site, and it is my hope that Quinn and I can team up to reach the goal we are both seeking.