The disorder is one of the most common chromosomal deletions among children. It causes mental retardation or developmental delay. Myelin is laid down on the brain's circuitry starting at birth through a person's 20s, promoting brain maturation.
Normal subjects have two copies.
The discovery came in the laboratory of Robin J. Leach, PhD, assistant professor of cellular and structural biology, and involved Barbara R. Dupont, PhD, an assistant instructor, and doctoral student Jannine D. Cody, whose daughter has the syndrome. Tests of growth hormone therapy as a potential treatment now are under way. The project is for the Department of Veterans Affairs. Related studies of the disorder have identified bodily responses to the accompanying anxiety, such as elevated heart rates, but brain function has not been examined, said Stephen K. Brannan, MD, who heads the project. Dr. Brannan, an assistant professor of psychiatry, also is a psychiatrist at Audie L. Murphy Memorial Veterans Hospital in San Antonio.