When parents of children with MSUD notice puzzling, abnormal behavior, it raises many questions. Is the behavior related to their metabolic condition? Do other parents notice the same behaviors? Do all children with MSUD manifest the same behavioral patterns or do the genetic mutation, the amount of damage before diagnosis, degree of metabolic control, protein deficiencies or other factors make a difference?
Hopefully, a proposed behavioral study will provide some insight on MSUD behavioral issues. Dr. Dean Danner from Emory University in Atlanta, Georgia and Wendy Packman, J.D., Ph.D. from San Francisco, California plan to do the study with the cooperation of the MSUD Family Support Group. The Support Group has given some initial financial support to begin the study. The doctors will soon send questionnaires to validate the results of an earlier study begun in 1996. No one is obligated to participate, but a quick and thorough response would be very helpful. Dr. Danner will report on the progress of the study at Symposium 2002 in July.
The study will use standardized child assessment evaluation forms filled out by parents and/or the affected individuals along with a companion form filled out by the child's teacher to evaluate behavior patterns. The completed forms will be scored and evaluated independently by a Certified School Psychologist and a Clinical Psychologist.
The results of this study will provide the first evaluation of behavior patterns in these individuals. Their molecular genetic abnormality has already been defined by completed laboratory studies and the results of the behavior study will be aligned with their specific gene defect. The benefit will be felt most readily by new individuals identified with this genetic disorder. In addition, caregivers will be able to anticipate and therefore better manage the psychological needs of these individuals.