Neurobiology of Disease in Children: Tourette Syndrome

Abstract

Scientific advances have improved our understanding of the pathogenesis of many disorders characterized by neurologic dysfunction, and, as a result, new diagnostic tools and therapies have been developed and refined. Needless to say, the rapid pace of discovery in basic and clinical neurosciences continues unabated, and the challenge for practitioners is to determine what molecular diagnostic strategies, sophisticated neuroimaging tools, or innovative therapies should be adopted to manage not only common disorders but also the large number of conditions affecting the developing nervous system. In 2001, the National Institutes of Health (NIH) funded a 5year conference grant (1 R13 NS40925-01) titled ‘‘Neurobiology of Disease in Children.’’ The grant was successfully renewed for 2006–2010. The overall goal is to bring together clinicians, scientists, caregivers, and National Institutes of Health program officers to determine how research findings may be translated to enhance clinical understanding and affect clinical practice. Tourette syndrome was selected as the topic for the 2005 symposium (neurofibromatosis, leukodystrophy, tuberous sclerosis complex, and Rett syndrome were the topics of the first four conferences). The conference format included formal presentations, question and answer sessions, panel discussions, and open discussions to directly address conference objectives. The symposia directors were Drs Harvey Singer and Wayne Goodman, who are highly respected leaders in the field of Tourette syndrome studies. The panel included speakers and moderators, each an expert in the field, selected by the directors to ensure authoritative presentations on key topics and productive discussions on research directions. The question and answer sessions after each set of talks encouraged brainstorming between the panelists and audience of child neurologists about the best directions of future research and how clinicians can contribute. The first session, ‘‘Clinical Issues and Natural History,’’ reviewed phenomenology, epidemiology, and comorbidity in Tourette syndrome. Dr Leckman discussed the fractal character of motor and vocal tics and the need for prospective longitudinal studies to clarify the timing of tics and the role of intramorbid factors, comorbid factors, and possible precipitants. The second session, ‘‘Clinical and Basic Neurobiology,’’ described genetic issues and neuroimaging features, in addition to the latest information on neuroanatomy, neurochemistry, and neuroimmunology. Dr Singer discussed neurochemical hypotheses and changes in the prefrontal cortex, in addition to reviewing the current controversy surrounding pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS). In the third session, ‘‘Clinical Progress and Challenges,’’ speakers discussed the treatment of tics and associated problems, including attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder. Dr Denckla discussed the fact that children with Tourette syndrome but without ADHD (‘‘pure Tourette syndrome’’) might have faster neuromotor skills and a slightly higher IQ than expected. We also heard from Drs Lozano and Goodman about emerging brain stimulation technologies that might apply to intractable tic disorders. The fourth and final session, ‘‘Future Directions,’’ opened with an executive summary of findings presented during the day so that panelists could comment on opportunities and challenges. A set of specific recommendations for future research directions was developed and is included in the article by Olson et al. Dr Story Landis, director of the National Institute of Neurologic Disorders and Stroke, commented on the strategic research priorities of the Institute, and Program Director Dr. Laura Mamounas served as moderator of the panel discussion. The Tourette Syndrome Association and its leaders superbly represented families of children affected by the disorder and actively participated in discussions on research priorities. Sue Levi Pearl, vice president for Medical and Scientific Programs of the Tourette Syndrome Association, organized one of the most memorable lunchtime programs in which affected children answered questions from attendees and in which an HBO film on Tourette syndrome was previewed as one should expect in Hollywood! I wish to express my sincere appreciation to the National Institute of Neurologic Disorders and Stroke, the Child Neurology Society, and the Tourette Syndrome Association for cosponsoring the conference and for making it possible for children to teach us about the disorder. I thank Drs Singer and Goodman for their leadership in ensuring quality presentations Received April 10, 2006. Accepted for publication April 10, 2006. From the Charles P. Darby Children’s Research Institute, Medical University of South Carolina, Charleston, SC. Address correspondence to Dr Bernard L. Maria, Medical University of South Carolina, Children’s Research Institute, 173 Ashley Avenue, PO Box 250514, Charleston, SC 29425. Tel: 843-792-7715; fax: 843-792-7716; e-mail: mariabl@musc.edu.