THE HEART OF THE MATTER
a special program of the National Emergency Medicine Association (NEMA) 

Week: 562.6 Guest: Dr. John Walkup, Assoc. Prof. Child and Adolescent Psychiatry, Johns Hopkins Medical Inst. Topic: Tourette Syndrome, background and developments Producer/Host: Steve Girard

NEMA: Tourette Syndrome is a puzzle to medical investigators. What complicated physiological mechanism could force someone to move and twitch... grunt, bark, hum...and even utter obscenities? But many researchers are at work on the puzzle, and its connections with Attention Deficit Disorder and Obsessive Compulsive Disorder. We're with Dr. John Walkup, a child and adolescent psychiatrist with the Johns Hopkins Medical Institutions in Baltimore....

WALKUP: I started being interested in Tourette Syndrome in 1985 and '86. And it was during my residency training, fellowship training...and Tourette is often described as a model disorder, and I think it captured my imagination as just that. And as a model disorder, it has a number of unique characteristics or features to it that make it interesting for study...and I think fruitful for study, and serves really as a model or paradigm for the study of other child psychiatric disorders. And that is that it has a window of onset... Tourette usually starts somewhere between 4 years old and 15 years old, and it usually doesn't start in the 30's. So there's something about the developmental period that, in terms of onset and ideology. The other piece is that it's pharmacologically responsive, so that it, the fact that medications have been useful in suppressing tic symptoms suggest that there are brain or biological mechanisms that are involved in tic disorders. The other piece is that it's also very responsive to environmental effects, meaning that not only are there biological issues, but there are environmental or psychological issues, or behavioral issues that are involved in tic severity. The other piece of it is that it runs in families, so it's a genetic disorder also. So, now you have a disorder that's developmental, has biological pieces to it, has environmental pieces to it, and also has kind of a strong genetic component to it. And I think the other thing about Tourette Syndrome is that the majority of families of kids with Tourette Syndrome are committed to their children, have an enormous amount of energy, are very active in working with me, but also the schools, and the community and the media, to kind of promote... general child welfare issues, but particularly focus on the difficulties that children with Tourette Syndrome have.

NEMA: There have been some recent findings...that Johns Hopkins has been instrumental in bringing out... that indicate Tourette's can exist in families in mild forms, then finally manifest itself full blown in a descendant....tell me more about that....

WALKUP: The conventional wisdom about Tourette is that it is caused by a gene that is dominant, as opposed to recessive. And a dominant gene is a gene that if you have it, it is expressed. So, common dominant genes that most everybody knows about is Lou Gehrig's disease, or Huntingdon's Corea...that's a disorder that, if you have the gene, you're more than likely to have the disorder at some time in your life. And that's opposed to recessive genes, and the most common one there is Cystic Fibrosis, where many people carry the gene, a single copy of the gene, but just carrying it isn't enough to be affected by it, the people who have Cystic Fibrosis actually have two copies of the disease gene. Well, in Tourette, the conventional wisdom has been that it's a dominant gene, meaning that if you have even just one copy of the gene, that you're going to be affected with some form of the disorder. The kind of interesting part about that is that it's 'some form' of the disorder, so the disorder can be very, very mild. Simple motor tics, like eye blinking or occasional nose wrinkle or a twitch in the cheek...can be all the symptoms someone has, and for all intents and purposes, that person has no disabilities or difficulty...many young people and many adults are not even aware of some of those milder movements... so they may not even perceive themselves as being affected with anything. Our study suggests that it's a much more common gene than has previously been described, and that the gene tends to function not as a dominant gene, but kind of halfway between dominant and recessive, meaning that if you have no copies of the gene, you have little or no risk for Tourette... if you have one copy of the gene, you have some risk... if you have two copies of the gene, you more than likely will be affected with some form of Tourette's syndrome. The other part of our study showed that the gene itself only accounts for about 50% of the risk... that the remaining 50% of the risk is associated with other genetic effects, so... other genes, and some of those are genes that kind of run in families, and other non family genes.... and also, environmental effects. The more you talk to TS experts, and when we present our model, increasing numbers of them look at our model as more realistic than the conventional wisdom of autosomal dominant...simply because most disorders like Tourette do not have a simple, autosomal dominant inheritance, as has been postulated. And more of them have more complicated genetics, even more complicated than our model. NEMA: I understand that Tourette many times runs in conjunction with other disorders, like Attention Deficit and Hyperactivity Disorder... or even Obsessive Compulsive Disorder.... how do those complicate each other, and how is a patient treated so not to counteract things that help the other disorders?

WALKUP: This is a great question...because I think we're on the verge of a shift in focus..... You know, when I first started off... everyone was looking for a way to suppress tics... from a treatment point of view, that was really the focus. And I think what's really happened over the past ten or fifteen years is there's just been an increased awareness, that the tics themselves in the majority of people with Tourette Syndrome, are really not the most impairing condition... that other conditions like Attention Deficit Disorder or Obsessive Compulsive Disorder... and sometimes even major depression or other anxiety disorders.... are the conditions that really impair people's functioning with Tourette Syndrome. And, I'm not saying people aren't impaired by their tics, but that in the vast majority of patients we see in our clinic...they come because of their tics, but it is really the treatment of other conditions which really make a difference in how they live. So, what you're finding is that clinicians are using less and less of the major tranquilizers like Pimizide or Halolperadol - those medicines - for tic suppression, and are really looking to try and understand ways to treat Attention Deficit Disorder, which is complicated in kids with TS, and also Obsessive Compulsive Disorder, as well as other co-morbid conditions. I think the other thing that's happening is that there's a shift in emphasis... a little bit away from medication treatments to also include social treatments. Because youngsters with disabilities have a very hard time with school, with friends.... and increasingly, Moms and Dads... and clinicians are getting tuned into that and thinking about more psychological treatments, or other kinds of interventions which will, can improve the lives of children without necessarily using medicines. So I think the treatment focus has really shifted over the past few years.

NEMA: I have had acquaintance over the years with Tourette affected people, and other than the tics and verbal outbursts, they were pretty even mannered, and good at the things they did...fairly unaffected in doing the things we all do...

WALKUP: There are a number of people within the Tourette Syndrome Association who have very severe tics, but do not have significant co-morbid conditions. Well, some of those folks are fabulously successful: doctors, lawyers, stockbrokers...you know, they make a lot of money, they run businesses... they do very well. On the other hand, people with severe Obsessive Compulsive Disorder, severe depression, those kinds of disorders sap the living strength from people, and make it very difficult for them to be successful over the long haul.

NEMA: A family coming to grips with Tourette Syndrome has a lot to deal with, and a lot of work ahead... what would be your advice to them on succeeding despite the problem....?

WALKUP: The most complete and comprehensive information about the syndrome is available from the Tourette's Syndrome Association at Bayside. While more and more doctors and health providers are aware, there's still common myths about the disorder that are circulating out there among clinicians, and it's really important for families to have the best available information to make decisions. What I tell most of my families is that once you make the diagnosis of TS, or ADHD or OCD... what I'm encouraging Moms and Dads to find out really what kids can do, and then to work together with their youngsters to begin to challenge themselves, so that the youngster with a disability has more control of every other behavior... since they can't control some, they have to be in better control of other behaviors... that they have to be smarter, stronger, more courageous. The youngsters I see who are in the most trouble have been youngsters who have really not been challenged and those are the youngsters that seem to me they have the most disability as they move into their teenage and early adult years. That's a long answer, but what I'm really looking for with my patients is really to think about how to build the strongest, most competent youngster I can, in spite of the disability.

NEMA: Dr. John Walkup, a child and adolescent psychiatrist at the Johns Hopkins Medical Institutions. For more information on Tourette Syndrome, get in touch with the National Tourette Syndrome Association in Bayside, New York, at 718-224-2999.

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NEMA: Join us again, and visit the NEMA / Heart of the Matter home page, at: http://www.NEMAhealth.org I'm Steve Girard for The Heart of the Matter.