Ruth Bruun, M.D., is a semi-retired psychiatrist in Riverhead, N.Y. Her interest in Tourette’s syndrome started during her psychiatry residency in the early 1970s. “I asked my superiors whether they would give me some exposure to neurologically based patients,” she recalled during a recent interview. “So they sent me a Tourette’s patient. Nobody knew anything about it really. It was considered an extraordinarily rare disease.”
Even during the 1980s, “Tourette’s was considered to be an extremely rare condition, one that most physicians wouldn’t expect to see in their practices,” Cathy Budman, M.D., a professor of psychiatry at Hofstra University and a Tourette’s expert, said.
For example, the first Tourette’s patient she encountered during her psychiatry residency “was spitting, twirling, and making all sorts of complex repetitive movements and sounds.” He had been misdiagnosed as having schizophrenia, because the complex vocal tics he uttered were presumed to be psychotic ramblings, she recalled.
The good news for Tourette’s patients and their families, however, is that vastly more has been learned about the illness since the 1970s and 1980s, John Walkup, M.D., said. He is director of the Division of Child and Adolescent Psychiatry at New York-Presbyterian Hospital and Weill Cornell Medical College and a Tourette’s expert.
For instance, Walkup said, “In the mid-1980s, if you saw a youngster with Tourette’s symptoms, then maybe one of his parents had them too. And once we realized that the condition ran in families, we were quite sure that genes were involved.” And just this year, a gene that appears to play a causal role in Tourette’s—at least in one family—has been identified, Budman said. It is a rare mutation in the histadine decarboxylase gene. When the mutated gene was incorporated in knockout mice, it produced Tourette-type symptoms.
“Actually one of the interesting features about Tourette’s is that if you do something that requires focus, attention, and motor control – say, sing a song, juggle a ball, or play ping pong – the tics stop,” said James Leckman, M.D., a professor of child psychiatry at Yale University.
The environment also may play a role in Tourette’s, James Leckman, M.D., a professor of child psychiatry at Yale University and a Tourette’s expert, pointed out. For instance, if two identical twins have Tourette’s, the one with the lower birth weight is almost always the one with the worse tics. “And this raises the issue of what is going on during embryonic development. There is some evidence that maternal smoking during pregnancy and maternal stress during pregnancy can contribute to more severe Tourette’s illness.”
Psychosocial stress, even excitement, can provoke outbursts of tics in individuals with Tourette’s, Leckman pointed out. “It is not uncommon for me to get a phone call from a family getting off the plane in Orlando, Florida, and complaining about how bad their child’s tics have become because the child is so excited about visiting Disney World.”
Tourette’s Syndrome Experts Cite Rewards
Treating patients with Tourette’s syndrome can be very gratifying, experts on the illness interviewed by Psychiatric News agreed.
“Many young patients with Tourette’s profit from treatment,” said Cathy Budman, M.D., a professor of psychiatry at Hofstra University. “And the good news about Tourette’s syndrome is that for most people, the tics tend to improve quite a bit by late adolescence and early adulthood.”
“Most patients get better, most patients do very well,” John Walkup, M.D., director of the Division of Child and Adolescent Psychiatry at New York-Presbyterian Hospital and Weill Cornell Medical College, attested. “You can help them not only with their tics, but with their anxiety, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, or other comorbidities. Often such comorbidities are more of a problem for someone with Tourette’s than their tics are.”
“Getting to know Tourette’s patients and their specialness can also be rewarding,” said James Leckman, M.D., a professor of psychiatry at Yale University School of Medicine. “Tourette’s patients are often extremely artistic or creative, I’ve found. It may be because their brains interconnect in ways that differ from the brains of other people.”
Scientists now realize that Tourette’s tics probably arise from deep in the brain—at the level of the basal ganglia, Budman said. And the interneurons within the basal ganglia causing these excessive hyperkinetic movements may be to blame, Leckman reported, since postmortem brain studies have indicated that interneurons in the basal ganglia are diminished in individuals with severe Tourette’s. Interneurons, he explained, exist within the basal ganglia and orchestrate, to some degree, what types of information the neurons in the basal ganglia convey to other parts of the brain.
“There is also some emerging information about the importance of neuroinflammatory processes in the brains of individuals with Tourette’s,” Leckman noted.
And just as more has been learned about Tourette’s in recent years, progress has also been made in devising effective treatments for it.
There are two medication groups that are effective in subduing Tourette’s tics, Walkup said. “One is the alpha agonists—medicines like clonidine—and the other is the antipsychotics. They help because they block dopamine.”
Regarding the alpha agonists, he explained, “Most side effects are identified early in treatment, and if a young person can’t tolerate them at a certain dose, then you go down in the dose. And if that doesn’t work, then you discontinue it. There are really no ill effects from having given the medication to see whether it is useful or not in a particular patient.” As for the antipsychotics, he said, “Many people do well on low doses, but the doses are not always easy to tolerate.”
“Usually when patients come to me and require medication for tics, I start them on what I consider to be the mildest medication, which would be the alpha adrenergic blockers such as clonidine, especially if they are children,” Bruun said. “If that doesn’t work, then I go on to the antipsychotics. In the old days, haloperidol was considered the medication to use, but not today, and I use it only as a last resort. I try to use the newer antipsychotics first and in low doses. Most patients don’t require that much.”
Then during the past two years or so, a cognitive-behavioral intervention for Tourette’s has emerged that appears to be effective in suppressing tics, said Walkup. It is called the comprehensive behavioral intervention for Tourette’s (CBIT).
“Actually, one of the interesting features about Tourette’s is that if you do something that requires focus, attention, and motor control—say, sing a song, juggle a ball, or play ping pong—the tics stop,” Leckman said. “CBIT is based on this principle. First a patient has to become aware of the urges to tic, then produce a competing response—say, sing a song or toss a ball—whenever he or she feels the urges. And as the patient engages in the competing response, the urge to tic diminishes.”
“CBIT has been demonstrated to be quite effective for both children and adults with Tourette’s tics,” Budman commented, “and in the case of children, it actually has an effect size that is comparable to risperidone, which is pretty exciting considering that it is a nonpharmacological intervention.”
And still more knowledge about Tourette’s and ways to treat Tourette’s patients may be coming during the next decade or so.
“I think we’ll have a better understanding of what the brain mechanisms of Tourette’s are,” Leckman predicted. “I think the neuroinflammatory story will emerge. Also regarding the affective disorders, autism, and schizophrenia, there is a limited amount of data emerging that suggest that inflammatory processes may be an important element in the etiology of these conditions.”
“We would love to be able to identify the genetic causes,” Walkup stated. “That is something various Tourette’s experts are working on. Although certain brain regions appear to be involved in Tourette’s, we still don’t know where Tourette’s really originates. So brain imaging studies are important. And even though most patients get better with medication or behavioral treatment, there is still a minority who have symptoms in spite of what we do. It would be great to have more effective treatments.”
“It is quite likely that we will be learning more about the genetics of Tourette’s,” Budman said, “and such knowledge will help us become much more adept at treating different clinical presentations of Tourette’s instead of the trial-and-error method we have been using up to now. I think the neuroimaging and neurophysiology studies will be very fruitful. And if we come up with a good animal model for Tourette’s, progress in combatting it will be that much faster.” ■