Affecting as many as 300,000 children (around one in 160) in the United States, Tourette syndrome nevertheless tends to fall under the health care system’s radar. The condition is often underrecognized and can be complicated by anxiety, obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD) and depression.
At Vanderbilt University Medical Center, David Isaacs, M.D., an adult neurologist, and Heather Riordan, M.D., a pediatric neurologist, are leading a multidisciplinary team seeking designation as a Center of Excellence for Tourette syndrome. In addition to offering comprehensive, personalized care for pediatric and adult patients, the center will pursue a larger mission to advance Tourette syndrome research and education, explains Riordan.
“A lot of what we are working on is raising awareness in the medical community as well as in the general public,” Riordan said.
The center will have multiple emphases: ensuring patients have broad treatment options including non-pharmacologic interventions; conducting research that identifies markers for new therapeutic avenues; and offering multidisciplinary resources to ensure comprehensive care.
Bringing Care to “No-man’s Land”
Isaacs says for most patients, symptoms attenuate greatly by around 18 years old. But for about one-third, symptoms persist into adulthood, and for them, there is often additional dropout in support from the health care system.
“Many of the adult patients I see with Tourette syndrome have struggled to find appropriate resources because it is often considered a pediatric syndrome. Adult patients can find themselves in a kind of ‘no-man’s land,’ with few providers who treat the complex of conditions they often face.”
“Many of the adult patients I see with Tourette syndrome have struggled to find appropriate resources because it is often considered a pediatric syndrome.”
Isaac’s hope is that achieving the Center of Excellence designation for Tourette syndrome will attract adult patients who may have given up long ago. “We want to show them that it’s not too late to address their tics and psychiatric comorbidities and to start feeling better.”
The Research Challenge
Tourette syndrome is associated with clear abnormalities in the cortico-striato-thalamocortical loop, but the precise pathophysiology remains poorly understood. “The biggest challenge is the phenotypic complexity,” Isaacs said. “Children and adolescents with Tourette syndrome are undergoing development, plus they frequently have concurrent conditions. It can be difficult to decipher and manage the various interrelated symptoms.”
Isaacs and Riordan are working to isolate and study elements of the syndrome. In one study, they are examining associations between brain activity and heightened sensitivity to sensory stimuli, a common but underrecognized symptom of Tourette syndrome. Using patient questionnaires and advanced EEG techniques, they are currently correlating responses to questions about sensory experiences with brain wave activity.
“Children and adolescents with Tourette syndrome are undergoing development, plus they frequently have concurrent conditions. It can be difficult to decipher and manage the various interrelated symptoms.”
“We hope to gain insights into mechanisms underlying sensory symptoms and find a candidate marker that has diagnostic, prognostic, and/or therapeutic value,” Isaacs said.
Expanding Treatment Options
Isaacs and his team are finding success using Comprehensive Behavioral Therapy for Tics (CBIT). CBIT teaches patients to manage their tics through relaxation techniques and developing competing responses. It also involves enhanced awareness of situations that exacerbate tics.
New medications are also offering hope for better symptom control. Psyadon Pharmaceuticals just completed a multinational phase 2b pediatric trial of a promising new drug, ecopipam, and is enrolling for phase 3 trials. Currently, there are three FDA-approved medications for treating Tourette syndrome, all of which target tics by inhibiting D2 dopamine receptors. Ecopipam is the first to target D1 receptor sites.
Isaacs is the primary investigator for the Vanderbilt site. “Early phase studies have shown ecopipam is well-tolerated and reduces tics,” Isaacs said. “The evidence to date suggests it may effectively work without the side effects of weight gain, sedation or heart rhythm irregularities that can accompany currently available treatments.”