TOURETTE SYNDROME
Tourette syndrome is a debilitating tic disorder that causes frequent motor and speech tics. To qualify as a typical case, the onset must be before age 21 and involve recurrent involuntary, rapid, purposeless movements affecting multiple muscle groups. In addition, there must be one or more vocal tics. The symptoms vary over time and must last over one year. The diagnosis may be complicated by symptoms of other psychiatric illnesses such as obsessive-compulsive disorder, attention deficit hyperactivity disorder, epilepsy, nervous habits and schizophrenia.
The simple motor tics are not simple muscle twitches or quivering of tiny isolated muscles. They involve larger groups of muscles and if complex in nature, may include hopping, clapping, whirling, touching objects or obscene gestures. The motor tics may become compulsive and the person will repeat a certain movement repeatedly.
Vocal tics may be simple sounds such as barking, hissing, coughing or clicking noises. Complex tics involve words or phrases. These often impede normal speech, especially at the start of a sentence or transitional phrase within a sentence. Some people (anywhere from 5-40% in surveys) suffer from coprolalia, which is the explosive utterance of curse words or phrases. Some people will repeat what they have just heard, seen or said.
The nature of the syndrome is such that both biological factors and psychological factors appear to be involved. The often dramatic response to neuroleptic medications such as haloperidol and pimozide indicates that the cause may be hypersensitive dopamine receptors in the brain. Other neurotransmitters in the brain are also likely to play a role in Tourette’s. Studies of families with Tourette’s syndrome show that it is definitely genetic and appears to be related to an autosomal dominant gene. Males who get the gene are 99% likely to have some or all of the features of the syndrome. Females have a 67% chance of being affected if they receive the gene. About 10% of cases do not appear to have a genetic cause.
Studies have shown that use of stimulant medications (such as are used in Attention deficit hyperactivity) may trigger symptoms of Tourette’s syndrome. In addition, use of stimulant medication has worsened tics in 25-50% of people with Tourette’s who were placed on it. Children with close relatives with Tourette’s syndrome who are diagnosed with Attention deficit hyperactivity should have very cautious use of stimulant medication since it may trigger the syndrome.
Diagnosis of Tourette’s requires a detailed history of the onset and progression of the symptoms. The patient may be able to suppress the worst symptoms while in the doctor’s office so interviews with the family are very helpful. Learning disabilities, poor school or work performance and dysfunctional family relationships may all be present due to the syndrome. The IQ of patients is typically normal. EEG’s (brain wave recordings) are often abnormal but nonspecific. Laboratory blood tests are usually normal.
Treatment may consist of monitoring of symptoms and reassurance. Many children and adults are able to live relatively normal lives despite the symptoms. If not, the only proven treatment is medication. The use of haloperidol goes back to the 1960’s and it is often quite effective at relieving symptoms at very low doses of 2-4 milligrams daily. Several other medications are also effective with differing side effect profiles and effectiveness. The Tourette Syndrome Association is a national organization with information about this intriguing and unusual syndrome.
Daniel Blodgett MD