Gilles de la Tourette's syndrome

Definition

Tourette syndrome (TS) is an inherited disease of the nervous system, first described more than a century ago by a pioneering French neurologist, George Gilles de la Tourette. Before age 18, patients with TS develop motor tics; that is, repeated, jerky, purposeless muscle movements in almost any part of the body. Patients also develop vocal tics, which occur in the form of loud grunting or barking noises, or in some cases words or phrases. In most cases, the tics come and go, and are often replaced by different sounds or movements. The tics may become more complex as the patient grows older.

Description

TS is three times more common in men than in women. The motor tics, which usually occur in brief episodes several times a day, may make it very hard for the patient to perform simple acts like tying shoelaces, not to mention work-related tasks or driving. In addition, TS may have negative effects on the patient's social development. Some patients have an irresistible urge to curse or use offensive racial terms (a condition called coprolalia), though these impulses are not under voluntary control. Other people may not enjoy associating with TS patients. Even if they are accepted socially, TS patients live in fear of offending others and embarrassing themselves. In time, they may close themselves off from former friends and even relatives.

The tics of TS are often described as involuntary, meaning that patients cannot stop them. This description is not strictly true, however. A tic is a very strong urge to make a certain motion or sound. It is more like an itch that demands to be scratched. Some patients are able to control their tics for several hours, but once they are allowed expression, they are even stronger and last longer. Tics become worse when the patient is under stress, and usually are much less of a problem during sleep.

Some people with TS have trouble paying attention. They often seem grumpy and may have periods of depression. TS patients may think the same thoughts over and over, a mental tic known as an obsession. It is these features that place TS patients on the border between diseases of the nervous system and psychiatric illness. In fact, before research showed that the brains of TS patients undergo abnormal chemical changes, many doctors were convinced that TS was a mental disorder. It still is not clear whether these behaviors are a direct result of TS itself, or a reaction to the stress of having to live with the disease.

Causes & symptoms

Research has demonstrated that in TS, there is a malfunction in the brain's production or use of important substances called neurotransmitters. Neurotransmitters are chemicals that control the signals that are sent along the nerve cells. The neurotransmitters dopamine and serotonin have been implicated in TS; noradrenaline is thought to be the most important stimulant. Medications that mimic noradrenaline may cause tics in susceptible patients. TS is inherited. If one parent has TS, each child has a 50% chance of getting the abnormal gene. Seven of every 10 girls who inherit the gene, and nearly all boys who inherit it, will develop symptoms of TS. Overall, about one in every 2,500 persons has full-blown TS. Three times as many will have some features, usually chronic motor tics or obsessive thoughts. Patients with TS are more likely to have trouble controlling their impulses, to have dyslexia or other learning problems, and to talk in their sleep or wake frequently. Compulsive behavior, such as constantly washing the hands or repeatedly checking that a door is locked, is a common feature of TS. Compulsions are seen in 30-90% of all TS patients.

Motor tics in TS can be classified as simple or complex. Simple tics are sudden, brief movements involving a single group of muscles or a few groups, which may be repeated several times. Complex tics consist of a repeated pattern of movements that can involve several muscle groups and usually occur in the same order. For instance, a boy with TS may repeatedly move his head from side to side, blink his eyes, open his mouth, and stretch his neck. Vocal tics may be sounds or noises that lack all meaning, or repeated words and phrases that can be understood. Tics tend to get worse and better in cycles, and patients can develop new tics as they grow older. The symptoms of TS may get much better for weeks or months at a time, only to worsen later.

The following examples show why TS can be such a strange and dramatic disorder:

• Simple motor tics. These may include blinking the eyes, pouting the lips, shaking or jerking the head, shrugging the shoulders, and grimacing or making faces. Any part of the body may be tensed up or rapidly jerked, or a patient may suddenly kick. Rapid finger movements are common, as are snapping the jaws and clicking the teeth.
• Complex motor tics. These may include jumping, touching parts of the body or certain objects, smelling things over and over, stamping the feet, and twirling about. Some TS patients throw objects, others arrange things in a certain way. Biting, head-banging, writhing movements, rolling the eyes up or from side to side, and sticking out the tongue may all be seen. A child may write the same letter or word over and over, or may tear apart papers and books. Though they do not intend to be offensive, TS patients may make obscene gestures like "giving the finger," or they may imitate any movements or gestures made by others.
• Simple vocal tics. These include clearing the throat, coughing, snorting, barking, grunting, yelping, and clicking the tongue. Patients may screech or make whistling, hissing, or sucking sounds. They may repeat sounds such as "uh, uh," or "eee."
• Complex vocal tics and patterns. Older children with TS may repeat a phrase such as "Oh boy," "All right," or "What's that?" Or they may repeat everything they, or others, say a certain number of times. Some patients speak very rapidly or loudly, or in a strange tone or accent. Coprolalia (saying "dirty words" or suggestive or hostile phrases) is probably the best known feature of TS, but fewer than one-third of all patients display this symptom.

Behavioral abnormalities that may be associated with TS include attention deficit hyperactivity disorder (ADHD) and disruptive behaviors, including conduct disorder and oppositional defiant disorder, with aggressive, destructive, antisocial, or negativistic behavior. Academic disorders, learning disorders , and sleep abnormalities (such as sleepwalking and nightmares) are also seen in TS patients.

Diagnosis

There are no specific tests for TS. TS is diagnosed by observing the symptoms and asking whether relatives have had a similar condition. To qualify as TS, both motor and vocal tics should be present for at least a year and should begin before age 18 (or, some believe, age 21). Often, the diagnosis is delayed because the patient is misunderstood not only at home and at school, but in the doctor's office as well. It may take some time for the patient to trust the doctor enough not to suppress the strangest or most alarming tics. Blood tests may be done in some cases to rule out other movement disorders. A test of the brain's electrical activity (electroencephalograph or EEG) is often abnormal in TS, but not specific. A thorough medication history is very important in making the diagnosis as well, because stimulant drugs may provoke tics or aggravate the symptoms of TS.

Treatment

Although there is no cure for TS, many alternative treatments may lessen the severity and frequency of the tics. These include:

• Acupuncture. In one study, acupuncture treatment of 156 children with TS had a 92.3% effective rate.
• Behavioral treatments. Some of these can help TS patients control tics. A large variety of these methods exist, some with proven success.
• Cognitive behavioral therapy . This form of therapy helps the patient to change his or her ingrained response to a particular stimulus. It is somewhat effective in treating the obsessive-compulsive behaviors associated with TS.
• Neurofeedback (electroencephalographic biofeedback). In neurofeedback, the patient learns to control brain wave patterns; it may be effective in reducing the symptoms of TS. There are, however, no data on this modality as a treatment for TS.
• Psychotherapy. This form of treatment can help the TS patient, and his or her family, cope with depression, poor relationships, and other issues commonly associated with TS.
• Relaxation techniques. Yoga and progressive muscular relaxation are believed to help TS, especially when used in combination with other treatments, because they lower the patient's stress level. One small study found that relaxation therapy (awareness training, deep breathing, behavioral relaxation training, applied relaxation techniques, and biofeedback) reduced the severity of tics, although the difference between the treatment group and control group was not statistically significant.
• Stress reduction training. This training may help relieve the symptoms of TS because stress worsens the tics.
• Other alternative therapies. Homeopathy, hypnosis, and guided imagery , and eliminating allergy-provoking foods from the diet have all been reported as helping some TS patients.

Allopathic treatment

Most TS patients do not need to take drugs, as their tics do not seriously interfere with their lives. Drugs that are used to reduce the symptoms of TS include haloperidol (Haldol), pimozide (Orap), clonidine (Catapres), guanfacine (Tenex), and risperidone (Risperdal).

Stereotactic treatment, which is high-frequency stimulation of specific regions of the brain, was reported to be successful in significantly reducing tics in a TS patient who had failed to respond to other treatments.

Expected results

Although there is no cure for TS, many patients improve as they grow older, often to the point where they can manage their lives without drugs. A few patients recover completely after their teenage years. Others learn to live with their condition. There is always a risk, however, that a patient who continues having severe tics will become more antisocial or depressed, or develop severe mood swings and panic attacks.

Prevention

The only way to prevent TS is for a couple not to have children when one of them has the condition. Any child of a TS parent, however, has a 50% chance of not inheriting the syndrome.

Key Terms

Biofeedback

A method of learning to modify a body function, such as blood pressure, muscle tension, or rate of breathing, with the help of an electronic instrument.

Compulsion

A very strong urge to do or say something, usually something irrational or contrary to one's will. Compulsions are often experienced as irresistible.

Coprolalia

The involuntary use of vulgar or obscene language.

Dyslexia

Difficulty in reading, spelling, and writing words.

Neurotransmitters

Any of several chemical substances that transmit nerve impulses across the small gaps between nerve cells.

Tic

An involuntary, sudden, spasmodic muscle contraction.

Further Reading

For Your Information

Books

• Landau, Elaine. Tourette Syndrome. Danbury, CT: Franklin Watts, 1998.
• Leckman, James F. and Donald J. Cohen. Tourette's Syndrome--Tics, Obsessions, Compulsions: Developmental Psychopathology and Clinical Care. New York: John Wiley &Sons, Inc., 1998.
• The Merck Manual of Diagnosis and Therapy. Edited by Mark H. Beers, MD, and Robert Berkow, MD. Whitehouse Station, NJ: Merck Research Laboratories, 1999.

Organizations

• National Institute of Neurological Disorders and Stroke. National Institutes of Health. 9000 Rockville Pike, Bethesda, MD 20892. (301) 496-5751. http://www.ninds.nih.gov.
• Tourette Syndrome Association, Inc. 42-40 Bell Boulevard. Bayside, New York 11361-2820. (718) 224-2999. Fax: (718) 279-9596. tourette@ix.netcom.com. http://tsa.mgh.harvard.edu.

Other

• Guide to the Diagnosis and Treatment of Tourette Syndrome. Internet Mental Health. http://www.mentalhealth.com.

Gale Encyclopedia of Alternative Medicine. Gale Group, 2001.