Tourette syndrome

Definition

Tourette syndrome (TS) is an inherited disease of the nervous system, first described more than a century ago by the pioneering French neurologist, Dr. George Gilles de la Tourette. Before age 18, patients with TS develop motor tics, that is, repeated, jerky, stereotyped, purposeless muscle movements in almost any part of the body. Vocal tics 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 they often are replaced by different types of sounds or movements, which 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 bouts 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 be very detrimental socially. Some patients have an irresistible urge to curse or use offensive racial terms (a condition called coprolalia), though this is not under voluntary control. Other people may not wish to be with TS patients and, even if they are accepted, TS patients live in fear of shocking others and embarrassing themselves. In time, they may close themselves off from former friends and even relatives.

The tics of TS often are said to be "involuntary," meaning that patients cannot stop them. This is not strictly true, however. A tic is not like a spasm, but rather a very strong urge to make a certain motion or sound. It is more like a mosquito bite that "has" to be scratched. Some patients are able to control their tics for several hours, but once they are allowed to come out, 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 great sadness (depression). TS patients may think the same thoughts over and over, a sort of "mental tic" known as an obsession. It is these features that place TS patients on the border between disease of the nervous system and mental illness. In fact, before research showed that there are abnormal chemical changes in the brain in TS, many doctors were convinced that TS was an abnormal mental state. 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 shows that, in TS, something is wrong with the way in which the brain produces or uses important substances called neurotransmitters, which control how signals 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.) Whatever the exact defect, it is handed down through the genes from parents to children. If one parent has TS, each child has a 50% chance of getting the abnormal gene. Seven of every ten 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 during 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, seen in 30-90% of all patients.

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.

A number of examples will show why TS can be such a strange and dramatic disorder:

• Simple motor tics (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 out. Rapid finger movements are common, as are snapping the jaws and clicking the teeth.
• Complex motor tics (jumping, touching part 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 (snake-like) movements, rolling the eyes up or from side to side, and sticking out the tongue all may 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 mean to, TS patients may make obscene gestures like "giving the finger," or they may imitate any movements or gestures made by others.
• Simple vocal tics (clearing the throat, coughing, snorting, barking, grunting, yelping, 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 phrases that are sexual or aggressive) is probably the best known feature of TS, but fewer than one-third of all patients actually do this.

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.

Diagnosis

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). There are no specific tests for TS. Often, the diagnosis is delayed because the patient is misunderstood not only at home and at school, but often 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 our other movement disorders. A test of the brain's electrical activity (electroencephalograph or EEG) is often abnormal, but not specific. Medication history is very important in making the diagnosis as well, because stimulant drugs my provoke tics or aggravate the symptoms of TS.

Treatment

A majority of patients with TS do not need to take drugs, as their tics do not interfere much with their lives, and they develop normally. In serious cases, a drug used to treat severe mental illness, such as haloperidol (Haldol) or pimozide (Orap), is given, starting with a very low dose and increasing until the tics respond without side effects occurring. Researchers are developing new antipsychotic drugs that may be targeted to particular symptoms of TS. Clonidine, a drug used to treat high blood pressure, works well against motor tics but may not always relieve vocal tics. Older children tend to do well with this drug, and side effects are less of a problem than with antipsychotic drugs. Clonidine helps TS children who have trouble focusing their attention, and also makes patients less frightened about their tics.

Medications used in TS should be tapered gradually to avoid worsening of symptoms when the drug is discontinued. It may be a good idea to simply observe a TS patient for weeks or even months before starting drug treatment. Usually, after two to three years, TS will be as severe as it is going to get. In the late teenage years, tics often get better by themselves. A calm, reassuring approach will help the patient and family to understand the condition and encourage them to cooperate with treatment. TS children may do quite well in a regular classroom, but those with severe tics should be in a setting that meets their needs, whether this means smaller or special classes, a private place to study, or tutoring.

Alternative treatment

Talking with a counselor or psychiatrist will not help a TS patient to suppress his tics, but it may help him learn to cope with the disorder and deal with social problems. Like any chronic childhood illness, TS places great strain on the family. Family therapy will clarify what effects the TS child is having on the family's life, and help the parents and siblings to provide special help when needed, without being overly protective. Learning to relax may mean fewer and less severe tics. Progressive muscular relaxation is one method, yoga another. Biofeedback is another way of relieving stress. Homeopathic constitutional care can also help patients with TS, as can eating a healthy, well-balanced diet.

Prognosis

Although there is no cure for TS, many patients improve as they grow older, often to the point where they can do without drugs. A few patients recover completely after their teenage years. Others learn to live with their condition. TS does not impair thinking or intelligence. 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. However, any child of a TS parent has a 50% chance of not inheriting the syndrome.

Key Terms

Biofeedback

The process of providing a patient with information on a function, such as blood pressure, muscle tension, or rate of breathing, so that it can be controlled to some extent.

Compulsion

A very strong urge to do or say something, which usually cannot be resisted for long.

Coprolalia

The involuntary use of vulgar or obscene language.

Dyslexia

Difficulty in reading, spelling, and writing words.

Tic

An involuntary muscle contraction.

Further Reading

For Your Information

Books

• Berkow, Robert, ed. The Merck Manual of Diagnosis and Therapy, 16th ed. Rahway, NJ: Merck Research Laboratories, 1992.

  Periodicals

• Alsobrook, J.P. II, and D.L. Pauls. "The Genetics of Tourette Syndrome." Neurologic Clinics 15(May 1997): 381-393.
• Chappell, P.B., L.D. Scahill, and J.F. Leckman. "Future Therapies of Tourette Syndrome." Neurologic Clinics 15(May 1997): 429-450.
• Eidelberg, D., et al. "The Metabolic Anatomy of Tourette's Syndrome." Neurology 48(April 1997): 927-934.
• Freeman, R.D. "Attention Deficit Hyperactivity Disorder in the Presence of Tourette Syndrome." Neurologic Clinics 15(May 1997) :411-420.
• Lichter, D.G., and L.A. Jackson. "Predictors of Clonidine Response in Tourette Syndrome: Implications and Inferences." Journal of Child Neurology 11(March 1997): 93-97.

  Organizations

• National Institute of Neurological Disorders and Stroke. National Institutes of Health, Bethesda, MD 20892.
• National Tourette Syndrome Association, Inc. 42-40 Bell Boulevard, Bayside, New York 11361-2820. (718) 224-2999. Fax: (718) 279-9596. tourette@ix.netcom.com.

  Other

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

Gale Encyclopedia of Medicine. Gale Research, 1999.