TOURETTE SYNDROME

Introduction

Tourette Syndrome (TS) is a neurological disorder characterised by tics (involuntary, rapid, sudden movements that occur repeatedly in the same way). This article provides basic information about Tourette Syndrome to the general public. It is not intended to, nor does it, constitute medical advice. Readers are warned against changing medical schedules or life activities based on this information without first consulting a physician.

In 1825 the first case of TS was reported in medical literature with a description of the Marquise de Dampierre, a noble woman whose symptoms included involuntary tics of many parts of her body and various vocalisations including coproialia and echoialia. She lived to the age of 86 and was described by Dr. George Gilles de la Tourette, the French neurologist for whom the disorder was named. Samuel Johnson, the lexicographer, and Andre Mairaux, the French author, are among the famous people who are thought to have had TS.

The symptoms include:

• both multiple motor and one or more vocal tics present at some time during the illness, although not necessarily simultaneously
• the occurrence of tics many times a day (usually in bouts) nearly every day, or intermittently throughout a span of more than one year
• periodic change in the number, frequency, type and location of the tics, and in the waxing and waning of their severity; symptoms can sometimes disappear for weeks or months at a time
• onset before the age of 21

There is no such thing as a typical TS case. The expression of symptoms covers a spectrum from very mild, which is true of most people, to quite severe.

The term "involuntary", used to describe TS tics, is sometimes confusing since it is known that most people with TS do have some control over their symptoms. What is not recognised is that the control, which can be exerted from seconds to hours at a time, may merely postpone more severe outbursts of symptoms. Tics are experienced as irresistible and eventually must be expressed. People with TS often seek a secluded spot to release their symptoms after delaying them in school or at work. Typically, tics increase as a result of tension or stress, and decrease with relaxation or concentration on an absorbing task.

Classification

TS tics are categorised as either simple or complex. Examples of simple motor tics are:

• eye blinking
• head jerking
• shoulder shrugging
• facial grimacing

Simple vocal tics include:

• throat clearing
• yelping and other noises
• sniffing
• tongue clicking

Complex motor tics include:

• jumping
• touching other people or things
• smelling
• twirling about
• (sometimes) self-injurious actions, including hitting or biting oneself.

Examples of complex vocal tics are:

• uttering words or phrases out of context
• coprolalia (vocalising socially unacceptable words)
• echoialia (repeating a sound, word, or phrase just heard).

The range of tics or tic-like symptoms that can be seen in TS is very broad. The complexity of some symptoms is often perplexing to family members, friends, teachers, and employers who may find it hard to believe that the actions or vocal utterances are involuntary.

Associated behaviours

Not all TS sufferers exhibit other associated behaviour, but many do have additional problems.

Obsessive compulsive and ritualistic behaviour occurs when the person feels that something must be done repeatedly. Examples include touching an object with one hand after touching it with the other hand to "even things up", or repeatedly checking to see that the heat on the oven is turned off. Children sometimes beg their parents to repeat a sentence many times until it "sounds right".

Hyperactivity with or without Attention Deficit Disorder (ADHD) occurs in many people with TS. Children may show signs of hyperactivity before TS symptoms appear. Indications of ADHD may include: difficulty with concentration; failing to finish what is started; not listening; being easily distracted; often acting before thinking; shifting constantly from one activity to another; needing a great deal of supervision; and general fidgeting. Adults may also exhibit signs of ADHD, such as overly impulsive behaviour and concentration difficulties.

Learning disabilities such as reading and writing difficulties, arithmetic disorders, and perceptual problems, may occur. Difficulties with impulse control may result (in rare instances) in overly aggressive behaviour or socially inappropriate acts. Also, defiant and angry behaviours can occur. Sleep disorders are fairly common among people with TS. These include frequent awakenings or walking or talking in one's sleep.

Initial symptoms

The most common first symptom is a facial tic (e.g. rapidly blinking eyes, twitches of the mouth). However, involuntary sounds such as throat clearing and sniffing, or tics of the limbs may be the initial signs. For some, the disorder begins abruptly with multiple symptoms of movements and sounds.

Causes

The cause has not been established, although current research presents considerable evidence that the disorder stems from the abnormal metabolism of at least one brain chemical (neurotransmitter) called dopamine. Undoubtedly, other neurotransmitters (e.g. serotonin) are also involved.

Inheritance

Genetic studies indicate that TS is inherited as a dominant gene that causes varying symptoms in different family members. A person with TS has about a 50% chance of passing on the gene to one of his/her children. However, that genetic predisposition may express itself as TS, as a milder tic disorder, or as obsessive compulsive symptoms with no tics at all. It is known that a higher than normal incidence of milder tic disorders and obsessive compulsive behaviours occur in the families of TS patients.

The sex of the child also influences the expression of the gene. The chance that the child of a person with TS will have symptoms is at least three to four times higher for a son than for a daughter. Yet only about 10% of the children who inherit the gene have symptoms severe enough to ever require medical attention. In some cases TS may not be inherited, and is identified as sporadic TS. The cause in these cases is unknown.

Diagnosis

The diagnosis is made by observing the symptoms and by evaluating the history of their onset. No blood analysis or other type of neurological testing exists to diagnose TS. However, some physicians may wish to order an EEG, MRI, CAT scan, or certain blood tests to rule out other ailments that might be confused with TS. Rating scales are available for assessment of tic severity.

Treatment

There is no known cure at present. However, some people experience marked improvement in their late teens or early twenties. Many of the people with TS get better, not worse, as they mature, and those diagnosed with TS can anticipate a normal life span. There are several reports of a complete remission of symptoms.

The majority of people with TS are bled by their tics or behavioural symptoms, and their medication. However, some medications interfere with function. Lude haloperidol (Haidol), clonidine (Catapres), pi'mi nazine (Prolixin, Permitil), and clonazepam (Kionopji as Ritalin), Cylert, and Dexedrine, that are prescribed for hyperactivity may increase tics. Their use is controversial. For obsessive compulsive traits which interfere significantly with daily functioning, fiuoxedne (Prozac) and clomipramine (Anafranil) are prescribed.

The dosage necessary to achieve maximum control of symptoms varies for each patient and must be gauged carefully by a doctor. The medicine is administered in small doses with gradual increases to the point where there is a maximum alleviation of symptoms, with minimal side-effects. Some of the undesirable reactions to medications are weight gain, muscular rigidity, fatigue, and motor restlessness, most of which can be reduced with specific medications. Side-effects that include depression and cognitive impairment can be alleviated with dosage reduction or a change of medication.

Other types of therapy may also be helpful. Psychotherapy can assist a person with TS and help the family cope, and some behaviour therapies can teach the substitution of one tic for another that is more acceptable. The use of relaxation techniques and/or biofeedback can serve to alleviate stress reactions that cause tics to increase.

Current research

Since 1984, the Tourette Syndrome Association (TSA) has directly funded important research investigations in a number of scientific areas relevant to TS. Recently, studies have intensified to understand how the disorder is transmitted from one generation to the next, and researchers are working toward locating the gene marker for TS. That focus has been enhanced by the efforts of a TSA-supported international group of scientists who have formed a unique network to share what they know about the genetics of TS, and to systematically co-operate to unravel the unknown. Additional insights will be obtained from studies of large families (kindreds) with numerous members who have TS. At the same time, investigators continue to study specific groups of brain chemicals to better understand the syndrome and to identify new and improved medications.

Prevalence

Since many people with TS have yet to be diagnosed, there are no absolute figures. The official estimate by the National Institutes of Health is that 100,000 Americans have full-blown TS. Some genetic studies suggest that the figure may be as high as one in two hundred, if those with chronic multiple tics and/or transient childhood tics are included in the count.

Special educational needs

Although school children with TS have the same IQ range as the population at large, many have special educational needs. It is estimated that many may have some kind of learning problem. That condition, combined with attention deficits and the problems inherent in dealing with the frequent tics, often requires special educational assistance. The use of tape recorders, typewriters, or computers, for reading and writing problems, untimed exams (in a private room if vocal tics are a problem), and permission to leave the classroom when tics become overwhelming, are often helpful.

Some children need extra help, such as access to tutoring in a resource room. When difficulties in school cannot be resolved, an educational evaluation may be indicated. Such an approach can significantly reduce the learning difficulties that prevent the young person from performing at his/her potential. The child who cannot be adequately educated in a public school with special services geared to his/her individual needs may be served best by a special school.

Early treatment

It is important to treat TS early, especially in those instances when the symptomatology of the condition is viewed by some people as bizarre, disruptive, and frightening. TS symptoms frequently provoke ridicule and rejection by peers, neighbours, teachers, and even casual observers. Parents may be overwhelmed by the strangeness of their child's behaviour. The child may be threatened, excluded from activities, and prevented from enjoying normal interpersonal relationships. These difficulties may become greater during adolescence, an especially trying period for young people and even more so for a person coping with a neurological problem. To avoid psychological harm, early diagnosis and treatment are crucial. Moreover, in more serious cases, it is possible to control the symptoms with medication.

Support

Local TSA support groups allow families to exchange ideas and feelings about their common problems. Often family therapy is helpful. Parents of a child with TS have to walk a fine line between understanding and overprotection. They are constantly faced with deciding whether or not certain actions are the expression of TS, or just poor behaviour. Parents then must determine the appropriate response. For socially unacceptable behaviour, a child should be encouraged to control it whenever possible, and to try to substitute something more socially acceptable. Parents are urged to give their children with TS the opportunity for as much independence as possible, while gently but firmly limiting attempts by some children to use their symptoms to control those around them.