Tourette syndrome

Definition

Tourette syndrome (TS) is an inherited neurological disorder that typically appears in childhood. The main features of TS are repeated movements and vocalizations called tics. TS can also be associated with behavioral and developmental problems.

Description

Tourette syndrome is a variable disorder with onset in childhood. Though symptoms can appear anywhere between the ages of two and 18, typical onset is around age six or seven. Tics, which may be motor or vocal, tend to wax and wane (increase and decrease) in severity over time. Facial tics, such as rapid blinking or mouth twitches, are the most common initial sign of TS. Other early symptoms include involuntary sounds such as throat clearing and sniffing, or tics of the limbs. Symptoms usually intensify during teenage years and diminish in late adolescence or early adulthood. Patients may also develop co-occurring behavioral disorders, namely obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD) or attention deficit disorder (ADD), poor impulse control, and/or sleep disorders. Though some children have learning disabilities, intelligence is not impaired. TS is not degenerative and life span is normal.

Tourette syndrome is classified by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision (DSM-IV-TR) as a "Tic Disorder." The International Classification of Disease and Related Health Problems, Tenth Revision (ICD-10) calls TS a "combined vocal and multiple motor tic disorder (de la Tourette's syndrome)." A French neurologist , Jean Marc Itard, described the first known case of Tourette syndrome in the 1825. He had recorded the ticcing and cursing behavior of an aristocratic woman, Madame de Dampierre. The disorder is named for another French physician, Georges Gilles de la Tourette, who reported a series of cases in 1885, the primary example of which was the marquise. Tourette syndrome may also be referred to as Gilles de la Tourette syndrome (GTS).

Demographics

Tourette syndrome occurs worldwide, in people of all racial and ethnic groups. It is thought that approximately 200,000 people in the United States have TS. About three-quarters of patients are males. Once thought to be a rare disorder, TS is one of the most common genetic conditions. Recent estimates of prevalence suggest that TS occurs in one in 1,000 to one in 100 male children. One report indicated that prevalence may be as high as 25% in children in special education classes.

Causes and symptoms

Genetic factors are believed to play a major role in the development of TS. Several chromosomal regions have been identified as possible locations of genes that confer susceptibility to TS. Some family studies have indicated that TS is inherited in an autosomal dominant manner. In an autosomal dominant condition, an individual has a 50% chance to pass the gene to his or her children. Not everyone who inherits a TS gene will show symptoms. Approximately 70% of females and 99% of males with a TS gene will express symptoms. An individual who inherits the TS gene may develop TS, a milder tic disorder, obsessive-compulsive disorder (OCD) without any tics, or no signs of TS. The gender of a person influences the expression (the disease symptoms and severity) of the TS gene; males are more likely to have TS or tics and females are more likely to have OCD. Approximately one in ten children who inherit the TS gene from a parent will show symptoms that are severe enough to warrant medical treatment.

Non-genetic factors are also believed to contribute to the development of TS. In about 10-15% of cases, TS is not genetic. Certain stressful processes during gestation (pregnancy) or at the time of birth may increase the chance for a person to develop TS. For example, it is known that when both twins have TS, the twin who weighed less at birth tends to have more severe tics. Other non-genetic factors that may predispose a person to TS include: severe psychological trauma, recurrent daily stresses, extreme emotional excitement, PANDAS (pediatric autoimmune neuropsychiatric disorder with streptococcal infection), drug abuse, and certain co-existing medical or psychiatric conditions. In PANDAS, children experience an abrupt onset of TS symptoms and/or obsessive-compulsive symptoms following a strep throat infection.

It is thought that TS is the result of abnormal metabolism of a neurotransmitter (a chemical in the brain that carries signals from one nerve cell to another) called dopamine and possibly of other neurotransmitters including serotonin and norepinephrine. As of December 2003, the exact mechanisms by which the TS gene or genes lead to disease symptoms were unresolved. It is hoped that locating the gene or genes responsible for TS will improve understanding of how TS develops and eventually will lead to more effective treatments.

Tics seen in patients with TS can range in intensity, frequency, duration, type and complexity. Although there is wide range of severity observed in TS, the majority of cases are mild. A minority of patients has symptoms that are severe enough to interfere with daily functioning. In the most severe cases, patients experience numerous debilitating tics during all waking hours. Tics usually occur in "bouts" with many tics over a short interval of time. Many patients experience waxing and waning (fluctuations in severity) of their tics over the course of weeks or months. Tics can be made worse by stress or fatigue and tend to improve when the individual is absorbed in an activity or task that requires concentration. Although the tics associated with TS are involuntary (not deliberate), people with TS can sometimes control their tics for a period of time ranging from minutes to hours. However the tic must eventually be expressed and will come out. Coprolalia, a sensationalized type of tic in which people make obscene or socially inappropriate comments, is present in less than 15% of TS patients.

Tics are classified as either simple or complex. Simple tics are sudden, repetitive movements that involve a limited number of muscle groups. Simple motor tics are fast and without purpose. They can cause both emotional and physical pain (such as head jerking or jaw snapping). Simple vocal tics are meaningless sounds or noises. Complex tics are coordinated patterns of stepwise movements that involve multiple muscle groups. Complex motor tics appear slower and more deliberate than simple motor tics. Complex vocal tics involve meaningful words, phrases or sentences.

SIMPLE MOTOR TICS

• blinking eyes
• jerking head
• shrugging shoulders
• facial grimacing
• rolling eyes up
• squinting
• smacking lips
• jaw snapping

SIMPLE VOCAL TICS

• throat clearing
• yelping
• sniffing
• tongue clicking
• grunting
• coughing
• spitting
• humming
• whistling

COMPLEX MOTOR TICS

• jumping
• touching other people or things
• smelling
• twirling about
• thrusting of arms, groin, or torso
• pinching
• fiddling with clothing
• self-injurious actions including hitting or biting oneself (rare)

COMPLEX VOCAL TICS

• uttering words or phrases out of context
• repeating words or sounds
• stuttering
• repeating others' words (echolalia)
• repeating one's own last word or sound (palilalia)
• talking to oneself
• muttering
• vocalizing socially unacceptable words (a rare tic called coprolalia)

Co-occurring disorders

In addition to tics, patients with TS can also have additional problems that include:

• Obsessive-compulsive disorder (OCD). OCD is a condition characterized by the presence of obsessions (persistent involuntary thoughts, images or impulses that are experienced as unwanted and bothersome) and compulsions (the actual behaviors that are performed over and over in response to the obsessions). Examples of obsessive-compulsive behavior include excessive hand washing and repeatedly checking to see that a door is locked. In patients with TS, onset of OCD usually occurs before puberty and it may lead to serious impairment. It is thought that some forms of OCD have the same etiology (cause) as TS. Obsessive-compulsive behaviors can negatively impact a child's performance at school if they are time-consuming or distracting.
• Attention deficit disorder with or without hyperactivity (ADHD or ADD). Attention deficit disorder may precede symptoms of TS. It is estimated that ADD or ADHD occurs in as many as 75% of individuals with TS. Children with ADHD can be fidgety, have a very short attention span, be impulsive, and have difficulty completing tasks. ADD is similar except without the high level of activity seen in ADHD.
• Learning disabilities. Approximately one-third of patients with TS have a learning disability. Learning disabilities found in TS include difficulties with reading, writing and mathematics, and visual and auditory perception problems. Children with TS can also have dyslexia and problems with retaining information. Some tics seen in TS such as repetitive eye-blinking or head-jerking can make it difficult for the student with TS to read and thus interfere with learning.
• Sleep disorders. Sleep problems such as difficulty falling asleep, waking early, sleepwalking, night terrors and enuresis (bed-wetting) are fairly common in TS. For example, in one study the percentage of different grades of TS patients having trouble getting to sleep ranged from about 45% to 65% as compared to 15% of controls.
• Problems with impulse control. Individuals with TS may display overly aggressive behavior, socially inappropriate acts, self-injurious behavior such as lip biting or banging one's head, and defiant behaviors.

Diagnosis

There is no specific lab test or other medical study that can establish the definitive diagnosis of TS. Usually, diagnosis is made through observation of an individual's symptoms and by assessment of family history. Some patients may undergo blood tests, imaging studies such as magnetic resonance imaging (MRI) , or an electroencephalogram (EEG) scan in order to rule out other possible explanations for the symptoms. The process of making a TS diagnosis usually involves monitoring symptoms over a period of several months. The family may be asked to keep records. This period of observation will help determine to what extent the child's symptoms are interfering with ability to function at home, school, and in the community. A neurological examination may be performed. Assessment of cognitive functioning and school performance may be recommended if the child is having difficulty in school.

The American Psychiatric Association published diagnostic criteria, listed below, is from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision (DSM-IV-TR). Another similar set of criteria exists in the International Classification of Disease and Related Health Problems, Tenth Revision (ICD-10). The ICD-10 criteria are not as strict about the age of onset as the DSM-IV-TR criteria.

Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision (DSM-IV-TR) criteria

• Both multiple motor and one or more vocal tics present at some time during the illness although not necessarily simultaneously.
• The occurrence of tics multiple times per day (usually in bouts), nearly every day or intermittently during a span of more than one year without a tic-free period of more than three consecutive months.
• The disturbance causes significant distress or impairment in social, occupational, or other important areas of functioning.
• Onset before age 18.
• The disturbance is not due to the direct physiological effects of a substance or a general medical condition.

Treatment team

Treatment of TS disorders requires a multidisciplinary approach. In addition to the patient's primary health care professionals, medical professionals involved in the care of patients with an MPS usually includes specialists in neurology, psychiatry, psychology, social work, genetics, and education. Tourette syndrome support groups may help families in coping with this condition.

Treatment

There is no cure for TS. Management of TS requires integration of behavioral, psychological and sometimes pharmacologic (medication) therapies. Occupational therapy may also be indicated for TS patients. The decision to treat an individual case of TS depends on the degree to which the symptoms interfere with that person's ability to function. Treatment is crucial in helping the affected child avoid depression , social isolation, and strained family relationships. In general, pharamacologic therapy is reserved for patients with severe symptoms. Education about the condition and reassurance are key components of any treatment program.

Behavior therapy

Various types of behavior therapy may benefit patients with TS. Using a technique known as habit-reversal training, individuals with severe tics are taught how to substitute one tic for another that is more socially acceptable. Also, since stress can exacerbate tics, individuals with TS may find that relaxation techniques and biofeedback can help alleviate stress reactions and reduce tics. Behavior modification may be necessary for children with poor impulse control.

Psychological therapy

Psychological counseling may help individuals with TS to cope with the social and emotional problems that occur as a result of their symptoms. Depression and self-esteem problems are common among persons with TS. Counseling is especially important for children with TS as they approach adolescence, a time in which tics tend to get worse. Affected children and their parents may also benefit from family therapy. Severe or frequent tics and the presence of co-occurring problems such as ADHD and OCD can negatively impact quality of life for people with TS, especially if family support is inadequate. Parents may have difficulty accepting a diagnosis and in deciding which how best to handle unwanted behaviors. The goal of family therapy is to educate family members about the disorder and to find ways to handle those symptoms that have a negative impact on family members.

Pharmacologic therapy

No single or combination (more than one) drug therapy offers complete cessation of symptoms without adverse effects.

Pharmacologic treatment of TS (alone, without OCD or ADHD) usually begins with a trial of clonidine. If clonidine is unsuccessful, treatment moves to one of the dopamine receptor antagonists. Haloperidol, a dopamine receptor antagonist, has been the main drug used in TS treatment since the 1960s. It has been reported that over 80% of patients show improvement of tics with this therapy. A similar drug known as pimozide has also been used as an anti-tic drug since the 1980s. Due to adverse effects associated with haloperidol and pimozide, other dopamine receptor antagonists, including risperi-done, sulpiride (not available in North America as of 2003), and olanzipine have gradually displaced haloperidol and pimozide as the main drug therapies for tics. Newer drugs, ziprasidone and quetiapine, may also be effective; as of 2003, evidence regarding their efficacy was preliminary. For those individuals who are unable to tolerate the above medications, treatment with a related medication, tetrabenazine, may be recommended. Drug therapy with a dopamine agonist may be attempted if none of the above drugs are effective. There are preliminary reports of positive therapeutic effects with other treatments including nicotine, tetrahydrocannbinol (marijuana), baclofen, and botulinum toxin injection yet confirmation of safety and efficacy of these treatments awaits further study.

Clomipramine or one of the selective serotonin uptake inhibitors (SSRIs) are the first choice for treatment of OCD. Examples of SSRI's in use for OCD treatment include fluoxetine, fluvoxamine, sertraline, paroxetine, and citalopram. For those TS patients with OCD who do not respond to SSRIs alone, addition of a dopamine receptor antagonist such as haloperidol, pimozide, risperidine, or olanzipine may be indicated. New therapies under investigation for the treatment of OCD as of 2003 included neurosurgery, deep brain stimulation (DBS), transcranial magnetic stimulation (TMS), and injection with botulinum toxin.

Methylphenidate and dextroamphetamine, medications known as psychostimulants, have been shown to be safe and effective in the treatment of ADHD in TS patients. There has been controversy over the use of psychostimulants to treat ADHD due to concerns about worsening of tics. Results from a randomized, placebo-controlled clinical trial reported in 2002 indicated that methylphenidate and another drug, clonidine, do not adversely affect tics. The researchers also found that a combination of the drugs is more effective than either drug alone.

Recovery and rehabilitation

Children with TS may require academic and occupational interventions. For some TS students, modifying the school environment can help to minimize stress. For the student with vocal tics, untimed exams in a private room and permission to leave the classroom when tics become problematic may help. Children with auditory processing difficulties and fine motor skill problems may benefit from occupational therapy. For example, the use of tape recorders, typewriters, or computers may be recommended to help with reading and writing. Occupational therapy can also help with poor handwriting, a common problem in children with TS. Some students with TS may be eligible for an Individual Education Plan (IEP). An IEP provides a framework from which administrators, teachers, and parents can meet the educational needs of a child with TS. Depending upon severity of TS symptoms and the degree of learning difficulties, some children with TS may be best served by special education classes or a private educational setting.

Clinical trials

As of December 2003, thirteen clinical trials were actively recruiting patients with Tourette syndrome. The National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Maryland, were sponsoring the following trials. Information on these trials can be found at <http://www.clinicaltrials.gov> or by contacting the Patient Recruitment and Public Liaison Office at 1-800-411-1222 or at [email protected].

• Magnetic Resonance Spectroscopy (MRS) to Evaluate Tourette's Syndrome. This study will use magnetic resonance imaging (MRI ) and magnetic resonance spectroscopy (MRS) of the brain to try to gain a better understanding of the disease process in Tourette's syndrome. More information can be found at the National Institutes of Health (NIH) web link, <http://clinicalstudies.info.nih.gov/detail/A_2002-N-0128.html>.
• Study of Tics in Patients with Tourette's Syndrome and Chronic Motor Tic Disorder. This study will investigate which areas of the brain are primarily involved in and responsible for tics in patients with Tourette's syndrome and chronic motor tic disorder. More information can be found at the National Institutes of Health (NIH) web link, <http://clinicalstudies.info.nih.gov/detail/A_2002-N-0175.html>.
• Study of GABA-A receptors in the Generation of Tics in Patients with Tourette's Syndrome. This study will investigate how the brain generates tics in patients with Tourette's syndrome and which areas of the brain are primarily affected. More information can be found at the National Institutes of Health (NIH) web link, <http://clinicalstudies.info.nih.gov/detail/A_2002-N-0181.html>
• Brain Dynamics Involved in Generating Tics and Controlling Voluntary Movement. This study will use electroencephalography (EEG) and electromyography (EMG) to examine how the brain generates tics and controls voluntary movement in patients with Tourette's syndrome and chronic motor tic disorder. More information can be found at the National Institutes of Health (NIH) web link, <http://clinicalstudies.info.nih.gov/detail/A_2003-N-0126.html>.
• Brain Activation in Vocal and Motor Tics. This study will investigate the brain areas that are activated by vocal and motor tics in patients with Tourette's syndrome and other tic disorders. More information can be found at the National Institutes of Health (NIH) web link, <http://clinicalstudies.info.nih.gov/detail/A_2002-N-0027.html>.

The following trials were being sponsored by the National Center for Research Resources (NCRR) and coordinated by the Yale University School of Medicine in New Haven, Connecticut. Information on these trials can be found at <http://www.clinicaltrials.gov> or by contacting the study chair, James F. Leckman at 203-785-7971.

• Study of the Neurobiology of Tourette Syndrome and Related Disorders. This study will investigate the patho-biology of Tourette syndrome and related disorders by measuring various compounds of interest in cerebrospinal fluid, plasma, and urine of patients with Tourette syndrome, obsessive compulsive disorder, and/or chronic tics; determine the pattern of familial aggregation of Tourette syndrome and obsessive compulsive disorder by systematic assessment of all first-degree family members of patients selected for cerebrospinal fluid studies; and establish the neurochemical and neuropeptide profile associated with the range of expression of the putative Tourette gene expression in adult and adolescent patients.
• Developmental Phenomenology of Obsessive Compulsive Disorder and Tourette Syndrome in Children and Adolescents. This study will characterize the natural history, associated features, and severity of symptoms of obsessive compulsive disorder and Tourette syndrome in children and adolescents, and identify factors that influence the clinical course and prognosis of these patients.

The National Institute of Mental Health (NIMH) in Bethesda, Maryland, was sponsoring the following trials. Information on these trials can be found at <http://www.clinicaltrials.gov>.

• Brain Tissue Collection for Neuropathological Studies. This study will collect and study the brain tissue of deceased individuals to learn more about the nervous system and mental disorders. More information can be found at the National Institutes of Health (NIH) web page for this study at <http://clinicalstudies.info.nih.gov/detail/A_1990-M-0142.html> or by contacting Joel E. Kleinman, MD at (301) 402-7909 or [email protected].
• Evaluation and Follow-up of Individuals with Obsessive-Compulsive Disorder and Related Conditions. This study will aim to better understand the long-term progress of people with obsessive-compulsive disorder (OCD) and related conditions such as anorexia nervosa, Tourette syndrome, and trichotillomania. More information can be found at the National Institutes of Health (NIH) web page for this study at <http://clinicalstudies.info.nih.gov/detail/A_2000-M-0067.html> or by contacting the patient recruitment and public liaison office at (800) 411-1222 or [email protected].
• Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders, and Healthy Children. This study will use MRIs to assess brain anatomy and function in normal volunteers and patients with a variety of childhood onset psychiatric disorders. More information can be found at the National Institutes of Health (NIH) web page for this study at <http://clinicalstudies.info.nih.gov/detail/A_1989-M-0006.html> or by contacting the patient recruitment and public liaison office at (800) 411-1222 or [email protected].
• Treatment of Obsessive-Compulsive Disorder. This study aims to find the best treatment for TS-spectrum obsessive-compulsive disorder (OCD), which includes symptoms of TS, e.g., repeated and involuntary body movements (tics). More information can be found by contacting the University of Florida at [email protected]; the study chair, Wayne Goodman, MD at (877) 788-3994 or [email protected]; or Candy Hill at (352) 392-3681 or [email protected].
• Genetics of Obsessive-Compulsive Disorder. This study to identify genes that affect susceptibility to obsessive-compulsive disorder (OCD). More information can be found at the National Institutes of Health (NIH) web page for this study at <http://clinicalstudies.info.nih.gov/detail/A_1996-M-0124.html> or by contacting Diane M. Kazuba at (301) 496-8977 or [email protected]. nih.gov.
• Central Mechanisms in Speech Motor Control Studied with H215O PET. This study will use radioactive water (H215O) and Positron Emission Tomography (PET scan) to measure blood flow to different areas of the brain in order to better understand the mechanisms involved in speech motor control, and is sponsored by the National Institute on Deafness and Other Communication Disorders (NIDCD) in Bethesda, Maryland. More information can be found at the National Institutes of Health (NIH) web page for this study at <http://clinical studies.info.nih.gov/detail/A_1992-DC-0178.html> or by contacting the patient recruitment and public liaison office at 1-800-411-1222 or [email protected].

Prognosis

The majority of cases of TS are mild and as such they do not require medical attention. Most affected individuals show improvement of symptoms in late adolescence or early adulthood and up to one-third of people will experience remission of tic in adult years. In fewer than 10% of patients, tics become more severe in adulthood. TS is not a degenerative disease and patients can anticipate a normal life span.

Special concerns

All students with TS need an educational environment that is supportive and flexible. Children with TS frequently have problems in school because they are teased by peers and misunderstood by teachers. It is important to educate the students, the teachers, and other school personnel who come in contact with the child with TS about the disorder.

Resources

BOOKS

American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th edition, text revision (DSM-IV-TR). Washington, DC: American Psychiatric Association, 2000.

Comings, D. E. Search for the Tourette Syndrome and Human Behavior Genes. Duarte, CA: Hope Press, 1996.

Kurlan, R. Handbook of Tourette Syndrome and Related Tic and Behavioral Disorders. Rochester, NY: Marcel Dekker, 2003.

Leckman, J. F. and D. J. Cohen Tourette's Syndrome—Tics, Obsessions, Compulsions: Developmental Psychopathology and Clinical Care, reprint ed. John Wiley and Sons, 2001.

Robertson, M. M., and S. Baron-Cohen. Tourette Syndrome: The Facts, 1st ed. London: Oxford Press, 1998.

PERIODICALS

Jankovic, J. "Tourette's Syndrome." New England Journal of Medicine 345 (October 2001): 1184–1192.

Leckman, J. F. "Tourette's Syndrome." Lancet 360 (November 2002): 1577–1586.

Miguel, E. C., R. G. Shavitt, Y. A. Ferraro, S. A. Brotto, and J. B. Diniz. "How to Treat OCD in Patients with Tourette Syndrome." Journal of Psychosomatic Research 55 (July 2003): 49–57.

Pauls, D.L. "An Update on the Genetics of Gilles de la Tourette Syndrome." Journal of Psychosomatic Research 55 (July 2003): 7–12.

Robertson, M. M. "Diagnosing Tourette Syndrome: Is It a Common Disorder." Journal of Psychosomatic Research 55 (July 2003): 3–6.

Sandor, P. "Pharmacologic Management of Tics in Patients with TS." Journal of Psychosomatic Research 55 (July 2003): 419–48.

WEBSITES

The National Institute of Neurological Disorders and Stroke (NINDS). Tourette Syndrome Information Page. <http://www.ninds.nih.gov/health_and_medical/disorders/tourette.htm>.

Tourette's Disorder Home Page. <http://www.tourettes-disorder.com//home.html>.

ORGANIZATIONS

National Tourette Syndrome Association, Inc. 42-40 Bell Boulevard, Bayside, New York 11361-2820. (718) 224-2999 or (888) 4-TOURET (486-8738); Fax: (718) 279-9596. [email protected]. <http://www.tsa-usa.org>.

Tourette Syndrome Foundation of Canada. #206, 194 Jarvis Street, Toronto, Ontario M5B 2B7, Canada. (416) 861-8398 or (800) 361-3120; Fax: (416) 861-2472. [email protected]. <http://www.tourette.ca/index.shtml>.

Dawn J. Cardeiro, MS, CGC

Tourette Syndrome

Meet Pete

What Is Tourette Syndrome?

What Causes Tourette Syndrome?

How Can I Tell If Someone I Know Has Tourette Syndrome?

Related Conditions

How Is Tourette Syndrome Treated?

Medications for Tourette Syndrome

Living with Tourette Syndrome

Resources

Tourette (too-RET) syndrome (TS) is a genetically* transmitted disorder of the central nervous system* associated with several kinds of motor* tics and at least one vocal tic*.

* genetically

means stemming from genes, the material in the body that helps determine a person’s characteristics, such as hair or eye color.

* central nervous system

refers to the brain and spinal cord, which coordinates the activities of the entire nervous system. The nervous system is made up of the nerve cells of the body, which communicate with each other to help regulate the functioning of the body.

* motor

relates to body movements.

* tics

are sudden, brain-activated “involuntary” movements (such as eye blinking or shoulder shrugging) or sounds (words or other sounds, such as sniffing, grunting, throat clearing, or even barking) that are repeated over and over in the same way.

KEYWORDS

for searching the Internet and other reference sources

Attention deficit hyperactivity disorder

Obsessive-compulsive disorder

Tics

Meet Pete

One day in the middle of a math test, Pete began to make loud sniffing noises repeatedly. Other than his periodic sniffing, his sixth grade classroom was very quiet. Mr. Carlson, Pete’s math teacher, put his finger to his lips, signaling Pete to be quiet. Pete imitated Mr. Carlson’s gesture, putting his own finger to his lips. He repeated the gesture several times and then stopped and began making the sniffing noises again. Pete was surprised by his own behavior. He knew that he should stop, but the more he tried to stop, the more he found that he could not.

Mr. Carlson, who always understood when Pete was late with his homework, was troubled by this new classroom behavior. Pete had had difficulty finishing homework assignments and had occasionally had trouble staying still in his seat, but he had never disrupted the class before. Mr. Carlson invited Pete out into the hallway and asked if Pete would prefer to take the math test by himself. Pete said that he would. Was Pete just trying to avoid taking the math test, Mr. Carlson wondered, or might he perhaps have TS?

What Is Tourette Syndrome?

Many people with symptoms like Pete’s have TS. Their tics tend to be most noticeable when they are feeling nervous, anxious (as Pete may have been during his exam), or tired. The tics tend to ease when people are focused and concentrating on something, and they are generally not evident at all when people are sleeping.

One of the many interesting features of TS is that the tics vary from person to person, in terms of the type of tic and its severity. They also may vary in the same person over time. After several months, one tic may go away and be replaced by another. It also may disappear completely. At some point in their childhood, up to one-fourth of all school-age children have simple tics, such as eye blinking, but they do not go on to have TS. Their tics simply disappear with time. Other children may experience more complex tics as time passes. Complex motor tics involve several coordinated muscle movements, such as twirling or hopping in place while walking. Complex vocal tics include babbling, echoing sounds, and babbling meaningless strings of words.

To say that a person has TS, the tics (which usually occur several times a day) must begin before a person turns 18, and they must last for more than a year. In addition, a person must have more than one motor tic and at least one vocal tic over that period of time. The tics may occur simultaneously or at different times. In rare cases, tics may involve movements that cause the person pain or injury; for example, tics that result in biting their lips or cheeks or even banging their heads. These very severe cases are the exception and not the rule in TS. More commonly, the tics involve harmless muscle movements or vocalizations, which are mild to begin with and lessen or in some cases disappear over time. The tics also may disappear for days, weeks, or years and then recur.

TS is much more common than was once believed. It is estimated that about 100,000 Americans have TS, or 1 in every 2,000 to 2,500 people. About three times that many people have other tic disorders, such as chronic* multiple tics or transient* tics. While Tourette syndrome involves a long-lasting problem with both motor and vocal tics, chronic multiple tics involve several tics that are either motor or vocal, but not both. Transient tic disorders may look like other tic disorders but are present for less than a year.

* chronic

means lasting for a long time or recurring often.

* transient

(TRAN-shent) means brief or producing effects for a short period of time.

What Causes Tourette Syndrome?

Until Gilles de la Tourette, a French physician, described in 1885 the group of odd and often changing tics we now associate with TS, people like Pete often were believed to be possessed by demons. Thanks to many advances in our understanding of how information is transmitted in the brain, we now know that TS is a neurological* disorder characterized by chemical changes in the brain. Although the basic cause of TS and other tic disorders is still unknown, we know that TS is an inherited condition, meaning that the likelihood of TS developing in a person is passed from parent to child.

* neurological

(nur-o-LAH-ji-kal) relates to the nervous system.

Genetics

One of the most interesting findings from studies of TS is that boys are three to four times more likely to show signs of TS than girls are. A parent with a gene for the syndrome has a one in two chance of passing it on to each child. The child who inherits the gene may show symptoms of TS or may not. In males who have the gene, there is a 99 percent chance that symptoms of the disorder will occur. In females with the gene, that likelihood is 70 percent, but girls with the gene appear to be more likely than boys with the gene to have symptoms of obsessive-compulsive disorder*, a condition that is believed to be linked genetically to TS.

* obsessive-compulsive disorder

is a condition that causes people to become trapped in a pattern of repeated, unwanted thoughts, called obsessions (ob-SESH-unz), and a pattern of repetitive behaviors, called compulsions (kom-PUL-shunz).

Neurotransmitters

New research suggests that there is an abnormality in the genes affecting the brain’s handling of and levels of certain brain chemicals known as neurotransmitters. Neurotransmitters carry signals from one nerve cell to another. The transmission of these signals is involved in attention and memory, movement, and moods, such as happiness, sadness, or anxiety (ang-ZY-e-tee). The neurotransmitters that may play a part in TS include dopamine*, serotonin*, and norepinephrine*. In this regard, TS is similar to other neurological conditions, such as Parkinson disease*, which are now known to be linked to specific neurotransmitter imbalances in the brain.

* dopamine

(DOPE-a-meen) is a brain chemical that is involved in the control of movement.

* serotonin

(ser-o-TOE-nin) is a chemical associated with emotions, particularly feelings of well-being.

* norepinephrine

(NOR-e-pi-nefrin) is a body chemical that can increase the arousal response, heart rate, and blood pressure.

* Parkinson disease

is a disorder of the central nervous system that causes trembling or rigidity of muscles, uncoordinated movements, and poor balance.

How Can I Tell If Someone I Know Has Tourette Syndrome?

The short answer is that it is not always easy to spot TS. The best person to make a diagnosis of TS is a doctor who has known the person for a long time and also has gathered a detailed family medical history. Many children may have one or more simple tics, such as head turning or eye blinking, at some point in their childhood. In most cases, these tics will disappear. Besides looking for a pattern of tics that continue for a least a year, the doctor may make use of several tests, such as the Yale Global Tic Severity Scale and the Hopkins Motor/Vocal Tic Scale.

Because tics come and go, it is not unusual for a child to go to the doctor and be tic-free throughout the entire visit. Just as children may find it difficult to suppress tics at times when they may want to, they also cannot always produce tics on command. Tics tend to be more noticeable in the presence of family members and friends and less noticeable with strangers. It is important for the doctor evaluating a person for possible tics to look for related conditions and to consider the impact of the tics and related conditions on the child’s ability to function in school and with friends and family.

The Tic Code (1998) stars Christopher Marquette as a boy with Tourette syndrome who dreams of becoming a jazz pianist. While playing at a local music club, he befriends a saxophone player (Gregory Hines) who also has Tourette syndrome. Photofest

Related Conditions

It is not uncommon for people with TS to have obsessive-compulsive disorder (OCD) as well. In this disorder, a person may have recurrent, anxiety-provoking thoughts (for example, that a person forgot to lock the door when leaving home) or behavior (for example, repeatedly checking to make sure the door is locked). In the case of both TS and OCD, the person may feel unable to resist the activity, much as a person may feel unable to resist a sneeze. An important difference is that the types of behavior (compulsions) seen in OCD are typically quite complex and are voluntary, even though they may be hard to resist (like checking the lock a number of times), while those associated with TS have a more involuntary, uncontrolled quality. Even though people with TS may be able to temporarily suppress a tic, tics occur involuntarily (like blinking, sneezing, or coughing).

There are two other conditions that are commonly associated with TS: attention deficit hyperactivity disorder (ADHD) and learning disability. ADHD is a disorder associated with physical restlessness, inattention, and poor control of impulses. People with ADHD find it very difficult to organize tasks and activities, and, as a result, they are prone to move impulsively from one unfinished task to another. Physical signs and symptoms of ADHD in school-age children include squirming in their seats, fidgeting, and shaking their feet or legs excessively. In adolescents, ADHD may take the form of getting up from the table during meals, difficulty in concentrating and finishing homework, or speaking out impulsively.

Learning disabilities, such as problems in reading, writing, or math, may interfere with a person’s success in school despite good intelligence. These disabilities are diagnosed when there is a difference between children’s levels of achievement on academic tests and their general levels of intelligence.

How Is Tourette Syndrome Treated?

While there is no known cure for TS at this time, there are treatments that can help ease the embarrassment and discomfort associated with the condition as well as medications that can reduce the frequency and severity of the tics. Perhaps most important of all is understanding, self-understanding as well as understanding on the part of teachers, family members, and friends. It is important and helpful for all those who are involved with a person who has TS to accept that TS is a medical condition like epilepsy* or cerebral palsy* or any other neurological condition that causes involuntary responses or movements. The types of behavior associated with TS cannot be controlled, much as they might at times look or seem intentional. These types of behavior do not reflect a person’s intelligence, academic ability, or potential to lead an otherwise happy and productive life.

* epilepsy

is a condition of the central nervous system characterized by recurrent seizures, or violent spasms, that can affect a person’s movements and awareness of the environment.

* cerebral palsy

(se-RE-bral PALzee) is a group of conditions, all of which affect a person’s ability to move. They are usually caused by injury to the brain before or soon after birth.

In addition to counseling to come to terms with a diagnosis of TS, there are other measures that may help:

• Educational alternatives: Tutoring, smaller classrooms, private study areas, and alternative forms of testing (for example, oral exams for students who have difficulty writing) may help the child or teen with TS and related learning or attention disorders. In configuring the proper school environment, it is key to recognize that most children with TS have normal intelligence, but they may need special arrangements to achieve their full potential without disrupting other students.
• Relaxation and biofeedback techniques: Relaxation and biofeedback can help people with TS better manage stress that can increase the severity of the tics. With relaxation techniques, people learn to make various muscles in their bodies less tense and rigid and possibly decrease the frequency of tics. Biofeedback teaches a person to pay more attention to involuntary movements of the body, with the aim of bringing these movements under more conscious control. It is possible that relaxation and biofeedback help reduce the urge to have tics by learning to tolerate and control some of the inner tension that precedes tic behavior.
• Behavior modification: Behavior modification or habit reversal procedures also can be used to help “extinguish” or lessen disruptive behavior. Just as people with a fear of snakes can learn, with repeated exposures to snakes, to overcome their fear, people with TS can use exposure techniques to help desensitize themselves to the situations that are likely to bring about the tension that may produce tics.

Medications for Tourette Syndrome

Many people with TS may benefit from medications, particularly people with very severe and disruptive tics. Medications act on the neurotransmitters in the brain to help lessen the symptoms. Just as the tics themselves vary from person to person, the most effective medication for different people will vary, depending on other conditions they may have and how well they can tolerate the effects of a particular medication.

The medicine that has been used the longest to help minimize tics is haloperidol (sold under the brand name Haldol), a dopamine-blocking agent. The downside of halperidol and other similar dopamine-blocking agents is a possibly serious side effect called “tardive dyskinesia” (TARdiv dis-ki-NEE-zhah). Tardive dyskinesia is a neurological condition in which there are slow, uncontrollable mouth movements and drooling. Overall mental “dulling” is also common. There are other medications now available that may have fewer and less serious side effects. For example, clonidine (sold under the brand name Catapres) has proven to be effective in limiting tics and also in improving some of the attention problems of people with TS.

In addition to medications for the tics themselves, there are medications that have been used to treat related conditions, such as OCD and ADHD. As with any medications, those for TS are prescribed only after the diagnosis is confirmed. A doctor monitors a patient carefully for side effects. There may sometimes be problems with medications given to people who have more than one condition. For example, some medications that are used to treat children with ADHD can increase the severity of the tics seen in TS.

Living with Tourette Syndrome

TS is not a degenerative* condition that causes more damage over time. With a supportive environment and self-acceptance, the child with TS can go on to live a normal, productive life that includes not only school and work successes but also healthy friendships and relationships. In all walks of life, from sports to the arts, there are people with TS who have excelled at the activities they love. Jim Eisenreich, once a star hitter and outfielder for the Philadelphia Phillies, helped his team reach the 1993 World Series. For Eisenreich, who at one time walked off the field after twitching publicly in front of thousands of fans, the journey from shame to diagnosis, treatment, and self-acceptance paid off.

* degenerative

means progressively worsening or becoming more impaired.

See also

Attention Deficit Hyperactivity Disorder

Learning Disabilities

Obsessive-Compulsive Disorder

Tic Disorders

Resources

Book

Rubio, Gwyn Hyman. Icy Sparks. New York: Viking, 2001. A novel about a 10-year-old girl who tries to conceal her tics and the unhappiness they cause her.

Organizations

Nemours Center for Children’s Health Media, Alfred I. duPont Hospital for Children, Wilmington, DE. Its website has articles about Tourette syndrome. http://www.KidsHealth.org

National Institute of Neurological Disorders and Stoke, NIH Neurological Institute, P.O. Box 5801, Bethesda, MD 20824. This organization is a leading center for biomedical research and information. Telephone 800–352–9424 http://www.ninds.nih.gov

Tourette Syndrome Association, Inc., 42-40 Bell Boulevard, Bayside, NY 11361-2820. This nonprofit organization for people with TS, family and friends, and health professionals funds research, provides services to patients and their families, and offers various publications and fact sheets. Telephone 718-224-0717 or 800-4-TOURET http://www.tsa-usa.org

Tourette Syndrome

Definition

Tourette syndrome (TS) is an inherited disorder of the nervous system, characterized by a variable expression of unwanted movements and noises (tics).

Description

The first references in the literature to what might today be classified as Tourette syndrome largely describe individuals who were wrongly believed to be possessed by the devil. In 1885 Gilles de la Tourette, a French neurologist, provided the first formal description of this syndrome, which he described as an inherited neurological condition characterized by motor and vocal tics.

Although vocal and motor tics are the hallmark of Tourette syndrome, such other symptoms as the expression of socially inappropriate comments or behaviors, obsessive compulsive disorder, attention deficit disorder, self-injuring behavior, depression, and anxiety also appear to be associated with Tourette syndrome. Most research suggests that Tourette syndrome is an autosomal dominant disorder, although a gene responsible for Tourette syndrome has not yet been discovered.

Tourette syndrome is found in all populations and all ethnic groups, but is three to four times more common in males than females and is more common in children than adults. The exact frequency of Tourette syndrome is unknown, but estimates range from 0.05% to 3%.

Causes and symptoms

The cause of Tourette syndrome is unknown, although some studies suggest that the tics in Tourette syndrome are caused by an increased amount of a neurotransmitter called dopamine. A neurotransmitter is a chemical found in the brain that helps to transmit information from one brain cell to another. Other studies suggest that the defect in Tourette syndrome involves another neurotransmitter called serotonin; or involves other chemicals required for normal functioning of the brain.

Most studies suggest that Tourette syndrome is an autosomal dominant disorder with decreased penetrance, although this hypothesis has not been proven and may not be true in all families. An autosomal dominant disorder results from a change in one copy of a pair of genes. Individuals with an autosomal dominant disorder have a 50% chance of passing on the changed gene to their children. Decreased penetrance means that not all people who inherit the changed gene will develop symptoms. There is some evidence that females who inherit the Tourette syndrome gene have a 70% chance of exhibiting symptoms and males have a 99% chance of having symptoms. It has been suggested that other genetic and environmental factors may play a role in the development of symptoms in people who inherit the changed gene, but none have been discovered. Some researchers believe that Tourette syndrome has different causes in different individuals or is caused by changes in more than one gene, although these theories are less substantiated. Further research is needed to establish the cause of Tourette syndrome.

Motor and vocal tics

The principal symptoms of Tourette syndrome include simple and complex motor and vocal tics. Simple motor tics are characterized by brief muscle contractions of one or more limited muscle groups. An eye twitch is an example of a simple motor tic. Complex motor tics tend to appear more complicated and purposeful than simple tics, and involve coordinated contractions of several muscle groups. Some examples of complex motor tics include the act of hitting oneself and jumping. Copropraxia, the involuntary display of unacceptable/obscene gestures; and echopraxia, the imitation of the movement of another individual, are other examples of complex motor tics.

Vocal tics are actually manifestations of motor tics that involve the muscles required for vocalization. Simple vocal tics include stuttering, stammering, abnormal emphasis of part of a word or phrase, and inarticulate noises such as throat clearing, grunts, and high-pitched sounds. Complex vocal tics typically involve the involuntary expression of words. Perhaps the most striking example of this is coprolalia, the involuntary expression of obscene words or phrases, which occurs in fewer than one-third of people with Tourette syndrome. The involuntary echoing of the last word, phrase, sentence or sound vocalized by oneself (phalilalia) or of another person or sound in the environment (echolalia) are also classified as complex tics.

The type, frequency, and severity of tics exhibited varies tremendously between individuals with Tourette syndrome. Tourette syndrome has a variable age of onset and tics can start anytime between infancy and age 18. Initial symptoms usually occur before the early teens; the mean age of onset for both males and females is approximately seven years of age. Most individuals with symptoms initially experience simple muscle tics involving the eyes and the head. These symptoms can progress to tics involving the upper torso, neck, arms, hands, and occasionally the legs and feet. Complex motor tics are usually the latest-onset muscle tics. Vocal tics usually have a later onset then motor tics. In some rare cases, people with Tourette syndrome suddenly present with multiple, severe, or bizarre symptoms.

Not only is there extreme variability in clinical symptoms between individuals with Tourette syndrome, but individuals commonly experience a variability in type, frequency, and severity of symptoms over the course of their lifetime. Adolescents with Tourette syndrome often experience unpredictable and variable symptoms, which may be related to fluctuating hormone levels and decreased compliance in taking medications. Adults often experience a decrease in symptoms or a complete end to symptoms.

A number of factors appear to affect the severity and frequency of tics. Stress appears to increase the frequency and severity of tics, while concentration on another part of the body that is not involved in a tic can result in the temporary alleviation of symptoms. Relaxation, following attempts to suppress the occurrence of tics, may result in an increased frequency of tics. An increased frequency and severity of tics can also result from exposure to such drugs as steroids, cocaine, amphetamines, and caffeine. Hormonal changes such as those that occur prior to the menstrual cycle can also increase the severity of symptoms.

Other associated symptoms

People with Tourette syndrome are more likely to exhibit non-obscene, socially inappropriate behaviors such as expressing insulting or socially unacceptable comments or socially unacceptable actions. It is not known whether these symptoms stem from a more general dysfunction of impulse control that might be part of Tourette syndrome.

Tourette syndrome appears to also be associated with attention deficit disorder (ADD). ADD is a disorder characterized by a short attention span and impulsivity, and in some cases hyperactivity. Researchers have found that 21-90% of individuals with Tourette syndrome also exhibit symptoms of ADD, whereas 2-15% of the general population exhibit symptoms of ADD.

People with Tourette syndrome are also at higher risk for having symptoms of obsessive-compulsive disorder (OCD). OCD is a disorder characterized by persistent, intrusive, and senseless thoughts (obsessions) or compulsions to perform repetitive behaviors that interfere with normal functioning. A person with OCD, for example, may be obsessed with germs and may counteract this obsession with continual hand washing. Symptoms of OCD are present in 1.9-3% of the general population, whereas 28-50% of people with Tourette syndrome have symptoms of OCD.

Self-injurious behavior (SIB) is also seen more frequently in those with Tourette syndrome. Approximately 34-53% of individuals with Tourette syndrome exhibit some form of self-injuring behavior. The SIB is often related to OCD but can also occur in those with Tourette syndrome who do not have OCD.

Symptoms of anxiety and depression are also found more commonly in people with Tourette syndrome. It is not clear, however, whether these symptoms are symptoms of Tourette syndrome or occur as a result of having to deal with the symptoms of moderate to severe Tourette syndrome.

People with Tourette syndrome may also be at increased risk for having learning disabilities and personality disorders ; and may be more predisposed to such behaviors as aggression, antisocial behaviors, severe temper outbursts, and inappropriate sexual behavior. Further controlled studies need to be performed, however, to ascertain whether these behaviors are symptoms of Tourette syndrome.

Diagnosis

Tourette syndrome cannot be diagnosed through a blood test. The diagnosis is made through observation and interview of the patient and discussions with other family members. The diagnosis, of Tourette syndrome is complicated by a variety of factors. The extreme range of symptoms of this disorder makes it difficult to differentiate Tourette syndrome from other disorders with similar symptoms. Diagnosis is further complicated by the fact that some tics appear to be within the range of normal behavior. For example an individual who only exhibits such tics as throat clearing and sniffing may be misdiagnosed with a medical problem such as allergies. In addition, such bizarre and complex tics as coprolalia may be mistaken for psychotic or "bad" behavior. Diagnosis is also confounded by individuals who attempt to control tics in public and in front of health care professionals and deny the existence of symptoms. Although there is disagreement over what criteria should be used to diagnosis Tourette syndrome, one aid in the diagnosis is the DSMMD (DSM-IV). The DSM-IV outlines suggested diagnostic criteria for a variety of conditions including Tourette syndrome.

DSM-IV criteria

• presence of both motor and vocal tics at some time during the course of the illness
• the occurrence of multiple tics nearly every day through a period of more than one year, without a remission of tics for a period of greater than three consecutive months
• the symptoms cause distress or impairment in functioning
• age of onset of prior to 18 years of age
• the symptoms are not due to medications or drugs and are not related to another medical condition

Some physicians critique the DSM-IV criteria, arguing that they do not include the full range of behaviors and symptoms seen in Tourette syndrome. Others criticize the criteria since they limit the diagnosis to those who experience a significant impairment, which may not be true for individuals with milder symptoms. For this reason many physicians use their clinical judgment as well as the DSM-IV criteria as a guide to diagnosing Tourette syndrome.

Treatment

There is no cure for Tourette syndrome. Treatment involves the control of symptoms through educational and psychological interventions and/or medications. The treatment and management of Tourette syndrome varies from patient to patient and should focus on the alleviation of the symptoms that are most bothersome to the patient or that cause the most interference with daily functioning.

Psychological and educational interventions

Psychological treatments such as counseling are not generally useful for the treatment of tics but can be beneficial in the treatment of such associated symptoms as obsessive-compulsive behavior and attention deficit disorder. Counseling may also help individuals to cope better with the symptoms of this disorder and to have more positive social interactions. Psychological interventions may also help people cope better with stressors that can normally be triggers for tics and negative behaviors. Relaxation therapies may, however, increase the occurrence of tics. The education of family members, teachers, and peers about Tourette syndrome can be helpful and may help to foster acceptance and prevent social isolation.

Medications

Many people with mild symptoms of Tourette syndrome never require medications. Those with severe symptoms may require medications for all or part of their lifetime. The most effective treatment of tics associated with Tourette syndrome involves the use of drugs such as haloperidol, pimozide, sulpiride, and tiapride, which decrease the amount of dopamine in the body. Unfortunately, the incidence of side effects, even at low dosages, is quite high. The short-term side effects can include sedation, dysphoria, weight gain, movement abnormalities, depression, and poor school performance. Long-term side effects can include phobias, memory difficulties, and personality changes. These drugs are therefore better candidates for short-term rather than long-term therapy.

Tourette syndrome can also be treated with such other drugs as clonidine, clonazepam, and risperidone, but the efficacy of these treatments is unknown. In many cases, treatment of such as associated conditions such as ADD and OCD is often more of a concern than the tics themselves. Clonidine used in conjunction with such stimulants as Ritalin may be useful for treating people with Tourette syndrome who also have symptoms of ADD. Stimulants should be used with caution in individuals with Tourette syndrome since they can sometimes increase the frequency and severity of tics. OCD symptoms in those with Tourette syndrome are often treated with such drugs as Prozac, Luvox, Paxil, and Zoloft.

In many cases the treatment of Tourette syndrome with medications can be discontinued after adolescence. Trials should be performed through the gradual tapering off of medications and should always be done under a doctor's supervision.

Prognosis

The prognosis for Tourette syndrome in individuals without associated psychological conditions is often quite good, and only approximately 10% of Tourette syndrome individuals experience severe tic symptoms. Approximately 30% of people with Tourette syndrome will experience a decrease in the frequency and severity of tics, and another 30-40% will experience a complete end of symptoms by late adolescence. The other 30-40% will continue to exhibit moderate to severe symptoms in adulthood. There does not appear to be a definite correlation between the type, frequency, and severity of symptoms and the eventual prognosis. Patients with severe tics may experience social difficulties and may isolate themselves from others in fear of shocking and embarrassing them. People with Tourette syndrome who have such other symptoms as obsessive compulsive disorder, attention deficit disorder, and self-injurious behavior usually have a poorer prognosis.

KEY TERMS

Attention deficit disorder (ADD)— Disorder characterized by a short attention span, impulsivity, and in some cases hyperactivity.

Autosomal dominant— A pattern of genetic inheritance in which only one abnormal gene is needed to display the trait or disease.

Coprolalia— The involuntary expression of obscene words or phrases.

Copropraxia— The involuntary display of unacceptable/obscene gestures.

Decreased penetrance— Individuals who inherit a changed disease gene but do not develop symptoms.

Dysphoria— Feelings of anxiety, restlessness, and dissatisfaction.

Echolalia— Involuntary echoing of the last word, phrase, or sentence spoken by someone else or sound in the environment.

Echopraxia— The imitation of the movement of another individual.

Neurotransmitter— Chemical in the brain that transmits information from one nerve cell to another.

Obsessive compulsive disorder (OCD)— Disorder characterized by persistent, intrusive, and senseless thoughts (obsessions) or compulsions to perform repetitive behaviors that interfere with normal functioning.

Phalilalia— Involuntary echoing of the last word, phrase, sentence, or sound vocalized by oneself.

Tic— Brief and intermittent involuntary movement or sound.

Resources

BOOKS

Leckman, James, and Donald Cohen. Tourette's Syndrome: Tics, Obsessions, Compulsions: Development, Psychopathology and Clinical Care. New York: John Wiley & Sons, 1999.

PERIODICALS

Robertson, Mary. "Tourette Syndrome, Associated Conditionsand the Complexities of Treatment." Brain 123 (2000): 425-462.

ORGANIZATIONS

National Institute of Neurological Disorders and Stroke. 31 Center Drive, MSC 2540, Bldg. 31, Room 8806, Bethesda, MD 20814. (301) 496-5751 or (800) 352-9424. 〈http://www.ninds.nih.gov〉.

National Tourette Syndrome Association, Inc. 42-40 Bell Blvd., Bayside, NY 11361-2820. (718) 224-2999. Fax: (718) 279-9596. [email protected].

Tourette Syndrome Foundation of Canada. 194 Jarvis Street, #206, Toronto, ONT M5B 2B7. Canada (800) 361-3120. [email protected]. 〈http://www.tourette.ca〉.

OTHER

"About Tourette Syndrome." Tourette Help. 〈http://www.tourettehelp.com/pages/patient/about.html〉.

"Tourette's Disorder." Internet Mental Health. 〈http://www.mentalhealth.com/fr20.html〉.

Tourette syndrome

Definition

Tourette syndrome (TS) is an inherited disorder of the nervous system, characterized by a variable expression of unwanted movements and noises (tics).

Description

The first references in the literature to what might today be classified as Tourette syndrome largely described individuals who were wrongly believed to be possessed by the devil. In 1885, Gilles de la Tourette, a French neurologist, provided the first formal description of this syndrome. He described the disorder as an inherited neurological condition characterized by motor and vocal tics.

Although vocal and motor tics are the hallmark of Tourette syndrome, other symptoms such as the expression of socially inappropriate comments or behaviors, obsessive compulsive disorder, attention deficit disorder, self injuring behavior, depression , and anxiety also appear to be associated with Tourette syndrome. Most research suggests that Tourette syndrome is an inherited disorder, although a gene responsible for Tourette syndrome has not yet been discovered.

Genetic profile

The cause of Tourette syndrome is unknown although some studies suggest that the tics associated with Tourette syndrome are caused by an increased amount of a neurotransmitter called dopamine. A neurotransmitter is a chemical found in the brain that helps to transmit information from one brain cell to another. Other studies suggest that the defect in Tourette syndrome involves another neurotransmitter called serotonin, or involves other chemicals required for normal functioning of the brain.

It is clear that genetic factors are involved in the occurrence of Tourette syndrome because studies of identical twins (twins who share all the same genes) show that about 85% of the time that one is affected, the other is also affected. One theory is that Tourette syndrome is an autosomal dominant disorder with decreased penetrance. This theory has not been proven and may not be true in all families. An autosomal dominant disorder results from a change in one copy of a pair of genes. Individuals with an autosomal dominant disorder have a 50% chance of passing on the changed gene to their children. Decreased penetrance means that not all people who inherit the changed gene will develop symptoms. There is some evidence that females who inherit the Tourette syndrome gene have a 70% chance of exhibiting symptoms and males have a 99% chance of having symptoms.

Other theories about the cause of Tourette syndrome include the presence of a single gene in combination with other genetic or environmental changes that cause the condition. Some studies have indicated that it is unlikely that there is one genetic change alone that is responsible for causing Tourette syndrome. It is possible that Tourette syndrome has different causes in different individuals. Linkage analysis has been performed by several researchers to identify genes that may be associated with Tourette syndrome. In linkage analysis, researchers determine if people with Tourette syndrome have more markers (identifiable DNA sequences) associated with particular genes in common than would be expected by chance. These studies have indicated several chromosomal locations of interest, including locations on chromosome 2, 4, 5, 7, 8, 10, 11, 13, 17, and 19. In addition, individuals with Tourette syndrome features from different families have been reported to have chromosomal rearrangements that involve chromosome breaks in chromosomes 2, 6, 8, 7, and 18q. The areas where the chromosome broke in these families are under further investigation. More research is needed to establish the cause of Tourette syndrome.

Researchers are also interested in determining if the sex of the parent passing on a particular genetic change for Tourette syndrome influences the occurrence or severity of symptoms. Researchers also want to determine how having a family history of Tourette syndrome in both parents affects the chance for and the severity of the condition in their children.

Demographics

Tourette syndrome is found in all populations and all ethnic groups, but is three to four times more common in males than females and is more common in children than adults. The exact frequency of Tourette syndrome is unknown, but estimates range from 1–10 in 1,000 children or adolescents.

Signs and symptoms

Motor and vocal tics

The principal symptoms of Tourette syndrome include simple and complex motor and vocal tics. Simple motor tics are characterized by brief muscle contractions of one or more limited muscle groups. An eye twitch is an example of a simple motor tic. Complex motor tics tend to appear more complicated and purposeful than simple tics and involve coordinated contractions of several muscle groups. Some examples of complex motor tics include the act of hitting oneself and jumping. Copropraxia, the involuntary display of unacceptable/obscene gestures, and echopraxia, the imitation of the movement of another individual, are other examples of complex motor tics.

Vocal tics are actually manifestations of motor tics that involve the muscles required for vocalization. Simple vocal tics include stuttering, stammering, abnormal emphasis of part of a word or phrase, and inarticulate noises such as throat clearing, grunts, and high-pitched sounds. Complex vocal tics typically involve the involuntary expression of words. Perhaps the most striking example of this is coprolalia, the involuntary expression of obscene words or phrases, which occurs in less than one-third of people with Tourette syndrome. The involuntary echoing of the last word, phrase, sentence, or sound vocalized by oneself (phalilalia) or of another person or sound in the environment (echolalia) are also classified as complex tics.

The type, frequency, and severity of tics exhibited vary tremendously between individuals with Tourette syndrome. Tourette syndrome has a variable age of onset, and tics can start anytime between infancy and age 18. Initial symptoms usually occur before the early teens, and the mean age of onset for both males and females is approximately seven years of age. Most individuals with symptoms initially experience simple muscle tics involving the eyes and the head. These symptoms can progress to tics involving the upper torso, neck, arms, hands, and occasionally the legs and feet. Complex motor tics are usually the latest onset muscle tics. Vocal tics usually have a later onset then motor tics. In some rare cases, people with Tourette syndrome suddenly present with multiple, severe, or bizarre symptoms.

Not only is there extreme variability in clinical symptoms between individuals with Tourette syndrome, but individuals commonly experience a variability in type, frequency, and severity of symptoms within the course of their lifetime. Adolescents with Tourette syndrome often experience unpredictable and variable symptoms, which may be related to fluctuating hormone levels and decreased compliance in taking medications. Adults often experience a decrease in symptoms or a complete end to symptoms.

A number of factors appears to affect the severity and frequency of tics. Stress appears to increase the frequency and severity of tics, while concentration on another part of the body that is not taking part in a tic can result in the temporary alleviation of symptoms. Relaxation, following attempts to suppress the occurrence of tics, may result in an increased frequency of tics. An increased frequency and severity of tics can also result from exposure to drugs such as steroids, cocaine, amphetamines, and caffeine. Hormonal changes such as those that occur prior to the menstrual cycle can also increase the severity of symptoms.

Other associated symptoms

People with Tourette syndrome are more likely to exhibit non-obscene, socially inappropriate behaviors such as expressing insulting or socially unacceptable comments or socially unacceptable actions. It is not known whether these symptoms stem from a more general dysfunction of impulse control that might be part of Tourette syndrome.

Tourette syndrome appears to also be associated with attention deficit disorder (ADD). ADD is a disorder characterized by a short attention span and impulsivity and, in some cases, hyperactivity. Researchers have found that 21–90% of individuals with Tourette syndrome also exhibit symptoms of ADD, whereas 2–15% of the general population exhibit symptoms of ADD.

People with Tourette syndrome are also at higher risk for having symptoms of obsessive-compulsive disorder (OCD). OCD is a disorder characterized by persistent, intrusive, and senseless thoughts (obsessions) or compulsions to perform repetitive behaviors that interfere with normal functioning. A person with OCD, for example, may be obsessed with germs and may counteract this obsession with continual hand washing. Symptoms of OCD are present in 1.9–3% of the general population, whereas 28–50% of people with Tourette syndrome have symptoms of OCD.

Self-injurious behavior (SIB) is also seen more frequently in those with Tourette syndrome. Approximately 34–53% of individuals with Tourette syndrome exhibit some form of self-injuring behavior. The SIB is often related to OCD, but can also occur in those with Tourette syndrome who do not have OCD.

Symptoms of anxiety and depression are also found more commonly in people with Tourette syndrome. It is not clear, however, whether these symptoms are symptoms of Tourette syndrome or occur as a result of having to deal with the symptoms of moderate to severe Tourette syndrome.

People with Tourette syndrome may also be at increased risk for having learning disabilities and personality disorders and may be more predisposed to behaviors such as aggression, antisocial behaviors, severe temper outbursts, and inappropriate sexual behavior. Further controlled studies need to be performed, however, to ascertain whether these behaviors are symptoms of Tourette syndrome. Individuals with Tourette syndrome are more likely to get migraine headaches and to have sleep disorders, such as difficulty falling asleep, staying asleep, or having unusual movements during sleep.

Diagnosis

Tourette syndrome cannot be diagnosed through a blood test. The diagnosis is made through observation and interview of the patient and discussions with other family members. The diagnosis of Tourette syndrome is complicated by a variety of factors. The extreme range of symptoms of this disorder makes it difficult to differentiate Tourette syndrome from other disorders with similar symptoms. Diagnosis is further complicated by the fact that some tics appear to be within the range of normal behavior. For example, an individual who only exhibits tics such as throat clearing and sniffing may be misdiagnosed with a medical problem such as allergies. In addition, bizarre and complex tics such as coprolalia may be mistaken for psychotic or "bad" behavior. Diagnosis is also confounded by individuals who attempt to control tics in public and in front of health care professionals and deny the existence of symptoms. Although there is disagreement over what criteria should be used to diagnosis Tourette syndrome, one aid in the diagnosis is the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). The DSM-IV outlines suggest diagnostic criteria for a variety of conditions, including Tourette syndrome, such as:

• Presence of both motor and vocal tics at some time during the course of the illness.
• The occurrence of multiple tics nearly every day through a period of more than one year, without a remission of tics for a period of greater than three consecutive months.
• Symptoms cause distress or impairment in functioning.
• Age of onset prior to 18 years of age.
• The symptoms are not due to medications or drugs and are not related to another medical condition.

Some physicians critique the DSM-IV criteria, citing that they do not include the full range of behaviors and symptoms seen in Tourette syndrome. Others criticize the criteria since they limit the diagnosis to those who experience a significant impairment, which may not be true for individuals with milder symptoms. For this reason, many physicians use their clinical judgment as well as the DSM-IV criteria as a guide to diagnosing Tourette syndrome.

Treatment and management

There is no cure for Tourette syndrome, and treatment involves the control of symptoms through educational and psychological interventions, behavioral training, and/or medications. The treatment and management of Tourette syndrome vary from patient to patient and should focus on the alleviation of the symptoms that are most bothersome to the patient or that cause the most interference with daily functioning.

Psychological and educational interventions

Psychological treatments such as counseling are not generally useful for the treatment of tics, but can be beneficial in the treatment of associated symptoms such as obsessive-compulsive behavior and attention deficit disorder. Counseling may also help individuals to cope better with the symptoms of this disorder and to have more positive social interactions. Psychological interventions may also help people cope better with stressors that can normally be triggers for tics and negative behaviors. The education of family members, teachers, and peers about Tourette syndrome can be helpful and may foster acceptance and prevent social isolation.

Behavioral training

A variety of behavioral training techniques has been suggested and tried in people with Tourette syndrome. Some of these include conditioning techniques (training a person to respond to a particular stimulus with a particular behavior), awareness training, biofeedback training (learning how to control one's involuntary nervous system), and habit reversal. Relaxation therapies have been tried with short-term success. The effectiveness of behavioral training as a whole is not clear.

Medications

Many people with mild symptoms of Tourette syndrome never require medications. Those with severe symptoms may require medications for all or part of their lifetime. The most effective treatment of tics associated with Tourette syndrome involves the use of drugs such as Haloperidol, pimozide, sulpiride, and tiapride, which decrease the amount of dopamine in the body. Unfortunately, the incidence of side effects, even at low dosages, is quite high. The short-term side effects can include sedation, dysphoria, weight gain, movement abnormalities, depression, and poor school performance. Long-term side effects can include phobias, memory difficulties, and personality changes. These drugs are therefore better candidates for short-term rather than long-term therapy.

Tourette syndrome can also be treated with other drugs such as clonidine, clonazepam, and risperidone, but the efficacy of these treatments is unknown. In many cases, treatment of associated conditions such as ADD and OCD is often more of a concern than the tics themselves. Clonidine used in conjunction with stimulants such as Ritalin may be useful for treating people with Tourette syndrome who also have symptoms of ADD. Stimulants should be used with caution in individuals with Tourette syndrome since they can sometimes increase the frequency and severity of tics. OCD symptoms in those with Tourette syndrome are often treated with drugs such as Prozac, Luvox, Paxil, and Zoloft.

In many cases, the treatment of Tourette syndrome with medications can be discontinued after adolescence. Trials should be performed through the gradual tapering off of medications and should always be done under a doctor's supervision.

Surgical treatments

Several areas of the brain have been targeted for surgical approaches to the treatment of severe tic disorders. In addition, deep brain stimulation (using sound waves to stimulate certain areas of the brain) has been suggested as treatment, as there has been some success with this treatment in other movement disorders. Clinical trials are needed to determine the effectiveness and safety of this treatment for possible use in the future.

Prognosis

The prognosis for Tourette syndrome in individuals without associated psychological conditions is often quite good, and only approximately 10% of people with Tourette syndrome experience severe tic symptoms. Approximately 46% of individuals with Tourette syndrome will experience a decrease in the frequency and severity of tics, and another 26% will experience a complete end of symptoms by late adolescence. Fourteen percent will have no change and 14% will have an increase in symptoms. There does not appear to be a definite correlation between the type, frequency, and severity of symptoms and the eventual prognosis. Patients with severe tics may experience social difficulties and may isolate themselves from others for fear of shocking and embarrassing them. People with Tourette syndrome who have other symptoms such as obsessive compulsive disorder, attention deficit disorder, and self-injurious behavior usually have a poorer prognosis.

Resources

BOOKS

Goldstein, Sam, and Cecil Reynolds. Handbook of Neurodevelopmental and Genetic Disorders in Children. New York, NY: The Guilford Press, 1999.

Haerle, Tracy, ed., and Jim Eisenreich. Children with Tourette Syndrome: A Parent's Guide. Bethesda, MD: Woodbine House, 1992.

Leckman, James, and Donald Cohen. Tourette's Syndrome: Tics, Obsessions, Compulsions: Development, Psychopathology and Clinical Care. New York: John Wiley & Sons, 1999.

Rimoin, David, Michael Connor, and Reed Pyeritz. Emery and Rimoin's Principles and Practice of Medical Genetics, Third Edition. Stoke-on-Trent, England: Pearson Professional Limited, 1997.

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.

Cuker, Adam, et al. "Candidate Locus for Gilles de la Tourette Syndrome/Obsessive Compulsive Disorder/Chronic Tic Disorder at 18q22." American Journal of Medical Genetics 130A (2004): 37–39.

Diaz-Amzaldua, Adriana, et al. "Association Between 7q31 Markers and Tourette Syndrome." American Journal of Medical Genetics 127A (2004): 17–20.

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.

Hu, Chun, et al. "Evaluation of the Genes for the Adrenergic Receptors alpha2A and alpha1C and Gilles de la Tourette syndrome" American Journal of Medical Genetics part B (Neuropsychiatric Genetics) 119B (2003): 54–59.

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.

Paschou, P., et al. "Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region." American Journal of Human Genetics 75 (2004): 545–560.

Pauls, David. "An Update on the Genetics of Gilles de la Tourette Syndrome." Journal of Psychosomatic Research 55 (2003): 7–12.

Robertson, Mary. "Tourette Syndrome, Associated Conditions and the Complexities of Treatment." Brain 123 (2000): 425–462.

Singer, Harvey. "Tourette Syndrome: From Behavior to Biology." Lancet Neurology 4 (2005): 149–159.

ORGANIZATIONS

National Institute of Neurological Disorders and Stroke. 31 Center Drive, MSC 2540, Bldg. 31, Room 8806, Bethesda, MD 20814. (301) 496-5751 or (800) 352-9424. (April 2, 2005.) <http://www.ninds.nih.gov>.

Tourette Syndrome Association, Inc. 42-40 Bell Blvd., Suite 205, Bayside, NY 11361-2820. (718) 224-2999. Fax: (718) 279-9596. (April 2, 2005.) <http://www.tsausa.org>.

Tourette Syndrome Foundation of Canada. 194 Jarvis Street, #206, Toronto, ONT M5B 2B7. Canada. (800) 361-3120. [email protected]. (April 2, 2005.) <http://www.tourette.ca>.

OTHER

"About Tourette Syndrome." Tourette Help. (April 2, 2005.) <http://www.tourettehelp.com/pages/patient/about.html>.

"Online Mendelian Inheritance in Man." (April 2, 2005.) <http://www.ncbi.nlm.nih.gov>.

"Tourette's Disorder." Internet Mental Health. (April 2, 2005.) <http://www.mentalhealth.com/fr20.html>.

Sonja Rene Eubanks, MS, CGC

Tourette syndrome

Definition

Tourette syndrome (TS) is an inherited disorder of the nervous system, characterized by a variable expression of unwanted movements and noises (tics ).

Description

Tourette syndrome is also known as Gilles de la Tourette syndrome, named after Gilles de la Tourette, a French neurologist who first described the syndrome in 1885. Children with Tourette syndrome show symptoms before the age of 18, usually around age seven, and have symptoms that usually last into adulthood. The symptoms of Tourette syndrome are usually motor and/or vocal tics, although in some children other symptoms such as socially inappropriate comments, and socially inappropriate or self-injurious behaviors sometimes occur. Children with Tourette syndrome are more likely to have obsessive-compulsive disorder (OCD), attention deficient disorder (ADD), and attention deficit hyperactivity disorder (ADHD). The symptoms of Tourette syndrome are extremely variable over time, with some symptoms beginning and some ceasing to be a problem as the child grows. Many people with Tourette syndrome experience a decrease in symptoms as they age, and some people see a complete disappearance of their symptoms.

Demographics

Tourette syndrome is found in all populations and all ethnic groups, but is three to four times more common in males than females. The exact frequency of Tourette syndrome is unknown, but estimates range from 0.05 percent to 2 percent. Estimates vary widely in part because many people with Tourette syndrome have very mild symptoms and may not seek medical attention. It is estimated that there are about 1,000 new cases of Tourette syndrome diagnosed in the United States every year.

Causes and symptoms

The causes of Tourette syndrome are not fully understood. Most studies agree that symptoms of Tourette syndrome involve the chemicals in the brain that help transmit information from one nerve cell in the brain to another. These chemicals are called neurotransmitters. Some studies suggest that the tics in Tourette syndrome are caused by an increased amount of a neurotransmitter called dopamine. Other studies suggest instead that there is a problem with a different neurotransmitter called serotonin. Still others believe the problem involves other chemicals required for normal functioning of the brain.

Most studies suggest that Tourette syndrome is an autosomal dominant disorder with decreased penetrance. An autosomal disorder is one that occurs because of an abnormal gene on a chromosome that is not a sex-linked chromosome. A dominant disorder means that it only takes one abnormal gene in a pair of genes to have the disorder. Parents each pass one copy of each gene to their child. Because in autosomal dominant disorders one gene is abnormal, people with this disorder have about a 50 percent chance of passing the abnormal gene to their offspring. Decreased penetrance means that not all people who inherit the abnormal gene develop symptoms. There is some evidence that females who inherit the Tourette syndrome gene have a lower probability of exhibiting symptoms than males who inherit the gene.

The principal symptoms of Tourette syndrome include simple and complex motor and vocal tics. Simple motor tics are characterized by brief muscle contractions of only one or a small number of muscle groups. An eye twitch is an example of a simple motor tic. Complex motor tics tend to appear more complicated and purposeful than simple tics and involve coordinated contractions of several muscle groups. Some examples of complex motor tics include the act of hitting oneself or jumping.

Vocal tics are actually manifestations of motor tics that involve the muscles required for producing sound. Simple vocal tics include stuttering , stammering, abnormal emphasis of part of a word or phrase, and inarticulate noises such as throat clearing, grunts, and high-pitched sounds. Complex vocal tics typically involve the involuntary expression of words. Perhaps the most striking example of this is coprolalia, the involuntary expression of obscene or socially inappropriate words or phrases, which occurs in fewer than one-third of people with Tourette syndrome. The involuntary echoing of the last word, phrase, sentence, or sound vocalized by oneself (phalilalia) or by another person or sound in the environment (echolalia) are also classified as complex tics.

The type, frequency, and severity of tics exhibited varies tremendously among individuals with Tourette syndrome. Tourette syndrome has a variable age of onset, and tics can start anytime between infancy and age 18. Initial symptoms usually occur before the early teens; the average age of onset for both males and females is approximately seven years. Most individuals with symptoms initially experience simple muscle tics involving the eyes and the head. These symptoms can progress to tics involving the upper torso, neck, arms, hands, and occasionally the legs and feet. Complex motor tics are usually the latest-onset motor tics. Vocal tics usually have a later onset than motor tics.

Not only is there extreme variability in symptoms among individuals with Tourette syndrome, but individuals commonly experience variability in type, frequency, and severity of symptoms over the course of their lifetime. Adolescents with Tourette syndrome often experience unpredictable and more severe than usual symptoms, which may be related to fluctuating hormone levels and decreased compliance in taking medications. Many people who as children have Tourette syndrome experience a decrease in symptoms or a complete end to symptoms in their adult years.

Several factors appear to affect the severity and frequency of tics. Stress appears to increase the frequency and severity of tics, while concentration on another part of the body that is not involved in a tic can result in the temporary alleviation of symptoms. Relaxation following attempts to suppress the occurrence of tics may result in an increased frequency of tics. An increased frequency and severity of tics can also result from exposure to such drugs as steroids, cocaine, amphetamines, and caffeine . Hormonal changes, such as those that occur prior to the menstrual cycle, can also increase the severity of symptoms.

Other associated symptoms

People with Tourette syndrome are more likely to exhibit non-obscene, socially inappropriate behaviors such as expressing insulting or socially unacceptable comments or performing socially unacceptable actions. It is not known whether these symptoms stem from more general dysfunction of impulse control that might be part of Tourette syndrome.

Tourette syndrome appears to also be associated with attention deficit disorder (ADD), a disorder characterized by a short attention span and impulsivity, and in some cases hyperactivity. Researchers have found that 21 to 90 percent of individuals with Tourette syndrome also exhibit symptoms of ADD.

People with Tourette syndrome are also at higher risk for having symptoms of obsessive-compulsive disorder (OCD), a disorder characterized by persistent, intrusive, and senseless thoughts (obsessions) or compulsions to perform repetitive behaviors that interfere with normal functioning. A person with OCD, for example, may be obsessed with germs and may counteract this obsession with continual hand washing. Symptoms of OCD are present in 1.9 to 3 percent of the general population, whereas 28 to 50 percent of people with Tourette syndrome have symptoms of OCD.

Self-injurious behavior (SIB) is also seen more frequently in those with Tourette syndrome. Approximately 34 to 53 percent of individuals with Tourette syndrome exhibit some form of self-injuring behavior. The SIB is often related to OCD but can also occur in those with Tourette syndrome who do not have OCD.

Symptoms of anxiety and depression are also found more commonly in people with Tourette syndrome. It is not clear, however, whether these are symptoms of Tourette syndrome or occur as a result of having to deal with the symptoms of moderate to severe Tourette syndrome.

People with Tourette syndrome may also be at increased risk for having learning disabilities and personality disorders and may be more predisposed to such behaviors as aggression, antisocial behaviors, severe temper outbursts, and inappropriate sexual behavior.

When to call the doctor

Parents should call the doctor if they notice the symptoms of Tourette syndrome. The initial tics usually initially involve the face or head, but the doctor should be consulted if any uncontrolled repetitive behavior is observed.

Diagnosis

Tourette syndrome cannot be diagnosed through laboratory tests. Sometimes laboratory tests can be helpful, however, in ruling out other possible conditions. The diagnosis of Tourette syndrome is made by observing and interviewing the child, looking at the family's medical history, and talking to the child's family and sometimes to other caregivers. The diagnosis of Tourette syndrome is complicated by a variety of factors. The extreme range of symptoms of this disorder can make it difficult to differentiate Tourette syndrome from other disorders with similar symptoms. Diagnosis is further complicated by the fact that some tics appear to be within the range of normal behavior. For example, an individual who only exhibits such tics as throat clearing and sniffing may be misdiagnosed with a medical problem such as allergies . In addition, such bizarre and complex tics as coprolalia may be mistaken for psychotic or so-called bad behavior. Diagnosis is also made more difficult because often individuals attempt to control tics in public, and, therefore, the healthcare professional may have difficulty observing the symptoms firsthand. Although there is some disagreement over what criteria should be used to diagnose Tourette syndrome, the most common aid in the diagnosis is the DSM-IV. The DSM-IV outlines suggested diagnostic criteria for a variety of conditions, including Tourette syndrome.

DSM-IV criteria are:

• presence of both motor and vocal tics at some time during the course of the illness
• the occurrence of multiple tics nearly every day through a period of more than one year without a remission of tics for a period of greater than three consecutive months
• distress or impairment in functioning caused by symptoms
• onset occurs prior to age 18
• symptoms not due to medications or drugs and not related to another medical condition

Some physicians criticize the DSM-IV criteria, arguing that they do not include the full range of behaviors and symptoms seen in Tourette syndrome. Others criticize the criteria because they limit the diagnosis to those who experience a significant impairment, which may exclude individuals who have the syndrome but exhibit milder symptoms. For these reasons many physicians use their clinical judgment as well as the DSM-IV criteria as a guide to diagnosing Tourette syndrome.

Treatment

There is no cure for Tourette syndrome. Treatment involves the control of symptoms through educational and psychological interventions and/or medications. The treatment and management of Tourette syndrome varies from patient to patient and should focus on the alleviation of the symptoms that are most bothersome to the individual or that cause the most interference with daily functioning.

Psychological and educational interventions

Psychological treatments such as counseling are not generally useful for the treatment of tics but can be beneficial in the treatment of associated symptoms such as obsessive-compulsive behavior and attention deficit disorder. Counseling may also help individuals to cope better with the symptoms of Tourette syndrome and to have more positive social interactions. Psychological interventions may also help people cope better with stressors that can normally trigger tics. The education of family members, teachers, and peers about Tourette syndrome can be helpful and may help to foster acceptance and prevent social isolation.

Medications

Many people with mild symptoms of Tourette syndrome never require medication. Those with more severe symptoms may require medication for all or part of their lifetime. As of 2004, the most effective treatment of tics associated with Tourette syndrome involved the use of drugs such as haloperidol, pimozide, sulpiride, and tiapride, which decrease the amount of dopamine in the body. Unfortunately, even at low dosages, these drugs bring a high incidence of side effects. The short-term side effects can include sedation, dysphoria, weight gain, movement abnormalities, depression, and poor school performance. Long-term side effects can include phobias , memory difficulties, and personality changes. These drugs are, therefore, better suited for short-term rather than long-term therapy.

In many cases, treatment of associated conditions such as ADD and OCD is considered more important than the tics themselves. Clonidine used in conjunction with such stimulants as Ritalin may be useful for treating people with Tourette syndrome who also have symptoms of ADD. Stimulants should be used with caution in individuals with Tourette syndrome, since they can sometimes increase the frequency and severity of tics. OCD symptoms in those with Tourette syndrome are often treated with such drugs as Prozac, Luvox, Paxil, and Zoloft.

In many cases the treatment of Tourette syndrome with medications can be discontinued after adolescence . Trials should be performed through the gradual tapering off of medications and should always be done under a doctor's supervision.

Prognosis

The prognosis for Tourette syndrome is fairly good. Although symptoms generally get worse during early adolescence, many people with Tourette syndrome experience a lessening of the severity of their symptoms during late adolescence and early adulthood. Approximately one third of children with Tourette syndrome will experience complete or nearly complete remission during their late adolescent and early adult years. Another third will experience a significant drop off in the severity and/or frequency of their symptoms during this time. It is difficult to tell how many children with Tourette syndrome experience complete remission over their entire adult lives, but it has been estimated to be about 8 percent. Many children who do not have complete and lasting remission will experience months or even years without significant symptoms. There does not appear to be a definite correlation between the type, frequency, and severity of symptoms and the eventual prognosis. People with Tourette syndrome who have other symptoms such as obsessive-compulsive disorder, attention deficit disorder, and self-injurious behavior usually have a poorer prognosis.

Prevention

There is no known way to prevent Tourette syndrome.

Parental concerns

Tourette syndrome does not, in itself, negatively affect intelligence or cognition. It is, however, often associated with other disorders such as obsessive-compulsive disorder and attention deficit disorder. It is also sometimes associated with learning and psychological disorders, many of which are often more debilitating than Tourette syndrome itself. Tourette syndrome does not reduce life expectancy. Children with Tourette syndrome often have problems socializing because of embarrassment over uncontrollable tics and negative reactions from parents, teachers, and peers who do not understand the disorder. Children with Tourette syndrome may need special attention to help them cope with the social implications of their disorder.

KEY TERMS

Attention deficit disorder (ADD) —Disorder characterized by a short attention span, impulsivity, and in some cases hyperactivity.

Autosomal dominant —A pattern of inheritance in which only one of the two copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes. A person with an autosomal dominant disorder has a 50% chance of passing it to each of their offspring.

Coprolalia —The involuntary use of obscene language.

Copropraxia —The involuntary display of unacceptable/obscene gestures.

Decreased penetrance —Individuals who inherit a changed disease gene but do not develop symptoms.

Dysphoria —Feelings of anxiety, restlessness, and dissatisfaction.

Echolalia —Involuntary echoing of the last word, phrase, or sentence spoken by someone else.

Echopraxia —The imitation of the movement of another individual.

Neurotransmitter —A chemical messenger that transmits an impulse from one nerve cell to the next.

Obsessive-compulsive disorder —An anxiety disorder marked by the recurrence of intrusive or disturbing thoughts, impulses, images, or ideas (obsessions) accompanied by repeated attempts to supress these thoughts through the performance of certain irrational and ritualistic behaviors or mental acts (compulsions).

Phalilalia —Involuntary echoing by an individual of the last word, phrase, sentence, or sound he/she vocalized.

Tic —A brief and intermittent involuntary movement or sound.

Resources

BOOKS

Chowdhury, Uttom. Tics and Tourette Syndrome: A Handbook for Parents and Professionals. New York: Taylor & Francis Inc., 2004.

Cohen, Donald J., et al. Tourette Syndrome. London: Lippincott Williams & Wilkins, 2000.

Lechman, James F. Tourette's Syndrome—Tics, Obsessions, Compulsions: Developmental Psychopathology and Clinical Care. New York: John Wiley & Sons, 2001.

Waltz, Mitzi, et al. Tourette's Syndrome: Finding Answers and Getting Help. Cambridge, MA: O'Reilly Media, 2001.

PERIODICALS

Prestia, Kelly. "Tourette's Syndrome: Characteristics and Interventions." Intervention in School & Clinic, 39, no. 2 (November 2003): 67.

ORGANIZATIONS

National Tourette Syndrome Association. 42–40 Bell Blvd., Bayside, NY 11361–2820. Web site: <http://tsa-usa.org/>.

Tish Davidson, A.M.