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Tourette's syndrome

 
Medical Encyclopedia: 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%.

— Lisa Maria Andres, MS, CGC



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Dictionary: Tou·rette's syndrome   (tʊ-rĕts') pronunciation or Tou·rette syndrome
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(-rĕt')
n.
A severe neurological disorder characterized by multiple facial and other body tics, usually beginning in childhood or adolescence and often accompanied by grunts and compulsive utterances, as of interjections and obscenities. Also called Gilles de la Tourette syndrome.

[After Georges Gilles de la Tourette (1857-1904), French physician.]


Britannica Concise Encyclopedia: Tourette syndrome
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Rare neurological disease that causes repetitive motor and vocal tics. Named for Georges Gilles de la Tourette, who first described it in 1885, it occurs worldwide, is usually inherited, generally begins at ages 2 – 15, and is three times more common in males. Motor tics occur first in about 80% of cases, compulsions to utter abnormal sounds in the rest. A compulsion to utter obscenities, once thought characteristic, is often absent. Repetition of words heard and spontaneous repetition of one's own words are two distinctive symptoms. Other vocal tics may include meaningless sounds. Motor tics may be virtually unnoticeable; more complex ones may appear intentional (e.g., hopping, clapping). Sleep, intense concentration, and exertion tend to suppress the tics; emotional stress worsens them. Unlike psychiatric compulsive disorders, Tourette syndrome has a neurological origin and may improve with psychogenic drugs. Brain neurotransmitter abnormalities may be involved, but the underlying cause remains uncertain.

For more information on Tourette syndrome, visit Britannica.com.

Neurological Disorder:

Tourette syndrome

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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 or by contacting the Patient Recruitment and Public Liaison Office at 1-800-411-1222 or at prpl@mail.cc.nih.gov.

  • 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, .
  • 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, .
  • 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,
  • 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, .
  • 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, .

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 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 .

  • 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 or by contacting Joel E. Kleinman, MD at (301) 402-7909 or kleinmaj@intra.nimh.nih.gov.
  • 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 or by contacting the patient recruitment and public liaison office at (800) 411-1222 or prpl@mail.cc.nih.gov.
  • 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 or by contacting the patient recruitment and public liaison office at (800) 411-1222 or prpl@mail.cc.nih.gov.
  • 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 clintrls@psych.med.ufl.edu; the study chair, Wayne Goodman, MD at (877) 788-3994 or wkgood@psychiatry.ufl.edu; or Candy Hill at (352) 392-3681 or chill@psychiatry.ufl.edu.
  • 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 or by contacting Diane M. Kazuba at (301) 496-8977 or kazubad@intra.nimh. 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 or by contacting the patient recruitment and public liaison office at 1-800-411-1222 or prpl@mail.cc.nih.gov.

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. ts@tsa-usa.org. 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. tsfc@tourette.ca. http://www.tourette.ca/index.shtml.

Dawn J. Cardeiro, MS, CGC


Sci-Tech Encyclopedia: Tourette's syndrome
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A neurobehavioral disorder characterized by frequent, recurrent motor and vocal tics. The motor tics include brief, rapid, and darting movements of almost any muscle group, and can include eye blinking, eye rolling or deviations, nose wrinkling, facial grimacing, and head shaking. Some motor tics are more complex, are slow, and appear purposeful such as head turning, shoulder shrugging, touching, hopping, or twirling. Vocal tics are brief guttural sounds such as recurrent sniffing, throat clearing, coughing, and grunting or barking sounds. Complex vocal tics can be more meaningful and include verbal expressions. Tourette's syndrome has been described in nearly every country and ethnic group, with an estimated prevalence of one or two occurrences per 2000 people.

The motor and vocal tics begin in childhood, often worsen during adolescence, and tend to improve during the twenties and thirties. Symptoms increase with stress and excitement and decrease with activities that require focused effort. While the motor and vocal tics are involuntary, they can be suppressed for brief periods of time, giving the false impression that the movements and sounds are voluntary.

The pattern of inheritance is consistent with a single autosomal dominant gene whose expression is variable and dependent on the sex of the person. Tic symptoms can vary from transient tics to Tourette's syndrome and can include obsessive-compulsive symptoms. The complexity of symptoms is likely related to the various brain regions implicated in the development of Tourette's syndrome. Treatment can be targeted toward suppressing tics and the specific associated behavioral problems. Methods for tic suppression include medications that affect the brain by blocking the neurotransmitter dopamine at the site of nerve-to-nerve connections. See also Brain; Human genetics; Nervous system disorders.


Dental Dictionary: Tourette’s syndrome
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n

A condition in which the patient is unable to control numerous muscular and vocal tics, often resulting in twitching, grunting, or the making of inappropriate comments.

Alternative Medicine Encyclopedia: Tourette Syndrome
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Definition

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

Description

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

It is important to note, however, that the symptoms of Tourette syndrome are not always dramatic and are often overlooked in people with mild cases of the disorder. A 2001 report published in Pain & Central Nervous System Week, in fact, states that TS is much more common than doctors had thought. A study of 1,596 special-education children in Rochester, NY, found that 8% met the criteria for TS, and 27% had a tic disorder. In Rochester's general population, 3% were found to have Tourette syndrome, and 20% had a tic disorder. The rate of 3% in the general population is 50–75 times higher than the usual estimates given.

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

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

Causes & Symptoms

Causes

Tourette syndrome has been linked to parts of the brain known as the basal ganglia, which regulate movements and are involved in concentration, paying attention, and decision-making. Research has also demonstrated that in TS there is a malfunction in the brain's production or use of important substances called neurotransmitters. Neurotransmitters are chemicals that control the signals that are sent along the nerve cells. The neurotransmitters dopamine and serotonin have been implicated in TS; noradrenaline is thought to be the most important stimulant. Medications that mimic noradrena-line may cause tics in susceptible patients.

TS has a genetic component. If one parent has TS, each child has a 50% chance of getting the abnormal gene. Seven of every 10 girls who inherit the gene, and nearly all boys who inherit it, will develop symptoms of TS. Overall, about one in every 2,500 persons has full-blown TS. Three times as many will have some features, usually chronic motor tics or obsessive thoughts. Patients with TS are more likely to have trouble controlling their impulses, to have dyslexia or other learning problems, and to talk in their sleep or wake frequently. Compulsive behavior, such as constantly washing the hands or repeatedly checking that a door is locked, is a common feature of TS. Compulsions are seen in 30–90% of all TS patients.

Recent research findings suggest that Tourette syndrome may also be related to an autoimmune response. A subset of TS patients have symptoms triggered by infection with Group A beta-hemolytic streptococci. In addition, blood serum antibodies against human basal ganglia have been found in patients with TS.

Symptoms

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

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

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

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

Diagnosis

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

Treatment

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

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

Allopathic Treatment

Most TS patients do not need to take drugs, as their tics do not seriously interfere with their lives. Drugs that are used to reduce the symptoms of TS include haloperidol (Haldol), pimozide (Orap), clonidine (Catapres), guanfacine (Tenex), and risperidone (Risperdal). One interesting recent finding is that the transdermal nicotine patch, developed to help people quit smoking, improves the control of TS symptoms in children who take haloperidol. Use of the patch allows the haloperidol dosage to be cut in half without loss of effectiveness in symptom control.

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

Expected Results

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

Prevention

The only known way to prevent TS as of 2004 is for a couple not to have children when one of them has the condition. Any child of a TS parent has a 50% chance of inheriting the syndrome.

Resources

Books

Landau, Elaine. Tourette Syndrome. Danbury, CT: Franklin Watts, 1998.

Leckman, James F., and Donald J. Cohen. Tourette's Syndrome—Tics, Obsessions, Compulsions: Developmental Psychopathology and Clinical Care. New York: John Wiley &Sons, Inc., 1998.

The Merck Manual of Diagnosis and Therapy. Edited by Mark H. Beers, MD, and Robert Berkow, MD. Whitehouse Station, NJ: Merck Research Laboratories, 1999.

Periodicals

"Nicotine Patch Could Help Against Condition's Tics." Health & Medicine Week (October 8, 2001).

"Rate of Disease Much Higher Than Had Been Thought." Pain & Central Nervous System Week (November 19, 2001): 9.

Trifiletti, Rosario. "Antistriatal Antibodies in Tourette Syndrome: Not a Simple Story." Neurology Alert 20 (October 2001): 14.

Organizations

National Institute of Neurological Disorders and Stroke. National Institutes of Health. P.O. Box 5801, Bethesda, MD 20824. (800) 352-9424. .

Tourette Syndrome Association, Inc. 42-40 Bell Boulevard, Bayside, NY 11361-2820. (718) 224-2999. Fax: (718) 279-9596. ts@tsa-usa.org. .

Other

"Tourette Disorder." Internet Mental Health. [cited October 2002]. .

[Article by: Belinda Rowland; Rebecca J. Frey, PhD]

Children's Health Encyclopedia: Tourette Syndrome
Top

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.

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: .

[Article by: Tish Davidson, A.M.]



Wikipedia: Tourette syndrome
Top
Tourette syndrome
Classification and external resources

Georges Gilles de la Tourette
(1859–1904)
ICD-10 F95.2
ICD-9 307.23
OMIM 137580
DiseasesDB 5220
MedlinePlus 000733
eMedicine med/3107 neuro/664
MeSH D005879

Tourette syndrome (also called Tourette's syndrome, Tourette's disorder, Gilles de la Tourette syndrome, GTS or, more commonly, simply Tourette's or TS) is an inherited neuropsychiatric disorder with onset in childhood, characterized by the presence of multiple physical (motor) tics and at least one vocal (phonic) tic; these tics characteristically wax and wane. Tourette's is defined as part of a spectrum of tic disorders, which includes transient and chronic tics.

Tourette's was once considered a rare and bizarre syndrome, most often associated with the exclamation of obscene words or socially inappropriate and derogatory remarks (coprolalia). However, this symptom is present in only a small minority of people with Tourette's.[1] Tourette's is no longer considered a rare condition, but it may not always be correctly identified because most cases are classified as mild. Between 1 and 10 children per 1,000 have Tourette's;[2] as many as 10 per 1,000 people may have tic disorders,[3][4] with the more common tics of eye blinking, coughing, throat clearing, sniffing, and facial movements. People with Tourette's have normal life expectancy and intelligence. The severity of the tics decreases for most children as they pass through adolescence, and extreme Tourette's in adulthood is a rarity. Notable individuals with Tourette's are found in all walks of life.[5]

Genetic and environmental factors each play a role in the etiology of Tourette's, but the exact causes are unknown. In most cases, medication is unnecessary. There is no effective medication for every case of tics, but there are medications and therapies that can help when their use is warranted. Explanation and reassurance alone are often sufficient treatment;[6] education is an important part of any treatment plan.[7]

The eponym was bestowed by Jean-Martin Charcot (1825–93) on behalf of his resident, Georges Albert Édouard Brutus Gilles de la Tourette (1859–1904), a French physician and neurologist, who published an account of nine patients with Tourette's in 1885.

Contents

Classification

Tics are sudden, repetitive, stereotyped, nonrhythmic movements (motor tics) and utterances (phonic tics) that involve discrete muscle groups.[8] Motor tics are movement-based tics, while phonic tics are involuntary sounds produced by moving air through the nose, mouth, or throat.

Tourette's is one of several tic disorders, which are classified by the Diagnostic and Statistical Manual of Mental Disorders (DSM) according to type (motor or phonic tics) and duration (transient or chronic). Transient tic disorder consists of multiple motor tics, phonic tics or both, with a duration between four weeks and twelve months. Chronic tic disorder is either single or multiple, motor or phonic tics (but not both), which are present for more than a year.[8] Tourette's is diagnosed when multiple motor tics, and at least one phonic tic, are present for more than a year.[9] Tic disorders are defined similarly by the World Health Organization (International Statistical Classification of Diseases and Related Health Problems, ICD-10 codes).[10]

Although Tourette's is the more severe expression of the spectrum of tic disorders,[11] most cases are mild.[12] The severity of symptoms varies widely among people with Tourette's, and mild cases may be undetected.[8]

Characteristics

Tics are movements or sounds "that occur intermittently and unpredictably out of a background of normal motor activity",[13] having the appearance of "normal behaviors gone wrong".[14] The tics associated with Tourette's constantly change in number, frequency, severity and anatomical location. Waxing and waning—the ongoing increase and decrease in severity and frequency of tics—occurs differently in each individual. Tics also occur in "bouts of bouts", which vary for each person.[8]

Coprolalia (the spontaneous utterance of socially objectionable or taboo words or phrases) is the most publicized symptom of Tourette's, but it is not required for a diagnosis of Tourette's and only about 10% of Tourette's patients exhibit coprolalia.[15] Echolalia (repeating the words of others) and palilalia (repeating one's own words) occur in a minority of cases,[8] while the most common initial motor and vocal tics are, respectively, eye blinking and throat clearing.[16]

Video clips of tics
HBO documentary video clip
CBS News video clip
From the TSA, an adult with tics

In contrast to the abnormal movements of other movement disorders (for example, choreas, dystonias, myoclonus, and dyskinesias), the tics of Tourette's are stereotypic, temporarily suppressible, nonrhythmic, and often preceded by an unwanted premonitory urge.[17] Immediately preceding tic onset, most individuals with Tourette's are aware of an urge,[18][19] similar to the need to sneeze or scratch an itch. Individuals describe the need to tic as a buildup of tension, pressure, or energy[19][20] which they consciously choose to release, as if they "had to do it"[21] to relieve the sensation[19] or until it feels "just right".[21][22] Examples of the premonitory urge are the feeling of having something in one's throat, or a localized discomfort in the shoulders, leading to the need to clear one's throat or shrug the shoulders. The actual tic may be felt as relieving this tension or sensation, similar to scratching an itch. Another example is blinking to relieve an uncomfortable sensation in the eye. These urges and sensations, preceding the expression of the movement or vocalization as a tic, are referred to as "premonitory sensory phenomena" or premonitory urges. Because of the urges that precede them, tics are described as semi-voluntary or "unvoluntary",[13] rather than specifically involuntary; they may be experienced as a voluntary, suppressible response to the unwanted premonitory urge.[15] Published descriptions of the tics of Tourette's identify sensory phenomena as the core symptom of the syndrome, even though they are not included in the diagnostic criteria.[20][23][24]

While individuals with tics are sometimes able to suppress their tics for limited periods of time, doing so often results in an explosion of tics afterward.[6] People with Tourette's may seek a secluded spot to release their symptoms, or there may be a marked increase in tics after a period of suppression at school or at work.[14] Some people with Tourette's may not be aware of the premonitory urge. Children may be less aware of the premonitory urge associated with tics than are adults, but their awareness tends to increase with maturity.[13] They may have tics for several years before becoming aware of premonitory urges. Children may suppress tics while in the doctor's office, so they may need to be observed while they are not aware they are being watched.[25] The ability to suppress tics varies among individuals, and may be more developed in adults than children.

Although there is no such thing as a "typical" case of Tourette syndrome,[6] the condition follows a fairly reliable course in terms of the age of onset and the history of the severity of symptoms. Tics may appear up to the age of eighteen, but the most typical age of onset is from five to seven.[8] A 1998 study published by Leckman et al. of the Yale Child Study Center[26] showed that the ages of highest tic severity are eight to twelve (average ten), with tics steadily declining for most patients as they pass through adolescence.[22] The most common, first-presenting tics are eye blinking, facial movements, sniffing and throat clearing. Initial tics present most frequently in midline body regions where there are many muscles, usually the head, neck and facial region.[6] This can be contrasted with the stereotyped movements of other disorders (such as stims and stereotypies of the autism spectrum disorders), which typically have an earlier age of onset, are more symmetrical, rhythmical and bilateral, and involve the extremities (e.g., flapping the hands).[27] Tics that appear early in the course of the condition are frequently confused with other conditions, such as allergies, asthma, and vision problems: pediatricians, allergists and ophthalmologists are typically the first to see a child with tics.[8]

Among patients whose symptoms are severe enough to warrant referral to clinics, obsessive–compulsive disorder (OCD) and attention-deficit hyperactivity disorder (ADHD) are often associated with Tourette's.[22] Not all persons with Tourette's have ADHD or OCD or other comorbid conditions (co-occurring diagnoses other than Tourette's), although in clinical populations, a high percentage of patients presenting for care do have ADHD.[22][28] One author reports that a ten-year overview of patient records revealed about 40% of patients with Tourette's have "TS-only" or "pure TS", referring to Tourette syndrome in the absence of ADHD, OCD and other disorders.[29][30] Another author reports that 57% of 656 patients presenting with tic disorders had uncomplicated tics, while 43% had tics plus comorbid conditions.[14] "Full-blown Tourette's" is a term used to describe patients who have significant comorbid conditions in addition to tics.[14]

Causes

The exact cause of Tourette's is unknown, but it is well established that both genetic and environmental factors are involved.[31] Genetic studies have shown that the overwhelming majority of cases of Tourette's are inherited, although the exact mode of inheritance is not yet known,[32] and no gene has been identified.[6] In some cases, Tourette's is sporadic, that is, it is not inherited from parents.[33] In other cases, tics are associated with disorders other than Tourette's, a phenomenon known as tourettism.[34]

Brain structures implicated in Tourette's syndrome

A person with Tourette's has about a 50% chance of passing the gene(s) to one of his or her children, but Tourette's is a condition of variable expression and incomplete penetrance.[35] Thus, not everyone who inherits the genetic vulnerability will show symptoms; even close family members may show different severities of symptoms, or no symptoms at all. The gene(s) may express as Tourette's, as a milder tic disorder (transient or chronic tics), or as obsessive–compulsive symptoms without tics. Only a minority of the children who inherit the gene(s) have symptoms severe enough to require medical attention.[36] Gender appears to have a role in the expression of the genetic vulnerability: males are more likely than females to express tics.[25]

Non-genetic, environmental, infectious, or psychosocial factors—while not causing Tourette's—can influence its severity.[6] Autoimmune processes may affect tic onset and exacerbation in some cases. In 1998, a team at the US National Institute of Mental Health proposed a hypothesis that both obsessive–compulsive disorder (OCD) and tic disorders may arise in a subset of children as a result of a poststreptococcal autoimmune process.[37] Children who meet five diagnostic criteria are classified, according to the hypothesis, as having Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS).[38] This contentious hypothesis is the focus of clinical and laboratory research, but remains unproven.[39][40]

The exact mechanism affecting the inherited vulnerability to Tourette's has not been established, and the precise etiology is unknown. Tics are believed to result from dysfunction in cortical and subcortical regions, the thalamus, basal ganglia and frontal cortex.[31] Neuroanatomic models implicate failures in circuits connecting the brain's cortex and subcortex,[6] and imaging techniques implicate the basal ganglia and frontal cortex.[41]

Some forms of OCD may be genetically linked to Tourette's.[22][42] A subset of OCD is thought to be etiologically related to Tourette's and may be a different expression of the same factors that are important for the expression of tics.[43] The genetic relationship of ADHD to Tourette syndrome, however, has not been fully established.[30]

Diagnosis

According to the revised fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR), Tourette’s Disorder may be diagnosed when a person exhibits both multiple motor and one or more vocal tics (although these do not need to be concurrent) over the period of a year, with no more than three consecutive tic-free months. The previous DSM-IV included a requirement for "marked distress or significant impairment in social, occupational or other important areas of functioning", but this requirement was removed in the most recent update of the manual, in recognition that clinicians see patients who meet all the other criteria for Tourette's, but do not have distress or impairment.[44] The onset must have occurred before the age of 18, and cannot be attributed to the "direct physiological effects of a substance or a general medical condition".[9] Hence, other medical conditions that include tics or tic-like movements—such as autism or other causes of tourettism—must be ruled out before conferring a Tourette's diagnosis.

There are no specific medical or screening tests that can be used in diagnosing Tourette's;[22] it is frequently misdiagnosed or underdiagnosed, partly because of the wide expression of severity, ranging from mild (the majority of cases) or moderate, to severe (the rare, but more widely-recognized and publicized cases).[26] Coughing, eye blinking and tics that mimic asthma are commonly misdiagnosed.[15]

The diagnosis is made based on observation of the individual's symptoms and family history,[15] and after ruling out secondary causes of tic disorders.[36] In patients with a typical onset and a family history of tics or obsessive–compulsive disorder, a basic physical and neurological examination may be sufficient.[11]

There is no requirement that other comorbid conditions (such as ADHD or OCD) be present,[15] but if a physician believes that there may be another condition present that could explain tics, tests may be ordered as necessary to rule out that condition. An example of this is when diagnostic confusion between tics and seizure activity exists, which would call for an EEG, or if there are symptoms that indicate an MRI to rule out brain abnormalities.[45] TSH levels can be measured to rule out hypothyroidism, which can be a cause of tics. Brain imaging studies are not usually warranted.[45] In teenagers and adults presenting with a sudden onset of tics and other behavioral symptoms, a urine drug screen for cocaine and stimulants might be necessary. If a family history of liver disease is present, serum copper and ceruloplasmin levels can rule out Wilson's disease.[11] However, most cases are diagnosed by merely observing a history of tics.[6][36]

Secondary causes of tics (not related to inherited Tourette syndrome) are commonly referred to as tourettism.[34] Dystonias, choreas, other genetic conditions, and secondary causes of tics should be ruled out in the differential diagnosis for Tourette syndrome.[11] Other conditions that may manifest tics or stereotyped movements include developmental disorders, autism spectrum disorders,[46] and stereotypic movement disorder;[47][48] Sydenham's chorea; idiopathic dystonia; and genetic conditions such as Huntington's disease, neuroacanthocytosis, Hallervorden-Spatz syndrome, Duchenne muscular dystrophy, Wilson's disease, and tuberous sclerosis. Other possibilities include chromosomal disorders such as Down syndrome, Klinefelter's syndrome, XYY syndrome and fragile X syndrome. Acquired causes of tics include drug-induced tics, head trauma, encephalitis, stroke, and carbon monoxide poisoning.[11][34] The symptoms of Lesch-Nyhan syndrome may also be confused with Tourette syndrome.[27] Most of these conditions are rarer than tic disorders, and a thorough history and examination may be enough to rule them out, without medical or screening tests.[6]

Screening

Although not all people with Tourette's have comorbid conditions, most Tourette's patients presenting for clinical care at specialty referral centers may exhibit symptoms of other conditions along with their motor and phonic tics.[30] Associated conditions include attention-deficit hyperactivity disorder (ADD or ADHD), obsessive–compulsive disorder (OCD), learning disabilities and sleep disorders.[3] Disruptive behaviors, impaired functioning, or cognitive impairment in patients with comorbid Tourette's and ADHD may be accounted for by the comorbid ADHD, highlighting the importance of identifying and treating comorbid conditions.[22][28][49] Disruption from tics is commonly overshadowed by comorbid conditions that present greater interference to the child.[6] Tic disorders in the absence of ADHD do not appear to be associated with disruptive behavior or functional impairment,[4] while impairment in school, family, or peer relations is greater in patients who have more comorbid conditions and often determines whether therapy is needed.[14]

Because comorbid conditions such as OCD and ADHD can be more impairing than tics, these conditions are included in an evaluation of patients presenting with tics. "It is critical to note that the comorbid conditions may determine functional status more strongly than the tic disorder," according to Samuel Zinner, MD.[6] The initial assessment of a patient referred for a tic disorder should include a thorough evaluation, including a family history of tics, ADHD, obsessive–compulsive symptoms, and other chronic medical, psychiatric and neurological conditions. Children and adolescents with TS who have learning difficulties are candidates for psychoeducational testing, particularly if the child also has ADHD.[45] Undiagnosed comorbid conditions may result in functional impairment, and it is necessary to identify and treat these conditions to improve functioning. Complications may include depression, sleep problems, social discomfort and self-injury.[11]

Management

Clonidine (or the clonidine patch) is one of the medications typically tried first when medication is needed for Tourette's.

The treatment of Tourette's focuses on identifying and helping the individual manage the most troubling or impairing symptoms.[6] Most cases of Tourette's are mild, and do not require pharmacological treatment;[12] instead, psychobehavioral therapy, education, and reassurance may be sufficient.[50] Treatments, where warranted, can be divided into those that target tics and comorbid conditions, which, when present, are often a larger source of impairment than the tics themselves.[45] Not all people with tics have comorbid conditions,[30] but when those conditions are present, they often take treatment priority.

There is no cure for Tourette's and no medication that works universally for all individuals without significant adverse effects. Knowledge, education and understanding are uppermost in management plans for tic disorders.[6] The management of the symptoms of Tourette's may include pharmacological, behavioral and psychological therapies. While pharmacological intervention is reserved for more severe symptoms, other treatments (such as supportive psychotherapy or cognitive behavioral therapy) may help to avoid or ameliorate depression and social isolation, and to improve family support. Educating a patient, family, and surrounding community (such as friends, school, and church) is a key treatment strategy, and may be all that is required in mild cases.[6][51]

Model of a haloperidol molecule. Haloperidol is an antipsychotic medication sometimes used to treat severe cases of Tourette's.

Medication is available to help when symptoms interfere with functioning.[36] The classes of medication with the most proven efficacy in treating tics—typical and atypical neuroleptics including risperidone (trade name[52] Risperdal), ziprasidone (Geodon), haloperidol (Haldol), pimozide (Orap) and fluphenazine (Prolixin)—can have long-term and short-term adverse effects.[45] The antihypertensive agents clonidine (trade name Catapres) and guanfacine (Tenex) are also used to treat tics; studies show variable efficacy, but a lower side effect profile than the neuroleptics.[1] Stimulants and other medications may be useful in treating ADHD when it co-occurs with tic disorders. Drugs from several other classes of medications can be used when stimulant trials fail, including guanfacine (trade name Tenex), atomoxetine (Strattera) and tricyclics. Clomipramine (Anafranil), a tricyclic antidepressant, and SSRIs—a class of antidepressants including fluoxetine (Prozac), sertraline (Zoloft), and fluvoxamine (Luvox)—may be prescribed when a Tourette's patient also has symptoms of obsessive–compulsive disorder. Several other medications have been tried, including nicotine patches, but evidence to support their use is unconvincing.[45]

Because children with tics often present to physicians when their tics are most severe, and because of the waxing and waning nature of tics, it is recommended that medication not be started immediately or changed often.[6] Frequently, the tics subside with explanation, reassurance, understanding of the condition and a supportive environment.[6] When medication is used, the goal is not to eliminate symptoms: it should be used at the lowest possible dose that manages symptoms without adverse effects, given that these may be more disturbing than the symptoms for which they were prescribed.[6]

Cognitive behavioral therapy (CBT) is a useful treatment when OCD is present,[53] and there is increasing evidence supporting the use of habit reversal in the treatment of tics.[54] Relaxation techniques, such as exercise, yoga or meditation, may be useful in relieving the stress that may aggravate tics, but the majority of behavioral interventions (such as relaxation training and biofeedback, with the exception of habit reversal) have not been systematically evaluated and are not empirically supported therapies for Tourette's.[55]

Prognosis

André Malraux (1901–1976) was a French author, adventurer and statesman who had Tourette syndrome.[56][57][58][59] President Kennedy, Mme Malraux, French Minister of Culture André Malraux, Jackie Kennedy and Vice President Johnson were photographed at the unveiling of the Mona Lisa at the National Gallery of Art, Washington DC, in 1963.[60]

Tourette syndrome is a spectrum disorder—its severity ranges over a spectrum from mild to severe. The majority of cases are mild and require no treatment.[12] In these cases, the impact of symptoms on the individual may be mild, to the extent that casual observers might not know of their condition. The overall prognosis is positive, but a minority of children with Tourette syndrome have severe symptoms that persist into adulthood.[31] A study of 46 subjects at 19 years of age found that the symptoms of 80% had minimum to mild impact on their overall functioning, and that the other 20% experienced at least a moderate impact on their overall functioning.[8] The rare minority of severe cases can inhibit or prevent individuals from holding a job or having a fulfilling social life. In a follow-up study of thirty-one adults with Tourette's, all patients completed high school, 52% finished at least two years of college, and 71% were full-time employed or were pursuing higher education.[61]

Regardless of symptom severity, individuals with Tourette's have a normal life span. Although the symptoms may be lifelong and chronic for some, the condition is not degenerative or life-threatening. Intelligence is normal in those with Tourette's, although there may be learning disabilities.[15] Severity of tics early in life does not predict tic severity in later life,[15] and prognosis is generally favorable,[15] although there is no reliable means of predicting the outcome for a particular individual. The gene or genes associated with Tourette's have not been identified, and there is no potential "cure".[15] A higher rate of migraines then the general population and sleep disturbances are reported.[15]

Several studies have demonstrated that the condition in most children improves with maturity. Tics may be at their highest severity at the time that they are diagnosed, and often improve with understanding of the condition by individuals and their families and friends. The statistical age of highest tic severity is typically between eight and twelve, with most individuals experiencing steadily declining tic severity as they pass through adolescence. One study showed no correlation with tic severity and the onset of puberty, in contrast with the popular belief that tics increase at puberty. In many cases, a complete remission of tic symptoms occurs after adolescence.[26][62] However, a study using videotape to record tics in adults found that, although tics diminished in comparison with childhood, and all measures of tic severity improved by adulthood, 90% of adults still had tics. Half of the adults who considered themselves tic-free still displayed evidence of tics.[61]

It is not uncommon for the parents of affected children to be unaware that they, too, may have had tics as children. Because Tourette's tends to subside with maturity, and because milder cases of Tourette's are now more likely to be recognized, the first realization that a parent had tics as a child may not come until their offspring is diagnosed. It is not uncommon for several members of a family to be diagnosed together, as parents bringing children to a physician for an evaluation of tics become aware that they, too, had tics as a child.

Tim Howard, goalkeeper for Everton F.C., says, "Tourette's Syndrome is not a problem. ... It doesn't affect me one way or another on or off the field."[63]

Children with Tourette's may suffer socially if their tics are viewed as "bizarre". If a child has disabling tics, or tics that interfere with social or academic functioning, supportive psychotherapy or school accommodations can be helpful.[36] Because comorbid conditions (such as ADHD or OCD) can cause greater impact on overall functioning than tics, a thorough evaluation for comorbidity is called for when symptoms and impairment warrant.[11]

A supportive environment and family generally gives those with Tourette's the skills to manage the disorder.[64][65] People with Tourette's may learn to camouflage socially inappropriate tics or to channel the energy of their tics into a functional endeavor. Accomplished musicians, athletes, public speakers, and professionals from all walks of life are found among people with Tourette's. Outcomes in adulthood are associated more with the perceived significance of having severe tics as a child than with the actual severity of the tics. A person who was misunderstood, punished, or teased at home or at school will fare worse than children who enjoyed an understanding and supportive environment.[8]

Epidemiology

Tourette syndrome is found among all social, racial and ethnic groups,[3] has been reported in all parts of the world,[66] and is three to four times more frequent among males than among females.[67] The tics of Tourette syndrome begin in childhood and tend to remit or subside with maturity; thus, a diagnosis may no longer be warranted for many adults, and prevalence is much higher among children than adults.[26] Children are five to twelve times more likely than adults to be identified as having tic disorders;[68] as many as 1 in 100 people experience tic disorders, including chronic tics and transient tics in childhood.[3] The emerging consensus is that 1–10 children per 1,000 have Tourette's,[2] with several studies supporting a tighter range of 6–8 children per 1,000.[4] Using year 2000 census data, a prevalence range of 1–10 per 1,000 yields an estimate of 53,000–530,000 school-age children with Tourette's in the US,[4] and a prevalence estimate of 10 per 1,000 means that in 2001 about 553,000 people in the UK age 5 or older would have Tourette's. Most cases would be mild and almost unrecognizable in older individuals.[66]

Tourette's is associated with several comorbid conditions, or co-occurring diagnoses, which are often the major source of impairment for an affected child.[22] Among patients whose symptoms are severe enough to warrant referral to specialty Tourette's clinics, only a small minority have no other conditions,[69] and obsessive–compulsive disorder (OCD) and attention-deficit hyperactivity disorder (ADHD) are often present.[22][28] In children with Tourette's, ADHD is associated with functional impairment, disruptive behavior, and tic severity. Other comorbid conditions include self-injurious behaviors (SIB), anxiety, depression, personality disorders, oppositional defiant disorder, and conduct disorders.[69] One author reports that a ten-year overview of patient records revealed about 40% of patients with Tourette's have "TS-only" or "pure TS", referring to Tourette syndrome in the absence of ADHD, OCD and other disorders.[29][30]

Tourette syndrome was once thought to be rare: in 1972, the US National Institutes of Health (NIH) believed there were fewer than 100 cases in the United States,[70] and a 1973 registry reported only 485 cases worldwide.[71] However, multiple studies published since 2000 have consistently demonstrated that the prevalence is much higher than previously thought.[72] Discrepancies across current and prior prevalence estimates come from several factors: ascertainment bias in earlier samples drawn from clinically referred cases, assessment methods that may fail to detect milder cases, and differences in diagnostic criteria and thresholds.[73] There were few broad-based community studies published before 2000 and until the 1980s, most epidemiological studies of Tourette syndrome were based on individuals referred to tertiary care or specialty clinics.[1][74] Children with milder symptoms are unlikely to be referred to specialty clinics, so these studies have an inherent bias towards more severe cases.[1][75] Studies of Tourette syndrome are vulnerable to error because tics vary in intensity and expression, are often intermittent, and are not always recognized by clinicians, patients, family members, friends or teachers;[6][76] approximately 20% of persons with Tourette syndrome do not recognize that they have tics.[6] Recent studies—recognizing that tics may often be undiagnosed and hard to detect—use direct classroom observation and multiple informants (parent, teacher, and trained observers), and therefore record more cases than older studies relying on referrals.[51][77] As the diagnostic threshold and assessment methodology have moved towards recognition of milder cases, the result is an increase in estimated prevalence.[73]

History and research directions

Jean-Martin Charcot (1825–1893) was a French neurologist and professor who bestowed the eponym for Tourette syndrome on behalf of his resident, Georges Albert Édouard Brutus Gilles de la Tourette. Charcot is shown here during a lesson with a "hysterical" woman patient at the Salpêtrière hospital.

A French doctor, Jean Marc Gaspard Itard, reported the first case of Tourette syndrome in 1825,[78] describing Marquise de Dampierre, an important woman of nobility in her time.[12] Jean-Martin Charcot, an influential French physician, assigned his resident Georges Albert Édouard Brutus Gilles de la Tourette, a French physician and neurologist, to study patients at the Salpêtrière Hospital, with the goal of defining an illness distinct from hysteria and from chorea.[25]

In 1885, Gilles de la Tourette published an account of nine patients, Study of a Nervous Affliction, concluding that a new clinical category should be defined.[79] The eponym was later bestowed by Charcot after and on behalf of Gilles de la Tourette.[25][80]

Little progress was made over the next century in explaining or treating tics, and a psychogenic view prevailed well into the 20th century.[25] The possibility that movement disorders, including Tourette syndrome, might have an organic origin was raised when an encephalitis epidemic from 1918–1926 led to a subsequent epidemic of tic disorders.[81]

During the 1960s and 1970s, as the beneficial effects of haloperidol (Haldol) on tics became known, the psychoanalytic approach to Tourette syndrome was questioned.[82] The turning point came in 1965, when Arthur K. Shapiro—described as "the father of modern tic disorder research"[83]—treated a Tourette’s patient with haloperidol, and published a paper criticizing the psychoanalytic approach.[81]

Since the 1990s, a more neutral view of Tourette's has emerged, in which biological vulnerability and adverse environmental events are seen to interact.[6][25] In 2000, the American Psychiatric Association published the DSM-IV-TR, revising the text of DSM-IV to no longer require that symptoms of tic disorders cause distress or impair functioning.[84]

Findings since 1999 have advanced TS science in the areas of genetics, neuroimaging, neurophysiology, and neuropathology. Questions remain regarding how best to classify Tourette syndrome, and how closely Tourette's is related to other movement disorders or psychiatric disorders. Good epidemiologic data is still lacking, and available treatments are not risk free and not always well tolerated.[85] High-profile media coverage focuses on treatments that do not have established safety or efficacy, such as deep brain stimulation, and alternative therapies involving unstudied efficacy and side effects are pursued by many parents.[39]

Society and culture

Samuel Johnson (1709–1784) circa 1772. Johnson had Tourette syndrome.

Not everyone with Tourette's wants treatment or a "cure", especially if that means they may "lose" something else in the process.[86][87] Some people believe that there may be latent advantages associated with genetic vulnerability to the syndrome.[87] There is evidence to support the clinical lore that children with "TS-only" (Tourette's in the absence of comorbid conditions) are unusually gifted: neuropsychological studies have identified advantages in children with TS-only.[30][88] One study found that children with TS-only are faster than the average for their age group on timed motor coordination.[89]

Notable individuals with Tourette syndrome are found in all walks of life, including musicians, athletes and authors. The best-known example of a person who may have used obsessive–compulsive traits to advantage is Dr Samuel Johnson, the 18th-century English man of letters, who had Tourette syndrome as clearly evidenced by the writings of James Boswell.[90][91] Johnson wrote A Dictionary of the English Language in 1747, and was a prolific writer, poet, and critic.

Although it has been speculated that Mozart had Tourette's,[92][93] no Tourette's expert or organization has presented credible evidence to show that this was the case,[93] and there are problems with the available data.[94]

The entertainment industry often depicts those with Tourette syndrome as social misfits whose only tic is coprolalia, which has furthered stigmatization and the public's misunderstanding of those with Tourette's.[95] The coprolalic symptoms of Tourette's are also fodder for radio and television talk shows in the US[96] and in the British media.[97]

Notes

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