Tourette syndrome

"Tourette's" redirects here. For the Nirvana song, see Tourette's (song).

Tourette syndrome
Specialty	Neurology

Tourette syndrome — also called Tourette's syndrome, Tourette's disorder, TS, or Gilles de la Tourette syndrome (GTS) — is a movement disorder with onset in childhood, and characterized by the presence of multiple motor tics and at least one phonic tic, which characteristically wax and wane. Tourette syndrome was once considered a rare and bizarre syndrome. It is no longer considered rare, but is often undetected because of the wide range of severity.

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

Symptoms

The hallmark of Tourette's syndrome are repetitive, involuntary movements and utterances that change often in number, frequency, severity, and anatomical location. The rapidly changing nature of tics in Tourette's is also referred to as waxing and waning. Tics can be thought of as fragments of normal motor and vocal movements and sounds that occur repetitively and semi-voluntarily.

Tics are classified in several ways: simple vs. complex, motor vs. phonic, and according to duration (transient tics, chronic tics, or Tourette's syndrome). Motor tics are movement-based tics affecting discrete muscle groups. Phonic tics are involuntary sounds produced by moving air through the nose, mouth, or throat. They may be alternately referred to as verbal tics, vocal tics, or phonic tics, but some diagnosticians prefer the term phonic tics, to reflect the notion that the vocal chords are not involved in all tics that produce sound. Simple motor tics are typically sudden, brief, meaningless movements, such as eye blinking or shoulder shrugging. Complex motor tics are typically more purposeful-appearing and of a longer nature. Motor tics can be of an endless variety and may include hand-clapping, neck stretching, and facial grimacing. Complex tics are rarely seen in the absence of simple tics. A simple phonic tic can be almost any possible sound or noise, with common vocal tics being throat clearing, coughing, sniffing, grunts, or moans. Complex vocal tics may fall into various categories, including echolalia (the urge to repeat words spoken by someone else after being heard by the person with the disorder), palilalia (the urge to repeat one's own previously spoken words), lexilalia (the urge to repeat words after reading them) and, most controversially, coprolalia (the spontaneous utterance of socially-objectionable or taboo words or phrases). However, according to the Tourette Syndrome Association, Inc. (TSA), only about 10% of TS patients exhibit coprolalia.

Tourette's syndrome is believed to occur along a spectrum of related tic disorders, which are thought to be due to the same genetic vulnerability. Further study is needed to clarify the nature of the relationship between the various tic disorders. Transient tic disorder consists of multiple motor and/or phonic tics with duration of less than 12 months. Chronic tic disorder is either multiple motor or phonic tics, but not both, which are present for more than a year. And Tourette's disorder is diagnosed when both motor and phonic tics are present for more than a year.

The tics of Tourette's, in contrast to the movements of some other movement disorders, are temporily suppressible and preceded by a premonitory urge. The tics of Tourette's have also been described as semi-voluntary or "unvoluntary", as they are experienced as a voluntary response to an involuntary, premonitory urge. Immediately preceding tic onset, individuals with TS experience the premonitory urge, which is similar to the need to sneeze or scratch an itch. The urge can be suppressed temporarily, but must ultimately be expressed. The control which can be exerted (from seconds to hours at a time) may merely postpone and exacerbate the ultimate expression of the tic. Children may be less aware of the premonitory urge associated with tics than are adults, but their awareness tends to increase with maturity. People with TS can suppress their tics to some extent for limited periods of time, but doing so often results in an explosion of tics afterward. Tics are experienced as irresistible and must eventually be expressed. People with TS often seek a secluded spot to release their symptoms after delaying them in school or at work. The ability to suppress tics varies among individuals, and may be more developed in adults than children.

Children with Tourette's may suffer socially if their tics are seen as weird or bizarre. It is common for children to suppress tics during a visit to the doctor or while at school. Typically, tics increase as a result of high energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement. Relaxation may result in a tic decrease, while concentration in an absorbing activity may lead to a decrease in tics. Neurologist and writer Oliver Sacks has described a man (Canadian Mort Doran, M.D., in real life, although a pseudonym was used in Sacks' book, The Man Who Mistook His Wife for a Hat) with severe TS, who is both a pilot and a surgeon, whose tics remit almost completely while he is performing surgery.

Tourette Syndrome patients may exhibit symptoms of other conditions along with their motor and phonic tics. Associated conditions include attention-deficit hyperactivity disorder (ADD and ADHD), Obsessive-Compulsive Disorder (OCD), learning disabilities and sleep disorders. [1] [2] There is widespread consensus among Tourette syndrome specialists that a subset of OCD is genetically linked to Tourette's, and that OCD may be an alternate expression of the same underlying genetic difference. The genetic relationship of ADHD to Tourette's syndrome is less clear, with some evidence to suggest no genetic linkage, and some evidence to suggest that some forms of Tourette's syndrome may be genetically related to ADHD. Not all persons with Tourette's syndrome will have ADHD or OCD, although in clinical populations, a high percentage of patients presenting for care do have ADHD. The high co-occurrence of ADHD observed in tertiary, referred populations may be an artifact of clinical ascertainment bias. Further study is needed to elucidate the genetic relationship between ADHD and Tourette's.

Diagnosis

According to the DSM-IV-TR, [3] TS is indicated 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 1 year, with no more than 3 consecutive tic-free months. Previous versions of the DSM included a requirement for distress or impairment in social, occupational, or other important areas of functioning, but this requirement has been removed from the most recent version of the DSM, in recognition that not everyone with the diagnosis has distress or impairment to functioning. The onset must have been before the age of 18, and cannot be attributed to the use of a substance or another medical condition. Hence, other medical conditions which include tics or tic-like movements (such as autism) must be ruled out before conferring a Tourette's diagnosis. Standard neurological examination is usually normal in Tourette's syndrome patients.

Although there is no such thing as a "typical" case, and each individual is different, Tourette's syndrome follows a fairly typical and reliable course in terms of age of onset and highest severity. The most typical age on onset is six or seven, with the most common first-presenting tics being eye blinking, facial movements, and throat clearing. Tics most frequently present initially in midline body regions where there are many muscles: the head, neck and facial region. The average ages of highest tic severity are 8 to 12, mean 10, with tics steadily declining for most patients as they pass through adolescence.

There are no medical or screening tests which can be used in diagnosing Tourette's disorder. It is a diagnosis made based on a history of symptoms, and after ruling out other conditions which can include tics. If a physician believes that there may be another condition present which could explain tics, some tests may be ordered, only to rule out those other conditions. An example of this would be when diagnostic confusion between tics and seizure activity exists, which would call for an EEG, or if there are signs that an MRI is warranted to rule out a brain tumor. However, most cases are diagnosed by merely observing a history of tics, and medical tests are not often called for. The differential diagnosis for other conditions which result in tics includes developmental disorders such as autism spectrum disorders and Stereotypic Movement Disorder; other genetic conditions such as Huntington's disease, Neuroacanthocytosis, Hallervorden-Spatz disease, Idiopathic dystonia, Duchenne's disease, Tuberous sclerosis, Chromosomal disorders, Down syndrome, Klinefelter's syndrome, XYY karyotype, and Fragile X syndrome; Wilson's disease or Syndenham's chorea; and secondary or acquired causes of tics, such as drug-induced tics, head trauma, encephalitis, stroke, and carbon monoxide poisoning. Secondary causes of tics (not related to inherited Tourette's syndrome) are commonly referred to as tourettism. Most of these conditions are rare, and many physicians well-versed in the treatment of Tourette's are comfortable conferring a diagnosis based on history, and without a lot of medical or screening tests.

It was previously believed that Tourette's syndrome was a rare disorder, with about 4 or 5 people in 10,000 having Tourette's Syndrome. However, multiple studies published since 2000 demonstrate that the prevalence is much higher than previously thought, and that Tourette's syndrome can no longer be considered rare. Contemporary prevalence estimates range from 1 to 3 per 1,000 (Scahill et al, Advances in Neurology, 2001) to 10 per 1,000 (Kadesjo et al, J Amer Acad Child Adolesc Psychiatry, 2000). It is estimated that as many as 1 in 200 people experience some form of tic disorder, which includes transient tics, chronic tics, or Tourette's Syndrome. [4] Males are affected 3 to 4 times more often than females. The disorder is frequently misdiagnosed or underdiagnosed, partly because of the wide expression of severity, ranging from mild to moderate (the majority of cases) to severe (the rare, but more widely-recognized and publicized cases). Prevalence rates in pediatric populations are higher than those in adult populations, as the tics of Tourette's syndrome tend to remit or subside as one passes through adolescence, such that a diagnosis may no longer be warranted for many adults.

Prognosis

Tourette's syndrome is a spectrum disorder, which means that the severity of the condition can range widely. Those with mild cases are often minimally impacted by symptoms, to the extent that casual observers might not know of their condition. Severe cases (which are the rare minority in adulthood) can inhibit or prevent the individual from engaging in common activities such as holding a job, having a fulfilling social life, or maintaining his/her basic needs.

Multiple 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 brought to diagnostic awareness, and often improve with understanding of the condition. The statistical age of highest tic severity is typically between 8 and 12, with most individuals experiencing steadily declining tic severity as they pass through adolescence. The same studies have shown no correlation with tic severity and the onset of puberty. In many cases, complete remission of tic symptoms occurs after adolescence. [5] [6] [7] Regardless of symptoms, individuals with TS can expect to live a normal life span. Although TS symptoms may be lifelong and chronic for some, it is not a degenerative condition and is not life-threatening.

Living with TS, with a supportive environment and family, generally gives one skills to manage the disorder. Many persons with Tourette's syndrome learn to cover or camouflage socially inappropriate tics or use them to their advantage - such as in the case of musicians. Some drummers, in particular, have found that tics give them a certain 'flair' or 'special sound' to their drumming.

Treatment

Knowledge and understanding are the best treatments available for tics. There are no medications specifically designed to target the tics of Tourette's, none of the medications used are effective for all patients, and most available medications are associated with adverse side effects. The majority of people with TS require no medication, but medication is available to help when symptoms interfere with functioning. Pharmaceutical intervention should be targeted at the most impairing symptoms, taking into account co-occurring conditions such as ADHD or OCD, which when present, may warrant treatment even when tics are mild. The classes of medications with the most proven efficacy in treating tics -- typical and atypical neuroleptics -- can have long- and short-term adverse effects. The antihypertensive agents, clonidine (Catapres®) and guanfacine (Tenex®), are also used to treat tics. Stimulants and other medications may be useful in treating ADHD when it co-occurs with tic disorders. Current prescribed stimulant medications include: methylphenidate (Ritalin®, Metadate®, Concerta®), dextroamphetamine (Dexedrine®), and mixed amphetamine salts (Adderall®). Drugs from several other classes of medications can be used as alternatives when stimulant trials fail. These include the alpha-2 agonists (clonidine and guanfacine), tricyclic antidepressants (desipramine and nortriptyline), and newer antidepressants (bupropion, venlafaxine and atomoxetine). Clomipramine, a tricyclic antidepressant, and SSRIs, a class of antidepressants, may be prescribed when a TS patient also has symptoms of OCD.

Cognitive Behavioral Therapy (CBT) is a useful treatment when OCD is present, and there is increasing evidence supporting the use of habit reversal in the treatment of tics. Relaxation techniques may also be useful in relieving the stress that may aggravate tics.

Neuroleptic medications

Neuroleptic (anti-psychotic) medications, such as haloperidol (brand name Haldol®) or pimozide (brand name Orap®), have historically been and continue to be the medications with the most proven efficacy in controlling tics. These medications work by blocking dopamine receptors. However, these drugs are associated with a high adverse effects profile. The traditional antipsychotic drugs are associated with tardive dyskinesia when used long-term, and parkinsonism, dystonia, dyskinesia, and akathesia when used short-term. Additional side effects can be school phobia, depression, weight gain, and cognitive blunting.

Newer neuroleptics, the atypical antipsychotics are an alternative to the traditional medications used for treating tics. The medications in this class used to treat tics include risperidone (brand name Risperdal®), olanzapine (brand name Zyprexa®), ziprasidone (brand name Zeldox®), quetiapine (brand name Seroquel®), and clozapine (brand name Clozaril®). They seem to have lower risks of neurological side effects (such as tardive dyskenisia) when used short-term, but longer trials are needed to confirm this. Some of the side effects associated with these medications are insomnia, weight gain, and school phobia. Abnormalities in metabolism, cardiac conduction times, and increased risk of diabetes are concerns with these medications.

Alpha-2 Agonists

The alpha-2-adrenergic receptor agonists (antihypertensive agents) show some efficacy in reducing tics, as well as other comorbid features of some people with Tourette's. The evidence for their safety and efficacy is not as strong as the evidence for some of the standard and atypical neuroleptics, but there is good supportive evidence for their use, nonetheless. This class of medication is often the first tried for tics, as they have a lower side effect profile than some of the medications which more proven efficacy. Clonidine (brand name Catapres®) works for about a third of people with TS. Guanfacine (brand name Tenex®) is another antihypertensive that is used in treating TS. Originally developed to treat high blood pressure, these medications could be a safer alternative to neuroleptic medications for the people with TS that respond to them. Side effects can include sedation, dry mouth, fatigue, headaches and dizziness. Sedation can be problematic when treatment is first initiated, but may wear off as the patient adjusts to the medication. This class of medication takes about six weeks to begin to work on tics, so sustained trials are warranted. Because of the blood pressure effects, antihypertensive agents should not be discontinued suddenly.

Nicotine

Researchers investigated the use of nicotine patches as a treatment. Nicotine showed preliminary promise in case reports, but these effects were not reproduced in well-controlled trials several years later. [8] Studies of nicotine derivatives (mecamylamine, inversine) also showed that they were not effective as monotherapy for the symptoms of Tourette's. [9] Researchers are seeking a substitute that can target brain disorders in the same way, without the risks. (BBC News)

Marijuana

Some people with Tourette's syndrome report that marijuana helps reduce tics. Little research has been done on smoked marijuana. A study of three case reports found that marijuana helped reduce tics, although authors cautioned that subjects may have been reporting a reduction in anxiety rather than tics. [10] In an unblinded, uncontrolled study, researchers interviewed 13 people with TS and found that 85% of them reported that marijuana caused a marked improvement in their symptoms.[11] Longer-term controlled studies on larger samples are needed to validate results.

Marinol

Dronabinol, synthetic THC sold in pill form (brand name Marinol®), has shown some promise in treating Tourette's syndrome. Animal studies suggested that Marinol® and nicotine can be used as an effective adjunct to neuroleptic drugs in treating TS. [12] Studies funded by the TSA and conducted in Germany showed promise for Marinol® treatment for TS. Research on twelve patients showed that Marinol® reduced tics with no significant adverse effects.[13] A six-week controlled study on 24 patients showed the patients taking Marinol® had a significant reduction in their tic severity and Marinol® did not cause serious adverse effects, although seven of the 24 patients had to drop out of or were excluded from the study. The longer TS patients took the Marinol®, the more significant the reduction in their tic severity became.[14] The 6-week study also examined cognitive functioning in subjects with TS taking Marinol®. The study found no detrimental effects on cognition, and a trend towards improvement during and after treatment.[15] Larger and longer-duration controlled studies were recommended by the study authors. Marinol's usefulness as a treatment for TS cannot be determined until/unless larger and longer studies are undertaken.

Deep Brain Stimulation

In February 2004, surgeons in the US successfully carried out a brain surgery in which tiny electrodes, powered by batteries inserted in the chest, were placed beside the thalamus in each cerebral hemisphere. Within half a minute of activating the electrodes, the patient could walk normally and displayed a complete lack of symptoms. This surgery is not a cure; it is regarded as an experimental and dangerous procedure, and is unlikely to become widespread. TSA There may be serious short- and long-term risks associated with DBS; the procedure is expensive and requires long-term expert care; benefits for severe Tourette's are not conclusive considering less robust effects of this surgery seen in the Netherlands; Tourette's is more common in pediatric populations and tends to remit in adulthood, so this would not be a recommended procedure to use on children; and how to use this procedure in Tourette's syndrome patients, is less clear than its usage in Parkinson's disease.

Genetics

Genetic studies indicate tic disorders, including TS, are inherited as a dominant gene(s) that may produce varying symptoms in different family members. Tourette Syndrome is thought to be polygenic (the result of several genes), although the gene(s) have not yet been identified. It is also a condition of variable penetrance, meaning even family members with the same genetic makeup may show different levels of symptom severity. Non-genetic, environmental factors do not cause Tourette's, but they can impact upon the expression of the severity of the disorder. As one example of non-genetic factors, twin studies have shown that the lower birth weight twin is the one more likely to display more symptoms.

A person with TS has about a 50% chance of passing the gene(s) to one of his/her children. However, the gene(s) may express as TS, as a milder tic disorder, or as obsessive compulsive symptoms with no tics at all. It is known that a higher than usual incidence of milder tic disorders and obsessive compulsive behaviors are more common in the families of TS patients. The sex of the child also influences the expression of the gene(s). The chance that the child of a person with TS will have the disorder is at least three times higher for a son than for a daughter. Yet only a minority of the children who inherit the gene(s) will have symptoms severe enough to ever require medical attention.

In some cases, tics may not be inherited; these cases are identified as "sporadic" TS (also known as tourettism) because a genetic link is missing.

Recent research by Doctor Matthew State at Yale University suggests that a small number of Tourette Syndrome cases may be caused by an inversion defect on chromosome 13 of gene SLITRK1. Some cases of tourettism (tics due to reasons other than inherited Tourette's syndrome) can be caused by mutation. [16] The finding of a chromosomal abnormality appears to apply to a very small minority of cases (1 - 2%), and studies to locate all of the genes implicated in Tourette's syndrome are ongoing. [17]

Famous people with Tourette's

• Mahmoud Abdul-Rauf (formerly Chris Jackson) - former NBA player.
• Jim Eisenreich - former major league baseball player.
• Tim Howard - goalkeeper for Manchester United Football Club.
• Dr. Samuel Johnson, lexicographer, certainly had Tourette Syndrome as evidenced by the writings of James Boswell.
• Mike Johnston - relief pitcher for the Pittsburgh Pirates.
• Andre Malraux - French author, adventurer and statesman.
• Tobias Picker - composer
• Jeremy Stenberg - Motocross rider (nicknamed "Twitch")
• Michael Wolff - Jazz musician.

• Benjamin Simkin, M.D., an endocrinologist, put forth an argument in his book, Medical and Musical Byways of Mozartiana, that Mozart may have had Tourette Syndrome.[18] [19] Tourette syndrome experts and neurologists disagree. [20][21][22]

References in the entertainment industry

The entertainment industry has often depicted those with TS as being social misfits whose only tic is coprolalia (the involuntary utterance of inappropriate or taboo phrases), which has led to the general public's misunderstanding of persons with Tourette's as "people who can't help yelling swear words a lot". However, this is merely a clinomorphism, as coprolalia is a relatively rare symptom compared to other types of tics, and severe Tourette's in adulthood is rare. Talk shows, like Dr. Phil, have furthered this stigmatization, focusing on rare and sensational aspects of the condition. An infamous incident of disinformation about coprolalia and Tourette's involved Dr. Laura Schlessinger.

In documentary

• HBO has produced an acclaimed documentary, "I Have Tourette's but Tourette's Doesn't Have Me," featuring children between the ages of 6-13, and addressing what it's like to grow up with Tourette's syndrome. [23]

• "John's not Mad" - A documentary about the daily life of a Scottish teenager who suffers from an extreme case of Tourette's Syndrome and coprolalia.

• "What Made Mozart Tic" - A documentary by musician/composer and Tourette's Syndrome sufferer James McConnel which argues that Mozart had Tourette's Syndrome.[24]

In fiction

• An episode of the television show Quincy, M.E. has Quincy arguing with the drug companies, lawyers and the Food and Drug Administration to promote research into the syndrome. This was a seminal moment in the history of Tourette's, as it led to many people who didn't know what they had was Tourette's getting a name for their symptoms.
• The Tic Code stars Gregory Hines as a saxophone player with TS who befriends a 10 year old boy who wants to be a jazz pianist (and also has TS). Written by Polly Draper, and produced with her husband Michael Wolff who has Tourette's in real life.
• Matchstick Men's protagonist (Nicolas Cage) is a neurotic con artist with Tourette's and OCD.
• In Niagara, Niagara, Robin Tunney plays a unconventional girl with TS who goes on a road trip with a guy she meets in a drugstore.
• In Wedding Crashers, John Beckwith (Owen Wilson) excuses Jeremy Grey's (Vince Vaughn) cursing at a wedding as a case of Tourette's.
• In The Wedding Singer, when Adam Sandler's character states that his nephew "...might have Tourette's, we're looking into it" after the aformentioned young nephew walks up to his Adam's finacee and says "Linda, you're a bitch"
• In Curb Your Enthusiasm, Season 3, Episode 10, "The Grand Opening", with only days until the opening of his new Restaurant, Larry hires a new chef with Tourette's syndrome
• In Not Another Teen Movie, a girl who tries out for the cheerleading squad has Tourette's.
• In The Big White, the wife has Tourette syndrome.
• In Deuce Bigalow: Male Gigolo, one of Deuce's (Rob Schneider) crazy dates is a character with Tourette Syndrome who continuously yells curse words to people on the street.
• In What About Bob, Bob (Bill Murray) pretends to have Tourette Syndrome
• In The New Guy, Dizzy Harrison / Gil Harris (DJ Qualls) has tourette syndrome.
• In Dirty Filthy Love, tells the story of Mark Furness (Michael Sheen) with Obsessive Compulsive Disorder (OCD) and Tourette's negotiating his way through divorce, his best friend's matchmaking efforts and a woman who introduces him to therapy, filth and unconditional love.
• In The Simpsons, Season 4, Episode 7, "Marge Gets a Job", Ms Krabappel is recounting all the diseases and illnesses Bart has claimed to have to excuse himself for a test. The last excuse she says "and that unfortunate case of Tourette's Syndrome" to which Bart tries to pretend he still might have it by cursing and rambling. The mention of Tourette's caused many complaints upon the episode airing and the line was changed to "and that unfortunate case of Rabies". It has been claimed that the syndicated version was changed back to the original line but the episode on The Simpsons DVDs season 4 set retained the rabies line.
• Marty Fisher in Shameless has Tourette's.
• The main character, and narrator, of the novel Motherless Brooklyn by Jonathan Lethem has Tourette syndrome.
• Ron Silver's character in episode 7x12 of the The West Wing claims Josh Lyman, "has the political equivalent of Tourette's Syndrome."

On the Internet

• Hiding Tics to Gain Friends CBS News
• Documentary looks at Tourette's Syndrome News 10 Now
• Living with Tourette Syndrome The Insider

In music

• The grunge band Nirvana recorded a song on the In Utero album titled "tourette's"—a song with the lyrics intensely shouted rather than sung, perhaps to mimic the syndrome.

• UK Britpop band Manic Street Preachers recorded a song on the Gold Against The Soul album titled "Symphony Of Tourette", the lyric being sung from the perspective of a person with Tourette's. The album sleeve also contains a brief description of the condition and its symptoms following the lyrics for the song.

In upcoming films

• Oscar-winning actor Edward Norton announced that he was going to write, direct and star in a film adaptation of Motherless Brooklyn in 1999 right before Fight Club was released.[25] As of January 2006, the movie has not even started filming.[26] In May 2005 Norton said he was "almost finished" writing the screenplay and the movie "might" be made in 2006.[27]

External links

• The Tourette Syndrome Association, Inc. - A New York based advocacy group.
• The Tourette Syndrome (UK) Association - A UK advocacy group.
• Tourette Syndrome Association of Australia - An AU advocacy group.
• Tourette Syndrome Foundation of Canada - A Canadian advocacy group.
• Tourette Scotland - A Scottish support & information group.
• Tourette Syndrome Plus - A website on Tourette Syndrome plus comorbid conditions.
• Tourette's Syndrome: minimizing confusion - A Tourette's Syndrome blog written by Roger D. Freeman, M.D.
• Tourette Spectrum Disorder Association, Inc A US advocacy group for Tourette Syndrome and co-occurring conditions.