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 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), but this symptom is present in only a small minority of people with Tourette's. 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; as many as 10 per 1,000 people may have tic disorders, with the more common tics of eye blinking, coughing, throat clearing, sniffing, and facial movements. Tourette's does not adversely affect intelligence or life expectancy . 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.
Genetic and environmental factors 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; education is an important part of any treatment plan.
The eponym was bestowed by Jean-Martin Charcot (1825–1893) 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.
Classification
Tics are sudden, repetitive, stereotyped, nonrhythmic movements (motor tics) and utterances (phonic tics) that involve discrete muscle groups. 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. Tic disorders are defined similarly by the World Health Organization (International Statistical Classification of Diseases and Related Health Problems, ICD-10 codes).
Although Tourette's is the more severe expression of the spectrum of tic disorders, most cases are mild. The severity of symptoms varies widely among people with Tourette's, and mild cases may be undetected. having the appearance of "normal behaviors gone wrong". The tics associated with Tourette's 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. Echolalia (repeating the words of others) and palilalia (repeating one's own words) occur in a minority of cases,
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. Immediately preceding tic onset, most individuals with Tourette's are aware of an urge, similar to the need to sneeze or scratch an itch. Individuals describe the need to tic as a buildup of tension, pressure, or energy which they consciously choose to release, as if they "had to do it" to relieve the sensation
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. 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, 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. 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. 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. Another author reports that 57% of 656 patients presenting with tic disorders had uncomplicated tics, while 43% had tics plus comorbid conditions. 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, and no gene has been identified. In other cases, tics are associated with disorders other than Tourette's, a phenomenon known as tourettism.
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. 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. Gender appears to have a role in the expression of the genetic vulnerability: males are more likely than females to express tics. Children who meet five diagnostic criteria are classified, according to the hypothesis, as having Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS). This contentious hypothesis is the focus of clinical and laboratory research, but remains unproven.
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.
Some forms of OCD may be genetically linked to Tourette's. 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. The genetic relationship of ADHD to Tourette syndrome, however, has not been fully established. 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". 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). TSH levels can be measured to rule out hypothyroidism, which can be a cause of tics. Brain imaging studies are not usually warranted. and stereotypic movement disorder; 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. 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. Disruption from tics is commonly overshadowed by comorbid conditions that present greater interference to the child. 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.
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. Risperdal), ziprasidone (Geodon), haloperidol (Haldol), pimozide (Orap) and fluphenazine (Prolixin)—can have long-term and short-term adverse effects. and there is increasing evidence supporting the use of habit reversal in the treatment of tics. 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.
Prognosis
(1901–1976) was a French author, adventurer and Minister of Culture who had Tourette syndrome.
President Kennedy, Marie-Madeleine Lioux, 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.]]
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. 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.
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. 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.]]
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. 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. 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. as many as 1 in 100 people experience tic disorders, including chronic tics and transient tics in childhood.
Tourette's is associated with several comorbid conditions, or co-occurring diagnoses, which are often the major source of impairment for an affected child. 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. 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. and a 1973 registry reported only 485 cases worldwide. However, multiple studies published since 2000 have consistently demonstrated that the prevalence is much higher than previously thought. 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. 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. Children with milder symptoms are unlikely to be referred to specialty clinics, so these studies have an inherent bias towards more severe cases. 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; approximately 20% of persons with Tourette syndrome do not recognize that they have tics. As the diagnostic threshold and assessment methodology have moved towards recognition of milder cases, the result is an increase in estimated prevalence. A French doctor, Jean Marc Gaspard Itard, reported the first case of Tourette syndrome in 1825, describing Marquise de Dampierre, an important woman of nobility in her time. The eponym was later bestowed by Charcot after and on behalf of Gilles de la Tourette.
Little progress was made over the next century in explaining or treating tics, and a psychogenic view prevailed well into the 20th century.
During the 1960s and 1970s, as the beneficial effects of haloperidol (Haldol) on tics became known, the psychoanalytic approach to Tourette syndrome was questioned. The turning point came in 1965, when Arthur K. Shapiro—described as "the father of modern tic disorder research"—treated a Tourette’s patient with haloperidol, and published a paper criticizing the psychoanalytic approach.
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. 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. Some people believe that there may be latent advantages associated with genetic vulnerability to the syndrome. One study found that children with TS-only are faster than the average for their age group on timed tests of motor coordination.
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 Samuel Johnson, the 18th-century English man of letters, who likely had Tourette syndrome as evidenced by the writings of James Boswell. 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, no Tourette's expert or organization has presented credible evidence to support such a conclusion,
The entertainment industry has been criticized for depicting 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. The coprolalic symptoms of Tourette's are also fodder for radio and television talk shows in the US and in the British media.
Notes
References
Further reading
Kushner, HI. A cursing brain?: The histories of Tourette syndrome. Harvard University Press, 2000. ISBN 0-674-00386-1.
Olson, S.
"Making Sense of Tourette's" (PDF).
Science. 2004 Sep 3;305(5689):1390–92. PMID 15353772
External links
—Organizations
Tourette's Syndrome: minimizing confusion—a blog by Roger Freeman, MD, clinical head of the Neuropsychiatry Clinic, British Columbia's Children's Hospital, professional advisory board member of the Tourette Syndrome Foundation of Canada, and former member of the Tourette Syndrome Association Medical Advisory Board. Dr. Freeman has over 180 journal-published articles on PubMed.
Tourette syndrome: Newly diagnosed—a 3-hour video/slide presentation by John Walkup, MD, deputy director of the Division of Child and Adolescent Psychiatry, Johns Hopkins Hospital and 2007 Chair of the Tourette Syndrome Association Medical Advisory Board
Category:Childhood psychiatric disorders
Category:Genetic disorders by system
Category:Neurological disorders
Category:Syndromes
![Pedro Eliezer Rodríguez Ledesma (Spanish pronunciation: [ˈpeðɾo roˈðɾiɣeθ leˈðezma]; born 28 July 1987), commonly known as Pedro or Pedrito, is a Spanish footballer who plays for FC Barcelona and the Spanish national team. Naturally left-footed, he plays as either a forward or winger, the ambidextrous nature of his game meaning he can play on either side of the pitch. He is excellent at finding the right position and has a powerful shot, most notably from long range.[1]](http://web.archive.org./web/20110616231455im_/http://cdn.wn.com/pd/b9/dd/327ae4b89ccced076aa82666af02_grande.jpg "Pedro Eliezer Rodríguez Ledesma (Spanish pronunciation: [ˈpeðɾo roˈðɾiɣeθ leˈðezma]; born 28 July 1987), commonly known as Pedro or Pedrito, is a Spanish footballer who plays for FC Barcelona and the Spanish national team. Naturally left-footed, he plays as either a forward or winger, the ambidextrous nature of his game meaning he can play on either side of the pitch. He is excellent at finding the right position and has a powerful shot, most notably from long range.[1]")
![Pedro Eliezer Rodríguez Ledesma (Spanish pronunciation: [ˈpeðɾo roˈðɾiɣeθ leˈðezma]; born 28 July 1987), commonly known as Pedro or Pedrito, is a Spanish footballer who plays for FC Barcelona and the Spanish national team. Naturally left-footed, he plays as either a forward or winger, the ambidextrous nature of his game meaning he can play on either side of the pitch. He is excellent at finding the right position and has a powerful shot, most notably from long range.[1]](http://web.archive.org./web/20110616231455im_/http://cdn.wn.com/pd/b9/dd/327ae4b89ccced076aa82666af02_thumb.jpg "Pedro Eliezer Rodríguez Ledesma (Spanish pronunciation: [ˈpeðɾo roˈðɾiɣeθ leˈðezma]; born 28 July 1987), commonly known as Pedro or Pedrito, is a Spanish footballer who plays for FC Barcelona and the Spanish national team. Naturally left-footed, he plays as either a forward or winger, the ambidextrous nature of his game meaning he can play on either side of the pitch. He is excellent at finding the right position and has a powerful shot, most notably from long range.[1]")
