Tourette Syndrome

Ronan O’Brien

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Introduction Tourette Syndrome is a recognised medical condition, which is often inherited, but without a specific known cause. There are treatments, but there is no cure as with many chronic medical conditions. It is a very complex condition and can be described - with equal accuracy - as a movement disorder, and neurological condition, or a neuro-psychiatric condition. TS affects all aspects of life - education, relationships, employability. 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. Tourette's is no longer considered a rare condition, but it may not always be correctly identified because most cases are classified as mild. History A French doctor, Jean Marc Gaspard Itard, reported the first case of Tourette syndrome in 1825. In 1860 Brutus Gilles de la Tourette, a French physician and neurologist, performed a study of patients at the Salpêtrière Hospital, with the goal of defining an illness distinct from hysteria and from chorea. In 1885, he published an account of nine patients, Study of a Nervous Affliction, concluding that a new clinical category should be defined which was subsequently named Tourettes Syndrome. 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 Dr. 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.
Gilles de La Tourette

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Since the 1990s, a more neutral view of Tourette's has emerged, in which biological vulnerability and adverse environmental events are seen to interact. 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. Types of Tourettes TS can be classified into roughly 3 types, corresponding to 3 levels of severity and complexity.

Fig 1. Classifications of Tourettes Syndrome

Incidence Tourette syndrome has historically been described as a rare disorder, with about 5 to 10 people in 10,000 having the condition. However, multiple studies published since 2000 demonstrate that the prevalence is much higher than previously thought, and that Tourette syndrome can no longer be considered rare. Contemporary prevalence estimates range from 1 to 3 per 1,000 to 10 per 1,000. Page 3 of 10

In the UK, a large, community-based study suggested that over 19% of school-age children have tics, with almost 4% of children in regular education fulfilling the diagnostic criteria for Tourette syndrome. The children with tic disorders in that study were usually undiagnosed. As many as 1 in 100 people may experience some form of tic disorder, which includes transient tics, chronic tics, or Tourette syndrome. Tourette syndrome is found among all social, racial and ethnic groups, and males are affected 3 to 4 times more often than females. Inheritance 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. 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. 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,
Fig 3. Interrelationship of other conditions with Tourettes

however, has not been fully established.

Diagnosis For TS to be diagnosed, multiple motor tics and at least one vocal tic must be present over a period of at least 12 months, without a break of more than 3 months.

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Causation The exact cause of Tourette's is unknown, but it is well established that both genetic and environmental factors are involved. It appears from a physiological point of view that the abnormal processing of the neurotransmitters dopamine and serotonin are involved. Genetic studies have proved 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. It has also been suggested that streptococcal throat infections can trigger off TS in some people but this is controversial. Characteristics The symptoms of TS are tics, repeated movements and sounds. It is important to understand that these are chronic and involuntary. Someone with TS may be able to suppress them for a period but eventually they have to let the tics out. 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. These changes are completely unpredictable and the person with TS has no control over them.

Fig 2. Exacerbating-remitting history of TS and associated conditions

Tics usually start in childhood around the age of 7 and are likely to persist throughout life, though the symptoms often decrease towards the end of adolescence. 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 Page 5 of 10

diagnosis of Tourette's. According to the Tourette Syndrome Association, fewer than 10% of Tourette's patients exhibit coprolalia. Echolalia (repeating the words of others) and Palilalia (repeating one's own words) occur in a minority of cases, while the most common initial motor and vocal tics are, respectively, eye blinking and throat clearing. Tics are temporarily suppressible and preceded by a premonitory urge. Immediately preceding tic onset, most individuals with Tourette's are aware of an urge that is similar to the need to sneeze or scratch an itch. Individuals describe the need to tic as a build up of tension which they consciously choose to release, as if they "had to do it". 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". Treatment and management It is important to treat TS early, especially when the symptoms seem bizarre, disruptive and frightening. Tics can provoke ridicule and rejection by other children, neighbours, teachers and the general public. The child may be bullied, excluded from activities and prevented from enjoying normal relationships. Most cases of Tourette's are mild, and do not require pharmacological treatment; instead, psychotherapy, education, and reassurance may be sufficient. The use of relaxation techniques can alleviate stress that would otherwise make tics worse. 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.

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The Future Research on TS has increased in recent years. Findings since 1999 have advanced TS science in the areas of genetics, neuro-imaging, neurophysiology, and neuropathology.

Fig4. Annual research papers published on Tourette Syndrome

Recent findings raise the possibility that sex hormones may mediate the abnormal development of specific brain regions, particularly the basal ganglia and limbic system, resulting in TS. Questions remain regarding how best to classify Tourette syndrome, and how closely Tourette's is related to other movement disorders or psychiatric disorders.

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Fig 3. Benjamin Stone’s comic of his life with Tourettes

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Fig 4. Benjamin Stone’s comic of his life with Tourettes

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References Walkup, JT, Mink, JW, Hollenback, PJ, (eds). Advances in neurology, Vol. 99, Tourette syndrome. Lippincott, Williams & Wilkins, Philadelphia, PA, 2006. Kurlan R: Future direction of research in Tourette syndrome. Neurol Clin 1997 May;15(2): 451-6 Tourette Syndrome Association. Tourette Syndrome: About TS [www] Accessed 21th March 2007 Wikipedia. Tourettes Syndrome. [www] Accessed 22nd March 2007 Benjamin Stone online Journal Accessed 28th March 2007

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