tourette syndrome handout

Tourette Syndrome

Ronan O’Brien

of 10

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.

Gilles de La Tourette

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.

of 10

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.

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.

Fig 3. Interrelationship of other

conditions with Tourettes

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.

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.

of 10

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

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.

of 10

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.

of 10

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

of 10

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

of 10

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]tsa.org.uk

Accessed 21th March 2007

Wikipedia. Tourettes Syndrome.

[www]en.wikipedia.org/wiki/Tourette_syndrome

Accessed 22nd March 2007

Benjamin Stone online Journal

benchilada.livejournal.com

Accessed 28th March 2007

of 10

tourette syndrome handout

Documents