Tourette Syndrome

Ronan O’Brien

Page 1 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
Gilles de La Tourette
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.

Page 2 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.

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

Fig 3. Interrelationship of other
conditions with Tourettes
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.

Page 4 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
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.

Page 6 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.

Page 7 of 10
Fig 3. Benjamin Stone’s comic of his life with Tourettes

Page 8 of 10
Fig 4. Benjamin Stone’s comic of his life with Tourettes

Page 9 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

Page 10 of 10