tourettes, touretts, terrets, terets, turettes, syndrom
Tourette syndrome
(TS) is an inherited, neurological disorder characterized by multiple
involuntary movements and uncontrollable vocalizations called tics that
come and go over years. In a few cases, such tics can include
inappropriate words and phrases.
The disorder is named for Dr. Georges Gilles de la Tourette, the
pioneering French neurologist who first described an 86-year-old French
noblewoman with the condition in 1885.
The symptoms of Tourette Syndrome generally appear before the individual is 18 years
old. Tourette Syndrome can affect people of all ethnic groups; males are affected 3 to 4
times more often than females. It is estimated that 100,000 Americans have
full-blown Tourette Syndrome, and that perhaps as many as 1 in 200 show a partial
expression of the disorder, such as chronic multiple tics or transient
childhood tics.
The natural course of Tourette Syndrome varies from patient to patient. Although
symptoms range from very mild to quite severe, the majority of cases fall
in the mild category.
The first symptoms of are usually facial tics--commonly eye
blinking. However, facial tics can also include nose twitching or
grimaces. With time, other motor tics may appear such as head jerking,
neck stretching, foot stamping, or body twisting and bending.
Tourette Syndrome patients may utter strange and unacceptable sounds, words, or
phrases. It is not uncommon for a person with TS to continuously clear his
or her throat, cough, sniff, grunt, yelp, bark, or shout.
People with Tourette Syndrome may involuntarily shout obscenities (coprolalia) or
constantly repeat the words of other people (echolalia). They may touch
other people excessively or repeat actions obsessively and unnecessarily.
A few patients with severe Tourette Syndrome demonstrate self-harming behaviors such as
lip and cheek biting and head banging against hard objects. However, these
behaviors are extremely rare.
Tics alternately increase and decrease in severity, and periodically
change in number, frequency, type, and location. Symptoms may subside for
weeks or months at a time and later recur.
There are two categories of tics: simple and complex. Simple tics are
sudden, brief movements that involve a limited number of muscle groups.
They occur in a single or isolated fashion and are often repetitive. Some
of the more common examples of simple tics include eye blinking, shoulder
shrugging, facial grimacing, head jerking, yelping, and sniffing. Complex
tics are distinct, coordinated patterns of successive movements involving
several muscle groups. Complex tics might include jumping, smelling
objects, touching the nose, touching other people, coprolalia, echolalia,
or self-harming behaviors.
People with Tourette Syndrome can sometimes suppress their tics for a short time, but
the effort is similar to that of holding back a sneeze. Eventually tension
mounts to the point where the tic escapes. Tics worsen in stressful
situations; however they improve when the person is relaxed or absorbed in
an activity. In most cases tics decrease markedly during sleep.
Although the basic cause of Tourette Syndrome is unknown, current research suggests
that there is an abnormality in the gene(s) affecting the brain's
metabolism of neurotransmitters such as dopamine, serotonin, and
norepinephrine. Neurotransmitters are chemicals in the brain that carry
signals from one nerve cell to another.
Not all people with Tourette Syndrome have disorders other than tics. However, many
people experience additional problems such as obsessive compulsive
behavior, characterized by an intense need to act repeatedly, such as hand
washing or checking that a door is locked; attention deficit-hyperactivity
disorder, characterized by difficulty concentrating and staying on task;
learning disabilities, which include reading, writing, and arithmetic
difficulties; or sleep disorders, which include frequent awakenings or
talking in one's sleep.
The wide range of behavioral symptoms that can accompany tics may, in
fact, be more disabling than the tics themselves. Patients, families, and
physicians need to determine which set of symptoms is most disabling so
that appropriate medications and therapies can be selected.
Generally, Tourette Syndrome is diagnosed by obtaining a description of the tics and
evaluating family history. For a diagnosis of TS to be made, both motor
and phonic tics must be present for at least 1 year. Neuroimaging studies,
such as magnetic resonance imaging (MRI), computerized tomography (CT),
and electroencephalogram (EEG) scans, or certain blood tests may be used
to rule out other conditions that might be confused with Tourette Syndrome . However, TS
is a clinical diagnosis. There are no blood tests or other laboratory
tests that definitively diagnose the disorder.
Studies show that correct diagnosis of Tourette Syndrome is frequently delayed after
the start of symptoms because many physicians may not be familiar with the
disorder. The behavioral symptoms and tics are easily misinterpreted,
often causing children with Tourette Syndrome to be misunderstood at school, at home, and
even in the doctor's office. Parents, relatives, and peers who are
unfamiliar with the disorder may incorrectly attribute the tics and other
symptoms to psychological problems, thereby increasing the social
isolation of those with the disorder. And because tics can wax and wane in
severity and can also be suppressed, they are often absent during doctor
visits, which further complicates making a diagnosis.
In many cases, parents, relatives, friends, or even the patients
themselves become aware of the disorder based on information they have
heard or read in the popular media.
Because symptoms do not impair most patients and development usually
proceeds normally, the majority of people with TS require no medication.
However, medications are available to help when symptoms interfere with
functioning. Unfortunately, there is no one medication that is helpful to
all persons with Tourette Syndrome, nor does any medication completely eliminate
symptoms; in addition, all medications have side effects. Instead, the
available Tourette Syndrome medications are only able to help reduce specific symptoms.
Some patients who require medication to reduce the frequency and
intensity of the tic symptoms may be treated with neuroleptic drugs such
as haloperidol and pimozide. These medications are usually given in very
small doses that are increased slowly until the best possible balance
between symptoms and side effects is achieved.
Recently scientists have discovered that long-term use of neuroleptic
drugs may cause an involuntary movement disorder called tardive
dyskinesia. However, this condition usually disappears when medication is
discontinued. Short-term side effects of haloperidol and pimozide include
muscular rigidity, drooling, tremor, lack of facial expression, slow
movement, and restlessness. These side effects can be reduced by drugs
commonly used to treat Parkinson's disease. Other side effects such as
fatigue, depression, anxiety, weight gain, and difficulties in thinking
clearly may be more troublesome.
Clonidine, an antihypertensive drug, is also used in the treatment of
tics. Studies show that it is more effective in reducing motor tics than
reducing vocal tics. Fatigue, dry mouth, irritability, dizziness,
headache, and insomnia are common side effects associated with clonidine
use. Fluphenazine and clonazepam may also be prescribed to help control
tic symptoms.
Medications are also available to treat some of the associated
behavioral disorders. Stimulants such as methyphenidate, pemoline, and
dextroamphetamine, usually prescribed for attention deficit-hyperactivity
disorders, although somewhat effective, have also been reported to
increase tics; therefore their use is controversial. For obsessive
compulsive behaviors that significantly disrupt daily functioning,
fluoxetine, clomipramine, sertraline, and paroxetine may be prescribed.
Other types of therapy may also be helpful. Although psychological
problems do not cause Tourette Syndrome, psychotherapy may help the person better cope
with the disorder and deal with the secondary social and emotional
problems that sometimes occur. Psychotherapy does not help suppress the
patient's tics.
Relaxation techniques and biofeedback may be useful in alleviating
stress which can lead to an increase in tic symptoms.
Evidence from genetic studies suggests that Tourette Syndrome is inherited in a
dominant mode and the gene(s) involved can cause a variable range of
symptoms in different family members. A person with Tourette Syndrome has about a 50-50
chance of passing on the gene(s) to one of his or her offspring. However,
that genetic predisposition may not necessarily result in full-blown TS;
instead, it may express itself as a milder tic disorder or as obsessive
compulsive behaviors or possibly attention deficit-hyperactivity disorder
with few or no tics at all. It is also possible that the gene-carrying
offspring will not develop any symtoms of Tourette Syndrome. A higher than normal incidence
of milder tic disorders and obsessive compulsive behaviors has been found
in families of individuals with Tourette Syndrome.
Gender also plays an important role in Tourette Syndrome gene expression. If the
gene-carrying offspring of a Tourette Syndrome patient is male, then the risk of
developing symptoms is 3 to 4 times higher. However, most people who
inherit the gene(s) will not develop symptoms severe enough to warrant
medical attention. In some cases of Tourette Syndrome, inheritance cannot be determined.
These cases are called sporadic and their cause is unknown.
There is no cure for Tourette Syndrome; however, the condition in many individuals
improves as they mature. Individuals with Tourette Syndrome can expect to live a normal
life span. Although the disorder is generally lifelong and chronic, it is
not a degenerative condition. Tourette Syndrome does not impair intelligence. Tics tend
to decrease with age, enabling some patients to discontinue using
medication. In a few cases, complete remission occurs after adolescence.
Although tic symptoms tend to decrease with age, it is possible that
neuropsychiatric disorders such as depression, panic attacks, mood swings,
and antisocial behaviors may increase.
Although students with Tourette Syndrome often function well in the regular classroom,
it is estimated that many may have some kind of learning disability. When
attention deficit-hyperactivity disorder, obsessive compulsive disorder,
and frequent tics greatly interfere with academic performance or social
adjustment, students should be placed in an educational setting that meets
their individual needs. These students may require tutoring, smaller or
special classes, and in some cases special schools.
All students with TS need a tolerant and compassionate setting that
both encourages them to work to their full potential and is flexible
enough to accommodate their special needs. This setting may include a
private study area, exams outside the regular classroom, or even oral
exams when the child's symptoms interfere with his or her ability to
write. Untimed testing reduces stress for students with Tourette Syndrome.
Within the Federal Government, the leading supporter of research on Tourette Syndrome
and other neurological disorders is the National Institute of Neurological
Disorders and Stroke (NINDS).
Recent research has led to several notable advances in the
understanding of Tourette Syndrome. Already scientists have learned that Tourette Syndrome is inherited
from a dominant gene(s) that causes different symptoms from patient to
patient, and that the disorder is more common than was previously thought.
Genetic studies. Currently, investigators are conducting
genetic linkage studies in large multigenerational families affected with
Tourette Syndrome in an effort to find the chromosomal location of the TS gene(s).
Finding a genetic marker (a biochemical abnormality that all Tourette Syndrome patients
might share) for TS would be a major step toward understanding the genetic
risk factors for Tourette Syndrome. Once the marker is found, research efforts would then
focus on locating the Tourette Syndrome gene. Understanding Tourette Syndrome genetics will
directly benefit patients who are concerned about recurrence in their
families and will ultimately help to clarify the development of the
disorder. Localization of the Tourette Syndrome gene will strengthen clinical diagnosis,
improve genetic counseling, lead to the clarification of pathophysiology,
and provide clues for more effective therapies.
Neurotransmitter studies. Investigators continue to study
certain neurotransmitters to increase our understanding of the syndrome,
explore the role they play in the disease process, and provide more
effective therapies.
Environmental studies. Other research projects currently
under way include analyzing young unaffected children at high risk for Tourette Syndrome
in order to identify environmental factors such as life stresses or
exposure to certain medications that may influence the expression of the
disorder.
Scientists are also conducting neuropsychological tests and
neuroimaging studies of brain activity and structure to determine the
extent to which specific environmental exposures may affect the emergence
of tics and/or obsessive compulsive symptoms.
Keeping on Top of Your Condition
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BRAIN
P.O. Box 5801
Bethesda, Maryland 20824
(301)
496-5751
(800) 352-9424
http://www.ninds.nih.gov/
The Tourette Syndrome Association, Inc., is a voluntary, nonprofit
organization whose members include people with TS, their families and
friends, and health care professionals. The Association funds research,
provides services to patients and their families, and offers a variety of
publications, including a newsletter, brochures, and fact sheets. For
further information, contact:
Tourette Syndrome Association, Inc.
42-40 Bell Boulevard
Bayside, New York 11361-2820
(718) 224-2999
(800)
237-0717
www.tsa-usa.org/
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