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TOURETTE SYNDROME ASSOCIATION
42-40 Bell Boulevard
Bayside, New York 1136l-2820
Telephone: (718) 224-2999
Toll Free 1-800-237-0717
PENNSYLVANIA TOURETTE SYNDROME ASSOCIATION
132 W Middle Street
Gettysburg, Pennsylvania 17325-2108
Telephone: (717) 337-1134
Cheston M. Berlin, Jr., M.D.
University Professor of Pediatrics
Department of Pediatrics H085
The Milton S. Hershey Medical Center
PO Box 850
Hershey, Pennsylvania 17033-0850
Material in this handout is taken from various publications from the Tourette Syndrome
This information has been prepared specifically for the patient, parent, friend, relative, orteacher, who has recently encountered one of the tic disorders including Tourette syndrome(TS). You can deal with these conditions best if you know as much as possible about its cause(or causes), its symptoms, the types of treatment available and what to expect in the future. Inthis discussion the term Tourette syndrome is used to cover all tic disorders.
In 1885, a French doctor named George Gilles de la Tourette described nine patients with thesyndrome that now bears his name. The first reported case of Tourette syndrome was by anotherFrench doctor named Itard in 1825. He described the case of Marquise de Dampierre, a womanof nobility who was quite an important person in her time. The Marquise had had symptomsconsisting of tics involving many parts of her body, plus coprolalia (obscene speech) andecholalia (echo speech) from the age of seven. These symptoms would appear explosively so asto interrupt her in the middle of a conversation. The obscene words and movements were verymuch unlike her usual character. As Itard described it:
"The more she herself thinks her vulgarities will be
revolting, the more she is tortured by the fear that she will utterthem, and it is precisely this preoccupation, that when she can nolonger control it, puts these words at the tip of her tongue."
Because of the social problems these symptoms caused, this lady lived the last 70 years of herlife as a recluse. She lived to be over 90 years old and was one of the patients that Gilles de laTourette saw some 60 years after Itard.
WHAT IS IT?
Gilles de la Tourette syndrome is a neurological disorder which becomes evident in earlychildhood or adolescence between the ages of 2 and 15. Tourette syndrome is defined bymultiple motor and vocal tics lasting for more than one year. Many people have only motor ticsor only vocal tics. The first symptoms usually are involuntary movements (tics) of the face,arms, limbs or trunk. These tics are frequent, repetitive and rapid. The most common firstsymptom is a facial tic (eye blink, nose twitch, grimace), and is replaced or added to by other ticsof the neck, trunk, and limbs.
These involuntary (outside the patient's control) tics may also be complicated, involving theentire body, such as kicking and stamping. Other symptoms such as touching, repetitivethoughts and movements and compulsions can occur.
There are also verbal tics. These verbal tics (vocalizations) usually occur with the movements;later they may replace one or more motor tics. These vocalizations include grunting, throatclearing, shouting and barking. The verbal tics may also be expressed as coprolalia (theinvoluntary use of obscene words).
Neither echolalia (echo speech) or coprolalia is necessary for the diagnosis of Tourettesyndrome. All patients have involuntary movements and some have vocalizations. Echophenomena are also reported, although less frequently. These may include repeating word ofothers (echolalia), repeating ones own words, and repeating movements of others.
THE TYPICAL CASE
The first symptom that appears is usually a tic on a small area of the face, usually around theeyes or mouth. A single simple tic is not an unusual occurrence and it may occur in manypeople, adults as well as children. Doctors familiar with tic problems state that 20 to 25% of thepopulation have tics at some point during their lives. In most people, tics are temporary anddisappear after a short time. With Tourette syndrome the tics remain and are graduallyaccompanied by other tics involving other muscles of the face, neck, arms, legs and trunk. Vocal tics are always present with Tourette syndrome. As time passes, tics frequently increasein number so that many sites may show rapid muscular spasms at the same time. Tics can waxand wane in severity and have remissions and exacerbation. It is important to remember that thefrequency and intensity of the tics can vary greatly from one patient to another and also in thesame patient at different times. Severity of tics may impact on the patient’s daily functioningand efforts to overcome the tics.
In most patients emotional stress, tension, anxiety or fatigue may cause an increase of symptoms. Concentration on a non-anxious task usually results in a decrease of symptoms. Tics usually donot occur during sleep or are greatly reduced.
After muscular tics have been present for some time, the patient is noted to make a soft,unintelligible noise that appears to be involuntary. This may take the form of sniffing, throat-clearing, hiccuping, grunting, barking, a nonsense sound or a specific word or phrase. The term"vocalization" is used to describe all these sounds. Usually the sound becomes louder and moredistinct, and in some cases, the sound that was at first unintelligible is now clearly an obscenity.
The word "explosive" describes how the vocalizations are emitted. Vocalizations usuallybecome worse under the same circumstances (tension, stress or fatigue) that cause muscular ticsto be more pronounced. Many patients do not progress to the point of explosive outbursts, andsome may conceal an obscene utterance by changing it slightly when speaking.
Coprolalia (involuntary utterance of obscene words) and echolalia are present in less than 10%of patients.
All patients do not follow the previously described "typical case". In some patients vocalizationscome first and in others muscular tics and vocalizations begin at the same time. There is also agreat variation in the time required for different aspects of the symptoms to appear. Severalsymptoms may alert at the same time or it may be several years between the onset of onesymptom and the onset of others.
Other abnormal movements or behavior patterns can also occur. Some of these includestuttering, sticking out the tongue constantly, pounding the chest, stomach or head with the handor fist, grinding the teeth, handling the genitals constantly, abnormal walking, temper tantrums,echopraxia (imitating the movements of others), or compulsive touching. These are examplesgiven to point out the wide variety of symptoms that may appear and to make it clear thatadditional symptoms are common with all tic disorders including Tourette syndrome.
The precise cause has not been definitely established. Researchers feel it is due to a biochemicalimbalance in the part of the brain called the basal ganglia. Basal ganglia sends pathways to thecortex of the brain; these pathways influence and control motor movements of the body. Ticdisorders appear to involve the chemical neurotransmitters dopamine and serotonin and theireffect on these parts of the central nervous system. This is why dopamine-blocking agents, suchas haloperidol, pimozide and Risperidone are being used successfully in treating TS.
Tics disappear during sleep and during intense sexual arousal. The number of boys with ticdisorder outnumbers girls by at least three to one (no known reason). Some patients canvoluntarily inhibit symptoms for a period of time (depending on the patient) for just a moment toas long as several hours. This voluntary effort may increases tension which ultimately requiresdischarge of tic symptoms.
There have been studies to determine the nature of the heredity of Tourette syndrome. Perhaps itis an autosomal dominant gene with high sex-specific (male>female) penetrance. This meansthat an individual would have to have only one gene (inherited from either parent) in order to besusceptible to Tourette syndrome. These studies have been inconclusive. Other researchers feelthat several genes working together may be responsible. Some authorities feel that somevarieties of the disorder may not be genetic. As many as 10% of TS cases occur in families withno known previous cases.
Normally some symptoms remain throughout life. There is usually a waxing and waning ofsymptoms. Symptoms frequently decrease through adolescence.
• Not mentally or physically degenerative• Not physically crippling• Not physically disabling• Not contagious• Not infectious
It does not diminish intellectual capacity. It is not terminal. No one ever dies from Tourettesyndrome.
There is no diagnostic test to confirm a patient has Tourette syndrome. A diagnosis is made ifthe following conditions are present:
1. Age for onset between 2 and 15 years.
2. Multiple involuntary muscular and verbal tics (in younger patients verbal tics may not have developed yet).
3. Tic severity and frequency wax and wane (increase and decrease), but are present for more than one year.
The following are confirmatory but are not essential for the diagnosis:
1. Coprolalia (involuntary use of obscene words).
2. Copropraxia (involuntary obscene gesturing).
3. Echolalia (involuntary repetition of sounds from self or others).
4. Echopraxia (involuntary imitation of the movements of others).
There are certain behavioral problems noted to be associated with TS; i.e. obsessive-compulsivedisorder (OCD), attention-deficit hyperactivity disorder (ADHD), and oppositional defiantdisorder (ODD).
Some consider Tourette syndrome to be one of the several tic disorders. These are described as:
1. Acute or transient tic of childhood that begins usually before age of 12, involves one muscle
group only, often an eye blink and stops within one year.
2. Chronic simple tic usually begins before the age of 15, involves one or two muscle groups.
Tics persist throughout life but there is little or no change in the pattern of tics and generallyconsists of either motor or vocal tics but not both. Chronic motor tics and Tourette syndromeare probably different manifestations of an autosomal dominant gene with high penetrance.
Tourette syndrome is not as rare as was originally thought, although it may not be encounteredby most doctors. Few disorders have had as many varied types of treatments. If you can namea treatment, some Tourette patient has probably had it prescribed as a cure for his condition. When tics first appear in a child the most common advice is, "ignore it and it will disappear." Ifthe patient has a tic disorder or Tourette syndrome the tics may not go away or "disappear."
Another common incorrect diagnosis for the patient is psychological conflict over inhibitedaggression. Common treatments (all of which are ineffective in the vast majority of cases) are: psychotherapy, group therapy, relaxation, hypnosis, bio-feedback, behavior modification,chiropractic, a variety of vitamin diets, herbs, trace elements, herbs, and many drugs.
There are medications that will reduce tics; none are a cure. Haloperidol (Haldol) is effectivefor 60% to 90% of patients. Other medications in this group called neuroleptic drugs that havethe same effect on tics are pimozide (Orap), risperidone (Risperdal), olanzapine (Zyprexia), andziprasidone (Geodon). Reponse to any one of these drugs is quite variable from patient topatient.
Drug dosage that patients require can be quite variable even for children of similar age and size. There is no one set dose for an individual. The medication is started at a low dose and must beslowly increased until the tics are reduced or until side effects are encountered. The usual sideeffects are reversible; they disappear when the medication is decreased or discontinued.
Most patients do not obtain 100% relief of symptoms (tics and vocalizations) with medication. Many patients will experience a 90% reduction in tics; other 50-60 %.
If the patient stops medication, symptoms usually return within two to seven days. Onreinstitution of medication, symptoms will decrease to the previous level of control.
Drug treatment of Tourette syndrome can be complicated and should be supervised by aphysician experienced in the management of this condition. Even then, extreme patience isrequired of the patient, family, school and physician as the drug is introduced or dose changed. There are now several drugs available with more being studied. The problem of side effects iscomplicated and of concern to all. Your doctor will discuss medication pros and cons with you. Please ask questions if you do not understand.
THE PROGNOSIS - WHAT WILL HAPPEN?
THE PATIENT AND HIS ENVIRONMENT
Years ago, with little or no knowledge of Tourette syndrome, the prognosis was vague. Duringthe past 20 years more and more patients have been followed by doctors so that a considerableamount of information is now available. Based on this, patients may expect to lead fairlynormal lives, even those receiving no treatment for reduction of symptoms considering theseverity of tics.
Four factors are important: 1) the severity of symptoms, 2) how well-adjusted the patient wasprior to onset of symptoms, 3) the relationship between the patient and his family, and 4) thetreatment used, how soon treatment was begun after onset of symptoms and the patient'sresponse to treatment.
It is important to remember that patients are the same as anybody else except for the symptomswhich are beyond their control. Others respond to the patient differently depending on howthey feel about the patient and how much they understand the problem. Those who do notunderstand may ridicule the patient or stay away because they feel uncomfortable. It is notdifficult to understand why many patients prefer to spend much of their time alone. It is alsonot difficult to realize that a tolerant and understanding attitude is important in dealing withthese patients. They require support and encouragement from all people, especially from theirfamily and their school.
Parents should give the child the chance to exert as much independence as possible andencourage him to express himself. They should not attempt to structure the child's lifeexcessively, for this results in hostility on both sides. The child should not be punished forexhibiting his symptoms nor should he be threatened in an attempt to stop tics or vocalizations.
Tourette patients have the same capacity for physical activity as other people. Sports can bevery beneficial and should be encouraged.
Some patients learn to use the symptoms to control their environment. It is difficult, but parentsshould attempt to recognize these times and refuse to permit it, not by punishment, but by beingfirm and kind and in not giving in to his desires. These children do need structure in their life.
SCHOOLS AND TEACHERS
Depending on severity of tics and the presence of learning problems, the Tourette patient canpresent a difficult problem in school. The teacher has the entire class to consider. However, thepatient should be treated just like his classmates whenever possible. Intellectually, he maypresent problems since symptoms cause a decrease in scholastic progress. Rarely is there anychange in the child's basic mental capability. The decrease in progress more likely representsreduced ability to concentrate and synthesize information because of the disruptive effect of ticsand/or the presence of associated learning problems such as attention deficit disorder with orwithout hyperactivity.
Drowsiness may be the effect of excessive medication and should be reported to the parents andthe patient's doctor. Aggressive behavior may arise because of classmates making fun of thepatient. It helps to encourage the patient by reminding him of his positive attributes so heunderstands his capabilities are comparable to those of his classmates. Tutoring (one-on-oneteaching) may also be helpful. Very helpful information on educational techniques is availablethrough the Tourette syndrome Association. An educational session on the disorders for thechild’s class may be very helpful.
The most important point for the family and teacher to remember is that the patient, likeeverybody else, needs love, support and understanding. He has extra problems so he needsextra love and understanding to be able to cope with his problems.
THE TOURETTE SYNDROME ASSOCIATION
The Tourette syndrome Association is a voluntary, non-profit organization composed ofindividuals with this disorder, their relatives, friends and other interested people includingprofessionals treating this disorder. The goals of the association are:
• To educate the public and physicians about the symptomology of this disorder and current treatment available.
• To promote research toward finding the cause and, ultimately, a cure.
• To be an advocate for the patient.
The Association holds periodic meetings where the latest medical developments are discussedand where patients and their families can discuss common problems and offer support to oneanother. TSA publishes a newsletter and other literature. They prepare programs for radio andtelevision; educational videotapes are available.
The headquarters of the Association is in Bayside, New York (outside New York City). Thereare regional chapters throughout the country to conduct the affairs of the Association in theirlocal area. You are invited and encouraged to attend meetings and other activities and toparticipate directly in the work of the TSA.
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