Christiane Fux - translated into English from Evgeny Sheronov
Tourette Syndrome (TS) is a neuropsychiatric disorder manifests itself in so-called tics. Tics are spontaneous movement, noises or verbal expressions that are formed without the consent of the affected person. It can be compared to sneezing or hiccups. Tics within Tourette’s can hardly be controlled.
Tourette Syndrome: Description
Twitching arms, grunting, snorting or repeated screaming of insults and profanities such as “Fat bastard!” or “Heil Hitler!”. – people suffering from Tourette Syndrome can cause quite a stir in their environment. Depending on the intensity and frequency of these tics, they can have a severe impact on the lives of the persons’ affected by it.
Tourette Syndrome in children
Tourette Syndrome is no emotional disorder but a neuropsychiatric disease. They are a failure of the filter functions of the motoric control. Tourette usually starts in childhood, and sometimes in adolescence. Especially younger children often go through a phase of tics that disappears after a few months on its own. In every tenth child, the symptoms become worse – the onset of Tourette Syndrome. Tourette is defined as a condition where several motoric tics (movements) co-occur with at least one vocal tic (utterance) over a period of at least one year.
In most affected people, the symptoms recede after puberty and might even disappear at all. Other tics persist throughout the rest of their lives. Boys are four times more likely to be affected than girls. The reasons for this distribution are still unknown.
In 1885 the French physician Gille de la Tourette was the first to describe the condition that would later be known as the “Gille-de-la-Tourette-Syndrome”.
Experts estimate that about 1% of all humans develop Tourette Syndrome. In Germany alone, that would amount to about 800.000 people. However, only a small portion of those people is so severely affected that they need treatment.
Degrees of severity
The Tourette-Syndrome-Severity-Scale (TSSS) is used to determine the severity of the condition.
- Low impairment: Tics do not affect the patient’s behavior in school or at work. Outsiders hardly notice the disorder. The affected deems the condition as unproblematic.
- Moderate impairment: Outsiders notice tics, which regularly causes annoyances. They also impair the execution of certain tasks in school and at work.
- Severe impairment: Tics are so severe that they massively impair social relationships and contacts and reduce overall performance. They are a grave burden for the affected person.
Tourette Syndrome: Symptoms
Tourette Syndrome manifests itself in so-called tics, such as involuntary muscle twitches or utterances. “Tic” is French and means something like “to twitch”. A distinction is made between motoric, vocal, simple and, complex tics.
- Simple motoric tics are for example winking, shrugging, nodding or pulling faces.
- Complex motoric tics can manifest themselves in touching certain objects or people, twisting the body, or twitching of limbs. Obscene gestures (Copropraxia) are also among the complex motoric tics. Sometimes, self-harming behavior can occur when people with Tourette Syndrome smash their heads against a wall, pinch themselves or stab themselves with a pen.
- Simple vocal tics manifest themselves in noises such as harrumphing, squeaking, grunting, sniffing or clicking one’s tongue.
- Complex vocal tics can be words or phrases that are vociferated and do not have any logical connection to the current situation. They usually consist of profanities and insults (Coprolalia).
The variety of tics is enormous and can differ from one individual to another. The symptoms change over time and new symptoms can be added to existing ones. Some affected persons may even be inspired by other patients and adopt their tics after an encounter.
Tics do not disappear during sleep and occur in every state of sleep, although in a weakened form. In general, the patient has forgotten his nightly tics the next morning.
Tourette Syndrome usually begins in childhood with simple tics that over time increase in severity little by little. Later, vocal utterances can occur as well. Tics often occur in series. Some of the affected persons experience tics only now and then – others constantly feel like they are “tic(k)ing” all the time. +
Tics can be suppressed for some time only to come back a lot stronger later. Some patients are able to get a grip on themselves in school or at work. They later let their tics burst out at home. Other patients have almost no control over their tics at all.
Tics occur several times during the day, usually in the form of an attack. This can happen daily or sometimes the tics can be absent for several days and come back at times.
Emotional arousals such as joy, anger or fear intensify the symptoms. The same is true for stress. If the affected people are very focussed on a certain task, the tics decrease in intensity.
Signs that a tic is imminent
Sometimes there are sensomotoric signs that a tic is imminent. For example through a tingling sensation or the feeling of tension. These unpleasant feelings disappear, once the tic has been executed. In general, however, the affected only notice their tics when they appear.
Roughly 90% of all patients with Tourette’s develop additional disorders.
- Attention Deficit Hyperactivity Disorder (ADHD)
- Obsessive-Compulsive Disorder (OCD)
- Sleep disorders
- Anxiety disorders
- Social phobias
Tourette Syndrome: Causes and risk factors
What causes Tourette’s has only partially been discovered so far. It is assumed that genetics play an important role in the development of most cases of Tourette Syndrome. Children, whose parents suffer from Tourette’s have a tenfold to the hundredfold risk of developing Tourette’s as well, compared to children that don’t have any relatives with Tourette’s. In order to develop Tourette Syndrome, several environmental factors need to be triggered, too. Among those are complications during pregnancy and birth.
Disturbed semiochemical metabolism
Research has shown, that the semiochemical metabolism in the brain is impaired in people with Tourette’s. Especially dopamine as a neurotransmitter plays an important role in this process. In the brain, dopamine is responsible for the transmission of information. Research has shown that the number of dopamine receptors in the brains of patients with Tourette’s is elevated. Additionally, an impaired serotonin-, noradrenalin-, glutamine-, and opioid balance, as well as the interrelations between these substances seems to play a role in the development of Tourette Syndrome.
The disorders manifest themselves, especially in the so-called basal ganglia. These areas of the brain are located in the deeper structures of the cerebral hemispheres and function as a sort of filter. The control which impulses a person realizes and which not.
Bacteria as a cause for Tourette’s
In rare cases, it is suspected that an infection with Group A Streptococcus, such as scarlet fever, can be the cause for the development of Tourette’s. The antibodies developed in the body to combat the bacteria can reach the brain and attack the basal ganglia.
Tourette Syndrome: Diagnosis
Tourette’s is often diagnosed years after the onset of the first symptoms. As the disease causes nuisances and annoys people in the patient’s environment, this delay is problematic. Children are accused of being sassy and stubborn and their parents worry about whether they failed in their education. In these cases, a diagnosis can be a relief for all involved.
Some patients can control their tics for hours so that a doctor cannot always examine them properly himself. Accordingly, the diagnosis of Tourette’S is often based on the observation and description of the patient’s tics. Young children are often unaware of their tics. It is then, usually the parents that describe their child’s behavior to the doctor.
Important questions are:
- How do these tics manifest themselves?
- Where, how often and how intense do these tics occur?
- Does stress intensify the condition?
- Can the symptoms be suppressed?
- Is there some sort of anticipation of the symptoms?
- At what age did the symptoms occur for the first time?
- Do the symptoms change in terms of their nature, strength, and frequency?
- Have their been cases of Tourette’s in the family?
In order to give the diagnosis of Tourette Syndrome, the syndromes need have persisted for at least one year and their manifestation must have taken place before the age of 18. Furthermore, different forms of tics need to have occurred in the patient, at least several motoric and one vocal tic.
So far, there is no laboratory testing or neurological and psychiatric examination that allows for a diagnosis of Tourette’s. The examinations, therefore, serve the purpose of excluding other causes for tics and symptoms similar to tics.
Causes such as:
- Side-effects of medication (e.g. neuroleptics)
- Brain tumors
- Inflammation of the brain (encephalitis)
- Chorea (different malfunctions of the basal ganglia that manifest themselves in involuntary movements)
- Hemiballism (neurological condition that forces patients to execute abruptly flinging or throwing movements)
- Myoclonus (involuntary, irregular, and sudden twitching of muscle groups)
- Streptococcus infection
In order to rule out different causes an Electroencephalogram (EEG) or a blood test, in order to identify a streptococcus infection, can be helpful. A blood test is especially recommended when the child suffers from otitis media or scarlet fever.
Tourette Syndrome: Treatment
Currently, there is no cure for Tourette’s. Existing therapies can alleviate the symptoms but they can not change the course of the disease. Nevertheless, there is an extensive spectrum of treatments that living with Tourette’s easier. The choice of the treatment depends not only on the severity of the symptoms but also on the extent of the patient’s psychosocial burden. Some patients with quite pronounced tics might not suffer as much as other patients that experience only comparatively weak tics.
At the beginning of every therapy, there is always a psycho-educational consultation, where patients are comprehensively made aware of the characteristics of their condition. This is often a relief for many affected by Tourette Syndrome.
With moderate symptoms, behavioral therapy can be helpful in order to get a grip on the symptoms. In severe cases, medication can alleviate the symptoms as well. There is quite a spectrum of different active ingredients that unfortunately have a similar range of negative side-effects. These side-effects can range from fatigue, dizziness, and weight gain to impairment of sexual functions. And even with medication, the symptoms do not fully disappear. A reduction of about 50% is realistic.
Should even medication fail to fight the symptoms of Tourette’s, a brain pacemaker can help get a grip on the tics.
It is crucial to treat comorbidities such as ADHD, OCD and sleeping disorders as well. Often the treatment of Tourette’s comorbidities leads to reduced intensity of the tics.
Within the scope of a psychoeducational consultation, patients and relatives are being informed about the backgrounds and prognosis of Tourette Syndrome. Occasionally, these consultations can such a relief that the patient and his social environment can accept his tics a lot better. Once this burden is taken off the patient’s shoulders, the stress level that comes with the condition also decreases. In such cases, the course of the disease is only monitored, in order to be able to adequately intervene once the symptoms get worse.
Behavioral therapy teaches patients to better control their tics. Habit Reversal Training (HRT) has proven to be especially effective. It is based on the conception that problematic behavior happens, to some extent, unconsciously and is automated through constant repetition. HRT helps patients train their self-awareness and how to interrupt automated behavioral patterns with alternative actions.
A combination of Exposure Therapy and Responsive Prevention also seems to yield promising results. These forms of therapy are usually applied to treat compulsive disorders. Patients that can anticipate their tics through a tingling sensation or a feeling of tension, learn that they can avoid the tic, even if they feel the anticipatory sensation. According to some studies on this field, a combination of both methods can lead to a reduction in tics of about 30% to 35%.
Behavioral therapies have shown to be able to cushion the effects of the mental consequences of Tourette’s. They include damaged self-esteem, insecurities when interacting with other people, social phobias, anxiety disorder, and depression.
Learning relaxation techniques can complement behavioral therapy. With the help of relaxation techniques, stress that otherwise would intensify the symptoms can be reduced.
Medication to treat Tourette Syndrom has – in part grave – side-effects. Should the patient suffer gravely from his tics, they are recommended anyway. This can be the case when:
- The is in pain because of his tics (neck- and back pain) or inflicts self-harm upon himself.
- The patient is ostracized due to his Tics, teased or bullied. This is especially true for vocal tics and tics with a strong motoric expression.
- The patient suffers, due to his condition, from emotional problems such as anxieties, depression, social phobias or lowered self-esteem.
- The patient has difficulties in performing certain tasks, to fall asleep or is impaired in his ability to communicate with others.
Most medication that is used to treat Tourette Syndrome target the dopamine metabolism in the brain. Dopamine receptor antagonists dock on to different dopamine receptors and block them for the messenger substance. This is especially true for the group of medication with an antipsychotic effect (neuroleptics). They are the drug of choice for the treatment of Tourette’s. The dose is slowly increased during treatment until a positive effect has been reached.
Classical Neuroleptics: Haloperidol is the only active agent that is explicitly approved for the treatment of Tourette Syndrome in Germany. It works in about 70% of the patients. Due to its side-effects, it is currently only administered in Germany when other medication fails. The same is true for Pimozid that belongs to the same class of medication. The undesired side-effects include fatigue, weight gain, and impairment of sexual functions.
Atypical Neuroleptics can also reduce the symptoms of Tourette’s. Risperidon can reduce 41% to 62% of the tics. It also lessens the aggressive behavior that some patients with Tourette Syndrome develop. The side-effects of Risperidon are also problematic as they include weight gain, raised prolactin levels, and impairment of sexual functions. Another atypical neuroleptic is Aripiprazole.
Benzamides such as Tiaprid and Sulpirid inhibit D2-receptors in the brain. They do work but also come with the price of negative side-effects such as fatigue, dizziness, increased appetite and weight gain, hyperprolactinaemia, and impairment of sexual functions. Tiaprid is often prescribed to children, as it does not impair their mental development and performance. Sulpirid, on the other hand, is mostly prescribed to adults.
Tetrabenazine empties the dopamine storage in the brain. First studies show that it can reduce tics. Possibly, it can raise the susceptibility to side-effects such as fatigue and depression which makes it a last resort when other medication fails.
Noradrenergic substances such as clonidine, guanfacine and atomoxetine are especially prescribed to children that suffer from ADHD as a comorbidity. They are not as effective as neuroleptics but have the advantage to treat both conditions simultaneously. Side-effects may include a dry mouth, headaches, irritability and sleeping disorders.
Dopamine receptor agonists such as Talipexol have only rarely been used to treat Tourette. Reports about its effectiveness are inconsistent.
Nicotine for example in the form of chewing gum or patches can possibly strengthen the effects of neuroleptics on patients with Tourette’s. Nicotine also increases concentration. It has in fact been observed, that quitting smoking has intensified the symptoms in patients with Tourette Syndrome.
Botulinum Toxin (Botox) injections can help with tics that affect the patient’s face and neck. It has also been reported that botox alleviates vocal tics as well.
Cannabis: Some patients stated that consuming cannabis reduces their symptoms. This effect has not been proven so far. As of late the Bundesinstitut für Arzneimittel und Medizinprodukte (BfArM) accepts requests for treatments with cannabis extracts.
Surgeries: Deep brain stimulation
Adult patients that experience a severe impairment of their quality of life and who are not sufficiently affected by other forms of therapy can be treated with a deep brain stimulation. In the course of this surgery, a pacemaker is implanted into their brain that electrically stimulates their brain through electrodes.
With other conditions such as Parkinson’s disease, this procedure is already quite common. The cases of treating Tourette’s with this procedure are still quite rare and therefore experience about the efficiency is scarce. It remains in particular unclear which patient requires stimulation of which area of the brain. The success of the treatment, therefore, varies quite a bit: in some patients the procedure lets the symptoms disappear almost completely, whereas others feel no effect at all.
Progression of the disease and prognosis
Tourette Syndrome manifests itself in childhood and adolescence – usually between the age of four to eight. Generally, the condition starts with simple motoric tics, that are later complemented with vocal tics and more complex symptoms in general. Severe phases alternate with mild phases. The majority of the patients suffers most between the age of eight and twelve.
In general, the prognosis is quite favorable. Two-thirds of the children experience either a significant improvement over time or a complete disappearance of their symptoms. After the age of 18, most tics have receded so far that they are not perceived as a nuisance anymore.
For the remaining third, the prognosis is less favorable. For some of them, the symptoms will even intensify during adulthood. For them, the loss of quality of life is especially severe.
Living with Tourette Syndrome
For the patients’ social environment it is hard to comprehend their behavior and they are often seen as a nuisance. Many people have a. hard time accepting that those who suffer from Tourette’s do involuntarily. Often hostile and aggressive reactions are the result, especially as a reaction to insults and obscene gestures. This is especially true when patients are among foreigners.
For some patients, these misunderstandings and their environment’s hostile reactions, understandably, cause them to avoid other people at all. Certain jobs, particularly those with many social interactions, are very difficult for people with Tourette’s.
Positive aspects of Tourette Syndrome
People with Tourette’s are less controlled than others. This can also be an advantage, for example in many types of sport. A large share of Tourette Syndrome patients also suffers from ADS, which makes them more creative, as their thought flow more freely and they develop new ideas more easily.
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