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Tourette syndrome – a disorder that has a neuropsychic nature and manifests itself in uncontrolled motor and sound tics. The disease manifests itself in childhood, its symptoms in the form of various behavioral disorders cannot be controlled by the patient.
Other names for Tourette’s syndrome are: Gilles de la Tourette’s disease, generalized tic, Tourette’s disease. Earlier, in the Middle Ages, Tourette’s syndrome was recognized as a rare and very strange disease. He was associated exclusively with shouting obscene phrases, with offensive statements, with inappropriate expressions. Moreover, motor and vocal tics were mistaken for an obsession. That is how, for the first time in the book “Hammer of the Witches” (1489), a priest was named who suffered from this genetic disorder. The eponym of this disease was assigned in honor of the neurologist Gilles de la Tourette, on the initiative of his teacher J. M. Charcot. It was Gilles de la Tourette who, in the form of a report, described in 1885 the condition and behavior of 9 people suffering from this syndrome. Nevertheless, even before Tourette himself, such a state was described more than once by various authors.
The disease is now rare. It affects up to 0,05% of the population. The syndrome manifests for the first time in the age range between 2-5 years or between 13-18 years. At the same time, two-thirds of the patients are males, that is, boys get sick three times more often than girls. Family cases are traced in a third of patients.
In addition, most modern scientists point out that Tourette’s syndrome is not a very rare disease. They note that more than 10 children out of 1000 may be affected by this anomaly, but they have a mild form and often remain undiagnosed. The level of intelligence and life expectancy of such people do not suffer.
Although scientists currently associate the development of the disease with genetic, environmental, neurological and other factors, the question of the etiology of Tourette’s syndrome is still controversial, because the gene has not yet been mapped. In this regard, Tourette’s syndrome, as a disease, is of interest to such sciences as: psychology, neurology, psychiatry.
Causes of Tourette Syndrome
Although the exact causes of Tourette’s syndrome have not yet been established by official science, there are the following most likely hypotheses regarding the etiology of the disease:
Genetic disorders
In medicine, cases of the disease are described within the same family: brothers, sisters, fathers. In addition, hyperkinesias of varying severity are found in close relatives of children with Tourette’s symptom.
Scientists suggest that Tourette’s symptom is transmitted in an autosomal dominant pattern of inheritance with incomplete penetrance. However, autosomal recessive inheritance should not be excluded, as well as polygenic inheritance.
It is estimated that a person with Tourette syndrome in 50% of cases passes the genes to one of their children. However, reasons such as variable expression and incomplete penetrance explain the appearance of symptoms of varying severity in close relatives, or their complete absence. At the same time, only a small part of children inherit genes that lead to serious disorders and require careful medical supervision.
In men, tics are more pronounced than in women. Therefore, gender is believed to influence gene expression. Sons whose mothers suffered from Tourette’s syndrome are most at risk of developing the disease. Women who carry the gene are more prone to obsessive-compulsive disorder. (read also: Neurosis – types and symptoms)
Autoimmune processes in the body (PANDAS)
So, scientists from the National Institute of Mental Health in 1998 put forward the theory that tics and other behavioral disorders occur in children against the backdrop of a developed autoimmune post-streptococcal process.
Experts point out that the transferred streptococcal infection and the autoimmune process that has developed against this background can even provoke tics in children in whom they have not previously been observed. However, studies on this subject have not yet been completed.
Dopaminergic hypothesis
The occurrence of Tourette’s syndrome is explained by a change in the structure and functionality of the basal ganglia, neurotransmitter and neurotransmitter systems. At the same time, scientists point out that tics occur either due to an increase in the production of dopamine, or due to the fact that receptors become more sensitive to dopamine.
At the same time, both motor and vocal tics become less pronounced when patients take dopamine receptor antagonist drugs.
In addition, scientists note a number of other factors that can provoke the development of the syndrome.
Tourette, among them:
Toxicosis and stress suffered by a pregnant woman.
Reception during childbearing of anabolic steroids, drugs and alcohol-containing drinks.
Intrauterine hypoxia of the fetus with impaired functioning of the central nervous system.
Prematurity of a child.
Intracranial injuries received during childbirth.
Postponed intoxication of the body.
Hyperactivity syndrome and psychostimulants taken against this background.
Increased emotional stress.
Symptoms of Tourette’s Syndrome
Most often, the first symptoms of Tourette’s syndrome manifest in a child aged 5 to 6 years.
In general, the signs and symptoms of Tourette syndrome are as follows:
Parents begin to notice certain oddities in their behavior in their children. Children make faces, stick out their tongues, wink, blink often, clap their hands, etc.
As the disease progresses, the muscles of the trunk and legs are involved in the process. Hyperkinesis becomes more complicated and begins to manifest itself in jumping, throwing out the lower limbs, and squats.
From an early age, children are capricious, restless, inattentive, very vulnerable. Due to such a high emotionality, it is difficult for them to establish contact with their peers.
Patients are prone to depression, increased irritability. Depressive disorders are replaced by bouts of rage and aggression. After a short time, aggressive behavior is replaced by a cheerful and energetic mood. The patient becomes active and relaxed.
Echopraxia and cypropraxia are common. The former are expressed in copying the movements of other people, and the latter in offensive gestures.
Tics can pose a certain danger, since patients are able to hit their heads, put pressure on their eyes, bite their lips hard, etc. As a result, patients inflict quite serious injuries on themselves.
Voice or, as they are also called, vocal tics, are very diverse in Tourette’s syndrome. They are expressed in the repetition of meaningless sounds and words, in whistles, panting, lowing, hissing, screaming. When vocal tics are introduced into the process of a person’s monologue, the illusion of stuttering, hesitation and other problems with the patient’s speech is created.
Sometimes patients cough non-stop, sniffle. Similar manifestations of Tourette’s syndrome can be mistaken for symptoms of other diseases, for example, rhinitis, tracheitis, sinusitis, etc.
Patients are also characterized by such speech disorders as:
Coprolalia – the expression of obscene words (is not
A pathognomonic symptom, as it is observed only in 10% of cases);
Echolalia – repetitions of phrases and words uttered by the interlocutor;
Palilalia – repeated repetitions of the same word.
The speed of speech, its timbre, volume, tone, accents, etc. can change.
If boys are characterized by coprolalia, then girls are obsessive-compulsive traits. Coprolalia is a serious symptom of the disease, as it contributes to social maladaptation. A person pronounces curses loudly, sometimes even shouts out. Phrases are broken.
The behavior of the patient during an attack can be very eccentric. They can grunt, crackle their fingers, sway from side to side, rotate around their axis, etc.
Patients are able to anticipate the onset of the next attack, as it is accompanied by the appearance of a certain aura. Perhaps the appearance of a coma in the throat, pain in the eyes, skin itching, etc. As the patients explain, it is these subjective sensations that force them to reproduce this or that sound or phrase. The tension is released immediately after the tick is completed. The stronger the patient’s emotional experiences, the more frequent and intense the tics will be, both vocal and motor.
Intellectual development of patients does not suffer. But motor and speech tics have an impact on his learning and behavior.
Other symptoms of Tourette’s syndrome are behavioral reactions expressed in excessive impulsivity, aggression, emotional instability.
The disease reaches its peak by adolescence, and as maturity approaches, it declines or disappears altogether. However, the persistence of symptoms of the disease throughout a person’s life is not ruled out. In 25% of cases, the disease is latent and worsens after a few years. Complete remission is rare.
Depending on how severe the symptoms of the disease are in the patient, there are several degrees of Tourette’s syndrome:
Easy degree. The patient is able to control all vocal and motor deviations without problems. Sometimes these disorders remain unrecognized by the people around them. In addition, asymptomatic periods are possible, although they are quite short-lived.
Moderate degree. The patient is able to control the existing violations, but it is not possible to hide them from the environment. In this case, there are no asymptomatic periods at all.
pronounced degree. A person is not able to control the symptoms of the disease, or does it with great difficulty. Signs of illness are obvious to everyone around.
Severe degree. Vocal tics and motor tics are pronounced. The muscles of the trunk and limbs are involved in the process. A person is unable to control the symptoms of the disease.
Features of tics in Tourette’s syndrome
Tics in Tourette’s syndrome have characteristic features. So, motor disturbances are always monotonous, for a while the patient can suppress them. There is no rhythm.
Another distinguishing feature of tics is that they are preceded by an impulse that the person is unable to overcome. It occurs just before the start of the tick. Patients describe it as an increase in tension, an increase in feelings of pressure, or an increase in energy that needs to be released. This must be done in order to normalize your condition, to return the former “good” state of health.
Patients indicate that they feel a lump in the throat, discomfort in the shoulder girdle. This prompts them to shrug or cough. In order to get rid of the unpleasant sensation in the eyes, people begin to blink frequently. Prodromal sensory phenomena, or prodromal urges – this is how these impulses are called, which patients experience before tics.
At the same time, not every patient, especially in childhood, is able to appreciate this foreshadowing urge. Sometimes children do not even notice that they have tics and are surprised if they are asked a question about this or that condition.
Diagnosis of Tourette’s syndrome
There are certain criteria by which the diagnosis of Tourette’s syndrome becomes possible:
The debut of tics before the age of 18 (in some cases up to 20) years.
The movements of the patient are involuntary, repeated according to a certain stereotype. Multiple muscle groups are involved in the process.
The patient has at least one vocal tic.
Having multiple motor tics.
The duration of the course of the disease is more than a year.
The disease has an undulating character.
Tics are not caused by other conditions, such as medications.
It is mandatory to carry out a differentiated diagnosis and distinguish Tourette’s syndrome from the following diseases:
Chorea minor (movements are slow, worm-like, most often only hands and fingers are involved in the process);
Huntington’s chorea (tics are irregular, spasmodic, involving the limbs and face);
Parkinson’s disease (elderly people are susceptible, characterized by gait disturbance, rest tremor, mask-like face);
Taking medications (neuroleptics) against which neuroleptic tics can occur (these drugs are used to treat Tourette’s syndrome, so before starting therapy, you should thoroughly study all the patient’s tics);
Wilson’s disease;
Post-infectious encephalitis;
Autism;
Epilepsy.
The child must be examined not only by a neurologist, but also by a psychiatrist. Equally important is the dynamic observation of the patient, the collection of a family history.
Examinations that allow you to clarify the diagnosis and distinguish Tourette’s syndrome from other pathologies: MRI or CT of the brain, EEG, electromyography, electroneurography. It is also possible to take urine to determine the level of catecholamines and metabolites in it. An increase in the content of dopamine in the urine, homovanillic acid, and excretion of norepinephrine will indicate the disease.
Treatment of Tourette’s syndrome
Treatment of Tourette syndrome is an individual process. A specific scheme is selected based on the patient’s condition, and also largely depends on the severity of pathological manifestations. Mild and moderate degree of the disease lends itself well to correction using such psychological techniques as art therapy, music therapy, animal therapy. For a child, psychological support, a favorable emotional background in which he exists is extremely important.
Therapy can be optimal only if it is selected for a particular child:
With a mild degree of Tourette’s syndrome, only additional support provided to the child is sufficient. It is possible to adapt his environment, changes in the school process (for example, allowing a child with Tourette’s syndrome to perform control work not in the general class, but in a separate room and without limiting him in time). Often this is enough to reduce the symptoms of the disease. It’s good when the teacher goes to meet the parents. So, in the classroom, you can show children a scientific film about people with this disease.
If tics affect the quality of life of the patient, then he is shown medication, which will minimize the manifestations of the disease. The main drugs used in this case are antipsychotics (Pimozide, Haloperidol, Fluorphenazine, Penfluridol, Risperidone), adronomimetics (Clonidine, Catapress), benzodiazepines (Diazepam, Phenozepam, Lorazepam). Drugs are used only in extreme cases, since their use threatens the development of various side effects. A positive effect from the use of antipsychotics can be expected in about 25% of cases.
There is evidence that forms of Tourette’s syndrome that are resistant to conservative therapy are amenable to surgical correction using deep brain stimulation (DBS). However, at this point in time, this technique is at the stage of testing, therefore, it is forbidden to use it for the treatment of children. The method boils down to the fact that with the help of surgical manipulations, electrodes are introduced into certain parts of the brain. The apparatus with which the electrodes are connected is placed in the chest. He, at the right time, transmits a signal through the electrodes to the brain, preventing or preventing the development of the next tick.
Non-drug methods are also widely used, such as segmental reflex massage, exercise therapy, acupuncture, laser reflexology, etc.
In the long term for the treatment of Tourette’s syndrome, there are such methods as biofeedback therapy, injection of botulinum toxin to rid the patient of vocal tics. Positive effects were shown by treatment with Cerucal, however, in order to be able to use the drug in pediatric practice, additional, larger-scale trials are necessary.
Currently, Haloperidol remains the drug of choice. Its action is aimed at blocking dopamine receptors in the area of the basal ganglia. Children are advised to start with a dose of 0,25 mg per day with a weekly increase of 0,25 mg. In 24 hours, a child can receive from 1,5 to 5 mg of the drug, depending on his age and body weight. A drug such as Pimozite has fewer side effects compared to Gadloperidol, however, it is forbidden to use it for violations in the functioning of the heart.
The doctor to contact if you have symptoms of Tourette’s syndrome is a psychiatrist.
Against the background of the ongoing treatment, improvement in well-being can be achieved in 50% of patients after they enter adolescence or adulthood. If tics cannot be completely eliminated, then lifelong therapy is possible.
Although the disease does not affect the life expectancy of a person, it can disrupt its quality, and sometimes quite strongly. Patients are prone to depression, panic attacks and need constant psychological support from the people around them.
Practical advice for parents of children with Tourette syndrome
Self-enlightenment and enlightenment of the environment. Understanding what constitutes Tourette’s syndrome makes it possible to delve deeper into the problems of the child. The source of knowledge should be the attending physician, as well as information resources such as medical textbooks, journals and articles on this topic.
It is important to understand the mechanism that triggers the next tick. Recording what preceded the next vocal and behavioral disorder will help to build a logical chain and establish a push factor.
Making adjustments. If you make appropriate changes in the environment of a sick child, in the routine of his life, then you can reduce the number of tics. Often, breaks in homework, the possibility of additional rest at school, etc., help.
Rebuilding an existing skill. The child should be taught to control the tics. This must be done by a qualified person. To rebuild the skill, the child will need to have a clear understanding of tic behavior in order to subsequently learn how to correct it.
Regular meetings with the treating doctor. A qualified psychiatrist is obliged to conduct conversations and classes with the child, which are intended not only for psychological support, but also to help him cope with his thoughts, behavior, feelings. Members of the family where a child with this problem is growing up can also take part in the consultations.
Sometimes a child with motor tics should be allowed more time to type on the keyboard than to write by hand. School teachers should be made aware of this. Also, do not forbid the child to move or leave the class if he needs it. Sometimes these children should be given privacy.
If necessary, you can practice classes with a tutor or switch to home schooling.