Causes, symptoms and treatment of Tourette's syndrome
Tourette's syndrome is a disorder of 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 obsession. This is how the priest who suffered from this genetic disorder was named for the first time in the book "Hammer of the Witches" (1489). The eponym for this disease was given in honor of the neurologist Gilles de la Tourette, at the initiative of his teacher J. M. Charcot. It was Gilles de la Tourette who described in 1885 the state and behavior of 9 people suffering from this syndrome in the form of a report. Nevertheless, even before Tourette himself, this condition was described more than once by various authors.
The disease is currently rare. Up to 0.05% of the population suffer from it. The syndrome manifests for the first time in the age range between 2-5 years or between 13-18 years. Moreover, two-thirds of the sick are males, that is, boys get sick three times more often than girls. Familial cases can be traced in one 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 it is mild and often remains undiagnosed. The intelligence level and life expectancy of such people are not affected.
Although scientists currently associate the development of the disease with genetic, environmental, neurological and other factors, 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 for such sciences as: psychology, neurology, psychiatry.
Content:
- Causes of Tourette's Syndrome
- Symptoms of Tourette's Syndrome
- Diagnosing Tourette's Syndrome
- Treatment for Tourette's syndrome
Causes of Tourette's 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 illness are described within one family: among brothers, sisters, and fathers. In addition, hyperkinesis of varying severity occurs in close relatives of children with Tourette's symptom.
Scientists suggest that Tourette's symptom is transmitted in an autosomal dominant mode of inheritance with incomplete penetrance. However, autosomal recessive inheritance should not be ruled out as well as polygenic inheritance.
It is assumed that a person with Tourette's syndrome passes genes to one of their children in 50% of cases. However, reasons such as variable expression and incomplete penetrance explain the appearance of symptoms of varying severity in close relatives, or their complete absence. However, 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, it is believed that gender influences gene expression. Sons whose mothers suffered from Tourette's syndrome are at greatest risk of developing the disease. Women who are carriers of 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 background of the 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, research on this subject has not yet been completed.
Dopaminergic hypothesis
The onset of Tourette's syndrome is explained by changes 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 dopamine production, 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 the patient is taking dopamine receptor antagonist drugs.
In addition, scientists note a number of factors that can provoke the development of the syndrome
Tourette, among them:
- Toxicosis and stress suffered by a pregnant woman.
- Taking anabolic steroids, drugs and alcoholic beverages while carrying a child.
- Intrauterine fetal hypoxia with disturbances in the functioning of the central nervous system.
- Prematurity of the 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's syndrome are as follows:
- Parents begin to notice certain oddities in their behavior in their children. Children make grimaces, 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, squats.
- From an early age, children are capricious, restless, inattentive, very vulnerable. Due to such high emotionality, it is difficult for them to establish contact with 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 at ease.
- 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 capable of hitting their heads, pressing on their eyes, biting their lips strongly, etc. As a result, patients independently inflict quite serious injuries on themselves.
- Vocal 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, puffing, humming, hissing, and screaming. When vocal tics are introduced into the process of a person's monologue, the illusion of stuttering, stuttering and other problems with the patient's speech is created.
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Sometimes patients cough non-stop, sniffle. Similar manifestations of Tourette's syndrome can be mistaken for symptoms of other diseases, for example, for rhinitis, tracheitis, sinusitis, etc.
Patients are also characterized by such speech disorders as:
- Coprolalia - uttering obscene words (is not
- A pathognomonic symptom, since 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 characterized by obsessive-compulsive traits. Coprolalia is a serious symptom of the disease, as it contributes to social maladjustment. A person pronounces swearing loudly, sometimes even shouts out. The phrases are abrupt.
- Patient behavior during an attack can be very eccentric. They can grunt, crunch fingers, swing 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 emergence of a certain aura. Perhaps the appearance of a lump in the throat, pain in the eyes, itching, etc. As the patients explain, it is these subjective sensations that force them to reproduce this or that sound or phrase. The tension goes away immediately after the tick ends. The stronger the patient's emotional experiences, the more often and more intense the tics, both vocal and motor, will be.
- The intellectual development of patients does not suffer. But motor and speech tics influence his learning and behavior.
- Other symptoms of Tourette's syndrome are behavioral reactions, expressed in excessive impulsivity, aggression, and emotional instability.
- The disease reaches its peak by adolescence, and as maturity approaches, it declines, or disappears altogether. Nevertheless, it is possible that the symptoms of the disease persist throughout a person's life. In 25% of cases, the disease is latent and worsens after a few years. Complete remission is rare.
Depending on how severe the patient's symptoms are, several degrees of Tourette's syndrome are distinguished:
- Easy degree. The patient is able to control all vocal and movement abnormalities without any problems. Sometimes these disorders remain unrecognized by the people around them. In addition, asymptomatic periods are possible, although they are fairly 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 he does it with great difficulty. The signs of illness are obvious to everyone around you.
- Severe degree. Vocal tics and motor tics are pronounced. The muscles of the trunk and limbs are involved in the process. A person is not able to control the symptoms of the disease.
Features of tics in Tourette's syndrome
Tics in Tourette's syndrome have characteristic features. So, movement disorders are always monotonous, for a while the patient can suppress them. There is no rhythm.
Another distinctive feature of tics is that they are preceded by an urge 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 must be released. This must be done in order to normalize your condition, to return the previous "good" state of health.
Patients indicate that they have a lump in the throat, discomfort in the shoulder girdle. This prompts them to shrug their shoulders, or to clear their throat. In order to get rid of the unpleasant sensation in the eyes, people begin to blink frequently. Prodromal sensory phenomena, or prodromal urges - these are the names of these urges that patients experience before tics.
Moreover, not every patient, especially in childhood, is able to assess 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.
Diagnosing Tourette's Syndrome
There are certain criteria that make the diagnosis of Tourette's syndrome possible:
- The onset of ticks under the age of 18 (in some cases up to 20).
- The patient's movements are involuntary, repeated according to a certain stereotype. The process involves multiple muscle groups.
- The presence of at least one vocal tic in the patient.
- The presence of 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 medication.
It is imperative to carry out a differential 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);
- Chorea of Huntington (tics are irregular, spastic, limbs and face are involved);
- Parkinson's disease (elderly people are susceptible, characterized by impaired gait, resting tremor, mask-like face);
- Taking medications (neuroleptics) against which neuroleptic tics may occur (these drugs are used to treat Tourette's syndrome, therefore, before starting therapy, you should thoroughly study all the tics in the patient);
- Wilson's disease;
- Post-infectious encephalitis;
- Autism;
- Schizophrenia;
- Epilepsy.
The child must be examined not only by a neurologist, but also by a psychiatrist. Dynamic observation of the patient, collection of family history is equally important.
Examinations that make it possible to clarify the diagnosis and distinguish between Tourette's syndrome and other pathologies: MRI or CT of the brain, EEG, electromyography, electroneurography. It is also possible to collect urine to determine the level of catecholamines and metabolites in it. An increase in the content of dopamine, homovanillic acid, and excretion of norepinephrine in the urine will indicate a disease.
Treatment for Tourette's syndrome
Treatment of Tourette's syndrome is an individual process. The specific scheme is selected based on the patient's condition, and also largely depends on the severity of pathological manifestations. A mild to 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 specific 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, enabling a child with Tourette's syndrome to perform control work not in the general classroom, but in a separate room and not limiting it in time). This is often enough to reduce symptoms. It is good when the teacher meets the parents. So, in the classroom, you can show children a scientific film about people with this disease.
- If tics affect the patient's quality of life, then he is shown drug treatment, which will minimize the manifestations of the disease. The main drugs that are used in this case are antipsychotics (Pimozide, Haloperidol, Fluorophenazine, Penfluridol, Risperidone), adronomimetics (Clonidine, Catapress), benzodiazepines (Diazepam, Fenozepam, Lorazepam). The drugs are used only in extreme cases, since their intake 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 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 testing stage, therefore, it is prohibited to use it for the treatment of children. The method boils down to the fact that with the help of surgical manipulations, electrodes are inserted into certain parts of the brain. The apparatus to 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 tic.
- Non-drug methods are also widely used, such as: segmental reflex massage, exercise therapy, acupuncture, laser reflexology, etc.
- In the future, the treatment of Tourette's syndrome is such methods as biofeedback therapy, injection of botulinum toxin to get rid of the patient from vocal tics. Treatment with Cerucal has shown positive effects, however, in order to be able to use the drug in pediatric practice, it is necessary to conduct additional, larger trials.
At this point in time, 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 the 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 Pimosit has fewer side effects compared to Gadloperidol, however, it is prohibited to use it for disorders in the functioning of the heart.
The doctor to see if you have symptoms of Tourette's syndrome is a psychiatrist.
Against the background of the treatment, improvement of well-being can be achieved in 50% of patients after their adolescence or adulthood. If tics cannot be completely eliminated, then therapy can be carried out throughout life.
Although the disease does not affect a person's life expectancy, 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 with children with Tourette's syndrome
- Own enlightenment and enlightenment of the environment. Understanding what is Tourette's syndrome provides an opportunity 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 causes the next tick to start. Recording what preceded the next vocal and behavioral disturbance will help to build a logical chain and establish the jerk factor.
- Making adjustments. If you make the appropriate changes in the environment of the sick child, in the routine of his life, then the number of tics can be reduced. Breaks from homework, the possibility of additional rest at school, etc., often help.
- Rebuilding an existing skill. The child should be taught how to control tics. This should be done by a qualified specialist. 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 a child, which, as their purpose, have not only psychological support, but also assistance in coping with his thoughts, behavior, feelings. Members of the family where the child with this problem grows up can also take part in consultations.
- Sometimes a child with motor tics should be given more time to type on the keyboard than to write by hand. School teachers should be informed about this without fail. Also, do not forbid the child to move or leave the classroom if he needs it. Sometimes these children should be given privacy.
If necessary, you can practice with a tutor or go home schooling.
Author of the article: Sokov Andrey Vladimirovich | Neurologist
Education: In 2005 completed an internship at the IM Sechenov First Moscow State Medical University and received a diploma in Neurology. In 2009, completed postgraduate studies in the specialty "Nervous diseases".
