Neuroscience for everyone. Case history: Tourette's syndrome

There are diseases that provide food for conversation and numerous anecdotes. One such disease is Tourette's syndrome.

The subject of jokes was the fact that patients shout obscene words. Moreover, the disease manifests itself in childhood, and obscene language coming from a child will leave few people indifferent. In fact, coprolalia - a painful, sometimes irresistible, impulsive urge to shout obscenities for no reason - does not develop very often, in only 10% of cases.

The first symptoms usually appear between 4 and 8 years, but in rare cases the pathology can develop later. The main symptom is a tic, both motor and vocal. Tic is an uncontrolled and repetitive movement of the limbs that usually occurs unexpectedly and does not go away for at least a year. The intensity and frequency of tics changes as the pathology develops. Approximately half of all those suffering from Tourette syndrome get rid of this pathology with age, while the remaining half are forced to put up with it throughout their lives.

Previously, Tourette's syndrome was considered a rare and strange syndrome associated with shouting obscene words or socially inappropriate and offensive remarks (coprolalia). However, this symptom is present only in a minority of people with Tourette syndrome. Tourette's syndrome is not currently considered a rare disease, but it cannot always be diagnosed correctly because most cases are mild. Between 1 and 10 children in 1,000 have Tourette syndrome; more than 10 per 1000 people have a tic disorder. People with Tourette syndrome have normal intelligence and life expectancy. The severity of tics decreases in most children as they reach adolescence, and severe Tourette syndrome is rare in adulthood. Famous people with Tourette's syndrome are found in all walks of life.

What kind of disease is this?

Tourette's syndrome is a neuropsychiatric disorder that is accompanied by involuntary vocal and motor tics, as well as deviations in human behavior.

Moreover, the most important sign of the disease, especially in older age, is obscene language, which a person can shout at any time without any reason. Unexpected laughter, sharp scratching, unnatural twitching of facial muscles, spontaneous movements of arms and legs - these are the main symptoms of the disease that are beyond the control of the patient.

Typically, the first signs of the disease become noticeable at a young age, around 3-5 years. In most cases, the pathology affects boys. The disease can be inherited and passed from generation to generation.

ethnoscience

Folk remedies cannot cure Tourette's syndrome; the symptoms can only be slightly alleviated.

To get rid of irritability, you need to brew teas from medicinal herbs.

Peppermint

. The menthol contained in mint removes nervousness, and if you brew mint tea and add honey, you can enhance the effect.

Melissa officinalis

. The plant relieves insomnia, relieves migraines, and relieves cramps. Contraindicated for low blood pressure and allergies.

pharmaceutical camomile

. The chamomile component, chrysin, normalizes the psycho-emotional background, helps cope with the effects of stress, and reduces anxiety. Chamomile relieves itching, pain, and increases appetite. Chamomile is contraindicated for stomach ulcers, pregnancy, allergies, a tendency to diarrhea, and psychosis.

You can make decoctions or infusions from medicinal plants.

Tansy, calendula, oregano

. To prepare the infusion you will need 1 tablespoon of each component. After mixing tansy, calendula, oregano, pour 500 ml of boiling water over them, then let it brew for 15 minutes. Strain through a sieve. Consume throughout the day, dividing into three servings.

Chamomile, linden, St. John's wort

. You need to take each ingredient so that you get 2 tablespoons in total. Pour the mixture with 2 cups of boiling water, cook for 5 minutes over low heat, then leave to stand for 1 hour. You need to use the product three times a day, 1/3 cup.

Story

This syndrome was first described in 1884 by Gilles de la Tourette, who at that time was a student of a psychiatrist from France, Jean-Martin Charcot. The doctor based his conclusions on a description of observations of a group of patients consisting of nine people. Not much earlier, in 1825, the French physician Jean Itard published an article in which he described the symptoms of seven men and three women, very similar to the symptoms described by Tourette. But the very first mention of a similar disease occurs in 1486 in the book “The Witches' Hammer,” which tells about a priest with vocal and motor tics.

Reasons for development

The disorder is associated with disturbances in the central nervous system. The exact causes of Tourette's syndrome are still unclear. There are several hypotheses:

1. Genetic. According to scientists, the disorder occurs more often in children of parents who themselves suffered from involuntary tics in childhood. This happens in approximately 50% of cases. Uncontrolled movements often manifest themselves differently than in parents or close relatives. Sometimes obsessive states occur instead of tics. The severity of symptoms of the disorder also varies between children and parents.
2. Autoimmune. Pathology occurs as a result of a previous disease caused by streptococci.
3. Neuroanatomical. Associated with disruption of the brain, in particular, pathology of the frontal lobes, thalamus, and basal ganglia.
4. Dopamine. According to one theory, the occurrence of involuntary disorders is associated with high levels of dopamine.
5. Metabolic disease. According to this hypothesis, Tourette's syndrome occurs due to magnesium deficiency. Completing the deficiency and simultaneously taking vitamin B6 can help get rid of tics.
6. Unfavorable pregnancy. During intrauterine development, the fetus experiences hypoxia, the influence of toxicosis, alcohol or nicotine. Under the influence of these factors, neurotic disorders arise.
7. Impact of neuroleptics. The side effect of psychotropic substances is that they cause involuntary movements.

Pathogenesis

There is an opinion that the onset of central nervous system dysfunction was a hereditary predisposition. If a person is diagnosed with the syndrome, then his descendants have a 50% chance of getting this disease. The syndrome is characterized by variable expression and incomplete penetration. With variable expression, the severity of the pathology in individuals with the same pathological genotype differs, which means that relatives with this diagnosis have a different symptomatic picture. Incomplete penetration means that the gene mutation is present, but there is no clinical picture. It's like an all or nothing situation.

Among the supposed versions of the occurrence of a psychoneurological problem, failures of intracerebral mechanisms are suspected:

• improper migration of neurons at the stage of embryonic development;
• impaired functioning of dopamine pathways (sets of neurons that synthesize dopamine, a neurotransmitter responsible for pleasure);
• improper cortical inhibition (inhibition of reflexes) of programs embedded within the basal ganglia (ganglia).

Symptoms and first signs

The first symptoms of Tourette's syndrome are usually detected by the patient's relatives at a young age. From about three years of age, the child suddenly begins to twitch, make frequent repetitions of sudden movements, and suddenly screams. As the disease progresses, the baby may begin to involuntarily repeat the movements of other people, imitate them, and shout offensive words.

The most common vocal tics are:

• echolalia (repeating spoken phrases after other people);
• coprolalia (shouting obscene words);
• palilalia (constant repetition of one word or sentence).

Before the onset of a tic, the patient begins to feel emotional uplift and excitement, the tension inside grows so strongly that he cannot cope with his body and either begins to twitch or make sounds. Then relief comes, after the attack is over, the person comes to his senses and calms down.

According to the tic severity scale, there are 4 stages of the disease:

1. A mild degree is sometimes invisible to those close to you. The patient copes well with emotional stress, controls his behavior and can live a full life. Sometimes there are long periods without tics.
2. Moderate is more noticeable, the patient cannot completely restrain himself.
3. A severe degree practically deprives a person of the ability to control his behavior; he has difficulty existing in society, work and everyday activities are difficult.
4. The severe degree is completely uncontrollable, motor and vocal tics are very pronounced, the patient is incapacitated.

Classification

Symptoms of the disease can be different (sound, motor tics). In turn, these tics are usually divided into simple and complex .

Depending on the frequency of occurrence of tics and their severity, there are 4 degrees of severity of the disease:

1. Easy . Manifestations of the pathology are practically invisible, tics are short-lived, mild in nature, and occur relatively rarely.
2. Moderate . Tics become more frequent and intense, disturbances are already noticeable to others, however, the child tries to control his actions, which he almost always succeeds in.
3. Expressed . The child practically loses control over involuntary actions and vocal manifestations of the disease.
4. Heavy . Tics occur more often, are pronounced, and the child cannot control them.

Diagnostics

Tourette syndrome is diagnosed if the doctor detects motor or vocal tics in the patient that do not stop throughout the year. Presence of other mental or neurological disorders, including childhood history of involuntary movement disorders, such as dystonia, or mental disorders, such as repetitive movements.

There are no special diagnostic systems or laboratory tests that can accurately identify the syndrome. But some tests that you may be asked to undergo may rule out concomitant pathology that can cause the same symptoms as Tourette's syndrome. Computed tomography (CT), electroencephalogram (EEG), and magnetic resonance imaging (MRI), or biochemical blood tests can rule out secondary neurological pathology.

Very often, the diagnosis is made on the basis of family history, when one of the relatives suffers from this disease. Many patients self-diagnose their disease after they notice characteristic symptoms. If you notice in yourself or your relatives the symptoms described above and less pronounced manifestations, such as decreased attention, perseverance, unmotivated and uncontrollable actions that the person himself cannot explain, you must urgently contact a psycho-neurologist or neurologist.

What to do and how to treat Tourette's syndrome?

Treatment for Tourette syndrome aims to help patients manage the most problematic symptoms. In most cases, Tourette's syndrome is mild and does not require pharmacological treatment. Treatment (if required) is aimed at eliminating tics and associated conditions; the latter, when they occur, often become more problematic than tics. Not all people with tics have underlying conditions, but if they do, treatment focuses on them.

There is no cure for Tourette's syndrome, and there are no medications that work universally for all people without significant side effects. Patients' understanding of their disease allows them to more effectively manage tic disorders. Management of symptoms of Tourette's syndrome includes pharmacological therapy, psychotherapy, and correct behavior. Pharmacological treatment is reserved for severe symptoms, but other treatments (eg, supportive psychotherapy and cognitive behavioral therapy) may help avoid or alleviate depression and social isolation. Education of the patient, family, and surrounding community (eg, friends, school) is one of the key treatment strategies and may be all that is required in mild cases.

Medicines are used when symptoms interfere with the patient's normal functioning. The classes of medications most proven to be effective in treating tics—typical and atypical antipsychotics, including risperidone, ziprasidone, haloperidol, pimozide, and fluphenazine—can cause long- and short-term side effects. The antihypertensive drugs clonidine and guanfacine are also used to treat tics; studies have shown variable effectiveness, but the effect is lower than that of antipsychotics. Studies on the use of metoclopramide (Cerucal)[44] for Tourette's syndrome (generalized tics and vocalizations in children) have shown positive results, but doctors note that larger trials are needed for use in pediatric practice.

For compulsions, problems with concentration and depression accompanying Tourette's syndrome, tricyclic antidepressants, SSRIs (for example, fluoxetine), and lithium are used.

Treatment

Treatment of the disease directly depends on the clinical picture of the syndrome and the age of the patient. There is no single treatment regimen for pathology; each case requires an exclusively individual approach. So, for mild and moderately severe stages, a course of reflexology, music therapy, art therapy and animal therapy will be sufficient. Relaxing massage sessions over several months will not hurt either.

For a sick child, first of all, it is important to create an atmosphere of warmth, care and love. This should be given special attention, since the pathology causes more psychological than physical harm. For example, at school, children with the slightest deviations are often teased or ridiculed. In such a situation, the child should feel the love of his parents. It is important for him to know that there are always close people nearby who can come to the rescue in the most difficult situation. It is in this case that the disease will cease to bother you already in puberty. At the same time, you should not burden your child with studies; if desired, you can transfer him to home schooling.

It is also necessary to explain to the baby that he is no different from his friends, he just has his own characteristics. A child with the syndrome cannot be reproached for his behavior during attacks of tics that happen to him. It is better to simply encourage expressions of friendliness, empathy and compassion towards the people around him. Attention should also be paid to the child’s self-esteem. Very often in children with a similar disorder it is extremely low.

In the early stages of the development of pathology, specialists try to help a person in a conservative way, mainly through non-drug therapy: exercise therapy, acupuncture, laser reflexotherapy. At the same time, the patient must undergo a course of psychotherapy, which will help deal with accumulated problems and anxieties. Such an effect has a positive effect not only on the syndrome itself, but also on the deviations that appeared along with it. For example, apathy, anxiety, suspiciousness and lack of attention.

Drug therapy

Pharmacological treatment is necessary in cases where the pathology significantly affects the patient’s quality of life. Most often, experts prescribe antipsychotics (Orap, Haldol), benzodiazepines (Seduxen, Relanium), and adrenergic agonists (Gemiton, Barklid).

To improve the functioning of the central nervous system, antihypertensive drugs that lower blood pressure are recommended: Clonidine, Guanfacine; for obsessive states – “Fluoxetine”. The use of such medications must be strictly prescribed by the attending physician, since all medications have side effects and can be addictive if the dosage is not met.

Surgical intervention using a deep effect on brain cells is also known. But this method is not widely used, since it is still experimental and has not been fully studied.

Lifestyle

Practical recommendations for parents with children with Tourette syndrome

1. Rebuilding an existing skill. You should try to teach your child to control his 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.
2. Regular meetings with your treating doctor. A qualified psychiatrist is obliged to conduct conversations and sessions with the child, which are aimed not only at psychological support, but also at helping him cope with his thoughts, behavior, and feelings. Members of the family where the child with this problem is growing up can also take part in the consultations.
3. Own education and education of the environment. Understanding what Tourette's syndrome is allows us to delve deeper into the child's problems. The source of knowledge should be the attending physician, as well as information resources such as medical textbooks, magazines and articles on this topic.
4. It is important to understand the mechanism that causes the next tick to be triggered. Recording what preceded the next vocal and behavioral disorder will help you build a logical chain and establish the trigger factor.
5. Making adjustments. If you make appropriate changes in the environment of a sick child, in his life routine, you can reduce the number of tics. Often, breaks from doing homework, the possibility of additional rest at school, etc. help.
6. Sometimes it is worth allowing a child with motor tics to spend more time typing on a keyboard rather than writing by hand. School teachers must be informed about this. Also, do not prohibit your child from moving around or leaving the classroom 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.

Forecast

Treatment of the syndrome usually brings positive results. After just a few months, patients’ condition stabilizes and the first improvements become noticeable. To do this, the patient only needs to visit a neurologist and psychologist, as well as special classes that are aimed at relaxing the nervous system.

Only in severe cases, when therapy was carried out poorly or untimely, tics can become lifelong. At the same time, patients become prone to depression and antisocial behavior. Quite often they experience panic attacks and inadequate reactions to surrounding events. But, despite the severe symptoms, Tourette's syndrome does not affect a person's life expectancy and intellectual development.

Therefore, in most cases, people with this disorder live long and happy lives.

Nervous tics and tremors in a child: causes and treatment Raynaud's syndrome Irritable bowel syndrome Raynaud's disease (syndrome): symptoms and treatment Parkinson's disease Patau's syndrome