What is Syndrome de la Tourette?
It is characterized as a neuropsychiatric disease with multiple motor and voice tics (blinking, coughing, pronunciation of phrases or words, for example, “no”), which are intensifying, then weakening. It occurs in childhood or adolescence, has a chronic course and is accompanied by neurological, behavioral and emotional disorders. Gilles de la Tourette’s syndrome is most often hereditary.
Gilles de la Tourette first described this disease in 1885, having studied it at the Charcot Clinic in Paris. Modern ideas about Gilles de la Tourette’s syndrome were formed thanks to the work of Arthur and Elaine Chapiro (60-80s of the XX century).
Reasons for Syndrome de la Tourette
The morphological and mediator bases of the syndrome were revealed in the form of diffuse disorders of functional activity mainly in the basal nuclei and frontal lobes. The role of some neurotransmitters and neuromodulators, including dopamine, serotonin and endogenous opioids, is assumed. The main role is played by a genetic predisposition to this disorder.
Prevalence
Data on the prevalence of the syndrome is controversial. Fully expressed de la Tourette syndrome occurs 1 in 2000 (0.05%). The risk of illness throughout life is 0.1-1%. In adulthood, the syndrome begins 10 times less than in children. Genetic data indicate autosomal dominant inheritance of Gilles de la Tourette syndrome with incomplete penetrance. The greatest risk of developing this disease is the sons of mothers with de la Tourette syndrome. Family accumulation of Gilles de la Tourette syndrome, chronic tic and obsessive neurosis is shown. Carriage of the gene that causes Gilles de la Tourette’s syndrome in males is accompanied by an increased likelihood of a neurosis of obsessive states in females.
Symptoms of Syndrome de la Tourette
The presence of multiple motor and one or more voice ticks is characteristic, although not always simultaneously. Ticks occur many times during the day, usually paroxysmally, almost daily or intermittently for a year or more. The number, frequency, complexity, severity and localization of ticks vary. Voice tics are often multiple, with explosive vocalizations, obscene words and phrases (coprolalia) are sometimes used, which can be accompanied by obscene gestures (copropraxia). Both motor and voice tics can be arbitrarily suppressed for a short time, aggravated by anxiety and stress, and occur or disappear during sleep. Tics are not associated with non-mental illnesses, such as Huntington’s disease, encephalitis, intoxication, and movement disorders caused by drugs.
Gilles de la Tourette’s syndrome is wave-like. The disease usually begins before the age of 18, at 6-7 years, tics of the muscles of the face, head or neck appear, then within a few years they spread from top to bottom. Vocal tics usually appear at 8-9 years old, and at 11-12 obsessions and complex tics join. 40-75% of patients have features of attention deficit hyperactivity disorder. Over time, the symptoms stabilize. A frequent combination of the syndrome with partial developmental delays, anxiety, aggressiveness, and obsessions is noted. Children with Gilles de la Tourette syndrome often have learning difficulties.
Diagnosis of the Syndrome de la Tourette
Most difficult with chronic ticks. For tic disorders, repeatability, speed, irregularity, and spontaneousness are typical. At the same time, some patients with de la Tourette’s syndrome believe that tic is an arbitrary reaction to the sensation that precedes it. This syndrome is characterized by a wave-like course with onset in childhood or adolescence.
- Sydenham’s chorea (small chorea) is a consequence of a neurological complication of rheumatism, with it there are choreic and athetous (slow worm-like) movements, usually hands and fingers and body movements.
- Huntington’s chorea is an autosomal dominant disease, manifested by dementia and chorea with hyperkinesis (irregular, spastic movements, usually of the limbs and face).
- Parkinson’s disease is a disease of late age, characterized by maskiness of the face, impaired gait, increased muscle tone (“gear wheel”), resting tremor in the form of “rolling pills.”
- Drug extrapyramidal disorders develop during treatment with antipsychotics; it is most difficult to diagnose late antipsychotic hyperkinesis. Since antipsychotics are used in the treatment of Gilles de la Tourette’s syndrome, it is necessary to describe in detail all the disorders the patient has before starting medication.
Treatment for Syndrome de la Tourette
It is aimed at reducing tic manifestations and social adaptation of the patient. A large role is played by rational, behavioral, individual, group and family types of psychotherapy. Containment training (or the type of similar-like tick fatigue) is recommended, even against the backdrop of successful medical treatment.
Medication is today the main method of therapy. Treatment begins only after a full examination, with minimal doses of drugs with a gradual increase over several weeks. Preferably start with monotherapy. To date, haloperidol remains the drug of choice. It blocks D2 receptors in the area of the basal ganglia. Children are prescribed with 0.25 mg / day, increasing by 0.25 mg / day. weekly. The therapeutic range is from 1.5 to 5 mg / day., Depending on age. Pimozide is sometimes preferred, which has a greater affinity for the nerves of the striatum than for the mesocortical. It has fewer side effects than haloperidol, but it is contraindicated in heart disease. Doses from 0.5 to 5 mg / day. Other antipsychotics are also used – fluorophenazine, penfluuridol.
Clonidine alpha2-adrenergic receptor stimulator is effective. Its action is associated with the stimulation of presynaptic receptors of noradrenergic endings. It significantly reduces irritability, impulsivity, and attention disorders. Dose 0.025 mg / day. with a subsequent increase every 1-2 weeks to medium therapeutic from 0.05 to 0.45 mg / day.
Drugs that affect serotonergic transmission are applicable – clomipramine (10-25 mg / day), fluoxetine (5-10 mg / day), especially in the presence of obsessions. Sertraline, paroxetine may be effective, but experience with their use is insufficient. The effect of benzodiazepines, antagonists of narcotic analgesics, and some psychostimulants is being studied.
In all cases, educational work among patients and their families, academic and vocational rehabilitation are recommended.