Gilles de la Turett's syndrome

Description:

Syndrome Touretta (a disease Touretta, a syndrome Giles de la Touretta) — genetically caused disorder of the central nervous system with manifestation at children's age which is characterized by multiple motor tics and at least one vocal tic.

Earlier Turett's syndrome was considered as a rare and strange syndrome, most often associated with bawling out of obscene words or socially inappropriate and offensive statements (eschrolalia). However this symptom is present only at smaller number of people with Turett's syndrome. Turett's syndrome is not considered a rare disease now, but it can be not always diagnosed truly because the majority of cases proceeds benign. From 1 to 10 children from 1000 have Turett's syndrome; more, than 10 on 1000 people have teak frustration. People with Turett's syndrome have I.Q. and life expectancy normal. Degree of manifestation of tics decreases at most of children when they finish teenage age, and heavy degree of a syndrome of Turett at mature age meets seldom. The famous people meet Turett's syndrome in all spheres of life.

Genetic and ecological factors play a part in an etiology of a syndrome of Turett, but exact causes of illness are unknown. In most cases treatment is not required. There are no effective medicines for each case of tics, but use of drugs and methods of treatment which facilitate a condition of the patient is justified. Training, an explanation of this disease and psychological support of patients — an important part of treatment planning.

Eponim was offered by Jean Martin Charco in honor of the pupil, Gilles de la Turett, the French doctor and the neurologist who published the report on 9 patients with Turett's syndrome in 1885.

Symptoms of the Syndrome of Gilles de la Turett:

Tics — the movements and sounds, "which arise periodically and it is unpredictable against the background of a normal physical activity",  similar to "a deviation of normal behavior".  The tics connected with Turett's syndrome differ by quantity, frequency, weight and anatomic localization. Emotional experiences increase or reduce expressiveness and frequency of tics at each patient individually. Also tics at some patients proceed "an attack behind an attack".

Eschrolalia (the spontaneous statement of socially undesirable or prohibited words or phrases) — the most common symptom of a disease of Turett, but it not patognomonichno for diagnosis of a syndrome as only at about 10% of patients it is shown. The echolalia (repetition of someone else's words) and a polylogia (repetition of one own word) arise less often, and most often at the beginning there are motor and vocal tics, respectively, in the form of blinking of eyes and cough.

Unlike pathological movements of other motive frustration (for example, a chorea, dystonias, a myoclonus and dyskinesia), tics at Turett's syndrome uniform, temporarily suppressed, spasmodic and often they are preceded by insuperable motivation. Just before the beginning of a tic most of people with Turett's syndrome experience strong motivation how if necessary to sneeze or scratch pruritic skin. Patients describe a desire to tics as increase of tension, pressure or energy  which they consciously release as they "need" to facilitate feelings or "to return themselves good health". Examples of such state: feeling of a foreign body in a throat or limited discomfort in shoulders that results in need to clear the throat or shrug shoulders. Actually the tic can be felt as release of this tension or feeling, as well as a scratching of pruritic skin. Other example — a blinking for relief of unpleasant feeling in eyes. These motives and feelings preceding emergence of movements or vocalism as to tics are called "prodromal touch phenomena" or prodromal desires. As desires precede, tics are characterized as semi-voluntary; they can be perceived as the "voluntary", suppressed answer to an insuperable prodromal desire. The descriptions of tics at Turett's syndrome defining touch phenomena as the main symptom of a disease are published even if they are not included in diagnostic criteria.

Reasons of the Syndrome of Gilles de la Turett:

The exact reason of a syndrome Turetta is unknown, but connection with genetic and ecological factors is established.  Genetic researches showed that the vast majority of cases of a syndrome of Turett are descended though the exact mechanism of inheritance is not known yet  and the specific gene  is not revealed.  In certain cases Turett's syndrome sporadic, that is is not inherited from parents.  Other frustration in the form of tics which are not connected with Turett's syndrome are called a turettizm.
The basal ganglia are at the brain’s center; related nearby structures are the globus pallides, thalamus, substania nigra, and cerebellum.
The structures of a brain connected with development of a syndrome of Turett

The person with a syndrome Turetta has about 50% probability of transfer of a gene(s) to one of the children, but Turett's syndrome — a state with a variable expression and incomplete penetrance. Thus, not at everyone who inherited this genetic defect symptoms will be shown; even at close relatives symptoms of varying severity can be shown or them in general can not be. The gene(s) can express in Turett's syndrome as a tic of easy degree (passing or chronic tics) or as obsessivno-compulsive symptoms without tics. Only an insignificant part of children who inherited a gene(s) have the symptoms requiring medical attention. A floor, apparently, influences an expression of a defective gene: at the man tics, than at women are more often shown.

Not - the genetic, ecological, infectious or psychosocial factors which are not causing Turett's syndrome are capable to influence its weight. Autoimmune processes can provoke emergence of tics and their aggravation in certain cases. In 1998 the group of the American scientists of National institute of mental health made a hypothesis that obsessivno-compulsive frustration and tics can arise at group of children as a result of post-streptococcal autoimmune process. Children in whom find 5 diagnostic criteria are classified according to this hypothesis as the having children's autoimmune psychological frustration associated with a streptococcal infection (English abbreviation of PANDAS). This disputable hypothesis is in the center of attention of clinical and laboratory trials, but remains unproven.

Tics, as believe — result of dysfunction of cortical and subcrustal structures of a brain, thalamus, basal ганглиев and frontal lobes. Neuroanatomic models explain participation in this syndrome of failures in neural bonds of cortical and subcrustal structures of a brain, and technologies of neurovisualization explain participation basal ганглиев and frontal crinkles.

Some forms of obsessivno-compulsive frustration can be genetically connected with Turett's syndrome.

Treatment of the Syndrome of Gilles de la Turett:

Treatment of a syndrome of Turett is directed to assistance to patients in management of the most problem symptoms.  In most cases Turett's syndrome proceeds benign and do not demand pharmacological treatment. Treatment (if it is required) is directed to elimination of tics and the accompanying states; the last at emergence often become more problem, than tics. Not all people with tics have the accompanying states, but if they arise, then treatment is focused on them.

There is no treatment of a syndrome of Turett and there are no drugs which would work universally for all people without considerable side effects. The understanding patients of the disease allows to manage teak frustration more effectively. Management of symptoms of a syndrome of Turett includes pharmacological and psychological therapy, the correct behavior. Pharmacological treatment is intended for heavy symptoms, other methods of treatment (for example, the supporting psychotherapy and cognitive and behavioural therapy), can help to avoid or soften a depression and social isolation. Training of the patient, a family and surrounding people (for example, friends, school) — one of the key strategy of treatment can also be all this that is required in mild cases. A haloperidol — the antipsychotic means used sometimes at treatment of hard cases of a syndrome of Turett.

Drugs apply when symptoms prevent normal life activity of the patient. Classes of drugs with the most proved efficiency in treatment of tics — typical and atypical antipsychotic drugs, the including Risperidon, Ziprasidon, the Haloperidol (Haldolum), Pimozidum and Fluphenazin — can cause long and short-term side effects. Anti-hypertensive means a clonidine and гуанфацин are also used for treatment of tics; researches showed variable efficiency, but the effect is lower, than at antipsychotic means.