Tourette syndrome: uncontrolled movements and cries, especially in children, but can also affect young people. Here are the treatments available today

Tourette syndrome is a not at all uncommon pathology that, according to ISS data, affects about 1% of the population, with juvenile and adolescent onset, so much so that it can be defined as a neurodevelopmental disease: it characterises, therefore, the maturation phases of the nervous system, with symptoms that often alter the quality of life of the subject and significantly affect social and family relationships.

What is Tourette Syndrome?

Tourette Syndrome (TS) is a neuropsychiatric disorder commonly known as ‘the disease of a thousand tics’ because patients who suffer from it manifest uncontrolled movements accompanied by involuntary sounds and vocalisations of varying complexity.

The condition has been known since antiquity, but was only described in more detail in clinical terms in Paris at the end of the 19th century by the French neurologist Jean-Martin Charcot and his student Gilles De la Tourette, from whom the condition takes its name.

Who is affected by Tourette syndrome?

Tourette’s syndrome mainly affects young people and adolescents (particularly men), and generally regresses with full brain development, which is reached around the age of 25.

In this regard, epidemiological data indicate that:

• 2/3 of cases the symptoms, which progress in an oscillating manner, subside after 15-16 years of age;
• in only one third of cases do the disorders persist, but they decrease in severity and become more controllable with the passage of time, so the need for treatment is also reduced.

Symptoms

Symptoms generally appear at around 5-7 years of age and may increase or decrease in subsequent years.

In any case, transient tics are not uncommon in the developmental stages and a diagnosis of Tourette syndrome can be made when the disorders persist for more than a year, the subject presenting, in addition to motor manifestations, at least one sound/vocal tic.

Regarding the type of tics, moreover, it is possible to make a classification in the categories of simple tics and complex tics.

Simple tics

Simple tics are those that generally involve only one type of muscle and may be, for example:

• blinking;
• grunting;
• coughing;
• blowing;
• sniffing;
• shouting;
• grind teeth;
• turning the neck.

Complex tics

Complex tics, which activate more than one type of muscle, are:

• kicking;
• jumping;
• imitating the gestures of others (ecopraxia);
• producing vulgar and obscene gestures (copraxia).

Tics manifest themselves with a varied clinical picture and in general can be controlled through an intense effort required of the patient.

In the presence of situations that cause anxiety, stress, or a certain emotional impact on the subject, however, control is loosened and the tics become more manifest: this is an important clarification, since all too often tics are simply labelled as psychogenic, i.e. linked above all to the person’s emotional behaviour.

Symptoms in ‘2Plus’ forms

Some more complex forms of Tourette’s syndrome are defined as 2 Plus: in addition to motor/sound tics, there are other symptoms that characterise other disorders:

• inattention, motor restlessness typical of ADHD (Attention Deficit Hyperactivity Disorder);
• obsessive thoughts that lead to repetitive and uncontrollable behaviour without logic, typical of OCD (Obsessive-Compulsive Disorder).

The sound picture with the emission of swear words, profanity, etc. (coprolalia) is not as frequent as one might think, although it characterises the collective imagination of the syndrome itself.

It should be noted that obsessive-compulsive symptomatology is the symptom that disappears less frequently in adulthood and that it is capable in itself of significantly altering the patient’s quality of life.

Problems of inattention and motor hyperactivity are more frequent in youth, often compromising school performance.

The causes of Tourette Syndrome

The causes of Tourette’s syndrome are not yet fully known, but it seems to be based on

• genetic predisposition, i.e. ticular or obsessive-compulsive cues can often be detected in the parents of Tourette’s subjects;
• malfunctioning of the basal ganglia: from a neurophysiological point of view, the disorder can be framed in a context of malfunctioning of the basal ganglia and in general of the extrapyramidal system of the brain (the one in charge of non-voluntary and automatic movements);
• infections: they are a trigger for tics when the infecting agent finds a genetically predisposed terrain and a nervous system (SN) that is still developing and therefore unable to put in place appropriate control mechanisms (usually due to streptococcus betoemolyticus type A, which causes common ear and tonsil infections).

Diagnosis of Tourette Syndrome

To date, there are no instrumental tests that allow the diagnosis of Tourette’s disease.

In particular, nuclear magnetic resonance imaging or electroencephalograms are of no use, but are essential:

• electrocardiogram (ECG) to rule out concomitant cardiac pathologies;
• a blood test to confirm the occurrence or active presence of an infection (TAS).

The diagnosis is mainly observational, clinical and multifaceted.

This explains why recognition of the syndrome all too often comes too late, after long and fruitless courses of action.

It has been calculated that most cases take 4-5 years to reach a correct diagnosis.

Differential diagnosis

At the diagnostic stage, other problems, not related to Tourette Syndrome, which may cause the tics and symptoms of the disease, must also be excluded, such as

• eyesight problems
• allergies;
• autism (which however complicates complex Tourette’s forms in 5-10%);
• taking certain drugs;
• neurological disorders other than Tourette’s syndrome, such as dystonia (a pathology that causes involuntary muscle contractions), Huntington’s disease (a rare genetic disorder that causes degeneration of the cells of the central nervous system), etc. Imaging techniques such as computed tomography and magnetic resonance imaging can help refine the diagnosis in this case.

How to treat Tourette Syndrome

There are different levels of severity of the disease, ranging from ‘blinking’, i.e. repeated and involuntary blinking, to acts of self-harm; i.e. severe forms.

To date, unfortunately, there is no specific therapy, but several therapeutic strategies to control the symptoms in relation to the physical and socio-familial problems that this may cause.

The treatment activity is multidisciplinary and also involves different specialist figures such as:

• neurologist
• psychologist;
• psychiatrist
• child neuropsychiatrist;
• social workers;
• pedagogists.

Cognitive-behavioural techniques

Cognitive-behavioural therapy allows the subject to gain greater control over the physical and psychological aspects of the illness, while also managing any collateral problems such as self-esteem deficits and relational difficulties.

In particular, the techniques of:

• Habit Reversal: the objective is to make the subject aware of both the premonitory sensations (the sensations that, generally, the subject affected by Tourette Syndrome feels before the tic and that disappear after having performed it) and of the act itself and its consequences, learning to recognise the activities and moods that can trigger the mechanism, so as to replace that tic with an alternative behaviour.
• Exposure and response prevention (ERP) the patient is gradually exposed to the stimulus for which his reaction is the occurrence of the tic, learning to restrain himself and develop resistance.

Drug therapy in Tourette syndrome

Pharmacological treatment follows the English expression ‘go low and slow’, i.e. a low dosage administered in a gradual manner with therapies that, if prescribed by experts, can have generally minor side effects.

Medications used for Tourette Syndrome include:

• psychotropic drugs (neuroleptic drugs) such as dopamine antagonists, which regulate certain brain processes related to the neurotransmitter dopamine;
• alpha2-adrenergic receptor agonists, which stabilise levels of the neurotransmitter noradrenaline;
• muscle relaxants, which, as the word implies, relax the muscles;
• low-active anxiolytics;
• Antidepressants acting on serotonin.

Surgery, cerebral neurostimulation and transcranial stimulation

For refractory and very serious cases (generally adults) when the ticcosa pathology is associated with ‘disabling’ obsessive-compulsive disorder, there are also more or less invasive techniques, which may require surgery as an extreme ratio.

Deep Brain Stimulation (DBS), for example, involves implanting electrodes in the patient’s brain which, when connected to a generator, send electrical impulses capable of modulating the neuronal activity underlying certain disorders of the disease.

This is the same technique used to treat Parkinson’s disease.

Recently, non-invasive techniques such as Transcranial Magnetic Stimulation (TMS) and Direct Current Stimulation (tDCS) have also been used.

These use the activity of a magnetic field or continuous electrical currents to modulate the activity of the nervous system and limit the disorders induced by Tourette’s syndrome.

While these techniques offer immediate improvement, they have the limitation of a temporary effect and limited effectiveness.

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Source:

GSD