There Tourette syndrome (St) is a neurological disorder characterized by the presence of tic engines and vowels. It is an often misunderstood condition, subject to prejudices and stereotypes, which can negatively influence the life of the people who are affected. Therefore, symptoms and causes with the aim of making people and promoting the inclusion of individuals suffering from this syndrome must be informed of each stigmatization.
What is Tourette syndrome
The syndrome takes its name from the French neurologist Georges Gilles de la Tourette, who described it for the first time in 1885. It is a neurological disorder with childhood debutcharacterized by the presence of Motor and vocal tics for a period of more than one year. According to the DSM-5 (diagnostic and statistical manual of mental disorders) and the ICD-10 (international classification of diseases), for the diagnosis it is necessary that i tic are multipleeven if not necessarily contemporary. In fact, tic engines are not always accompanied by verbal tics. As for the verbal aspect, in some cases, people with Tourette syndrome cannot control turpiloquy, insults and swear words.
In this clinical picture, Tic can vary in intensity and frequency, distinguishing themselves from other movement disorders. Unlike transient tics, which can manifest themselves in some children and disappear spontaneously, Tourette syndrome is one persistent condition which can change over time.
Main symptoms
The symptoms of Tourette syndrome are mainly in the form of Tic simple engines Through short and repetitive involuntary movements, such as winking, nose movements, head shaking. On the contrary, complex engine tics are characterized by more elaborate sequences such as jumping or making specific gestures. Then there is a range of simple vocal tics which manifest themselves with an involuntary emission of sounds, grunts, coughs or continuous lightening of throat. Finally, among the most complex symptoms at the vocal level, we can identify words or phrases repeated involuntarily, or coprolalia (vulgar words and insults).
Some individuals may also manifest self -harm (e.g. bite or beat), which can derive from the severity of the tics. The syndrome presents itself with avariable intensity according to age: symptoms tend to be more evident in childhood and adolescence, with possible improvements in adulthood.
How to live with Tourette syndrome
Tourette can influence different aspects of daily life, with a particular impact on the area of social relations. In fact, people with Tourette syndrome are often victims of prejudices, bullying and isolation.
In addition, it is possible that – in this condition – difficulty concentration, high states of anxiety as well as adaptation problems, can create many obstacles in learning and working production.
The emotional impact and the inner experience of affected subjects is characterized by frustration, stress and anxiety, situations in which family support and the social context play a fundamental role in helping symptoms management.
Causes and risk factors
The Causes of Tourette syndrome they are not yet completely understood, but research suggests one combination of genetic and environmental factors.
Among the family factors, the Psychiatric diagnosis of parentsin particular of the motherhave been associated with a diagnosis of Tourette syndrome in the offspring (Leinoven et al., 2017; Jones, 2021). In fact, large studies on neurological and psychiatric disorders have highlighted a high genetic correlation between psychiatric disorderssuggesting a significant overlap of common genetic variants (Deng et al., 2012).
This could also explain why people with psychiatric disorders, in particular those with Tourette syndrome, have a increased risk to develop the Obsessive-compulsive disorder (DOC) and episodes of major depression.
From a neurobiological point of view you can find some alterations in some brain areaslike the base ganglia and the frontal cortex that favor the appearance of Tic (Felling & Singer, 2012).
A genomic level-analysis based on cells and tissues, conducted on a database of 714 healthy adult donors with samples collected by 53 distinct human fabrics (coming from the brain and other locations), revealed that the most interested brain regions From the genes involved in the Tourette syndrome there are the dorsolateral prefrontal cortex, followed by the frontal cortex, the striato and the cerebellum (Yu et al., 2019).
In addition, recent progress in understanding neuroimmunity are of particular interest in Tourette syndrome, since the deficits of neurological development could derive from both external factors, such as maternal inflammation that leads to fetal neurinflammation, and from perturbations of genetic neuroimmunological paths caused by genetic variants. Some peripheral markers, such as type 1 and 2 myeloid cells, involved in the pathogenesis of autoimmune disorders, they also support the hypothesis of an alteration of the dialogue between immune system and brain in the Tourette syndrome, suggesting that immunomodulation could represent a promising path for treatment (Jones et al., 2021).
THE environmental factors They play an important role where infections are manifested, exposure to toxic substances or stress during pregnancy.
Tourette syndrome is often associated with other disorders like theADHDThe obsessive-compulsive disorder e theanxiety.
Diagnosis and clinical path
Different evaluation stairs can be used for the analysis of symptoms in people with touette syndrome of any age group, but the Yale Global Tic Severity Scale (YGTSS) is the most commonly used tool. Given the variability and fluctuations of the symptoms, the guidelines recommend the use of multiple methods to measure their gravity, including direct observation in environments both inside and outside the clinic, the collection of historical information from the individual and his family and the evaluation based on video.
There diagnosis and the assessment of Tourette syndrome can be complex because of his clinical heterogeneityof the possibility of suppressing tics and fluctuations of symptoms over time and in different conditions. Diagnosis may delay up to 3-11 years from the debut of symptoms, and it is estimated that about 73% of patients receive an incorrect initial diagnosis. However, this estimate is based on patients’s self -signs, highlighting the poor awareness and knowledge of Tourette syndrome both in the general community and among the health professionals (Johnson, 2024).
Support and treatment strategies
Currently There is no definitive cure for Tourette syndromebut different strategies can help manage symptoms. There psychotherapy (cognitive behavioral) is an integral part as well as the drug therapy which helps the person in the management of symptoms and level of anxiety. A environment including and informed It improves self -esteem and quality of life of the person with Tourette.
At the level of drugs, aldoperidol is very effective, but with potential extrapyramidal effects (on the movement). Equally effective in reducing tics, but they can have significant side effects are pimozide and Risperidone.
Tourette syndrome is a complex condition that can have a significant impact on the life of those who are affected. However, with the right support and adequate information, it is possible to improve the management of symptoms and encourage greater social inclusion.
