Tourette's syndrome

Tourette syndrome is a neuropsychiatric disorder that begins in childhood and is characterized by multiple motor and vocal tics, as well as a combination of behavioral disturbances, which often dominate the clinical picture. The latter include symptoms of OCD and attention deficit hyperactivity disorder (ADHD). Tourette syndrome is named after the French neurologist Georges-Gilles de la Tourette, a student of Charcot, who in 1885 described 9 cases that correspond to the modern definition of the syndrome (Tourette, 1885). However, the first medical observation of a case that can be attributed to Tourette syndrome was presented by the French physician Itard (Itard, 1825). He described a French aristocrat who was forced to spend her life in seclusion due to involuntary shouting of swear words. But the earliest known reference to Tourette's syndrome in human history appears to be in the witchcraft treatise Malleus Maleficaram (The Hammer of Witches). It tells of a man who lived in the 15th century:

"When he entered any church and knelt before the Virgin Mary, the devil made him stick out his tongue. And when they asked him why he could not restrain himself, he answered: "I cannot help myself, since he commands all my limbs and organs, my neck, tongue, lungs, as he pleases, making me speak or cry; I hear the words as if I were pronouncing them myself, but I am completely unable to resist them; when I try to pray, he rules me even more powerfully, pushing my tongue out."

In accordance with modern terminology, involuntary protrusion of the tongue can be defined as copropraxia - a type of complex motor tic (see below). It can be argued that blasphemous thoughts are obsessions (intrusive, disturbing ideas for the patient), but the actions of the patient that arise under their influence, unlike compulsions, do not neutralize this discomfort, but rather give rise to a new one. Although patients with OCD may experience anxiety in connection with actions caused by unwanted impulses, in practice this is rarely observed.

During life, Tourette syndrome and similar chronic tics are detected in 3.4% of people and almost 20% of children attending special schools. Males suffer more often than females. Manifestations of Tourette syndrome can persist throughout the patient's life and significantly disrupt his social adaptation. Unfortunately, no significant achievements in the treatment of Tourette syndrome have been noted recently.

Pathogenesis of Tourette syndrome

Tourette syndrome is believed to be inherited as a monogenic autosomal dominant disorder with high (but not complete) penetrance and variable expressivity of the pathological gene, which is expressed in the development of not only Tourette syndrome, but possibly OCD, chronic tics - XT and transient tics - TT. Genetic analysis shows that XT (and possibly TT) may be a manifestation of the same genetic defect as Tourette syndrome. A study of twins has shown that the concordance rate is higher in monozygotic pairs (77-100% for all tic variants) than in dizygotic pairs - 23%. At the same time, significant discordance in the severity of tics is observed in identical twins. Genetic linkage analysis is currently underway to identify the chromosomal localization of the possible Tourette syndrome gene.

What happens in Tourette syndrome?

Symptoms of Tourette Syndrome

Tics include a wide repertoire of motor or vocal acts that the patient experiences as forced. However, they can be inhibited by an effort of will for some time. The degree to which tics can be inhibited varies depending on their severity, type, and temporal characteristics. Many simple and rapidly performed tics (for example, rapidly following one another blinking movements or head jerks) are not amenable to control, whereas other tics, which are more reminiscent of purposeful movements, since they occur in response to an internal imperative urge, can be inhibited. Some patients try to disguise tics. For example, an adolescent may replace scratching the perineum with more socially acceptable touching of the abdomen. Over time, the location of tics and their severity change - some tics may suddenly disappear or be replaced by others. Such changes sometimes create the erroneous impression that patients are able to voluntarily eliminate some tics and perform others. A survey of patients showed that approximately 90% of them experience tics preceded by an unpleasant sensation that forces patients to perform an action or make a sound and can be described as an imperative urge.

Signs of Tourette Syndrome

Diagnostic criteria and methods for assessing Tourette syndrome

Transient tics are common, occurring in about a quarter of school-age children. The diagnosis is established when tics persist for at least 4 weeks but not more than 12 months. Several episodes of transient tics may precede the development of chronic tics or Tourette syndrome. Chronic tics (CT) are motor or vocal tics (but not a combination of both) that persist for more than 1 year. The diagnostic criteria for Tourette syndrome require the presence of multiple motor tics and at least one vocal tic, not necessarily at the same time. For example, a 16-year-old boy with multiple motor tics but no vocal tics at the time of examination would be diagnosed with Tourette syndrome if he had vocal tics at age 12. Many consider the distinctions between Tourette syndrome and chronic multiple motor tics to be artificial, especially given the similar inheritance patterns reported in genealogical studies. Symptoms of Tourette syndrome must persist for more than 1 year, with remissions lasting no longer than 3 months. According to the DSM-TV, the disorder must begin before age 18, although this criterion has varied in the past. If tics begin after age 18, they should be classified as "tics not otherwise specified."

Diagnosis of Tourette syndrome

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Medications Used for Tourette Syndrome

First of all, the physician must decide whether drug therapy is indicated for the given severity of symptoms. Drug trials for Tourette syndrome are complicated by the wave-like course with exacerbations and remissions, which do not necessarily occur under the influence of drugs. Short-term fluctuations in the severity of symptoms do not necessarily require immediate changes in the treatment regimen. The overall goal of treatment is to partially alleviate symptoms: complete drug suppression of tics is unlikely and is associated with the occurrence of side effects.

Special educational programs are needed for the patient, his family, and school personnel to promote understanding of the disease and development of tolerance to symptoms. Comorbid disorders can be the main cause of discomfort and impaired social adaptation. Adequate treatment of comorbid ADHD, OCD, anxiety, and depression sometimes reduces the severity of tics, probably due to improvement of the psychological state of the patient and stress relief.

Treatment of Tourette syndrome

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