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Tourette Syndrome Causes, Symptoms, Diagnosis, Evolution And Prognosis

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Tourette Syndrome

Tourette Syndrome (TS), first described by Gilles from Tourette in 1885, is characterized by polymorphic vocal and motor tics that change frequently. Body tics mainly consist of repetitive involuntary movements individualized for each muscle group. Tourette syndrome is considered to be a  transmitted genetic disorder but the exact cause is yet unknown. Some studies have shown that an imbalance of neurotransmitters in the brain could play a key role in the determinism of  Tourette syndrome.

Tourette Syndrome Frequency

Full form is found with a frequency of 1 in 2500 while partial forms of expression (chronic motor tics and some forms of obsessive-compulsive disorder) are three times more frequent. Syndrome prevalence is estimated at about 1-3/1000 maximum 10/1000 persons. The tics of Tourette’s syndrome tend to reverse or reduce in older children the prevalence is higher in children than in the adult population. Community studies suggest that over 20% of school-age children have tics and 4% of them were diagnosed with Tourette syndrome.

Tourette syndrome occurs in all races, ethnic and social groups,  boys being 3-4 times more affected than girls. Mild forms are less diagnosed due to reduced presentation to specialized clinics.

Tourette Syndrome

Tourette Syndrome Genetic Aspects (Causes)

Genetic studies have shown that in most cases Tourette syndrome is a hereditary disease although the exact mode of transmission is not fully understood. A long period of time Tourette syndrome was considered a dominant autosomal pattern but recent research suggests that this is a model involving multiple additive genes (polygenic multifactorial disorder). In some cases, tics may not be hereditary and tend to appear sporadically (tourettism).

Genetic vulnerability of Tourette syndrome can be transmitted from one generation to another, child inheriting genetic or constitutional basis to develop tics, type and severity of Tourette syndrome varies with each generation although not all those who have inherited this vulnerability will present a clinical expression.

Thus there is a risk of 70% in women carrying the gene to develop Tourette syndrome, and 99% for men. Tourette syndrome also has a variable expression, family members may present different degrees of severity. Sex seems to play a key role in genetic vulnerability expression as men develop tics more often while women are especially affected by obsessive-compulsive symptoms.

Recent studies suggest that a small number of cases of Tourette syndrome can be caused by a defective gene located on chromosome 13, SLITRK1 while other cases of tourettism may be caused by other mutations. Patients with Tourette syndrome may have a genetic risk for developing other disorders such as depression or substance abuse.

Tourette Syndrome Symptoms

Motor tics

  1. Simple, fast, sharp, without any reason can be embarrassing or even painful (eg, blinking, grimacing, shoulder raise, contractions of a segment of the body)
  2. Complex motor tics, slow, apparently purposes may include virtually any type of normal body movement and ca affect school and work (including copropraxia and echopraxia) (jumping, clapping, touching objects, dystonic positions, rotation movements) Copropraxia is defined as obscene gestures, gestures or movements. Echopraxia = imitating other people.

Vocal tics

  1. Simple sounds and noises for no reason (eg, coughing, crying, barking, sounds, syllables).
  2. Complex: linguistic expression such as meaningful words and phrases (including coprolalia, echolalia and palilalia). Coprolalia = obscene words and phrases abusive or  social unacceptable, Palilalia = repeats his words or parts of words, Echolalia = repeats sounds, words or parts of others word rituals: repetition of a phrase until it “sounds good” or says something three or more times using atypical speech: speaking very with a fast pace.

Behavioral disorders

  1. Hyperkinetic disorder with attention and concentration deficiency – approximately 50% of children
  2. Obsessive-compulsive symptoms (need to touch objects several times, do the same thing several times until psychical comfort is achieved) emotional lability, irritability, impulsivity, self and heteroaggression (screaming, hitting walls with fists, threatened others, biting)
  3. Depression, sleep disturbances, various learning difficulties – approximately 30-40% of children

Symptoms may be classified as mild, moderate or severe depending on the frequency, complexity and degree of harm to patient activity. There is a huge variability of symptoms, frequency and severity based on shorter or longer periods of time.

Tourette Syndrome Symptoms

Tourette Syndrome Diagnosis

To establish the diagnosis of Tourette syndrome, the person must present various types of tics (specifically, multiple motor tics and at least one vocal tic) lasting at least for one year. The onset must occur before age 18 and not caused by direct functional effects of a substance or general medical conditions. There is no specific diagnostic test that can be used for Tourette syndrome. Diagnosis is determined by observation of the patient symptoms, family history (including tics, compulsions, attentional problems) after exclusion of other secondary causes that may induce motor and speech tics.

Investigations used to eliminate other illnesses with similar symptoms:

  • Clinical and neurological examination
  • EEG: often abnormal but nonspecific
  • CT and MRI scan: normal aspect
  • Bioassays: electrolytes, calcium, phosphorus, copper, ceruloplasmin, liver tests, TSH levels, urine drug screening tests.
  • Genetic counseling
  • Genetic counseling for persons with Tourette syndrome should include a complete listing of all potentially hereditary conditions in the family.
  • Currently there is no genetic or biochemical test to determine presents Tourette syndrome or it is perfectly healthy.

Prenatal Diagnosis. There is no prenatal test that can be used to determine genetic vulnerability Tourette syndrome.

Tourette Syndrome Evolution And Prognosis

Tourette syndrome persons have a normal life expectancy although symptoms may persist throughout life but the disorder is not degenerative and not life-threatening. The severity of tics diminish in most cases after adolescence and Tourette syndrome is extremely rare in adults. The prognosis is good, only a minority of children have severe symptoms that persist in the adult. To these may be difficulties in obtaining a service or to have a fulfilling social life.

Intelligence is normal in all patients with Tourette syndrome although they may encounter some learning difficulties. Symptoms can improve after disease understanding by the patient, family and friends. Maximum severity of tics is typical between the age of 8-12 years reducing with adolescence. A supportive family environment provides the necessary skills to cope with Tourette syndrome. Tourette syndrome patients can learn to camouflage socially their inappropriate tics or to channel energy from tics to a functional effort.

Children with Tourette syndrome (without ADHD association) perform more accurately  tasks requiring eye orientation and make fewer mistakes than their unaffected colleagues, suggesting compensatory brain changes that result in higher cognitive activity.