Tourette's Syndrome

Introduction to Tourette Syndrome Tourette syndrome is also known as Tourette's syndrome (TS) or chronic multiple twitch (chronic multiple). Itard (1825) first reported that the French neurologist GeorgesGillesde LaTourette first described it in detail in 1885 and later named it. This disease is a group of sudden involuntary multiple twitching of the muscles of the head, limbs and trunk, which occurs in adolescence, accompanied by extra-pyramidal diseases characterized by explosive throat sounds or deaf words. It is characterized by multiple tics, involuntary vocalization, speech and behavioral disorders; it may be accompanied by obsessive-compulsive attitudes, personality disorders, and may also be associated with attention deficit hyperactivity disorder. basic knowledge The proportion of illness: 0.002% Susceptible population: occurs in adolescence Mode of infection: non-infectious Complications: OCD

Causes of Tourette Syndrome

Causes

It may be an autosomal dominant inheritance with a variation in penetrance manifestation; Cornings et al. believe that it is a polygenic genetic disease, and the patient has a 50% chance of transmitting the genetic factor to his or her offspring, and the genetic quality is in the offspring. It is not necessary to fully express the tics of the snoring syndrome. The patient may only show a slight twitching and obsessive compulsive behavior (OCB), or may only inherit the gene to the offspring without showing clinical symptoms.

The pathogenesis of Tourette Syndrome is unclear. Gene defects can lead to neuroanatomical abnormalities and neurobiochemical dysfunction. Most scholars speculate that this disease is related to neuronal dysfunction in the basal ganglia, prefrontal cortex, limbic system, etc. Genetic factors, neurobiochemical metabolism and environmental factors, the result of interactions during development.

Genetic factors (25%):

Many studies have suggested that genetic factors play an important role in the occurrence of this disease, the disease has a significant family tendency, 65% to 90% of cases of Tourette syndrome are familial, the incidence of single-oval twins with Tourette syndrome (53) % to 56%) is significantly higher than double egg growth (8%).

There is a great controversy about the genetic pattern of Tourette Syndrome. It is now considered to be an autosomal dominant inheritance with incomplete penetrance, and there is a gender difference in penetrance. Male penetrance is high (0.5~) 0.9), female penetrance rate is low (0.2 ~ 0.8), patients with Tourette syndrome have obsessive-compulsive symptoms or behavioral disorders are more common, the family history of mental illness is also more common, genetic studies believe that Tourette syndrome and obsessive-compulsive disorder There is a genetic correlation, which may be a different manifestation of the same genetic abnormality.

Patients with Tourette Syndrome have genetic defects, but so far, the study of the localization of genes in patients with Tourette's syndrome has not yet reached a definitive conclusion. In 1998, Simonic was a patient with convulsions in a South African Afrikaner population. A controlled study of patients with Tourette's syndrome found that the ticker syndrome gene linked to Europeans born in South Africa may be located at 2p11, 8q22 and 11q23-24.

Central nervous system organic damage (20%):

The imaging changes in the brain of patients with Tourette's syndrome are mainly in the basal ganglia, dystocia, asphyxia, premature delivery, convulsions and head trauma. Children's organic brain damage may be a risk factor for the onset of Tourette's syndrome, about 50 % of patients with Tourette Syndrome have mild neurological signs such as changes in muscle tone or fine motor impairment, and non-specific abnormal changes in EEG, which may support the disease as an organic disease.

Abnormal central nervous system (15%):

(1) Dopamine hyperactivity or dopamine receptor hypersensitivity: due to the movement and vocal tics of most patients with Tourette syndrome, it has a good effect on the treatment of selective central dopamine D2 receptor antagonist haloperidol, and thus most Scholars believe that the mechanism of Tourette Syndrome is related to hyperactivity of cortical dopamine in the basal ganglia and limbic system of the brain, or hypersensitivity to post-synaptic dopaminergic receptors, and decreased dopamine turnover rate.

(2) The role of sex hormones and excitatory amino acids: Recent studies suggest that basal ganglia and limbic systems have abnormal development of brain regions with basic reproductive functions, which may be related to Tourette's syndrome. The developmental abnormalities of these special brain regions are all in sex hormones. Under the control of tics, patients with snoring syndrome, such as touch, friction, sucking, sniffing, pelvic stretching and squatting behavior, may be inappropriate manifestations of reproductive behavior, while proverbs and explosive throat sounds such as dogs, Gasping, these sounds of sexual content may also be an inappropriate manifestation of reproductive behavior.

(3) Norepinephrine (NE) dysfunction hypothesis: low-dose clonidine can alleviate the symptoms of patients with Tourette syndrome, so the pathological mechanism of this disease is related to the involvement of NE system, and small dose of clonidine has stimulation Pre-acting 2 receptor action, thereby feedback inhibition of the synthesis and release of NE in the central blue-spotted area, which reduces the tic symptoms.

Mental factors (10%):

The disease may be related to psychosocial factors, trauma, life events (such as poor family environment, incorrect educational methods, parent-child unequal), excessive mental stress, stress or mood swings, can induce or aggravate tics, tics It may be the expression of desire to be suppressed and rebellious.

Infection and immune factors (8%):

Patients with slumber encephalitis with eye movements and herpes encephalitis may have clinical manifestations of Tourette's syndrome. Pathological anatomy and imaging findings of these patients revealed temporal lobe, basal ganglia, thalamus, midbrain cap and There are lesions around the midbrain tube, suggesting that the viral infection of the basal ganglia or limbic system may be related to the occurrence of Tourette's syndrome. The autoimmune process after streptococcal infection may be related to children's twitching and obsessive-compulsive symptoms; the study also found (Muller et al. , 2001), adult twitch syndrome patients with Streptococcus M12, M19 antibody titer increased.

Major pathological changes: There are few reports of neuropathology in patients with Tourette's syndrome. Balthasar (1957) found in an autopsy of Tourette's syndrome that there is an abnormal type of cell in the striatum-rich dopamine-bearing cell population. This change may be the pathological basis of Tourette's syndrome.

Haber's immunohistochemical study of an autopsy brain specimen from a patient with Tourette's syndrome found that the dynorphin-positive villus fibers in the lateral part of the globus pallidus and the ventral pallidus were completely absent or significantly reduced, suggesting that the striatum fibers were projected into the globus pallidus. The nerve fibers are abnormal.

Tourette syndrome prevention

With a genetic background, preventive measures include avoiding the marriage of close relatives, conducting genetic counseling, genetic testing of carriers, prenatal diagnosis and selective abortion to prevent the birth of children.

Tourette syndrome syndrome complications Complications

Common accompanying symptoms are: mood disorder, obsessive-compulsive disorder, attention deficit, hyperactivity, learning difficulties, disciplinary behavior, defamation and aggressive behavior, social adjustment difficulties, etc. Some patients have behavioral disorders, weird, such as compulsive behavior or thinking It shows difficult to control the touch object or other people, aimless hand-circling, biting the tongue, biting the finger, disfiguring, hitting the wall, throwing the arm and other self-injury behavior.

Symptoms of Tourette Syndrome Common Symptoms Mute Repeated Self- spoken Mental Disorder Involuntary Movement Myoclonus Hepatolenticular Degeneration Twisting Action Twitching Laryngeal

1. The disease has a family genetic predisposition, the age of onset is 2 to 18 years old, mostly starting from 4 to 12 years old, gradually decreasing after puberty, the symptoms are fluctuating, there may be changes within weeks or months, and the course of disease is longer. For a chronic course of disease, lasting at least 1 year, multiple tics are the main symptoms in the early stage. They usually start on the face, gradually develop into the upper extremities, trunk or lower limbs, and express the repeated rapid irregular twitching of the eye muscles, facial muscles, neck muscles or upper limb muscles. Exercise ), such as blinking, pouting, frowning, twitching nose, grimacing, hoeing, nodding, neck stretching and shrugging, etc., symptoms aggravated the limbs and trunk violent involuntary movements, throwing movements of the upper limbs, turning circles, kicking Legs, feet, torso bending and torsional movements, etc., twitching frequently up to 10 times or even hundreds of times a day, emotional, increased mental stress, reduced mental relaxation, disappeared during sleep.

2. Vocal sputum is another feature of this disease. 30% to 40% of children have repeated fulminant and meaningless monotonic abnormal throat sounds due to throat muscle twitching, such as bark, bark, snoring, squeaking and squeaking. Throat sounds, etc., as well as "clicks", "", "" and other sounds, some children unconsciously swear cursing, say vulgar, obscene language (slang), imitate other people's language and movements (imitation language, Imitate actions) and often repeat words or phrases (repeat language).

3. About 85% of children have mild to moderate behavior disorder, lightness is uneasy, agitation, irritability, about half of children with attention deficit hyperactivity disorder (ADHD), inattention, learning Poor, hyperactive, upset, and restless, some patients have forced behaviors such as repeated hand washing and door locks, as well as severe bite of the nail, licking the hair, picking up the nostrils, biting the lips or tongue, etc. Such as stress, itching, heat and cold, embarrassing behavior, excessive provocation and violence.

4. Children's intelligence is generally unaffected, sometimes learning ability is reduced, reading, writing and essays are difficult, and even normal school can not be completed. Learning is related to ADHD. Patients have certain control ability to curb involuntary twitching for a few minutes or longer. Time, examination usually can not find other abnormal signs, the course of the disease has eased recurrence.

Examination of Tourette Syndrome

1. Blood and cerebrospinal fluid routine tests are more normal.

2. Blood biochemical tests are generally normal, and sometimes 5-HT levels are found to decrease.

3.50%60% of patients may have mild EEG abnormalities, but no specificity, mainly slow wave or spike wave increase, and dynamic electroencephalogram (AEEG) abnormal rate can reach 50%.

4. The ECG is more normal.

5. The brain CT is more normal. The skull MRI examination may find that the volume of the basal nucleus on both sides is asymmetric, the bilateral caudate nucleus, the average volume of the lenticular nucleus is smaller than that of the normal control group, and the patients with the snoring syndrome with attention deficit. The left globus ball is significantly smaller than the right side.

6. Head SPECT examination showed that the temporal lobes, frontal basal and basal ganglia localized perfusion reduction area, Grunwald et al found that the local blood perfusion at the lesion site during the onset of twitching decreased, the episode increased, and this SPECT with epilepsy patients The images are similar in characteristics and have the same pathological basis as epilepsy, which needs further study.

Diagnosis and diagnosis of Tourette syndrome

Diagnostic criteria

Tourette syndrome is a complex neuropsychiatric disorder that is diagnosed primarily by medical history and clinical symptoms.

1. The diagnostic criteria for the 10th edition of the International Classification of Diseases and Classifications (ICD-10) are as follows:

(1) Most of the onset is before the age of 21, and the most common is 2 to 15 years old.

(2) There are a variety of exercise tics and one or more vocal tics in the course of the disease, but not necessarily at the same time.

(3) twitching has the characteristics of sudden, rapid, short-lived, repeated, involuntary, purposeless, recurring, etc., affecting multiple groups of muscles.

(4) Twitching can be controlled by the will for a short period of time (minutes to hours), exacerbated under stress, and disappears during sleep.

(5) The symptoms of tics are repeated many times a day, almost every day, or the duration of intermittent episodes is more than 1 year. In the same year, the symptoms are relieved no more than 2 months.

(6) Exclusion of rheumatoid chorea, Huntington's chorea, hepatolenticular degeneration, myoclonus, acromegaly and other extra-pyramidal diseases.

2. Revised Chinese Mental Disease Classification Scheme and Diagnostic Criteria (CCMD-2-R) Adopted by the Quanzhou Conference in 1994, the contents are as follows:

(1) Before the age of 21, most of them were between 2 and 15 years old.

(2) Mainly manifested as multiple tics and one or more involuntary vocalizations, both of which occur at some point in the course of the disease, but not necessarily at the same time.

(3) The symptoms of tics are repeated many times a day, almost every day, but the intensity of the symptoms changes within weeks or months, and can be restrained for several minutes to several hours, the disease lasts at least 1 year, and in the same year The symptoms are relieved no more than 2 months.

(4) Involuntary twitching and vocalization cannot be explained by other diseases.

Differential diagnosis

Pay attention to the identification of diseases that may have dyskinesia and tics during childhood:

1 habitual sputum: seen in boys aged 5 to 10 years old, for bad habits, mental factors or imitating other people's behavior, hyperactivity is more limited and shorter, can disappear on their own, no speech disorder and mental decline;

2 small chorea: in the near future, if there is no rheumatic fever, history of arthritis, and evidence of cardiac involvement, it is difficult to identify, small chorea is generally no vocal sputum, is a self-limiting disease, often disappears in 3 to 6 months, anti-rheumatic treatment effective;

3Wilson's disease: according to liver involvement, corneal KF ring, serum copper and ceruloplasmin abnormalities;

4 Bobble-head syndrome: A rapid rhythmic head swing occurs in children with progressive hydrocephalus.

The tics of the snoring syndrome needs to be differentiated from Huntington's disease, hand and foot hyperactivity, myoclonus and other diseases.

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