Saturday 15 November 2014

Gilles de la Tourette syndrome

Definition

Gilles de la Tourette syndrome is an inherited neuropsychiatric disorder with onset in childhood, characterized by multiple physical tick disorder (motor) and at least one tick vocal (phonic). Tik typically occurs tides, can be suppressed temporarily, and preceded by the encouragement that can be tagged. Tourette's is defined as part of a spectrum of disorders tick, which includes transient and chronic tick. The term was first discovered by Jean-Martin Charcot (1825-1893) on behalf of wilayahnyanya resident, Georges Albert Édouard Brutus Gilles de la Tourette (1859-1904), a French physician and neurologist, who published an overview of the nine patients with Tourette in 1885.



Disorders tick is defined as repeated and rapid muscle contractions that produce movement or vocalization that is perceived as something that involuntar. Children and adolescents may exhibit behavior that occurs after the tick of a stimulus or in response to internal drive. Disorders tick is a group of neuropsychiatric disorders that typically begins in childhood or adolescence and can constantly-improving or deteriorating over time. Although ticks are not on their own, in some people, can tick pressed for a period of time.

Tourette's was once considered as a rare and bizarre syndrome, most often associated with words that are not obscene or socially inappropriate comments and degrading (coprolalia), but these symptoms are present in only a small percentage of people with Tourette's. Tourette's is no longer considered a rare condition, but these disorders are not always correctly identified because most cases mild and tick severity decreased in most children when as they go through adolescence. Between 0.4% and 3.8% of children ages 5 to 18 may have Tourette's, the prevalence of transient and chronic tick at a higher school-age children, the tick is more common such as eye blinking, coughing, throat clearing, breathing , and facial movements. Extreme Tourette's in adulthood is rare, and Tourette's does not affect the intellectual or life expectancy.



epidemiology

Boys: young girls = 3-5: 1.

The prevalence is estimated to 0.03 to 1.6%, but many mild cases that escaped medical attention.

Onset is usually 7-8 years of age.

As many as two-thirds of patients experienced improvement in their symptoms as adults, but the total improvement is rare.

There is a high comorbidity with anxiety (anxiety), depression, obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD).

             Tourette disorder lifetime prevalence estimated 4 to 5 per 10,000. More children who demonstrate these disorders than adults. The onset of the motor component of this disorder usually occurs at the age of 7 years; vocal tic appears on average at the age of 11 years. Disorders Tourette's happened about three times more often in boys than in girls. This disorder is also more common in white children than other races.

A neural and behavioral disorders (neurobehavioral disorder), characterized by the action of the unconscious, is rapid (brief involuntary actions), in the form of vocal tics and motorcycles, is also accompanied by psychiatric disorders (psychiatric disturbances).

etiology

Genetics: 50% in monozygotic twins, 8% in dizygotic. Neurochemical: dopamine in the caudate setting weak nucleus. Tourette syndrome can be triggered (triggered) by stimulants such as methylphenidate and dextroamphetamine, as well as an imbalance (imbalance) or hypersensitivity to neurotransmitters, especially dopamine and serotonin. managed to find a candidate locusuntuk Gilles de la Tourette syndrome / obsessive compulsive disorder / chronic tic disorder, which is the locus 18q22.

Genetic and environmental factors play a role in the etiology of Tourette's, but the exact cause is not known. In most cases, no treatment is necessary. There is no effective treatment for each case tick, but certain medications and therapy can help when their use is justified. Education is an important part of any treatment plan, and explanation and reassurance alone are often sufficient treatment process. Comorbid conditions such as attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), which is present in many patients. Other conditions that often cause more functional for the individual than the tick that is the hallmark of Tourette's, it is important to correctly identify comorbid conditions and treatment.



Genetic factors

The fact that Tourette disorder and vocal tic disorder or chronic motor is more likely to occur in the same family to provide support to the view that these disorders are part of a spectrum of genetically determined. Evidence in some families indicates that Tourette disorder derived autosomal dominant manner.

Up to half of patients with Tourette's disorder also experience attention-deficit disorder / hyperactivity (ADHD). Up to 40 percent of patients with Tourette's disorder also have obsessive-compulsive disorder (OCD). In addition, first-degree relatives of people with Tourette's disorder have a higher risk for this disorder, motor disorder or chronic vocal tic and obsessive-compulsive disorder. Given the presence of ADHD symptoms in more than half of patients with Tourette's disorder, the question arises about the genetic relationship between these two disorders.



Factors Neurochemistry and Neuroanatomis

Strong evidence for the involvement of the dopamine system in tic disorders include the observation that pharmacological agents that mengantagonisasi dopamine-haloperidol (Haldol) - suppress tics and that agents that increase central dopaminergic activity-amphetamine-tend to worsen tic. Tic relationship with the dopamine system is not simple, because in some cases, antipsychotic drugs, such as haloperidol, are not effective in reducing tics and tic disorders stimulant effect on the reported diverse. In some cases, Tourette's disorder appear during treatment with antipsychotic drugs.

Endogenous opiates may be involved in tic disorders and obsessive-compulsive disorder. Some evidence suggests that pharmacological agents that antagonize endogenous opiates. Abnormalities in the system nonadrenergik related in some cases by reducing tics with clonidine (Catapres). This adrenergic agonists reduce the release of norepinephrine in the central nervous system (CNS) so as to reduce activity in the dopaminergic system. Abnormalities in the basal ganglia cause a variety of movement disorders, such as Huntington's disease, and disorders of the basal ganglia may also occur in Tourette's disorder, obsessive-compulsive disorder, and ADHD.



Immunological factors and post-infective

Autoimmune process due to streptococcal infection identified as a potential mechanism of Tourette disorder. This process can work synergistically with genetic susceptibility to the disorder. Pascastreptokokus syndrome is also associated with a potential causative factor in the onset of OCD, which is present in nearly 40 percent of people with Tourette disruption.

pathophysiology

Tourette syndrome is thought to be a genetic disorder, although no specific genes were identified. Recent evidence suggests a complex inheritance pattern with one or a few major genes, many places (multiple loci), low penetrance, and environmental influences.

Families who have had children with Tourette's syndrome, then the next child at risk 25% suffer from Tourette's Syndrome.

Although the pathophysiology of Tourette syndrome is unknown, but suspected a change in the neurotransmission of dopamine, opioids, and second messenger systems.



Diagnosis and Clinical Symptoms

Motor tics can be simple (eg, eye blinking uncontrollably, blinking repeatedly, often lifting-shrug) or complex (eg, imitating the movement of others or echopraxia).

Vocal tics can be simple sound (such as bark) or a single word. Classical vocal tics including said slob (coprolalia) and imitating or repeating what others say (echolalia). Tics are often exacerbated by physical or emotional stress.

To make a diagnosis of Tourette's disorder, clinicians should obtain a history of multiple motor tics and the emergence of at least one vocal tic at a time in this disorder. According to the DSM-IV-TR, tics must occur many times a day nearly every day or intermittently for more than 1 year. The average age of onset of tics is 7 years old, but can appear as early as age tic 2 years. The onset must occur before age 18 years.
a. Multiple motor tics and one or more vocal tics have been there at some time during the illness, although not necessarily simultaneously.
b. Tic occur several times a day (usually in the attack) nearly every day or intermittently throughout a period of more than 1 year, and during this period there was never a tic-free period for more than 3 consecutive months.
c. The onset is before age 18 years.
d. This disorder is not caused by the direct physiological effects of a substance (eg, stimulants) or a general medical condition (eg Huntington's disease).

Source
: American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorder .. Text rev. Washington, DC: American Psychiatric Association


In Tourette's disorder, the initial ticks occur on the face and neck. Over time, tick tends to occur with a downward direction. The most common tick tick which is depicted on the neck and the head, arms and hands, body and lower extremities, as well as respiratory and digestive systems. Obsessions, compulsions, attention difficulties, impulsivity, and personality problems associated with Tourette disorder. Attentional difficulties often precede the onset of tick while obsessive-compulsive symptoms often appear after the onset. Many tick has aggressive or sexual component that can cause serious social consequences in patients. In phenomenological, tick resembles the failure to censor, either consciously or unconsciously, with increased impulsivity and an inability to inhibit a thought to translate into action.

There is no specific laboratory diagnostic test for Tourette disorder; but many patients with Tourette's disorder have findings electroencephalogram (EEG) nonspecific abnormal. Approximately 10 percent of all patients with Tourette's disorder showed some specific abnormalities on computed tomography scan (CT).



  diagnosis

Tick ​​to be distinguished from other movement disorders (eg, dystonic, koreiform, atetoid, myoclonic, and movement hemibalismik) and neurological diseases with a typical movement disorders (eg, Huntington's disease, parkinsonism, korea Sydenham, and Wilson's disease). Tremor, manerisme, and stereotyped movement disorder, include movements such as shaking, staring at the hand, and self-stimulating behaviors, appears to be voluntar and often provide a sense of comfort, the opposite of the tick disorder. Although in children and adolescents can be felt can be controlled or not, tic rarely cause a sense of comfort. Compulsion kdang-tic sometimes difficult to distinguish biologically complex and may be in the same continuum. Tic disorders can also be there along with a lot of mood and behavior disorders. In children with Tourette's disorder and ADHD, tic disorders even if the light always, the frequency of disruptive behavior problems were high and the mood disorders is still there. Autistic children and children with mental retardation may show symptoms similar to those found in angguan tics, including Tourette's disorder.

Management of

Consideration of the overall functioning of the child or adolescent is the first step in determining the most appropriate treatment for tic disorders. Starting treatment with a comprehensive education for families is important, so that children do not accidentally ticnya punished for behavior. It is also important for families to understand the nature of a lot of tic disorders improved and deteriorated. Other behavioral techniques-including massed (negative) practice, self-monitoring, training pronged response is not appropriate, the presentation and eliminating the positive encouragement, as well as habit reversal therapy.

Patients with mild symptoms only require education and counseling (for themselves and their family members)

The drug is indicated if the tics really disturbing activity or decrease the overall quality of life.

Generally, treatment is started with the administration of agonist clonidine, starting with a low dose and increased dose and frequency gradually, until the results are satisfactory.

Guanfacine (0.5-2 mg / day) is a new agonist preferred by many doctors because the dose only once a day.

If this is not effective, can be given antipsychotics. Atypical neuroleptics (risperidone 0.25 to 16 mg / day, olanzapine 2.5 to 15 mg / day, ziprasidone 20-200 mg / day) was chosen because it is associated with decreased risk of extrapyramidal side effects.

If this is not effective, classical neuroleptics such as haloperidol, fluphenazine, ataupimozide can be given.

Injections of botulinum toxin is effective for controlling the vocal tics involving small muscle groups.

According to Le T, et.al. (2008) and Stead LG, et.al. (2004), can be given supportive psychotherapy and pharmacotherapy, such as group neuroleptics, benzodiazepines, and others. Neuroleptics, such as haloperidol, risperidone. Benzodiazepines, such as clonazepam, diazepam. More like: clonidine, pimozide.

According to Moe PG, et al (2007), medication for Tourette syndrome and tics are as follows:

A. Dopamine blockers

1. Haloperidol (Haldol)

2. pimozide (Orap)

3. Aripiprazole (Abilify)

4. Olanzapine (Zyprexa)

5. risperidone (Risperdal)

B. serotonergic drugs

1. Fluoxetine (Prozac)

2. Anafranil (Clomipromine)

C. noradrenergic drugs

1. Clonidine (Catapres)

2. guanfacine (Tenex)

D. Other

1. Clonazepam (Klonopin)

2. Baclofen (Lioresal)

3. Pergolide (Permax)

Remarks:

* For dopamine blockers, many of which are antipsychotics.

* Serotonergic drugs particularly useful for obsessive-compulsive disorder.

* Useful mainly noradrenergic drugs for attention deficit hyperactivity disorder (ADHD).

* Includes "some off-label use", for example: Aripiprazole (Abilify) and olanzapine (Zyprexa).

* Non-pharmacological therapy for example: education of patients, family members, school friends of patients, modifying the school environment so that patients do not feel tense or depressed, supportive counseling at school and outside of school.

Psychological techniques

Various psychological techniques have been used in the treatment of Tourette syndrome. The first technique used was 'not only to demonstrate the efficacy of the drug, but also to show the negative practices' (excessive exercise to tick the target by the patient, which in the end will not be seen by a mechanism called reactive inhibition). However, subsequent literature showed inconsistent results using this method. Other psychological treatment that has proven useful in Tourette syndrome termsuk assertiveness training (Mansdorf, 1986), self-monitoring (Billings, 1978) and cognitive therapy (O'Connor et al., 1993). Relaxation therapy (Bergin et al., 1998), on the other hand, and van de Wetering suggested model of treatment based on a certain tension reduction technique where, instead of tick that occurs in response to a particular sensory stimulus, patients are taught alternative responses more socially acceptable which also reduces the sensory stimulus (Evers and van de Wetering, 1994). In general, the author is not too impressed with the psychological techniques for the treatment of ticks, as a lot of documentation in the literature only nerupa anecdotes and, in his experience, the results have not been particularly encouraging. The main use for the technique psychobehavioural in TS is related to OCS / OCB (obsessive-compulsive symptoms / behavior) in which an important addition to drugs.

 pharmacotherapy

Provision of conventional antipsychotics, high potential, such as haloperidol, trifluoperazine (Stelazin), and pimozide (Orap) were shown to have a significant effect of reducing tick. Discontinuation of these drugs is often based on the adverse effects of drugs, including extrapyramidal effects and dysphoria. Haloperidol is not approved for use in children under 3 years of age. The clinician must first warn the patient and family about the possibility of an acute dystonic reactions and symptoms of Parkinson's when it will start treatment with conventional antipsychotic drugs or antipsychotic "atypical" newer. Antipsychotic "atypical" newer marketed today, including risperidone and olanzapine (Zyprexa), is often chosen as a therapeutic option compared to conventional antipsychotics in the hope the side effects will be lighter. Even with atypical antipsychotics, diphenhydramine (Benadryl) or benztropine (Cogentin) is often needed to control extrapyramidal side effects.

Although clonidine, a noradrenergic antagonist, is not currently approved for use for Tourette's disorder, which is reported to be effective in various studies; 40 to 70 percent of patients benefit from this drug. In addition to the improvement of the symptoms of tick, the patient may experience less stress and increased attention span. Α-adrenergic agonists other, guanfacine (Tenex), have also been used in treating disorders tick. In case of frequent comorbid behavioral tick with obsessive-compulsive symptoms or OCD, drug selective serotonin reuptake inhibitors (SSRIs) have been used alone or in combination with antipsychotics in the treatment of Tourette disorder. Some data suggest that SSRIs, such as fluoxetine (Prozac), can help.

Although clinicians should weigh the risks and benefits of the use of stimulants in cases of severe hyperactivity and tick that is the same, a recent study reported that methylphenidate does not increase the number or intensity of vocal or motor tics in most children with tic disorders and hyperactivity.

2.1. prognosis

Regardless of severity of symptoms, patients with Tourette's have a normal life span. Although the symptoms may occur lifelong and chronic for some people, this condition is not degenerative or life-threatening. The level of intelligence is usually normal in patients with Tourette's, although possible learning disabilities. Severity tick at the beginning of life can not predict the severity of tick at a later date, and the prognosis is generally good, although there are no studies that reliably predict the outcome for a particular individual.

Disorders Tourette untreated is usually chronic and lifelong disease with exacerbations and relative recovery. Early symptoms can be reduced, remain, or rise, and old symptoms can be replaced with a new one. People who have this disorder and weighing can have serious emotional problems, including major depressive disorder. Some of this difficulty appears to be associated with Tourette's disorder, while others occur because of the social consequences, academic, and work hard, which is a sequela of this disorder is often the case.

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