What Is Tourette Syndrome?
Tourette syndrome is a neurological disorder manifested by motor and vocal (phonic) tics usually starting during childhood and often accompanied by obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), poor impulse control, and other co-morbid behavioral problems. Once considered a rare psychiatric curiosity, TS is now recognized as a relatively common and complex neurobehavioral disorder. Many notable historical figures including Dr. Samuel Johnson and possibly Wolfgang Amadeus Mozart, and some of today's most accomplished individuals have been thought to be afflicted with TS.
The disorder was first described in 1885 by the French neurologist George Gilles de la Tourette in nine patients who shared one feature - they all exhibited brief involuntary movements called tics; additionally six made noises, five shouted obscenities (coprolalia), five repeated the words of others (echolalia), and two mimicked others' gestures (echopraxia). Although Tourette considered the disorder he described to be hereditary, the etiology was ascribed to psychogenic causes for nearly a century following the original report. The perception of TS began to change in the 1960s when the beneficial effects of drugs that block dopamine receptors in the brain on the symptoms of TS began to be recognized. This observation helped to refocus attention from psychogenic to central nervous system (CNS) etiology.
The occurrence of TS in childhood has been estimated at 0.5-1 percent, although this proportion differs between scientific studies. It is a well-known fact that males are more commonly affected than females (3-4:1). Tics typically start around the age of 4-6 years and reach their peak severity age 10-12 years. Usually, tic severity then decreases as the patient grows older, however some patients will continue to suffer from tics into adulthood.
The diagnosis depends on a careful evaluation of the patient's symptoms and signs by an experienced clinician. Educational efforts by the Tourette Syndrome Association (see appendix at the bottom of this page) and scientific programs directed to physicians, educators and the general public have increased awareness about TS. In addition, a growing public attention has been drawn to this condition by the media. As a result of this improved awareness, self-referral rate of patients has increased and the correct diagnosis is made earlier than in the past. Many patients, however, still remain undiagnosed or their symptoms are wrongly attributed to "habits," "allergies," "asthma," "dermatitis," "hyperactivity," "nervousness" and many other conditions.
Motor tics are abrupt, brief, rapid, repetitive, often transiently suppressible, movements that may fluctuate in distribution and severity. Tics are often exacerbated by stress and by suggestion. Common motor tics include eye blinking, eye deviation, facial grimacing, neck popping and/or stretching, and shoulder shrugging. Tics may also cause noise or sound by moving air through nasal and oropharyngeal passages (vocal or phonic tics). Sniffing, coughing, grunting, guttural maneuvers, inhaling, screaming, sniffing and squealing are among the most common phonic tics. Simple tics involve repetitive movement of one muscle group such as shoulder shrugging, eye blinking, or neck popping. Complex motor tics include coordinated motor behaviors such as touching, tapping, jumping, skipping when walking, or socially inappropriate gestures (copropraxia). Coprolalia, manifested by shouting of obscenities or profanities, is probably the most over-emphasized symptom of TS, and is actually present in only about one-third of all patients. Other complex phonic tics include palilalia (repetition of the last syllable, word or phrase in a sentence), or echolalia (repetition of someone else's words or phrases). In contrast to a popular belief, motor and phonic tics may persist during all stages of sleep.
Tics are frequently preceded by premonitory sensations described by patients as a need to stretch the muscle, increased tension or discomfort, or an urge to have to tic until it "feels just right." The latter premonitory sensation is particularly interesting in that the "just right" phenomenology may be integrated into compulsive behaviors such as constant rearranging, piling and lining up in a symmetrical pattern, excessive checking, washing or ritualistic house cleaning. Frequently TS patients engage in activities until it looks "just right" or tic until it feels "just right." The clinician must consider which component of TS to medicate; the obsession that triggers the tic, the tic itself, or both. TS children volitionally exert their energy to suppress their tics in order to avoid embarrassment or social ridicule. These children may have more tics when they return home from school and are relaxed.
In addition to tics, TS is commonly associated with ADHD and OCD (60-90 percent and 40-60 percent of TS patients, respectively), as well as other behavioral problems such as poor impulse control, anxiety, mood and conduct disorders, and self-injurious behavior. These behavioral symptoms may contribute to poor academic, social and work adjustment and productivity and for many patients they are more concerning and debilitating than the motor tics.
ADHD. Attention deficit hyperactivity disorder (ADHD) is characterized by the three primary symptoms of hyperactivity, impulsivity and inattention, often resulting in poor academic performance and impaired social functioning. An estimated three to six percent of school-aged children suffer from ADHD, which is more prevalent in boys. About half of all TS patients have symptoms of ADHD sometime during the course of the disease. Although attention deficit is certainly one of the most common and disabling symptoms of TS, in many patients the inability to pay attention is due not only to a co-existent ADHD, but also because of poor motivation, unwanted intrusions of thoughts, mental concentration exerted in an effort to suppress tics, sedation from anti-TS medications, and associated migraine headaches. Some patients are unable to pay attention because of a compulsive fixation of gaze. For example, while sitting in a classroom or a theater or during a conversation their gaze becomes fixated on a particular object and despite concentrated effort, they are unable to break the fixation. As a result, they miss the teacher's lesson or a particular action in a play. It is, therefore, important to determine which mechanism or mechanisms are most likely responsible for the patients' attention deficit. This is particularly important when selecting the best therapeutic approach.
OCD. That OCD is a part of the spectrum of neurobehavioral manifestations in TS is now well accepted. Obsessions are characterized by intense, intrusive thoughts, such as concerns about bodily wastes and secretions, unfounded fears, checking behavior, need for exactness, symmetry, evenness and neatness, excessive religious concerns, perverse sexual thoughts, and intrusions of words, phrases or music. Compulsions consist of subjective urge to perform meaningless and irrational rituals, such as checking, counting, cleaning, washing, touching, smelling, hoarding and rearranging. A pathogenic link between TS and OCD is also suggested by the finding that the majority of patients with OCD had a lifetime history of tics. Repetitive thoughts, comments or songs may occupy the child's thought processes while ritualistic behaviors such as persistent tapping on the table, erasing the blackboard or perfecting handwriting compete for the child's focus, concentration and efficiency.
The cause of TS is yet unknown, but the disorder appears to be inherited in the majority of patients. Studies have found that the genetic susceptibility is inherited in many patients from both parents - so called bilineal transmission. Typically, the mother manifests features of OCD, the father may have a history of childhood tics and/or ADHD and the child has a more complete syndrome manifested by a combination of tics, OCD, ADHD, poor impulse control and other behavioral co-morbidities. The clinical expression of the genetic defect varies from one individual to another, fluctuations in symptoms are seen within the same individual, and different manifestations occur in various family members.
Treatment for Tics
The goal of treatment should not be to completely eliminate all the tics, but to achieve a tolerable suppression. Although a variety of behavioral and alternative therapies have been tried, most clinicians believe that the treatment of choice for reducing the frequency and severity of tics involves the use of medications that act by blocking dopamine receptors or deplete dopamine. Although these neuroleptic (dopamine receptor blocking) drugs, such as haloperidol (Haldol), risperidone (Risperdal), pimozide (Orap) and fluphenazine (Prolixin) have proven efficacy in reducing tics, they may be associated with a variety of side effects. These include gastrointestinal upset, sedation, restlessness and weight gain. Periodically monitoring the ECG is recommended in patients taking pimozide. Acute dystonic reaction such as face and neck spasms, lock jaw or involuntary eye deviation may occur with all these drugs, but this side effect can be effectively reversed with anticholinergic medications such as benztropine (Cogentin) or diphenhydramine (Benadryl). Rarely, dopamine blocking agents may cause involuntary, repetitive movements typically involving the lower face and mouth, called tardive dyskinesia. Other antidopaminergic drugs such as tetrabenazine (Xenazine) and the newer drugs deutetrabenazine (Austedo) and valbenazine (Ingrezza) may be effective in treating tics without the risk of tardive dyskinesia. Other drugs occasionally found useful in the treatment of tics include clonidine (Catapres), guanfacine (Tenex) and clonazepam (Klonopin). The class of drugs known as atypical neuroleptics, such as clozapine (Clozaril), olanzapine (Zyprexa), quetiapine (Seroquel), ziprasidone (Geodon) and aripiprazole (Abilify) may also be useful in treating tics and some associated behavioral problems. Another approach to the treatment of tics is the use of botulinum toxin (Botox) injections in the area of the most problematic tic. Botulinum toxin injections are safe and effective in reducing the severity and frequency of tics without the side effects of systemic medications. Depending on the site of injection, the most common side effects include transient ptosis (drooping of the eye), neck weakness, and hypophonia. Finally, there has been a growing public interest in cannabinoids for the treatment of TS (and other medical disorders), although the evidence is still lacking.
Treatment of ADHD
Behavioral modification, school and classroom adjustments, and stress management may be useful in some selected patients, but in our experience these approaches are rarely fully effective. Such behavioral strategies, however, may provide important emotional support for the patient and the family members and may be helpful in raising self-esteem and improve motivation. Pharmacologic therapy is usually required when behavioral measures do not allow for a satisfactory adaptation and the symptoms of ADHD impair interpersonal relationships and interfere with academic or occupational performance.
Central nervous system (CNS) stimulants, such as methylphenidate (Ritalin or Ritalin-SR), controlled-release methylphenidate (Concerta), dextroamphetamine (Dexedrine), mixture of amphetamine salts (Adderall or Adderall XR), controlled-delivery methylphenidate (Metadate CD) and dexmethylphenidate (Focalin) are among the most effective agents in the treatment of ADHD and associated conduct disorders. Although these CNS stimulants may precipitate or exacerbate tics in some patients, with continued use or adjustment of dosage, most TS patient can tolerate these drugs without any serious complications.
There are many other drugs used in the treatment of TS and co-morbid behavioral disorders. Clonidine (Catapres) may improve symptoms of ADHD, but is particularly useful in patients who have trouble controlling their impulses. The drug is also available as a transdermal patch (Catapres TTS-1, TTS-2, TTS-3) that should be changed once a week, using a different skin location. Although the patch can cause local irritation it seems to cause fewer side effects than oral clonidine. Side effects include sedation, lightheadedness, headache, dry mouth, and insomnia. Another drug frequently used in the treatment of impulse control problems is guanfacine (Tenex). Guanfacine appears to have some advantages over clonidine in that it has a longer half-life, is less sedating, and is less likely to produce hypotension. Both clonidine and guanfacine appear to be particularly useful in the management of oppositional, argumentative, impulsive and aggressive behavior. Other drugs used in mild cases of ADHD include deprenyl (selegiline), imipramine (Tofranil) and nortriptyline (Pamelor). Atomoxetine (Strattera), a selective norepinephrine reuptake inhibitor, is another non-stimulant medication that was shown to be effective for ADHD and well tolerated by children with tics.
Treatment of OCD
The most effective drugs are the selective serotonin uptake inhibitors (SSRIs). These include fluoxetine (Prozac), fluvoxamine (Luvox), clomipramine (Anafranil), paroxetine (Paxil), sertraline (Zoloft), venlafaxine (Effexor), citalopram (Celexa) and escitalopram (Lexapro). The most common side effects of SSRIs are nausea, vomiting, diarrhea, headache, anxiety and restlessness. Cognitive behavioral therapy (a form of psychotherapy) can be used in addition to the medications.
Educating parents, teachers and school administrators as well as healthcare professionals is crucial in early recognition of symptoms, confirming a diagnosis, and initiating appropriate treatment. Because of the broad range of neurological and behavioral manifestation and varying severity, therapy of TS must be individualized and tailored specifically to the needs of the patient. The most troublesome symptoms, such as tics, OCD, ADHD and impulse control problems, should be targeted first, but many patients may require more than one medication, depending on the complexity and severity of the symptoms. Medications should be instituted at low doses and titrated gradually to the lowest, but effective, dosage and tapered during nonstressful periods (e.g. summer vacations). Another important principle of therapy in TS is to give each medication and dosage regimen an adequate trial. This approach will avoid needless changes made in response to variations in symptoms during the natural course of the disease. Optimal management of TS requires the integrated experience of various disciplines of educators, physicians, allied healthcare professionals, psychologists and social workers. When all medical therapies fail and the patients continue to be disabled by severe, self-injurious tics or OCD, surgical therapy using deep brain stimulation (DBS) may be considered as a final option.
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