TOURETTES SYNDROME What Is Tourette Syndrome?

Anil Sharma LVN 3-22-10

Tourette syndrome is a condition that affects a person's central nervous system and causes tics. Tics are unwanted twitches, movements, or sounds that people make. To have Tourette syndrome, a person must have two tics that affect body movement and one that is a sound. All kids who have Tourette syndrome have tics, but a person can have tics without having Tourette syndrome. Some health conditions and medicines, for instance, can cause tics. And many children have tics that disappear on their own in a few months or a year. If you are having trouble imagining what tics are like, they're kind of like hiccups. You don't plan them and you don't want them. You can try tricks to make the hiccups stop, like drinking water upside down, but you can't just decide to stop hiccuping. Hiccups that last too long can even start to hurt and feel uncomfortable. Tics can be like that, too. Sometimes, tics can also be a little like "scratching an itch." You don't really want to scratch the itch, but you just can't help it. In these situations, a person has some control over the tic. The person feels an urge to make a movement or a sound before actually doing it. The person can even hold back the tic for a while. But eventually the person will have to let the tic out. Historical perspective In 1885, Gilles de la Tourette, the French neurologist and student of Charcot presented 9 children with childhood onset tics. These children also had associated coexisting behavior problems, as well as unusual vocalizations that we now recognize as phonic tics. Although Gilles de la Tourette correctly considered this a genetic disorder, the etiology was ascribed to psychogenic causes for nearly a century afterwards. In the 1960s, with the emergence of neuroleptic medications, the tics of TS would respond favorably to these new medications. The fundamental perception of TS changed from a psychiatric disorder to a primary neurologic disorder where there was believed to be focal dysfunction within the brain. Since that time, extensive research has been performed to understand the underlying neurobiology behind TS. What was once viewed as a rare psychiatric disorder, TS is now viewed as a relatively common and diverse childhood onset genetic condition. Who Gets Tourette Syndrome? Tourette syndrome is more common than doctors once thought: It affects at least 1 in 1,000 to 2,000 people and maybe more. It is believed that about 100,000 Americans have Tourette syndrome. Many more may have other tic disorders that are less severe. Tourette syndrome is more common in boys than in girls. It almost always starts before age 18 usually between ages 5 and 7. Even though kids with Tourette syndrome can get better as they get older, many will always have it. The good news is that it won't make them sick or shorten their lives.

Sometimes a person with Tourette syndrome might have other conditions, like attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or trouble learning. Why Do People Get Tourette Syndrome? Tourette syndrome is probably, in part, a genetic condition, which means that a person inherits it from his or her parents. Tourette syndrome is not contagious. You cannot catch it from someone who has it. Doctors and scientists don't know the exact cause, but some research points to a problem with how nerves communicate in the brain. Neurotransmitters chemicals in the brain that carry nerve signals from cell to cell may play a role. Tics People with Tourette syndrome have motor tics and vocal tics. Motor tics are movements of the muscles, like blinking, head shaking, jerking of the arms, and shrugging. When a person with Tourette syndrome suddenly begins shrugging, he or she may not be doing it on purpose. This may be a motor tic. Vocal tics are sounds that a person with Tourette syndrome might make with his or her voice. Throat clearing, grunting, and humming are all common vocal tics. A person with Tourette syndrome will sometimes have more than one type of tic happening at once. Tics can happen throughout the day, although they often occur less, or go away completely, when a person is concentrating (like working on a computer) or relaxing (like listening to music). The type of tic often changes over time. The frequency of the tic how often it happens usually also changes. Tics are usually worse when a person is under stress, like when he or she is studying for a big test. Tics are often also worse when a person is excited or very energized about something, like at a birthday party or a sports activity. Tics can even occur when a person first falls asleep but usually diminish dramatically and disappear completely during the deeper stages of sleep. Kids who have Tourette syndrome want to be treated like everybody else. They can do regular stuff, just like other kids. In fact, at least two kids with Tourette syndrome grew up to become sports stars. Soccer player Tim Howard is the starting goalkeeper for both Everton (in the English Premier League) and the United States national team. Pathophysiology The basic underlying neurobiological defect in TS is unknown. Most investigators concur that the disorder results from abnormalities within cortical-striatal-thalamo-cortical pathways. The precise localization, whether cortical or striatal, however, remains controversial. Tics are believed to result from dysfunction in cortical and subcortical regions, the thalamus, basal ganglia and frontal cortex.[31] Neuroanatomic models implicate failures in

circuits connecting the brain's cortex and subcortex and imaging techniques implicate the basal ganglia and frontal cortex.

Recent neuroimaging studies suggest small volumes in the caudate and possibly compensatory increases in prefrontal cortices, the later contributing to persistence of symptoms. Other studies have shown larger volumes of the hippocampus and amygdala, regions that send projections to the ventromedial striatum. Smaller area measurements of the midsaggital corpus callosum in TS have correlated with impaired forced-left ear attention performance. Abnormalities of neurotransmitters, which convey messages between brain neurons, are thought to have a prominent pathological role in TS. Abnormalities of dopamine markers in postmortem frontal lobe 25 and PET studies showing excessive neurotransmitter release support a role for dopamine. Other investigators, however, emphasize the importance of serotonin. Lower serum ferritin and iron levels in patients with TS, although within the normal range, have been proposed to have a possible role in the pathophysiology of this disorder.
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How is Tourette syndrome diagnosed?

Tourette syndrome is a diagnosis that doctors make after verifying that the patient has had both motor and vocal tics for at least 1 year. The existence of other neurological or psychiatric conditions [these include childhood-onset involuntary movement disorders such as dystonia, or psychiatric disorders characterized by repetitive behaviors/movements (for example, stereotypic behaviors in autism and compulsive behaviors in obsessive-compulsive disorder - OCD] can also help doctors arrive at a diagnosis. Common tics are not often misdiagnosed by knowledgeable clinicians. But atypical symptoms or atypical presentation (for example, onset of symptoms in adulthood) may require specific specialty expertise for diagnosis. There are no blood or laboratory tests needed for diagnosis, but neuroimaging studies, such as magnetic resonance imaging (MRI), computerized tomography (CT), and electroencephalogram

(EEG) scans, or certain blood tests may be used to rule out other conditions that might be confused with Tourette syndrome. It is not uncommon for patients to obtain a formal diagnosis of Tourette syndrome only after symptoms have been present for some time. The reasons for this are many. For families and physicians unfamiliar with Tourette syndrome, mild and even moderate tic symptoms may be considered inconsequential, part of a developmental phase, or the result of another condition. For example, parents may think that eye blinking is related to vision problems or that sniffing is related to seasonal allergies. Many patients are selfdiagnosed after they, their parents, other relatives, or friends read or hear about Tourette syndrome from others.

Diagnosis (in a nutshell)

Wide variation in symptoms among patients with tourette. Main criteria for diagnosis is to have both multiple motor and one or more vocal tics. The onset must have occurred before the age of 18y. The symptoms cannot be attributed to the direct effect of substance use or other medical condition. Therefore other medical conditions like Autism etc. must be ruled out to confirm diagnosis. Motor and vocal tics must be for at least 1 year. No specific medical or screening tests. No blood tests or laboratory tests needed. Diagnosis is made based on observation of the Pts symptoms and family history. No requirement that other comorbid conditions like ADHD or OCD be present. MRI, CT scans or EEG along with certain blood tests may be needed to rule out other conditions. TSH levels measured to rule out hypothyroidism. In teenagers showing sudden onset of symptoms, urine drug tests may be done to rule out cocaine and other stimulants. In case of family history of liver Disease serum copper and ceruloplasmin levels are measured to rule out Wilsons disease. Secondary causes of tics not related to inherited TS are commonly called tourettism. Other conditions that may manifest tics or TS like symptoms include: developmental disorders, autism, stereotypic movement disorders, genetic conditions like; Huntingtons disease, neuroacanthocytosis, Duchenne muscle dystrophy, Wilsons disease; chromosomal disorders like, Down syndrome, XYY syndrome and fragile X syndrome And some acquired causes like, drug-induced tics, head trauma, encephalitis, stroke, CO poisoning. Most of these symptoms are rarer than TS, therefore a thorough history and examination or even self diagnosis may be enough to rule out without medical or screening tests

How is Tourette syndrome treated?

The tics that come with Tourette syndrome may not necessarily need to be treated, because they are rarely dangerous or harmful. But if they are embarrassing, painful, or get in the way of school, medication can help. Tourette syndrome is not a psychological condition, it is a neurological one. However, psychological factors are very important in this condition. Psychological distress can make the tics worse, and kids with Tourette syndrome might feel very upset because of the tics and the problems that go with them. Counselors and Tourette syndrome organizations can help kids learn how to explain tics to others. Because tic symptoms do not often cause impairment, the majority of people with Tourette syndrome require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics are the most consistently useful medications for tic suppression; a number are available but some are more effective than others (for example, haloperidol and pimozide). Unfortunately, there is no one medication that is helpful to all people with Tourette syndrome, nor does any medication completely eliminate symptoms. In addition, all medications have side effects. Most neuroleptic side effects can be managed by initiating treatment slowly and reducing the dose when side effects occur. The most common side effects of neuroleptics include sedation, weight gain, and cognitive dulling. Neurological side effects such as tremor, dystonic reactions (twisting movements or postures), parkinsonian-like symptoms, and other dyskinetic (involuntary) movements are less common and are readily managed with dose reduction. Discontinuing neuroleptics after long-term use must be done slowly to avoid rebound increases in tics and withdrawal dyskinesias. One form of withdrawal dyskinesia called tardive dyskinesia is a movement disorder distinct from Tourette syndrome that may result from the chronic use of neuroleptics. The risk of this side effect can be reduced by using lower doses of neuroleptics for shorter periods of time. Other medications may also be useful for reducing tic severity, but most have not been as extensively studied or shown to be as consistently useful as neuroleptics. Additional medications with demonstrated efficacy include alpha-adrenergic agonists such as clonidine and guanfacine. These medications are used primarily for hypertension but are also used in the treatment of tics. The most common side effect from these medications that precludes their use is sedation. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with Tourette syndrome. Recent research shows that stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with Tourette syndrome without causing tics to become more severe. However, the product labeling for stimulants currently contraindicates the use of

these drugs in children with tics/Tourette syndrome and those with a family history of tics. Scientists hope that future studies will include a thorough discussion of the risks and benefits of stimulants in those with Tourette syndrome or a family history of Tourette syndrome and will clarify this issue. For obsessive-compulsive symptoms that significantly disrupt daily functioning, the serotonin reuptake inhibitors (clomipramine, fluoxetine, fluvoxamine, paroxetine, and sertraline) have been proven effective in some patients. Psychotherapy may also be helpful. Although psychological problems do not cause Tourette syndrome, such problems may result from Tourette syndrome. Psychotherapy can help the person with Tourette syndrome better cope with the disorder and deal with the secondary social and emotional problems that sometimes occur. More recently, specific behavioral treatments that include awareness training and competing response training, such as voluntarily moving in response to a premonitory urge, have shown effectiveness in small controlled trials. Larger and more definitive NIH-funded studies are underway.

Treatment (gist)
If the tics are embarrassing, painful, or get in way of school, medication may help. TS is a neurological problem but psychotherapy helps. For those where TS/Tics cause impairment, or interfere in functioning; Neuroleptics are most consistently useful. Commonly used ones are haloperidol (Haldol), and pimozide (Orap), risperidone( Risperdal). Medications only subside the symptoms but do not cure the cause and have lot of SE. Most common side effects from neuroleptics are sedation, wt. gain, cognitive dulling. Other medications with demonstrated efficacy include alpha-adrenergic agonists such as clonidine( catapres) and guanfacine (Tenex). Main use of these is for hypertension besides Tics. There is no cure for TS and no medication works universally for all Pts. TS may not necessarily need to be treated. Tics are rarely dangerous or harmful. Most cases of TS are mild so psycho behavioral therapy, education, and reassurance of Pt, family and surrounding community like friends, schools, churches is a key treatment strategy. Psychotherapy treatments like awareness training, competing response training have shown some improvements in kids. Cognitive behavioral therapy (CBT) is useful when OCD is present. Habit reversal treatment is very helpful in some kid trials. Relaxation techniques such as exercise, yoga, meditation may be useful in treating stress.

Regardless of symptoms severity, TS Pts have a normal life span, although symptoms in some may be lifelong, but condition is not degenerative or life threatening, so prognosis is positive except for some with very severe cases that persist through adulthood.