WHAT IS TOURETTE SYNDROME?

Tourette Syndrome (TS) is an inherited, neurological disorder characterized by repeated involuntary movements and uncontrollable vocal (phonic) sounds called tics. In a few cases, such tics can include inappropriate words and phrases. (Check out our FAQs)

History

The disorder is named for Dr. Georges Gilles de la Tourette, the pioneering French neurologist who first described an 86-year-old French noblewoman with the condition in 1885. He noticed that the Marquise and patients like her had symptoms that persisted over time, and the vocalizations were in contrast to the person’s nature and upbringing. His theory was that the symptoms must be a hereditary condition. He wrote an article on the subject called “Maladie des Tics.”, which started a debate about the cause of the disorder that we now know as Tourette Syndrome.

Amazingly, this debate continued until the early 1970’s when Arthur Shapiro, he has been described as “the father of modern tic disorder research”[ and his wife, Elaine, a PhD finally, succeeded in persuading the media and the medical community that TS was neurological rather than psychological. To read more about Gilles de la Tourette, see https://tourette.ca/the-man-behind-the-name-gilles-de-la-tourettes-story/

How widespread is Tourette Syndrome?

It is estimated that more than 200,000 Americans have full-blown TS, and that as many as 1 in 100 school-aged children show a partial expression of the disorder—such as chronic multiple tics or transient childhood tics. Studies suggest that one half of the children with TS are undiagnosed.

Who does TS affect?

TS can affect people of all ethnic groups; males are affected 3 to 4 times more often than females. TS symptoms generally appear before the individual is 18 years old and may often be accompanied by other disorders such as:

  • ADD/ADHD
  • OCD
  • School Phobias
  • Depression
  • Anxiety
  • Sleep & Mood Disorders

In fact, among children diagnosed with the disorder, 86% also have been diagnosed with at least one additional mental, behavioral, or developmental disorder. In addition, studies indicate that over 42% of children diagnosed have at least one chronic health problem.

How is Tourette Syndrome diagnosed?

There is no specific test for Tourette Syndrome. The American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) provides guidelines so that health providers can best determine a diagnosis. 

TS symptoms that lead to a diagnosis include, but are not limited to:

  • Both multiple motor and one or more vocal tics are present at some time during the illness, although not necessarily at the same time.
  • The occurrence of tics many times a day (usually in concentrated bouts) nearly every day over the span of more than one year.

Tics can be simple or complex, and are generally grouped into categories:

  • Simple motor tics: Eye blinking, body jerking, facial grimacing, head jerking, shoulder shrugging
  • Simple vocal tics: Sniffing, throat clearing, humming, tongue clicking, whistling, yelping
  • Complex motor tics: Jumping, smelling, touching other people or things, twirling and rarely, coporopraxia (demonstrating socially inappropriate gestures)
  • Complex vocal tics: Saying words or phrases out of context (oh boy!), stuttering and rarely, coprolalia (vocalizing socially unacceptable words)

The presence of co-occurring disorders can complicate both diagnosis and treatment of Tourette Syndrome.

How does Tourette Syndrome progress?

The natural course of TS varies from patient to patient. Although TS symptoms range from very mild to quite severe, the majority of cases fall in the mild category. However, TS is not degenerative. Intelligence levels and life span are no different than that of everyone else.

What causes Tourette Syndrome?

Genetic studies indicate that TS is inherited as a dominant gene and that a person with TS has about a 50 percent chance of passing the gene to one or more of his/her children. This genetic predisposition may express itself as TS, as a milder tic disorder or as obsessive compulsive symptoms with no tics at all.

NJCTS is fully committed to learning more about the causes of TS, particularly identifying genetic factors that play a role in causing TS and associated disorders. In 2007, NJCTS partnered with Rutgers University to further research on TS genetics. Read more about the Tourette research.

What treatments are available?

There is no known cure for TS, but a lot of progress has been made in understanding the best treatments for reducing the severity and impact of TS and its related symptoms. Many people experience marked improvement in their late teens or early 20s. Most people with TS get better as they mature and those diagnosed with TS can anticipate a normal life span.

The majority of people with TS are not significantly disabled by their tics or behavioral symptoms, and therefore do not require medication.

If symptoms affect a person’s daily life, the newest guideline from the  American Academy of Neurology (AAN) recommends that doctors first consider prescribing a treatment called Comprehensive Behavioral Intervention for Tics. CBIT combines relaxation training, habit-reversal training, and behavioral therapy to help reduce tic symptoms. The guideline states that CBIT is effective in both children and adults and has no major side effects.

In instances where symptoms of TS or symptoms of related disorders are not improved with CBIT, medications may be prescribed. There is no one specific drug for the treatment of Tourette Syndrome, and each individual responds differently to drug therapies; but a number of medications have shown positive results in controlling symptoms of TS and its associated conditions.

Tourette Syndrome is a complex disorder that is still not completely understood.

My child has been diagnosed, what’s next?

NJCTS is here for you

FAQ’s About Tourette Syndrome

Below are some frequently asked questions about Tourette Syndrome. The answered have been provided with help from the National Institutes of Health. If you have unanswered questions, please call us at 908.575.7350.

Tics come and go over time, varying in type, frequency, location, and severity. The first symptoms usually occur in the head and neck area and may progress to include muscles of the trunk and extremities. Motor tics generally precede the development of vocal tics and simple tics often precede complex tics. Most patients experience peak tic severity before the mid-teen years with improvement for the majority of patients in the late teen years and early adulthood. Approximately 10-15 percent of those affected have a progressive or disabling course that lasts into adulthood.
While tics may sometimes seem purposeful or voluntary, they are not. At times some people may be able to suppress their tics, however, the tics are not voluntary. Many, although not all, tics are preceded by an anticipatory sensation, letting the person know that they need to tic. In an effort not to be disruptive or to avoid embarrassment, people may attempt to hold back their tics. However, after suppressing them for a period of time, they often feel a buildup of tension and the need to let the tic out. Tic suppression takes effort and concentration and therefore may reduce a person’s ability to pay attention to other things.
Tics usually begin when a child is between 5-10 years old. Tics often start in the head or neck area and motor tics are usually present before vocal tics. Diagnosis is made after an individual has exhibited at least two motor and one vocal tic for a period of at least one year. Children are sometimes misdiagnosed, in part because depending on the type of tic, it may be seen as part of another condition such as allergies or vision problems. Tics also may not be seen as a problem unless they become more severe and impairing.
Although the cause of TS is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. Given the often complex presentation of TS, the cause of the disorder is likely to be equally complex. NJCTS is fully committed to learning more about the causes of TS, particularly identifying genetic factors that play a role in causing TS and associated disorders. In 2007, NJCTS partnered with Rutgers University to further research on TS genetics. Read more about the Tourette research: https://njcts.org/research/ticgenetics/.
Many individuals with TS experience additional neurobehavioral problems that often cause more impairment than the tics themselves. These include inattention, hyperactivity and impulsivity (attention deficit hyperactivity disorder—ADHD); problems with reading, writing, and arithmetic; and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviors. For example, worries about dirt and germs may be associated with repetitive hand-washing, and concerns about bad things happening may be associated with ritualistic behaviors such as counting, repeating, or ordering and arranging. People with TS have also reported problems with depression or anxiety disorders, as well as other difficulties with living, that may or may not be directly related to TS. In addition, although most individuals with TS experience a significant decline in motor and vocal tics in late adolescence and early adulthood, the associated neurobehavioral conditions may persist. Given the range of potential complications, people with TS are best served by receiving medical care that provides a comprehensive treatment plan.
TS 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 can also help doctors arrive at a diagnosis. Common tics are not often misdiagnosed by knowledgeable clinicians. However, atypical symptoms or atypical presentations (for example, onset of symptoms in adulthood) may require specific specialty expertise for diagnosis. There are no blood, laboratory, or imaging tests needed for diagnosis. In rare cases, neuroimaging studies, such as magnetic resonance imaging (MRI) or computerized tomography (CT), electroencephalogram (EEG) studies, or certain blood tests may be used to rule out other conditions that might be confused with TS when the history or clinical examination is atypical. It is not uncommon for patients to obtain a formal diagnosis of TS only after symptoms have been present for some time. The reasons for this are many. For families and physicians unfamiliar with TS, 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 self-diagnosed after they, their parents, other relatives, or friends read or hear about TS from others.
There are both behavioral and pharmacological treatments to aid in the management of tics. The American Academy of Neurology (AAN) has recommended Comprehensive Behavioral Intervention for Tics (CBIT), a behavior therapy provided by trained practitioners, as the first line treatment for tic management. There are also medications that can help reduce the intensity and frequency of tics. Because tic symptoms often do not cause impairment, the majority of people with TS require no medication for tic suppression. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics (drugs that may be used to treat psychotic and non-psychotic disorders) 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 TS, nor does any medication completely eliminate symptoms. In addition, all medications have side effects. Many 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. 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. However, given the lower side effect risk associated with these medications, they are often used as first-line agents before proceeding to treatment with neuroleptics. There is no cure for TS.
While tics may sometimes seem purposeful or voluntary, they are not. At times some people may be able to suppress their tics, however, the tics are not voluntary. Many, although not all, tics are preceded by an anticipatory sensation, letting the person know that they need to tic. In an effort not to be disruptive or to avoid embarrassment, people may attempt to hold back their tics. However, after suppressing them for a period of time, they often feel a buildup of tension and the need to let the tic out. Tic suppression takes effort and concentration and therefore may reduce a person’s ability to pay attention to other things.
Evidence from twin and family studies suggests that TS is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. Although there may be a few genes with substantial effects, it is also possible that many genes with smaller effects and environmental factors may play a role in the development of TS. Genetic studies also suggest that some forms of ADHD and OCD are genetically related to TS, but there is less evidence for a genetic relationship between TS and other neurobehavioral problems that commonly co-occur with TS. It is important for families to understand that genetic predisposition may not necessarily result in full-blown TS; instead, it may express itself as a milder tic disorder or as obsessive-compulsive behaviors. It is also possible that the gene-carrying offspring will not develop any TS symptoms. The gender of the person also plays an important role in TS gene expression. At-risk males are more likely to have tics and at-risk females are more likely to have obsessive-compulsive symptoms. Learn more about the research being supported by NJCTS
Although there is no cure for TS, the condition in many individuals improves in the late teens and early 20s. As a result, some may actually become symptom-free or no longer need medication for tic suppression. Although the disorder is generally lifelong and chronic, it is not a degenerative condition. Individuals with TS have a normal life expectancy. TS does not impair intelligence. Although tic symptoms tend to decrease with age, it is possible that neurobehavioral disorders such as ADHD, OCD, depression, generalized anxiety, panic attacks, and mood swings can persist and cause impairment in adult life.
Although students with TS often function well in the regular classroom, ADHD, learning disabilities, obsessive-compulsive symptoms, and frequent tics can greatly interfere with academic performance or social adjustment. After a comprehensive assessment, students should be placed in an educational setting that meets their individual needs. Students may require tutoring, smaller or special classes, and in some cases special schools. All students with TS need a tolerant and compassionate setting that both encourages them to work to their full potential and is flexible enough to accommodate their special needs. This setting may include a private study area, exams outside the regular classroom, or even oral exams when the child’s symptoms interfere with his or her ability to write. Untimed testing reduces stress for students with TS. Creating a Supportive Learning Environment for Students with Tourette Syndrome and Related Disorders
Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), is responsible for supporting and conducting research on the brain and nervous system. The NINDS and other NIH components, such as the National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute on Drug Abuse, and the National Institute on Deafness and Other Communication Disorders, support research of relevance to TS, either at NIH laboratories or through grants to major research institutions across the country. Another component of the Department of Health and Human Services, the Centers for Disease Control and Prevention, funds professional education programs as well as TS research. Knowledge about TS comes from studies across a number of medical and scientific disciplines, including genetics, neuroimaging, neuropathology, clinical trials (medication and non-medication), epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Genetic studies. Currently, NIH-funded investigators are conducting a variety of large-scale genetic studies. Rapid advances in the technology of gene discovery will allow for genome-wide screening approaches in TS, and finding a gene or genes for TS would be a major step toward understanding genetic risk factors. In addition, understanding the genetics of TS genes may strengthen clinical diagnosis, improve genetic counseling, lead to the clarification of pathophysiology, and provide clues for more effective therapies. Neuroimaging studies. Advances in imaging technology and an increase in trained investigators have led to an increasing use of novel and powerful techniques to identify brain regions, circuitry, and neurochemical factors important in TS and related conditions. Clinical trials. A number of clinical trials in TS have recently been completed or are currently underway. These include studies of stimulant treatment of ADHD in TS and behavioral treatments for reducing tic severity in children and adults. Smaller trials of novel approaches to treatment such as dopamine agonists and glutamatergic medications also show promise. Epidemiology and clinical science. Careful epidemiological studies now estimate the prevalence of TS to be substantially higher than previously thought with a wider range of clinical severity. Furthermore, clinical studies are providing new findings regarding TS and co-existing conditions. These include subtyping studies of TS and OCD, an examination of the link between ADHD and learning problems in children with TS, a new appreciation of sensory tics, and the role of co-existing disorders in rage attacks. One of the most important and controversial areas of TS science involves the relationship between TS and autoimmune brain injury associated with group A beta-hemolytic streptococcal infections or other infectious processes. There are a number of epidemiological and clinical investigations currently underway in this intriguing area. Learn more about the research being supported by NJCTS
Tourette Syndrome is a neurological disorder, not a mental illness. Often, those diagnosed with Tourette Syndrome have co-occurring disorders that may be classified as mental illnesses.

 

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