Tourette Syndrome

There are two classifications of tics that accompany a Tourette syndrome diagnosis:

• Motor Tics: Movements of the body. Examples of motor tics include blinking, shrugging the shoulders or jerking an arm. Can be either simple or complex. Simple tics involve just a few parts of the body. Examples of simple tics include squinting the eyes or sniffing. Complex tics usually involve several different parts of the body and can have a pattern. An example of a complex tic is bobbing the head while jerking an arm, and then jumping up.
• Vocal Tics: Sounds that a person makes with his or her voice. Examples of vocal tics include humming, clearing the throat or yelling out a word or phrase.

Most cases of TS involve the interaction of multiple gene variations and environmental factors. Although the cause of TS is unknown, current research points to abnormalities in:

• Certain brain regions, including the basal ganglia, frontal lobes and cortex
• Circuits that connect these regions
• Neurotransmitters (dopamine, serotonin and norepinephrine) responsible for communication between nerve cells (neurons)

Changes (mutations) in one or more genes have been shown to be involved with TS. A small number of people with TS have mutations involving the SLITRK1 gene, which affects how neurons grow and connect with one another. Abnormalities in the NRXN1 and CNTN6 genes, which also regulate the normal formation of these nerve connections, also may play a role in TS. Scientists continue to look for other genes involved with TS. 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.

It is important to understand that genetic tendency may not necessarily result in TS; instead, it may express itself as a milder tic disorder or as obsessive-compulsive behaviors. It is also possible that children who inherit the gene abnormality will not develop any TS symptoms.

Genetic studies also suggest that some forms of attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (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.

Gender 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.

Genetic counseling of people with TS should include a full review of all potentially hereditary conditions in the family.

Genetic studies have indicated that TS is inherited as a dominant gene, with about a 50 percent chance of parents passing the gene on to their children. Boys with the gene(s) are three to four times more likely than girls to display symptoms of TS.

If you have TS, you may experience simple or complex motor tics. They may range from very mild to severe, although most cases are mild. Simple tics are sudden, brief, repetitive movements that involve a few muscle groups and are more common than complex tics.

Simple tics often precede complex tics. Simple motor tics include eye blinking and other eye movements, facial grimacing, shoulder shrugging, and head or shoulder jerking.

Simple vocal tics include repetitive throat clearing, sniffing, barking and grunting.

Complex tics are distinct, coordinated patterns of movement involving several muscle groups in different parts of the body.

Complex motor tics might include facial grimacing combined with a head twist and a shoulder shrug. Other complex motor tics may appear purposeful, including:

• Sniffing or touching an object
• Hopping
• Jumping
• Bending
• Twisting

Complex vocal tics may include:

• Repeating one’s own words or phrases
• Repeating others’ words or phrases (echolalia)
• Using vulgar, obscene or swear words (coprolalia)

Some of the most dramatic and disabling tics may include motor movements that result in self-harm such as punching yourself in the face or vocal tics such as echolalia or swearing. Some tics are preceded by an urge or sensation in the affected muscle group (premonitory urge). You may feel like you have to complete a tic in a certain way or a certain number of times to relieve the urge or decrease the sensations.

Tics may worsen with excitement or anxiety and get better during calm, focused activities. Certain physical experiences can trigger or worsen tics; for example, tight collars may trigger neck tics. Hearing another person sniff or clear the throat may trigger similar sounds. Tics do not go away during light sleep but are often significantly diminished; they go away completely in deep sleep.

Although the symptoms of TS are unwanted and unintentional (involuntary), some people can suppress or otherwise manage their tics to minimize their impact on functioning. However, people with TS often report a substantial buildup in tension when suppressing their tics to the point where they feel that the tic must be expressed (against their will). Tics in response to an environmental trigger can appear to be voluntary or purposeful but are not.

Many other individuals with TS may experience additional co-occurring neurobehavioral problems (how the brain affects emotion, behavior and learning) that often cause more impairment than the tics themselves. Although most people with TS experience a significant decline in motor and vocal tics in late adolescence and early adulthood, the associated neurobehavioral conditions may continue into adulthood.

The most common co-occurring conditions include:

• Attention-Deficit/Hyperactivity Disorder (ADHD): People with TS may have problems with concentration, hyperactivity and impulsivity.
• Obsessive-Compulsive Disorder or Behaviors (OCD/OCB): Unwanted thoughts, ideas or sensations (obsessions) may make someone with TS feel the need to perform behaviors repeatedly or in a certain way (compulsions). Repetitive behaviors can include handwashing, checking things and cleaning, and can significantly interfere with daily life.
• Anxiety: People with TS, along with others, may have a fear, uneasiness or apprehension about a situation or event that may have an uncertain ending.
• Learning Disabilities: Problems with reading, writing and arithmetic that are not related to intelligence are seen in some individuals with TS.
• Behavioral or Conduct Issues: Common issues include aggression, anger management problems and problems adjusting emotionally and socially.
• Problems Falling or Staying Asleep: Sleep disturbances may include difficulty falling and staying asleep and excessive daytime sleepiness.
• Social Skills Deficits and Social Functioning Difficulties: People may have trouble with social skills and with maintaining social relationships.
• Sensory Processing Issues: Some people with TS have difficulty organizing and responding to sensory information related to touch, taste, smells, sounds or movement.

To diagnose TS, a doctor will ask if you have any of the following symptoms:

• Presence of both motor and vocal tics that occur several times a day, every day or intermittently for at least one year
• Onset of tics before age 18
• Tics not caused by medications, other substances or medical conditions

Common tics are often diagnosed by a primary care provider, pediatrician or mental healthcare specialist. Atypical symptoms (different from classical symptoms) or atypical presentations (for example, symptoms that begin in adulthood) may require additional 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.

It may take some time to receive a formal diagnosis of TS. Families and physicians unfamiliar with the disorder might think mild and even moderate tic symptoms may be insignificant, a part of a developmental phase, or the result of another condition. For example, some parents may think that eye blinking is related to vision problems or that sniffing is related to seasonal allergies.

Currently, there is no cure for TS, but treatments are available to help manage some symptoms.

If tic symptoms are mild and do not cause impairment, treatment may not be needed. If symptoms interfere with daily functioning, there are effective medications and other treatments. Some medications may have or cause side effects and should be carefully managed by your physician or healthcare provider.

Medications:

• Medications that block dopamine (drugs that may be used to treat psychotic and non-psychotic disorders) are the most consistently useful medications to suppress tics (for example, haloperidol and pimozide).
• Alpha-adrenergic agonists such as clonidine and guanfacine are used primarily for hypertension (high blood pressure) but are also used to treat tics.
• Stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with TS without causing tics to become more severe. Some studies show the short-term use of these drugs can help children with TS who also have ADHD.
• Antidepressants—specifically, serotonin reuptake inhibitors (clomipramine, fluoxetine, fluvoxamine, paroxetine and sertraline)—can help some people control symptoms of depression, OCD and anxiety.

Unfortunately, there is no one medication that is helpful to all people with TS, nor does any medication completely eliminate symptoms.

Other therapies and treatments:

• Behavioral treatments such as awareness training and competing response training can be used to reduce tics. A recent National Institutes of Health–funded, multi-center randomized control trial called Cognitive Behavioral Intervention for Tics (CBIT) showed that training to move voluntarily in response to a premonitory urge can reduce tic symptoms. Other behavioral therapies, such as biofeedback or supportive therapy, have not been shown to reduce tic symptoms. However, supportive therapy can help a person with TS better cope with the disorder and deal with the secondary social and emotional problems that can occur.
• Psychotherapy can help individuals cope with the disorder and deal with accompanying problems or conditions, including ADHD, depression, anxiety and OCD.

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 have access to an educational setting that meets their individual needs. Students may require tutoring, smaller or special classes, private study areas, exams outside the regular classroom, other individual performance accommodations and, in some cases, special schools.