Gilles de la Tourette syndrome

Genes are the instructions that tell our bodies how to work. The SLITKR1 gene provides the instructions for a protein that helps the brain function properly. If the SLITKR1 gene is not working then the SLITRK1 protein is not made correctly. It is believed that this disruption leads to poor nerve cell development. As of June 2016 scientists are unsure how exactly this disruption in the SLITRK1 protein leads to Tourette syndrome. Based on our understanding of Tourette syndrome as of June 2016, genetic testing is not recommended. However, if you or a family member have Tourette syndrome and you would like to explore testing, contact a genetic counselor in your area.

Because our genetic information (DNA) plays a role in the chance to develop Tourette syndrome, relatives of those with Tourette syndrome are more likely to have the condition as well. Each individual’s risk will be different, but overall, first-degree relatives of someone with Tourette syndrome have around a 10-15% chance to have the syndrome as well. First-degree relatives are parents, brothers, sisters, and children. If you have a family member with Tourette syndrome and you would like to understand your risks better, you can meet with a genetic counselor in your area.

The Tourette Association of America provides a link to help patients with a doctor that specializes in Tourette syndrome at their website.

Tics are the main symptom of Tourette syndrome. Tics are uncontrollable twitches, movements or sounds. There are different types of tics. Simple tics can range from repetitive blinking to shrugging a shoulder to jerking an arm. Complex tics can involve multiple parts of the body at once. For example, someone that has blinking with arm jerking and head bobbing has a complex tic. The tics most often begin between 5 and 10 years of age. The type of tic and the frequency changes over time though. For some people, tics decrease entirely once they reach adulthood, but others will have them into adulthood.
People with Tourette syndrome are also more likely to have attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and sleep disturbance (problems with sleeping). If you have tics, talk to your doctor about an evaluation for Tourette syndrome and other disorders that may be associated with it.

There are multiple support groups and educational sites for Tourette syndrome. Sometimes people can ask a healthcare provider if they know of another patient with Tourette syndrome. These connections can sometimes help patients and families better understand what to expect and provide additional support.

If someone has Tourette syndrome, their doctor should be aware that treatments can alleviate the burden of tics for some patients. Also, not everyone needs treatment for tics. Available treatments include both medications and behavior therapies. Also, tics are the universal symptom of Tourette syndrome, but individuals are also more likely to have other mental or behavior problems as well. Attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) are common. Other health problems can include anxiety, depression, autism spectrum disorder, and learning difficulties. A psychiatrist can help person with some of these conditions. If you have Tourette syndrome, talk to your doctor about what treatment may be right for you.

Tourette syndrome "Plus" has a list of resources that is useful for educators as well as tic related awareness exercises for teachers. The Tourette Association of America and Tourettes Action also has a resources section for teachers.

Persistent vocal tic disorder and persistent motor tic disorder are similar to Tourette syndrome, but while individuals with TS have both vocal and motor tics, people with persistent (or chronic) tic disorders have only one or the other. People may also have provisional tic disorder if they have had tics for less than one year. There are also other conditions that also cause uncontrollable movements and sounds. Most often, healthcare providers are easily able to make sure someone does not have these other conditions. If a person has tics while sleeping, can briefly hold back a tic, feels a tic coming on, or can lessen tic severity when moving intentionally, they are more likely to have Tourette syndrome than another neurologic condition. If you have tics, talk to your doctor about an evaluation for Tourette syndrome and other disorders that may be associated with it.

Tourette syndrome is most commonly abbreviated as TS. If you are reading an article, make sure you are aware of the abbreviation that is being used to refer to Tourette syndrome

People with Tourette syndrome have a problem with their nervous system (brain and nerves). This can cause uncontrolled physical actions like jerky movements, repetitive twitches and or repeating sounds. These movements and sounds are called tics. Some people with Tourette syndrome have verbal tics. They are unable to stop themselves from making a sound or saying a word repeatedly. Others have motor tics where they are unable to control certain movements. We do not quite understand why some people experience these tics and others do not, but it seems that our genes play a role in our risk. There is no cure for Tourette syndrome, but treatment can help manage the tics for some patients. If you or someone you know has movements or sounds they cannot control talk to your doctor about the possibility of Tourette syndrome.

Tourette syndrome sometimes referred to as:

Some genetic changes are classified as “variants of uncertain significance”. This means that a genetic change was found that we do not fully understand. Scientist are not quite sure how or if it affects the body at this time. It may cause familial Tourette syndrome and it may not. We need more data to be sure. A genetic counselor or geneticist may be able to help explain what this result means for your particular situation. It is important to check every few years with your healthcare provider to learn if a variant of uncertain significance has been reclassified as disease causing or harmless.

If a child has been diagnosed with Tourette syndrome, there are other health problems that a doctor should look out for. Around 85% of children with Tourette syndrome also have another mental, behavioral, or developmental condition. These conditions can include attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and sleep disturbance (problems with sleeping). Individuals may also have learning difficulties, intellectual disability, or autism spectrum disorder. If your child has Tourette syndrome, talk to you doctor about when and how to evaluate for other disorders that may happen along with Tourette syndrome.

The genetics of Tourette syndrome (TS) are complicated. Genes are the instructions that tell our bodies how to work. Some people with TS have changes (mutations) in the SLITRK1 gene that causes it not to work properly. The SLITRK1 gene makes a protein that helps with brain function. If the SLITRK1 gene is not working properly and is unable to make the protein, this may lead to TS. Most people with TS do not have a genetic change in SLITRK1. For most people, TS is likely caused by a combination of multiple gene changes that we have not discovered as of June 2016 interacting with environmental factors. Based on our understanding of Tourette syndrome as of June 2016, genetic testing is not recommended. However, if you or a family member have Tourette syndrome and you would like to explore testing, contact a genetic counselor in your area.

As of June 2016, it is not clear exactly how Tourette syndrome runs through families. There is not generally a single genetic cause responsible for Tourette syndrome. Multiple genes interact together to lead to an increased chance to develop symptoms. Family members have similar genetic information. This increases the chance that two relatives could have a similar genetic material, and therefore, similarly increased chances to develop Tourette syndrome. Each person’s genetic makeup is still unique though so risks will vary from person to person. Also, different people will experience different environmental risk factors as well. If you have a family history of Tourette syndrome and you want to understand more about your risk to develop Tourette syndrome, contact a genetic counselor in your area.

There are some environmental factors that seem to increase the chance for someone to develop Tourette syndrome. Children whose mothers drank or smoked during pregnancy may be at greater risk. If there was a complication during birth or a baby has a low birth weight, that child may be more likely to be affected. In some cases, tics may develop after a strep infection, but this is still under investigation. When tics develop after a strep infection is is called Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal (PANDAS). More information about PANDAS can be found at [link url="www.pandasnetwork.org” target=”_blank”>PANDAS network. More research is needed to better understand the relationship between these environmental factors and Tourette syndrome. For a list of medical research being done on Tourette syndrome, contact the United States National Institutes of Health or search [link url="clinicaltrials.gov” target=”_blank”> clinicaltrials.gov.

Boys (males) are more likely to have Tourette syndrome. Some studies suggest that for every 1 girl who has Tourette syndrome, 4 boys will have it. If you or someone you know has movements or sounds they cannot control talk to your doctor about the possibility of Tourette syndrome.

There is research going on for Tourette syndrome. The Centers for Disease Control (CDC) is conducting research to better understand how many people have Tourette syndrome and what impact this condition has on patients and their families. Other groups are performing research to better understand the science behind Tourette syndrome, like looking at the differences between the brains of children with and without Tourette syndrome (Kennedy Krieger Institute and Johns Hopkins Hospital). Research is also being conducted on future treatments, like new medications and therapies. You can learn more about current research on Tourette syndrome through the Centers for Disease Control, United States National Institutes of Health and support groups like the Tourette Association.

As of April 2016, Tourette syndrome is not on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration, and states use this list to guide what conditions they screen for on newborn screening. The cause of Tourette syndrome is complex and usually onsets between 6-8 years of age, so we would not be able to accurately diagnose an infant through a blood test. You can check the Health Resources and Services Administration website to find current newborn screening panel recommendations.

If you search “Tourette syndrome” at www.clinicaltrials.gov you can learn about current research being conducted. This site also shows which studies are recruiting participants and shares some results. Tourette Association of American also provides information about current research projects being conducted at their website . Additionally, you can contact the Centers for Disease Control to learn about their research.

There are multiple support groups and educational sites for Tourette syndrome. Sometimes people can ask a healthcare provider if they know of another patient with Tourette syndrome. These connections can sometimes help patients and families better understand what to expect and provide additional support.

Habit reversal is a form of behavior therapy for Tourette syndrome. Habit reversal is made up of awareness training and competing response therapy. Awareness training requires a patient to recognize each of her/his tics out loud. Competing response therapy requires a patient to identify a behavior that disrupts their ability to do the tic. If a person’s tic is tapping their hand, they might try holding their hands closed together or crossing their arms. If you have Tourette syndrome, talk to your doctor about what treatment is recommended for you.

Comprehensive Behavioral Intervention for Tics (CBIT) is a behavioral therapy for Tourette syndrome. CBIT expands upon habit reversal therapy. (Habit reversal is made up of awareness training and competing response therapy.) CBIT looks at the big picture of an individual’s tics. By examining when and where the tics are the worst, a therapist can hopefully come up with new solutions on how to alleviate tic severity. Patients also learn relaxation techniques. The Tourette Association offers free training for healthcare providers on (CBIT). Talk to your doctor is you have Tourette syndrome and would like to try CBIT.

Around 1 per every 360 children aged 6 to 17 (or 0.27% children) have been diagnosed with Tourette syndrome. About twice that many, 1 in 162 (0.6%) of children may have TS, suggesting about half are undiagnosed. Boys are more likely to have Tourette syndrome than girls. If you or someone you know has movements or sounds they cannot control talk to your doctor about the possibility of Tourette syndrome.

There are treatment options for people with Tourette syndrome. If a person’s tics affect their daily activities or quality of life, treatment can help to lessen their severity. Certain medications can help ease the burden of the tics, but normally they do not stop tics from happening completely. Medications can include dopamine antagonists and alpha-2 adrenergic agonists. It can be a trial and error process to find the right medication for each patient. Different people will react differently to each medication. For some, possible side effects, like weight gain, muscle stiffness, fatigue, and social withdrawal, are more unpleasant than the tics they experience. Each patient is different though so it is important to work with a healthcare provider to learn what may be right for you. Behavioral therapy is another option for some patients. Habit reversal and Comprehensive Behavioral Intervention for Tics (CBIT) can help to ease tic burden as well. Talk to your doctor about the best treatment options for you.

An individual is diagnosed with Tourette syndrome if they meet certain criteria. No laboratory test is needed to confirm a diagnosis. The American Psychiatric Association created the criteria required for a diagnosis. A trained healthcare provider should be consulted to accurately diagnose an individual, but the criteria are listed below:

You can support Tourette syndrome research and education efforts through the following support groups:

The cause of Tourette syndrome is complex. It is most often caused by a combination of environmental factors and genes. Certain environmental factors seem to increase the chance that someone develops Tourette syndrome. Children whose mothers drank or smoked during pregnancy may be at greater risk. If there was a complication during birth or a baby has a low birth weight, that child may be more likely to be affected. In some cases, tics may develop after a strep infection, but this is still under investigation. When tics develop after a strep infection is is called Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal (PANDAS). More information about PANDAS can be found at [link url="www.pandasnetwork.org” target=”_blank”>PANDAS network. More research is needed to better understand the relationship between these environmental factors and Tourette syndrome. Your doctor may know of more recent studies that have helped scientists understand more about the genes or environmental factors that cause Tourette syndrome.