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As hard as it is to hear that your child has Tourette syndrome, you may also feel a sense of relief to finally know what it is. Many times, prior to diagnosis, parents become very frustrated trying to cope with the behavior, not realizing your child simply can't help it. With the care and treatment from the specialty team at the Jane and John Justin Neurosciences Center at Cook Children's, you and your child will soon be on your way to better days.
Tourette syndrome is a neurological disorder that causes tics – sudden, repetitive movements or sounds that some people make, seemingly without being aware of it. Tics are far more common than you might realize. Indeed, many people have tics that go away in less than a year or mild tics that don't interfere with their lives.
But in some kids, tics are more severe or long lasting. If a child has tics for more than a year, it is called a chronic tic disorder. In some cases, these tics can be part of a condition called Tourette syndrome. The tics associated with Tourette syndrome typically get milder or even go away entirely as your child grows into adulthood. Until that happens, though, you and your Cook Children's neurospecialty team can help your child cope with the condition.
Tourette syndrome (TS) is named for French doctor Georges Gilles de la Tourette, who first described the condition in 1885. It's thought to be a genetic condition that's inherited in most cases. Experts don't know the exact cause of TS, but some research points to changes in the brain and problems with how nerve cells communicate. A disturbance in the balance of neurotransmitters – chemicals in the brain that carry nerve signals from cell to cell – might play a role.
To be diagnosed with Tourette syndrome, a person must have several different types of tics – specifically, multiple motor tics and at least one vocal tic.
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.
Symptoms of Tourette syndrome, which is not contagious, usually emerge in childhood or the teen years. TS isn't common – worldwide, only about 3 in every 1,000 people have it, and boys are more likely to be affected.
The early symptoms of TS are typically noticed first in childhood, with the average onset between the ages of 3 and 9 years. TS occurs in people from all ethnic groups; males are affected about three to four times more often than females. It is estimated that 200,000 Americans have the most severe form of TS, and as many as one in 100 exhibit milder and less complex symptoms such as chronic motor or vocal tics. Although TS can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst tic symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.
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.
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.
The main symptoms of TS are motor tics (sudden, apparently uncontrollable movements like exaggerated blinking of the eyes) or vocal tics (such as repeated throat clearing).
At certain times, like when someone is under stress, the tics can become more severe, more frequent, or longer, or the type of tic may change altogether. (This is also true of people who have tics that are not part of Tourette syndrome.)
Some kids can suppress their tics for a short time. But tension builds, and it eventually has to be released as a tic. And if a person is concentrating on controlling the tic, it may be hard to focus on anything else. This can make it hard for kids with TS to have a conversation or pay attention in class.
Tics are classified as either simple or complex. Simple motor tics, for example, happen suddenly and separately from other tics and involve just a few muscles. Some examples are eye blinking and grimacing. In contrast, complex motor tics usually involve more muscle groups. For example, someone might touch a body part or another person repeatedly. In rare cases, people with TS might have a tic that makes them harm themselves, such as head banging.
Simple vocal tics can be throat clearing, sniffing, grunting, or humming. . Complex tics are distinct, coordinated patterns of movements involving several muscle groups. Complex motor tics might include facial grimacing combined with a head twist and a shoulder shrug. Other complex motor tics may actually appear purposeful, including sniffing or touching objects, hopping, jumping, bending, or twisting. Simple vocal tics may include throat-clearing, sniffing/snorting, grunting, or barking. More complex vocal tics include words or phrases. Perhaps the most dramatic and disabling tics include motor movements that result in self-harm such as punching oneself in the face or vocal tics including coprolalia (uttering socially inappropriate words such as swearing) or echolalia (repeating the words or phrases of others). However, coprolalia is only present in a small number (10 to 15 percent) of individuals with TS. Some tics are preceded by an urge or sensation in the affected muscle group, commonly called a premonitory urge. Some with TS will describe a need to complete a tic in a certain way or a certain number of times in order to relieve the urge or decrease the sensation.
Tics are classified as either simple or complex. Simple motor tics are sudden, brief, repetitive movements that involve a limited number of muscle groups. Some of the more common simple tics include eye blinking and other eye movements, facial grimacing, shoulder shrugging, and head or shoulder jerking. Simple vocalizations might include repetitive throat-clearing, sniffing, or grunting sounds. Tics are often worse with excitement or anxiety and better during calm, focused activities. Certain physical experiences can trigger or worsen tics, for example tight collars may trigger neck tics, or hearing another person sniff or throat-clear may trigger similar sounds. Tics do not go away during sleep but are often significantly diminished.
In addition, many kids and teens with TS have other conditions, such as Attention deficit hyperactivity disorder (ADHD) or obsessive-compulsive disorder (OCD). Learning disabilities and sleeping problems are also common in people with TS.
Pediatricians and family doctors may refer a child with symptoms of TS to a neurologist, a doctor who specializes in problems with the nervous system. Before TS can be diagnosed, someone must have tics for at least a year. Although tics may occur every day or intermittently throughout the year, for TS to be diagnosed, there must not be a tic-free period longer than 3 months. The neurologist may ask you to keep track of the frequency and kinds of tics your child is having.
There isn't a specific diagnostic test for TS – instead, the doctor diagnoses it after taking a medical history and doing a physical exam. Sometimes, doctors use imaging tests like magnetic resonance imaging tests (MRIs), computerized tomography (CT) scans, electroencephalograms (EEGs), or blood tests to rule out other conditions that might have symptoms similar to TS.
Just as TS is different for every person, the treatment for it varies, too. Most tics do not interfere with a child's life and do not require any medication. While there isn't a cure for TS, sometimes doctors suggest medications to help control symptoms that begin to interfere with your child's schoolwork or daily life. You doctor will discuss any treatment plans with you and work with you and your family to determine whether medication would be right for your child.
TS is not a psychological condition, but because of self-esteem issues and, unfortunately, the need to deal with other children and adults who may tease your child because they don't understand the disorder, your medical team may also include one of our neuropsychologists. Seeing a psychologist won't stop tics, or the teasing, but it can help kids and teens to talk to someone about their problems, cope with stress better, learn coping skills and practice relaxation techniques.
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.
Discontinuing neuroleptics after long-term use must be done slowly to avoid rebound increases in tics and withdrawal dyskinesias. One form of dyskinesia called tardive dyskinesia is a movement disorder distinct from TS 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. 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.
Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with TS. Recent research shows that stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with TS without causing tics to become more severe. However, the product labeling for stimulants currently contraindicates the use of these drugs in children with tics/TS 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 TS or a family history of TS 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.
Behavioral treatments such as awareness training and competing response training can also be used to reduce tics. A recent NIH-funded, multi-center randomized control trial called Cognitive Behavioral Intervention for Tics, or CBIT, has shown that training to voluntarily move 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 sometimes occur.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2500.