Pediatric Tourette Syndrome Clinical Presentation

Updated: Mar 25, 2015
  • Author: Jason S Hawley, MD; Chief Editor: Eduardo Dunayevich, MD  more...
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Presentation

History

The hallmark clinical features of Tourette syndrome (TS) are tics with coexisting behavior disorders such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or impulse control behaviors. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) has also established criteria for the clinical diagnosis of TS.

DSM-IV-TR diagnostic criteria from for Tourette syndrome

Diagnostic criteria from DSM-IV-TR for Tourette syndrome (307.23) are as follows:

  • Both multiple motor and one or more vocal tics must be present at some time during the illness, although not necessarily concurrently

  • The tics occur many times a day (usually in bouts) nearly every day or intermittently over more than 1 year, during which time there must not have been a tic-free period of more than 3 consecutive months

  • The age at onset is younger than 18 years

  • The disturbance is not due to the direct physiological effects of a substance (eg, stimulants) or a general medical condition (eg, Huntington disease or postviral encephalitis)

A fifth criterion, included in the earlier DSM-IV but deleted from the DSM-IV-TR, was “The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning.” The rationale behind removing this element of the diagnosis was that many patients with mild TS do not have symptoms that interfere with their daily function and job.

Furthermore, this criterion had the potential to lead to patients with TS being stigmatized for having a condition that causes significant impairments in daily function. The DSM-IV-TR authors felt that this could lead to job discrimination and other forms of labeling. The deletion of this criterion reflects the recognition that many patients with TS do not have significant problems related to their condition.

Clinical characteristics of tics

Tics are abnormal movements or vocalizations that are diverse in presentation. Tics can be simple movements or vocalizations such as eye blinking, coughing, or grunting. They also can be highly complex movements such as running, jumping, or vocalizing phrases or repetitive words. This diversity of presentation can be challenging for the examiner to characterize these abnormal and somewhat bizarre movements.

However, distinctive characteristics can help distinguish tics from other abnormal movements, such as tremor, chorea, myoclonus, or dystonia. Tics are considered semivoluntary, meaning that the patient can often volitionally suppress the movement for a period a time, suppressing the emotional urge or uncomfortable feeling that often arises to perform the tic. Furthermore, an emotional release often occurs after the tic or repetitive tics are completed.

Tics are often suggestible, and can be worsened by stress, boredom, and fatigue. After a period of stress, patients with TS often release their tics when they are alone and relaxed. One frequent clinical observation is that children with TS often spend their time at school suppressing tics, only to come home to a more relaxed and secluded environment where they will release their tics. Between tics, no other abnormal movements occur.

Thus, the suppression ability, the emotional urge and relief associated with the movement, and the suggestibility of the movement, are all clinical features that help differentiate tics from other hyperkinetic movement disorders.

Classifications of tics

Tics are diverse and sometimes bizarre. They are typically divided into motor or vocal/phonic tics. Tics can also be categorized as simple or complex, based on the complexity of the movement or vocalization.

Simple motor tics involve a single muscle or group of muscles. The tic may be a brief jerking movement (clonic tic), a slowed sustain movement or posture (dystonic tic) or a tensing of individual muscle groups (tonic tic). Examples of simple motor tics include eye blinking, nose sniffing, coughing, neck twitching or jerking, eye rolling, and jerking or postured movements of the extremities. Simple motor tics typically consist of simple, nonpurposeful movements.

Complex motor tics involve movements that often involve multiple muscle groups and may appear as semipurposeful movements or behaviors. Examples of complex motor tics include touching oneself or others, hitting, jumping, shaking, or performing a simulated motor task. Also included in the spectrum of complex motor tics is copropraxia and echopraxia (imitating movements of others).

Simple phonic tics are simple vocalizations or sounds. Examples include grunting, coughing, throat clearing, swallowing, blowing, or sucking sounds.

Complex phonic tics are vocalizations of words and/or complex phrases. These verbalizations can be complex and sometimes socially inappropriate. Coprolalia is a complex phonic tic characterized by the shouting of socially inappropriate language (obscenities and profanities). Coprolalia occurs in fewer than half of patients with TS, although it can be one of the most distressing symptoms of the condition.

Patients with TS may have complex phonic tics characterized by the repetition of someone else's words (echolalia) or the repetition of one's own words (palilalia).

Premonitory symptoms of tics

Premonitory feelings or sensations precede motor and vocal tics in more than 80% of patients. These premonitory phenomena may be localizable sensations or discomforts, including the following:

  • Burning feeling in the eye before an eye blink

  • Tension or a crick in the neck that is relieved by stretching of the neck or jerking of the head

  • Feeling of tightness or constriction relieved by arm or leg extension

  • Nasal stuffiness before a sniff

  • Dry or sore throat before throat clearing or grunting

  • Itching before a rotatory movement of the scapula

Rarely, these premonitory feelings, termed in one report as extracorporeal phantom tics, involve sensations in other people and objects and are temporarily relieved by touching or scratching them.

Behavioral symptoms

Behavioral symptoms are common in TS. The 2 most common disorders are OCD and ADHD. The symptoms of OCD (as well as ADHD) may be the dominating and debilitating feature of TS in certain patients.

Questionnaire studies for patients with TS have also demonstrated high rates of mood disorders and anxiety disorders, including panic disorder and simple phobias. Compared with the general population, patients with TS have a higher rate of bipolar disorder.

OCD is the most frequent behavior symptom associated with TS. The rates of OCD in patients with TS range from 20-60%. Obsessive-compulsive symptoms have an increased prevalence in first-degree relatives with tics.

Using longitudinal data from mother-completed questionnaires, the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort evaluated 6,768 children and the prevalence of co-occurring neuropsychiatric conditions. The results suggest that co-occurring OCD and ADHD may be lower in TS cases than previously reported; only 8.2% of TS ”intermediate” cases had both OCD and ADHD, and 69% of TS ”intermediate” cases had neither co-occurring OCD or ADHD. [10]

Obsessions are defined by the DSM-IV-TR criteria as recurrent and persistent thoughts, impulses, or images experienced at some time during the disturbance as intrusive and inappropriate and causing marked anxiety and distress. The thoughts, impulses, or images are not simply worries about real-life problems.

Compulsions are repetitive behaviors (eg, hand washing, ordering, checking) or mental acts (eg, praying, counting, repeating words silently) in response to an obsession or according to rules that must be applied rigidly. The behaviors or mental acts are aimed at preventing or reducing distress or preventing some dreaded event or situation; however, these behaviors or mental acts either are not connected in a realistic way with what they are meant to neutralize or prevent or they are clearly excessive.

The rates of ADHD in TS have ranged from 40-70%. Individuals with ADHD have difficulty focusing their attention, with either difficulty inhibiting their attention to nonrelevant stimuli or difficulty focusing and concentrating on relevant tasks for prolonged periods of time (such as schoolwork) without becoming distracted. Unlike OCD, a genetic link between ADHD and tics is not as clear. Studies have not shown an increased incidence of ADHD in first-degree relatives of individuals with TS. The symptoms of ADHD are often recognized before the tics. Typically, ADHD is commonly treated with stimulants, which can worsen tics. Stimulants do not cause TS, but are more likely to bring out the underlying and often unrecognized tics. Like OCD, the symptoms from ADHD may be more limiting than the tics.

While OCD and ADHD are the 2 most common neurobehavioral symptoms of TS, other disorders pertaining to poor impulse control are frequently seen in individuals with TS. Irritability, rage attacks, inappropriate sexual aggressiveness, and antisocial behavior have all been reported. A rare but very challenging behavior associated with TS is self-mutilating behavior. This behavior has components of both obsession and compulsions and can cause significant morbidity. Individuals often damage their own body by scratching, biting, cutting, or hitting themselves. Often an irresistible urge arises to perform these behaviors.

Specific learning disabilities and subtle neurologic signs are more frequent in patients with TS, further complicating management. Children, although intelligent, may have poor academic achievement, and slight motor coordination difficulties may preclude them from doing well in athletic endeavors.

Anxiety and mood disorders are common in TS. Mood disorders are well recognized as being more prevalent in individuals with TS than the general population. The genetic association between these mood disorders and tics/TS is not clear.

Social and functional impairment

Symptoms from TS can lead to significant limitations in otherwise normal activities. Individuals with TS who have severe motor tics frequently avoid situations with high social visibility. Stress and anxiety in those situations frequently worsen or accentuate the tics themselves.

Phonic or vocal tics (sounds or words) can cause significant social embarrassment. Coprolalia (verbalization of inappropriate words or phrases) and copropraxia (making obscene gestures) can cause significant social embarrassment and lead to isolating patients with TS. Moreover, in school-aged children, these tics can frequently be misinterpreted as rude behavior, leading to disciplinary action.

The associated behavior disorders of ADHD, OCD, and other disorders, such as impulse control disorders, often cause more morbidity that the tics themselves. In children, the behavior complications frequently lead to poor academic performance, social isolation, and emotional problems.

Disorders of attention and concentration may not be just secondary to ADHD, as patients with TS frequently have uncontrollable intrusions of thoughts or an obsessive fixation on irrelevant objects. Moreover, the associated tics of TS can be somewhat volitionally suppressed, and the mental and emotional effort used to suppress tics may also interfere with attention and concentration in school and work.

Developmental history

A developmental history, including developmental milestones and growth curves, is important to exclude genetic disorders such as Down syndrome, autistic spectrum disorders, and other developmental and chromosomal disorders. Tics, ADHD, and OCD can be seen in these conditions.

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Physical Examination

Aside from the presence of tics, children with TS will have a normal neurologic examination. Similarly, the mental status examination has no particularly abnormal findings with the exception of the presence of tics, which should be commented on in the behavior, speech, and/or psychomotor sections of the mental status examination, as appropriate.

Occasionally, although not consistently, some decreased attention may be noted, if the patient is distracted by their tics. TS is often comorbid with other psychiatric conditions; therefore, features of comorbid conditions may be noted on the examination. For example, depressed or anxious affect may be noted if the patient has a comorbid mood or anxiety disorder, or difficulty focusing, distractibility, or increased psychomotor behaviors may be noted if the patient has comorbid ADHD.

Because of the increased risks of psychiatric comorbidities such as depression, OCD, and anxiety, individuals with TS are suspected to have a slightly increased risk of self-injurious behavior and suicide. Although data remain unclear, in a recent examination on life-threatening behavior in patients with TS, subgroups within the TS population warranted close attention.

A retrospective study showed that individuals with malignant TS, defined as having at least 2 emergency department visits or at least 1 hospitalization for TS symptoms, account for approximately 5% of patients referred for subspecialty evaluation. In this group, mood disorders, self-injurious behavior, suicidal ideation, and poor response to therapy were significantly increased. This group is at risk, and a more detailed examination for suicide risk is recommended for individuals with a history suggesting malignant TS. [11]

It is not unusual for children with TS to suppress their tics during medical evaluation, only to release them when they are out of the physician's office. As with any hyperkinetic movement disorder, direct visualization of the abnormal movement aids significantly in making the diagnosis. Parents should be encouraged to videotape their children at home when they are having frequent tics.

A general neurologic examination is important to exclude other conditions that can present with tics. Moreover, the abnormal movement needs to be correctly characterized as a tic to differentiate it from myoclonus, chorea, tremor, and dystonia.

While TS is the most common cause of inherited tics, other more progressive neurodegenerative conditions can present with tics. These disorders include Huntington disease, neuroacanthocytosis, Wilson disease, Hallervorden-Spatz disease, and primary dystonia. A thorough neurologic examination should examine for features suggestive of these conditions.

The presence of Kayser Fleisher rings in the eye is diagnostic of Wilson disease, and should be assessed for in any young patient with a hyperkinetic movement disorder.

Tics have been described in Huntington disease, and the presence of chorea, motor impersistence, abnormal saccades, and gait difficulties is suggestive of this neurodegenerative disorder. In children, Huntington disease often presents with rigidity and bradykinesia (the Westphal variant).

A thorough gait and motor examination should be performed to assess tone and strength.

Examination of the skin should be performed. Neurocutaneous syndromes such as tuberous sclerosis and neurofibromatosis have been rarely reported to be associated with the presence of tics.

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