Tourette Syndrome Case File

Tourette Syndrome Case File

Eugene C. Toy, MD, Ericka Simpson, MD, Pedro Mancias, MD, Erin E. Furr-Stimming, MD

CASE 48

An 8-year-old boy is brought to the neurologist’s office on the recommendation of the allergist. His parents complain that their son is constantly clearing his throat and coughing and often has repetitive jerking hand movements and shoulder shrugging. These symptoms started approximately a year ago. The child has a socially disturbing habit of constantly touching his genital region and recently has been having difficulty paying attention at school. The child had a normal birth and development and no recent illnesses or exposure to medications. He suffered from night terrors when he was 4 years old and still occasionally sleepwalks but was never on any medications. The family history is remarkable for an older brother with attention deficit hyperactivity disorder (ADHD). On examination, the patient is a quiet, cooperative boy in no apparent distress. He admits to the stated behavior and reports an overwhelming desire to clear his throat, which he is unable to suppress. When reminded of this behavior, he starts to manifest it despite an obvious attempt to control it. He exhibits multiple, repetitive stereotypical jerking movements of his hand and shoulder as well as twisting of his neck. He states that he is aware of these movements and can control them only briefly with mounting tension, which results in an inevitable release with more exaggerated behavior. The child manifested an unusual insight into his behavior and appears to be highly intelligent and motivated. He is embarrassed by his habit of touching his genitals, but cannot resist an urge and instead, attempts to cover it up by adjusting his clothing.

▶ What is the most likely diagnosis?

▶ What is the next diagnostic step?

▶ What is the next step in therapy?

ANSWERS TO CASE 48:

Tourette Syndrome                                                       

Summary: An 8-year-old boy has a 1-year history of motor and vocal/phonic tics accompanied by obsessive-compulsive behavior (OCB) that has affected his school performance.

• Most likely diagnosis: Tourette syndrome with concurrent obsessive-compulsive disorder (or behavior) (OCD/OCB).
• Next diagnostic step: Tourette syndrome is purely a clinical diagnosis based on the history and symptoms and does not require any additional testing.
• Next step in therapy: Education of parents, teachers, community. Pharmacologic therapy may be started if indicated. Comprehensive behavioral intervention for tics is also available.

ANALYSIS

Objectives

1. Know the diagnostic criteria for Tourette syndrome and its comorbidities.
2. Know etiology of tics other than Tourette syndrome.
3. Understand the management of tics and their accompanied behavioral symptoms.

Considerations

This 8-year-old boy has been noted to have phonic/vocal and motor tics. He has OCB and is having difficulty in paying attention at school. His examination is otherwise unremarkable. This boy most likely has Tourette syndrome. Tics are the clinical hallmark of Tourette syndrome. Tics are involuntary, brief, and repetitive movements or sounds induced by internal stimuli that are only temporarily suppressible. Of note, the tics associated with Tourette syndrome are often suggestible; discussing the tics leads to an irrepressible urge to manifest the suggested tics despite attempts to control them. A full evaluation including physical examination, assessment for illicit drugs, mental status examination, and neurologic examination are important. The most important aspect of therapy is education, as it can be very distressing for both child and parents.

APPROACH TO:

Suspected Tourette Syndrome                                                     

DEFINITIONS

TICS: Sudden, involuntary, recurrent, nonrhythmic motor movements or vocalizations generally proceeded by urge. They are the hallmark feature of neurodevelopmental disorders with onset in childhood called tic disorders. Tic disorders consist of Tourette syndrome, chronic tic disorder (motor or vocal type), and provisional tic disorder.

TOURETTE SYNDROME: Based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-V) definition, the patient should have at least two or more motor tics and at least one vocal tic for at least a year. The tics should start before age 18 and the symptoms should not be secondary to taking medicine or due to other medical conditions (eg, seizures, Huntington disease, or postviral encephalitis).

CLINICAL APPROACH

Although Tourette syndrome is the most common cause of childhood-onset tics, there are many other neurologic and psychiatric disorders that exhibit tics as part of their presentation. The differential is based on other accompanied symptoms. Autism spectrum disorders (ASDs) are usually manifested by impaired social interactions, poorly developed language, and variable cognitive impairment. Although symptoms of Tourette syndrome and OCD can lead to certain self-imposed social isolation and behavioral issues, children with Tourette syndrome have excellent insight into their condition and can interact and function fully with the environment in which they are accepted. There are usually no cognitive or intellectual deficits associated with Tourette syndrome. Patients with progressive neurodegenerative disorders such as neuroacanthocytosis and Huntington disease can often present with tics but rapidly develop other hyperkinetic movements that differentiate them from Tourette syndrome.

Tourette syndrome is a neuropsychiatric disorder characterized by motor and phonic tics usually starting in childhood and often accompanied by poor impulse control, OCD, and ADHD. The cause of Tourette syndrome is unknown, but in many cases, a genetic component is seen. Environmental and developmental factors are also postulated to have a contributory role, but no specific factors have been currently identified.

Current estimates of prevalence report that 1 out of every 160 children between the age of 5 and 17 has Tourette syndrome in the United States and 1 out of every 100 children (1%) has Tourette syndrome or an other tic disorder.

Tics are the clinical hallmark of Tourette syndrome. Tics are involuntary, brief, and episodic movements or sounds induced by internal stimuli that are only temporarily suppressible. It is often difficult to differentiate tics from compulsive movements, which are semivoluntary and induced by unwanted feelings or compulsion. For example, in our patient, touching of the genitalia is probably not a tic but a compulsion, whereas throat clearing, coughing, and shoulder shrugging are simple phonic and motor tics, respectively.

Tics are divided into simple and complex. Simple motor tics involve single groups of muscles, causing jerk-like movements in cases of clonic tics, or briefly sustained posture in cases of dystonic or tonic tics. Simple clonic tics include eye blinking, head or limb jerking, and nose twitching. Simple dystonic tics include oculogyric deviation, bruxism, blepharospasm, and torticollis-like posturing. Most common tonic tics include tensing of abdominal and other muscles. Simple phonic/vocal tics include coughing, sniffing, throat clearing, and grunting, among others.

Complex motor tics include coordinated movements that involve multiple muscles and often resemble normal movements. They vary from head shaking to touching and hitting. A complex tic should be considered a compulsion if it is preceded by obsessive thought, anxiety, or fear. Complex tics are often camouflaged by incorporating them into seemingly planned and purposeful movement. Some patients become experts at those so-called parakinesias, confusing the clinical picture. Complex phonic tics include linguistically meaningful verbalizations. Although rare, but notoriously associated with Tourette syndrome, coprolalia, the shouting of obscenities or profanities, may be seen. More common, however, is repetition of someone else’s or one’s own words or sentences (echo or palilalia). The related complex motor tic, when a patient briefly exhibits obscene gestures, is called copropraxia.

In contrast to most other hyperkinetic movement disorders, tics are involuntary, episodic, repetitive, and often stereotypic, being mistaken for mannerisms. Tics wax and wane and vary in frequency and intensity. The onset of tics is typically between 5 and 9 years, with tendency to increase in frequency and intensity between age 8 and 12. Most patients will show symptom improvement or become tic-free in late adolescence; however, some continue to have tics into adulthood. Tics are unpredictable and often change in distribution. Most patients report an ability to suppress tics with mental effort at the expense of mounting inner tension with the eventual explosive release in a more appropriate environment. Despite common belief, suppressibility is not unique to tics. Tics are often exacerbated by stress, anxiety, excitement, illness, fatigue, or exposure to heat. The unique feature of tics is suggestibility. No other movement disorder has this feature. Also in contrast to other hyperkinetic movements, motor and phonic tics can persist during all stages of sleep.

In addition to tics, patients with Tourette syndrome exhibit multiple behavioral symptoms including ADHD, OCD/OCB, learning difficulties, behavioral problems, anxiety, mood problems, sleep problems, social skill deficits, and social functioning. ADHD and OCD often interfere with learning and social activities more than tics. It is essential to recognize and treat those symptoms to help an affected child.

It is important to elucidate the family history of ADHD and OCD, which is well accepted as part of the spectrum of neurobehavioral symptoms of Tourette syndrome. In our case, a family history of ADHD in his older brother adds to the diagnostic certainty of Tourette syndrome in this patient. Obsessions are intense and often intrusive thoughts, which compel patients to perform mostly meaningless, time-consuming, and sometimes embarrassing rituals or compulsions. In contrast to primary OCD, in Tourette syndrome, symptoms rarely relate to hygiene and compulsive cleaning; the behaviors more commonly involve symmetry requiring constant rearrangement, forced touching; fear of harming self or family; and an overwhelming desire to do things “right” (in a very strict predetermined way). One of the most distressing symptoms of Tourette syndrome is a self-injurious behavior, which varies from minor skin damage by biting or scratching to life-threatening injuries. These irresistible urges are not tics, but obsessions followed by a compulsive injurious behavior.

TREATMENT

The first and most important component in the management of Tourette syndrome is education of the patient and caregivers, who in turn should educate teachers, coaches, and principals. Most Tourette syndrome patients do not need medications. Reassurance and help in arranging the most productive environment for the child at school and at home are necessary.

However, if education and behavioral modification are not enough, and tics interfere with daily functioning, medications can be considered to improve the child’s performance and facilitate social interactions. Priority should be given not to the most visible, but to the most disturbing symptoms, which are often related to the child’s ADHD or OCD/OCB. Tics should be treated if they interfere with school or work, cause embarrassment, disturb others to the degree that the patient avoids social interactions, or cause pain to the patient. Tics that can cause immediate or potential injury to the patient need to be treated aggressively.

Most physicians prefer initiation of treatment with off-label (not Food and Drug Administration [FDA] approved specifically for treating tics) use of alpha-2 adrenergic agonists guanfacine and clonidine, which are FDA approved for hypertension. Guanfacine is generally preferred over clonidine due to less sedative effects. Newer atypical antipsychotic drugs (risperidone, olanzapine, quetiapine, aripiprazole) have been reported to demonstrate tic-suppressing effects in Tourette syndrome patients, but these seem to be less effective than the classical neuroleptics. The most effective pharmacologic agents for tic suppression are the first generation of dopamine receptor blocking agents. Haloperidol (Haldol) and pimozide (Orap) are the only neuroleptics that are approved by the FDA for the treatment of Tourette syndrome. Typical neuroleptics such as Haldol, despite being effective, are rarely used as first-line therapy because of their side effects.

The most feared side effects of the long-term neuroleptic therapy are tardive dyskinesia and hepatotoxicity. In addition to dopamine receptor blockers, the dopamine depleter, tetrabenazine, has been found to be effective and more tolerable in the treatment of tics. Botulinum toxin injections have also been found to be beneficial in treating focal motor and vocal tics. A growing number of case reports and studies indicate that deep brain stimulation (DBS) can be an effective therapy for patients with severe, debilitating, or socially unacceptable tics. It remains an experimental surgical procedure, however, and no randomized control trials supporting benefit are currently available.

Often, tics do not present a major concern to the patient, but behavioral symptoms that do not respond to a more conservative approach of behavioral modification and classroom adjustments require pharmacotherapy. Treating these comorbidities can improve the quality of life in patients with tics. The most effective agents for the treatment of ADHD are central nervous system (CNS) stimulants, such as methylphenidate (Ritalin), dextroamphetamine (Dexedrine), pemoline (Cylert), and many others. The problem is that according to some reports CNS stimulants can exacerbate or precipitate tics in up to 25% of patients. If this is the case, non-CNS stimulants like alpha-2 agonists and tricyclic antidepressants can be used instead of stimulants. However, OCB responds well to the combination of cognitive-behavioral psychotherapy and selective serotonin reuptake inhibitors (SSRIs), including fluoxetine (Prozac) and sertraline (Zoloft).

In this case, the child and parents were informed of the diagnosis but chose not to start pharmacotherapy. The patient’s teachers were also informed, and they modified his class environment. He improved in his school performance, and within a year his tics became less pronounced and less bothersome to the patient and his immediate family.

CASE CORRELATION

• See also Case 2 (Huntington Disease) and Case 6 (Tardive Dyskinesia)

COMPREHENSION QUESTIONS

48.1 Which of the following behavioral abnormalities is associated with Tourette syndrome?

A. ADHD

B. Schizophrenia

C. Trichotillomania

D. Autism spectrum disorder

48.2 Which of the following statements is correct regarding Tourette syndrome?

A. Motor and vocal tics remit during sleep.

B. Tics in Tourette syndrome are suggestible by talking about it or demonstrating it.

C. Tics and compulsions mean the same thing in Tourette syndrome.

D. Risk of Tourette syndrome is associated with vaccinations as an infant.

48.3 A 12-year-old boy has been recently diagnosed with Tourette syndrome. Medications are being contemplated to help control the symptoms. Which of the following is most likely to be prescribed at initial therapy?

A. Haloperidol

B. Dopamine blocking agents

C. Anticholinergic agents

D. Tricyclic antidepressant

ANSWERS

48.1 A. In addition to tics, patients with Tourette syndrome exhibit multiple behavioral symptoms, most commonly ADHD and OCD/OCB.

48.2 B. The tics are a characteristic aspect of Tourette syndrome and can be brought on by talking about it. This is referred to as “suggestible.” Tics are involuntary, unpredictable, and tend to increase during times of stress.

48.3 B. Dopamine blocking agents are commonly prescribed as first-line therapy for Tourette syndrome. Although haloperidol is sometimes used for this condition, it is used rarely because of side effects.

    CLINICAL PEARLS    

▶ Tourette syndrome is the most common cause of childhood tics. ▶ Most tics are suggestible and at least temporarily suppressible. ▶ Poor impulse control, ADHD, and OCB are often more debilitating than tics. ▶ Treat tics only if they interfere with school, work, or social activities. ▶ Patients with Tourette syndrome almost always have excellent insight into their disease, even very early in life.

REFERENCES

American Psychiatric Association. Obsessive-compulsive and related disorders. In: American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th ed. Arlington, VA: American Psychiatric Association; 2013. 

Feigin A, Clarke H. Tourette’s syndrome: update and review of the literature. Neurologist. 1998;4: 188-195. 

Hensiek AE, Trimble MR. Relevance of new psychotropic drugs for the neurologist. J Neurol Neurosurg Psychiatry. 2002;72:33, 281-285. 

Hirschtritt ME, Dy ME, Yang KG, Scharf JM. Child neurology: diagnosis and treatment of Tourette syndrome. Neurology. 2016;87(7):e65-e67. 

Jankovic J. Botulinum toxin in the treatment of dystonic tics. Mov Disord. 1994;9(3):347-349. 

Jankovic J, Glaze DG, Frost JD. Effects of tetrabenazine on tics and sleep of Gilles de la Tourette’s syndrome. Neurology. 1984;34(5):688-692. 

Jankovic J, Kurlan R. Tourette syndrome: evolving concepts. Mov Disord. 2011;26(6):1149-1156. 

Robertson M, Eapen V. Pharmacologic controversy of CNS stimulants in Gilles de la Tourette’s syndrome. Clin Neuropharmacol. 1992;15(5):408-425.

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