Tourette Syndrome

1. Tourette Syndrome Child Psychopathology Fall 2005 Susan Bongiolatti, M.S.

2. Tourette Syndrome: Introduction • Neurological disorder characterized by repetitive, involuntary movements and vocalizations called tics • Typical onset in early childhood or adolescence between the ages of 2 and 15

3. Tourette Syndrome: History • In 1825, Itard described the case of the Marquise de Dampierre, a French noblewoman • Beginning at age 7, she reportedly “ticked and blasphemed” • Persisted until her death at age 86

4. History: Georges Gilles de la Tourette • Georges Gilles de la Tourette • French neurologist, student of Charcot • Interest in hysteria, hypnotism • In 1885, published paper describing malidie des tics • Study of 9 patients, including Marquise de Dampierre • Patients characterized by convulsive tics, obscene utterances, repetition of others’ words • Charcot renamed it “Gilles de la Tourette Syndrome”

5. What are tics? • Repetitive, sudden, involuntary or semivoluntary movements or sounds • Non-rhythmic • May appear as exaggerated fragments of ordinary motor or phonic behaviors that occur out of context • Classification • Motor or Phonic (vocal) • Simple or complex

6. Motor Tics • Simple motor tics • Involve single muscle or functionally related group of muscles • Fast and brief, lasting <1 sec • May occur in bouts of rapid succession • Complex motor tics • Involve more muscle groups • Sequentially and/or simultaneously produced movements • May appear purposeful

7. Phonic Tics • “Phonic” vs. “Vocal” • Simple phonic tics • Single, meaningless sound or noise • Complex phonic tics • Linguistically meaningful utterances and verbalizations

9. Tics: Other characteristics • Premonitory feelings or sensations • May be temporarily suppressed • Suggestibility in some individuals • May increase with heightened emotion (e.g., anger, excitement) • Often occur while relaxing, and may increase during relaxation after stress • May diminish during either concentration or distraction or during physical activity • May diminish in situations where might be embarrassing, including doctor’s visits • May persist during all sleep stages, but not common during sleep

10. DSM-IV-TR Tic Disorders • Tourette Syndrome (Tourette’s Disorder) • Chronic Motor or Vocal Tic Disorder • Transient Tic Disorder • Tic Disorder, NOS • Under Disorders Usually First Diagnosed in Infancy, Childhood, or Adolescence

11. Tourette Syndrome: Clinical Presentation • Spontaneous, simple or complex movements and vocalizations that abruptly interrupt normal motor activity • Clinical manifestation diverse: ”no two patients the same” • Majority have minor tics • Coprolalia/copropraxia RARE • Misconception that coprolalia a core symptom may impede diagnosis

12. Premonitory Urges • TS often associated with urge to tic—premonitory urge • Sensory discomfort in muscle or muscle groups preceding tic • Described as physical tension, pressure, tickle, itch, or other sensory experience • Some described as “psychic” phenomenon such as anxiety rather than physical sensation • Performing tic results in relief of sensation • Some patients describe needing to perform tic “just right” in order to relieve sensation

13. Voluntary or Involuntary? • Patients who report premonitory urge can sometimes suppress tics to some degree • Rebound phenomenon • Has contributed to question of whether tics voluntary or involuntary • Susceptibility to distraction and suggestion • Description by patients as purposeful, but unwanted action • However, not all patients aware of premonitory urges or of tics themselves, especially simple tics • Also, presence in sleep suggests not voluntary • “Unvoluntary”: performed by patient but in response to undesirable and irresistible urge (A. Lang)

14. Tourette Syndrome: Diagnostic Criteria DSM-IV-TR Criteria* • Both multiple motor and one or more vocal tics present at some time during illness, although not necessarily concurrently • Tics occur many times a day (usually in bouts) nearly every day or intermittently throughout a period of more than one year, and during this period there was never a tic-free period of >3 months • Onset before age 18 years • Disturbance not due to direct physiological effects of a substance or general medical condition *”Causes marked distress or significant impairment…” removed in Text Revision in 2000

15. Tourette Syndrome: Diagnostic Criteria • Tourette Syndrome Classification Study Group (1993) suggests slightly different criteria. • Differences: • Onset prior to age 21 • Anatomic location, number, type, frequency, complexity or severity of tics changes over time • Motor and/or phonic tics must be witnessed by reliable examiner directly or recorded by video

16. Other DSM-IV-TR Tic Disorders • Tic disorders differ on basis of duration of disorder and presence of motor and/or phonic tics • Chronic Motor or Vocal Tic Disorder • Only motor or only vocal tics • Transient Tic Disorder • May have both or only one tic form • Duration: 4 weeks to 12 months • Tic Disorder, NOS • Criteria not met for other disorders • E.g., onset after age 18, duration < 4 months

17. TS: Diagnosis • No definitive diagnostic test • Diagnosis based on thorough clinical evaluation and history of symptoms • Observation for assessment of symptoms aids differential diagnosis • May not present tics during evaluation • Lab work or imaging can rule out other disorders

18. TS: Differential Diagnosis • Tics and TS may resemble other disorders or conditions • Myoclonus • Dystonia • Hyperkinetic disorders • Extreme ADHD • Seizure disorder • Developmental stuttering • Tics may also be symptom of neurologic insult such as CO poisoning, medication-induced insult, or head trauma

19. Prevalence and Incidence • Originally thought to be rare, but now recognized to be more prevalent • 20% of children experience tics, mostly transient • Prevalence estimates vary greatly • .05% to 3% of all children • Majority suggest 1% of general population • ~750,000* children in US, although many undiagnosed • Occurs in all races and ethnicities • Males 3-4x > females *Tourette Syndrome Association, www.tsa-usa.org

20. TS: Course • Tics typically appear in early childhood (most often by age 6 or 7) • In 96% of patients, disorder manifested by age 11 • Simple motor tics often initial symptom • eye blinking and neck movements common • Phonic tics and more complex motor tics follow in next two years, but may appear later in adolescence • Motor tics tend to progress top-to-bottom and central-to-peripheral • Phonic tics also progress in complexity

21. TS: Course, cont. • Tics generally occur daily, but tend to wax and wane in frequency and intensity • Type, location, and severity may change over time • Tics usually most severe at ~10 years of age • By age 18 years, half of patients are free of tics • For those whose tics persist, severity typically diminishes in adulthood

22. Comorbidity • Approx 90% of patients have comorbid condition • ADHD • Obsessive compulsive symptoms/disorder • Learning difficulties/Learning disorder • Anxiety disorders, including phobias • Mood disorders (depression, dysthymia) • Sleep disturbance • Oppositional defiant disorder • Executive dysfunction • Self-injurious behaviors (may be tics) • Link between comorbid conditions unknown

23. Comorbidity: TS and ADHD • At least 50% of TS patients • Typically presents prior to tics • Impulsive behaviors may be complex tics • E.g., pointing out a flaw in another person’s appearance • Associated with greater social difficulties, academic problems, and disruptive behavior

24. Comorbidity: TS and OCD • Obsessive or compulsive symptoms and/or behaviors suggested to occur in nearly all patients • Clinical OCD occurs in ~25% of TS patients • Can be difficult to differentiate complex tics from compulsive behaviors • E.g., touching something repeatedly until it feels “just right”

25. Course with Comorbidities Jancovic, 2001

26. Etiology of TS • Precise etiology unknown • May be inherited in ~80% of cases • Support for developmental disorder of synaptic neurotransmission involving cortical-subcortical circuitry

27. Etiology: Genetics • Well-established familial basis • Children with 2 TS and/or OCD-affected parents 3x more likely to develop tics than children with only one affected parent (McMahon et al., 2003) • 43% of young children with parent or sibling with TS developed tic disorder (Carter et al., 1994) • When one twin has TS or chronic tic D/O: 77% of identical sibs have TS or chronic tics vs. 23% of fraternal sibs

28. Etiology: Genetics • Likely polygenic in nature • May involve bilineal transmission • Genetic vulnerability may interact with or be modified by environmental factors • Male gender • Prenatal or perinatal factors • Low birth weight • Nonspecific maternal stress • Maternal use of alcohol, cigarettes • Obstetric complications

29. Pathogenesis of TS • Support for TS as a developmental disorder of synaptic neurotransmission • Involves basal ganglia and related neural pathways • Failure in filtering (disinhibition)along striatal-thalamic-cortical circuit, resulting in ineffective removal of unwanted, interfering information • Same circuits and structures involved in OCD, ADHD

30. PANDAS • Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections • Immunological trigger for tics and obsessive-compulsive behaviors • Elevated titers of antistreptococcal antibodies present in some patients with TS • Proposes that antistreptococcal antibodies misidentify and damage basal ganglia neurons • Results in abrupt onset or exacerbation of symptoms • Remains controversial

31. Management and Treatment • No standard practice guidelines for physicians • Highly individualized to patient • Tic control not sole focus of treatment • Determine areas of functional and psychosocial impairment imposed by tics and comorbid conditions

32. Management and Treatment • Multi-component management approach recommended • Education for patient and others • Behavioral approaches • Medication • Academic accommodations • Psychosocial and psychological supports

33. Management: Behavioral Approaches • Several approaches have been studied for tic control • Only “habit reversal” has been shown effective in adults (limited data for children) • Increase awareness of tics and premonitory urges and then performing competing responses • Results in less noticeable tics and may decrease degree of urge

34. Management: Behavioral Approaches • Other behavior-based strategies for tic control not well documented • Anxiety reducing techniques (e.g., PMR), awareness increasing techniques (e.g., videotaping) may help reduce tics

35. Social Impact of TS • Increased self-consciousness and poor self-esteem • Often targets for mocking, bullying • Withdrawal from social situations • Difficulties in school or workplace • Comorbid ADHD or other disorders increases likelihood of social problems

36. Management: Psychosocial and psychological supports • Provide information and assistance in accessing support networks • Address potential social impact (reduced self-esteem, self-consciousness) via psychotherapy • May benefit from social skill building

37. Management: Academic Accommodations • Classroom accommodations • Tic breaks • Untimed tests • Private room for test-taking • TS not federally protected under IDEA provisions for special education accommodation • Can make accommodations under 504 plan for an Individual Education Plan (IEP) • ALSO: Semiformal classroom presentations or videos on TS to educate teacher and students

38. Treatment: Medication • Simply having tics not indicator for medication • Medication usually considered when symptoms interfere with peer relationships, social interactions, academic or job performance, or ADLs • No drug will entirely eliminate tics • Goals: relieve tic-related discomfort or embarrassment and to achieve a degree of control of tics that allows the patient to function as normally as possible

39. Treatment: Medication • Medication may be prescribed for tics, comorbid disorders or both • Monotherapy ideal, but polypharmacy common • Most med use is off-label or not specifically approved for children • Several medication options have been used, representing variety of pharmacological classes

40. Treatment: Medication For reducing tics: • Clonidine, Guanfacine: may treat comorbid anxiety, ADHD, insomnia • Atypcial neuroleptics (e.g., Risperdal) • Conventional neuroleptics (e.g., Haldol) • Botunlinum toxin A (Botox): for severe focal tics • Benzodiazepine (e.g., Klonopin) • Less common, but promising: • GABA agonist/muscle relaxant (Baclofen) • Dopamine agonist (Pergolide): may also help ADHD

41. Treatment: Medication Comorbid disorders: • Follow guidelines for individual disorders (e.g., ADHD, OCD, depression) • Controversy regarding whether ADHD treatment with psychostimulants exacerbates tics • SSRIs: Effective for comorbid obsessions and compulsions, anxiety, and, possibly, depression; mixed results about tics.

42. Treatment: Other Approaches • Alternative approaches such as fish oil supplements are being investigated • Dietary modification and allergy testing have been explored for tic management but not supported • High frequency Deep Brain Stimulation (DBS) shown to be effective in small number of cases (no children)