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

8. SimpleComplex Motor tics Eye blinking Nose wrinkling Jaw thrusting Shoulder shrugging Wrist snapping Neck jerking Limb jerking Abdominal tensing Hand gestures Facial contortions Jumping Touching Repeatedly smelling object Squatting Copropraxia Echopraxia Phonic tics Sniffing Barking Grunting Throat clearing Coughing Chirping Screaming Single words or phrases Partial words or syllables Repeated use of word or words out of context Palilalia Echolalia Coprolalia

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)