1. Update on TOURETTE SYNDROME
Paediatric Society of Queensland ASM 2012
Dr Jim Pelekanos
Paediatric Neurologist
RBWH
UQCCR

2. Movement disorders chapter in any neurology book:
- Bradykinesias Hyperkinetic movement disorders:
Athetosis
Ballismus
Chorea
Dystonia
Myoclonus
Tics
Tremor

3. TICS- definition
involuntary or semivoluntary contractions of functionally related groups of muscles resulting in:
sudden
brief
intermittent
nonrhythmic
repetitive
movements or sounds

4. MOTOR TICS - examples blinking, eye deviation
eye closure, eyebrow raising
grimacing, mouth opening
head shaking
shoulder shrugging
torticollis (head turning)
tensing limb or abdominal muscles
skipping
imitating others (echopraxia)
obscene gestures (copropraxia)
“blocking” tics

5. SENSORY ASPECTS of TICS
very common
patients has an unpleasant sensation in the affected body part which is “relieved” when a certain action is performed - premonitory urge
sensory aspects can occur without motor component
overlap with compulsions

6. VOCAL TICS simple or complex sniffing, snorting
throat clearing, coughing
grunting
barking, roaring, shouting
echolalia (repeating someone else’s words)
palilalia (repeating one’s own words)
coprolalia (obscene words – quite uncommon)

7. TICS- characteristics
common- ? up to 10% of 5-10 year old boys have transient tics
fluctuate over time
many times per day
can be voluntarily suppressed for a short period
(then “pressure”)
worse when nervous, excited, tired;
better or worse when relaxed,
often better when concentrating, absorbed (“hyperfocus”)
often (not always) disappear during sleep
sometimes triggered by specific external cues (“suggestibility”)
rostro-caudal progression

8. How do we diagnose tics ? visual confirmation
(direct observation in the clinic or by video clip)
differentiate tics from other movement disorders / seizures / stereotypies etc
exclude other rare neurological disorders which can mimic tics

9. PRACTICAL CLASSIFICATION OF TIC DISORDERS
transient tic disorder (TTD) < 12 months
chronic motor or vocal tics (CTD) > 12 months
Tourette Syndrome (TS)
“NOS” / “provisional TD”

10. TOURETTE SYNDROME (TS)
Described in 1885 by Georges Gilles de la Tourette ( ) defined by:
1) multifocal motor tics
2) one or more vocal tics
3) present for more than one year
4) age of onset prior to 21 years

11. Tics – natural history often begin at 3 to 8 years
peak onset at 6 to 7 years
fluctuate +++
maximum tic severity at 8 to 12 years
then many improve, though most adults still have some tics
adult onset is possible

12. Prevalence of Tourette Syndrome
meta-analysis of 13 studies in children:
0.77% of children (95% confidence interval, %)
M > F (1.06 % of boys v 0.25% of girls)
Transient tic disorder: 2.99%
meta-analysis of 2 studies in adults: prevalence of TS = 0.05%
Knight, T. et al. (2012) Pediatr Neurol 47(2): 77-90

13. TS – associated features / comorbidities
ADHD ( ? 50% - 70% of boys with TS)
obsessive-compulsive behaviours / disorder (OCD- ? %)
learning difficulties (up to 50%)
speech dysfluency (like stuttering)
co-ordination problems
conduct disorder / ODD / “explosiveness”
autism / Asperger syndrome / personality disorders
low self esteem / poor social adaptation
depression (20-50%), anxiety disorders, substance abuse
self injury
sleep disorders, migraine
inappropriate sexual behaviour / gestures (copropraxia)

14. Prevalence of Tourette Syndrome co-mordidities
OCD and ADHD prevalence in TS may be lower than previously thought from clinic-based studies
a population based study:
69% did not have ADHD or OCD
8.2 had both ADHD and OCD
Scharf J. et al. (2012) J. Am. Acad. Child Adolesc. Psychiatry, 51(2):192–201

15. if a person with TS does develop co-morbidities, they don’t usually all begin at the same age – different aspects can emerge over the first few years
tics and comorbid features usually (but not always) fluctuate in severity at the same time as each
some comorbidities (eg ADHD, OCD) might be slightly different clinically and biologically to these conditions in the non-TS population

16. Quality of life outcomes are more related to comorbidities than to the tics
medications for comorbid features generally have fewer side effects than the “tic medications”
therefore, identification and management of comorbid features of TS is often the most helpful and rewarding thing we can do for our TS patients

17. What are TICS ?
Theory:
"some tics are inappropriately expressed (normally inhibited) fragments of primitive motor and vocal programs ….."

18. BIOLOGICAL BASIS OF TS - SUMMARY
exact mechanism unknown
strong genetic + environmental factors affect brain development (BG + cortical structures)
TS is thought to be a disorder of :
cortical – striatal – thalamic – cortical circuits:
decreased inhibitory output from basal ganglia resulting in
increased activity in frontocortical areas

19. PANDAS
Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infection
“In summary, this author believes that the proposed poststreptococcal autoimmune disorder PANDAS deserves careful study, but that, to date, its validity remains unproven”.
Singer 2011

20. TS- AN APPROACH TO TREATMENT -philosophy
"It is not the disorder itself but the reaction to it that affects the lives of those with TS most."
Andrew Rosen Tourette's Syndrome: The School Experience
Clinical Pediatrics Sept 1996:

21. TS- AN APPROACH TO TREATMENT (I)
make correct diagnosis
investigations- rarely needed
explanation / reassurance / support
emphasize that the problem is not primarily psychological
counsel family- pay less attention to the tics
counsel child- how to deal with the questions / teasing; teach "tricks”
counsel teachers (TSAA podcast at
explain likely long term outcome – probable improvement

22. www.tourette.org.au TSAA TSAA
PURPOSE—The purpose of the Association is to support people with Tourette Syndrome and increase awareness of the disability among medical practitioners, public utilities and the general public.
ACTIVITIES—Support those with TS and their families.
Gather and circulate to members information regarding Tourette Syndrome and available forms of treatment.
Circulate information regarding Tourette Syndrome to doctors, schools and other interested parties.
Gain publicity through the media and other outlets about TS.
Raise funds for research into the causes and cure of Tourette Syndrome and to assist in the achievement of the above activities.
The national office of the Tourette Syndrome Association of Australia (TSAA) is located in Sudney. It was founded in 1989 and is the only national, voluntary, non-profit memebrship organisation dedicted to identifying the cause, finding the cure and controlling the effects of TS.

23. TS- AN APPROACH TO TREATMENT (II)
define which aspects are causing the disabilities and treat each appropriately (the profile)
formal therapy if necessary (CBT, educational assessments etc)
decide if medications are needed for tics
painful tics
significant secondary emotional, social or academic problems (interfering with quality of life or functioning)
decide if medications are needed for other aspects
trial medications (“ n=1 study” approach)

24. first visit never start medications explanation diary
review in 4 – 8 weeks

25. examples of some real patients on a hypothetical “profile” scale

26. TS – nonpharmacologic treatments for tics
Contingency management
Relaxation training
Cognitive behavioural therapy
Habit reversal training (HRT)
misc others
this area has been a little disappointing – these treatments are either unavailable, expensive, ineffective (or effective for only a short period) or the effort of training can make some other aspects of TS worse

27. CBIT - Comprehensive behavioural intervention for tics
combination of techniques – predominantly habit reversal training
currently being researched but some are cautiously optimistic that it might reduce tic severity without medications
currently an 8 week program, research only

28. Medications used in Tic Disorders Singer 2011
Tier 1
Tier 2
Tier 3
Drug
Category
Clonidine B
Pimozide A
Dopamine agonists
Guanfacine
Fluphenazine
Pergolide
(B)
Baclofen C
Risperidone
Pramipexole ?
Topiramate
Aripiprazole
Tetrabenazine
Levetiracetam
Olanzapine
Delta-9-THC
Clonazepam
Haloperidol
Donepezil
Ziprasidone
Botulinum toxin
Quetiapine
Sulpiride and tiapride –
A - Good supportive (two randomized, placebo-controlled studies).
B - Fair (one positive placebo-controlled study).
C - Minimal (open-labeled, case reports).
Italicized drugs are FDA-approved for the treatment of tics.

29. Medications for Tics - summary
Due to significant side effects, I consider medications for tics are a last resort
clonidine, risperidone
start low, go slow
monitor for the inevitable side-effects
consider trial off after a few months – their role is really only to get the patient through a bad patch

30. Attention Deficit Disorder
medication use must be part of overall program (eg educational testing, behavioural strategies)
tricks and tips:
check hearing
look for “fixed” specific learning difficulties
OCD
sedation from medications
sleep disorders

31. Medications for ADHD in TS
Meta-analysis: treatment of ADHD in children with comorbid tic disorders
“CONCLUSIONS: Methylphenidate seems to offer the greatest and most immediate improvement of ADHD symptoms and does not seem to worsen tic symptoms. Alpha-2 agonists offer the best combined improvement in both tic and ADHD symptoms. Atomoxetine and desipramine offer additional evidence-based treatments of ADHD in children with comorbid tics. Supratherapeutic doses of dextroamphetamine should be avoided”
J Am Acad Child Adolesc Psychiatry Sep;48(9):884-93

32. Medications for ADHD in TS
methylphenidate + clonidine
may be better than either alone
may treat different aspects of the disorder
Neurology 2002;58:

33. Medications for ADHD in TS - summary
stimulants are well studied, very effective and not contraindicated.
if they aren’t working, go through the checklist again
long acting preparations are sometimes not well tolerated
atomoxetine ? not effective in the ADHD of TS

34. Obsessive-compulsive disorder
Obsessions – the part of the iceberg invisible under the water !
how do we know if a young child is having obsessions?
ask them !!
look for compulsions (eg distal “tics” in hands)
look for anxiety – often the “flip side of the coin” of OCD in TS

35. Medications FOR OCD in TS - there are no major studies of OCD Rx in TS
SSRIs
SNRIs
clomipramine
buspirine, clonazepam, lithium, neuroleptics

36. Medications FOR OCD
SSRIs on PBS for OCD:
fluoxetine (this is commonly prescribed but in my experience, it doesn’t seem to work well for the OCD of TS)
fluvoxamine (may work)
paroxetine (may work)
sertraline (in my experience, it is effective more often than other SSRI’s for the OCD of TS)
citalopram (in my experience, it is probably the second most effective SSRI for the OCD of TS – but not on PBS for OCD)

37. more anecdotal tips: oppositional / explosive behaviour
seems to improve with SSRIs

38. more anecdotal tips: ADHD + ODD
sertraline plus methylphenidate

39. more anecdotal tips: consider SSRIs (sertraline)
“distal tics” not responding to other Rx
compulsions
obsessions
anxiety
ODD / explosiveness
start low, go slow, build to high doses
they do not take 6 weeks to start working – they often start to work within a few days !
if effective, prob treat for 1-2 years before trial off

40. TS- SUMMARY
common
presents in many ways
most people with TS only require explanation and support (no meds)
a small group have a complex interaction of problems, requiring an individualized, multimodal therapy program
some benefit from sequential polytherapy
increased services are greatly needed !!

41. Ideal service delivery model
Multidisciplinary research clinic