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Update on TOURETTE SYNDROME
Paediatric Society of Queensland ASM 2012
Dr Jim PelekanosPaediatric Neurologist
RBWHUQCCR
Movement disorders chapter in any neurology book:
- Bradykinesias ...- Hyperkinetic movement disorders:
Athetosis Ballismus Chorea Dystonia Myoclonus Tics Tremor
TICS- definition
involuntary or semivoluntary contractions of functionally related groups of muscles resulting in: sudden brief intermittent nonrhythmic repetitive
movements or sounds
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
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
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)
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
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
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”
TOURETTE SYNDROME (TS)
Described in 1885 by Georges Gilles de la Tourette (1857-1904) defined by:
1) multifocal motor tics 2) one or more vocal tics 3) present for more than one year4) age of onset prior to 21 years
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
Prevalence of Tourette Syndrome meta-analysis of 13 studies in
children: 0.77% of children (95% confidence interval, 0.39 - 1.51%)
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
TS – associated features / comorbidities
ADHD ( ? 50% - 70% of boys with TS) obsessive-compulsive behaviours / disorder
(OCD- ?30 - 50%) 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)
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
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
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
What are TICS ?
Theory:
"some tics are inappropriately expressed (normally inhibited) fragments of primitive motor and vocal programs ….."
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
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
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 ExperienceClinical Pediatrics Sept 1996:467-469
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
www.tourette.org,au) explain likely long term outcome – probable
improvement
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.
www.tourette.org.au
TSAA
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)
first visit
never start medications
explanation
diary
review in 4 – 8 weeks
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examples of some real patients on a hypothetical “profile” scale
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
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
Medications used in Tic Disorders Singer 2011
Tier 1 Tier 2 Tier 3
Drug Category Drug Category Drug Category
Clonidine B Pimozide ADopamine agonists
Guanfacine B Fluphenazine B Pergolide (B)
Baclofen C Risperidone A Pramipexole ?
Topiramate B Aripiprazole C Tetrabenazine C
Levetiracetam C Olanzapine C Delta-9-THC C
Clonazepam C Haloperidol A Donepezil C
Ziprasidone BBotulinum toxin
B
Quetiapine CSulpiride 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.
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
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
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. 2009 Sep;48(9):884-93
Medications for ADHD in TS
methylphenidate + clonidine
may be better than either alone
may treat different aspects of the disorder
Neurology 2002;58:527-536
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
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
Medications FOR OCD in TS- there are no major studies of OCD Rx in TS
SSRIs
SNRIs clomipramine buspirine, clonazepam, lithium,
neuroleptics
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)
more anecdotal tips:
oppositional / explosive behaviour
seems to improve with SSRIs
more anecdotal tips:
ADHD + ODD
sertralineplus
methylphenidate
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
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 !!
Ideal service delivery model
Multidisciplinary research clinic
www.tourette.org.au
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