tourette syndrome: the whole tic and kaboodle
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Tourette Syndrome:The Whole Tic and Kaboodle
Tourette Syndrome Association, Inc. & CDC
Samuel H. Zinner, M.D.Associate Professor of Pediatrics
University of Washington, Seattle
depts.washington.edu/dbpeds
December 15, 2012
Case 1
• 10-year-old boy
• “Not himself” past year
• Rubbing eyes and blinking
• Wiping/blowing nose until bleeds
• Allergy medications not helping
Case 3
• 8-year-old boy• Deteriorating school performance• Disruptive in classroom• Recruits kids in noise-making
antics• Moves about classroom
Case 4
• 7-year-old boy with possible otitis media
• Severe lip chapping
• Licking lips
Overview
• Signs and symptoms
• Associated problems
• Management
Take Home Points:
• TS not rare
• Tics usually mild
• Tics usually 1 of many related problems
• Address main problems
Historical timeline of Tourette syndrome events
Charcot&
Tourette
Georges Albert Edouard BrutusGilles de la Tourette
(1857-1904)
Georges Albert Edouard BrutusGilles de la Tourette
(1857-1904)
Childhood onset
Heritable
Coprolalila
Echolalia
Wax & Wane
Motor & Vocal
Premonitory sensation
Eiffel Tower erected in Paris1889
Tic Disorders: Historical context
• Psychological
• Neurological
• Neuropsychiatric–Neurology
–Genetics & Environment
–Behavioral & Functional
Tic Disorders: Characteristics
• Tic Definition
– motor or phonic
– involuntary (unvoluntary?)
– sudden and rapid
– recurrent
– non-rhythmic and stereotyped
Tics: Characteristics
Simple Complex
Motor
Phonic
Tics: Characteristics
Simple Complex
Motor
•“Meaningless”/isolated •Facial and neck•Abdomen•Extremities
Phonic
Tics: Characteristics
Simple Complex
Motor
•“Meaningless”/isolated •Facial and neck•Abdomen•Extremities
•“Purposeful”•Gestures•Dystonic postures•Self-abusive or
vulgar
Phonic
Tics: Characteristics
Simple Complex
Motor
•“Meaningless”/isolated •Facial and neck•Abdomen•Extremities
•“Purposeful”•Gestures•Dystonic postures•Self-abusive or
vulgar
Phonic
•“Meaningless”•“Allergy”-like•Grunting•Tongue-clicking•Animal noises
Tics: Characteristics
Simple Complex
Motor
•“Meaningless”/isolated •Facial and neck•Abdomen•Extremities
•“Purposeful”•Gestures•Dystonic postures•Self-abusive or
vulgar
Phonic
•“Meaningless”•“Allergy”-like•Grunting•Tongue-clicking•Animal noises
•“Linguistic”•Syllables•Words, obscenities•Imitative (“echoic”)•Speech atypicalities
. . . . . . . W A X E S
W A N E S . . . . . . .
Tourette’s Disorder
• DSM-IV-TRTM
Criteria
–Multiple motor plus 1 or more vocal
–Many times/day and at least 1 year
–Onset before 18 years
–Not due to substance or medical condition
Chronic Tic Disorder (M or V)
• DSM-IV-TRTM
Criteria
–Multiple (or single) motor or vocal
–Many times/day and at least 1 year
–Onset before 18 years
–Not due to substance or medical condition
Transient Tic Disorder
• DSM-IV-TRTM
Criteria
–Multiple (&/or single) M. &/or V.
–Many times/day (4 weeks – 1 year)
–Onset before 18 years
–Not due to substance or medical condition
Tourette’s Disorder
• DSM-V
–Duration criterion for chronic tics• Tics persist for > 1 yr since first tic onset
• Changes from DSM-IV-TR. Removed:–More than 9/12 months of any year–Tic-free period of no more than 3 months–Transient Tic Disorder
–Provisional tic disorder
Tourette’s Disorder
• DSM-V
–Duration criterion for chronic tics• Tics persist for > 1 yr since first tic onset
• Changes from DSM-IV-TR. Removed:–More than 9/12 months of any year–Tic-free period of no more than 3 months–Transient Tic Disorder
–Provisional tic disorder
PREMONITORY URGE
Tics: Characteristics
Anatomic evolution of tics
top → bottom
midline → peripheral
simple → complex
Anatomic evolution of tics
Anatomic evolution of tics
Anatomic evolution of tics
Anatomic evolution of tics
Anatomic evolution of tics
Anatomic evolution of tics
Anatomic evolution of tics
Epidemiology
• Prevalence – 1% males (or more)
– Male > Female (3-to-10 times)
“If the brain were simple enough that we could
understand it, we’d be so simple that we couldn’t”
Paul Greengard, Ph.D.
Nobel Prize in Physiology or Medicine 2000
Tics: Pathophysiology
• Cortical & Subcortical network– Sensory
– Affective
– Motor
Tic Disorders: Characteristics
• Premonitory urge
• Tics can usually be suppressed
Etiology
URGE → TIC → RELIEF
Tics:Tics: PathophysiologyPathophysiology
• Dis-inhibition
– “sensori-motor gating”
– “filtering”
• Motor programs
– “fixed action patterns”
– “muscle memory”
Brain
Regions
in
TS
With permission, NIMH
Striatum
Thalamus
GP / SN
Basal Ganglia
cortex
brainstem
Striatum
PANDAScontroversial
Pediatric
Autoimmune
Neuropsychiatric
Disorders
Associated with
Streptococcal infections
PANDAS5 identifying criteria
developed for research by clinical observation
1. Dramatic emergence or exacerbation of OCD and/or tics
2. Pre-pubertal symptom onset
3. Other neurological signs
4. Association with GABHS
5. Episodic or sawtooth symptom course
Genetics
• TS is genetic in origin• TS is inherited
– family, twin and adoption studies
• Non-genetic factors also present– Gestational exposure?– Perinatal?– Hormonal?
Genetics
• Major genes are involved– autosomal dominant w/incomplete penetrance?– polygenic?– additive?
• Genomic regions suspected– Seeking susceptibility genes in the regions
• Epigenetic factors
Differential Diagnosis of repetitive behaviors
Neurological Psychiatric
Sydenham chorea Compulsions
Myoclonus Stereotypies
Tremor Perseverations
Dystonia Self-injurious behavior
Athetosis Addictive behaviors
Spasms Habits
Dyskinesias Mannerisms
Differential Diagnosis of repetitive thoughts
PsychiatricObsessions
Ruminations
Delusions
Perseverative thoughts
Cravings
Over-valued ideas
Flash-backs
Identification
• Clinical aspects of tics
• Comorbid conditions
• Emotion and behavior
Identification – comorbid conditions
KEY POINT!
Always assess for non-tic comorbidity
* 90% occurrence if tics mild
* 100% occurrence if tics severe
*in clinically-referred samples
Assessment:co-morbid conditions
• ADHD
• Obsessions/Compulsions
• Learning interferences
• Behavioral disorders
• Developmental disorders
• Mood disorders
• Anxiety
• Social difficulties (including PDDs)
David Sedaris
a plague of tics
from “Naked”Little, Brown and Company, 1997
TOURETTE SYNDROME IN HISTORY
Emperor Claudius
(10 BC - AD 54)
TOURETTE SYNDROME IN HISTORY
Peter the Great
(1672 – 1725)
TOURETTE SYNDROME IN HISTORY
Samuel Johnson
(1709 – 1784)
TOURETTE SYNDROME IN HISTORY
Wolfgang Amadeus Mozart
(1756-1791)
Clinical Course
• < 7 ADHD
• 7 Simple motor tic (head)
• 8 Vocal tic
• 11 OCS + peak tic severity
• > 11 tics ↓ (but lifelong in 50-90%)
Time course of symptom dev’t
Autism, Abuse/Neglect
ADHD, Anxiety
Depression, ODD
Bipolar, Conduct
PersonalityDisorder, Conduct Disorder
Adapted from presentation by John Walkup, MD
Clinical Assessment: complex presentations
• Tics plus:– separation (or other) anxiety
– autism
– disruptive behavior disorders
– depression (or bipolar)
– substance abuse
– personality disorders
Quality of Life?“Tourette differs from other
neuropsychiatric disorders in one simple way: It is largely the disease of the onlooker. When I tic, I am usually
not the problem. You are.”
Peter Hollenbeck, Ph.D.
(a neuroscientist with TS)
-Cerebrum (2003)
Diagnostic Pitfalls 101
• Subject or clinician unaware of tics
• Waxing and waning nature of tics
• Tics are suppressible
Diagnostic Pitfalls 102
• T.S. is not rare
• T.S. is usually not catastrophic
• Few have coprolalia
• You may not see the tics
Management
• General Guidelines
–Education
–Monitoring
–Containment
Management
• Containment - overcome assumptions– “He can’t control it”
– “I can’t set limits on him”
– “He has a tough life. I want it easier”
– “He needs special accommodations”
– “Medication is the answer”
– “It’s all related to the Tourette”Adapted from a presentation by John Walkup, MD
Management
• Anger: An easily conditioned behavior–Effective in interactions–Associations:
• Mood & Anxiety• Cognitive / Brain
–CultureAdapted from a presentation by John Walkup, MD
Management
• General Guidelines - Education–Clarify neurological basis–Reassurance and support–Emphasize strengths–Whole child–Whole family
Management
Outcome is associated with:
Severity of co-occurring conditions & self-control
+
The courage to overcome adversity
Adapted from presentation by John Walkup, MD
Management
• Is further treatment necessary:
–For tics?
–For comorbid conditions?
Caution: There is often > 1 condition
Management
• Lumpers vs. Splitters– Tic suppression
– Co-occurring conditions
– Children: Raising kids w/ TS
– Adults: Building on strengths
Adapted from presentation by John Walkup, MD
Management
• Splitters– Make problem list
– Rank & treat by impairment
– Treat each problem/diagnosis
– Consider consult
– Goal: “Fix” other diagnosesAdapted from presentation by John Walkup, MD
Management
• Splitter– OCD: CBT & / or Rx
– Behavior: Parent training
– Tics: Education, Advocacy, Monitor,
Consider Rx (esp. α2 agonist)
Adapted from presentation by John Walkup, MD
Management
• Lumpers
problem problem
problem problem
problem problem
problem problem
Adapted from presentation by John Walkup, MD
Tourette
Management
• Perspectives:
– The child
– The parent
– The school
– You
Managementparent perspective
• Most Important– Episodic rage– Attention deficit– Learning difficulties
• Least Important– Motor tics– Vocal tics
FOCUS ON TARGET
SYMPTOMS
Types of ReinforcementAdapted from presentation by John Walkup, MD
+ -
Internal GratificationRelieves
distress
External
Attention
&
Support
Avoidance
Management: tics
• Education & Accommodation
• Medications
• Experimental– Behavioral
– Integrative
– Surgical
Management - tics
• Non-pharmacological
–Dynamic psychotherapy
•Supportive
•Cognitive-Behavioral
•Parenting education
Management – tics:environment
• Things that worsen tics– Excitement & stress– Fatigue– Attending to tics / Accepting of tics
• Things that improve tics– Calm, focused activities– Deep relaxation– Inhibiting environments
• Adults’ experience w/behavior strategies
Adapted from presentation by John Walkup, MD
Management - tics
• Non-pharmacological– Behavioral approaches
• CBIT (Comprehensive Behavioral Intervention for Tics)
– HRT (Habit Reversal Therapy)» Awareness Training» Competing Response» Relaxation» Social Support
– FA (Functional Analysis)» Social situations that influence behaviors
Management - tics
• Non-pharmacological–Behavioral approaches
• CBIT–Behavioral
Antecedent - Behavior - Consequence
–Functional
+ & - reinforcing functions
Change in Advice Adapted from presentation by John Walkup, MD
OLD (intuitive) NEW (counterintuitive)
Ignore tics Become more aware
Can’t be controlled Learn to manage
Don’t punish Reward successful mgt
Behavior tx won’t work Use beh. strategies
Don’t try to suppress Beh. tx. doesn’t ↑ tics
Suppression ↑ tics Urges will fade away
Suppression ↑ urges Beh. tx. doesn’t create new tics
Management - tics
• Teacher in-service on T.S.• Classroom education on T.S.• Teacher as role model• Tic breaks/sanctuaries• Testing accommodations• Opportunities for movement• Scribes• Tic suppression (behavioral and/or medical)
Management:“co-morbid” conditions
– Family dysfunction– OCD & other anxiety disorders– ADHD – Learning difficulties– Behavioral Disorders– Sleep disturbances– Other self-injurious behaviors
Management – bullying
• Stop Bullying Now - HRSA
www.stopbullyingnow.hrsa.gov
Pharmacotherapy
KEY POINTS!•Do not assume medication is necessary
•Address comorbid condition(s)
•Complete tic remission is rare
•Stimulants are generally safe
Pretty much everything known to humankind tried Pretty much everything known to humankind tried for ticsfor tics
• Alkaloidnicotine reserpine
• Alpha adrenergic agonistclonidine lofexidineguanfacine
• Anti-androgenfinasteride flutamide
• Anti-cholinesterasedonepezil
• Anti-convulsantlevetiracetam topiramate
• Anti-depressant (tricyclic)desipramine
• Anti-hypertensive (misc.)mecamylamine
• Anti-Parkinsonpergolide
• Anti-psychotic (other)tetrabenazine
• Atypical neurolepticaripiprazole risperidoneolanzapine ziprasidonequetiapine
• Atypical neuroleptic (N/A in US & Canada)sulpiride tiapride
• Benzodiazepineclonazepam
• Cannabinoid delta-9-tetrahydrocannibinol (THC)
• Dopamine agonistropinirole
• Dopamine antagonistmetoclopramide
• MAO inhibitorselegiline
• Muscle relaxantbaclofen
• Neurotoxinbotulinum toxin A
• Selective NE reuptake inhibitoratomoxetine
• Typical neurolepticfluphenazine pimozidehaloperidol
Pharmacotherapy for tics
Mild ticsNo medication treatment
Pharmacotherapy for tics
Mild ticsMonotherapy
– α-adrenergic agonists
– Clonidine (shorter-acting)
– Guanfacine (longer-acting)
“Small”
Pharmacotherapy for tics
Mild tics w/ or w/o comorbid ADHDMonotherapy
– α-adrenergic agonists
– Stimulants
– Atomoxetine
Pharmacotherapy for tics
•Moderate tics– α-adrenergic agonists and/or:
– Atypical neuroleptics
• Severe tics– Atypical neuroleptics
– Typical neuroleptics
Pharmacotherapy for tics
•Category A
–Typical Neuroleptics•Haloperidol (Haldol)•Pimozide
–Atypical Neuroleptics•Risperidone
Pharmacotherapy for tics•Category B
–Typical Neuroleptics•Fluphenazine (Prolixin)
–Atypical Neuroleptics•Aripiprazole (Abilify)
–Other•Clonidine (Catapres)•Guanfacine (Tenex)•Botulinum toxin (Botox)
Pharmacotherapy for tics•Category C
–Atypical Neuroleptics•Olanzapine (Zyprexa) •Quetiapine (Seroquel)•Ziprasidone (Geodon)
–Other•Baclofen•Nicotine patch or chewing gum
Pharmacotherapy for tics
•Other options that may be effective–Benzodiazepines
•Clonazepam (Klonopin)–Anticonvulsants
•Topiramate (Topamax) growing interest–Tricyclic antidepressants
Newer Antipsychotics
Lots of aripiprazole studiesFew olanzapine, ziprasidone studiesExpect lots of tetrabenazine studiesEcopipam (First orphan drug)
Pharmacotherapy for tics:European experts ratings
0
10
20
30
40
50
60
Drug
Risperidone
Clonidine
Aripiprazole
Pimozide
Sulpiride
Tiapride
Haloperidol
Tetrabenazine
Ziprasidone
Quetiapine
THC
Desipramine
BoTox
Thioridzine
Guanfacine
Oxcarbazepine
Atomoxetine
Roessner et al. Eur Child Adolesc Psychiatry, 2011
Pharmacotherapy for tics:American opinions
1st tier 2nd tier 3rd tier
Clonidine
Guanfacine
Baclofen
Topiramate
Levetiracetam
Clonazepam
Pimozide
Fluphenazine
Risperidone
Aripiprazole
Olanzepine
Haloperidol
Ziprasidone
Quetiapine
Sulpiride
Tiapride
Dopamine agonists
Tetrabenazine
BoTox
Singer et al. In Movement Disorders in Children, 2010
T I C S
OCD more impairing than tics
ADHDmore impairing than tics
Tics cause interference, impairment or pain
Treat OCD, then reassess tic severity
Treat ADHD (stimulants may be OK), then reassess tic severity
Clonidine or guanfacine Effective
Intolerable side effects or inadeq.
benefit
Monitor
2nd-lineNon-DA receptor blocking
meds
Effective
3rd-lineDA
receptor blocking
meds
Monitor
Monitor closely for weight ↑,
extra-pyramidal
side effects,
etc.
Treatment Algorithm
Gilbert. J Child Neurology 2006
Pharmacotherapy for Comorbid Conditions
KEY POINT!
Target the most troubling symptoms
TreatmentIntegrative Medicine
• “Complementary”
• “Alternative”
TreatmentIntegrative Medicine
• Why the interest?–Medication problems–Autonomy–Readily available information and “information”–Personal values–Liabilities in conventional medicine
Integrative MedicineTourette syndrome
Fish Oil / Omega 3• Double-blind trial 2012
• 33 youth O3FA v. PBO (20 weeks)• No difference on tics• Improvement on tic-impairment• No change OC, anxiety, depression
A common sense guide to complementary/alternative medicine
Safe?
YES NO
YES Recommend Tolerate
NOMonitor closely or discourage
Discourage
Effective?
Source: Cohen MH & Eisenberg DM, Ann Intern Med (2002)
Pharmacotherapy - Experimental
• Naloxone• Anti-androgen• Cannabinoids• N-Acetylcysteine• Other agents now less experimental
– Botulinum toxin– Nicotine patch
Surgical Treatment - Experimental
• Deep Brain Stimulation (DBT)
Deep
Brain
Stimulation
Printed with permission, Medtronic
DBS leadExtension
adjustsettings
Neuro-stimulator
Surgical Treatment - Experimental
• DBS Inclusion Criteria– 25 years old– Severe tics– Failed Rx– Failed behavioral tx– Stable co-morbidities– Active psychological interventions
Advocacy and Legal Rights
Advocacy and Legal Rights
• Tourette Syndrome Association
• Protection and Advocacy Office
• Local Bar Association
• IDEA (now IDEIA)
• Section 504
Case 1
• 10-year-old boy
• Mother states “not himself” past year
• Rubbing eyes and blinking
• Wiping/blowing nose until nose bleeds
• Allergy medications not helping
Case 3
• 8-year-old boy
• Deteriorating in school performance
• Disruptive in the classroom
• Recruits kids in noise-making antics
• Moves about the classroom
Case 4
• 7-year-old boy with possible otitis media
• Severe circumoral chapping
• Licking lips
Take Home Points:Clarifying Common Misconceptions
• TS is not rare
• Tics are usually mild, not catastrophic
• In most people with TS, tics are one of many related complications
• Address main problems, often not tics
For further information, including Rx discussion:
Tourette Syndrome Association, Inc.
www.tsa-usa.org
NEWLY DIAGNOSED Video Webstreamwith Dr. John Walkup
Extensive Resources in Medical Home partnership:
Developmental-Behavioral Pediatrics
Depts.washington.edu/dbpeds
Tourette Syndrome Association, Inc.
www.tsa-usa.org
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