Tourette Syndrome
Child Psychopathology Fall 2005
Susan Bongiolatti, M.S.
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
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
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”
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
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
Phonic Tics
• “Phonic” vs. “Vocal”
• Simple phonic tics
– Single, meaningless sound or noise
• Complex phonic tics
– Linguistically meaningful utterances and
verbalizations
Motor tics
Simple
Complex
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
Tics: Other characteristics
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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
DSM-IV-TR Tic Disorders
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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
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
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
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)
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
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
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
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
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, medicationinduced insult, or head trauma
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
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
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
Comorbidity
• Approx 90% of patients have comorbid
condition
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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
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
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”
Course with Comorbidities
Jancovic, 2001
Etiology of TS
• Precise etiology unknown
• May be inherited in ~80% of cases
• Support for developmental disorder of
synaptic neurotransmission involving
cortical-subcortical circuitry
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
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
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Low birth weight
Nonspecific maternal stress
Maternal use of alcohol, cigarettes
Obstetric complications
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
PANDAS
• Pediatric Autoimmune Neuropsychiatric
Disorders Associated with Streptococcal
Infections
• Immunological trigger for tics and obsessivecompulsive 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
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
Management and Treatment
• Multi-component management approach
recommended
– Education for patient and others
– Behavioral approaches
– Medication
– Academic accommodations
– Psychosocial and psychological supports
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
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
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
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
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
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
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
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
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.
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)