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
Simple Complex
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
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 doctors visits
May persist during all sleep stages, but not
common during sleep
DSM-IV-TR Tic Disorders
Tourette Syndrome (Tourettes 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, medication-
induced 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
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 persons
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
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 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
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)