Tourette’s Disorder
DSM-V Categorization:
Neurodevelopmental motor Disorder: Tic Disorders
 Characterized with an onset in the developmental
period, usually early in development
 Symptoms of excess as well as deficits/ milestone delays
 Deficits produce impairments including academic,
personal, occupational and social functioning
 Frequent co-occurrence with other disorders
DSM-V Tic Disorders
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Based on the presence of motor and or vocal tics
Duration of symptoms
Age at onset
Absence of any other cause (substance use or
medical condition)
• Hierarchical rank:
Tourette’s disorder
Persistent motor or vocal tic disorder
Provisional tic disorder
Specified and unspecified tic disorder
DSM-V Tics
Tic: sudden, rapid, recurrent, nonrhythmic motor
movement or vocalization (DSM-V)
Motor Tic
Simple motor tics
Complex motor tics
Video
Vocal Tic
Simple vocal tics
Complex vocal tics
Coprolalia- obscene
inappropriate words or
phrases
Echolalia- repeating
others’ words
Palilalia- repeating own
words
DSM-V TS Development/ Course
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4-6 average onset
Severity around 10-12 then a decline in adolescence (small
percentage worsen in adulthood)
Across lifespan tic symptoms manifest/ wax and wane
idea
Muscle groups and vocalizations change over time
With age comes a premonitory desire [somatic sensation]
followed by a feeling of relief after expressing the tic
Particular pattern of tics, desire to express “just right”
Vulnerable to co-occurring conditions during “age of risk”
and then followed by decline
Meeting DSM-V Diagnostic Criteria
for TS
• A. Both multiple motor and one or more vocal
tics have been present at some time during the
illness, although not necessarily concurrently.
• B. The tics may wax and wane in frequency but
have persisted for more than 1 year since first tic
onset.
• C. Onset is before age 18 years.
• D. The disturbance is not attributable to the
physiological effects of a substance or another
medical condition.
DSM-V Prevalence/Cultural influences
• Childhood onset is common, but tics are usually
transient
• 3 to 8 per 1,000 school aged children
• Males > females (2:1 to 4:1), no gender
differences in kinds of tics
• African Americans and Hispanic Americans <
identified cases
• Race, ethnicity, and culture: no varying clinical
characteristics, but instead may influence
perception and management of disorder (choice of
treatment)
CHARACTERISTICS OF TICS
• Mild, moderate or severe- dependent on: frequency,
forcefulness, complexity and daily life impairment
• Frequency does not equal impairment: eye blinking 2030 per minute vs. loud barking several times an hour
• Most individuals experience oscillations in severity
over weeks and months (waxing and waning)
• Involuntary but some report “semi-voluntary” based on
suppression ability
• Premonitory urges followed by satisfaction after tic is
completed
• Individuals may disguise tics as purposeful: arm jerk –
comb hair
DSM-V Risk and Prognostic Factors
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Temperamental:
Tics are worsened by anxious, excited and exhausted emotions
Tics are better when individual experiences calmness and is
focused
Environmental:
Observation of a gesture/sound may result in individual with tic
disorder to imitate (can be perceived incorrectly/purposeful)
Hinders interaction with authority figures
Genetic/Physiological:
Expression and severity influenced
Risk alleles and rare genetic variants have been identified
Obstetrical complications/older paternal age/maternal smoking
during pregnancy and lower birth weight associated with tic
severity
DSM-V Functional Consequences
• Many individuals do not experience impairment with
their tics and may even be unaware of their tics
• More severe cases usually result in daily living
impairments (not definitive, some severe cases may
function just fine)
• Co-occurring conditions can lead to greater impairment
• Less often tics lead to social isolation, interpersonal
conflict, peer victimization, inability to work/attend
school, poor quality of life
• Rare complications include: physical injury, orthopedic
injury and neurological injury
COMORBIDITY
• In addition to tics, many experience co-occurring
psychiatric and or neuropsychological difficulties
• Most frequent: ADHD (50%), related learning
disorders, OCD (20-60%), anxiety disorders,
affective disorders, sensory integration
dysfunction and explosive aggressive behaviors
• Not necessarily etiological, many influences
possible
Genetic/ Physiological
Mechanisms
Comorbidity:
ADHD/OCD
Age
Tic severity
<18 onset of
motor/vocal tics
Environment
Temperament
Secondary
Features:
Neurological,
orthopedic,
physical injury
Functional
impairment
Problems with
teachers, parents
and law
enforcement
DO WE HAVE
EVIDENCE IN
RESEARCH?
PERSPECTIVE IS KEY
• Some researchers view TS as a discrete single
entity with accompanying syndromes
• Others view TS with common causes and
varying manifestations more like a spectrum
disorder
• When reviewing research regarding TS critical
to understand population requirements for TS
groups
ADHD
• More than 50% with TS who come to the
attention of physician – ADHD
• 30% with TS experience school
difficulties/learning disabilities
• Special care to be taken in medication-stimulants
may worsen behaviors/tics
• Relationship between ADHD/TS less understood
(O’Rourke et al., 2011)
• Suggested overlapping neurobiology:
ADHD/OCD/TS (O’Rourke et al., 2011)
OCD/anxiety
OCD:
• Many with TS may also have obsessive-compulsive symptoms
(OCS)
• Disruptive to life and to tics
• Need to “even things up”, “feel right”, touching forbidden objects
(hot frying pan)
• Complex tic or compulsion
• Special care to be taken in medication: antipsychotic vs. SSRI
Anxiety:
• Unknown if genetically related to TS
• Avoidance behavior common: reluctance to go to school or other
activities (sleepovers)
TEMPERAMENTAL INFLUENCES
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Individuals with TS- higher levels of aggression, hostility and personality
disorder (Robertson et al., 1997)
Tics have been “associated” with increased neuroticism/ additional OCD
diagnosis also showed low extraversion (Cath et al., 2001)
Comorbid ADHD “associated” with emotional instability
Severe OCD symptoms-emotional hypercontrol (Balottin et al., 2009)
Schizotypical personality traits-more common in TS population (Cavanna,
Robertonson, & Critchley, 2007; Comings & Comings, 1987)
TS has been “associated” with significant differences in QofL aspects
(home, peer and family interactions) (Eddy, Rizzo, Gulisano, Agodi,
Parchitta, Cali, et al., 2011)
88% of individuals with TS report tics having an effect on their life-potential
to influence perceptions of abilities and feelings about themselves (Eddy,
Rickard, Critchley & Cavanna)
EXPLOSIVE/AGGRESSIVE
BEHAIVOR
• 25-70% of patients with TS report outbursts and anger
issues (factor analysis accounting for 62.5% of
variance) (Budman, Rockmore, Stokes, & Sossin,
2003)
• Kicking, screaming, threatening others, biting, hitting,
fits of anger/rage, punching holes in walls
• Individuals typically afraid of their own behavior
• “Run it’s course” nature
• Thin barrier between outward expression and
impulses/thoughts
• Causes problems with teachers, families, and patients
themselves
Personality Influenced
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25 adult outpatients, TS clinic, all fulfilled DSM-IV-TR criteria for TS
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Comprehensive clinical interviews- National Hospital Interview Schedule for TS
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Participants completed: Ten Item Personality Index, Beck Depression Inventory, Positive and
Negative Affect Schedule, & Yale Global Tic Severity Scale
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Group scores were compared: TS patients vs. controls, between-group analysis subgroup of ‘pure
TS’ to controls
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Results: No significant differences on: BDI, PANAS positive or negative subscales, or the TIPI
agreeableness scores
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Significant difference between groups for four other TIPI scores (extraversion: MWU = 170.5, p =
0.005; conscientiousness: MWU = 204, p = 0.033; emotional stability: MWU = 130.5, p<0.001;
openness: MWU = 196.5, p = 0.022)
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Correlations: significance for emotional stability scores negatively related to BDI (SR= -0.501, p =
0.011, PANAS negative subscale scores (SR = -0.482, p = 0.015) and positively related to PANAS
positive subscale scores (Sr = 0.682, p<0.001). TIPI emotional stability negatively related to BDI
scores (Sr = -0.891, p<0.001) and positively related to PANAS positive subscale scores (Sr = 0.619,
p = 0.014)
Behavioral Influences
• Self-Injurious Behaviors (deliberate/repetitive infliction
of self-harm)
• Skin/scab picking, hair pulling, pinching oneself, selfbiting
• Study focused on the relationship between SIB and other
behavioral features that commonly co-occur with TS
(Mathews et al., 2004) ~300 subjects with TS
participating in three genetic studies
• Analyzed SIB, obsessions, compulsions, tic severity,
attention deficit hyperactivity disorder related
impulsivity, risk taking behaviors, and rages
Stress Related INFLUENCES
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Life events are commonly used for the purpose of measuring stress
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Stressful life events and TS relationship is unclear
Tic expression may be involved (Meidinger et al., 2005; Woods &
Himle, 2004)
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Impact of stressful life events and tic severity is best predicted by
parental report (Lin et al., 2007)
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Comorbid OCD: more stressful life events than controls (Findley et
al., 2003)
ENVIRONMENTAL INFLUENCES
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Literature review
Antecedent vs. Consequence Factors
Fatigue and social activities- exacerbate tics
Concentration, studying, relaxation- attenuate tics
Limited to applying these findings to population or even other
clinical samples because of self-report issues and reported in
aggregate form
Negative consequences reported to have negative or neutral
outcomes
Positive consequences resulting in positive outcomes
Consequences were parent reported
Generalizability unclear, overall however, stressful frustrating or
anxiety provoking events reported to exacerbate tics
ENVIRONMENTAL
INFLUENCES
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‘tic-talk’ condition found to increase frequency of vocal but
not motor tics (Woods, Watson, Wolfe, Twohig, & Friman,
2001)
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Tics found to increase in presence of certain people (teacher,
custodian, father, mother, examiner) (Malatesta, 1990)
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Videotaping of children watching emotional video- most
severe tics at specific emotional states, least severe in
anger/happiness
LIMITATIONS IN
UNDERSTANDING
CONTEXTUFAL FACTORS
• The studies reviewed examined the relationship in
experimental settings
• Isolating certain variables would be most helpful
in applying these findings to treatment
interventions
• Little information about the premonitory ‘urge’ in
the development of the disorders
• Most interesting but still unknown: Is it tics
themselves that are impacted by contextual
factors or is it the suppression/inhibitory
behaviors that are being changed?
GENETIC INFLUENCES
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Previous studies have sought to identify several chromosomal
regions associated with the susceptibility loci for TS
TS and Chronic motor tics among first-degree relatives 2.0%
and 12.0% (respectively)
Morbid risk for TS among relatives: 9.8%-15%
When replicated, results typically do not hold
Difficult to extract out comorbid ADHD in findings, unable to
conclude TS specific findings (< 10% of patients account for
‘pure’ TS population (Ozonoff et al., 1998; Mahone et al.,
2002)
Neurological influences
• Suggested involvement of the frontal cortex
connections to subcortical regions including basal
ganglia through the frontal cortico-striatal-thalamocortico circuits (Mink, 2001; Singer, 2005; Albin and
Mink, 2006)
• Suggested abnormality in brain systems that effect
neural transmission from limbic to motor systems
deficit in regions involved with motivation and action
(Jeffries et al., 2002)
• Involvement with frontal cortex including response
inhibition and selective attention (Bornstein et al.,
1991; Johannes et al., 2001; Channon et al., 2003)
GENETIC/ PHYSIOLOGICAL
INFLUENCES
• rs-fcMRI used to explore the possible disruption of
brain systems in patients with TS (Fair et al., 2007a,
2008; Fransson et al., 2007)
• Defects in neural circuits from the cerebral cortex
through the structures constituting the basal ganglia
and back to the cerebrum (Olson, 2004).
• Cingulo-opercular network: maintenance of tasks sets
across events within task period
• Fronto-parietal network: rapidly adaptive online
control
• TD: strength of correlation coefficients ‘between’
differences in control networks seem to be stronger in
children and decline with age (Fair et al., 2007)
• Consideration of TS behaviors lead to theory of 3
GENTIC/ PHYSIOLOGICAL
INFLUENCES
• Largest off-curve differences found mostly in
fronto-parietal network (adaptive control-/
controlling settings from one event to the next)
• Immaturity in connections may be related to
adaptive control network being more
vulnerable to distraction while cinguloopercular network (set-maintenance) stable
and resistant
GENTIC/ PHYSIOLOGICAL
INFLUENCES
• Results for TS showed underdevelopment in
10-15 year olds, instead reflecting 7-9 year old
• Groups of adolescents TD and with TS: 34
functional connections (p < 0.05) but after
Benjamini and Hochberg False Discovery Rate
correction, no emphasis produced
• Connections examined using rs-fcMRI show
weaker functional connections
WHAT DO These DIFFERENCES
MEAN?
• As mentioned, fronto-parietal network is
associated with supporting online task-control
while allowing for adaptive change from one
event to the next (disruption here might make
sense for the increase in severity in different
environments that produce a change in emotion
(going from calm to excitement, > frequency and
severity of tics)
• The fronto-parietal network has also been
hypothesized as being more susceptible to
distraction which would make transient control
impaired
• Adolescents with TS (10-15) may have less
Genetic influences
• 6 family studies have previously looked into
familial related conditions in TS (5- US &
Europe, 1-Japan)
• Interviews from first degree family members
• Found morbid risk of 9.8-15% among relatives
• 15-20% for other tics
• Age correct rates among first degree relatives
2.0-12%
• More recently, researchers suggest inheritance
Problems with Genetic
association/linkage studies
ASSOCIATION:
• Case control or family based
• Limited by many irrelevant markers appearing
to be disease associated
• High rates of false positives
• Population stratification- cases and controls
differ not only with phenotype of interests but
overall population genetic ancestry
• Difficult to find appropriate control group
Problems with Genetic
association/linkage studies
• LINKAGE (Pauls, 2003):
• Members of the Tourette Syndrome Association
International Consortium on Genetics (TSAICG)
conducted all initial linkage studies
• 31 multigenerational families were studied
• > 800 genetic marker loci were screened
• No strong positive evidence found for linkage
with TS
• Re-conducted by TSAICG in sib-pair study of 76
families
• 64 had only two affected siblings
• 10 had three effected siblings
Review
• Temperament, environment, &
genetics/physiology in relation to TS
commonly produced inconclusive research
findings
• Tic severity may to be influenced by
awareness, context, age, & comorbidity
• Immature connectivity throughout
neurological regions have been measured and
may influence the inability to inhibit unwanted
behaviors
• Research findings of TS struggle to be
Neuroanatomical/
Genetic
Substrates
Comorbidity
ADHD/OCD
Age
Awareness of
Behaviors
Motor Tics/ (simple or
complex)
Vocal Tics
Socialization/
Peer- acceptance/
Quality of
relationships
Academic/
Behavioral
Functioning
Stress/Anxiety/
Fatigue/Inattentio
n
Inhibitory deficits
Tic Severity
Cunningham TS
Model 2013
Self-Injury
Inattentiveness
Aggression
Functional Impairment
Deficits in relationships
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