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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
• 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
Vocal Tic
Simple vocal tics
Complex vocal tics
Coprolalia- obscene inappropriate words or phrases
Echolalia- repeating others’ words
Palilalia- repeating own wordsVideo
DSM-V TS Development/ Course
• 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 20-30 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
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
<18 onset of motor/vocal tics
Age
Environment
Temperament
Tic severity
Comorbidity:ADHD/OCD
Secondary Features:
Neurological, orthopedic,
physical injuryFunctional impairment
Problems with teachers, parents
and law enforcement
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
• 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 25 adult outpatients, TS clinic, all fulfilled DSM-IV-TR criteria for TS
Comprehensive clinical interviews- National Hospital Interview Schedule for TS
Participants completed: Ten Item Personality Index, Beck Depression Inventory, Positive and Negative Affect Schedule, & Yale Global Tic Severity Scale
Group scores were compared: TS patients vs. controls, between-group analysis subgroup of ‘pure TS’ to controls
Results: No significant differences on: BDI, PANAS positive or negative subscales, or the TIPI agreeableness scores
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)
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, self-biting• 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
• Life events are commonly used for the purpose of measuring stress
• Stressful life events and TS relationship is unclear• Tic expression may be involved (Meidinger et al., 2005; Woods &
Himle, 2004)
• Impact of stressful life events and tic severity is best predicted by parental report (Lin et al., 2007)
• Comorbid OCD: more stressful life events than controls (Findley et al., 2003)
ENVIRONMENTAL INFLUENCES
• 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
• ‘tic-talk’ condition found to increase frequency of vocal but not motor tics (Woods, Watson, Wolfe, Twohig, & Friman, 2001)
• Tics found to increase in presence of certain people (teacher, custodian, father, mother, examiner) (Malatesta, 1990)
• 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
• 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-thalamo-cortico 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 suggested possibilities (Church
et al., 2009) :
1. Abnormal connectivity within and between cingulo-opercular network
2. Altered connectivity with and within fronto-parietal network
3. More widespread set of differences could affect both networks and relations between them
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 cingulo-opercular 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 functional communication between distant areas of cortex and over communication between closer regions (similar to young children)
• Lack of long range communication could explain inability to supress unwanted behaviors in TS
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 patterns
are more complex than originally thought and are seeking association and linkage studies (Pauls, 2003)
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 • 2 had 4 and 5 affected siblings• Candidate genes such as the dopamine D4 receptor DRD4 have been
suggested but fail to be replicated (Pauls, 2003)
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 generalizable to entire population because of high comorbidity rates
• As earlier stated, perspective of disorder is important in approaching targets of treatment intervention
Neuroanatomical/Genetic
Substrates
Motor Tics/ (simple or complex)Vocal Tics
Age
Comorbidity ADHD/OCD
Awareness of Behaviors
Tic Severity
Self-InjuryInattentiveness
AggressionFunctional ImpairmentDeficits in relationships
Stress/Anxiety/Fatigue/
InattentionInhibitory deficits
Academic/Behavioral Functioning
Socialization/Peer- acceptance/
Quality of relationships
Cunningham TS Model 2013
REFERENCES
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A
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Bloch, M. H., & Leckman, J. F. (2009). Clinical course of tourette syndrome. Journal of Psychosomatic Research, 67, 497-501.
Brito, G. N. O. (1997). A neurobiological model for tourette syndrome centered on the nucleus accumbens.
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