2.8 Tourette's Syndrome

What makes tics worse?

- Anticipation - Emotional upset - Fatigue

How is TS diagnosed? Criteria?

- Both multiple motor tics and one or more vocal tics have been present at some time during the illness, although not necessarily concurrently. - The tics occur many times a day (usually in bouts) nearly every day or intermittently throughout a period of more than 3 consecutive months. - The onset is before the age of 18. - The disturbance is not due to the direct physiological effects of a substance (e.g. stimulants) or a general medical condition (e.g. Huntington's disease or postviral encephalitis).

What does behavioural therapy consist of?

- Cognitive behaviour therapy (especially with co-morbid OCD) - Relaxation training - Biofeedback - Hypnosis - Exposure with response prevention (ERP)

How is behavioural therapy limited?

- Habit-reversal treatment is efficacious (succesful) in suppressing tics. However: o not widespread o time-consuming o lack of evidence for clear long-term benefits

SO- what causes TS?

- Little direct pathological evidence - Symptoms responsive to dopamine antagonists - Greatest concentrations of dopamine found in striatum - Striatum assumed to be site of dysfunction

What is the Striatum?

- Major component of the basal ganglia - Basal ganglia, a collection of subcortical structures which regulate activity of frontal lobe o Motor cortex and Prefrontal cortex

What are the consequences of such comorbities with TS?

- Obsessive-compulsive behaviours occur in about 20-60% of TS patients. - recurrent thoughts or repetitive behaviours. - generally emerge several years after onset of Tics. - correlates with increased psychosocial problems - disruptive behaviour - school-related problems

What is the PANAS/PANS hypothesis leading to TS?

- PANDAS: streptococcal infections trigger immune responses that interact with the brain. - ...evolved to now include PANS, which removes the necessity of streptococcal infection and broadens the definition to an acute and sudden onset of tics and OCD . - Recent studies provide evidence that infection or inflammation in utero or ex utero is associated with Tourette syndrome expression.

What helps to subside tics?

- Person is absorbed in activities - Concentrating - Asleep

Are tics voluntary or involuntary?

- Tics cannot be indefinitely inhibited - but nonetheless are under partial control - at least for a short duration How? - Sensory events, commonly an urge, impulse, tension, pressure, itch, or tingles that take place before a motor or phonic tic. - Tics may be a voluntary response to an involuntary sensation - Therefore, may be "unvoluntary" rather than involuntary.

Conclusion

- Tourette's syndrome has been linked to basal ganglia (motor control, as well as other roles such as motor learning, executive functions and behaviors, and emotions) - This syndrome is defined by motor and vocal tics - Dopamine regulation problem - behavioural therapy and dopamine antagonists seem effective to suppress tics.

What are examples of simple motor tics?

- Twitching - eye blinking - facial grimacing - head jerking - dystonic tics - tonic tics

How does TS typically develop?

- Typically begins with motor tics - Vocal tics present later. - Tics typically wax and wane. (increase & decrease) - Long-term course of Tourette's can be variable - Tics often improve in late adolescence or early adulthood

How can pharmacotherapy help to treat TS?

- all pharmacology must be regarded as symptomatic therapy. - clonidine or guanfacine, which are alpha-2 adrenergic agonists - classic neuroleptic antipsychotic agents haloperidol and pimozide which block D2 dopamine receptors (Kurlan, 2010). - when tics are controlled with neuroleptics for 1 to 3 months, tic relapse occurs in 231 days, vs. 37 days in a placebo group (Tourette syndrome study group, Neurology 1999). - Newer atypical antipsychotic agent (risperidone) has seen recent support (32% symptom severity reduction vs. 7% for placebo group).

What 3 treatment therapys are there for TS?

- behavioural - pharmalogical - surgical

What is an example of a more complex motor tic?

- purposeful looking movements (hand claps, etc)

What are examples of more complex vocal tics?

- words - partial words - Syllables - Phrases - Echolalia - Palilalia - Coprolalia

Exam: According to the DSM V a diagnosis of TS requires? Identify false statement.

A. Both multiple motor tics and one or more vocal tics. B. The tics occur many times a day (...) for more than 3 consecutive months. C. The onset is before the age of 18. D. The presence of coprolalia (the involuntary and repetitive use of obscene language, as a symptom of mental illness or organic brain disease.) for more than 3 consecutive months. E. The disturbance is not due to the direct physiological effects of a substance or a general medical condition

Exam: Tics are commonly exacerbated(made worse):

A. During sleep? B. When patient is absorbed in activities? C. When the person is anxious? D. All of the above?

How is genetics linked to TS? Twins?

Best evidence comes from studies of twins: o 77 % concordance rate for chronic tic disorder in monozygotic twins vs. 22 % for dizygotic twins The precise pattern of transmission and the identification of specific genes responsible is however elusive.

What is the surgical therapy for TS? Botulinum toxin

Botulinum toxin: o most frequent for eye-blinks, neck and shoulder tics o but also in vocal chords o temporary benefits (3 to 6 months). o many undesirable side-effects

What was one of the first cases reported and who described it?

Described by Gilles de la Tourette in 1885 La Marquise de Dampierre • One of the first case reported • French noblewoman with persistent body tics • Uncontrollable utterances of obscenities

What is the economic impact of TS?

TS can be a barrier to employment

What is the social impact of TS?

TS can lead to ridicule, bullying and social exclusion

What is the educational impact of TS?

TS can make it impossible to follow what is going on in class

Does TS have comorbities?

YES- with ADHD and OCD and possible some behavioural problems that overlap ADHD and OCD

What are the negatives to pharmacotherapy?

all have considerable negative side effects including: o sedation, depression, weight gain, parkinsonism, glucose intolerance

What are examples of simple vocal tics?

inarticulate noises (including): - throat clearing - sniffing - coughing

What is the surgical therapy for TS? Deep brain stimulation

o High frequency stimulation suppresses neural activity o Implant in basal ganglia nuclei to interrupt abnormal striatal signals o At the moment, some success seen in ~50% of the few cases known in the UK. o In the other half, no change or perhaps worse off than before. o Not a recommended approach overall.

What is the physical impact of TS?

tics can cause damage to joints or self-injury, e.g. hitting oneself

What is Tourette's Syndrome?

• Characterised by motor and vocal tics • neuropsychiatric spectrum disorder: o tics are commonly associated with symptoms of other neurodev. conditions • Previously, syndrome assumed to be: o chorea o or symptom of hysteria (now referred to as somatization disorder) • inherited condition of genetic origin

Other facts about tourettes?

• affects 3 times as many boys than girls • 80% of TS will present a comorbidity • often missed in the GP practice because the children can suppress the tics • only 10 per cent of people with TS have a swearing tic (coprolalia)

When does it begin to develop?

• children first start to exhibit recognisable symptoms between 5 and 7 years old. • motor tics appear earlier in development than vocal tics. • tends to get worst around puberty and change of school (~13 years old is a high point) • 50 % of people will see their tics begin to abate (less intense) as they approach 18 - 19 years old.

What is the prevalence of tourettes?

• ~ 1 % of school children (approx. 300,000 children and adults in the UK). • ~ 40 000 adults in the UK currently present symptoms severe enough to disrupt their lives. • typically starts in childhood • the average age for diagnosis in the UK is 7 years • Average age of onset 2-15 years (median 7) • 3x or 4x more common in males • prevalence about 1-10 in 1000 children/adolescents.