Synonyms: Gilles de la Tourette's syndrome (the eponym originating from the full surname), Brissaud's syndrome, Guinon's disease, compulsive swearing syndrome, coprolalia-compulsive syndrome, chronic motor tics
This is a neuropsychiatric syndrome, characterised by motor and vocal tics, which runs a fluctuating course. It may be associated with behavioural abnormalities and other psychological conditions - eg, obsessive-compulsive disorder (OCD).
In 1885 Dr Georges Gilles de la Tourette described nine patients with the syndrome, which was subsequently named after him. However, the original description was by Dr Jean Itard in 1825 who described the case of the cursing Marquise de Dampierre.
The disorder was originally thought to be psychiatric - however, it most likely represents a combination of pathologies.
- The prevalence is 0.3-1%, The typical age of onset is 5 to 6 years. Male:female ratio is 3-4.3:1.
- It is also thought to be more common in Ashkenazi jews (not confirmed in some studies) and patients of Mediterranean origin. 10% of patients have an affected first-degree relative and twin studies report 90% concordance in monozygotes.
- Onset is usually in childhood - 2-14 years of age (mean age of 7 years).
The aetiology of Tourette's syndrome is controversial and several theories have been proposed:
- There is a strong genetic component with a familial linkage to OCD. Current studies suggest a single major autosomal dominant gene with pleiotropic expression (ie chronic motor tics, Tourette's syndrome or OCD) and incomplete penetrance. Other recent studies suggest several genes rather than one and an interplay between genetic and environmental factors.
- Other theories include:
- Reduced serotonin transmission.
- Reduced blood tryptophan levels.
- Abnormalities of dopamine regulation with excess dopamine. Abnormalities of dopamine in mesencephalic-mesolimbic system are thought to result in disinhibition of the limbic system. This is supported by differences in symmetry of the putamen and lenticular nuclei. Furthermore, dopamine D2 receptor antagonists relieve some of the symptoms.
- Abnormal discharges in the frontal lobes.
- Repeated streptococcal infections.
- Prenatal and perinatal difficulties.
- Cortical thinning and reduction in the size of the caudate nucleus.
Tics can be defined as sudden, purposeless, repetitive, non-rhythmic, stereotyped movements or vocalisations - eg, eye twitching or blinking. Examples of vocal tics are throat clearing, grunting and barking.
- Multiple motor tics and one or more vocal tics starting before the age of 18 years.
- Presence for more than one year (may occur many times in a day or be intermittent).
- Tics lead to significant impairment in function.
- The tics are not due to drug abuse or secondary causes (see below).
Other features that may be seen in Tourette's syndrome
- Echolalia - involuntary copying of others' words.
- Palilalia - repeating one's own words.
- Coprolalia - compulsory saying of dirty words, which is pathognomonic of the syndrome and is seen in about 10% of patients.
- Copropraxia - making obscene gestures.
- Echopraxia - involuntary copying of others' movements.
- Difficulty concentrating or easily distracted.
Tourette's syndrome is associated with a number of other problems
Frequency in Tourette's syndrome
Attention deficit disorders
Obsessive-compulsive disorder (OCD)
The causes of these associations are not clearly understood but may be related to neurophysiological and/or genetic linkages.
Approach to a patient with tics
- Full history (include age of onset, whether tics wax and wane and family history of Huntington's or Wilson's disease) and examination. Include a mental state examination. There are scales available - eg, MOVES scale for tic severity.
- Recognise co-existent disorders - eg, attention deficit hyperactivity disorder (ADHD), depression, sleep problems or learning disabilities. Each of these will need treatment.
- Differentiate tics from other movement disorders - eg, dystonias and chorea.
- Check TFT and consider a throat swab for streptococcus if there is rapid onset.
- An electroencephalogram (EEG) may help if there is concern regarding presence of epilepsy.
- A urine drug screen may help.
- Rule out secondary causes of tics:
- Genetic - eg, Huntington's chorea, Klinefelter's syndrome.
- Acquired - eg, encephalitis, CVA, hyperthyroidism, CO poisoning, streptococcus-induced autoimmune Tourette's syndrome.
- Primary neuropsychiatric disorders - eg, schizophrenia.
- Drugs - eg, cocaine, amfetamines, lithium, antipsychotics, antidepressants, antihistamines and opiates.
- Timely and accurate diagnosis is important. Remember that many patients are children and may have difficulty at school.
- Individualise treatment and include parents/carers.
- Education - should involve the nature and cause of tics; also to emphasise that anxiety, stress and fatigue and stimulants worsen tics. Offer reassurance and support.
- Treat any secondary causes of tics.
- Always look for comorbid conditions, especially as research suggests conditions such as ADHD and OCD will determine quality of life rather than tic severity.
- If there is no underlying cause then the tics may be transient (in which case they will settle) or chronic (may be Tourette's syndrome).
- If tics are mild - try observation or non-pharmacological measures:
- Education, supportive therapy, counselling and psychotherapy have all been found to be helpful although the evidence base supporting them is small.
- A literature survey concluded that behavioural and psychosocial interventions (BPIs) should be the first-line approach for children and adolescents with tic disorders.
- Most evidence was found for habit reversal training (HRT) and the available but smaller evidence also supports the efficacy of exposure with response prevention (ERP).
- HRT involves developing awareness about the tics, developing motivation to change behaviour, adopting new responses to replace the tics and practising these new-found techniques in challenging situations.
- ERP is a similar therapy which involves patients confronting their fears and discontinuing their escape response.
- Moderate-to-severe tics should be treated pharmacologically and the patient referred to specialists (eg, a neurologist, mental health specialists).
- Use the lowest dose necessary to reduce the tics so that the patient can function at an acceptable level. Monotherapy is to be preferred, although patients may require two or more drugs, especially where comorbidity exists.
- Treatment usually needs to continue for 1-2 years - but some need long-term therapy.
- Literature reviews and specialist surveys suggest that the atypical antipsychotic risperidone is the best option for tic control associated with Tourette's syndrome. Weight gain and sedation are common side-effects but extrapyramidal symptoms such as tardive dyskinesia can be a problem at higher doses. In recent years, other effects such as metabolic syndrome have become apparent.
- Neuroleptics, such as haloperidol, are an option but extrapyramidal symptoms are very common. Pimozide has a better side-effect profile in this respect but ECG monitoring is required because of its potential cardiac effects.
- Sulpiride may be particularly useful in children.
- Comorbidities may dictate the choice of treatment. Co-existing ADHD often responds to clonidine; an antipsychotic may be added to control the tics. OCD responds better to risperidone, often in combination with a selective serotonin reuptake inhibitor (SSRI).
- Arpiprazole has been used successfully in coprolalia resistant to neuroleptics and may cause less of a problem with respect to weight gain.
- Clonidine may also help in ADHD. Its side-effects include sedation, weight gain and impaired mental performance.
- Haloperidol is the only drug licensed for the control of tics in Tourette's syndrome. All the other drugs are used off-label in the UK.
- Stereotactic surgery has been used in Tourette's syndrome, for patients with extremely debilitating symptoms.
- Ablation of tissue in various areas - eg, frontal lobe, limbic system or thalamus - is performed.
- The procedure is not without risk - eg, hemiplegia.
- Surgery can also be performed to site electrodes to deliver deep brain stimulation. Studies so far have been encouraging but larger trials are needed. Bleeding, infection, sedation and anxiety are some of the side-effects reported.
More novel therapies
Therapies supported anecdotally but which have not had the benefit of randomised trials include plasma exchange and intravenous immunoglobulin (where streptococcal infection has been implicated), buspirone, carbamazepine and metoclopramide. The evidence for the use of medical marijuana is currently inconclusive.
Severity varies from person to person and peaks in the early teenage years. Studies suggest that one third of children are symptom-free as adults, one third will have mild tics and the remainder will require clinical attention.
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