​What is Tourette Syndrome really like?

How is it recognised, diagnosed and treated?

​
Tourette syndrome is a complex neuro-developmental disorder with strong but poorly understood heritability (autosomal dominant - possibly with incomplete penetrance). Tics are the defining symptoms of the disorder. Tics are the result of abnormal and involuntary neural activity in the brain that gives rise to movements (motor tics) and vocal sounds (vocal tics). Although both must occur for the disorder to be diagnosed, the majority of people with TS will also have other symptom domains (possibly including unseen tic activity), which do not form part of the diagnostic criteria. 

 

TS usually becomes apparant between the ages of 4 and 18 but usually closer to the younger limit. Some children exhibit signs later but it is usual to expect it to be overt by adulthood. Few signs can be elicited on examination unless tics occur during consultation. Referral to an approved specialist neurologist or appropriate neuro-psychiatrist or developmental paediatrician is advised as early as possible. Lists of approved physicians are available from most National Tourette Syndrome Associations in the developed world.

It is extremely common for General/Family Practitioners not to have 'experienced' a case of Tourette Syndrome even over a lengthy career. Part of this is undoubtedly due to poor diagnosis or missed/mis-diagnoses. Although the diversity of presentation can appear complex, it has comparatively straightforward diagnostic criteria.

 

It is said that 90% of 'diagnosis' is in the patient history. Do not be overly dependant on observable signs - you may not detect any. There is little to be seen during general or neurological examination unless visible motor tics are present or vocal tics are prominent. Many children (and more so adults) with TS are able to suppress tics and they may not be evident at all during the consultation. Listen carefully to the patient or their parent/s.

​

It is relatively unlikely that the symptoms of TS would be purposely and consistently 'faked' by a child or falsely reported by a parent in order to seek a diagnosis of Tourette Syndrome. Few people have an accurate picture of the symptomatology and would tend to conform to the media-driven misconceptions of symptoms in attempting to falsely present with the condition. It should also be considered that TS is not the most desireable of diagnoses in respect of the current 'stigmatising' nature of the condition. It is most likely that a parent will be driven to seek a medical opinion due to the impact on family life, bullying at school and from peers or as a result of 'difficulties' in the classroom. For many, a diagnosis may be essential in order to 'qualify' for educational provision and to improve school/college opportunities and progress.

 

TS is not a mental 'illness' and does not have a psychological aetiology however in milder or suppressed Tourette's, life stressors may cause the disorder to become clinically significant.

 

The standard 'Mental State Examination' will reveal little of relevance. Neurological examination will also reveal little although during close examination of the limbs, face and eyes it may be possible to detect muscular tics. Swelling/inflammation or arthralgia in joints subjected to repetitive tics may occur e.g. fingers/wrist/neck etc. Some motor tics may be unintentionally or un-intentionally self-injurious and result in visible bruising or lacerations.

 

Motor tics tend to develop in a cephalo-caudal progression - a head-to-toe development in motor tics often occurs with time but there is no set pattern or eventual consistent repertoire of tics for all individuals. Common early symptoms include facial tics/grimaces, eye rolling, blinking, eye brow raising, screwing-up/twitching of nose, head nodding, neck twisting/tensing. Motor tics can be numerous but 'not seen' and may consist of muscles tensing and relaxing e.g. in the abdomen, diaphragm, buttocks, leg, arm, shoulder and neck muscles. Some individuals may have tics that render walking difficult and include complex tics such as twirling/turning or touching the ground, touching a foot, pulling up a sock, jumping, kicking the buttocks etc. which considerably slow their progress.

Vocal tics may be overt and obvious. Often 'throat clearing' or repetitive coughing appears early but tics may consist of words, phrases, socially or situationally inappropriate phrases, squeaks, squeals, tongue-clicks, lip-smacking, blowing-raspberries, sniffing, guttural sounds from the back of the throat, barks, yelps etc. Some individuals may use swear words (coprolalia) but this is relatively rare (around 10% or less of cases). Other vocal tics may be more subtle and missed such as: blowing air forcibly or rapidly through the nose or mouth with accompanying diaphragmatic contractions.

 

The diversity of vocal tics can encompass the entire range of possible sounds available to the human voice. Despite many doctors believing otherwise, coprolalia (cursing) is rare and is NOT a diagnostic requirement. Other coprophenomena (again relatively rare) may occur, such as copropraxia in which socially-inappropriate gestures etc. may occur (e.g. giving-the-finger).

 

The obstetric, developmental and educational component of the paediatric history are useful for assessing any delay or advancement in normal child development. Children with TS do, according to their parents, show earlier signs of TS when retrospectively viewed after subsequent diagnosis. In an educational setting NLD (non-verbal learning difficulties may be apparent). There may be a family history of tic disorders, OCD/OCB, attention deficit and poor educational development/exclusion or undiagnosed TS.

Classically the diagnosis is recorded as a transient tic disorder until one year has passed with both motor and some vocal tics before determining that it is TS.

 

It is essential with children in whom a diagnosis of Tourette syndrome is suspected or established, that a thorough evaluation is carried out to determine what provision and adjustments may be necessary at school/college in order to reduce any disadvantage due to impairments caused by TS or related co-occurring disorders. Ideally this will involve a qualified educational/clinical psychologist who has sufficient understanding of TS and preferrably input from an occupational therapist. Early interventions in educational provision are highly beneficial and may help reduce the impact of learning difficulties and reduce the likelihood of psychological consequences that may result from an unsuitable educational environment.

Beware of diagnostic differentials in TS. Common pitfalls to correct diagnosis are often due to obtaining an incomplete history. TS is complex and many symptoms mimic those of psychiatric conditions and behavioural disorders as well as other developmental disorders.

 

People with TS are often very physically and mentally active and driven and flit from one subject to another rapidly, or may perseverate in obsessive detail on one subject. They can often speak very rapidly and voluminously and show impatience when listening to others speak and tend to jump in 'out of turn.' It is easy to assume you are dealing with ADD, ADHD or ASD although these must not be excluded and may be co-ocurring conditions with TS. Further compounding the difficulty of separating TS from ASD (autism) are the sometimes blurred boundaries between some aspects of the disorders which can be common to both or 'shared'. Several symptom domains characteristic of ASD can also occur in TS. Studies indicate that over 60% of TS patients have ASD-type symptoms and almost 20% have three or more symptom types that also characterise ASD. It is now known that this overlap probably involves both symptomatology and genetics. Additionally tics do sometimes occur in ASD.

 

Patients with TS often sleep poorly, wake frequently, have unwanted and troublesome thoughts and may suffer from low-mood and periods of driven/exuberant activity. All can be suggestive of a affective or mood disorder (e.g. uni-polar depression/bi-polar disorder). Evidence suggests that in TS, CNS serotonin (and nor-adrenaline) levels are low which may increase the risk of depressive symptoms. Although experiencing low mood an individual may still be driven by their TS and appear relatively animated and bouyant. Low-mood may however also be a reactive consequence of the adversity experienced through living with TS. Some evidence points to hypothalamic involvement in recorded altered sleep and sleep-wave patterns in TS.

 

Sensory processing issues are also a common aspect of TS but rarely mentioned in medical texts and are not a core feature as is now the case for ASD (see also under NLD and SPD in TS). There may be sensory hypersensitivity with consequent sensory defensiveness or low-latent inhibition where the individual may be 'overwhelmed' by sensory detail. Attention should be paid to the possibility of sensory processing problems that interfere with the comprehension of speech and visual input and so affect educational potential. Hearing and eyesight tests are advisable especially if no data is available from earlier/childhood tests.

 

Children with TS-related SPD may have an aversion to certain clothing, bedding or textures against their skin and complain of feeling uncomfortable, irritated or tormented by pressure or the texture of specific materials or surfaces. This may manifest as opposition and tantrums relating to getting dressed in young children or when made to wear 'uncomfortable' socks, shoes, hats, scarves or other items of clothing. Research findings suggest that some individuals display an exaggerrated or negative response to light tactile experiences but can tolerate or enjoy, sometimes to an unusual extent, stronger tactile stimulation. Some may be highly averse to specific foods due to flavour, texture or temperature. The sense of smell can be affected and cause certain 'odours' to be experienced as unpleasant or even abhorrent. Sensory disturbances can also affect the experience of various sounds which are preceived as unpleasant. Central-processing dysfunction in the CNS is indicated and does not seem to involve problems with the apparatus of sensory reception. The cognitive/processing nature of these problems is clear when an individual has inordinately strong aversions/negative reactions to specific visual scenes, sounds, words, phrases or musical sequences that are normally acceptable or only mildly troublesome to others. 

It has been reported that some patients with TS experience polyuria and require frequent toilet breaks. The mechanism for this is not fully understood and has been subject to little research but it may be a possible consequence of impaired neuro-hormonal regulation of diuresis. TS is known to be associated with a number of neuro-hormonal perturbances and involvement of the hypothalamic-pituitary axis has been proposed. Polyuria in TS has the potential to resemble diabetes insipidus or other causes of increased urine-production and thirst. Beware of diagnosing polydipsia as a psychological cause of polyuria. Polydipsia could in this case be a compensatory response to polyuria and consequent dehydration. Reducing fluid intake appears to have a very delayed response with regard to increasing water-reabsorption and reducing urine-flow and requires relatively prolonged dehydration. This remains an area of contention with most 'evidence' being anecdotal and requires more research.

 

Evidence suggests dopamine is the key neurotransmitter responsible for tic behaviours and that it is predominantly over-activity of dopaminergic neurons in the basal ganglia that are implicated. The involvement of the serotinergic system is also implicated in tic behaviours and many other TS symptoms and behaviours. Recent research indicates a role for other neurotransmitters/neurohormones including nor-epinephrine, GABA and histamine as well as neuro-anatomical structural changes in several areas of the brain.

Perhaps the biggest challenge and a subject of controversy are the very common obsessive and compulsive behaviours/symptoms (OCB/OCS) that are frequently part of TS. Studies have suggested variously that 40% to 80% of TS patients have OCSs. Psychiatric opinion has generally tended to see TS as merely a tic disorder and any other aspect as separate co-morbid disorders. There is hence something of a tradition for labelling these behaviours as co-morbid OCD. Recent studies suggest however that the OCBs of TS differ from the pattern usually seen in classic OCD a perspective also supported by many patients with TS.

 

In OCD, behaviours that relate to 'worries' about cleanliness and contamination are relatively more frequent. In TS the pattern is often very complex and frequently includes obsessions involving order, evening things up, balance and spatial or numerical symmetry. There is also a subtle interplay involving complex-tics which are undoubtedly compulsive. The individual is aware of the irrational nature of obsessive thoughts that compel them to enact complex actions or rituals.

 

Obsessive-compulsive 'activities' can be internalised and occur entirely cognitively and include mental recitation of words, phrases, sounds/music or counting rituals and reading-related difficulties, or be overt and include touching, touching objects a certain number of times, rotating one way or the other etc. There is a growing tendency to refer to this as OCS, in TS, to distinguish it from OCD. Additionally there is a difference in the responsiveness of 'Tourettic OCD' behaviours and 'classic OCD' to medication (such as SSRIs). Indications are that in TS they may prove more refractory to medication. It has been shown that individuals with TS including obsessive-compulsive symptoms, tend to have more 'internalised' symptoms - their symptoms (signs to the observer) would therefore not be as noticeable to others. Additionally the level of resultant disability has been assessed as greater in those who have TS plus other symptom domains or 'co-morbidities' such as OCD/OCS (or attention-deficit, hyperactivity or depression).

 

Some TS patients do report benefits from SSRIs but this varies from one individual to the next - some state that they feel calmer and less anxious, have improved concentration, sleep better and experience reduced complex-tics/obsessions/compulsions. However this has not been subject to methodical study and good evidence remains elusive. This may be an option for patients unwilling to use neuroleptics or form an adjunct to other tic-reduction therapies. Paroxetine is contraindicated for paediatric use however fluoxetine or an alternative SSRI may be considered. It should be noted that many patients experience only limited improvement in TS-related obsessive-compulsive behaviours with SSRI treatment. Differences in the symptomatology/presentation of Tourettic-OCB and OCD should be considered. SSRIs may benefit TS patients who have depressive symptoms.

Neuroleptics (dopamine antagonists) should be used with caution in children and titrated to the lowest-effective dose. Refer to published guidelines on TS pharmacotherapy (e.g. new UK/European and US/Canadian guideline documents - see resources menu on this website). Dosages are considerably lower than those commonly used for the treatment of psychotic illness. Older typical antipsychotics such as haloperidol are still used in the treatment of TS and may be effective in some patients. Pimozide (Orap) is often effective but with a lower risk of adverse side-effects (e.g. Tardive dyskinesia etc.). Most prefer the non-neuroleptic, Clonidine as a first line treatment in children and consider the addition or substitution of a neuroleptic if necessary, if symptoms prove refractory. Seek advice and always reference current prescribing advice. The pharmacology of TS is ever-evolving and many newer drugs (e.g. guanfacine) are being used for tic symptom control. Reference should always be made to current protocols or referral made to an experienced specialist. Useful documents: Dx and Tx >>

 

There has been controversy about the use of methylphenidate (Ritalin) in TS patients due to concerns about possible exacerbation of tics however recent published work suggests benefits may be sufficient to offset potential side-effects in most individuals. Hyperactivity and attention deficit are frequently intrinsic to TS and medication for the treatment of possible ADD/ADHD must be carefully considered.

Some individuals benefit from Cognitive behavioural and so-called 'habit-reversal' therapies (CBT/CBIT/HRT) which may be beneficial in reducing/ameliorating tic behaviours. Recents studies suggest a good response to specific behavioural therapies in some patients and that these should be considered before pharmaceutical interventions are employed. 

 

Good advice to patients should always include strategies for reducing stress and anxiety and other symptom-provoking environmental triggers. Emotional reactiveness and negative reactions/distress due to sensory sensitivity/poor selective-inhibition can benefit from family and personal strategies to reduce the exposure to provoking stimuli. Always be aware that although noticeable vocal and motor tics may be distressing to the patient, it is often the unseen aspects of TS that cause the most difficulty e.g. obsessive thinking, unseen tics affecting attention, sensory-processing difficulties, social communication, study, IT use, sleep and cognitive difficulties.

​

A large proportion of children and adults with TS experience discrimination (they are generally painfully aware of even subtle aspects of this) on a daily basis and suffer profound disadvantage at many critical points in their life's progress e.g. social development and opportunities for long-term friendship, educational disadvantage and exclusion and to a very profound degree in career development.

 

Although depression is common in TS, it is likely that adversity and continual negative encounters is the greater cause and that depression is sometimes 'reactive' rather than, or as well as, neuro-chemical. It may be that good support from others, such as TS support groups, the Tourette Syndrome Association, good educational support and Tourette Camps and events, is the most beneficial approach. For some, CBT, may be very helpful although unlikely to be so unless the therapist is well-versed in TS.

​

Frequently TS patients take exception to or are even angered by 'psychological' approaches that propose strategies that are appropriate to those they see as more 'neurotypical' and feel they are of less value for someone with TS. Their answer may often be "but you do not have Tourette syndrome" and "how do I manage my TS?"

 

TS is extremely difficult to compensate for completely and many give the impression to others that they are doing well at it by concentrating on those aspects that 'bother' other people. The reality for many is that negotiating 'everyday life' may be challenging and exhausting but that others (even their closest companions) have little awareness of what they live through. Do not imagine that you know what TS is like to have. You will, invariably, make incorrect assumptions and this is entirely understandable. Take your cue from your patient/client/student with TS and always let them try to describe it to you and listen carefully - most are only too glad to respond positively when someone shows genuine interest in them and wishes to learn more - you may be astonished and intrigued.

 

Physicians and other healthcare (or social welfare) professionals who impress those with TS with their insight and understanding are unfortunately rare. Those that do impress are readily recommended to others. This is changing as more research, awareness and better clinical expertise and treatment approaches have developed. Teaching about TS in medical schools (and nursing and teacher training) has been notoriously poor - many are taught nothing at all - but this is slowly changing. A recent initiative that has met with considerable enthusiasm in the USA is that of bringing trainee doctors, psychologists, educationalists and occupational therapists into contact with people with TS so they can learn at first hand. Also TS ambassadors now give talks at educational institutions and elsewhere to spread awareness and correct many of the prevalent misconceptions that surround TS. 

 

There's a hunch among many with TS that when they do meet someone who has unusually strong empathy and uncanny insight into their disorder, then it is quite likely that they too have TS! Often a strong rapport exists with those who have ASD/Asperger's or OCD also.