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Tourette Syndrome

Gilles De La Tourette Syndrome

Tourette syndrome is a common tic disorder that is a subset of hyperkinetic movement disorders. Hyperkinetic disorders are characterized by abnormal involuntary movements. These can range from jerks, chorea, and dystonia to tics.


Presentation

The tics may be either simple or complex. Simple tics may be:

  • Blinking
  • Shoulder shrugging
  • Head nodding or jerking

Complex ones include:

  • Scratching 
  • Body gyrations
  • Kicking
  • Jumping
  • Seductive and obscene gestures 

The tics are suppressible, but they are associated with an irresistible urge and sensations that are relieved when the tic occurs. Involuntary vocalizations, may range from sounds to words. The words may be obscene (coprolalia) which occurs in 40% of patients with word tics. Some may repeat a single word many times. Many also experience copropraxia (obscene gestures), echopraxia (mimicking of gestures) with unusual fixations and fanaticises. The neurologic exam is usually normal except for the tic [9].

Crying
  • "I tried to hide it as much as I could from the cameras," the 29-year-old said and started to cry. "People noticed and I think that made it worse — and let me tell you, people are mean. People are very, very mean. They are so quick to judge."[intouchweekly.com]
  • I often started crying right there on the field. I was 10 when the symptoms began to appear. First came the touching: I walked through the house tapping certain objects in a particular order. Touch the railing. Touch the door frame.[web.archive.org]
  • The second patient reported complete remission of coprolalia soon after surgery, and the third reported a reduction in tics and obsessive crying by 1 year after surgery.[ncbi.nlm.nih.gov]
Laboratory Technician
  • technicians, clerical workers, research scientists, volunteers, managers, receptionists, and nurses.[ncbi.nlm.nih.gov]
Food Intolerance
Unilateral Blindness
  • Her symptoms included frequent vocalizations and severe head and arm jerks that resulted in unilateral blindness. Trials of more than 40 medications and other therapies had failed to relieve the tics.[ncbi.nlm.nih.gov]
  • We present the case of a 40-year-old woman with TS whose severe tics had caused unilateral blindness.[ncbi.nlm.nih.gov]
Muscle Twitch
  • The side effects of typical neuroleptics include: drowsiness shaking trembling muscle twitches spasms Side effects of both typical and atypical neuroleptics include: weight gain blurred vision constipation a dry mouth Adults with Tourette's syndrome who[hse.ie]
  • Side effects include anxiety, restlessness, confusion, muscle twitching, muscle spasms, seizures, unusual behavior, thoughts of hurting self or others, unusual bleeding, trouble sleeping, and seeing or hearing things that are not there. ( 14 ) Oxazepam[draxe.com]
Facial Grimacing
  • Some of the more common tics include: eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking.[healthcare.utah.edu]
  • Tic Categories Two categories of TS tics and some common examples are: Simple: Motor - Eye blinking, head jerking, shoulder shrugging and facial grimacing; Vocal - Throat clearing, yelping and other noises, sniffing and tongue clicking.[web.archive.org]
  • Common tics include: Eye twitches Facial grimaces Throat clearing Sniffing Grunting Head or shoulder jerking Shoulder shrugging Words or phrases Deep brain stimulation surgery for Tourette's syndrome at UCLA Behavioral therapy and medicines are the standard[neurosurgery.ucla.edu]
  • ., rapid eye-blinking, facial grimacing, shoulder-shrugging) to complex (involving several muscle groups, such as hopping, bending, or twisting); and vocalizations, also along a range of simple (throat-clearing, sniffing, grunting) to complex (involving[parentcenterhub.org]
  • The two categories of the tics of TS and some common examples are: SIMPLE Motor - eye blinking, head jerking, shoulder shrugging, facial grimacing, nose twitching Vocal - throat clearing, barking noises, squealing, grunting, gulping, sniffing, tongue[tourette.org.au]
Impulsivity
  • SIB, obsessions, compulsions, tic severity, attention deficit hyperactivity disorder related impulsivity, risk taking behaviours, and rages were systematically assessed in all subjects.[ncbi.nlm.nih.gov]
  • Mood and anxiety disorders, impulse control disorders, rage attacks, "impulsive" tic-like behaviors (e.g., nonobscene socially inappropriate behaviors, and self-injurious behaviors), and autism spectrum disorders complete the wide psychopathological spectrum[ncbi.nlm.nih.gov]
  • Although multiple motor and vocal tics are the key diagnostic phenomena, hyperactivity, impulsivity, inattention, obsessive-compulsive, and emotional symptoms are common in many patients.[ncbi.nlm.nih.gov]
  • Premonitory sensations were reported by 46 (92%) patients, and the most common sensation was an urge to move and an impulse to tic ("had to do it").[ncbi.nlm.nih.gov]
  • Whereas the anterior internal capsule site had also produced psychiatric side effects such as altered mood and impulse control, the thalamic site has not done so to date.[ncbi.nlm.nih.gov]
Psychiatric Manifestation
  • Trial Registration clinicaltrials.gov Identifier: NCT00139308 Tourette syndrome (TS) is characterized by motor and vocal tics associated with various psychiatric manifestations, which can cause major familial and social disability. 1 In patients with[dx.doi.org]
  • manifestations that affect social and professional life. 1 Severe forms of the disease respond poorly to medical treatment, which has potentially serious side effects. 2 Severe tics have been improved by median thalamotomy 3 and hyperkinesias by pallidotomy[dx.doi.org]
  • Neurologic and psychiatric manifestations of celiac disease and gluten sensitivity. Psychiatr. Q. 2012, 83, 91–102. [ Google Scholar ] [ CrossRef ] [ PubMed ] Bushara, K.O. Neurologic presentation of celiac disease.[mdpi.com]
Renal Stone
  • Recommendation 11b Physicians must counsel patients regarding common adverse effects of topiramate, including cognitive and language problems, somnolence, weight loss, and an increased risk of renal stones (Level A).[doi.org]
Hyperactivity
  • The pathophysiology of TS mainly involves dysfunction of basal ganglia-related circuits and hyperactive dopaminergic innervations.[ncbi.nlm.nih.gov]
  • It has also become clear that TS frequently co-occurs with attention-deficit/hyperactivity disorder), obsessive-compulsive disorder, and a range of other mood and anxiety disorders.[ncbi.nlm.nih.gov]
  • Both ADHD factors (inattentive and hyperactive/impulsive symptoms) were genetically related to TS, ADHD, and OCD.[ncbi.nlm.nih.gov]
  • MTA Cooperative Group Multimodal Treatment Study of Children with ADHD: a 14-month randomized clinical trial of treatment strategies for attention-deficit/hyperactivity disorder.[ncbi.nlm.nih.gov]
  • Methylphenidate and dextroamphetamine treatments of hyperactivity: are there true non-responders? Psychiatr Res 36: 141–155, 1991. CrossRef Google Scholar 138. Erenberg G, Cruse RP, Rothner AD.[doi.org]
Vocal Tic
  • Symptoms usually begin with simple motor or vocal tics which then evolve into more complex motor and vocal tics over time.[ncbi.nlm.nih.gov]
  • Dopaminergic modulation e.g. with antidopaminergic medication is an important part of the medical therapy aimed at motor and vocal tics.[ncbi.nlm.nih.gov]
  • VOCAL TICS Vocal tics represent involuntary sounds produced by moving air through the nose, mouth, or throat. They can also be referred to as phonic tics.[web.archive.org]
  • Simple vocal tics include sniffing, grunting, throat clearing, uttering single syllables (e.g. uh-uh-uh) and humming.[tourette.ca]
Tic Disorder
  • BACKGROUND: Few studies have investigated mortality risk in individuals with tic disorders.[ncbi.nlm.nih.gov]
  • The burden of behavioral comorbidities is very important in determining the degree of disability of patients with primary tic disorders. Only 10%-15% of these patients presents exclusively with a tic disorder.[ncbi.nlm.nih.gov]
  • To aid investigators searching for the gene(s) causing Tourette syndrome, criteria are proposed to classify the idiopathic tic disorders.[ncbi.nlm.nih.gov]
  • Tic disorders and Tourette's syndrome are conditions that primary care physicians are likely to encounter. Up to 20 percent of children have at least a transient tic disorder at some point.[ncbi.nlm.nih.gov]
  • Volitional action as perceptual detection: predictors of conscious intention in adolescents with tic disorders. Cortex 2015; 64 :47–54. [ PubMed ] [ Google Scholar ][ncbi.nlm.nih.gov]
Coprolalia
  • Coprolalia is one of the most distressing symptoms in Gilles de la Tourette syndrome.[ncbi.nlm.nih.gov]
  • In addition, all patients presented with multiple tic-related symptoms (mainly self-injurious behaviors and echolalia, n 7; palilalia, n 6; coprolalia/mental coprolalia, n 5), and six patients had comorbid conditions (in particular obsessive-compulsive[ncbi.nlm.nih.gov]
  • When "words" related to these phenomenon (e.g. echolalia, palilalia, coprolalia or mental coprolalia) are elicited in deaf people, they occur usually in British Sign Language (BSL): the more "basic" vocal/phonic tics such as throat clearing are the same[ncbi.nlm.nih.gov]
  • Despite widespread publicity, coprolalia/copropraxia is uncommon with tic disorders. Neither echolalia (echo speech) or coprolalia/copropraxia is necessary for the diagnosis of Tourette syndrome.[web.archive.org]
Grunting
  • […] tu̇-ˈrets- \ variants: or Tourette syndrome \ tu̇-ˈret- \ : a familial neurological disorder of variable expression that is characterized by recurrent involuntary tics involving body movements (such as eye blinks or grimaces) and vocalizations (such as grunts[merriam-webster.com]
  • These vocalizations include grunting, throat clearing, shouting and barking. The verbal tics may also be expressed as coprolalia (the involuntary use of obscene words or socially inappropriate words and phrases) or copropraxia (obscene gestures).[web.archive.org]
  • It is not uncommon for a person to continuously clear the throat, cough, sniff, grunt, yelp, bark or shout. People with Tourette syndrome may involuntary shout obscenities or constantly repeat the words of other people.[ucdmc.ucdavis.edu]
  • Examples of physical tics: blinking eye rolling grimacing shoulder shrugging jerking of the head or other limbs jumping twirling touching objects and other people Examples of vocal tics: grunting throat clearing whistling coughing tongue clicking animal[nhs.uk]

Workup

Once the history and exam is taken there is no further workup required to make the diagnosis.

Diagnostic criteria for Tourette syndrome (DSM-IV) are as follows:

  • Both multiple motor and 1 or more vocal tics have been present at some time during the illness, though not necessarily concurrently. A tic is a sudden, rapid, recurrent, nonrhythmic, stereotyped motor movement or vocalization.
  • The tics occur many times a day (usually in bouts) nearly every day or intermittently throughout a period of more than 1 year, and during this period there was never a tic-free period of more than 3 consecutive months.
  • The onset is before age 18 years.
  • The disturbance is not due to the direct physiologic effects of a substance (eg. stimulants) or a general medical condition (eg. Huntington disease or postviral encephalitis) [9] [10].
Staphylococcus Aureus
  • Infection is another potential complication, particularly from Staphylococcus aureus in the infraclavicular region near the battery insertion site ( 34 ).[ncbi.nlm.nih.gov]

Treatment

  • Dopamine agonists/antagonists reduce the frequency and intensity of the tics in up to 80% of the patients. 
  • Habit reversal training includes tic awareness training to try and help the patient prevent the tic before it occurs. The other is compete response training to train the patient to perform a movement that will not allow the tic [11].
  • Botulism toxin may be used to paralyse small muscle groups to try and reduce the tic. 
  • Others drugs such as topiramate may be useful.

Prognosis

The condition can persist throughout life, in children it can go into remission and 50% will have reduced tics by the age of 18. Some tics are not distressing or life limiting, but other can cause a lot of distress and anxiety. The vocal sounds and words can be profane or loud causing the sufferer to be very conscious in public. Some tics are violent and cause injury to the patient.

Etiology

The discovery of genes that may be responsible for the syndrome was a big step in trying to elucidate the cause of the Tourette syndrome. The mutation in the SLITRK1 gene on chromosome 13q is expressed in the regions in the brain that are implicated in the disease; these include the hippocampus, cortex, thalamic, subthalamic and globus pallidus nuclei). The gene appears also to be important in dendritic growth.

Other genes have been discovered in families with Tourettes; one of note is the HDC gene located in chromosome 15. There also appears to be non-genetic factors, because there have been differences in monozygotic twins. Proposed postulates include a difference in the immune response to streptococcus infection. There is on-going research to the possible connection with streptococcus infections [2] [3].

Epidemiology

The overall international data shows are prevalence of about 1%, but these figures are thought to be unreliable due to different propensities for people to seek medical care in different communities and cultures. The typical age of onset is five to ten years of age.

There is a high incidence of attention deficit hyperactivity disorder (ADHD) (60 percent), and obsessive-compulsive disorder (OCD), in this population [4] [5] [6].

Sex distribution
Age distribution

Pathophysiology

The neurophysiology of this syndrome is not yet known. It is thought to be caused by pathologies in the inferior frontal cortex and the basal ganglia. There appears to be loss of normal asymmetry in these regions on imaging. Biochemical studies from autopsies have shown decreased levels of dopamine but its role in the pathophysiology is not known. There have been signs from of increased dopamine receptors and production. It is thought that problems in the synthesis and uptake of dopamine could be the cause [7] [8].

Prevention

Genetic counselling is the only know prevention, due to its strong genetic component. Parents with suffering from tics have to know the risks of their offspring having the same condition as them and the associated comorbidities, such as obsessive-compulsive disorder.

Summary

Tourette syndrome (TS) is a neurological disorder characterized by tics. Tics are repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. The tic can be brief movements of utterances such as sounds or words. Of note these movement disappear with sleep. The tic are suppressible, but the longer they are suppressed the stronger the urge [1].

Patient Information

  • Definition: Tourette syndrome is a disorder that causes unusual movements or sounds, called “tics.” Examples include blinking and shrugging. People with the disorder have little or no control over their tics. The symptoms may be mild but some can be sever and distressful. 
  • Cause: The cause is thought to be genetic. The abnormal genes are passed down from the parents. It is though that these gene changes cause chemical changes within the bairn.
  • Symptoms: Motor tics are tics that involve unusual movements. They can be mild (called “simple motor tics”) or more extreme (called “complex motor tics”). Examples of motor tics include: Blinking, briefly grimacing, and shrugging the shoulders. Vocal tics include throat-clearing, or other noises, or swearing and repeating words or phrases (including echoing what other people say).
  • Diagnosis: The diagnosis is made by history and examination. The doctor will make the diagnosis from this and there is rarely any need to do more tests.
  • Treatment: These include medicines that can reduce the tics, and habit reversal training which help the patient recognise when the tic is about to happen, so they can prevent it. Other medicines such as botulinum toxin, have been used to paralyse muscles that cause the movements.

References

Article

  1. Kurlan R. Clinical practice. Tourette's Syndrome. N Engl J Med 2010; 363:2332.
  2. Devor EJ. Untying the gordian knot: the genetics of Tourette syndrome. J Nerv Ment Dis. Nov 1990;178(11):669-79
  3. Pauls DL. Issues in genetic linkage studies of Tourette syndrome. Phenotypic spectrum and genetic model parameters. Adv Neurol. 1992;58:151-7
  4. Prevalence of diagnosed Tourette syndrome in persons aged 6-17 years - United States, 2007. MMWR Morb Mortal Wkly Rep. Jun 5 2009;58(21):581-5.
  5. Robertson MM. The prevalence and epidemiology of Gilles de la Tourette syndrome. Part 1: the epidemiological and prevalence studies. J Psychosom Res. Nov 2008;65(5):461-72
  6. Hebebrand J, Klug B, Fimmers R, et al. Rates for tic disorders and obsessive compulsive symptomatology in families of children and adolescents with Gilles de la Tourette syndrome. J Psychiatr Res. Sep-Oct 1997;31(5):519-30
  7. Miller AM, Bansal R, Hao X, Sanchez-Pena JP, Sobel LJ, Liu J. Enlargement of thalamic nuclei in Tourette syndrome. Arch Gen Psychiatry. Sep 2010;67(9):955-64
  8. Abelson JF, Kwan KY, O'Roak BJ, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005; 310:317.
  9. American Psychiatric Association. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 4th ed, Text Revision. Washington, DC: American Psychiatric Association; 2000.
  10. Leckman JF, Zhang H, Vitale A, et al. Course of tic severity in Tourette syndrome: the first two decades. Pediatrics 1998; 102:14.
  11. Bockner S. Gilles de la Tourette's disease. J Ment Sci. Oct 1959;105:1078-81

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Last updated: 2019-07-11 21:33