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].
Entire Body System
- Disability
Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). [healthcare.utah.edu]
Links updated, July 2015 See fact sheets on other disabilities The Individuals with Disabilities Education Act (IDEA), our nation’s special education law, defines 14 categories of disability under which a child may be found eligible for special education [parentcenterhub.org]
Mean objective tic disability diminished in comparison to childhood (mean composite tic disability score childhood 9.58 vs adulthood 7.52, p = 0.014). [ncbi.nlm.nih.gov]
- Developmental Disorder
Clarification of the definition of Pervasive Developmental Disorder Not Otherwise Specified Autism was first included in DSM-III in 1980 in a new class of conditions--the Pervasive Developmental Disorders. [web.archive.org]
Zinner, Assessment and Management of Tic Disorders in Pediatric Primary Care Settings, Current Developmental Disorders Reports, 10.1007/s40474-019-00168-8, (2019). [doi.org]
Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). [ncbi.nlm.nih.gov]
Description Tourette Syndrome (TS) is a neuro developmental disorder characterized by repeated involuntary movements (motor tics) and uncontrollable sounds (vocal or phonic tics). [brainfoundation.org.au]
These children would typically receive a DSM-IV diagnosis of pervasive developmental disorder–not otherwise specified. [psychnews.psychiatryonline.org]
- 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]
Is this like your desperate cry for attention? Reporter: This girl, just a few years older than our actors, reacts with anger. Is this contagious? Were you born ignorant? Reporter: And she has no problem calling out our bullies. [abcnews.go.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]
- Family History of Depression
[…] and depression have a positive family history of depression. [ncbi.nlm.nih.gov]
Respiratoric
- Cough
Shoulder shrugging Stepping in a certain pattern Eye darting Obscene gesturing Nose twitching Bending or twisting Mouth movements Hopping Common vocal tics seen in Tourette syndrome Simple tics Complex tics Grunting Repeating one's own words or phrases Coughing [mayoclinic.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]
Vocal tics can include sounds such as grunts, barks, sniffs, snorts, coughs, and obscenities. Tourette's Syndrome is always diagnosed before the age of eighteen - most commonly appearing around seven years of age. [aacap.org]
People with vocal tics might clear their throat, cough, sniff, click their tongue, grunt, yelp, bark or shout. Some also swear or repeat certain sounds or phrases. [healthdirect.gov.au]
Children with Tourette's make sounds or movements–such as coughing or twitching–that they can't control. These are called tics. Tics usually start at about age 2. They may be at their worst by age 12. Tics tend to decrease during teenage years. [stanfordhealthcare.org]
Musculoskeletal
- 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]
English Muscle weakness, muscle twitches or a pounding heart beat (palpitations). [mymemory.translated.net]
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]
Psychiatrical
- Compulsive Disorder
(472.17 KB) Tourette syndrome and obsessive compulsive disorder (554 KB) Tourette syndrome and anger management (466.22 KB) Tourette syndrome and depression (455.74 KB) Tourette syndrome and learning (429.08 KB) Tourette syndrome and the future (556.76 [gosh.nhs.uk]
There is a high incidence of attention deficit hyperactivity disorder (ADHD) (60 percent), and obsessive-compulsive disorder (OCD), in this population. The neurophysiology of this syndrome is not yet known. [symptoma.com]
Eur Child Adolesc Psychiatry. 2011;20(4):155-71 Links: aetiology epidemiology clinical features diagnosis and differential management obsessive-compulsive disorder [gpnotebook.co.uk]
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]
- Impulsivity
Many with TS experience additional neurobehavioral problems, including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms, such as intrusive thoughts/worries and repetitive behaviors. [healthcare.utah.edu]
[…] other conditions depression impulse control disorders in adults (1,2) Reference: (1) Cavanna AE, Seri S.Tourette's syndrome. [gpnotebook.co.uk]
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]
- Compulsive Behavior
Obsessive-compulsive behavior, attention-deficit disorder, and other psychiatric disorders may be associated; coprolalia and echolalia rarely occur; autosomal dominant inheritance. [medical-dictionary.thefreedictionary.com]
The training can also be helpful for oppositional- defiant behavior, for conduct disorder, and for obsessive- compulsive behavior. [eegspectrum.com]
This unusual pattern suggests that the patient's compulsive behavior compromised both of his corneas and led to bilateral keratoconus. [ncbi.nlm.nih.gov]
While tic disorders and Tourette syndrome involve outbursts of simple movements or vocalizations, OCD consists of obsessive thoughts and compulsive behaviors. [healthychildren.org]
- Fear
The doubts, contamination, need for sameness, and superstitions factors were genetically related to OCD, but not ADHD or TS; symmetry/exactness and fear-of-harm were associated with TS and OCD while hoarding was associated with ADHD and OCD. [ncbi.nlm.nih.gov]
Obsessive-compulsive disorder involves such symptoms as obsessive thoughts (such as a highly exaggerated fear of germs) and compulsive behaviors (for example, excessive hand-washing in an attempt to reduce the fear of germs) that the child is unable to [healthychildren.org]
Typically, these are designed to reduce distress and/or to prevent a feared event. Tics are sudden repetitive stereotyped movements or phonic emissions that are usually seen as involuntary, and are sometimes preceded by urges. [iocdf.org]
Common non-OCD anxiety disorders include: separation anxiety (fear of separation from home or from individuals to whom one has a strong emotional attachment, such as parents) agoraphobia (a fear of being in places where it is hard to escape or where help [childneurologyfoundation.org]
[…] differences in expressivity between males and females: males are more likely to have full-blown TD or chronic tics, while females are more likely to have obsessive-compulsive disorder (OCD), an anxiety disorder in which a person has an unreasonable thought, fear [childrensnational.org]
- Obsessive Thoughts
In contrast to the common childhood “obsessions” with computer games or television, OCD-type obsessive thoughts and behaviors provide no pleasure and stem from no rational desire or motivation. [healthychildren.org]
He blinked obsessively, constantly cleared his throat, and often found himself shrugging his shoulders and rolling his eyes repetitively to relieve anxious thoughts. [well.blogs.nytimes.com]
View/Print Table TABLE 3 Problems Associated with Tourette's Syndrome and Percentage of Patients with These Problems Coprolalia (8 to 25%) Compulsive behaviors (30 to 50%) Obsessive thoughts (30%) Copropraxia (1 to 6%) Echophenomena (30 to 60%) Behavior [aafp.org]
Pathophysiologically, patients with -obsessive-compulsive disorder are thought to have a dysequilibrium of the cortico-striato-thalamocortical conduction pathways with a resultant absence of inhibition. [dx.doi.org]
Face, Head & Neck
- 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]
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]
Tarimas: /tʊˈrɛts/ tourette sindromas Paaiškinimas anglų kalba neurological disorder characterized by facial grimaces and tics and movements of the upper body and grunts and shouts and coprolalia A neuropsychological disorder related to alterations in [angluzodynas.lt]
For most, Tourette’s involves: tics, along a range of simple (e.g., 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 [parentcenterhub.org]
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]
Neurologic
- Hyperactivity
Many with TS experience additional neurobehavioral problems, including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms, such as intrusive thoughts/worries and repetitive behaviors. [healthcare.utah.edu]
[…] friends (243.88 KB) Resources for young people Introduction to Tourette syndrome (552.75 KB) Non-medical treatments for Tourette syndrome (556.55 KB) Tourette syndrome and explaining to other people (588.83 KB) Tourette syndrome and attention deficit hyperactivity [gosh.nhs.uk]
The pathophysiology of TS mainly involves dysfunction of basal ganglia-related circuits and hyperactive dopaminergic innervations. [ncbi.nlm.nih.gov]
- Vocal Tic
Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). [healthcare.utah.edu]
Vocal tics are actually manifestations of motor tics that involve the muscles required for vocalization. [medical-dictionary.thefreedictionary.com]
Tics can also involve movement (motor tics) or sounds (vocal tics). Motor tics usually begin before vocal tics do. But the spectrum of tics that people experience is diverse. [mayoclinic.org]
Tics that produce movement are called “motor tics,” while tics that produce sound are called “vocal tics” or “phonic tics.” Tics can be either simple or complex. [tourette.ca]
- Tic Disorder
Tic Classifications DSM-V Classification Provisional Tic Disorder Chronic Motor or Vocal Tic Disorder Tourette’s Disorder (Tourette syndrome) Substance-Induced Tic Disorder Tic Disorder Due to a General Medical Condition Tic Disorder, Not Otherwise Specified [childneurologyfoundation.org]
They are the defining feature of a group of childhood-onset, neurodevelopmental conditions known collectively as Tic Disorders and individually as Tourette Syndrome, Chronic Tic Disorder (Motor or Vocal Type), and Provisional Tic Disorder. [tourette.org]
Tourette's is at the more severe end of a spectrum of tic disorders. The tics often go unnoticed by casual observers. [en.wikipedia.org]
BACKGROUND: Few studies have investigated mortality risk in individuals with tic disorders. [ncbi.nlm.nih.gov]
- Coprolalia
Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face or vocal tics including coprolalia (uttering swear words) or echolalia (repeating the words or phrases of others). [healthcare.utah.edu]
Coprolalia and echolalia rarely occur. [medical-dictionary.thefreedictionary.com]
Coprolalia (see below) does not have to be exclusively swear words. [tourette13.tripod.com]
Coprolalia is one of the most distressing symptoms in Gilles de la Tourette syndrome. [ncbi.nlm.nih.gov]
- Grunting
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]
A master at concealing twitches, tics, grunts and barks, Brian Conaghan couldn't keep his wife in the dark about his Tourette's forever... I agonised over telling her. For over a year I agonised. [telegraph.co.uk]
Head jerking Repeating observed movements Shoulder shrugging Stepping in a certain pattern Eye darting Obscene gesturing Nose twitching Bending or twisting Mouth movements Hopping Common vocal tics seen in Tourette syndrome Simple tics Complex tics Grunting [mayoclinic.org]
Other vocalizations that may occur include grunts, barks, hisses, whistles, and other meaningless sounds. Motor tics may be simple actions that are virtually unnoticeable. [britannica.com]
These are: Simple – a milder version, including tics (such as blinking, sniffing, shrugging and grimacing) and vocalisations (such as grunting and clearing the throat) Complex – a more severe version, including jumping, spinning in circles and compulsively [betterhealth.vic.gov.au]
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].
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].
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
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
- Kurlan R. Clinical practice. Tourette's Syndrome. N Engl J Med 2010; 363:2332.
- Devor EJ. Untying the gordian knot: the genetics of Tourette syndrome. J Nerv Ment Dis. Nov 1990;178(11):669-79
- Pauls DL. Issues in genetic linkage studies of Tourette syndrome. Phenotypic spectrum and genetic model parameters. Adv Neurol. 1992;58:151-7
- 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.
- 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
- 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
- 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
- Abelson JF, Kwan KY, O'Roak BJ, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 2005; 310:317.
- American Psychiatric Association. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 4th ed, Text Revision. Washington, DC: American Psychiatric Association; 2000.
- Leckman JF, Zhang H, Vitale A, et al. Course of tic severity in Tourette syndrome: the first two decades. Pediatrics 1998; 102:14.
- Bockner S. Gilles de la Tourette's disease. J Ment Sci. Oct 1959;105:1078-81