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Scream_and_shout

Image: “scream and shout” by Mindaugas Danys. License: CC BY-SA 2.0


Definition of Tics and Tourette Syndrome

Tics represent a neurobehavioral disorder of childhood that is characterized by sudden, repeated, nonrhythmic, muscle movements that are accompanied by sounds or vocalizations. Tourette syndrome represents the same symptoms and lasts for more than one year. The activities do not interfere with a child’s intended activities or self-image.

Epidemiology of Tics and Tourette Syndrome

Tics affect 20% of children worldwide, many of whom are not diagnosed or treated. The severe form (Tourette syndrome) affects 3—8 per 1000 children.
The disease has a slight male predilection, with a male to female ratio of 3:1.
The disease takes a typical variation, mainly affecting children aged 4—9 years. The condition improves as the patient grows older; in most cases, it disappears in adulthood. The average age of onset of symptoms is 7.8 years. More than half of children suffering from tics and related disorders will go on to lead a healthy adult life.

Tourette syndrome is commonly associated with other comorbidities, such as obsessive-compulsive disorder, depression, anxiety, attention-deficit/hyperactivity disorder, and self-injury. The strong association with obsessive-compulsive disorder intrigued physicians and surgeons since it indicated deep brain stimulation might be helpful for both conditions.

Etiology and Pathophysiology of Tics and Tourette Syndrome

The exact cause is unknown, but several theories have been put forward to explain the cause of the disease.

Idiopathic theory

In most cases, the cause is unknown, and there is no exhaustive explanation of the disease pathogenesis.

Genetic influence theory

Tics may arise from a genetic mutation with a developmental period. This theory is supported by the fact that there is a 45% chance that a couple with tics or its variant will give birth to a child with any tic or variant and a 15% chance of developing Tourette syndrome. This idea was put forward by Georges Gilles la Tourette in 1800, who suggested a dominant autoimmune pattern with incomplete penetrance of inheritance.

Autoimmune theory

Some tics are preceded by an infection with group A β hemolytic streptococci. Therefore, it is now referred to as a pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS). Other associated infections include herpes simplex virus infection, HIV, mycoplasma pneumonia, and Varicella-Zoster Virus.

Neurobiological theory

The disease is thought to be a disorder of the fibers that pass from the frontal cortex to the deeper areas of the brain. This pathway is known as the cortical-striatal-thalamocortical pathway (CSTC). Pathology in this pathway causes manifestations of tics/Tourette syndrome. Multiple neurotransmitters, such as dopamine, GABA, glutamate, serotonin, and acetylcholine, are incriminated in the disease’s causative pathway. The most characterized one is dopamine since patients improve after receiving neuroleptics.

The International Deep Brain Stimulation Database and Registry was launched in 2012. One of the goals of this database was to pool data and identify novel pathophysiologic mechanisms and new therapeutic targets in Tourette syndrome. The centromedian thalamic region, anterior globus pallidus internus, posterior globus pallidus internus, and the anterior limb of the internal capsule were the most common deep brain stimulation targets in Tourette syndrome. Accordingly, these brain regions are responsible for the motor and phonic symptoms of Tourette syndrome.

Clinical features of Tics and Tourette Syndrome

  1. Simple tics: represents a brief movement or vocalization with no social meaning
  2. Complex tics: tics that involve more muscle groups and may have social meaning
  3. Predominantly motor or sensory form, as summarized below
Motor Tics Sensory Tics
Simple Tics
  • Eye blinking
  • Eye rolling
  • Limb and head jerking
  • Grimacing
  • Shoulder shrugging
  • Throat clearing
  • Whistling
  • Coughs
  • Grunting
  • Animal sounds
Complex Tics
  • Jumping
  • Touching objects and other people
  • Copropraxia
  • Echopraxia
  • Coprolalia
  • Echolalia

Other tic characteristics

Fluctuating course

The tics have a waxing and waning pattern. They are more prominent when the patient is resting, concentrating, or emotionally pleased and less prominent when the patient is engaged in an activity. They are always absent during sleep. Tics are exacerbated by periods of anticipation, emotional upset (e.g., stress, anxiety, excitement, anger), or fatigue.

Presence in typical locations

The most common first symptom is a facial tic (eye blink, nose twitch, and grimace), and they almost always involve the head and neck region. Some tics may appear to have a social meaning and may be mistaken for normal function.

Voluntary suppressibility

The patient may voluntarily suppress his or her tic. However, it is often associated with a build-up of inner tension that resolves when the tic is permitted to occur.

Premonitory sensations

Premonitory sensations are sensory phenomena that occur before a motor or phonic tic and take the form of an urge, impulse, tension, pressure, itch, or tingle. Premonitory sensations are more common in adults.

Clinical features of associated conditions

Attention deficit hyperactivity disorder(ADHD) patients present with inattentiveness, hyperactivity, and impulsiveness.

Obsessive-compulsive (OCD) disorder

Obsessive-compulsive disorder (OCD) patients present with preoccupation, multiple obsessional thoughts, and compulsions that interfere with normal activity.
Patients with concurrent anxiety have extreme worry and tension.

Classification of Tics and Tourette Syndrome

According to the diagnostic and statistical manual of mental illnesses, tic disorders can be classified into:

  • Provisional tic disorder
  • Chronic tic disorder
  • Tourette syndrome
  • Substance-induced tic disorder
  • Tic disorder due to general medical condition
  • Tic disorder otherwise non-specified

Investigations of Tics and Tourette Syndrome

The diagnosis of tics is usually clinical with the identification of specific tic phenomenology and their classification. However, some tests are carried out to rule out the differential diagnoses and for research purposes of characterizing the disease further.

To characterize a finding as a tic, it must meet the DSM V criteria that provide for:

  • Involuntary, sudden, unprovoked, repetitive, and nonrhythmic movements or vocalizations
  • No other etiologies such as drug and substance abuse
  • Symptoms lasting longer than one year indicate Tourette syndrome

Tic phenomenology

Simple motor tics are movements that involve a single muscle or one muscle group. Simple vocal tics include grunts, barks, and hoots.

Complex vocal tics are vocalizations that involve repetition of words of other people such as:

  • Echolalia: repetition of words said by others
  • Palilalia: repetition of one’s own words
  • Coprolalia: use of obscene words in public
  • Copropraxia: making obscene gestures in public or touching genitals
  • Echopraxia: imitating the gestures of others

The table below presents the tests to rule out differential diagnoses.

Test Findings
Functional MRI Used in the research of tics and Tourette syndrome to demonstrate brain function during the occurrence of tics. Shows reduced caudate volumes.
CT Scan Has been employed in investigating any abnormalities and may show reduced caudate volumes.
EEG Needed in the study of tics in the sleep period to ascertain the nature of brain activity during an occurrence.
PET Scan Shows increased brain activity in the areas involved, such as thalamus and striatum.
Blood workups Are needed before the administration of certain medications and necessary to rule out chronic diseases.

Differential Diagnosis of Tics and Tourette Syndrome

Diagnostic considerations in tic diseases should include:

  • Anxiety disorders
  • ADHD
  • Autism
  • Drug and substance abuse (cocaine toxicity)
  • Obsessive compulsion disorder(OCD)
  • Huntington disease dementia

Management of Tics and Tourette Syndrome

Treatment is only needed when the disease interferes with the child’s image, social activity, or education. There are several available options.

Cognitive-behavioral therapy (CBT)

This option involves a series of psychological interventions known as Comprehensive Behavioral Intervention for Tics (CBT) is a combination of the following elements:

Habit Reversal Therapy (HRT)

The first stage of HRT is tic description and characterization, such as where they occur in the body, which muscles are involved, and the associated premonitory signs that indicate a tic episode is likely to occur. The next stage is finding a competing response, which, when employed, reduces the chances of occurrence.

Education about tics

Teaching about Tic Disorders and Tourette syndrome should be taught to the affected persons and the people who take care of the patient. The information that is typically included in psychoeducation is:

  • Understanding the causes
  • Understanding tics as a neurobehavioral disease
  • Understanding the course of the disease and the co-occurring conditions that often occur in individuals with Tourette syndrome

The knowledge helps to cope with having a tic disorder and makes it easier for helpers or teachers to handle these patients.

Social Support and Reward System

The Presence of educated and willing caregivers helps to reduce the associated psychiatric conditions such as depression and anxiety that result from social detachment of the patient.

Functional Intervention

This involves the identification of environmental events that make tics worse or maintain tics for an individual. It may include reactions to situations, thoughts, or feelings that a person has in a place. This can be done with help from a trained therapist who can also offer strategies for alternative management of the tics.

Relaxation Training

Relaxation is used to reduce stress, which could be a likely trigger to the worsening of tics. Relaxation has been shown to reduce the frequency of occurrence of the tics.

Pharmacological therapy/antipsychotics

Examples of medications in use include clonidine, risperidone, haloperidol, and olanzapine. A dopamine receptor antagonist has been widely used with improvement due to the associated neurobiology of the disease.

Deep brain stimulation (DBS)

This involves the implantation of electrodes and passage of stimulatory current to selected areas of the brain whose increased activity is likely to give tics. These regions include the thalamus and Globus pallidus. The efficacy of deep brain stimulation is the same after the stimulation of the four brain-region targets mentioned before. The adverse events associated with deep brain stimulation can be classified as device-related, surgery-related, and stimulation-related.

  • Device-related adverse-events include the implantation of the electrodes outside the target region or the removal of the pulse generator. This is reported in 2% of the patients undergoing DBS.
  • The most common surgery-related adverse-events are infections (3%) and hemorrhages (1%).
  • The stimulation-related adverse-events are plenty. They include bradykinesia, depression, dysarthria, paresthesias, lethargy, and nausea or vertigo. The most common adverse events that the patient should be warned about are dysarthria, nausea, and paresthesias.

Other interventions

Yoga, meditation, nutritional therapy, and hypnotherapy have been tried in the management of tics and Tourette syndrome, with some level of success reported.

Treatment of comorbid conditions

ADHD is treated with low dose stimulants and monitoring for tics. This is done together with classroom and social accommodation, such as offering extra time to complete tasks or tutorials for the affected children.

Administration of antidepressants, such as SSRIs (fluoxetine and clomipramine), treats OCD.
Anxiety and behavioral conditions are treated only when they can fit in the DSM diagnostic criteria.

Prognosis of Tics and Tourette Syndrome

Tics have a defined course; typically, children are diagnosed at 9—13 years. The disease progresses to full expression in the adolescent period, where the symptoms begin normalizing. The patient’s clinical condition improves during the teenage years. Less than half will have residual disease in adulthood.

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