Overview
Definition:
Tourette Disorder (TD) is a complex neurodevelopmental disorder characterized by the presence of multiple motor tics and at least one vocal tic that have been present for more than a year
Tics are sudden, rapid, recurrent, nonrhythmic motor movements or vocalizations
While TD is a spectrum, many individuals experience milder forms that may not require significant intervention.
Epidemiology:
The prevalence of Tourette Syndrome in children is estimated to be between 0.3% and 1%, with males being affected more frequently than females
Tics can begin in early childhood, typically between ages 3 and 9 years
About 20-30% of children with tics will have a chronic form that persists into adulthood.
Clinical Significance:
Understanding the management of tics and TD is crucial for pediatricians as it impacts a child's social, academic, and emotional well-being
Early identification and appropriate intervention, including behavioral therapies and judicious use of medications, can significantly improve quality of life and prevent secondary complications like bullying or social isolation.
Clinical Presentation
Symptoms:
Sudden, involuntary, repetitive motor movements (e.g., eye blinking, head jerking, shoulder shrugging)
Sudden, involuntary, repetitive vocalizations (e.g., grunting, throat clearing, barking, uttering words or phrases)
Pre-monitory urges, a sensory experience preceding a tic (e.g., itching, crawling sensation)
Tics can wax and wane in frequency, intensity, and type.
Signs:
Observed motor or vocal tics during physical examination
Assessment of tic complexity (simple vs
complex)
Observation for associated behaviors like coprolalia (involuntary swearing), echolalia (repeating others' words), or palilalia (repeating one's own words)
Documenting the presence and nature of premonitory urges.
Diagnostic Criteria:
Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria for Tourette Disorder: Multiple motor tics AND at least one vocal tic for >1 year
onset before age 18 years
not attributable to the physiological effects of a substance or another medical condition
Persistent (Chronic) Motor or Vocal Tic Disorder requires only motor or vocal tics, respectively, for >1 year.
Diagnostic Approach
History Taking:
Detailed history of tic onset, progression, types of tics (motor/vocal, simple/complex), premonitory urges, and exacerbating/alleviating factors
Assess for comorbidities like ADHD, OCD, anxiety, and learning disabilities
Inquire about family history of tics or Tourette Disorder
Rule out secondary causes of tics.
Physical Examination:
Thorough neurological examination to rule out other neurological deficits
Observe for tics during the examination
Detailed assessment of motor skills and coordination
General physical examination to exclude underlying medical conditions.
Investigations:
Typically, no specific laboratory or imaging investigations are required for diagnosis of Tourette Disorder, as the diagnosis is primarily clinical
Investigations may be considered if there is suspicion of an underlying neurological condition (e.g., encephalitis, metabolic disorders) or if tics are unusually severe or have an atypical presentation
Consider neuroimaging (MRI brain) if there are focal neurological signs or suspicion of structural brain lesions.
Differential Diagnosis:
Other tic disorders (Persistent Motor Tic Disorder, Persistent Vocal Tic Disorder)
Stereotypies
Myoclonus
Chorea
Seizure disorders
Obsessive-Compulsive Disorder (OCD)
Attention-Deficit/Hyperactivity Disorder (ADHD)
Tourette-like symptoms due to medication (e.g., stimulants) or substance use
Sydenham's chorea
Wilson's disease.
Management
Initial Management:
Psychoeducation for the child and family regarding the nature of Tourette Disorder
Reassurance that tics are not under voluntary control and are not a sign of poor parenting
Focus on managing tics that cause significant distress, functional impairment, or social stigma
Observe if tics are mild and not bothersome.
Habit Reversal Training:
A first-line behavioral intervention for tics
It involves two main components: 1
Awareness Training: Recognizing premonitory urges and tic precursors
2
Competing Response Training: Practicing a voluntary motor or vocal behavior that is physically incompatible with the tic, to be performed when the premonitory urge arises
Often augmented with relaxation techniques and social support
Efficacy demonstrated in numerous studies, comparable to some medications for moderate tics.
Medical Management:
Pharmacological treatment is considered when tics are severe, cause significant functional impairment, or are associated with distress and social difficulties that are not adequately managed by behavioral interventions
Start with the lowest effective dose
Dopamine receptor blocking agents are the mainstay: Haloperidol (adult dose 0.5-2 mg/day divided doses
pediatric dose 0.01-0.05 mg/kg/day divided)
Risperidone (adult dose 0.5-2 mg/day
pediatric dose 0.01-0.03 mg/kg/day)
Pimozide (adult dose 1-4 mg/day
pediatric dose 0.05-0.1 mg/kg/day)
Alpha-2 adrenergic agonists (e.g., Clonidine, Guanfacine) can be effective for tics and also for associated ADHD symptoms
Other agents like antipsychotics (e.g., Aripiprazole) or antidepressants (for comorbid OCD/anxiety) may be used
Careful monitoring for side effects is essential.
Supportive Care:
Addressing comorbidities (ADHD, OCD, anxiety) with appropriate treatments
School accommodations and support to minimize academic and social impact
Promoting a supportive home environment
Encouraging participation in activities that build self-esteem
Regular follow-up to monitor tic severity, treatment effectiveness, and side effects.
Complications
Early Complications:
Social stigma and bullying
Academic difficulties due to distraction from tics
Injury from repetitive tics (e.g., wrist abrasions, neck strain)
Sleep disturbances related to tics or anxiety.
Late Complications:
Chronic social isolation
Development of comorbid psychiatric conditions (e.g., depression, severe anxiety)
Persistent functional impairment impacting career or relationships
Development of motor sequence tics that can be more disruptive.
Prevention Strategies:
Early intervention with behavioral therapy (HRT)
Comprehensive psychoeducation for family, teachers, and peers
Proactive management of comorbid conditions
Creating an inclusive and supportive environment for the child.
Prognosis
Factors Affecting Prognosis:
Severity and type of tics at onset
Presence and severity of comorbidities (ADHD, OCD)
Family support and understanding
Effectiveness of early interventions (behavioral and pharmacological).
Outcomes:
Many children experience a significant reduction or remission of tics during adolescence
However, for a subset of individuals, tics persist into adulthood
With appropriate management, individuals can lead fulfilling lives, though tics may remain a lifelong challenge for some
Focus on functional outcomes and quality of life rather than complete tic suppression.
Follow Up:
Regular follow-up is crucial, especially during periods of tic exacerbation or when initiating/adjusting medications
The frequency of follow-up depends on the severity of tics, presence of comorbidities, and treatment response
Aim for periodic reassessments at least annually in stable cases
Monitor for emerging comorbidities and the impact of tics on daily functioning.
Key Points
Exam Focus:
DSM-5 criteria for Tourette Disorder
Differentiate between simple and complex tics
Recognize premonitory urges
First-line management for bothersome tics is Habit Reversal Training (HRT)
Pharmacological options when HRT is insufficient or tics are severe: Dopamine blockers (Haloperidol, Risperidone) or alpha-2 agonists (Clonidine)
Management of comorbidities (ADHD, OCD) is critical.
Clinical Pearls:
Always ask about premonitory urges as they are key to HRT
Start behavioral therapy before medication if possible for mild to moderate tics
Remember that medication aims to reduce tic severity and impact, not necessarily eliminate them completely
Be vigilant for medication side effects, especially with antipsychotics
Consider the impact of tics on school and social life, and advocate for accommodations.
Common Mistakes:
Misdiagnosing tics as behavioral issues or deliberate misbehavior
Over-reliance on medication without considering behavioral interventions
Underestimating the impact of comorbidities on overall functioning
Prescribing medication without adequate monitoring for side effects
Failing to involve family and school in the management plan.