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Tourette Syndrome

BASICS

DESCRIPTION

Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder characterized by the presence of multiple motor and at least one phonic tic.
Tics are sudden, brief, repetitive, stereotyped motor movements (motor tics) or sounds (phonic tics) produced by moving air through the nose, mouth, or throat.
Patients can suppress their tics, but this causes inner tension that eventually results in more forceful tics.

EPIDEMIOLOGY

Average age of onset: 7 years (peak severity: 10–12 years)
Male > Female (3:1)
More common in non-Hispanic whites (2:1)

Prevalence:
- Overall: 0.77%
- Boys: 1.06%
- Girls: 0.25%

ETIOLOGY AND PATHOPHYSIOLOGY

  • Abnormalities in dopamine neurotransmission and receptor hypersensitivity (especially in ventral striatum)
  • Dysfunction in basal ganglia-thalamocortical circuits β†’ decreased inhibitory output β†’ motor cortex imbalance
  • Genetic, social, and environmental interactions
  • PANDAS: Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus

Genetics: - Familial history of tics/OCD common
- Polygenic inheritance (e.g., loci on 17q, SLITRK1 on 13q)

RISK FACTORS

  • Family risk: 9.8–15%
  • Perinatal: Low birth weight, maternal stress, first trimester nausea/vomiting, maternal smoking

COMMONLY ASSOCIATED CONDITIONS

  • OCD (28–67%)
  • ADHD (50–60%)
  • Conduct disorder, learning disabilities (23%)
  • Anxiety, depression, phobias, panic attacks, stuttering, suicide risk
  • Visual perception impairments, sleep disorders, restless leg syndrome, migraines
  • Cardiometabolic risk: obesity, circulatory disorders, type 2 diabetes (50%)

DIAGNOSIS

HISTORY

Diagnosis based on clinical observation of tics and coexisting disorders

PHYSICAL EXAM

  • Generally normal exam
  • Presence of motor and vocal tics
  • Motor tics: facial grimacing, blinking, neck jerks, etc.
  • Vocal tics: grunting, throat clearing, barking, etc.
  • Exacerbated by anticipation, stress, or fatigue
  • May subside during concentration or sleep

DSM-5 criteria: - Multiple motor tics and β‰₯1 vocal tic present at some time (not necessarily concurrently) - Persisted >1 year - Onset before age 18 - Not due to other conditions (e.g., Huntington, encephalitis)

DIFFERENTIAL DIAGNOSIS

  • Chorea, Huntington disease, myoclonus, seizure, stroke
  • Essential tremor, dementia, Wilson disease, MS
  • Postviral causes, toxin exposure (CO, cocaine)
  • Drug-induced movements

DIAGNOSTIC TESTS & INTERPRETATION

  • TSH (rule out hyperthyroidism-related tics)
  • EEG (nonspecific)
  • Imaging: Smaller caudate, increased striatal dopaminergic terminals

TREATMENT

GENERAL MEASURES

  • Focus: Improve functioning, self-esteem, and QOL
  • Patient education: tics are not voluntary
  • Watchful waiting for patients without impairment
  • Use tic severity scales (e.g., Yale Global Tic Severity Scale)

CBIT (Comprehensive Behavioral Intervention for Tics): - Habit reversal, relaxation training, functional intervention - More effective than psychoeducation alone

PHARMACOTHERAPY

Monotherapy preferred; periodically reevaluate necessity

Antipsychotics

Atypical: - Risperidone: 0.25 mg BID β†’ up to 4 mg/day
- Olanzapine: 2.5–5 mg/day β†’ up to 20 mg
- Quetiapine, Ziprasidone, Aripiprazole

Typical (more EPS): - Haloperidol, Pimozide, Fluphenazine
- ECG monitoring required for some (QTc risk)

Ξ±2-Agonists (esp. for comorbid ADHD):

  • Clonidine: 0.1–0.3 mg/day (BID-TID)
  • Guanfacine: 1–3 mg/day
  • Less sedating

Others:

  • Topiramate, Tetrabenazine, Baclofen, VMAT2 inhibitors
  • Ecopipam (D1 antagonist)

TREATMENT OF COMORBID CONDITIONS

ADHD

  • Stimulants: Methylphenidate, Dextroamphetamine
  • Ξ±2-Agonists, Atomoxetine, Desipramine

OCD

  • SSRIs (first-line)
  • Clomipramine (if refractory or partial response)
  • Watch for QT prolongation

ADDITIONAL THERAPIES

  • Botulinum toxin for focal motor/vocal tics
  • Habit-reversal therapy
  • Surgery: DBS or thalamic ablation (only for severe, refractory cases)

COMPLEMENTARY & ALTERNATIVE

  • CBIT, hypnotherapy, biofeedback, acupuncture
  • Cannabinoids (insufficient evidence)
  • Physical exercise

ONGOING CARE

  • Monitor for psychiatric comorbidities, suicidality

Patient Education

PROGNOSIS

  • Improvement in 60–75% by adulthood
  • Tics stabilize by ~25 years
  • 10–40% may achieve full remission

REFERENCES

Full citation list retained from source notes. (Pringsheim T et al., Neurology 2019; Brander G et al., JAMA Neurol 2019; etc.)

Codes

ICD10: F95.2 β€” Tourette's Disorder

CLINICAL PEARLS

  • Diagnosis is clinical; use videos from parents if tics not visible during visit
  • Stimulants can be used in ADHD despite tics
  • Many patients need only education, not medication