Epidemiology

  • Onset age < 18 (commonly age 6-15)

Etiology

  • Associated conditions

Pathophysiology

  • Exact mechanism unknown; strong genetic component (highly heritable).
  • Involves dysregulation of the cortico-striato-thalamo-cortical circuitry.
  • Excess dopaminergic transmission in the basal ganglia (caudate nucleus). t
  • Associated with disinhibition of the motor and limbic system loops.

Clinical features

  • Tics: sudden and rapid involuntary, intermittent, nonrhythmic movements or vocalizations without any recognizable purpose
    • May wax and wane in frequency
    • Temporarily suppressible
    • Premonitory urge: An urge or sensation preceding the tic is relieved by its onset.
    • Both multiple motor tics & ≥1 vocal tics (not necessarily concurrent) >1 year
      • Motor: facial grimacing, blinking, head/neck jerking, shoulder shrugging, tongue protrusion, sniffing
      • Vocal: grunting, snorting, throat clearing, barking, yelling, coprolalia (obscenities)

Diagnostics

DDx

  • Stereotypic movement disorder
    • Characterized by simple repetitive movements (eg, rocking, head banging), which are voluntary in nature and seemingly purposeless.
    • They are often seen in children with autism spectrum disorders and intellectual disability and are a common form of self-soothing.

Treatment

  • Mild / Non-impairing:
    • Psychoeducation, watchful waiting, behavioral support, and classroom accommodations.
  • First-Line / Behavioral Therapy (Mild-to-Moderate Impairment):
    • Comprehensive Behavioral Intervention for Tics (CBIT) / Habit Reversal Therapy (HRT).
  • First-Line Pharmacotherapy (Preferred initial med):
    • Alpha-2 adrenergic agonists: Guanfacine or Clonidine (preferred first-line due to low side-effect profile; especially effective if comorbid ADHD).
  • Second-Line Pharmacotherapy (Moderate-to-Severe Impairment):
    • Second-Generation Antipsychotics (SGAs): Aripiprazole (FDA-approved), Risperidone.
    • VMAT2 Inhibitors: Tetrabenazine, Deutetrabenazine, Valbenazine. c
      • Vesicular monoamine transporter type 2 (VMAT2) inhibitors function as dopamine depleters
  • Refractory / Severe Cases:
    • First-Generation Antipsychotics (FGAs): Haloperidol, Pimozide (FDA-approved; limited by risk of EPS, tardive dyskinesia, and QTc prolongation).
    • Deep Brain Stimulation (DBS): Reserved for severe, medically refractory adult cases.