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Updated: Dec 27 2021

Tourette Syndrome

  • Snapshot
    • A 6-year-old boy is brought to the pediatrician by his mother due to noticing him "acting strange." She reports that the patient would jerk his head rapidly and sniff a considerable amount of times per day for over a year. The jerking and sniffing episodes would begin and end abruptly, and the frequency would increase during periods of increased stress. She notices the patient trying to suppress these sniffing episodes and jerking movements, and appears relieved after they occur. Neurologic exam is normal besides the neck jerking and sniffing.
  • Introduction
    • Clinical definition
      • a chronic neurologic disorder that manifests with motor and vocal tics
  • Epidemiology
    • Incidence
      • variable
    • Demographics
      • more common in males (4:1)
      • mean age of tic onset is approximately 5.6 years of age
    • Pathogenesis
      • the mechanism of disease is unclear; however, it is believed to be due to a complex interaction between genetic, environmental, and social factors resulting in
        • an abnormality in the mesolimbic spinal system
    • Genetics
      • inheritance pattern
        • unclear
      • mutations
        • there are several genes that may be associated with Tourette syndrome (TS)
    • Associated conditions
      • approximately 90% of patients have a comorbid psychiatric disorder such as
        • attention deficit hyperactivity disorder (~60% of cases)
        • obsessive-compulsive disorder (~27% of cases)
  • Presentation
    • Symptoms and physical exam
      • tics (hallmark of TS)
        • have a sudden onset and of brief duration that can be
          • motor (e.g., eye blinking, body gyrations, and head jerking)
          • vocal (e.g., simple noises, coprolalia, and palilalia)
        • waxing and waning nature
        • urge before the tic that is relieved after the tic
      • neurologic exam is typically normal besides for tics
  • Differential
    • Transient motor and phonic tics which lasts
      • < 1 year
    • Myoclonus
    • Dystonia
    • Chorea
    • Stereotypies
    • Spasmus nutans
      • key distinguishing factor
        • congenital horizontal, vertical, or rotary nystagmus
          • compensatory head bobbing and torticollis
          • often confused with a behavioral disorder/Tourette syndroe
    • Diagnostic criteria
      • according to the DSM V
        • both multiple motor and ≥ 1 vocal tic
          • this does not necessarily have to occur concurrently
        • tics persist ≥ 1 year since first tic
          • tics may wax and wane in frequency
        • tic begin at < 18 years of age
        • the tics are not due to other causes (e.g., substance use and medical conditions such as Huntington's disease)
  • Treatment
    • Conservative
      • behavioral therapy
        • indication
          • can be considered in patients with TS who have moderate tics, tics that cause impairment, or when comorbid psychiatric conditions that respond to behavioral therapy are present
        • modalities
          • habit reversal training
    • Medical
      • tetrabenazine
        • indication
          • used for the pharmacologic treatment of TS
      • α-2 adrenergic agonists
        • medications
          • clonidine
          • guanfacine
        • indication
          • used for the pharmacologic treatment of TS
      • antipsychotics
        • medications
          • risperidone
          • olanzapine
          • quetiapine
          • ziprasidone
          • aripiprazole
          • haloperidol
          • pimozide
        • indication
          • used for the pharmacologic treatment of TS
    • Operative
      • deep brain stimulation
        • indication
          • can be considered in patients with TS who are refractory to optimal medical therapy; however,
            • larger clinical trial are needed
  • Complications
    • A reduction in quality of life
    • May develop depression
  • Prognosis
    • Tics typically decline during adolescence and may
      • resolve around 18 years of age (~50% of children)
    • Tics may persist into adulthood but their severity can decline over time
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