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Updated: Oct 12 2021

Tourette Syndrome

  • Snapshot
    • An 9-year-old boy is brought by his parents to the pediatrician due to concerns about his behavior in the past year. His teacher has complained in several parent-teacher conferences that their child has frequently disrupted quiet reading hours with episodes of grunting and getting out of his seat to jump. The parents note that these behaviors are similar to what they have observed at home as well. The boy had a period of 2 months where he did not show any of these behaviors, leading his parents to believe that he had moved past his "phase", but recently, the repetitive grunting and jumping behaviors have resurfaced.
  • Introduction
    • Overview
      • Tourette syndrome is a neuropsychiatric disorder with an onset before age 18 that is characterized by motor and vocal tics for >1 year
        • tics are sudden, rapid, recurrent, and nonrhythmic
        • tics may wax and wane in frequency
    • Epidemiology
      • incidence
        • ~3 cases per 1,000 people
      • demographics
        • male:female ratio is 5:1
        • most common age for tic onset is 9-14 years
    • Pathophysiology
      • remains unknown, but the basal ganglia and inferior frontal cortex have been implicated in the pathophysiology of Tourette syndrome
    • Genetics
      • majority of cases are familial
        • prevalence in first-degree relatives is 10 times the prevalence in the general population
    • Associated conditions
      • obsessive-compulsive disorder
      • ADHD
    • Prognosis
      • about half of patients are free of tics by age 18 years
        • severity of tics peaks in early-to-mid adolescence and diminishes afterwards
  • Presentation
    • Symptoms
      • multiple motor and vocal tics that occur many times a day every day or intermittently for > 1 year
        • simple motor
          • blinking, nose sniffing, neck twitching, or jerking/posturing of extremities
        • complex motor
          • hitting, jumping, shaking, touching, or performing a motor task
        • simple vocal
          • grunting, coughing, or throat clearing
        • complex vocal
          • words or phrases
            • coprolalia (obscene speech) seen in only a minority of patients
  • Studies
    • No further workup is necessary if typical indications of Tourette syndrome are observed in the patient's history
  • Differential
    • Wilson disease
      • key distinguishing factor
        • Kayser-Fleischer rings observed on slit lamp examination, along with other clinical features of Wilson disease
  • Treatment
    • Lifestyle
      • education and counseling about tics
        • indication
          • mild and non-disabling tics
      • habit reversal training
        • indication
          • tics that cause psychosocial, physical, functional, or other problems
    • Medical
      • antidopaminergic drugs (i.e., haloperidol, pimozide, or aripiprazole)
        • indications
          • complex or multiple tics
      • α2 agonists (i.e., clonidine and guanfacine)
        • indications
          • patients with Tourette syndrome who also have attention deficit hyperactivity disorder (ADHD)
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