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Paeds SAQsneurology-neurodisability-and-neuromuscular

Paeds SAQs · neurology-neurodisability-and-neuromuscular

Tics and Tourette syndrome: SAQ

Short-answer questions on tics and Tourette syndrome covering the DSM-5 diagnosis and the phenomenology that separates a tic from its mimics, the stepped management built on Comprehensive Behavioural Intervention for Tics with alpha-2 agonists and antipsychotics, and the central role of the comorbid attention-deficit or hyperactivity disorder and obsessive-compulsive disorder.

20 marks30 min3 min readVerification in progress

Target exams

RACP DWEMRCPCH TheoryABP General Pediatrics
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Study tools

Target exams

RACP DWEMRCPCH TheoryABP General Pediatrics
Prompt
A previously well 9-year-old boy is referred for movements noticed over the last 18 months. He blinks, grimaces, shrugs his shoulders, and clears his throat repeatedly. The movements come and go over weeks, shift from one body part to another, and his parents describe a mounting tension in him that is relieved only by performing the movement. He can hold the movements off briefly but they burst back afterwards. He is falling behind at school, his teacher reports he is inattentive and restless, and his mother describes nightly checking rituals that distress him. His father had childhood tics. His general and neurological examination is normal.

Question 1 (10 marks)

Outline how you would confirm the diagnosis in this child, the features that distinguish his movements from mimics, and the investigation you would perform. (10 marks)

[2]

Model answer

Diagnosis (4 marks). The child has Tourette disorder by DSM-5 criteria. He has multiple motor tics (eye-blinking, grimacing, shoulder-shrugging) plus at least one vocal tic (throat-clearing), present for over one year (18 months), with onset before age 18, in the absence of a substance or medical cause. Motor and vocal tics need not occur at the same time, and coprolalia is not required. The diagnosis is entirely clinical, made on the history and on home video, and the family history of paternal childhood tics supports it. [2]

Phenomenology distinguishing a tic from mimics (4 marks). The defining features that separate his tics from stereotypies and other movement disorders are the premonitory urge, the mounting tension relieved only by the movement, the brief suppressibility with rebound, and the waxing-and-waning, body-shifting course. A stereotypy, by contrast, is rhythmic, fixed, and purposeful-appearing and lacks the urge and suppressibility. The inattentive restlessness he shows at school is the motor restlessness of comorbid attention-deficit or hyperactivity disorder, which is a separate phenomenon from his discrete tics and which coexists in about 60 per cent of children with Tourette. [2] [6]

Investigation (2 marks). No routine blood test, scan, or electroencephalogram is indicated for a child with a typical history and a normal examination; the diagnosis is clinical and over-investigation causes harm. I would request home video to confirm the movements in their natural setting and would grade severity clinically, reserving any targeted test for an atypical feature such as a focal deficit, regression, or a fixed rather than fluctuating course. [2]

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References5ShowHide
  1. [1]Piacentini J, Woods DW, Scahill L, et al Behavior therapy for children with Tourette disorder: a randomized controlled trial. JAMA, 2010.PMID 20483969
  2. [2]Pringsheim T, Okun MS, Müller-Vahl K, et al. Practice guideline recommendations summary: Treatment of tics in people with Tourette syndrome and chronic tic disorders. Neurology, 2019.PMID 31061208
  3. [5]Roessner V, Eichele H, Stern JS, et al European clinical guidelines for Tourette syndrome and other tic disorders-version 2.0. Part III: pharmacological treatment. Eur Child Adolesc Psychiatry, 2022.PMID 34757514
  4. [6]Hirschtritt ME, Lee PC, Pauls DL, et al Lifetime prevalence, age of risk, and genetic relationships of comorbid psychiatric disorders in Tourette syndrome. JAMA Psychiatry, 2015.PMID 25671412
  5. [11]Bloch MH, Peterson BS, Scahill L, et al Adulthood outcome of tic and obsessive-compulsive symptom severity in children with Tourette syndrome. Arch Pediatr Adolesc Med, 2006.PMID 16389213
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