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Inner ear dysplasia is common in children with Down syndrome (trisomy 21)

Susan Blaser1, Evan J Propst, Daniel Martin

  • 1Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. susan.blaser@sickkids.ca

The Laryngoscope
|December 6, 2006
PubMed

Insights

Inner ear anomalies, including hypoplasia and vestibular malformations, are common in Down syndrome (DS, trisomy 21). Imaging reveals these inner ear changes are more prevalent than previously understood in children with DS.

Area of Science:

  • Otolaryngology
  • Genetics
  • Radiology

Background:

  • Middle and external ear anomalies are common in Down syndrome (DS, trisomy 21).
  • Inner ear anomalies in DS are less frequently described and understood.
  • This study focuses on the prevalence of inner ear malformations in children with DS.

Purpose of the Study:

  • To determine the prevalence of cochlear and vestibular anomalies in children with Down syndrome (DS).
  • To review and analyze inner ear morphology on medical imaging in patients with DS.

Main Methods:

  • Retrospective review of imaging features of inner ear structures in 59 patients with DS.
  • Quantitative biometric assessment of inner ear structures using high-resolution computed tomography or magnetic resonance imaging.
  • Comparison of measurements with normative data to identify anomalies.

Main Results:

  • Inner ear dysplasia is significantly more common in DS than previously reported.
  • Inner ear structures are universally hypoplastic in patients with DS.
  • Vestibular malformations are particularly common, with a small bony island of the lateral semicircular canal being a typical finding.

Conclusions:

  • Inner ear anomalies, especially vestibular malformations, are highly prevalent in Down syndrome.
  • Imaging is crucial for identifying these often-underreported inner ear changes in DS.
  • Findings suggest a need for increased awareness and investigation of inner ear morphology in children with DS.
Abstract

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