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Updated: Oct 5, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

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Vestibular and Balance Impairment Is Common in Children With Primary Ciliary Dyskinesia

Faisal Zawawi1,2, Blake C Papsin2,3, Sharon Dell4,5

  • 1Department of Otolaryngology-Head and Neck Surgery, King Abdulaziz University, Jeddah, Saudi Arabia.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology
|January 21, 2022
PubMed

Insights

Vestibular impairment is common in children with primary ciliary dyskinesia (PCD). Many cases of imbalance and vestibular issues in PCD patients go undiagnosed, highlighting a need for better screening.

Area of Science:

  • Pediatric otolaryngology
  • Genetics
  • Neurology

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing respiratory issues.
  • Middle ear effusion is a common otologic manifestation of PCD.
  • The prevalence of vestibular impairment in children with PCD is not well-established.

Purpose of the Study:

  • To investigate the presence and extent of vestibular impairment in children diagnosed with PCD.
  • To determine if common genetic mutations in PCD are associated with vestibular dysfunction.

Main Methods:

  • A cross-sectional cohort study was conducted at a tertiary pediatric referral hospital.
  • Twenty-five children with confirmed PCD underwent clinical assessment and vestibular testing.
  • Tests included single-leg stance with eyes open/closed and video head impulse testing (vHIT).

Main Results:

  • Nineteen out of 25 (76%) children with PCD exhibited vestibular impairment.
  • Fifteen participants failed the single-leg stance test, and six had abnormal vHIT results.
  • The DNAH5 gene mutation was most common (32%) and strongly associated with vestibular impairment (87.5%).

Conclusions:

  • A significant majority of children with PCD experience vestibular impairment, often previously undiagnosed.
  • Vestibular pathology and imbalance may be under-diagnosed in the PCD population.
  • Routine vestibular screening is recommended for children with PCD.
Abstract

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