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Is it necessary to screen for hearing loss in the paediatric population with osteogenesis imperfecta?

P Imani1, S Vijayasekaran, F Lannigan

  • 1Princess Margaret Hospital for Children, University Department of Otolaryngology-Head and Neck Surgery, University of Western Australia.

Insights

Routine hearing screening is recommended for children with osteogenesis imperfecta. Early detection of hearing loss, including sensorineural and conductive types, is crucial in this population.

Area of Science:

  • Pediatric audiology
  • Genetics and rare diseases

Background:

  • Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones.
  • Hearing loss is a known complication of OI, but its typical onset is reported in adulthood.

Observation:

  • This study evaluated hearing in 22 children with OI over 5 years.
  • A significant majority (77.3%) of children exhibited some form of hearing loss.
  • Commonly observed were conductive hearing losses, often associated with otitis media with effusion.

Findings:

  • Conductive hearing loss was prevalent (63.6%), frequently resolving with treatment for otitis media with effusion.
  • Sensorineural hearing loss was identified in 13.6% of the children, with one case detected at 1 year of age.
  • The median age of hearing loss detection (9 years) was significantly earlier than previously suggested for OI.

Implications:

  • Early and routine hearing screening in pediatric OI populations is essential.
  • Timely identification and management of hearing loss can prevent long-term auditory complications.
  • Findings challenge the traditional understanding of hearing loss onset in osteogenesis imperfecta.

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