Investigating the aetiology of congenital hearing loss: What can Australian data tell us?

Dr Neha Sethi1, Dr Ken Peacock1, Ms Katherine O’Brien2, Dr Beverley Bennett1, Dr Elizabeth Peadon1

Deafness Centre, The Children’s Hospital at Westmead, Sydney, Australia,

Audiology Department, The Children’s Hospital at Westmead, Sydney, Australia

Background: There is limited Australian data on the causes of congenital hearing loss. The aim of this presentation is to contribute to our understanding of the investigation and aetiology of congenital hearing loss in Australia.

Methods: A retrospective review was undertaken of all patients born between January 2013 and June 2014 who were seen at the Deafness Centre at The Children’s Hospital at Westmead  with a confirmed diagnosis of congenital hearing loss. Demographic data, audiology results, investigation results and aetiological data were collected and reviewed.

Results: 138 infants were eligible for inclusion in the study. 42% of the population was male, with 15% coming from a non-English speaking background.  59% of the infants had bilateral hearing loss. The majority of hearing loss (57.2%) was sensorineural, with 23.9% conductive, 10.1% mixed and 9.4% due to Auditory Neuropathy Spectrum Disorder. Family history was the commonest risk factor identified (22.4%) followed by craniofacial anomalies (21.74%). There was significant variation in the range of investigations conducted based on the type of hearing loss and family preference, with an ophthalmology review being the commonest investigation. 32% of infants had abnormalities on neuroimaging. The commonest aetiology for congenital hearing loss was genetic, seen in 39.1% of our population.

Conclusion:  In this presentation, we will discuss our approach to aetiological investigation and the implications of the findings from our cohort.


Elizabeth Peadon is a developmental paediatrician who has been working with children with hearing loss and deafness and their families for the past ten years.  She has been the Head of the Deafness Centre at The Children’s Hospital at Westmead for eight years.  Elizabeth enjoys listening to children and families as they share their journey.  She loves exploring data to find ways to give families more accurate answers to their questions.