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The genetics of deafness - An update for parents

This webinar, presented by Dr Karen Liddle MBBS FRACP MPH, provides parents with information on the genetics of deafness, with a particular focus on connexin 26, the most common genetic cause of deafness. It covers topics such as how deafness can be inherited, common genes involved, and how parents can organise genetic testing for their child with hearing loss. 

Dr Karen Liddle, is a Senior Staff Specialist Paediatrician at the Queensland Children’s Hospital and PhD candidate with the University of Queensland with the Integrating Genomics into Medicine Group. She has been clinically and developmentally assessing children with permanent hearing loss in the Childhood Hearing Clinic for thirteen years.  Her current research engages national and international collaborators to evaluate the utility of genetic testing and imaging in informing diagnoses and improving outcomes in childhood hearing loss.  She is a member of the Childhood Hearing Australasia Medical Professionals (CHAMP) network and the Australasian Newborn Hearing Screening Committee. 

  • Dahl, H. H., Ching, T. Y., Hutchison, W., Hou, S., Seeto, M., & Sjahalam-King, J. (2013). Etiology and audiological outcomes at 3 years for 364 children in Australia. PLoS One, 8(3), e59624. https://doi.org/10.1371/journal.pone.0059624
  • Holzinger, D., Dall, M., Kiblböck, S., Dirks, E., Carew, P., Smith, L., Downie, L., Shepherd, D. A., & Sung, V. (2022). Predictors of Early Language Outcomes in Children with Connexin 26 Hearing Loss across Three Countries. Children, 9(7), 990. https://doi.org/10.3390/children9070990
  • Downie, L., Halliday, J., Burt, R., Lunke, S., Lynch, E., Martyn, M., Poulakis, Z., Gaff, C., Sung, V., Wake, M., Hunter, M. F., Saunders, K., Rose, E., Lewis, S., Jarmolowicz, A., Phelan, D., Rehm, H. L., Melbourne Genomics Health Alliance, & Amor, D. J. (2020). Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. European journal of human genetics : EJHG28(5), 587–596. https://doi.org/10.1038/s41431-019-0553-8

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