Dr Karen Liddle1, Dr Chirag Patel2, A/Prof Aideen McInerney-Leo3
1Children's Health Queensland, , Australia, 2Genetic Health Queensland, Metro North Hospital and Health Service, Brisbane, Australia, 3Frazer Institute, The University of Queensland, Brisbane, Australia
Biography:
Dr Karen Liddle, MBBS FRACP MPH, 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 caring for children with permanent hearing loss in the Childhood Hearing Clinic for fourteen 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 co-chair of the Childhood Hearing Australasia Medical Professionals (CHAMP) network and member of the Australasian Newborn Hearing Screening Committee.
Abstract
The purpose of the presentation
To describe the results of genetic testing and phenotypic profiles (audiological, imaging, communication) of children with hearing loss referred to a tertiary genetics service.
The nature and scope of the topic
Retrospective audit of children referred to a tertiary statewide specialist genetic service for investigation of childhood HL over the past decade. Genetic results as well as audiological phenotypes (degree, configuration and progression) will be described. Any imaging findings and details of communication outcomes will be reported
The issue or problem under consideration
Investigation of childhood HL and follow up if a specific cause has not been found has been a ‘one size fits all approach’ involving follow up investigations to exclude possible complications if a cause has not been found. A molecular diagnosis allows for precise counselling and follow-up. Many surveillance investigations will no longer be required.
The outcome of the conclusion reached.
Understanding more detail about the specific genetic causes of childhood hearing loss in Australia will allow understanding of natural history and more nuanced and comprehensive counselling and many surveillance investigations will be no longer required