Dr Karen Liddle1,2, Dr Jane Fitzgibbons1, Dr Rachael Beswick1
1Queensland Children’s Hospital, Children’s Health Queensland, Brisbane, Australia, 2Translational Research Institute, University of Queensland, Woolloongabba, Australia
Purpose:
To determine the incidence, prevalence and describe risk factors and etiology for childhood Auditory Neuropathy Spectrum Disorder (ANSD) using population level data from a statewide universal newborn hearing screening program
Nature and scope of the topic:
Retrospective statewide universal newborn hearing screening database review and descriptive analysis was undertaken from 2012-2019 of demographic, risk factors and hearing loss etiology for babies with sensorineural hearing loss (SNHL) and ANSD. Next generation genetic sequencing was not available.
Issue or problem under consideration:
ANSD is a distinct form of SNHL where inner hair cell and or auditory nerve function is disrupted by a wide range of mechanisms. It can be related to many factors, both genetic and environmental and can be challenging to diagnose and manage. Reported risk factors include hypoxia, hyperbilirubinaemia and prematurity and aABR screening is recommended in babies who have been in the neonatal intensive care unit. Prevalence estimates in healthy infants based on small numbers combined from heterogeneous populations are between 6 and 30/100 000.
Outcome or conclusion reached:
At a population level ANSD accounted for 7.0% of hearing loss with a population prevalence of 0.16 per 1000 live births. It was more likely to be unilateral (52/80) and the only perinatal risk factor significantly associated was hyperbilirubinaemia. Cochlear nerve deficiency was the most common etiology (46.3%; 37/80). Given that this can occur in well babies, aABR is a preferred mode for newborn hearing screening.
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 clinically and developmentally assessing children with permanent hearing loss in the Childhood Hearing Clinic for twelve 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.