Mrs Jenny Dravitzki1, Miss Fiona Yip1
1Health New Zealand – Nelson Marlborough | Te Whatu Ora – Te Tau Ihu, , Aotearoa / New Zealand
Biography:
Jenny is a registered midwife and nurse with a dule role as the coordinator for the UNHSEIP program and maternity quality and safety program for Health New Zealand – Nelson Marlborough. She worked for 12 years at Sport Tasman – Sport New Zealand working alongside family and educators in early childhood and primary school providing education and community programs to develop, enable environments to facilitate the development of fundamental movement skills in children through the New Zealand schools and early childhood curriculum. This work has been fundamental to the role in the UNHSEIP program.
Abstract
Newborn hearing screening is a vital tool for the early identification of not only hearing impairments but also underlying medical conditions. This presentation will explore the case of an infant who was referred to Audiology after receiving bilateral “refer” results from their newborn hearing screening. Subsequent diagnostic Auditory Brainstem Response (ABR) assessment revealed a bilateral moderate to severe mixed hearing loss with evidence with Auditory Neuropathy Spectrum Disorder (ANSD).
Further investigation through MRI scans uncovered abnormalities in the putamen, a region of the brain associated with learning and motor control. These findings prompted deeper medical enquiry, which led to the diagnosis of a rare mitochondrial disease caused by mutations in the ECHS1 gene. This genetic condition can impact multiple systems in the body, and hearing loss in this case was one of the earliest indicators of this underlying condition.
The case highlights the essential role of newborn hearing screening plays in not only identifying hearing loss but also serving as an early marker for other significant health issues. Early detection and intervention, triggered by the hearing screening, provided an opportunity for prompt medical intervention and effective multidisciplinary management of a complex condition. This emphasizes the importance of integrating newborn hearing results with comprehensive medical follow-up to identify and address hidden conditions that may otherwise go undetected during infancy.