2024 Early Hearing Detection & Intervention Conference
March 17-19, 2024 • Denver, CO
| Auditory Brainstem Response Measures Across Genetic Variants of Auditory Neuropathy Spectrum Disorder
Auditory Brainstem Response Measures Across Genetic Variants of Auditory Neuropathy Spectrum Disorder
Auditory Neuropathy Spectrum Disorder (ANSD) is a hearing disorder characterized clinically by abnormal assessment of auditory neural function in the presence of positive cochlear responses (e.g., otoacoustic emissions and/or cochlear microphonic). Clinical assessment of early latency auditory evoked potentials with ANSD offers little information regarding auditory thresholds and clinical outcomes. Moreover, ANSD is often accompanied by concomitant neurodevelopmental conditions that delay behavioral assessment of hearing thresholds. ANSD arises from several possible sites of lesion, including dysfunction in the activity of the ribbon synapse of cochlear inner hair cells, the inner hair cell-spiral ganglion synaptic space, distal spiral ganglion cells, or the auditory nerve itself. Although the precise etiology underlying a diagnosis of ANSD remains unknown in many cases, it is hypothesized that most cases are acquired either at birth, during childhood, or have a genetic cause (Lin et al., 2020). Recent advancements in studies of genetic sequencing and sites of lesion testing have contributed significantly to our understanding of the genetic causes of ANSD (Shearer & Hansen, 2019). Genetic causes of ANSD can be syndromic or non-syndromic and acquired through a range of inheritance patterns (Lin et al., 2020). Importantly, there is a paucity of literature elucidating the relationship between genetic determinants of ANSD and results from electrophysiologic assessment of auditory function. These gaps can create uncertainty and challenges for families as they seek to make informed choices about their child’s healthcare. Here, we present results of a retrospective study examining the relationships between various genetic mutations contributing to ANSD and electrophysiologic findings over ten years in a large pediatric hospital setting. Results from this study may contribute to enhanced understanding of the diverse genetic manifestations of ANSD and refine future screening and assessment methods to treat this disorder.
- Attendees will be able to define the typical clinical presentation of Auditory Neuropathy Spectrum Disorder
- Attendees will be able to describe various genetic etiologies of ANSD and their relationship to electrophysiologic measures
- Attendees will be able to identify the relationship between results of genetic testing and outcomes for clinical interventions with ANSD
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Presenters/Authors
Casey Martin
(Primary Presenter,Author), University of North Carolina at Chapel Hill, casey_martin@med.unc.edu;
Casey Martin is a full-time graduate student in the Doctor of Audiology program at the University of North Carolina – Chapel Hill. She received a Bachelor of Arts in Speech and Hearing Sciences from the University of Connecticut in 2022. Ms. Martin is a LEND Audiology Trainee at the Carolina Institute for Developmental Disabilities, UNC School of Medicine.
ASHA DISCLOSURE:
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No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
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No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
Stacey Kane
(Co-Author), University of North Carolina at Chapel Hill, stacey_kane@med.unc.edu;
Stacey Kane is an audiologist and PhD candidate at The University of North Carolina at Chapel Hill. Dr. Kane’s clinical and research interests focus on the perceptual experiences of children with auditory neuropathy and sensorineural hearing loss and how these unique diagnoses influence speech perception and language development.
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Nonfinancial -
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Caitlin Sapp
(Co-Author), University of North Carolina - Chapel Hill, caitlin.sapp@unchealth.unc.edu;
Dr. Sapp is the head of Pediatric Audiology at UNC Medical Center in Chapel Hill, NC, and the director of the Early Hearing Loss Lab. Her research interests include examining the factors that improve language and social outcomes for children who are Deaf and Hard of Hearing, in particular malleable clinical factors like parent counseling.
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Nonfinancial -
AAA DISCLOSURE:
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Nonfinancial -