Outcome evaluation in genetically characterised populations and auditory profiling

Cochlear Implantation & Auditory Outcomes

Not all patients benefit equally from cochlear implantation, and one of the most important unsolved questions is how the underlying genetics of hearing loss influences implant outcomes. Our approach combines careful audiological phenotyping — using objective measures of cochlear function, electrophysiology, and psychophysics — with genotypic characterisation to identify predictors of implant success.

This work includes development of auditory profiling metrics linking genotype to site-of-lesion and implant performance (Lanting et al., 2022) and evaluating CI outcomes in hereditary hearing loss. No clear differences between sites were observed, except a few where the site-of-lesion may be beyond the organ of corti (e.g., synpatic problems with OTOF or auditory nerve problems in subjects with mutations in OPA1)

outcomes per group Figure. CI outcomes per gene, sorted by median phoneme score (high-to-low) and color by site-of-lesion. Dots represent individual ears.

An IIR research grant (2022-2025, with Cochlear Ltd) supported a PhD project ran by Mirthe Fehrmann on how genetic hearing loss influences cochlear implant outcomes.

PhD Thesis

A second IIR project (2025–2029, with MedEl) addresses anatomy-based fitting and the neural correlates of listening effort. Pilot studies on listening effort and its correlates are now running.

Key references

Journal Articles

  1. Lanting, C., Snik, A., Leijendeckers, J., Bosman, A., & Pennings, R. (2022). Genetic Hearing Loss Affects Cochlear Processing. Genes, 13(11), 1923. https://doi.org/10.3390/genes13111923

Posts & write-ups

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