Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.
Hongyang Wang, Kaili Wu, Jin Li and 11 others
Children with OTOF-related auditory neuropathy mostly have severe to profound hearing loss.
Pure-tone thresholds stayed stable over follow-up, but DPOAE and ASSR measures declined. Cochlear implantation, chosen by most patients, gave good speech outcomes, with longer use linked to better results.
Key findings
1All 43 patients had absent or severely abnormal ABR bilaterally, cochlear microphonics were recorded in all 31 tested, and the majority of ears (46.67% deafness, 26.67% profound, 17.78% severe) had severe to profound hearing loss.
2Over follow-up, pure-tone thresholds showed no significant change (p = 0.430), but DPOAE extraction rate declined (median 62.50% to 50.00%, p = 0.048) and ASSR thresholds increased, most at 4 kHz (14.10 dB per year).
3Most patients who reported an intervention chose cochlear implantation (73.53%). The median CAP score was 7.00 and SIR was 4.00. CAP and SIR both correlated with implantation duration (p = 0.001, R = 0.652; p = 0.016, R = 0.497).
Still to come
How it was doneWhat they foundWhat it means for SLPs
Read the rest of this summary
You get three full summaries a month, free, and we do not ask for a card. Search, the TL;DRs and your library stay unlimited either way.
What it does not show
Single centre, 43 patients, no control group, no randomisation. This is a descriptive cohort, not a trial. Follow-up numbers vary by test: 15 patients for DPOAE, 19 for ASSR, 15 for pure-tone audiometry. The before-and-after CI threshold comparison is based on only 10 patients (4 CI ears). Genotype-phenotype analysis is underpowered; the authors note that the lack of significant differences may reflect insufficient sample size. Vestibular function was assessed by questionnaire only, not by formal testing (vHIT, VEMP), so mild vestibular involvement cannot be excluded. All patients are from a single Chinese population; variant frequencies and phenotype may differ in other populations. Intervention was self-selected; patients who chose CI may differ systematically from those who did not.
Declared interests
Funded by the National Natural Science Foundation of China (No. 82222016) and the National Key Research and Development Program of China (2023YFC2509800, 2023YFC2508400). The funders had no role in study design, data collection, analysis, or manuscript preparation. The authors declare no conflicts of interest.
The easy way to misread this
Do not read the 73.75 dB cochlear implant improvement as a controlled treatment effect. It comes from 4 ears in 10 self-selected patients with no comparison group, and the before-and-after design cannot separate implant benefit from maturation or test-retest change. The genotype-phenotype trends the authors describe (loss-of-function variants linked to worse thresholds, C2-domain variants linked to better thresholds) did not reach significance in most comparisons and should not be used to predict an individual child's hearing level or CI outcome.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →