Clinical Guidance

OTOF-related hearing loss is an auditory synaptopathy that results from defective synaptic transmission from normally functioning cochlear inner hair cells (IHCs) to the auditory nerve . Thus, newborn hearing screening (NBHS) that relies on otoacoustic emission (OAE) testing, which primarily assesses function of outer hair cells (OHCs), is usually normal, whereas hearing tests that rely on auditory brain stem response (ABR) testing are abnormal given the failure of signal transmission from IHCs to the auditory nerve. All individuals with OTOF-related hearing loss have severely impaired speech discrimination. The two phenotypes comprising OTOF-related hearing loss are typical OTOF-related hearing loss and atypical OTOF-related hearing loss.

Diagnostic Criteria

No consensus clinical diagnostic criteria for OTOF-related hearing loss have been published.

Suggestive Findings

OTOF-related hearing loss should be considered in two scenarios: an abnormal newborn hearing screening (NBHS) result and a symptomatic individual.

Scenario 1: Abnormal Newborn Hearing Screening (NBHS) Result

Universal NBHS using physiologic screening is required by law or rule in all 50 states in the US and is performed on 98% of children in the US typically within days after birth (see 2020 Summary of National CDC EHDI Data).

Management Guidelines

No clinical practice guidelines specific for OTOF-related hearing loss have been published. Management ideally occurs in the context of a multidisciplinary clinic with specialists in otolaryngology, audiology, and genetic counseling. See Genetic Hearing Loss Overview, Management.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with OTOF-related hearing loss, the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor the individual's response to supportive care and the emergence of new manifestations, the primary focus should be routine audiometric follow up. The frequency of follow up should be individualized and is likely to vary over time. For example, initial follow up may include audiometry and speech discrimination testing every six months; however, if a child receives a cochlear implant, the scheduled follow up will change. Post implantation, there will be frequent evaluations as recommended by the cochlear implant team (otolaryngologist, audiologist, and speech-language pathologist). At subsequent follow-up appointments, assessments may include speech recognition testing, equipment checks, and provision of replacement or upgraded equipment . As the cochlear implant recipient and family become comfortable with the cochlear implant, many of the above tasks can be performed at home, markedly decreasing the need for routinely scheduled appointments.