AUDITORY NEUROPATHY

Approximately 10% of children who are diagnosed with hearing loss at birth have auditory neuropathy usually due to genetic structure.

What is Auditory Neuropathy?

A type of sensorineural hearing loss in which the inner ear successfully detects sound, but is unable to send sound from the ear to the brain.

What Causes Auditory Neuropathy?

Researchers report several causes of auditory neuropathy. The most common genetic cause is insufficient production of a protein called otoferlin. The otoferlin protein allows communication between the inner ear sensory cells and the auditory nerve. When the otoferlin protein is deficient, the ear cannot communicate with the nerve and brain. This results in severe to profound hearing loss.

How Do We Know if Our Child’s Auditory Neuropathy is Related to Genetic Causes?

Auditory neuropathy is one of the most challenging forms of hearing loss to diagnose. Over the last two decades, scientists have made substantial progress in identifying genetic causes of hearing loss. Because of these advances, a simple genetic test can now diagnose otoferlin deficiency and other causes of hearing loss.

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Researchers are still seeking effective treatments for children with auditory neuropathy.

Some but not all children may benefit from hearing aids, cochlear implants, and other technologies. Gene therapy, guided by an understanding of the complex biology of the inner ear, may hold the key for children whose hearing loss is determined to be caused by an otoferlin deficiency.

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CLINICIAN PERSPECTIVE

Dr. Sharon Cushing of the Hospital for Sick Children in Toronto explains auditory neuropathy and discusses the outlook for treatment for children diagnosed with hearing loss.

Resources

To learn more about hearing loss, including auditory neuropathy, and efforts to develop and advance treatment, please visit:

Hearing, Ear Infections & Deafness
Auditory Neuropathy

Glossary of Terms

auditory neuropathy: a hearing disorder in which sound enters the inner ear normally, but is impaired when signals move from the inner ear to the brain

cochlear implant: an electronic device that is surgically implanted and works by directly stimulating functioning auditory nerve fibers in the inner ear; cochlear implants convert sound waves to electrical impulses and transmit them to the inner ear, providing people with severe to profound hearing loss the ability to hear sounds

congenital hearing loss: hearing loss that is present at birth

gene therapy: a technique that modifies a person’s genes to treat or cure disease

genetic hearing loss: hearing loss caused by a genetic deficiency or mutation of a gene

otoferlin (OTOF): a large protein expressed in cochlear inner hair cells that enables communication between the sensory cells of the inner ear and the auditory nerve by regulating synaptic transmission

sensorineural hearing loss: hearing loss that occurs from damage to the inner ear, the nerve that runs from the ear to the brain (auditory nerve), or the brain