A new genetic variant causing auditory neuropathy: A CARE case report

Area of Science:

• Genetics
• Neuroscience
• Audiology

Background:

• Auditory neuropathy is characterized by impaired auditory signal synchronization along the cochlear nerve.
• This case report follows CARE guidelines, detailing a novel genetic variant associated with auditory neuropathy.

Observation:

• An 18-year-old with learning difficulties presented with speech comprehension deficits, particularly in noise.
• Electrophysiological testing diagnosed auditory neuropathy, associated with a 2.66Mb deletion at chromosome 16p13.11p12.3.
• The patient received speech therapy with auditory training and a hearing aid with a high-frequency microphone.

Findings:

• The patient reported significant improvement in understanding speech in noise after 6 months of intervention.
• The specific 16p13.11 deletion's role in the patient's symptoms was unclear, suggesting incomplete penetrance or variable expression.
• Early diagnosis facilitated the implementation of specialized, multidisciplinary management.

Implications:

• This case highlights the importance of early diagnosis for effective management of auditory neuropathy.
• Genetic testing can identify novel variants contributing to auditory neuropathy, aiding in understanding its complex etiology.
• Multidisciplinary approaches, including auditory training and adapted hearing aids, are crucial for improving patient outcomes.