A 4-month-old infant fails newborn hearing screening. Automated ABR shows no response at 40 dB nHL bilaterally. Genetic testing reveals mutations in the GJB2 gene encoding connexin 26. What is the most appropriate next step in management?

• A Bilateral hearing aid fitting followed by early auditory-verbal therapy ✓
• B Watchful waiting until the child is 2 years old before any intervention
• C Immediate cochlear implantation without hearing aid trial
• D BAHA (bone-anchored hearing aid) fitting as GJB2 causes conductive loss

Explanation

GJB2 mutations (connexin 26) are the most common cause of non-syndromic autosomal recessive congenital sensorineural hearing loss. The 'Early Hearing Detection and Intervention' (EHDI) principle mandates diagnosis by 3 months and intervention by 6 months of age to utilise the critical period of auditory cortex development. Bilateral hearing aids with intensive auditory-verbal therapy are commenced immediately. If adequate benefit is not achieved, cochlear implantation is considered, typically after 12 months of age.

Reference: Dhingra Diseases of Ear, Nose and Throat, 7th ed.

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Written and medically reviewed by the StethoPrep medical team.