A neonate fails newborn hearing screening bilaterally. Subsequent ABR shows absent waves bilaterally with click stimulus. Genetic testing reveals homozygous GJB2 (connexin 26) mutation. Which statement about cochlear implantation in this child is TRUE?

• A Cochlear implantation should be deferred until 24 months to allow for spontaneous recovery
• B GJB2 mutations are associated with excellent cochlear implant outcomes due to intact spiral ganglion cells ✓
• C Unilateral implantation is preferred over bilateral implantation to avoid overloading the auditory cortex
• D GJB2 mutations cause syndromic hearing loss requiring cardiac evaluation before implantation

Explanation

GJB2 (connexin 26) mutations are the most common cause of non-syndromic autosomal recessive sensorineural hearing loss. These children have preserved spiral ganglion cells and cochlear nerve despite loss of cochlear hair cell function, which is why they show excellent outcomes after cochlear implantation — among the best of any etiology. Early implantation (before 12 months in many guidelines) is recommended to capitalize on the critical period of auditory cortex development. GJB2 causes non-syndromic (not syndromic) hearing loss.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.