Clinical Guidance

GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) is the most common genetic cause of congenital (present at birth) severe-to-profound non-progressive sensorineural hearing loss in many world populations. GJB2-AR NSHL can also be mild to moderate and is usually not progressive; however, there are exceptions. Severe-to-profound GJB2-AR NSHL is typically congenital and diagnosed on newborn hearing screening (NBHS); however, there are occasional exceptions. In two examples, a newborn passed his NBHS auditory brain stem response (ABR)-based test, but was diagnosed as deaf at age 15 months when an ABR test obtained at the request of his parents showed no responses through 90 dB.

Diagnostic Criteria

Suggestive Findings

The diagnosis of GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) should be considered in two scenarios: an and a .

Scenario 1: Abnormal Newborn Hearing Screening (NBHS) Result

Universal NBHS using physiologic screening (either otoacoustic emissions [OAE], which measure the response of cochlear outer hair cells to auditory stimuli, or automated auditory brain stem response [ABR], which measures the physiologic response of cochlear inner hair cells, auditory nerve, brain stem, and brain to auditory stimuli) is required by law or rule in all 50 states in the United States 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 to GJB2-related autosomal recessive nonsyndromic hearing loss (GJB2-AR NSHL) 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 involvement and needs in an individual diagnosed with GJB2-AR NSHL, the following evaluations by an otolaryngologist are recommended:

Surveillance Guidelines

To monitor the individual's response to habituation and to identify any changes in severity of hearing loss, the following evaluations are recommended. Most children with severe-to-profound GJB2-AR NSHL with a cochlear implant will initially have frequent evaluations recommended by their cochlear implant team (otolaryngologist, audiologist, and speech and language pathologist). At follow-up appointments, the following may be performed: speech recognition testing, equipment checks (including device adjustment and troubleshooting), and provision of replacement or upgraded equipment . As the cochlear implant recipient becomes comfortable with the cochlear implant, many of the above tasks can be performed by the family at home, obviating the need for routinely scheduled appointments unless the need for a clinic visit arises.