Diagnostic Criteria

Suggestive Findings

The diagnosis of STRC-related autosomal recessive hearing loss (STRC-HL) should be considered in two scenarios: an and a with hearing loss.

Scenario 1: Abnormal Newborn Hearing Screening (NBHS) Result

Universal newborn hearing screening (NBHS) uses physiologic screening, either otoacoustic emissions (OAEs), which measure the response of the cochlea to auditory stimuli, or automated auditory brain stem response (AABR) testing, which measures physiologic response of the auditory nerve, brain stem, and brain to varying auditory stimuli. NBHS, required by law or rule in all 50 states in the United States, is performed on 98% of children in the US typically within days after birth (see www.cdc.gov).

Source: GeneReviews — "STRC-Related Autosomal Recessive Hearing Loss"

Differential Diagnosis

Autosomal recessive nonsyndromic hearing loss (AR NSHL). As of this writing, more than 75 genes have been associated with AR NSHL. Biallelic genetic alterations involving STRC are the most common cause of mild-to-moderate sensorineural hearing loss and the second most common cause of autosomal recessive hearing loss overall . See Genetic Hearing Loss Overview. lists selected genes of interest in the differential diagnosis of STRC-related autosomal recessive hearing loss; for a current, comprehensive list of all identified autosomal recessive nonsyndromic hearing loss genes, see Hereditary Hearing Loss Homepage. Table 4. Selected Genes of Interest in the Differential Diagnosis of Nonsyndromic Mild-to-Moderate STRC-Related Autosomal Recessive Hearing Loss

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of involvement and needs of an individual diagnosed with STRC-related autosomal recessive hearing loss (STRC-HL), the following evaluations are recommended:

Source: GeneReviews — "STRC-Related Autosomal Recessive Hearing Loss"

Surveillance Guidelines

To monitor the degree of hearing loss, the individual's response to use of hearing aids, and development of speech and language, the following evaluations are recommended:

• Annual examination by an otolaryngologist familiar with genetic hearing loss to assure that no other reversible factors may be contributing to hearing loss, such as otitis media or cerumen impaction. This visit also ensures health of the ears in the presence of hearing aids.

• Repeat audiometry to identify any change in hearing. In general, audiologic evaluation is recommended every three months between birth and age two years and every six months between the ages of two and five years. Hearing tests can occur annually for children age five years and older if hearing is stable and there are no additional otologic concerns. Audiologic scheduling and follow up will be determined by the individual's managing audiologist.

• Evaluation of speech and language and/or communication as recommended by a speech-language pathologist

Source: GeneReviews — "STRC-Related Autosomal Recessive Hearing Loss"