Congenital Hearing Loss
[Congenital hearing loss >~30db]
Differential Diagnosis: Extensive. Includes 40% environmental (mostly bacterial/viral) and 60% genetic (30% syndromal and 70% nonsyndromal representing over 100 genes).
Condition Description: Defined as hearing loss that is permanent, bilateral or unilateral, sensorineural or conductive, and averaging loss of 30 decibels or more in frequency range important for speech recognition.
You Should Take the Following Actions:
- Contact family to inform them of the newborn screening result
- Consult audiologist or ENT to confirm hearing loss and refer, if needed
- Evaluate infant (see Clinical Considerations below)
- Initiate timely diagnostic and comprehensive genetics evaluation as recommended by a multidisciplinary hearing loss team
- Educate family that hearing intervention improves developmental outcomes
- Report findings to state newborn screening program (Carleigh Soule at 307-777-6297)
Diagnostic Evaluation: Hearing loss is confirmed and followed up by a comprehensive hearing loss team evaluation and testing for an etiologic diagnosis. Testing algorithms are prioritized around family history and likelihood of a syndromal condition. If familial and nonsyndromal, GJB2 testing is done. Cytomegalovirus (CMV) and mitochondrial etiologies are also possible. Confirmatory work should be completed by age 3 months.
Clinical Considerations: Hearing loss may indicate a genetic syndrome with involvement of other organ systems. Untreated hearing loss can result in lifelong deficits in speech and language development, so it is critical that all infants who fail newborn screening have follow-up testing.
Additional Information: (Click on the name to take you to the website)
Gene Tests/Gene Clinics Wyoming Department of Health
National Center for Hearing Assessment and Colorado Newborn Screening
/Management http://www.cdphe.state.co.us http://www.infanthearing.org/
Genetics Home Reference American Academy of Pediatrics
For Algorithm: http://www.acmg.net/resources/policies/ACT/Visio-hearing-loss(4-17-06).pdf