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Deafness

Early Hearing Detection and Intervention  (EHDI)

Many newborns with deafness are identified through screening shortly after birth.  Timing of screening, follow-up testing and evaluation is important.  The following is the recommended timeline:

  • Before the baby is ONE month old - Hearing screening 
  • Before the baby is THREE months old - Full hearing test
  • Before the baby is SIX months old - Early intervention evaluation
  • Before the baby is NINE months old - Discuss referral to genetics

Considerations for a Genetics Referral for Deafness or a Hard of Hearing (DHH) Child:

Who?

  • Newborn or children who failed Newborn Hearing Screening (NBHS)
  • Newborn or children with a family history of deafness or hard of hearing (DHH) and/or with distinctive physical features such as ear malformations, pigment changes in hair or eyes, cardiac arrhythmias, and facial changes.

What is needed?

  • Discuss referral to a geneticist.
  • Consider working with the state/district Early Hearing Detection and Intervention Program (EHDI). coordinator to include genetics referral in the EHDI follow-up card.
  • Consider using available DHH-genetics resources (included below).

When?

  • After failed newborn hearing screening or at the office visit when additional red flags such as family history and distinct clinical features are identified.

Why?

  • 2-3/1000 children (about 4000 children/year) in the US are born with profound deafness.
  • About half of all congenital deafness is caused by a genetic change.
  • Early Genetics Assessment may…
    • Provide a specific cause of deafness.
    • Help guide treatment and personalized care management and reduce unnecessary testing.
    • Discuss having a genetic test (usually a blood test) and address genetic counseling issue.
    • Provide additional connections to specialists and support groups.

How?

  • CPT codes for connexin testing (GJB2 and GJB6 genes): 81252 and 81254.
  • Consider a genetics consult for simultaneous testing for multiple genes (panel testing)

The genetics evaluation of a deaf or hard of hearing (DHH) child are best performed in stages (tiers) with high level of acceptance with third party payers and with families. General outline of a structured genetic evaluation includes:

  • Stage 1: Medical Genetics, audiology, otolaryngology.
  • Stage 2: Vestibular testing, ophthalmology, CT scan of the temporal bones, serology, urinalysis and serum creatinine.
  • Stage3: Selected DNA tests based on the first 2 stages, electrocardiogram and electroretinogram (if clinically indicated).

Benefits of structured genetic evaluation of a DHH child include:

  • Higher chances of getting a diagnosis.
  • Easier overall practicality of obtaining the genetic tests.
  • Better potential of timely intervention.

Further Resources: