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Hearing Loss & Deafness

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Guidance for primary care clinicians receiving a positive newborn screen result

Other Names

Congenital deafness
Congenital hearing deficit
Deaf
Hard-of-hearing

ICD-10 Coding

H91.90, Unspecified hearing loss, unspecified ear

Disorder Category

Genetic disorder

Screening

Abnormal Finding

Loss of hearing sensitivity and acuity, from mild to profound, unilateral or bilateral

Tested By

Automated auditory brainstem response testing (AABR or ABR), sensitivity=100%, specificity=99.7% [Hall: 2004] or otoacoustic emission testing (OAE), sensitivity of 76.9%, specificity of 90% [Llanes: 2004]
AABR measurements reflect the function of the auditory system up through the brainstem, including the peripheral auditory system, the eighth nerve, and the brainstem auditory pathway. OAEs reflect the status of the peripheral system extending to the cochlear outer hair cells. In some clinics, OAE testing is performed first, with secondary AABR testing if the OAE is failed.

Description

The Joint Committee on Infant Hearing endorses early hearing detection and intervention for infants with hearing loss. The goal is to maximize linguistic competence and literacy development for children who are deaf or hard of hearing. Without early detection and opportunities for language development, children with hearing loss will fall behind their peers in communication, cognition, reading, and social-emotional development. [Joint: 2019]

  • Conductive hearing disorders involve outer and middle ear structures (congenital anomalies, otitis media, etc.).
  • Sensory hearing disorders involve the cochlea and inner ear structures (maternal and acquired infections).
  • Neural hearing disorders involve problems of the auditory nervous system (neoplasm and hypoxia, auditory neuropathy/dyssynchrony).

All infants should have a newborn hearing screening prior to 1 month of age. If immediate newborn screening is not possible (e.g., home birth, birth in a center not offering screening, or the infant is discharged before testing is completed), a referral should be made to a pediatric audiologist who can perform a screening within the first month of life. Repeat newborn hearing screening is recommended if an infant is readmitted to the hospital for sepsis, meningitis, or hyperbilirubinemia requiring exchange transfusion.

Infants admitted to the NICU for 5 days, or more are at increased risk for auditory neuropathy and should have both an AABR and OAE performed as part of their screening; in these patients, an OAE alone is insufficient.

Clinical Characteristics

With treatment starting by 6 months of age, children have improved language and speech skills.
Without treatment, children have impaired ability to communicate, decreased speech and language development, and problems with emotional and social development.

Incidence

For babies screened in the US for hearing loss, the incidence is about 1.7:1,000. It is higher in NICU populations. [National: 2019]

Inheritance

More than half of childhood hearing loss is genetic:
  • 77% recessive
  • 22% dominant
  • 1% X-linked
More than 400 genes have been identified that are associated with hearing loss. Approximately 70% of genetic sensorineural hearing loss is not associated with other known anomalies or abnormalities.

Primary Care Management

Next Steps After a Positive Screen

  • Contact the family and evaluate the infant for potential causes, including infections and syndromes.
  • Refer to an audiologist for repeat testing within 1 month and, if still positive, diagnostic testing to determine the type of hearing loss and possible causes.

Confirming the Diagnosis

Confirmatory testing for hearing loss and deafness should be completed by the time the infant is 3 months old. To confirm the diagnosis, work with:

If the Diagnosis is Confirmed

Resources

Information & Support

Related Portal Content
Hearing Loss and Deafness
Assessment and management information for the primary care clinician caring for the child with medium-chain acyl-CoA dehydrogenase deficiency.
Hearing Loss and Deafness (FAQ)
Answers to questions families often have about caring for their child with hearing loss and deafness.
After a Diagnosis or Problem is Identified
Families can face a big change when their baby tests positive for a newborn condition. Find information about A New Diagnosis; Caring for Children with Special Health Care Needs; Assistance in Choosing Providers; Partnering with Healthcare Providers; Top Ten Things to Do After a Diagnosis.

For Professionals

Resources for Professionals (My Baby's Hearing)
Contains information about hearing aid validity verification and genetics, and resources for nurses and midwives; Boys Town National Research Hospital.

Hereditary Hearing Loss and Deafness Overview (GeneReviews)
Detailed information addressing clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular pathogenesis; from the University of Washington and the National Library of Medicine.

For Parents and Patients

My Baby's Hearing (NIDCD)
Information for families about hearing screening and hearing loss, follow-up, amplification options, and more. A link to the site in Spanish is on the home page; Boys Town National Research Hospital and the National Institute on Deafness and Other Communication Disorders.

Universal Newborn Hearing Screening (My Baby's Hearing)
Information about specific aspects of newborn hearing screening, as well as information for families who have recently received a diagnosis; Boys Town National Research Hospital.

Communicate with Your Child (NCAM)
Links to brochures in 6 languages providing information about communication and technology options for children with hearing loss; National Center for Hearing Assessment and Management.

Center for Parent Information and Resources (DOE)
Parent Centers in every state provide training to parents of children with disabilities and provide information about special education, transition to adulthood, health care, support groups, local conferences, and other federal, state, and local services. See the "Find Your Parent Center Link" to find the parent center in your state.

National Center for Hearing Assessment and Management (USU)
A national resource center for the implementation and improvement of comprehensive and effective Early Hearing Detection and Intervention (EHDI) systems; Utah State University.

Patient Education

Let's Talk About: What Can Your Baby Hear? (Intermountain Healthcare) (PDF Document 76 KB)
A guide to parental assessment of infant hearing.

Tools

1-3-6 Newborn Hearing Checklist (AAP) (PDF Document 105 KB)
Checklist for assuring early detection and intervention for infants born with hearing loss; American Academy of Pediatrics and the Early Hearing Detection and Intervention Program.

ACT Sheet for Congenital Hearing Loss (ACMG) (PDF Document 283 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.

Confirmatory Algorithms for Hearing Loss (ACMG) (PDF Document 184 KB)
An algorithm of the basic steps involved in determining the final diagnosis of an infant with a positive newborn screen; American College of Medical Genetics.

Services for Patients & Families Nationwide (NW)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

Otitis Media with Effusion (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Childhood Hearing Loss (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Cochlear Implants and Children (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Helpful Articles

PubMed search for deafness or hearing loss in children and neonatal screening, last 2 years.

American College of Medical Genetics Newborn Screening Expert Group.
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.
Genet Med. 2002;4(3):162-71. PubMed abstract / Full Text
Guideline reaffirmed by the ACMG in 2005

Samson-Fang, L., Simons-McCandless, M., & Shelton, C.
Controversies in the field of hearing impairment: Early identification, educational methods, and cochlear implants.
Infants and Young Children. 2000;12(4):77-88. PubMed abstract

Kadambari S, Williams EJ, Luck S, Griffiths PD, Sharland M.
Evidence based management guidelines for the detection and treatment of congenital CMV.
Early Hum Dev. 2011;87(11):723-8. PubMed abstract / Full Text

Authors & Reviewers

Initial publication: August 2009; last update/revision: January 2017
Current Authors and Reviewers:
Author: Richard Harward, AuD
Reviewers: Stephanie Browning McVicar, Au.D., CCC-A
Jenny Pedersen, M.S., CCC-A

Page Bibliography

American College of Medical Genetics Newborn Screening Expert Group.
Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.
Genet Med. 2002;4(3):162-71. PubMed abstract / Full Text
Guideline reaffirmed by the ACMG in 2005

Hall JW 3rd, Smith SD, Popelka GR.
Newborn hearing screening with combined otoacoustic emissions and auditory brainstem responses.
J Am Acad Audiol. 2004;15(6):414-25. PubMed abstract
Provides sensitivity and specificity for newborn hearing screening.

Joint Committee on Infant Hearing.
Year 2019 position statement: Principles and guidelines for early hearing detection and intervention programs.
Journal of Early Hearing Detection and Intervention. 2019. / Full Text

Kadambari S, Williams EJ, Luck S, Griffiths PD, Sharland M.
Evidence based management guidelines for the detection and treatment of congenital CMV.
Early Hum Dev. 2011;87(11):723-8. PubMed abstract / Full Text

Llanes EG, Chiong CM.
Evoked otoacoustic emissions and auditory brainstem responses: concordance in hearing screening among high-risk children.
Acta Otolaryngol. 2004;124(4):387-90. PubMed abstract

National Center on Birth Defects and Developmental Disabilities.
Research and Tracking of Hearing Loss in Children.
Centers for Disease Control and Prevention; (2019) https://www.cdc.gov/ncbddd/hearingloss/research.html. Accessed on April 2022.

Samson-Fang, L., Simons-McCandless, M., & Shelton, C.
Controversies in the field of hearing impairment: Early identification, educational methods, and cochlear implants.
Infants and Young Children. 2000;12(4):77-88. PubMed abstract