Hearing Loss & Deafness

Other Names



Congenital hearing deficit

Congenital deafness

Diagnosis Coding

H91.90, unspecified hearing loss, unspecified ear

Disorder Category

A genetic disorder



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.


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: 2007]
  • 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 discharge before testing is completed), 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.


Incidence of neonatal hearing loss in the United States is about 1:1,000 and varies by state from 0.22:1,000 to 3.61:1,000. [Mehra: 2009]


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.

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.

Follow-up Testing after Positive Screen

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.

Primary Care Management

Upon Notification of the + Screen

If the Diagnosis is Confirmed

  • Educate the family regarding the need for:
    • Speech and language therapy
    • Hearing amplification to overcome hearing loss
    • Evaluation by an ophthalmologist
    • Early intervention services
  • In Utah, testing for congenital CMV infection was legislatively mandated in 2013 to enable early treatment to help mitigate the effects of the resulting hearing loss.
  • Provide information about communication options and hearing technologies.
  • Evaluate for the possibility of linked medical conditions, such as heart arrhythmias, vision problems, and kidney problems.

Specialty Care Collaboration

Initiate consultation and ongoing management with a pediatric audiologist during the newborn period. Consult with an otolaryngologist if anatomical abnormalities exist or for consideration of cochlear implantation. Consider consultation and ongoing management with audiology; early intervention; speech and language therapy; and the school system during childhood.


Information & Support

The Portal's Hearing Loss and Deafness provides management information.

For Professionals

Early Hearing Detection and Intervention (AAP)
Enhances clinical knowledge of the EHDI program and screening guidelines and helps to ensure that newborn screening results are communicated to families and reported according to state laws. Also has links to state chapters, EHDI experts, and resources; American Academy of Pediatrics and the Early Hearing Detection and Intervention Program.

Newborn Hearing Screening - Considerations for the Medical Home (AAP) (PDF Document 105 KB)
Outlines specific follow-up and reporting that the medical home should do when a newborn or infant does not pass hearing screening tests; American Academy of Pediatrics.

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.

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.

Deafness and Hereditary Hearing Loss 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.

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; Department of Education, Office of Special Education.

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.


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)
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.

Early Hearing Detection and Intervention Guidelines (AAP) (PDF Document 243 KB)
One-page algorithm for assuring documentation of normal newborn hearing screening or appropriate follow-up if negative; American Academy of Pediatrics.

Services for Patients & Families in Rhode Island (RI)

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.


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.

Otitis Media with Effusion (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

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 2007 position statement: Principles and guidelines for early hearing detection and intervention programs.
Pediatrics. 2007;120(4):898-921. 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

Mehra S, Eavey RD, Keamy DG Jr.
The epidemiology of hearing impairment in the United States: newborns, children, and adolescents.
Otolaryngol Head Neck Surg. 2009;140(4):461-72. PubMed abstract