Hearing Impairment Guidelines

Updated: Oct 07, 2021
  • Author: Rahul K Shah, MD, FACS, FAAP; Chief Editor: Ravindhra G Elluru, MD, PhD  more...
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ACMG Guideline for Evaluation and Diagnosis of Hearing Loss

In 2014, the American College of Medical Genetics and Genomics (ACMG) published a guideline that provided information about the frequency, causes, and presentations of hearing loss and suggested approaches to clinical evaluation aimed at identifying an etiologic diagnosis of hearing loss. [14]  Recommendations included the following:

  • All newborns and infants with confirmed hearing loss should undergo a comprehensive evaluation that includes patient-focused medical and birth histories and a three-generation pedigree and family medical history are obtained, as well as a physical examination focusing on dysmorphic physical findings; evaluation of children and young adults with hearing loss should follow a similar approach.
  • Elements of medical and birth histories focused on hearing loss include prenatal history (eg, maternal infections and illnesses or medication or drug exposures); neonatal history (eg, premature birth, low birth weight, birth hypoxia, hyperbilirubinemia, sepsis, and exposure to ototoxic medications); postnatal history (eg, viral illnesses, bacterial meningitis, head trauma, noise exposure, and exposure to ototoxic medications); and audiometric assessment of the hearing loss.
  • The pedigree and family medical history should focus on identifying the following: first- and second-degree relatives with hearing loss or with features commonly associated with hearing loss (eg, pigmentary, branchial, or renal anomalies) or sudden cardiac death; a pattern of inheritance; ethnicity and country of origin; common origin from ethnically or geographically isolated areas; and consanguinity.
  • The physical examination should focus on dysmorphic and other physical findings (eg, unusual facial appearance, with attention to asymmetry; pigmentary anomalies; neck, skin, facial, or ear anomalies; neurologic abnormalities; balance disturbances; and skeletal abnormalities).
  • For individuals with findings that suggest a syndromic genetic etiology for their hearing loss, pretest genetic counseling should be provided, and, with informed consent, genetic testing, if available, should be ordered to confirm the diagnosis; appropriate studies should be undertaken to determine whether other organs are involved; appropriate near-term and long-term screening and management should be arranged as indicated by the associated manifestations of the particular syndrome.
  • For individuals lacking physical findings suggestive of a known syndrome and having medical and birth histories that do not suggest an environmental cause of hearing loss, a tiered approach is advisable; pretest genetic counseling should be provided, and, with informed consent, genetic testing should be ordered; temporal bone imaging by CT or MRI should be considered as a complement to genetic testing; cytomegalovirus (CMV) should be done at the same time as genetic testing for infants with congenital hearing loss (for later-onset or progressive hearing loss, the likelihood that a positive CMV test result is due to postnatal exposure increases with age).
  • Referral to a multidisciplinary care center, when available, is recommended; a team approach that includes otolaryngologists, clinical geneticists, genetic counselors, audiologists, speech and language specialists, early hearing intervention and family support specialists, and other appropriate specialists is optimal.
  • When genetic evaluation has failed to identify an underlying cause, periodic follow-up care every 3 years with a geneticist may be appropriate.
  • Regardless of whether genetic test results are positive, negative, or inconclusive, results should be communicated through the process of genetic counseling.