According to the ACMG guidelines, what should be the focus of clinical history and physical exam for evaluation and diagnosis of sudden hearing loss?

Updated: Aug 28, 2019
  • Author: Neeraj N Mathur, MBBS, MS, DNB(ENT), MNAMS, FAMS; Chief Editor: Arlen D Meyers, MD, MBA  more...
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Answer

The 2014 American College of Medical Genetics and Genomics (ACMG) guidelines for clinical evaluation and etiologic diagnosis of hearing loss are summarized below. Medical histories may be helpful in differentiating between acquired versus inherited causes of hearing loss. According to the ACMG, histories aimed at assessing hearing loss should include the following [29] :

  • Prenatal history of maternal infections (eg, cytomegalovirus, rubella, syphilis) or drug exposures (eg, thalidomide, retinoic acid)
  • Neonatal history, including premature birth, low birth weight, birth hypoxia, hyperbilirubinemia, sepsis, and exposure to ototoxic medications
  • Postnatal history, including viral illnesses, bacterial meningitis, head trauma, noise exposure, and exposure to ototoxic medications
  • Audiometric assessment of the hearing loss; age of onset; progressive, nonprogressive, or fluctuating nature of the hearing loss; laterality, symmetry, severity, and configuration of the hearing loss; and the presence or absence of vestibular dysfunction or auditory neuropathy

The family medical history should concentrate on the following [29] :

  • First- and second-degree relatives with hearing loss or with features commonly associated with hearing loss (such as pigmentary, branchial, or renal anomalies) or sudden cardiac death
  • A pattern of inheritance
  • Ethnicity and country of origin
  • A common origin from ethnically or geographically isolated areas
  • Consanguinity

The physical examination should focus on the following [29] :

  • Unusual facial appearance, with attention to asymmetry
  • Pigmentary anomalies
  • Neck, skin, facial, or ear anomalies
  • Neurologic abnormalities
  • Balance disturbances
  • Skeletal abnormalities
  • Other unusual physical findings

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