Neurogenetics for the Practitioner - Chapter 20: Hearing loss

Hearing loss is the most common congenital sensory condition with an incidence of 1.7 per 1000 babies in the United States. Unrecognized hearing loss in children can delay speech, impair social development, and impact learning outcomes; therefore, a comprehensive evaluation is crucial for an early diagnosis. Hearing loss is classified as syndromic or nonsyndromic. Identifying the etiology of deafness/hard of hearing can provide important prognostic information and may uncover undiagnosed syndromic findings with neurologic implications. This chapter describes the genetic causes of hearing loss, various clinical presentations, and genetic testing strategies used in the workup for hearing loss patients.