Audiological assessment and management in the era of precision medicine

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Hearing loss (HL) is the most common sensory deficit in childhood. Infant hearing screening is becoming widespread, and effective early intervention leads to an improved outcome. Genetic causes account for 50-60% of HL in childhood. Genetic screening has the potential to identify individuals who pass the infant hearing screen but are at risk from late-onset/progressive HL. Otitis media (OM) is the most frequently diagnosed disease in childhood, but the majority of genes underlying OM susceptibility have yet to be identified. A number of genetic conditions, both syndromic and nonsyndromic, are associated with progressive HL, necessitating regular audiological assessment. At the other end of the lifespan, age-related hearing loss (ARHL) is a major disease burden. It is a complex disorder with environmental and genetic contributions. Despite a genetic contribution of 56-70%, genetic research into ARHL is relatively untapped. The effectiveness of adult hearing screening has not been established although simple internet-based speech-in-noise hearing tests could be readily implemented for large-scale screening. Hearing instruments are the primary treatment for permanent HL. It is likely that a precise genetic diagnosis, perhaps identifying the anatomical location of the HL, will increase personalisation of treatment and improve treatment outcome.
Original languageEnglish
Title of host publicationGenetics of deafness
EditorsBarbara Vona, Thomas Haaf
Place of PublicationBasel
PublisherS. Karger AG
Number of pages11
ISBN (Electronic)9783318058567
ISBN (Print)9783318058550
Publication statusPublished - 2016

Publication series

NameMonographs in Human Genetics


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