Abstract

Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

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Acknowledgements

This work was supported by US National Institute on Deafness and Other Communication Disorders grants RO1s DC003544, DC002842 and DC012049 to R.J.H.S. and US National Institute of Child Health and Human Development grants R01s HD044864 and HD079918 to M.R.S. M.A.K.B.-G. is supported by Great Ormond Street Hospital Children's Charity and the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. All authors thank their colleague A. Snik for his input to earlier versions of this manuscript.

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Affiliations

  1. Department of Pediatrics, St Antonius Hospital, PO BOX 2500, 3430 EM Nieuwegein, The Netherlands.

    • Anna M. H. Korver
  2. Molecular Otolaryngology and Renal Research Laboratories and the Genetics PhD Program, University of Iowa, Iowa City, Iowa, USA.

    • Richard J. H. Smith
  3. Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

    • Guy Van Camp
  4. Division of Pediatric Infectious Diseases and Immunology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

    • Mark R. Schleiss
  5. Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK.

    • Maria A. K. Bitner-Glindzicz
  6. Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York, USA.

    • Lawrence R. Lustig
  7. Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.

    • Shin-ichi Usami
  8. Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

    • An N. Boudewyns

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Contributions

Introduction (G.V.C. and A.N.B.), Epidemiology (A.M.H.K., M.A.K.B.-G. and M.R.S.); Mechanisms/pathophysiology (A.M.H.K., M.A.K.B.-G. and M.R.S.); Diagnosis, screening and prevention (G.V.C., S.U., A.M.H.K., M.R.S. and A.N.B.); Management (M.R.S. and L.R.L.); Quality of life (A.N.B. and A.M.H.K.); Outlook (R.J.H.S. and S.U.); Overview of the Primer (A.M.H.K. and A.N.B.).

Competing interests

The authors declare no competing interests.

Corresponding author

Correspondence to Anna M. H. Korver.

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DOI

https://doi.org/10.1038/nrdp.2016.94