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Genetic hearing impairment

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Abstract

Introduction

Three out of 1000 newborns are affected by a hearing loss, one of these being profound congenital deafness, whereas in the population of children treated in the intensive care unit, the incidence is 1:50. The purpose of this paper is to show in which genetic diseases and syndromes that hearing impairment can occur.

Discussion

A large number of pathological conditions, (genetic, infectious, and metabolic) can manifest themselves in a conductive or sensorineural hearing loss. Nonsyndromic autosomal recessive hearing loss is found in 56 % of cases, syndromic recessive in 30 %, nonsyndromic autosomal dominant in 12 %, and nonsyndromic related to the X chromosome and mitochondrial in 2 % of the cases.

Conclusion

To make a diagnosis, the knowledge of clinical features of genetic syndromes is of paramount importance. Complete evaluation includes pediatric examination, bone and soft tissue radiological visualization, i.e., computed tomography and nuclear magnetic resonance, and finally genetic tests in cases where a hereditary disorder is suspected or identified.

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Authors and Affiliations

  1. Unit of Audiology and Neurootology, Institute for Mother and Child Health Care of Serbia “Dr Vukan Čupić”, Radoja Dakica 8-12 Street, Belgrade, 11000, Serbia

    Jovana Ječmenica & Aleksandra Bajec-Opančina

  2. Institute for Forensic Medicine “Milovan Milovanović”, Belgrade, Serbia

    Dragan Ječmenica

Authors
  1. Jovana Ječmenica
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  2. Aleksandra Bajec-Opančina
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  3. Dragan Ječmenica
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Correspondence to Jovana Ječmenica.

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Ječmenica, J., Bajec-Opančina, A. & Ječmenica, D. Genetic hearing impairment. Childs Nerv Syst 31, 515–519 (2015). https://doi.org/10.1007/s00381-015-2628-3

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  • DOI: https://doi.org/10.1007/s00381-015-2628-3

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