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Child's Nervous System

Published in:

01-04-2015 | Review Paper

Genetic hearing impairment

Authors: Jovana Ječmenica, Aleksandra Bajec-Opančina, Dragan Ječmenica

Published in: Child's Nervous System | Issue 4/2015

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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Title: Genetic hearing impairment
Authors: Jovana Ječmenica
Aleksandra Bajec-Opančina
Dragan Ječmenica
Publication date: 01-04-2015
Publisher: Springer Berlin Heidelberg
Published in: Child's Nervous System / Issue 4/2015
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-015-2628-3

At a glance: The STEP trials

Springer Medicine

Genetic hearing impairment

Abstract

Introduction

Discussion

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Discussion

Conclusion

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