Bilateral congenital deafness: What investigations should be performed?

Nicolas Gürtler,Claudia Pieren ,Peter Oppermann,Daniel Leuba,Nevenka Schmid,Mattheus Vischer,Stefan Schumacher,Claudine Gysin,Dorothée Veraguth

doi:10.4414/smw.2017.14416

Abstract

The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres. PubMed Search from 1985 to March 2016 with specific search terms; study selection according to inclusion/exclusion criteria; narrative analysis by use of defined criteria and question-naire. Ninety-two studies were finally included in this review. Forty studies investigated more than a single aetiology. Overall frequencies of aetiological parameters investigated were: genetic (47 studies), radiological (35), ophthalmic (35), serological (32), cardiac (25), renal (14), endocrine (12), neurological (8). Most of the studies were retrospective and various limitations such as poor population description, incomplete data or deficiencies in methodological quality were frequently detected. The variability detected in the investigative approach chosen by Swiss referral centres reflects the heterogeneous data seen in the literature. The evidence in the literature regarding an appro-priate evaluation is mostly of low quality and difficult to assess owing to high heterogeneity. Nevertheless, imaging, genetic testing, neuropaediatric and ophthalmological evaluations, electrocardiograms and cytomegalovirus analysis have been identified as examinations to be included in the assessment of children with congenital SNHL. There is a need for international consensus on the various issues of such an evaluation, such as choice of investigations and diagnostic criteria.

Highlights

The prevalence of bilateral congenital sensorineural hearing loss (SNHL) ranges between 1 and 3% in industrialised countries
The evidence in the literature regarding an appropriate evaluation is mostly of low quality and difficult to assess owing to high heterogeneity
Imaging, genetic testing, neuropaediatric and ophthalmological evaluations, electrocardiograms and cytomegalovirus analysis have been identified as examinations to be included in the assessment of children with congenital SNHL

Summary

Introduction

The prevalence of bilateral congenital sensorineural hearing loss (SNHL) ranges between 1 and 3% in industrialised countries. The timely detection of congenital SNHL is of utmost importance as hearing therapy initiated before the age of 2 years (prior to the critical period for auditory development and speech acquisition) shows better results than therapy begun at a later age [2] For this reason, universal newborn hearing screening was successfully introduced in many countries, including Switzerland since 1999, with the aim of detecting SNHL in the first few months of life [3, 4]. This study aimed to review the literature on assessing the aetiology of congenital bilateral SNH and to analyse the various investigations. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres. There is a need for international consensus on the various issues of such an evaluation, such as choice of investigations and diagnostic criteria

Methods

Results

Discussion

Conclusion