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Bilateral congenital deafness: What investigations should be performed?
Nicolas Gürtler1, Claudine Gysin2, Nevenka Schmid3
1Hals-Nasen-Ohren-Universitätsklinik, University Hospital Basel, Switzerland; Hals-Nasen-Ohren-Klinik, Universitätskinderspital beider Basel, Switzerland; Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Insights
Early identification of congenital sensorineural hearing loss (SNHL) is possible with newborn screening. However, there
Area of Science:
- Pediatrics
- Genetics
- Ophthalmology
Background:
- Newborn hearing screening enables earlier diagnosis of congenital sensorineural hearing loss (SNHL).
- Clarifying the cause of SNHL offers significant benefits for affected children.
- Current guidelines lack consensus on recommended diagnostic examinations.
Purpose of the Study:
- To review the literature on investigations for congenital SNHL etiology.
- To compare management policies in Swiss referral centers.
Main Methods:
- A comprehensive PubMed search was conducted from 1985 to March 2016.
- Studies were selected based on predefined inclusion/exclusion criteria.
- A narrative analysis of selected studies was performed.
Main Results:
- Ninety-two studies were included, with 40 investigating multiple etiologies.
- Commonly investigated etiological parameters included genetic, radiological, and ophthalmic factors.
- Many studies were retrospective and exhibited methodological limitations.
Conclusions:
- Literature evidence for evaluating congenital SNHL is often low-quality and heterogeneous.
- Recommended evaluations include imaging, genetic testing, and specific clinical assessments.
- An international consensus is needed for standardized diagnostic approaches and criteria.
Background:
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.
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.
Methods:
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.
Results:
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.
Conclusions:
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.
