Bilateral congenital deafness: What investigations should be performed?
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.
Hals-Nasen-Ohren-Universitätsklinik, University Hospital Basel, Switzerland; Hals-Nasen-Ohren-Klinik, Universitätskinderspital beider Basel, Switzerland; Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Nicolas
N
Gürtler
Hals-Nasen-Ohren-Klinik, Children's Hospital Zurich, Switzerland; Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Claudine
C
Gysin
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Nevenka
N
Schmid
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Claudia
C
Pieren
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Mattheus
M
Vischer
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Stefan
S
Schumacher
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Peter
P
Oppermann
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Daniel
D
Leuba
Working Group Paediatric Otolaryngology, Swiss Society of Otolaryngology.
Dorothée
D
Veraguth
D003586:Cytomegalovirus Infections / Q000151:congenital / Q000175:diagnosis; D003638:Deafness / Q000151:congenital* / Q000000981:diagnostic imaging / Q000209:etiology*; D003941:Diagnostic Techniques, Ophthalmological; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000000981:diagnostic imaging / Q000209:etiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009460:Neurologic Examination