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Etiological diagnosis in the hearing impaired newborn: proposal of a flow chart
E M R De Leenheer1, S Janssens, E Padalko
1Department of Otorhinolaryngology and Head & Neck Surgery, Ghent University Hospital & Ghent University, Ghent, Belgium. Els.DeLeenheer@ugent.be
Insights
A new stepwise approach helps identify the cause of congenital sensorineural hearing loss in newborns. This protocol prioritizes common genetic (Cx26/Cx30) and infectious (cytomegalovirus) factors to streamline diagnosis.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Universal newborn hearing screening is standard in industrialized nations.
- Established methods exist for identifying and rehabilitating congenital hearing loss.
- A standardized etiological protocol for congenital hearing loss is needed.
Purpose of the Study:
- To develop a standardized etiological protocol for diagnosing congenital hearing loss.
- To identify key investigations for determining the cause of congenital hearing loss.
- To limit extensive testing by focusing on prevalent causes.
Main Methods:
- Extensive literature review.
- Analysis of investigations for identifying causes of congenital hearing loss.
- Development of a stepwise diagnostic approach.
Main Results:
- A stepwise approach for detecting the cause of congenital sensorineural hearing loss was created.
- The protocol prioritizes common genetic and infectious etiologies.
- It guides further investigations based on initial findings.
Conclusions:
- Prioritize ruling out connexin (Cx26/Cx30) mutations and infectious causes like cytomegalovirus.
- Consider toxoplasmosis and rubella if indicated.
- Reserve comprehensive testing for cases where initial investigations are inconclusive.
Objective:
Most industrialized countries have introduced some form of universal newborn hearing screening program. Both identification and rehabilitation of hearing loss in newborns have evolved to an acceptable standard and the need for a standardized etiological protocol is emerging.
Methods:
Extensive literature search to determine which investigations can help identifying the cause of congenital hearing loss and how to limit extensive testing in these children by taking into account the most prevalent causes.
Findings:
A stepwise approach to detect the cause of hearing loss in children with congenital sensorineural hearing loss was developed.
Conclusion:
In general it is advised to first rule out Cx26/Cx30 and infectious causes (cytomegalovirus and, if indicated, toxoplasmosis and rubella), and to preserve more extensive investigations for those children in whom these causes do not explain the hearing loss.
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