Aetiological diagnosis of child deafness: CODEPEH recommendations

Area of Science:

• Genetics
• Medical Imaging
• Audiology

Background:

• Neonatal screening confirms deafness, but a consensus protocol for etiological diagnosis is lacking.
• Advances in molecular genetics and diagnostic imaging necessitate updated guidance.

Purpose of the Study:

• To provide professionals with evidence-based recommendations for etiological diagnosis of childhood deafness.
• To establish a consensus protocol for guiding the diagnostic process post-neonatal screening.

Main Methods:

• Drafting of a recommendations document by the Spanish Commission for the Early Detection of Child Deafness (CODEPEH).
• Based on the most recent scientific evidence available.

Main Results:

• Provides guidance for professionals on making decisions regarding etiological diagnosis.
• Emphasizes the need for prompt diagnosis without impeding early intervention.

Conclusions:

• Early identification of deafness causes offers significant advantages.
• Benefits include preventing unnecessary family distress, reducing healthcare costs, and providing prognostic information for therapeutic actions.