Congenital Deafness Clinical Trial
Official title:
Promote Personalized Medicine Based on Diagnostic Genomic Tools in Order to Innovate in the Early Detection of Child Deafness in the SUDOE Space (European International Project)
To assess the diagnostic value of NGS screnning in prelingually deafned children using a new designed chip, and to evaluate its interest in a the neonatal screening program for ddetecting congenitally deafned children.
The aim of the study is to evaluate the diagnostic value of a new panel of gene in NGS study
in children presenting :
1. A congenitally deafness : it is a retrospective study in children aged 0 to 17 yrs with
hearing thresholds over 40 dB in the best ear using adapted audiometric assessment,
2. A suspicion of deafness in babies aged 0 to 6 months having an abnormal response after
otoacoustic emissions and automated ABR assessment.
The main outcomes studied will be the finding of a pathogenic mutation (or several
mutations).
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