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).
Study Type
OBSERVATIONAL
Enrollment
220
Genetic screening using NGS technique. No therapeutic intervention
Chu Montpellier
Montpellier, France
Prevalence of mutation
It will realized the extraction blood sample in the same day and clinical information will be collected also.
Time frame: 1 day
Phenotyping the mutation
Clinical information for each patient will be define for the following variables: age and gender, medical antecedents, audiometric data, other syndromic syntomps, ear radiologic data and type of treatment for treating the hearing loss.
Time frame: 1 day
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