NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning

Study Overview
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Brief Summary
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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.

Detailed Description
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The aim of the study is to evaluate the diagnostic value of a new panel of gene in NGS study in children presenting : 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, 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).

Official Title
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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)

Conditions
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Congenital Deafness, Suspicion of Congenital Deafness

Intervention / Treatment
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* Other: Genetic screening. No therapeutic intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Retropective study Inclusion criteria: Age of onset of deafness between 0 and 17 years With a hearing loss of one or two senses with, on the ear most affected, a hearing loss more than 40 dB in mean audiometric loss in behavioural audiometry Availability of detailed information in Appendix 1: History, history and course of disease, associated symptoms, otoscopy data, radiology, treatments and hearing aids implemented. Availability of DNA samples stored in an existing collection. Consent to participate in the study (non-opposition) by the legal representative Exclusion Criteria: Exclusion criteria: Child with a known cause of observed deafness (meningitis, post-surgery or drug iatrogenic, trauma, infections, tumor) Family not willing to participate in the study Prospective study Inclusion criteria: Age of the child 0 to 6 months including corrected age having had on at least one of the two ears a lack of acoustic otoemissions and a lack of response in automated PEA, and a threshold of PEA at least on one ear at more than 40 dB. Availability of detailed information in Appendix 2: Personal history, family history of deafness, associated symptoms, tympanometry, otoscopy data, neonatal deafness test data. Collection of the consent of the legal representative Exclusion criteria: · Family not willing to participate in the study

Ages Eligible for Study
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Maximum Age: 17 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Genetic study in retrospective and prospective groups<br>Genetic screening using NGS technique in a retrospective and prospective groups. No therapeutic intervention | Other: Genetic screening. No therapeutic intervention<br>* Genetic screening using NGS technique. No therapeutic intervention<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence of mutation | It will realized the extraction blood sample in the same day and clinical information will be collected also. | 1 day | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 1 day | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Deafness, child