Congenital Deafness, Suspicion of Congenital Deafness
Conditions
Keywords
Deafness, child
Brief summary
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
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).
Interventions
OTHERGenetic screening. No therapeutic intervention
Genetic screening using NGS technique. No therapeutic intervention
Sponsors
Instituto de Salud Pública y Laboral de Navarra
Biogipuzkoa Health Research Institute
DREAMgenics S.L.
Hospital CUF Porto, S.A.
Centro Hospitalar de Lisboa Central
University Hospital, Montpellier
University Hospital, Toulouse
Clinica Universidad de Navarra, Universidad de Navarra
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
No minimum to 17 Years
Healthy volunteers
No
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
*
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of mutation | 1 day | It will realized the extraction blood sample in the same day and clinical information will be collected also. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Phenotyping the mutation | 1 day | 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. |
Countries
France
Contacts
Primary ContactManuel Jesús M Manrique Rodriguez, ENT
Outcome results
None listed