NGS Assessment of Congenitally Deafned Children and Neonatal Deafness Screnning (GHELP)

University of Navarra

Status

Unknown

Conditions

Suspicion of Congenital Deafness

Congenital Deafness

Treatments

Other: Genetic screening. No therapeutic intervention

Study type

Observational

Funder types

Other

Identifiers

NCT04350619

GHELP

Details and patient eligibility

About

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.

Full description

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).

Enrollment

220 estimated patients

Sex

All

Ages

Under 17 years old

Volunteers

No Healthy Volunteers

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