Congenital Profound Hearing Loss
Conditions
Keywords
Auditory neuropathy, DFNB9, Children, Hearing loss, Deafness
Brief summary
Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9). Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.
Detailed description
ANAD is not a rare type of hearing loss. Nevertheless, its profile is heterogeneous and the pathology remain underdiagnosed. The investigators will screen all new patients with bilateral severe to profound HL, looking for DFNB9. They will analyse their electrophysiology (auditory potential, and otoacoustic emission), and their audio-vestibular profile, at an early stage and one year after inclusion. All patients will be seen in the genetic clinic. Also, the investigators will analyse all patients with ANAD profile and patients known with ANAD. All informations will provide precise data base to allow a better understanding of the pathology. It might also lead to select the best candidates for future gene therapy
Interventions
OTHERData collection
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
GENETICGenetic analysis
Research of mutation and identification of genetic panel as part of care
Sponsors
Assistance Publique - Hôpitaux de Paris
URC-CIC Paris Descartes Necker Cochin
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
No minimum to 25 Years
Healthy volunteers
No
Inclusion criteria
G1a / Inclusion Criteria: * Child from 0 to 3 years old * Child with severe to profound bilateral deafness newly diagnosed with: * Average hearing threshold\> 70 decibel on each ear * and / or no response to 70 decibel PEA on each ear * and / or no response to ASSR G1b / Inclusion Criteria: * Child under 16 * Child with newly diagnosed hearing neuropathy : tonal/vocal dissociation (when this is possible), and/or modified PEA, and/or discordant ASSR, and/or OEA present. G2 / Inclusion Criteria: * Adult patient under 25 or child * Patient with deafness with auditory neuropathy * Patient known to have 1 or 2 mutations of the otoferlin protein
Exclusion criteria
* Other type of deafness such as : unilateral deafness, deafness of transmission, malformation syndrome, known genetic familial deafness not DFNB9 * Patient without medical insurance * Lack of consent to DNA sampling, of one or both biological parents (consent of the care)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of deafness caused by DFNB9 | 3 months | Prevalence and type of bi-allelic pathogenic changes Otoferlin Molecular analysis will be done by Next Generation Sequencing Capture method |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis | 1 day | ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz |
| Audiological characteristics in free fields at diagnosis | 1 day | audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields |
| Audiological characteristics in separate ears at diagnosis | 1 day | audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears |
| Audiological characteristics in free fields at 12 months or last record | 12 months | audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields |
| Audiological characteristics in separate ears at 12 months or last record | 12 months | audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears |
| Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis | 1 day | PEA thresholds per ear |
| Electrophysiological characteristics : auditory Steady State Response (ASSR) at 12 months or last record | 12 months | ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz |
| Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis | 1 day | OEAs status |
| Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record | 12 months | OEAs status |
| Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis | 1 day | PEOM |
| Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record | 12 months | PEOM |
| Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis | 1 day | VHIT |
| Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record | 12 months | VHIT |
| Caloric Tests at diagnosis | 1 day | Caloric Tests |
| Caloric Tests at 12 months or last record | 12 months | Caloric Tests |
| Clinical development scale at diagnosis | 1 day | For child under 3 years with : walk age, sitting age and head held age |
| Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record | 12 months | PEA thresholds per ear |
| Clinical development scale at 12 months or last record | 12 months | For child under 3 years with : walk age, sitting age and head held age |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORNathalie LOUNDON, MD
Assistance Publique - Hôpitaux de Paris
Outcome results
None listed