Back to Search
Start Over
Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III
- Source :
- The Laryngoscope. 126:E123-E128
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
Abstract
- Objectives/Hypothesis To analyze the clinical manifestations and genetic features of patients with hearing loss (HL) and incomplete partition (IP) type III malformation, and to evaluate speech performance after cochlear implantation (CI) in these patients. Study Design Individual retrospective cohort study. Methods Of 206 probands with inner ear malformations (IEMs), we constructed a homogeneous cohort of 11 genetically documented IP type III (DFNX2). Mutations affecting POU3F4 were classified as extension (n = 2), truncation (n = 3), large genomic deletion (n = 2), or missense substitution (n = 4). Postoperative outcomes were rigorously assessed with focus on POU3F4 genotypes and compared with 80 age-matched implantees without IEMs. Results HL in our cohort was prelingual in onset irrespective of degree. Serviceable hearing was obtained by wearing conventional hearing aids in three, and eight subjects required CI. No correlation was found between mutation types and initial auditory phenotype. As for the eight cochlear implantees, average Categories of Auditory Perception score was
- Subjects :
- Proband
medicine.medical_specialty
medicine.diagnostic_test
business.industry
Hearing loss
Case-control study
Retrospective cohort study
Audiology
03 medical and health sciences
0302 clinical medicine
Otorhinolaryngology
Severity of illness
Cohort
Medicine
Audiometry
medicine.symptom
030223 otorhinolaryngology
business
030217 neurology & neurosurgery
Cohort study
Subjects
Details
- ISSN :
- 0023852X
- Volume :
- 126
- Database :
- OpenAIRE
- Journal :
- The Laryngoscope
- Accession number :
- edsair.doi...........6e6a35d5d2456fbc3cc60f38922618f7
- Full Text :
- https://doi.org/10.1002/lary.25573