Congenital hearing loss

AMH Korver, RJH Smith, G Van Camp… - Nature reviews Disease …, 2017 - nature.com
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent
chronic conditions in children. In the majority of developed countries, neonatal hearing …

Auditory synaptopathy, auditory neuropathy, and cochlear implantation

AE Shearer, MR Hansen - Laryngoscope investigative …, 2019 - Wiley Online Library
Cochlear implantation has become the standard‐of‐care for adults and children with severe
to profound hearing loss. There is growing evidence that qualitative as well as quantitative …

Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care

AE Shearer, RJH Smith - Otolaryngology–Head and Neck …, 2015 - journals.sagepub.com
Objective To evaluate the use of new genetic sequencing techniques for comprehensive
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …

[HTML][HTML] Auditory neuropathy spectrum disorders: from diagnosis to treatment: literature review and case reports

RD De Siati, F Rosenzweig, G Gersdorff… - Journal of clinical …, 2020 - mdpi.com
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by deteriorated speech perception, despite relatively preserved pure-tone …

Cochlear health and cochlear-implant function

KC Schvartz-Leyzac, DJ Colesa, DL Swiderski… - Journal of the …, 2023 - Springer
The cochlear implant (CI) is widely considered to be one of the most innovative and
successful neuroprosthetic treatments developed to date. Although outcomes vary, CIs are …

Association of genetic diagnoses for childhood-onset hearing loss with cochlear implant outcomes

RJ Carlson, T Walsh, JB Mandell… - … –Head & Neck …, 2023 - jamanetwork.com
Importance In the US, most childhood-onset bilateral sensorineural hearing loss is genetic,
with more than 120 genes and thousands of different alleles known. Primary treatments are …

[HTML][HTML] Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8

W Du, V Ergin, C Loeb, M Huang, S Silver… - Molecular Therapy, 2023 - cell.com
Patients with mutations in the TMPRSS3 gene suffer from recessive deafness
DFNB8/DFNB10. For these patients, cochlear implantation is the only treatment option. Poor …

[HTML][HTML] A comprehensive study on the etiology of patients receiving cochlear implantation with special emphasis on genetic epidemiology

M Miyagawa, SY Nishio, SI Usami - Otology & Neurotology, 2016 - journals.lww.com
Objective: Cochlear implantation is the most important treatment currently available for
profound sensorineural hearing loss. The aim of this study was to investigate the etiology of …

[HTML][HTML] Variability in cochlear implantation outcomes in a large German cohort with a genetic etiology of hearing loss

A Tropitzsch, T Schade-Mann, P Gamerdinger… - Ear and …, 2023 - journals.lww.com
Objectives: The variability in outcomes of cochlear implantation is largely unexplained, and
clinical factors are not sufficient for predicting performance. Genetic factors have been …

[HTML][HTML] Identifying children with poor cochlear implantation outcomes using massively parallel sequencing

CC Wu, YH Lin, TC Liu, KN Lin, WS Yang, CJ Hsu… - Medicine, 2015 - journals.lww.com
Cochlear implantation is currently the treatment of choice for children with severe to
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …