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 …
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 …
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 …
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
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 …
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 …
successful neuroprosthetic treatments developed to date. Although outcomes vary, CIs are …
Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8
Patients with mutations in the TMPRSS3 gene suffer from recessive deafness
DFNB8/DFNB10. For these patients, cochlear implantation is the only treatment option. Poor …
DFNB8/DFNB10. For these patients, cochlear implantation is the only treatment option. Poor …
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 …
with more than 120 genes and thousands of different alleles known. Primary treatments are …
A comprehensive study on the etiology of patients receiving cochlear implantation with special emphasis on genetic epidemiology
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 …
profound sensorineural hearing loss. The aim of this study was to investigate the etiology of …
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 …
clinical factors are not sufficient for predicting performance. Genetic factors have been …
Identifying children with poor cochlear implantation outcomes using massively parallel sequencing
Cochlear implantation is currently the treatment of choice for children with severe to
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …
profound hearing impairment. However, the outcomes with cochlear implants (CIs) vary …