Moderate-Severe Hearing Loss in Children: A Diagnostic and Rehabilitative Challenge

Ciorba, Andrea; Corazzi, Virginia; Negossi, Laura; Tazzari, Rita; Bianchini, Chiara; Aimoni, Claudia

doi:10.5152/iao.2017.4162

Cited by 2 publications

(2 citation statements)

References 99 publications

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“…Hereditary hearing loss is the most common etiology of hearing loss in children (Morton & Nance 2006; Korver et al 2017), and genetic causes may be responsible for up to 50% of cases of adult-onset hearing loss, including late-adult-onset hearing loss (Van Eyken et al 2007a,b). Timely detection of hearing loss and intervention with hearing aids or CIs are key to prevent delays in speech, language, and cognitive skill development in children (Ciorba et al 2017; Kral 2017). Hearing rehabilitation by hearing aids or CIs in adults may be critical to the prevention of associated comorbidities such as depression, cognitive decline, and dementia (Livingston et al 2017, 2020; Mitchell et al 2020; Abidin et al 2021; Powell et al 2021; Trpchevska et al 2022).…”

Section: Introductionmentioning

confidence: 99%

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

Tropitzsch,

Schade-Mann,

Gamerdinger

et al. 2023

Ear &Amp; Hearing

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Objectives: The variability in outcomes of cochlear implantation is largely unexplained, and clinical factors are not sufficient for predicting performance. Genetic factors have been suggested to impact outcomes, but the clinical and genetic heterogeneity of hereditary hearing loss makes it difficult to determine and interpret postoperative performance. It is hypothesized that genetic mutations that affect the neuronal components of the cochlea and auditory pathway, targeted by the cochlear implant (CI), may lead to poor performance. A large cohort of CI recipients was studied to verify this hypothesis. Design: This study included a large German cohort of CI recipients (n = 123 implanted ears; n = 76 probands) with a definitive genetic etiology of hearing loss according to the American College of Medical Genetics (ACMG)/Association for Molecular Pathology (AMP) guidelines and documented postoperative audiological outcomes. All patients underwent preoperative clinical and audiological examinations. Postoperative CI outcome measures were based on at least 1 year of postoperative audiological follow-up for patients with postlingual hearing loss onset (>6 years) and 5 years for children with congenital or pre/perilingual hearing loss onset (≤6 years). Genetic analysis was performed based on three different methods that included single-gene screening, custom-designed hearing loss gene panel sequencing, targeting known syndromic and nonsyndromic hearing loss genes, and whole-genome sequencing. Results: The genetic diagnosis of the 76 probands in the genetic cohort involved 35 genes and 61 different clinically relevant (pathogenic, likely pathogenic) variants. With regard to implanted ears (n = 123), the six most frequently affected genes affecting nearly one-half of implanted ears were GJB2 (21%; n = 26), TMPRSS3 (7%; n = 9), MYO15A (7%; n = 8), SLC26A4 (5%; n = 6), and LOXHD1 and USH2A (each 4%; n = 5). CI recipients with pathogenic variants that influence the sensory nonneural structures performed at or above the median level of speech performance of all ears at 70% [monosyllable word recognition score in quiet at 65 decibels sound pressure level (SPL)]. When gene expression categories were compared to demographic and clinical categories (total number of compared categories: n = 30), mutations in genes expressed in the spiral ganglion emerged as a significant factor more negatively affecting cochlear implantation outcomes than all clinical parameters. An ANOVA of a reduced set of genetic and clinical categories (n = 10) identified five detrimental factors leading to poorer performance with highly significant effects (p < 0.001), accounting for a total of 11.8% of the observed variance. The single strongest category was neural gene expression accounting for 3.1% of the variance. Conclusions: The analysis of the relationship between the molecular genetic diagnoses of a hereditary etiology of hearing loss and cochlear implantation outcomes in a large German cohort of CI recipients revealed significant variabilities. Poor performance was observed with genetic mutations that affected the neural components of the cochlea, supporting the “spiral ganglion hypothesis.”

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Section: Introductionmentioning

confidence: 99%

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

Tropitzsch,

Schade-Mann,

Gamerdinger

et al. 2023

Ear &Amp; Hearing

View full text Add to dashboard Cite

show abstract

“…In the long run, effects on interpersonal communication, psychological well-being, quality of life, and economic independence can be observed. 1 , 2 , 3 …”

Section: Introductionmentioning

confidence: 99%

Does universal newborn hearing screening impact the timing of deafness treatment?

Faistauer

Silva

Dominguez

et al. 2022

Jornal de Pediatria

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Moderate-Severe Hearing Loss in Children: A Diagnostic and Rehabilitative Challenge

Cited by 2 publications

References 99 publications

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss

Does universal newborn hearing screening impact the timing of deafness treatment?

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