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Pediatric Hearing Loss: Advances in Early Detection, Intervention and Family-Centered Care

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Otolaryngology".

Deadline for manuscript submissions: 10 February 2027 | Viewed by 3333

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Dr. Daniel Holzinger

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Research Institute of Developmental Medicine, Johannes Kepler University, 4020 Linz, Austria
Interests: early intervention hearing loss; developmental language disorders; autism spectrum disorders; early identification of language and communication disorders; predictors of outcomes
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Dr. Johannes Hofer

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Research Institute of Developmental Medicine, Johannes Kepler University, 4020 Linz, Austria
Interests: early diagnosis of hearing loss; etiology of neurodevelopmental disorders; developmental and behavioural paediatrics
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue focuses on recent advances in the early detection and management of pediatric hearing loss. Topics include innovations in newborn hearing screening, interdisciplinary developmental care, and genetic insights, including emerging gene-targeted therapies. Cutting-edge interventions, such as personalized hearing aids and cochlear implants, are discussed alongside outcome predictors that guide individualized care.

Emphasizing multiprofessional and family-centered models, the issue highlights strategies that support children with congenital hearing loss—including those with additional disabilities—through parental engagement, continuity of care, and shared decision-making from genetic testing to intervention planning.

Contributions on novel clinical approaches, interprofessional diagnostics, family-centered care, and gene-based therapies are especially welcome.

Dr. Daniel Holzinger
Dr. Johannes Hofer
Guest Editors

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Keywords

pediatric hearing loss
early intervention
early identification of language and communication disorders
develop-mental language disorders
predictors of outcomes
newborn hearing screening
pediatric audiology

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12 pages, 461 KB

Open AccessArticle

Comprehensive Preschool Screening in Upper Austria for Early Detection of Hearing Loss: Prevalence, Follow-Up, and Outcomes of the Last Eight Years

by Veronika Moser, Julia Szegedi, Doris Detter-Biesl, Nina Rubicz, Lukas Scheuchenpflug and Paul Martin Zwittag

J. Clin. Med. 2026, 15(15), 6051; https://doi.org/10.3390/jcm15156051 - 4 Aug 2026

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Background/Objectives: Children with normal newborn hearing screening results can develop hearing loss from various causes during their first years of life. Since 2016, a hearing and speech-language pathology screening has been conducted annually in kindergartens in Upper Austria in children aged 4 to 5 years. If an abnormal result is found, further evaluation is recommended. Methods: Data from the kindergarten hearing screening from 2018 to 2025 and hearing and speech screening from 2022/2023 were retrospectively analyzed. In addition, a prospective questionnaire survey was conducted with the parents of children who had an abnormal hearing screening result in 2024/2025. The survey asked whether the parents followed the recommendation for further evaluation and what the outcome of that evaluation was. Results: From 2018 to 2025, between 14,975 (2024) and 17,101 (2020) children were screened annually. The prevalence of abnormal hearing screening results ranged from 5.89% (2020) to 8.17% (2022). Abnormal grammar and articulation were found in 18.68% and 68.28% of the in-depth analyzed screenings of 4–5-year-old children in 2022, respectively. A total of 209 questionnaires were evaluated in the prospective questionnaire study. Approximately 70% of the participating parents reported having their child undergo the recommended evaluation by an ORL specialist. According to the parents, the most frequent cause of hearing impairment was middle ear effusion or Eustachian tube dysfunction. No new cases of sensorineural hearing loss were diagnosed in this population of 209 children, according to the parents surveyed. Conclusions: Nationwide screening in kindergartens allows for the early detection of hearing loss in early childhood, enabling children to receive evaluation and treatment. This is supported by the fact that, according to their parents, almost a quarter of the children with abnormal hearing screening results received a diagnosis requiring treatment from an ORL specialist. Full article

(This article belongs to the Special Issue Pediatric Hearing Loss: Advances in Early Detection, Intervention and Family-Centered Care)

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29 pages, 822 KB

Open AccessSystematic Review

The Genetic Causes of Auditory Neuropathy: A Systematic Review

by Nathania Yong, Michelle Cao, Erin Anderson, Lilian Downie, Gary Rance, Jinzi Bai, Karen Liddle, Antonia Howard, Libby Smith, Valerie Sung and Jing Wang

J. Clin. Med. 2026, 15(11), 4260; https://doi.org/10.3390/jcm15114260 - 31 May 2026

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Abstract

Background/Objectives: Auditory neuropathy is a form of hearing loss marked by preserved outer hair cell function and abnormal or absent auditory brainstem responses. Monogenic causes play a significant role in its aetiology. This systematic review aims to identify the genetic causes of auditory neuropathy reported in the literature and to determine the diagnostic yield of genetic testing in affected individuals. Methods: A systematic search of MEDLINE, Embase, and PubMed was conducted. Studies were included if participants had a diagnosis of auditory neuropathy and if genetic testing results were reported with variant interpretation based on American College of Medical Genetics and Genomics criteria. Results/Discussion: Twenty-nine studies involving 441 children and adults with auditory neuropathy were included. Overall, 21 different genes and 136 pathogenic and likely pathogenic variants were found to be causative of auditory neuropathy, with both syndromic and non-syndromic presentations. Variants in OTOF were the most common cause, responsible for 59% of all genetic diagnoses found. A genetic diagnosis was confirmed in 195 of 362 individuals who underwent genetic testing, resulting in a diagnostic yield of 54%. After adjusting for study bias and new gene associations with AN, the diagnostic yield was 31%. Conclusions: This review identifies gene and variant-level associations with auditory neuropathy that enhance our understanding of the condition. It highlights the high diagnostic yield of genetic testing in auditory neuropathy which supports consideration of genetic testing early in the diagnostic pathway. A genetic diagnosis may support precision-based approaches to treatment, including cochlear implants and participation in gene therapy trials. Full article

(This article belongs to the Special Issue Pediatric Hearing Loss: Advances in Early Detection, Intervention and Family-Centered Care)

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