Objective: To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors.
Methods: Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations.
Results: Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth (65.4%, 85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies.
Conclusions: In our studies, about 36.9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Exploring the purpose and stages of patient and public involvement and engagement (PPIE) in audiology research: a case study approach.
Res Involv Engagem
January 2025
Patient Researcher and PPI Lead, College of Health and Life Sciences, Aston University, Birmingham, UK.
Background: Patient and Public Involvement and Engagement (PPIE) has become an integral component of contemporary audiology research. It aims to capture diverse views and experiences, essential for evaluating the long-term impact of technological advancements and care models on individuals. Traditional inclusion methods, such as focus groups, may exclude individuals with additional needs or communication difficulties, necessitating the development of more inclusive approaches.
View Article and Find Full Text PDFAnatomical investigation of safety determining factors for keyhole drilling trajectories for robotic cochlear implant surgery.
Eur Arch Otorhinolaryngol
January 2025
Vrije Universiteit Brussel, Brussels Health Centre, Brussels, Belgium.
Purpose: Cochlear implants (CI) are the most successful bioprosthesis in medicine probably due to the tonotopic anatomy of the auditory pathway and of course the brain plasticity. Correct placement of the CI arrays, respecting the inner ear anatomy are therefore important. The ideal trajectory to insert a cochlear implant array is defined by an entrance through the round window membrane and continues as long as possible parallel to the basal turn of the cochlea.
View Article and Find Full Text PDFOptimising diagnostics for hard-of-hearing infants: factors associated with successful MRI scanning without general anaesthesia.
Eur Arch Otorhinolaryngol
January 2025
Otolaryngology - Head and Neck Surgery, section Ear & Hearing, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, Amsterdam, 1081 HV, The Netherlands.
Purpose: Scanning during infancy is often required in otology, preferably without general anaesthesia. This study aims to determine the success rate of MRI of the head without general anaesthesia for infants, and to identify predictors for a successful scan.
Methods: Data was extracted from the electronic patient file for patients who received MRI of the head without general anaesthesia between 01-01-2019 and 31-12-2022 at an age younger than 6 months.
The knowledge, experience, and awareness of professionals working with older adults on the auditory-cognitive interactions.
J Commun Disord
December 2024
Department of Rehabilitation Sciences, Ghent University, Corneel Heymanslaan 10 (2P1), Ghent 9000, Belgium; Department of Oto-rhino-laryngology, Ghent University Hospital, Corneel Heymanslaan 10 (2P1), Ghent 9000, Belgium.
Introduction: Hearing loss is a commonly occurring condition with dementia. Research already presented a theoretical framework for the auditory-cognitive interactions, though it is still unclear if and how professionals beyond audiologists act upon this interactions in clinical practice.
Methods: An online 64-item questionnaire was developed and evaluated respondents' work setting as well as their knowledge, experience, and awareness regarding hearing loss, cognitive decline, and the auditory-cognitive link.
The impact of otitis media on speech production in children: A systematic review.
J Commun Disord
December 2024
CQUniversity, School of Health, Medical and Applied Sciences, Appleton Institute, Australia.
Introduction: Otitis Media (OM) is one of the most common infections in young children and can create fluctuating hearing loss. Despite the commonality of this condition, there is a lack of conclusive evidence on its impact on speech production outcomes. Therefore, the aim of this systematic review was to identify the impact of otitis media on speech production in children.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!