Purpose: Previous studies of connexin-related hearing loss have typically reported on mixed age groups or adults. To further address epidemiology and natural history of connexin-related hearing loss, we conducted a longitudinal study in an ethnically diverse cohort of infants and toddlers under 3 years of age. Our study compares infants with and without connexin-related hearing loss to examine differences in the prevalence of connexin and non-connexin-related hearing loss by ethnic origin, detection by newborn hearing screening, phenotype, neonatal risk factors, and family history. This is the first study to differentiate infants with and without connexin-related hearing loss.
Methods: We enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed. Demographic, family history, newborn hearing screening data, perinatal, and audiologic records were analyzed.
Results: Genetic testing identified biallelic Cx26/30 hearing loss-associated variants in 24.7% of infants with a significantly lower prevalence in Hispanic infants (9.1%). Eighty-two infants underwent newborn hearing screening; 12 infants passed, 3 had connexin-related hearing loss. No differences in newborn hearing screening pass rate, neonatal complications, or hearing loss severity were detected between infants with and without connexin-related hearing loss. Family history correlates with connexin-related hearing loss.
Conclusions: Connexin-related hearing loss occurs in one quarter of infants in an ethnically diverse hearing loss population but with a lower prevalence in Hispanic infants. Not all infants with connexin-related hearing loss fail newborn hearing screening. Family history correlates significantly with connexin-related hearing loss. Genetic testing should not be deferred because of newborn complications. These results will have an impact on genetic testing for infant hearing loss.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/gim.0b013e31817708fa | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
Turk J Pediatr
November 2024
Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.
Background: Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.
View Article and Find Full Text PDFReversing Cochlear Nucleus Maladaptive Plasticity via Customized Extracochlear Stimulation: A New Approach for Tinnitus Treatment.
Adv Sci (Weinh)
January 2025
ENT Institute and Department of Otolaryngology, Eye & ENT Hospital of Fudan University, Shanghai, 200031, China.
Tinnitus, a widespread condition affecting numerous individuals worldwide, remains a significant challenge due to limited effective therapeutic interventions. Intriguingly, patients using cochlear implants (CIs) have reported significant relief from tinnitus symptoms, although the underlying mechanisms remain unclear and intracochlear implantation risks cochlear damage and hearing loss. This study demonstrates that targeted intracochlear electrical stimulation (ES) in guinea pigs with noise-induced hearing loss reversed tinnitus-related maladaptive plasticity in the cochlear nucleus (CN), characterized by reduced auditory innervation, increased somatosensory innervation, and diminished inhibitory neural networks.
View Article and Find Full Text PDFNovel insights into mechanisms and therapeutics for presbycusis.
Heliyon
January 2025
Department of Laboratory Medicine, Fujian Medical University, Fuzhou, 350122, China.
Presbycusis, also referred to as age-related hearing loss, poses a substantial burden on both individuals and society. The hallmark of presbycusis is a progressive decrease in auditory sensitivity. Irreversible hearing loss occurs due to the limited regenerative capacity of spiral neurons and peripheral cochlear hair cells (HCs).
View Article and Find Full Text PDFRevisiting Age-Related Normative Hearing Levels in Korea.
J Korean Med Sci
January 2025
Department of Otolaryngology-Head and Neck Surgery, College of Medicine, Hanyang University, Seoul, Korea.
Background: Hearing level reference values based on the results of recent audiometry have not been established for the general population of South Korea. This study aimed to evaluate the mean hearing levels of each age group and to measure the annual progression of hearing loss.
Methods: We used the database of the eighth and ninth Korea National Health and Nutrition Examination Survey from 2020 to 2022, and included participants with normal tympanic membranes and without occupational noise exposure.
Work-related temporary hearing loss and associated factors among textile industry workers in Amhara region, Ethiopia: a cross-sectional study.
BMJ Open
December 2024
Department of Environmental and Occupational Health and Safety, College of Medicine and Health Science, Institute of Public Health, University of Gondar, Gondar, Ethiopia.
Objectives: This study was designed to assess occupational noise exposure levels, prevalence of temporary hearing loss and associated factors among textile industry workers in Amhara region, Ethiopia.
Design: An institution-based, cross-sectional study was conducted between June and July 2022. Participants were selected via a simple random sampling technique.
Want 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!