This study was carried out in a qualitative research type and phenomenological design since it was aimed to determine the life experiences of the parents of deaf children. The study sample consisted of 20 parents of deaf children registered in a special education and rehabilitation center who spoke Turkish and were literate and did not have hearing loss. The data were collected through in-depth interviews in Istanbul between December and January 2022. Colaizzi's phenomenological interpretation method was used in qualitative data analysis. It was determined that parents of deaf children experienced anxiety, sadness, and happiness during diagnosis. They lacked information at first, but then they gained knowledge in the process, and it was not easy to accept this process. They stated that having a deaf child requires more time, responsibility, and effort than other children, this situation affects their social life, and they experience interpersonal conflicts. When parents were asked how they coped, they said they did it through prayer, social support, or time to themselves. It can be recommended to apply psychosocial intervention programs to the parents of deaf children, especially their mothers, from the first diagnosis process.

Preconception or prenatal carrier screening for hereditary deafness is an effective early intervention strategy to reduce the incidence of newborn deafness, but current research is limited. This study aimed to investigate the carrier frequencies of common deafness genes in the Chinese population and to follow up on pregnancy outcomes in high-risk couples. Carrier screening for common deafness genes in the Chinese population, including the GJB2 and SLC26A4 genes, was performed using next-generation sequencing technology. Of the 9,993 subjects screened, the carrier rate was 2.86% for the GJB2 gene and 2.63% for the SLC26A4 gene. Of the six high-risk couples, four made alternative reproductive decisions (three with prenatal diagnosis and one with preimplantation genetic testing), with consequent successful termination of the birth of two affected fetuses. The frequencies of preconception or prenatal carrier screening for the deafness genes GJB2 and SLC26A4 in 9,993 subjects from China in this study were 2.86% and 2.63%, respectively. In addition, four out of six high-risk couples made alternative reproductive decisions, followed by the successful prevention of the birth of two affected fetuses. These findings confirmed the clinical utility of preconception or prenatal carrier screening for hereditary deafness.

Hearing loss stands as the most prevalent sensory deficit among humans, posing a significant global health challenge. Projections indicate that by 2050, approximately 10% of the world's population will grapple with disabling hearing impairment. While approximately half of these cases have a genetic etiology, traditional interventions such as hearing aids and cochlear implants do not completely restore normal hearing. The absence of biological treatment has prompted significant efforts in recent years, with a strong focus on gene therapy to address hereditary hearing loss. Although several studies have exhibited promising recovery of common forms of genetic deafness in mouse models, existing challenges must be overcome to make gene therapy applicable in the near future. Herein, we summarize the primary gene therapy strategies employed over past years, provide an overview of the recent achievements in the preclinical studies for genetic hearing loss, and outline the current key obstacles to cochlear gene therapy.

Congenital deafness is a major pediatric problem, affecting about 1.5-3 per 1000 newborns. The early treatment through cochlear implantation and auditory rehabilitation has been a historic milestone. Early diagnosis of congenital deafness is an essential requirement to obtain the best results, which is achieved through neonatal screening, a diagnostic practice that we began systematically at the Hospital Clínico in Valencia (Spain) 30 years ago.

Noise induces oxidative stress in the cochlea followed by sensory cell death and hearing loss. The proof of principle that injections of antioxidant vitamins and Mg²⁺ prevent noise-induced hearing loss (NIHL) has been established. However, effectiveness of oral administration remains controversial and otoprotection mechanisms unclear. Using auditory evoked potentials, quantitative PCR and immunocytochemistry, we explored effects of oral administration of vitamins A, C, E and Mg²⁺ (ACEMg) on auditory function and sensory cell survival following NIHL in rats. Oral ACEMg reduced auditory thresholds shifts after NIHL. Improved auditory function correlated with increased survival of sensory outer hair cells. In parallel, oral ACEMg modulated the expression timeline of antioxidant enzymes in the cochlea after NIHL. There was increased expression of Glutathione peroxidase-1 and Catalase at 1 and 10 days, respectively. Also, pro-apoptotic Caspase-3 and Bax levels were diminished in ACEMg-treated rats, at 10 and 30 days, respectively, following noise overstimulation, whereas, at day 10 after noise exposure, the levels of anti-apoptotic Bcl-2, were significantly increased. Therefore, oral ACEMg improves auditory function by limiting sensory hair cell death in the auditory receptor following NIHL. Regulation of the expression of antioxidant enzymes and apoptosis-related proteins in cochlear structures is involved in such otoprotective mechanism.

Recently, the indications for Cochlear Implant (CI) have also been extended to subjects with Single Sided Deafness (SSD) in order to restore binaural hearing. The primary objective of this study was to investigate the advantages of CI following one year of usage in SSD subjects. Secondarily we want to assess the long-term stability of the CI. 57 participants performed a complete audiological assessment (speech audiometry in quiet and in noise and localization test). For each was also evaluated subjective hearing profile (with Speech Spatial and Qualities_SSQ questionnaire) and the impact of tinnitus (with the use of Tinnitus Handicap Inventory_THI questionnaire) After one year of CI usage, we observed a significant improvement in speech-to-noise ratio, in sound localization abilities, in the Speech (p-value 0.001) and Spatial (p-value 0.001) subscales of the SSQ questionnaire and in THI questionnaire (p-value 0.001). The improvements in speech in noise and localization abilities and the reduction of the SSQ and THI questionnaires scores were maintained over time (6th to 60th month follow-up). Only eight participants did not fully utilize the CI. CI in SSD represents an effective method for improving speech recognition in noisy environments, restoring sound localization abilities, reducing tinnitus and improve subjective listening skills.

Single-sided deafness (SSD) refers to a condition where there is severe to profound Sensorineural hearing loss in one ear, while the other ear has normal or near-normal hearing. SSD can significantly impact an individual's ability to localize sounds, understand speech in noisy environments, and maintain spatial awareness, often resulting in a reduced quality of life and increased social isolation. In children with unilateral deafness, it can impede spoken language development and potentially impact cognitive abilities. Historically, there was a misconception that the unaffected ear could adequately support speech development in early cases and provide acceptable hearing function in adults. Consequently, SSD was frequently undertreated. However, advances in technology and a deeper understanding of the psychological and developmental impact of SSD have led to a shift in management strategies. Various treatment options are available for addressing SSD, but ongoing debate surrounds the most effective approach. These options include cochlear implants (CI), contra-lateral-routing-of-signal (CROS) devices, and bone conduction devices (BCDs). The aim of this study is to review the scientific evidence on different treatment options for SSD and compare their impact on the quality of life of individuals with this condition.