Use of a Network-Based Method to Identify Latent Genes Associated with Hearing Loss in Children

Hearing loss is a total or partial inability to hear. Approximately 5% of people worldwide experience this condition. Hearing capacity is closely related to language, social, and basic emotional development; hearing loss is particularly serious in children. The pathogenesis of childhood hearing loss remains poorly understood. Here, we sought to identify new genes potentially associated with two types of hearing loss in children: congenital deafness and otitis media. We used a network-based method incorporating a random walk with restart algorithm, as well as a protein-protein interaction framework, to identify genes potentially associated with either pathogenesis. A following screening procedure was performed and 18 and 87 genes were identified, which potentially involved in the development of congenital deafness or otitis media, respectively. These findings provide novel biomarkers for clinical screening of childhood deafness; they contribute to a genetic understanding of the pathogenetic mechanisms involved.

Attitudes of deaf individuals towards genetic testing of genes known to cause hearing loss

Congenital deafness is one of the most common birth defects reported. Approximately 70% of congenital deafness is non-syndromic, and approximately 80% of non-syndromic hearing loss results from a genetic cause. Middleton et al.’s1998 study highlighted the negative attitudes of culturally Deaf individuals towards genetic testing for genes known to cause hearing loss. While studies concerning genetic testing for deafness genes reference Middleton’s study, to our knowledge a re-evaluation of the attitudes of Deaf individuals towards genetic testing has not been conducted recently. The purpose of this study is to re-establish attitudes of Deaf individuals towards genetic testing of genes known to cause hearing loss. A computer-based questionnaire was distributed to members of the Deaf community. Responses of participants were recorded and analyzed. The primary investigator then attended Deaf community events and the 2015 Alabama Association of the Deaf Conference, and recruited individuals interested in participating in the study. The surveys were distributed to these individuals and their anonymous responses were analyzed. Our results show there are more positive attitudes within the Deaf community towards genetic counseling, genetic testing, and prenatal testing of genes known to cause hearing loss than were previously documented, although negative attitudes are still present. Additionally, our study shows there is a desire among members of the Deaf community to learn more about and potentially receive these services, despite the fact they are rarely offered by healthcare providers.

Keypoints to Successful Newborn Hearing Screening. Thirty Years of Experience and Innovations

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. Neonatal hearing screening is successful in most developed countries. Its implementation has been slow due to the multiple difficulties that its universal application entails since it involves several health professionals and must be carried out, in a short time interval after birth. In addition, it must have a good performance that prevents the overload of other services and that requires experience and continuous adjustments in search of proper protocols. The aim of this review is to shed some light on some key points of neonatal hearing screening, highlighting our experience in the solutions to common problems. We will discuss about techniques, protocols and neonatal or nutritional factors that can influence the screening results. To a summary of our work, an update on the subject is provided with the intention of sharing experiences and facilitating the start-up of the new units.

Keypoints to a Successful Newborn Hearing Screening. Thirty Years of Experience and Innovations

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.

The Eeffect of Swiss Ball Training on Core stability and Balance Functions in Students with Congenital deafness

Introduction: Based on past studies, it has been found that congenital deafness is weak in maintaining balance, strength, coordination, and endurance. So, the reinforcement of different aspects of physical fitness of these individuals should be considered in order to improve their quality of life. So, the purpose of present study was to assess the Effect of Swiss Ball Exercises on Trunk Endurance, and Balance Functions in Student with Congenital Deafness. Methods: The statistical population of the study consisted of students with congenital hearing loss in Qazvin, 24 of who were selected and were randomly divided into intervention and control groups. Functional tests were used to assess trunk endurance and balance. The intervention group performed the Swiss Ball training but control group continued their routine daily activities. Pre-test and post-test were performed by both groups before and after the training program. Independent ttest and covariance analysis were used to analyze the data. Result: According to the results of ANCOVA, there was a significant difference between the control and intervention groups in Trunk Endurance (p = 0.001), Static (p = 0.001) and Dynamic Balance (p = 0.001) tests after six weeks. Conclusion: Seems Swiss Ball training can provide a strong base for lower extremity movements by strengthening the core region of the body, thereby improving trunk endurance and balance functions in the deaf.

Identification of Novel Compound Heterozygous MYO15A Mutations in Two Chinese Families with Autosomal Recessive Nonsyndromic Hearing Loss

Congenital deafness is one of the most common causes of disability in humans, and more than half of cases are caused by genetic factors. Mutations of the MYO15A gene are the third most common cause of hereditary hearing loss. Using next-generation sequencing combined with auditory tests, two novel compound heterozygous variants c.2802_2812del/c.5681T>C and c.5681T>C/c.6340G>A in the MYO15A gene were identified in probands from two irrelevant Chinese families. Auditory phenotypes of the probands are consistent with the previously reported for recessive variants in the MYO15A gene. The two novel variants, c.2802_2812del and c.5681T>C, were identified as deleterious mutations by bioinformatics analysis. Our findings extend the MYO15A gene mutation spectrum and provide more information for rapid and precise molecular diagnosis of congenital deafness.

Risk Factors for Congenital Deafness in Pediatric Patients Who Underwent Otoaccoustic Emission (OAE) and Auditory Brainstem Response (ABR) Examinations in General Hospital Mohammad Hoesin Palembang, Indonesia

Introduction: Congenital deafness is a hearing loss that occurs at birth. Congenital deafness in neonates can be caused by risk factors during pregnancy and during the birth process. The tests carried out for hearing screening for neonates in hospital up to 1 month old are Otoaccoustic Emission (OAE) and Auditory Brainstem Response (ABR) examinations. Objective: Determining the relationship between family history of deafness, syndromes associated with sensorineural hearing loss, TORCH infection and prenatal syphilis, use of ototoxic drugs during pregnancy, prematurity, low birth weight, asphyxia, and hyperbilirubinemia with the incidence of congenital deafness in children Methods: This cross-sectional study was conducted based on medical record datas from children who underwent OAE and ABR examinations at Dr. Mohammad Hoesin Palembang hospital from January 2019 to February 2021. Results: From the 349 children, 180 (51.6%) had bilateral OAE and ABR pass results, 161 (46.1%) had bilateral referrals and 8 (2.3%) children received unilateral refer results. From 122 children with risk factors, 38 (31.1%) children with bilateral passes, 81 (66.4%) children with bilateral referrals and 3 (2.5 %) children with unilateral refer. From 227 children without risk factors, 142 (62.6 %) children with a bilateral pass, 80 (35.2 %) children with bilateral referrals and 5 (2.2%) children with unilateral refer. The most common risk factor was LBW of 41 (11.7%) children. Chi square test and logistic regression analysis results showed a significant relationship between ototoxic drugs during pregnancy and congenital deafness (p = 0.001) with referral results, the value of Odd Ratio (OR) 9.651. Conclusions: There is a significant relationship between risk factors for ototoxic drugs during pregnancy, TORCH and syphilis infection during pregnancy, asphyxia, congenital syndrome, LBWand hyperbilirubinemia with congenital deafness.