Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the highest prevalence (2.12%), approximately accounting for 48.9% of the total carrier frequency. The carrier frequency of SLC26A4 c.919-2A>G was 0.87%, while the most common variant in mitochondrial DNA (mtDNA) MT-RNR1 gene was m.1555A>G, and its carrier frequency was 0.184%. In the OAE testing, 92 newborns passing hearing screening were tested positively for variants in 4 genes, and 2 of 42 newborns who failed in the first hearing test were found to mutate in 4 genes. Conclusion. Herein, the results concerning the carrier rates for deafness gene mutations of Ningbo population are reported. Our study is beneficial to the insight into the deafness genomic epidemiology for deafness genes in Ningbo population and provides the reference for healthcare in Ningbo.

Newborn Hearing Screening Benefits Children, but Global Disparities Persist

There is substantial evidence that newborn hearing screening (NHS) reduces the negative sequelae of permanent childhood hearing loss (PCHL) if performed in programs that aim to screen all newborns in a region or nation (often referred to as Universal Newborn Hearing Screening or UNHS). The World Health Organization (WHO) has called in two resolutions for the implementation of such programs and for the collection of large-scale data. To assess the global status of NHS programs we surveyed individuals potentially involved with newborn and infant hearing screening (NIHS) in 196 countries/territories (in the following text referred to as countries). Replies were returned from 158 countries. The results indicated that 38% of the world’s newborns and infants had no or minimal hearing screening and 33% screened at least 85% of the babies (hereafter referred to as UNHS). Hearing screening programs varied considerably in quality, data acquisition, and accessibility of services for children with PCHL. In this article, we summarize the main results of the survey in the context of several recent WHO publications, particularly the World Report on Hearing, which defined advances in the implementation of NHS programs in the Member States as one of three key indicators of worldwide progress in ear and hearing care (EHC).

Online Simulation Education for Audiometry Training

Purpose: The purpose of this clinical focus article was to describe a new online simulation program for pure-tone audiometry. Method: Fictional but realistic patient profiles and testing environments were created to teach students about hearing screening protocols and pure-tone audiology. The diversity of the demographics of the United States is represented throughout the program. The web app was created using HTML/JS/CSS with a Flask server backend and MySQL database. Results: The program allows students to learn the process of conducting a hearing screening and measuring audiometric thresholds using a web-based virtual clinical audiometer. The virtual audiometer includes standard audiometer features and allows for instruction based on standard guidelines. The diversity of the patients within the simulation program allows for discussions of diversity to be woven throughout the curriculum. Conclusions: The new simulation program is designed for use as a clinical training tool enabling undergraduate and graduate students to actively participate in hearing screening testing and pure-tone audiometry using any web browser. The program is also designed with the intent to improve pedagogical outcomes at the undergraduate and graduate level for communication sciences and disorders education for pure-tone audiometry by providing instructors with content that focuses on the diversity that is represented in the demographics of the United States.

Application of otoacoustic emissions and brainstem evoked response audiometry in newborn hearing screening

<p class="abstract"><strong>Background: </strong>Newborn hearing screening was conducted in a tertiary care hospital in a step by step manner using otoacoustic emissions (OAE) and brainstem evoked response audiometry (BERA) and details were recorded.</p><p class="abstract"><strong>Methods:</strong> A prospective institutional based study was conducted. All the newborns born in the hospital over a period of 18 months from December 2018 to May 2020 were considered in the study. Healthy newborns were screened bedside within 24 hours of delivery and NICU (Neonatal Intensive Care Unit) babies were screened in the NICU. Handheld OAE apparatus was used as the initial screening tool. A total of 3 OAEs were done for babies with a “refer” result in the OAEs, which were done 1 month apart. Babies with a “refer” in the third OAE were subjected for BERA.</p><p class="abstract"><strong>Results:</strong> A total of 14226 babies were screened at 24-48 hours of birth. Among them, 13,069 babies passed the first OAE screening in both ears. Remaining babies were referred for further follow-up. After subsequent follow-ups and successive testing, 11 babies were found to have hearing loss, which was diagnosed within 4-5 months of the child’s birth.</p><p class="abstract"><strong>Conclusions: </strong>Universal newborn hearing screening is the need of the day. OAE is an effective screening tool for newborn hearing loss. When complemented by BERA, majority of congenitally deaf babies can be diagnosed at a very early age. This helps in early intervention.</p>

Does gestational diabetes mellitus affect the hearing of the baby?

<p><strong>Background: </strong>Hearing screening results of babies born to mothers with and without gestational diabetes mellitus done within 24-48 hours of delivery using otoacoustic emissions was compared. Babies who failed the screening were recalled for further testing.<strong></strong></p><p><strong>Methods: </strong>A prospective institutional based study was conducted between December 2018 and May 2020. All the babies were screened for hearing impairment using handheld OAE apparatus within 24-48 hours of delivery. History of gestational diabetes mellitus in the mother was enquired. Any baby with a “refer” result in the OAE study was recalled for a repeat OAE testing after a month. This was repeated two more times if the baby failed the test every time. In case of failing the test for the third time, the baby was sent for brainstem evoked response audiometry for confirmation of hearing loss.<strong></strong></p><p><strong>Results: </strong>Screening was done for 14226 babies. Among them, 44 babies were born to mothers with gestational diabetes mellitus. The hearing screening results did not show a significant association between gestational diabetes mellitus and hearing impairment in the baby.<strong></strong></p><p><strong>Conclusions: </strong>Gestational diabetes is considered as one of the risk factors for deafness in the baby. This study could not establish such a relationship.<strong></strong></p>