Hearing impairment and language delay in infants: Diagnostics and genetics

Lang‐Roth, Ruth

doi:10.3205/cto000108

Cited by 19 publications

(6 citation statements)

References 105 publications

(134 reference statements)

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“…The results suggested 92 of the 94 patients passed hearing screening tests, but they were tested positive for mutation screening. Patients experiencing mutations did not undergo hearing loss when they were young, but abnormal hearing might occur in their late life [ 13 ]. In addition, the 92 subjects with variants that passed the newborn hearing screening stated that 4.23% (92/2174) newborns would be benefited from genetic screening and possibly received better clinical intervention and management.…”

Section: Discussionmentioning

confidence: 99%

“…For another, our sample size is limited, especially the abnormal sample being screened. The heterozygous mutations found in this study may not immediately cause hearing changes in infants [ 13 ], but the infants with hearing abnormalities need further genetic examination so as to identify the cause. Therefore, additional molecular genetic studies should be planned for the patients.…”

Section: Discussionmentioning

confidence: 99%

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Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Guomei

Lu-yan

Dai

et al. 2022

Computational and Mathematical Methods in Medicine

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Guomei

Lu-yan

Dai

et al. 2022

Computational and Mathematical Methods in Medicine

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“…In case of subject 7, the eCAP measurement of the worse ear was interrupted by the subject, leading to incomplete data. These two subjects were also the only ones who had (mild) auditory dyslalia which is an indication of irregular speech development, possibly leading to a relatively large effect of cognitive processing on performance (Lang-Roth, 2014). Showing evidence for the relationship of IPGE slope and SRT ear-differences might have been The correlation between IPGE slope ASM and age for monaural data.…”

Section: Correlation Between Ipge Slope and Speech Intelligibility An...mentioning

confidence: 90%

Factors influencing the relationship between cochlear health measures and speech recognition in cochlear implant users

Zamaninezhad,

Mert,

Benav

et al. 2023

Front. Integr. Neurosci.

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BackgroundOne factor which influences the speech intelligibility of cochlear implant (CI) users is the number and the extent of the functionality of spiral ganglion neurons (SGNs), referred to as “cochlear health.” To explain the interindividual variability in speech perception of CI users, a clinically applicable estimate of cochlear health could be insightful. The change in the slope of the electrically evoked compound action potentials (eCAP), amplitude growth function (AGF) as a response to increased interphase gap (IPG) (IPGEslope) has been introduced as a potential measure of cochlear health. Although this measure has been widely used in research, its relationship to other parameters requires further investigation.MethodsThis study investigated the relationship between IPGEslope, demographics and speech intelligibility by (1) considering the relative importance of each frequency band to speech perception, and (2) investigating the effect of the stimulus polarity of the stimulating pulse. The eCAPs were measured in three different conditions: (1) Forward masking with anodic-leading (FMA) pulse, (2) Forward masking with cathodic-leading (FMC) pulse, and (3) with alternating polarity (AP). This allowed the investigation of the effect of polarity on the diagnosis of cochlear health. For an accurate investigation of the correlation between IPGEslope and speech intelligibility, a weighting function was applied to the measured IPGEslopes on each electrode in the array to consider the relative importance of each frequency band for speech perception. A weighted Pearson correlation analysis was also applied to compensate for the effect of missing data by giving higher weights to the ears with more successful IPGEslope measurements.ResultsA significant correlation was observed between IPGEslope and speech perception in both quiet and noise for between-subject data especially when the relative importance of frequency bands was considered. A strong and significant correlation was also observed between IPGEslope and age when stimulation was performed with cathodic-leading pulses but not for the anodic-leading pulse condition.ConclusionBased on the outcome of this study it can be concluded that IPGEslope has potential as a relevant clinical measure indicative of cochlear health and its relationship to speech intelligibility. The polarity of the stimulating pulse could influence the diagnostic potential of IPGEslope.

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“…This progress has been limited in LMICs, with evidence of positive outcomes where it has been successfully implemented (Erbasi et al 2018;Guralnick 1998;HPCSA 2007 Early hearing detection and intervention's documented positive effects include those on social and communicative functioning, achievement of developmental milestones, including motor, cognitive, speech, language and hearing development, as well as academic performance and consequent vocational outcomes (Graydon et al 2019;Guralnick 2005;Wroblewska-Seniuk et al 2017). There is extensive evidence that undetected hearing impairment has profound effects on the language abilities and skills of the infants, which may result in language delays of at least 2-4 years Lang-Roth 2014;Maluleke et al 2018. Consequently, long-term financial benefits are derived from EHDI for the hearing-impaired child, family and the State .…”

Section: Chaptermentioning

confidence: 99%

Tele-audiology within the African school context: Opportunities, challenges and proposed solutions

Govender¹

2022

Preventive Audiology: An African Perspective

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Peer review declarationThe publisher (AOSIS) endorses the South African 'National Scholarly Book Publishers Forum Best Practice for Peer Review of Scholarly Books'. The manuscript underwent an evaluation to compare the level of originality with other published works and was subjected to rigorous two-step peer review before publication, with the identities of the reviewers not revealed to the editor(s) or author(s). The reviewers were independent of the publisher, editor(s), and author(s). The publisher shared feedback on the similarity report and the reviewers' inputs with the manuscript's editor(s) or author(s) to improve the manuscript. Where the reviewers recommended revision and improvements, the editor(s) or author(s) responded adequately to such recommendations. The reviewers commented positively on the scholarly merits of the manuscript and recommended that the manuscript be published. v Research justificationPreventive health care, where preventive audiology is positioned, contains strategies adopted and implemented for disease and disorder prevention. Hearing function can be negatively impacted by numerous factors, including lifestyle choices, environmental factors, genetic predisposition, the burden of disease and other causes. Frequently, hearing impairment can be prevented and its consequences significantly minimised by preventive measures. Such prevention commands conscientiously deliberate anticipatory actions that can fall under primordial, primary, secondary or tertiary levels of prevention. South Africa, as a resource-constrained low-and middle-income country (LMIC), still has a challenge of high numbers of individuals with preventable hearing impairment from the cradle to the grave. Numerous strategies exist for the prevention of hearing impairment across all ages and in various contexts. Preventive Audiology: An African Perspective is an original scholarly book that introduces the concept of preventive audiology, with a specific focus on the African context, which is in line with the South African re-engineered primary health care strategy and the World Health Organization's approach. The book reflects on contextually relevant and responsive evidence-based perspectives, grounded in an African context on preventive audiology, in four major ear-and-hearing burdens of disease within the South African context, namely, (1) early hearing detection and intervention (EHDI), (2) middle ear pathologies, (3) ototoxicity and (4) noise-induced hearing loss (NIHL). The book represents innovative research, seen from both South African and global perspectives. It offers new discourse and argues for a paradigm shift in how audiology is theorised and performed, particularly in LMIC contexts. The goal of this book is to motivate for a paradigm shift in how ear-and-hearing health care is approached within this LMIC context, while also arguing for Afrocentric best practice evidence that leads to next practice. For Afrocentric epistemology, which is a different narrative that is deliberately removed from Western epi...

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Hearing impairment and language delay in infants: Diagnostics and genetics

Cited by 19 publications

References 105 publications

Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China

Factors influencing the relationship between cochlear health measures and speech recognition in cochlear implant users

Tele-audiology within the African school context: Opportunities, challenges and proposed solutions

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