scholarly journals Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana

Genes ◽  
2020 ◽  
Vol 11 (2) ◽  
pp. 132 ◽  
Author(s):  
Samuel M. Adadey ◽  
Edmond Tingang Wonkam ◽  
Elvis Twumasi Aboagye ◽  
Darius Quansah ◽  
Adwoa Asante-Poku ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Restriction Enzyme ◽  
Sanger Sequencing ◽  
Screening Program ◽  
Cost Effective ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Practical Case ◽  
Junction Protein ◽  
Genetic Medicine

In Ghana, gap-junction protein β 2 (GJB2) variants account for about 25.9% of familial hearing impairment (HI) cases. The GJB2-p.Arg143Trp (NM_004004.6:c.427C>T/OMIM: 121011.0009/rs80338948) variant remains the most frequent variant associated with congenital HI in Ghana, but has not yet been investigated in clinical practice. We therefore sought to design a rapid and cost-effective test to detect this variant. We sampled 20 hearing-impaired and 10 normal hearing family members from 8 families segregating autosomal recessive non syndromic HI. In addition, a total of 111 unrelated isolated individuals with HI were selected, as well as 50 normal hearing control participants. A restriction fragment length polymorphism (RFLP) test was designed, using the restriction enzyme NciI optimized and validated with Sanger sequencing, for rapid genotyping of the common GJB2-p.Arg143Trp variant. All hearing-impaired participants from 7/8 families were homozygous positive for the GJB2-p.Arg143Trp mutation using the NciI-RFLP test, which was confirmed with Sanger sequencing. The investigation of 111 individuals with isolated non-syndromic HI that were previously Sanger sequenced found that the sensitivity of the GJB2-p.Arg143Trp NciI-RFLP testing was 100%. All the 50 control subjects with normal hearing were found to be negative for the variant. Although the test is extremely valuable, it is not 100% specific because it cannot differentiate between other mutations at the recognition site of the restriction enzyme. The GJB2-p.Arg143Trp NciI-RFLP-based diagnostic test had a high sensitivity for genotyping the most common GJB2 pathogenic and founder variant (p.Arg143Trp) within the Ghanaian populations. We recommend the adoption and implementation of this test for hearing impairment genetic clinical investigations to complement the newborn hearing screening program in Ghana. The present study is a practical case scenario of enhancing genetic medicine in Africa.

Hearing Aid Amplification Reduces Communication Effort of People With Hearing Impairment and Their Conversation Partners

2020 ◽  
Vol 63 (4) ◽  
pp. 1299-1311 ◽  
Author(s):  
Timothy Beechey ◽  
Jörg M. Buchholz ◽  
Gitte Keidser
Keyword(s):  
Hearing Impairment ◽  
Hearing Aid ◽  
Normal Hearing ◽  
Referential Communication ◽  
Hearing Impaired ◽  
Directional Hearing ◽  
Acoustic Environment ◽  
Communication Task ◽  
Acoustic Environments ◽  
The Impact

Objectives This study investigates the hypothesis that hearing aid amplification reduces effort within conversation for both hearing aid wearers and their communication partners. Levels of effort, in the form of speech production modifications, required to maintain successful spoken communication in a range of acoustic environments are compared to earlier reported results measured in unaided conversation conditions. Design Fifteen young adult normal-hearing participants and 15 older adult hearing-impaired participants were tested in pairs. Each pair consisted of one young normal-hearing participant and one older hearing-impaired participant. Hearing-impaired participants received directional hearing aid amplification, according to their audiogram, via a master hearing aid with gain provided according to the NAL-NL2 fitting formula. Pairs of participants were required to take part in naturalistic conversations through the use of a referential communication task. Each pair took part in five conversations, each of 5-min duration. During each conversation, participants were exposed to one of five different realistic acoustic environments presented through highly open headphones. The ordering of acoustic environments across experimental blocks was pseudorandomized. Resulting recordings of conversational speech were analyzed to determine the magnitude of speech modifications, in terms of vocal level and spectrum, produced by normal-hearing talkers as a function of both acoustic environment and the degree of high-frequency average hearing impairment of their conversation partner. Results The magnitude of spectral modifications of speech produced by normal-hearing talkers during conversations with aided hearing-impaired interlocutors was smaller than the speech modifications observed during conversations between the same pairs of participants in the absence of hearing aid amplification. Conclusions The provision of hearing aid amplification reduces the effort required to maintain communication in adverse conditions. This reduction in effort provides benefit to hearing-impaired individuals and also to the conversation partners of hearing-impaired individuals. By considering the impact of amplification on both sides of dyadic conversations, this approach contributes to an increased understanding of the likely impact of hearing impairment on everyday communication.

scholarly journals Use of nouns and verbs in the oral narrative of individuals with hearing impairment and normal hearing between 5 and 11 years of age

2013 ◽  
Vol 131 (5) ◽  
pp. 289-295 ◽  
Author(s):  
Erica Endo Amemiya ◽  
Barbara Niegia Garcia Goulart ◽  
Brasilia Maria Chiari
Keyword(s):  
Hearing Impairment ◽  
Oral Language ◽  
Speech Therapy ◽  
Oral Communication ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Oral Narrative ◽  
School Type ◽  
Cross Sectional ◽  
Significant Difference

CONTEXT AND OBJECTIVE: Nouns and verbs indicate actions in oral communication. However, hearing impairment can compromise the acquisition of oral language to such an extent that appropriate use of these can be challenging. The objective of this study was to compare the use of nouns and verbs in the oral narrative of hearing-impaired and hearing children. DESIGN AND SETTING: Analytical cross-sectional study at the Department of Speech-Language and Hearing Sciences, Universidade Federal de São Paulo. METHODS: Twenty-one children with moderate to profound bilateral neurosensory hearing impairment and twenty-one with normal hearing (controls) were matched according to sex, school year and school type. A board showing pictures was presented to each child, to elicit a narrative and measure their performance in producing nouns and verbs. RESULTS: Twenty-two (52.4%) of the subjects were males. The mean age was 8 years (standard deviation, SD = 1.5). Comparing averages between the groups of boys and girls, we did not find any significant difference in their use of nouns, but among verbs, there was a significant difference regarding use of the imperative (P = 0.041): more frequent among boys (mean = 2.91). There was no significant difference in the use of nouns and verbs between deaf children and hearers, in relation to school type. Regarding use of the indicative, there was a nearly significant trend (P = 0.058). CONCLUSION: Among oralized hearing-impaired children who underwent speech therapy, their performance regarding verbs and noun use was similar to that of their hearing counterparts.

Effect of Age on Prediction of Hearing Loss with the Bivariate-Plotting Procedure

1984 ◽  
Vol 27 (1) ◽  
pp. 12-19 ◽  
Author(s):  
Shlomo Silman ◽  
Carol Ann Silverman ◽  
Theresa Showers ◽  
Stanley A. Gelfand
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Predictive Accuracy ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Sensorineural Hearing ◽  
Line Segments ◽  
Bivariate Plot ◽  
Accuracy Of Prediction ◽  
Effect Of Age

The effect of age on accuracy of prediction of hearing impairment with the bivariate-plotting procedure was investigated in 72 normal-hearing subjects aged 20–69 years and in 86 sensorineural hearing-impaired subjects aged 20–83 years. The predictive accuracy with the bivariate-plotting procedure improved markedly when the data from subjects over 44 years of age were excluded from the bivariate plot. The predictive accuracy improved further when the construction of the line segments in the traditional bivariate plot was modified.

SELF-ESTEEM AND HEARING IMPAIRMENT: AN INVESTIGATION OF HONG KONG SECONDARY SCHOOL STUDENTS

1997 ◽  
Vol 25 (4) ◽  
pp. 367-374 ◽  
Author(s):  
Fung Wing Yee ◽  
David Watkins ◽  
Nick Crawford
Keyword(s):  
Hong Kong ◽  
Secondary School ◽  
Hearing Impairment ◽  
Secondary School Students ◽  
Self Esteem ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
The Self ◽  
School Students ◽  
Impaired Group

A comparison was made of the self-esteem of 45 moderately-severe hearing impaired and 300 normal-hearing secondary school students in Hong Kong. Analysis indicated that the hearing impaired group, particularly the males, tended to report higher self-esteem in a number of dimensions of the self. The results provide no evidence that integration into the normal classroom has damaged the self-esteem of the hearing-impaired.

Visual Biasing of Normal and Impaired Auditory Speech Perception

1990 ◽  
Vol 33 (1) ◽  
pp. 163-173 ◽  
Author(s):  
Brian E. Walden ◽  
Allen A. Montgomery ◽  
Robert A. Prosek ◽  
David B. Hawkins
Keyword(s):  
Speech Perception ◽  
Hearing Impairment ◽  
Visual Cues ◽  
Sensory Modality ◽  
Stop Consonant ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Auditory Speech

Intersensory biasing occurs when cues in one sensory modality influence the perception of discrepant cues in another modality. Visual biasing of auditory stop consonant perception was examined in two related experiments in an attempt to clarify the role of hearing impairment on susceptibility to visual biasing of auditory speech perception. Fourteen computer-generated acoustic approximations of consonant-vowel syllables forming a /ba-da-ga/ continuum were presented for labeling as one of the three exemplars, via audition alone and in synchrony with natural visual articulations of /ba/ and of /ga/. Labeling functions were generated for each test condition showing the percentage of /ba/, /da/, and /ga/ responses to each of the 14 synthetic syllables. The subjects of the first experiment were 15 normal-hearing and 15 hearing-impaired observers. The hearing-impaired subjects demonstrated a greater susceptibility to biasing from visual cues than did the normal-hearing subjects. In the second experiment, the auditory stimuli were presented in a low-level background noise to 15 normal-hearing observers. A comparison of their labeling responses with those from the first experiment suggested that hearing-impaired persons may develop a propensity to rely on visual cues as a result of long-term hearing impairment. The results are discussed in terms of theories of intersensory bias.

Frequency-Discrimination Ability of Hearing-Impaired Listeners

1981 ◽  
Vol 24 (1) ◽  
pp. 108-112 ◽  
Author(s):  
P. M. Zurek ◽  
C. Formby
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Frequency Modulation ◽  
Hearing Threshold ◽  
Low Frequency ◽  
Frequency Discrimination ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Discrimination Ability ◽  
Hearing Sensitivity

Thresholds for frequency modulation were measured by an adaptive, two-alternative, forced-choice method with ten listeners: eight who showed varying degrees of sensorineural hearing impairment, and two with normal-hearing sensitivity. Results for test frequencies spaced at octave intervals between 125 and 4000 Hz showed that, relative to normal-hearing listeners, the ability of the hearing-impaired listeners to detect a sinusoidal frequency modulation: (1) is diminished above a certain level of hearing loss; and (2) is more disrupted for low-frequency tones than for high-frequency tones, given the same degree of hearing loss at the test frequency. The first finding is consistent with that of previous studies which show a general deterioration of frequency-discrimination ability associated with moderate, or worse, hearing loss. It is proposed that the second finding may be explained: 1) by differential impairment of the temporal and place mechanisms presumed to, encode pitch at the lower and higher frequencies, respectively; and/or, 2) for certain configurations of hearing loss, by the asymmetrical pattern of cochlear excitation that may lead to the underestimation, from measurements of threshold sensitivity, of hearing impairment for low-frequency tones and consequently to relatively large changes in frequency discrimination for small shifts in hearing threshold.

scholarly journals Effects of Signal Level and Spectral Contrast on Vowel Formant Discrimination for Normal-Hearing and Hearing-Impaired Listeners

2013 ◽  
Vol 22 (1) ◽  
pp. 94-104 ◽  
Author(s):  
Ashley Woodall ◽  
Chang Liu
Keyword(s):  
Hearing Impairment ◽  
American English ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Spectral Contrast ◽  
Vowel Formant ◽  
English Vowels ◽  
Spectral Enhancement ◽  
The Individual

Purpose The aim of this study was to determine whether increasing the overall speech level or the individual spectral contrasts of vowel sounds can improve vowel formant discrimination for listeners both with and without normal hearing. Method Thresholds of vowel formant discrimination were examined for the F2 frequencies of 3 American English vowels for listeners with and without normal hearing. Spectral contrasts of the F2 were enhanced by 3, 6, and 9 dB. Vowel stimuli were presented at 70 and 90 dB SPL. Results The thresholds of listeners with hearing impairment were reduced significantly after spectral enhancement was implemented, especially at 90 dB SPL, whereas normal-hearing listeners did not benefit from spectral enhancement. Conclusion These results indicate that a combination of spectral enhancement of F2 and high speech level is most beneficial to improve vowel formant discrimination for listeners with hearing impairment.

scholarly journals Hearing impairment is associated with enhanced neural tracking of the speech envelope

2018 ◽  
Author(s):  
Lien Decruy ◽  
Jonas Vanthornhout ◽  
Tom Francart
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Normal Hearing ◽  
Hearing Impaired ◽  
Sensorineural Hearing ◽  
List Type ◽  
Speech Understanding ◽  
Envelope Tracking ◽  
Additional Increase

AbstractElevated hearing thresholds in hearing impaired adults are usually compensated by providing amplification through a hearing aid. In spite of restoring hearing sensitivity, difficulties with understanding speech in noisy environments often remain. One main reason is that sensorineural hearing loss not only causes loss of audibility but also other deficits, including peripheral distortion but also central temporal processing deficits. To investigate the neural consequences of hearing impairment in the brain underlying speech-in-noise difficulties, we compared EEG responses to natural speech of 14 hearing impaired adults with those of 14 age-matched normal-hearing adults. We measured neural envelope tracking to sentences and a story masked by different levels of a stationary noise or competing talker. Despite their sensorineural hearing loss, hearing impaired adults showed higher neural envelope tracking of the target than the competing talker, similar to their normal-hearing peers. Furthermore, hearing impairment was related to an additional increase in neural envelope tracking of the target talker, suggesting that hearing impaired adults may have an enhanced sensitivity to envelope modulations or require a larger differential tracking of target versus competing talker to neurally segregate speech from noise. Lastly, both normal-hearing and hearing impaired participants showed an increase in neural envelope tracking with increasing speech understanding. Hence, our results open avenues towards new clinical applications, such as neuro-steered prostheses as well as objective and automatic measurements of speech understanding performance.HighlightsAdults with hearing impairment can neurally segregate speech from background noiseHearing loss is related to enhanced neural envelope tracking of the target talkerNeural envelope tracking has potential to objectively measure speech understanding

Hearing Impairment Increases Communication Effort During Conversations in Noise

2020 ◽  
Vol 63 (1) ◽  
pp. 305-320 ◽  
Author(s):  
Timothy Beechey ◽  
Jörg M. Buchholz ◽  
Gitte Keidser
Keyword(s):  
Hearing Impairment ◽  
Feedback System ◽  
Normal Hearing ◽  
Referential Communication ◽  
Hearing Impaired ◽  
Dynamic Feedback ◽  
Acoustic Environment ◽  
Communication Task ◽  
Acoustic Environments ◽  
Conversation Partner

Purpose This article describes patterns of speech modifications produced by talkers as a function of the degree of hearing impairment of communication partners during naturalistic conversations in noise. An explanation of observed speech modifications is proposed in terms of a generalization of the concept of effort. This account complements existing theories of listening effort by extending the concept of effort to the domain of interactive communication. Method Twenty young adult normal hearing participants and 20 older adult hearing-impaired participants were tested in pairs. Each pair consisted of 1 young normal hearing participant and 1 older hearing-impaired participant. Pairs of participants took part in naturalistic conversations through the use of a referential communication task. Each pair completed a 5-min conversation in each of 5 different realistic acoustic environments. Results Talkers modified their speech, in terms of level and spectrum, in a gradient manner reflecting both the acoustic environment and the degree of hearing impairment of their conversation partner. All pairs of participants were able to maintain communication across all acoustic environments regardless of degree of hearing impairment and the level of environmental noise. Contrasting effects of noise and hearing impairment on speech production revealed distinct patterns of speech modifications produced by normal hearing and hearing-impaired talkers during conversation. This may reflect the fact that only the speech modifications produced by normal hearing talkers functioned to compensate for the hearing impairment of a conversation partner. Conclusions The data presented support the concept of communication effort as a dynamic feedback system between conversation participants. Additionally, these results provide insight into the nature of realistic speech signals, which are encountered by people with hearing impairment in everyday communication scenarios.

Universal Screening for Infant Hearing Impairment: Not Simple, Not Risk-Free, Not Necessarily Beneficial, and Not Presently Justified

PEDIATRICS ◽  
1994 ◽  
Vol 93 (2) ◽  
pp. 330-334 ◽  
Author(s):  
Fred H. Bess ◽  
Jack L. Paradise
Keyword(s):  
Hearing Impairment ◽  
Early Identification ◽  
Universal Screening ◽  
Screening Program ◽  
Cost Effective ◽  
Screening Methods ◽  
Controlled Trials ◽  
Validity And Reliability ◽  
Young Infants ◽  
Cost Effective Approach

In our judgment, before any societal decision is made as to whether to institute a universal screening program for hearing impairment in young infants, many questions for which answers are not now available must be answered. To answer those questions will require extensive research. Clearly, the authors of the Consensus Statement were not unmindful of the scope of the problem, for they included in the Statement a listing of proposed future studies they considened important. Among these were: "controlled trials of screening by audiologists versus trained non-professionals on volunteers; controlled trials of the influence of different settings...on the effectiveness of screening procedures; comparison of early intervention with later intervention...; evaluate the validity and reliability of screening instruments...; test the feasibility of screening methods...in infant populations...in remote satellite clinics...; determine whether a two-tier screening system...wonks better than [a single scneen]...study the cost-effectiveness of universal screening for infant hearing impairment." We heartily agree that these studies, and other studies, are important—indeed, crucial. So crucial, in fact, that, until they have been conducted and their results tabulated, no rational decision on undertaking universal screening for infant hearing loss is possible. We, too, believe that early identification is important; however, the precipitate launching of mass screening could work to deter the eventual development of an effective early identification program. In the meantime, to identify infants at risk for hearing impairment, continued reliance on the high-risk register as recommended by the Joint Committee on Infant Hearing,4 but in combination with an automated rather than conventional ABR screen, seems to be a more practical, cost-effective approach.

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