scholarly journals Clinicians’ Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss

2021 ◽  
Vol 11 (1) ◽  
pp. 35
Author(s):  
Lauren Notini ◽  
Clara L. Gaff ◽  
Julian Savulescu ◽  
Danya F. Vears
Keyword(s):  
Hearing Loss ◽  
Content Analysis ◽  
Clinical Study ◽  
Exome Sequencing ◽  
Clinical Care ◽  
Optimal Time ◽  
Newborn Hearing Screening ◽  
Screening Programs ◽  
Routine Clinical Care ◽  
Newborn Hearing

Exome sequencing (ES) is an effective method for identifying the genetic cause of hearing loss in infants diagnosed through newborn hearing screening programs. ES has the potential to be integrated into routine clinical care, yet little is known about the experiences of clinicians offering this test to families. To address this gap, clinicians involved in a clinical study using ES to identify the cause of infants’ hearing loss were interviewed to explore their experiences with offering and returning results to parents. Interview transcripts were analysed using inductive content analysis. Twelve clinicians participated: seven genetic counsellors, four clinical geneticists, and one paediatrician. Most clinicians were supportive of offering ES to infants with hearing loss, primarily because results may inform the child’s clinical management. However, some expressed concerns, questioning the utility of this information, particularly for isolated hearing loss. Clinicians had differing views regarding the optimal time to offer ES to families; while some felt that families can manage everything at once, others recommended delaying testing until parents have come to terms with their child’s diagnosis. These findings show the complexity involved in determining how ES should be offered to families following the diagnosis of a child with hearing loss, particularly with regards to when testing is suggested.

Evaluation of the effectiveness of newborn hearing screening program in Zahedan: A cross-sectional study

2021 ◽  
Vol 15 (6) ◽  
pp. 2067-2071
Author(s):  
Gholam-Ali Dashti Khavidaki ◽  
Reza Gharibi
Keyword(s):  
Hearing Loss ◽  
Early Diagnosis ◽  
Screening Program ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Cross Sectional ◽  
Screening Programs ◽  
Second Stage ◽  
Maternity Hospitals ◽  
Newborn Hearing

Introduction: Hearing loss is one of the most common congenital disorders. The prevalence of this disorder in different communities has been reported between 3.5 to 9 percent, which can have adverse effects on language learning, communication, and education of children. Also, early diagnosis of this disorder in newborns is not possible without the use of hearing screening. Therefore, the aim of this study was to evaluate the effectiveness of newborn hearing screening programs in Zahedan. Method: In this cross-sectional observational study, all babies born in the maternity hospitals of Zahedan city (maternity hospitals of Nabi Akram, Imam Ali, and Social Security hospitals) in 2020, were examined. In order to conduct the study, TEOAE was initially performed for all neonates. Then, based on the results obtained in the ODA test and in case of unsatisfactory response, cases were referred for re-evaluation. Infants who were rejected again in the second stage were immediately subjected to the AABR test and if they failed in this test, they were also subjected to a diagnostic ABR test. Results: Based on our results, 7700 infants were first evaluated with the OAE test. Of these, 580 (8%) had no OAE response. Out of 580 infants rejected in the first stage, 76 infants were also rejected in the second stage; Among them, 8 infants were re-diagnosed with hearing impairments. Finally, out of 3 infants who were diagnosed with hearing loss, 1 (33%) had conductive hearing loss and 2 (67%) had sensorineural hearing loss. Conclusion: Based on the findings of the present study, the implementation of a comprehensive neonatal hearing screening program is necessary for the timely and early diagnosis and treatment of hearing loss. Also, screening can improve the health of children and their personal, social, and educational development in the future. Keywords: Hearing screening, hearing loss, newborns, OAE, AABR

Cost and Cost-effectiveness of Universal Screening for Hearing Loss in Newborns

2001 ◽  
Vol 124 (4) ◽  
pp. 359-367 ◽  
Author(s):  
Eric J. Kezirian ◽  
Karl R. White ◽  
Bevan Yueh ◽  
Sean D. Sullivan
Keyword(s):  
Hearing Loss ◽  
Cost Effectiveness ◽  
Otoacoustic Emissions ◽  
Universal Screening ◽  
Newborn Hearing Screening ◽  
Cost Effectiveness Ratio ◽  
Screening Programs ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing

OBJECTIVE: To estimate the cost and cost-effectiveness of universal newborn hearing screening. STUDY DESIGN AND SETTING: Decision analysis model utilizing the hospital perspective. This model evaluated 4 distinct protocols for screening a fixed and defined hypothetical cohort of newborn infants. OUTCOME MEASURES: Cost of screening and the number of infants with hearing loss identified through universal screening. RESULTS: Otoacoustic emissions testing at birth followed by repeat testing at follow up demonstrated the lowest cost ($13 per infant) and had the lowest cost-effectiveness ratio ($5100 per infant with hearing loss identified). Screening auditory brainstem evoked response testing at birth with no screening test at follow-up was the only protocol with greater effectiveness, but it also demonstrated the highest cost ($25 per infant) and highest cost-effectiveness ratio ($9500 per infant with hearing loss identified). These findings were robust to sensitivity analysis, including best-case and worst-case estimation. The prevalence of hearing loss and the fraction of infants returned for follow-up testing had a large impact on the absolute level, but not relative level of protocol cost and cost-effectiveness. CONCLUSION: The otoacoustic emissions testing protocol should be selected by screening programs concerned with cost and cost-effectiveness, although there are certain caveats to consider. SIGNIFICANCE: The most significant barriers to implementation of universal newborn hearing screening programs have been financial, and this study compares the most common protocols currently in use. This study can assist program directors not only in the decision to initiate universal screening but also in their choice of screening protocol.

scholarly journals Mothers’ perspectives of newborn hearing screening programme

2018 ◽  
Vol 52 (3) ◽  
pp. 158-162
Author(s):  
Mercy E. Jatto ◽  
Segun A. Ogunkeyede ◽  
Adebolajo A. Adeyemo ◽  
Kazeem Adeagbo ◽  
Orinami Saiki
Keyword(s):  
Hearing Loss ◽  
Mode Of Delivery ◽  
Birth Asphyxia ◽  
Hearing Screening ◽  
Willingness To Accept ◽  
Newborn Hearing Screening ◽  
Sources Of Information ◽  
Screening Programs ◽  
Newborn Hearing ◽  
Newborn Children

Background: Newborn hearing screening programs identifies newborns with hearing loss. The early identification enables prompt intervention through hearing rehabilitation. Accurate knowledge of the program and its benefit will impact on the uptake of the program by the citizenry. We hypothesized that there is a gap in the knowledge of parents on hearing screening and rehabilitation measures in Nigeria.Aim: To determine the knowledge and perceptions of mothers of newborn children on hearing screening.Methods: A cross sectional observational study among mothers of newborn children at immunization clinics. Semi structured questionnaire on gestational duration, mode of delivery, birth asphyxia, knowledge on hearing loss and newborn hearing screening were administered.Results: Participants were 48 mothers with age range from 18 to 42 years. Awareness of newborn hearing screening was poor among the mothers; sources of information on newborn hearing screening were antenatal clinic, mass media and friends. The educational level of the participants had no association with awareness (p = 0.11), but the willingness to accept newborn hearing screening, was associated with socioeconomic status (p = 0.04) and the level of education (p = 0.02). The participants were not aware of factors responsible for hearing loss in childhood.Conclusion: There is inadequate knowledge about newborn hearing screening and risk factors for infant hearing loss among the mothers, though they demonstrate willingness to accept the newborn hearing screening. Funding: None declaredKeywords: Hearing loss, hearing screening, immunization, mother, newborn

scholarly journals Referral and Lost to System Rates of Two Newborn Hearing Screening Programs in Saudi Arabia

2020 ◽  
Vol 6 (3) ◽  
pp. 50
Author(s):  
Ahmad A. Alanazi
Keyword(s):  
Hearing Loss ◽  
Saudi Arabia ◽  
Otoacoustic Emissions ◽  
Auditory Brainstem ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Two Stage ◽  
Screening Programs ◽  
Newborn Hearing ◽  
Brainstem Response

Congenital hearing loss has been commonly reported as a significant health problem. Lost to system (LTS) is a major challenge facing newborn hearing screening (NHS) programs. This retrospective cross-sectional descriptive study aimed to determine the referral and LTS rates after the two-stage NHS based on transient evoked otoacoustic emissions (TEOAEs) in two main hospitals in Riyadh, Saudi Arabia (SA). NHS was performed on newborns before hospital discharge. Newborns were only rescreened if NHS initially revealed a fail/refer outcome in one or both ears. Those who failed the first and second screenings or had risk factors were referred for auditory brainstem response (ABR) testing to confirm or exclude hearing loss. In total, 20,171 newborns (40,342 ears; 52% males; 48% females) were screened, of whom 19,498 (96.66%) passed the initial screening, while 673 (3.34%) failed. Of the 673 newborns, 235 (34.92%) were LTS, and 438 (65.08%) were rescreened, of whom 269 (61.42%) failed and were referred for a comprehensive audiological assessment to confirm the existence of hearing loss. The referral rate after the initial two-stage screening was equal to 1.33%. The lack of awareness of the importance of NHS among parents seems to be the major cause behind the LTS rate. The stakeholders have to work efficiently to reduce the LTS rate.

Practicality, Validity, and Cost-Efficiency of Universal Newborn Hearing Screening Using Transient Evoked Otoacoustic Emissions

1995 ◽  
Vol 17 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Karl R. White ◽  
Thomas R. Behrens ◽  
Bonnie Strickland
Keyword(s):  
Hearing Loss ◽  
Otoacoustic Emissions ◽  
Screening Program ◽  
The United States ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Transient Evoked Otoacoustic Emissions ◽  
Screening Programs ◽  
Universal Newborn Hearing Screening ◽  
Newborn Hearing

Although the importance of identifying significant hearing loss at an early age has long been recognized, it is generally acknowledged that newborn hearing screening programs in the United States have not been very successful. The problem has been that available techniques were impractical, too expensive, or invalid. This article summarizes the data regarding the use of transient evoked otoacoustic emissions (TEOAE) in a universal newborn hearing screening program and describes various facets of program implementation. It is concluded that available data provide clear evidence that TEOAE can be used to significantly reduce the average age of identification for hearing loss in the U.S.

Newborn Hearing Screening Speeds Diagnosis and Access to Intervention by 20–25 Months

2009 ◽  
Vol 20 (01) ◽  
pp. 049-057 ◽  
Author(s):  
Yvonne S. Sininger ◽  
Amy Martinez ◽  
Laurie Eisenberg ◽  
Elizabeth Christensen ◽  
Alison Grimes ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Intervention ◽  
Hearing Aids ◽  
Hearing Screening ◽  
Age At Diagnosis ◽  
Newborn Hearing Screening ◽  
Direct Evaluation ◽  
Screening Programs ◽  
Newborn Hearing ◽  
Children With Hearing Loss

Background: Newborn Hearing Screening (NHS) programs aim to reduce the age of identification and intervention of infants with hearing loss. It is generally accepted that NHS programs achieve that outcome, but few studies have compared children who were screened to those not screened in the same study and during the same time period. This study takes advantage of the emerging screening programs in California to compare children based on screening status on age at intervention milestones. Purpose: The purpose of this study was to compare the outcomes of cohorts of children with hearing loss, some screened for hearing loss at birth and others not screened. Specifically, the measures compared are the benchmarks suggested by the Joint Committee on Infant hearing for determining the quality of screening programs. Study Sample: Records from 64 children with bilateral permanent hearing loss who were enrolled in a study of communication outcomes served as data for this study. Of these children, 47 were screened with 39 failing and 8 passing, and 17 were not screened. Intervention: This study was observational and involved no planned intervention. Data Collection and Analysis: Outcome benchmarks included age at diagnosis of hearing loss, age at fitting of amplification, and age at enrollment in early intervention. Delays between diagnosis and fitting or enrollment were also calculated. Hearing screening status of the children included screened with fail outcome, screened with pass outcome, and not screened. Analysis included simple descriptive statistics, and t-tests were used to compare outcomes by groups: screened/not screened, screened pass/screened failed, and passed/not screened. Results: Children with hearing loss who had been screened as newborns were diagnosed with hearing loss 24.62 months earlier, fitted with hearing aids 23.51 months earlier, and enrolled in early intervention 19.98 months earlier than those infants who were not screened. Screening status did not influence delays in fitting of amplification or enrollment in intervention following diagnosis. Eight of the infants with hearing loss (12.5%) passed the NHS, and the ages at benchmarks of those children were slightly but not significantly earlier than infants who had not been screened. Conclusions: The age at achievement of benchmarks such as diagnosis, fitting of amplification, and enrollment in early intervention in children who were screened for hearing loss is on target with stated goals provided by the Academy of Pediatrics and the Joint Committee on Infant Hearing. In addition, children who are not screened for hearing loss continue to show dramatic delays in achievement of benchmarks by as much as 24 months. Evaluating achievement of benchmarks during the start-up period of NHS programs allowed a direct evaluation of ability of these screening programs to meet stated goals. This demonstrates, unequivocally, that the NHS process itself is responsible for improvements in age at diagnosis, hearing aid fitting, and enrollment in intervention.

Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen

2021 ◽  
pp. 1-9
Author(s):  
Philippa Horn ◽  
Carlie Driscoll ◽  
Jane Fitzgibbons ◽  
Rachael Beswick
Keyword(s):  
Hearing Loss ◽  
Trisomy 21 ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Craniofacial Abnormalities ◽  
Universal Newborn Hearing Screening ◽  
Increased Risk ◽  
Newborn Hearing ◽  
Pierre Robin ◽  
Early Diagnostic

Purpose The current Joint Committee on Infant Hearing guidelines recommend that infants with syndromes or craniofacial abnormalities (CFAs) who pass the universal newborn hearing screening (UNHS) undergo audiological assessment by 9 months of age. However, emerging research suggests that children with these risk factors are at increased risk of early hearing loss despite passing UNHS. To establish whether earlier diagnostic audiological assessment is warranted for all infants with a syndrome or CFA, regardless of screening outcome, this study compared audiological outcomes of those who passed UNHS and those who referred. Method A retrospective analysis was performed on infants with a syndrome or CFA born between July 1, 2012, and June 30, 2017 who participated in Queensland, Australia's state-wide UNHS program. Results Permanent childhood hearing loss (PCHL) yield was higher among infants who referred on newborn hearing screening (51.20%) than in those who passed. Nonetheless, 27.47% of infants who passed were subsequently diagnosed with hearing loss (4.45% PCHL, 23.02% transient conductive), but PCHL was generally milder in this cohort. After microtia/atresia, the most common PCHL etiologies were Trisomy 21, other syndromes, and cleft palate. Of the other syndromes, Pierre Robin sequence featured prominently among infants who passed the hearing screen and were subsequently diagnosed with PCHL, whereas there was a broader mix of other syndromes that caused PCHL in infants who referred on screening. Conclusion Children identified with a syndrome or CFA benefit from early diagnostic audiological assessment, regardless of their newborn hearing screening outcome.

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