scholarly journals Concurrent genetic and standard screening test for hearing reduction

2020 ◽  
Vol 66 (2) ◽  
pp. 35-40
Author(s):  
Marina Davcheva Chakar ◽  
Gjorgji Bozhinovski ◽  
Emilija Shukarova Stefanovska ◽  
Dejan Trajkov
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Genetic Screening ◽  
Screening Test ◽  
Screening Program ◽  
Deaf Child ◽  
Hearing Screening ◽  
Pathogenic Variant ◽  
Gjb2 Gene ◽  
Brainstem Response

Reduction of hearing is the most common sensory impairment among newborns with an incidence of 1-3 per 1000 births. Introduction of an Auditory Newborn screening program allows early identification of hearing impairment. Mainly, congenital hearing loss in early childhood is a result of genetic changes. Due to high frequency of GJB2 pathogenic variants, its molecular characterization among sensorineural hearing reduction cases is already conducted as a routine analysis in many countries. The aim of this study is to show our initial results in the effort to determine whether genetic screening along with the standard hearing screening in newborns is justified. Otoacoustic emission (OAE) method was conducted in 223 newborns at risk of hearing impairment. Among them, 7 did not pass the test in both ears while 9 exhibited one-sided hearing loss. In all 7 children with indication of profound bilateral deafness, the diagnosis was confirmed using auditory brainstem response. Genetic screening of GJB2 gene was performed in 6 of them. Genetic analysis of GJB2 revealed homozygous state of the most common pathogenic variant 35delG in 3 (50%) of the analyzed infants. In the remaining 3 no pathogenic variant was determined. The results indicate that performing auditory OAE together with genetic screening is justified. In newborns who have not passed the hearing screening test and have profound hearing loss, without other syndrome traits, screening for mutations of GJB2 gene should be conducted. Genetic screening enables establishment of early definite diagnosis for deafness and helps in conducting adequate therapy providing timely rehabilitation and social inclusion of deaf child. Key words: hearing loss, genetic screening, auditory screening, GJB2 gene

scholarly journals Evaluation of the Newborn Hearing Screening Program in The Medical City based on Joint Commission on Infant Hearing (JCIH) 2007 Position Statement Quality Indicators

2018 ◽  
Vol 33 (1) ◽  
pp. 21-24 ◽  
Author(s):  
Mary Harmony B. Que ◽  
Maria Rina T. Reyes-Quintos
Keyword(s):  
Hearing Loss ◽  
Quality Indicators ◽  
Screening Program ◽  
Position Statement ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Response Test ◽  
Newborn Hearing ◽  
Medical City ◽  
Brainstem Response

Objective : The objective of this study is to evaluate the newborn hearing screening program in The Medical City based on the Joint Committee on Infant Hearing (JCIH) 2007 Position Statement Quality Indicators. Methods: Study Design: Cross - Sectional Survey Setting:           Tertiary Private Hospital Participants : All newborns who underwent newborn hearing screening in The Medical City for the year 2015. Results: Of 2,010 patients delivered in the hospital in year 2015, 1,986 (98.8%) were screened.  Among the 59 babies with initial “refer” results, 15 (25.42%) “referred” a second time while 24 (40.68%) “passed” the rescreening. Twenty (33.89%) did not undergo rescreening (10 were classified as dropouts, while another 10 did not undergo rescreening for various reasons. Of those who “referred” during rescreening, only 9 (60%) had further evaluation done with ABR/ASSR. Among these, 4 (26.66%) had hearing loss and proceeded with the appropriate monitoring and management while 5 (33.33%) had normal hearing. Conclusion : The current newborn hearing screening program in the Medical City was able to reach JCIH 2007 quality indicators for screening but not for confirmation of hearing Loss. All patients with hearing loss were managed with early rehabilitation. Keywords: Newborn hearing screening, otoacoustic emission test, auditory brainstem response test, auditory steady state response test

scholarly journals Universal hearing screening of newborn to detect hearing loss and aid in early intervention: multicentre study

2018 ◽  
Vol 5 (6) ◽  
pp. 2114
Author(s):  
Kamal K. Yenamandra ◽  
Pankaj K. Sahu ◽  
Anil Kumar ◽  
N. Rai ◽  
Pankaj K. Thakur
Keyword(s):  
Hearing Loss ◽  
High Risk ◽  
Confidence Interval ◽  
Hearing Impairment ◽  
Risk Group ◽  
Hearing Screening ◽  
New Born ◽  
Screening Protocol ◽  
Brainstem Response ◽  
Universal Hearing Screening

Background: Significant hearing loss is one of the most common major abnormalities present at birth. Screening for hearing loss in new-born is based on two concepts. First, a critical period exists for optimal language skills to develop, and Second, earlier intervention produces better outcomes.Methods: A two-stage screening protocol, in which new-born are screened first with two staged Transient Evoked Oto-acoustic Emissions TEOAE, using handheld TEOAE device, followed by confirmation with Auditory Brainstem Response (ABR). The objective was to study the incidence of hearing impairment in “healthy” and “high risk‟ newborns. A prospective observational study of hearing impairment screening was conducted on 4400 newborns, the study was done as a multi-centre study in 3 different hospitals during January 10 - December 14.Results: 4400 new born, born during the study period were screened, which included 4162(94.7%) healthy neonates and remaining 238(5.3%) high risk neonates. 24 newborn among the cohort of 4400, had hearing impairment confirmed by ABR. The overall incidence of hearing impairment is 5.45/ 1000 screened with 95 % confidence interval between 4.28-11.6. Incidence of hearing impairment in the "no risk‟ group was 2.4/1000 with 95 % confidence interval between 2.01- 4.66. Whereas incidence of 58.8/1000 with 95 % confidence interval is between 1.96-10.32 was seen in "at risk‟ group. Also, this study shows Universal hearing screening of newborns with a two staged screening protocol using TEOAE followed by confirmation with ABR is not only cost effective for detection of hearing loss but also aids in early intervention.Conclusions: The incidence of hearing impairment in our study (5.45 per 1000) is much higher than results shown in previous studies and national average of 4/1000.

scholarly journals Newborn Hearing Screening in Bavaria—Is It Possible to Reach the Quality Parameters?

2018 ◽  
Vol 4 (3) ◽  
pp. 26
Author(s):  
Inken Brockow ◽  
Kristina Söhl ◽  
Uta Nennstiel
Keyword(s):  
Screening Test ◽  
Otoacoustic Emissions ◽  
Tracking System ◽  
Quality Criteria ◽  
Hearing Screening ◽  
Screening Methods ◽  
Newborn Hearing Screening ◽  
Automated Auditory Brainstem Response ◽  
Newborn Hearing ◽  
Brainstem Response

Since the 1 January, 2009, newborn hearing screening (NHS) has been obligatory for every child in Germany. NHS is part of the Pediatrics Directive of the Federal Joint Committee. In this directive, details of the procedures and screening quality to be achieved are given. We evaluate if these quality criteria were met in Bavaria in 2016. The NHS data of children born in 2016 in Bavaria were evaluated for quality criteria, such as screening coverage in screening facilities, screening methods, referral rate (rate of failed tests at discharge) and a child’s age at the diagnosis of a hearing disorder. NHS was documented for 116,776 children born in Bavaria in 2016. In the first step, 78,904 newborns were screened with transient evoked otoacoustic emissions and 37,865 with automated auditory brainstem response. Of these, 9182 (7.8%) failed the first test in one or both ears. A second screening before discharge was performed on 53.3% of the newborns with a refer result in the first test, out of which 58.7% received a pass result. After the screening process, 4.6% of the newborns were discharged with a refer result. Only 18% of the first controls after discharge were performed by a pediatric audiologist. In 37.9% of the newborns, the screening center intervened to assure the control of any failed screening test. The median age of diagnosis for bilateral hearing loss was 5.3 months. In Bavaria, NHS was implemented successfully. A tracking system for all children who failed the hearing screening test is pivotal for early diagnosis and therapy of children with hearing deficiency.

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

Concurrent Hearing and Genetic Screening of 18 001 Neonates with Hearing Diagnose in Nantong, China

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Early Detection ◽  
Genetic Screening ◽  
Late Onset ◽  
Gene Mutations ◽  
Hearing Screening ◽  
12S Rrna ◽  
Drug Induced ◽  
Dna Test ◽  
Deafness Gene

Abstract Objectives: Concurrent hearing and genetic screening of newborns is expected to play an important role in the early detection and diagnosis of congenital deafness, which triggers an intervention, as well as in predicting late-onset and progressive hearing loss and identifying individuals who are at risk of drug-induced hearing loss (HL).Methods: A Deafness Gene Variant Detection Array Kit covering fifteen variants in four genes was used to screen for deafness genes in 18001 infants.Results: A total of 108 neonates did not pass the second hearing screening. In addition, 912 (5.07%) screened positive for deafness-associated variants, including 78 (0.43%) genetically referred and 834 (4.63%) genetic deafness-associated variant carriers. Of the 912 screened positive cases, 880 passed the hearing screening, and 32 failed. A total of 62 (0.34%) cases carried the mtDNA 12S rRNA variants. A total of 108 cases did not pass the hearing screening and underwent a hearing diagnostic examination. An expanded DNA test identified 17 patients who possessed deafness gene mutations, increasing the detection rate to 5.16%.Conclusion: Early detection, diagnosis, and interventions are necessary for newborns who are susceptible to deafness. A good strategy is to use a small panel to quickly screen all subjects and then apply an extended panel to study the cause of deafness in affected patients.

Hearing Screening of High-Risk Newborns with Brainstem Auditory Evoked Potentials: A Follow-up Study

PEDIATRICS ◽  
1984 ◽  
Vol 73 (1) ◽  
pp. 22-26 ◽  
Author(s):  
Dorothy A. Shannon ◽  
Jacob K. Felix ◽  
Allan Krumholz ◽  
Phillip J. Goldstein ◽  
Kenneth C. Harris
Keyword(s):  
Hearing Loss ◽  
High Risk ◽  
Predictive Value ◽  
Screening Test ◽  
Normal Hearing ◽  
Hearing Screening ◽  
Auditory Evoked Potential ◽  
Hearing Level ◽  
Lost To Follow Up

Numerous techniques have been used in attempts to find a reliable and efficient screening method for determining auditory function in the newborn. The brainstem auditory evoked potential (BAEP) is the latest method advocated for that purpose. The BAEP was evaluated as a hearing screening test in 168 high-risk newborns between 35 and 45 weeks of conceptual age. Follow-up data were obtained after 1 year (mean 17.3 months) on 134 of the infants (80%). Normal hearing was defined as a reproducible response in both ears to a 25 dB normal hearing level (nHL) click stimulus; 21 infants (12.5%) failed the initial screening test. Follow-up on 19/21 infants revealed 18 infants with normal hearing and one infant with an 80 dB nHL bilateral hearing loss substantiated. One infant with an abnormal screening test died before retesting, and the other infant was lost to follow-up but had only a unilaterally abnormal BAEP. None of the infants with a normal BAEP screening study had evidence of hearing loss on retesting. Sensitivity of the BAEP was 100%, specificity was 86%, predictive value of a positive test was 5.26%, and the predictive value of a negative test was 100%. The incidence of significant hearing loss in our population was between 0.75% (1/134 infants) confirmed, and 2.24% (3/134 infants) including infants who failed screening but were lost to follow-up. The BAEP is a sensitive procedure for the early identification of hearing-impaired newborns. However, the yield of significant hearing abnormalities was less than predicted in other studies using BAEP for newborn hearing screening.

Spectrum of the GJB2 mutations in Belarussian patients with hearing loss. Findings of pilot genetic screening of hearing impairment in newborns

2014 ◽  
Vol 50 (2) ◽  
pp. 191-197 ◽  
Author(s):  
E. A. Bliznetz ◽  
D. N. Martsul ◽  
O. G. Khorov ◽  
T. G. Markova ◽  
A. V. Polyakov
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Genetic Screening ◽  
Gjb2 Mutations

scholarly journals Hearing evaluation of infants suspected of having hearing loss with a newborn hearing screening program

2005 ◽  
Vol 48 (2) ◽  
pp. 135-141 ◽  
Author(s):  
Shoichiro Fukuda ◽  
Naomi Toida ◽  
Kunihiro Fukushima ◽  
Yuko Kataoka ◽  
Kazunori Nishizaki
Keyword(s):  
Hearing Loss ◽  
Screening Program ◽  
Hearing Screening ◽  
Newborn Hearing Screening ◽  
Newborn Hearing ◽  
Hearing Evaluation
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