Delayed Diagnosis of Childhood Deafness: The Value of False Negatives in the Programme for Early Detection of Neonatal Hearing Loss

2016 ◽  
Vol 67 (6) ◽  
pp. 324-329
Author(s):  
María C. Martínez-Pacheco ◽  
Luis Ferrán de la Cierva ◽  
Francisco J. García-Purriños
2014 ◽  
Vol 5 ◽  
pp. S157
Author(s):  
C. Vázquez ◽  
L.M. Gigirey ◽  
C.P. del Oro ◽  
S. Seoane

2008 ◽  
Vol 119 (9) ◽  
pp. e144
Author(s):  
E.B. Nuñez ◽  
R.M. Pérez ◽  
M. Amador ◽  
S. Batista

2021 ◽  
Author(s):  
Jianhua Chen ◽  
Qingwen Zhu ◽  
Jingyu Li ◽  
Jing Wang ◽  
Wenjun Bian ◽  
...  

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.


2020 ◽  
Vol 73 (3) ◽  
pp. 981-990 ◽  
Author(s):  
Takayuki Okano ◽  
Yosuke Yamamoto ◽  
Akira Kuzuya ◽  
Naohiro Egawa ◽  
Koji Kawakami ◽  
...  

1988 ◽  
Vol 97 (2) ◽  
pp. 133-137 ◽  
Author(s):  
R. J. A. M. van der Hulst ◽  
W. A. Dreschler ◽  
N. A. M. Urbanus

The results of clinical use of routine high frequency audiometry in monitoring the ototoxic side effects of platinum and its derivatives are described in this prospective study. After demonstrating the reproducibility of the technique, we discuss the first results of an analysis of ototoxic side effects in 75 patients (150 ears). Significant differences in the pattern of hearing loss were registered for the different platinum treatment groups (cisplatin 20 mg/m2, cisplatin 50 mg/m2, and carboplatin 350 mg/m2). In the groups receiving cisplatin 50 mg/m2 and carboplatin 350 mg/m2, 42% and 25%, respectively, of the investigated ears proved to be undamaged, versus 9% undamaged in the group receiving cisplatin 20 mg/m2 (p< .01). Ototoxic hearing loss started mainly (46% to 70%) in the higher frequencies (10,000 to 18,000 Hz) and developed into a broader-range hearing loss (1,000 to 18,000 Hz) during treatment in 13% to 43% (p< .01). The onset of hearing damage was influenced by the patient's age (p< .001) and the existence of a troubled otologic history (p< .05). The study demonstrates the important role of high frequency audiometry in early detection and monitoring of ototoxic damage.


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