scholarly journals Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

PLoS Genetics ◽  
2020 ◽  
Vol 16 (5) ◽  
pp. e1008826 ◽  
Author(s):  
Shigefumi Morioka ◽  
Hirofumi Sakaguchi ◽  
Hiroaki Mohri ◽  
Mariko Taniguchi-Ikeda ◽  
Motoi Kanagawa ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Hearing Impairment ◽  
Cochlear Nerve ◽  
Congenital Hearing Impairment

scholarly journals Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

2019 ◽  
Vol 28 (5) ◽  
pp. 587-596 ◽  
Author(s):  
Lilian Downie ◽  
◽  
Jane Halliday ◽  
Rachel Burt ◽  
Sebastian Lunke ◽  
...  
Keyword(s):  
Cohort Study ◽  
Exome Sequencing ◽  
Hearing Impairment ◽  
Population Based ◽  
Congenital Hearing Impairment

Antenatal diagnosis of duodenal atresia in dizygotic twins associated with congenital hearing impairment

2011 ◽  
Vol 24 (6) ◽  
pp. 871-872
Author(s):  
Stavros Sifakis ◽  
Ourania Koukoura ◽  
Nikitas Mantas ◽  
Eleftheria Papadopoulou ◽  
Maria Grigoriadou ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Antenatal Diagnosis ◽  
Duodenal Atresia ◽  
Dizygotic Twins ◽  
Congenital Hearing Impairment

scholarly journals Universal Neonatal Hearing Screening - a Necessity and not a Choice

2015 ◽  
Vol 23 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Saikat Samaddar ◽  
Swagatam Banerjee ◽  
Sanjoy Kumar Ghosh ◽  
Subhra Bhattacharya ◽  
Diptanshu Mukherjee ◽  
...  
Keyword(s):  
High Risk ◽  
Hearing Impairment ◽  
Risk Group ◽  
High Risk Group ◽  
Hearing Screening ◽  
Congenital Deafness ◽  
Neonatal Hearing Screening ◽  
Universal Neonatal Hearing Screening ◽  
Congenital Hearing Impairment ◽  
Evoked Response Audiometry

INTRODUCTION Congenital deafness in a child is often missed. Several distraction tests have evolved over time to diagnose congenital deafness. These are of limited value in the era of Evoked response audiometry. Evoked responses, such as Oto-acoustic emission (OAE) and Brainstem Evoked Response Audiometry (BERA) have played a significant role in early diagnosis of congenital hearing impairment. The study was conducted to compare the result of neonatal hearing screening in high risk and non high risk neonates.   MATERIALS AND METHODS A study was conducted over a time period of three months at a tertiary care institute to screen all live neonates for congenital hearing impairment using OAE and BERA.   RESULT 1182 neonates were screened for hearing impairment. 336 were in High risk group and rest in Non high risk group. Nine neonates turned out to have abnormal BERA result (absence of wave V). Six of them were high risk babies and rest 3 were non high risk.   DISCUSSION 33.33% of congenital deaf population detected by UNHS belong to the Non High Risk group. Studies across the world suggest at least 50% chance of missing out a congenital deaf child if Universal Neonatal Hearing Screening is not practiced.   CONCLUSION In order to ensure that early detection and effective intervention are made on all newborns with hearing impairment, UNHS should be performed. Three stage UNHS protocol using TEOAEs and BERA showed that the implementation of UNHS for congenital childhood hearing loss among all newborns in India feasible and effective.

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