scholarly journals The role of gene GJB2 and connexin 26 in hearing impairment

2018 ◽  
Vol 90 (6) ◽  
pp. 5-11
Author(s):  
Asmaa Missoum ◽  
Keyword(s):  
Hearing Impairment ◽  
Connexin 26 ◽  
Gene Gjb2

The Role Of Assistive Devices In The Rehabilitation Of Hearing Impairment

1997 ◽  
Vol 30 (5) ◽  
pp. 803-847 ◽  
Author(s):  
Carl F. Loovis ◽  
COL David G. Schall, MD ◽  
Darrel L. Teter
Keyword(s):  
Hearing Impairment ◽  
Assistive Devices

scholarly journals Rapid learning of minimally different words in five- to six-year-old children: effects of acoustic salience and hearing impairment

2015 ◽  
Vol 43 (2) ◽  
pp. 310-337 ◽  
Author(s):  
MARCEL R. GIEZEN ◽  
PAOLA ESCUDERO ◽  
ANNE E. BAKER
Keyword(s):  
Cochlear Implant ◽  
Hearing Impairment ◽  
Normal Hearing ◽  
Task Demands ◽  
Deaf Children ◽  
Matching Task ◽  
Object Matching ◽  
Rapid Learning ◽  
Minimal Pairs

AbstractThis study investigates the role of acoustic salience and hearing impairment in learning phonologically minimal pairs. Picture-matching and object-matching tasks were used to investigate the learning of consonant and vowel minimal pairs in five- to six-year-old deaf children with a cochlear implant (CI), and children of the same age with normal hearing (NH). In both tasks, the CI children showed clear difficulties with learning minimal pairs. The NH children also showed some difficulties, however, particularly in the picture-matching task. Vowel minimal pairs were learned more successfully than consonant minimal pairs, particularly in the object-matching task. These results suggest that the ability to encode phonetic detail in novel words is not fully developed at age six and is affected by task demands and acoustic salience. CI children experience persistent difficulties with accurately mapping sound contrasts to novel meanings, but seem to benefit from the relative acoustic salience of vowel sounds.

scholarly journals Expression levels of the BAK1 and BCL2 genes highlight the role of apoptosis in age-related hearing impairment

2016 ◽  
pp. 1003 ◽  
Author(s):  
Masoumeh Falah ◽  
Mohammad Najafi ◽  
Massoud Houshmand ◽  
Mohammad Farhadi
Keyword(s):  
Hearing Impairment ◽  
Expression Levels ◽  
Age Related

Connexin 26 gene: Defining the role of the V1531 mutation

2007 ◽  
Vol 5 (3) ◽  
pp. 200-206 ◽  
Author(s):  
Veronica I. Guerci ◽  
Domenico L. Grasso ◽  
Marcello Morgutti ◽  
Antonio Amoroso ◽  
Paola D'Andrea ◽  
...  
Keyword(s):  
Connexin 26

scholarly journals Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

2018 ◽  
Vol 55 (8) ◽  
pp. 555-560 ◽  
Author(s):  
Kevin T Booth ◽  
Kimia Kahrizi ◽  
Hossein Najmabadi ◽  
Hela Azaiez ◽  
Richard JH Smith
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Loss Of Function ◽  
Bioinformatics Pipeline ◽  
Exon 2 ◽  
Reading Frame ◽  
Sequencing Platform ◽  
Syndromic Hearing Impairment ◽  
Generation Sequencing

BackgroundHearing loss is a genetically and phenotypically heterogeneous disorder.ObjectivesThe purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families.MethodsWe used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays.ResultsWe identified two homozygous splice-altering variants (c.37G>T and c.662–1G>C) in the CEACAM16 gene, segregating with the deafness in each family. The minigene splicing results revealed the c.37G>T results in complete skipping of exon 2 and loss of the AUG start site. The c.662–1G>C activates a cryptic splice site inside exon 5 resulting in a shift in the mRNA reading frame.ConclusionsThese results suggest that loss-of-function mutations in CEACAM16 result in postlingual progressive hearing impairment and further support the role of CEACAM16 in auditory function.

Specificity of use of computer technology in education of geography of students with hearing impairment

2017 ◽  
Vol LXXVIII (1) ◽  
pp. 41-52
Author(s):  
Aigerim Makhmetova
Keyword(s):  
Hearing Impairment ◽  
Personal Experience ◽  
Science Curriculum ◽  
Educational Process ◽  
Educational Activity ◽  
Technology In Education ◽  
Computer Technologies ◽  
Elementary Knowledge ◽  
The Relationship

The article reviews the use of computer technologies at different stages of the lesson and its combination with other techniques and methods of educational activity, as well as observations of practical activity of teachers in special (remedial) schools. The article also evaluates the potential of geography as an academic subject in a special (remedial) school. A lesson of geography in a special school meaningfully integrates the knowledge of nature, society and humans, through which systematization and expansion of understanding objects and phenomena of the surrounding environment is exercised in the students. Geography as a subject of natural science curriculum offers significant opportunities for the development of elementary knowledge on objects and phenomena of animate and inanimate nature, the relationship and interdependence of humans and nature in students with hearing impairment; enriching personal experience of children as a result of systematic observations; the development of required practical skills in the students.The researchers note the significant role of geography lessons in remediating mental and psychological deficiencies in students from special (remedial) institutions. Geography as a subject in a special (remedial) school has an exceptional importance for the overall development of the students.The use of computer technologies in teaching geography to children with hearing impairment is difficult due to the lack of specially designed electronic aids, particularly taking into account the age and mental development of children in this category and guidelines for working with modern TME.The researchers emphasize the significance of visualization in the process of teaching geography to students with hearing impairment as well as note the need for a reasonable combination of verbal, visual and practical methods.This article presents the results of ascertaining experiment and the results of a survey among teachers. Observations of the educational process and surveying the teachers of special (remedial) schools at the stage of the ascertaining experiment revealed the basic forms, tools, techniques and methods of teaching geography to students with hearing impairment.

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