OBJECTIVES To investigate speech and language outcomes in children with cochlear implants (CIs) who had mutations in common deafness genes and to compare their performances with those without mutations. STUDY DESIGN Prospective study. METHODS Patients who received CIs before 18 years of age and had used CIs for more than 3 years were enrolled in this study. All patients underwent mutation s...

Introduction: Hearing impairment is a complex medical disorder whichhas genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of genetic variants in the GJB2 gene are different in each population. This study aimed to discuss the GJB2 gene status in an Iranian population with he...

Introduction: Non-syndromic hearing loss (NSHL) in children, which has numerous causes, can impede or even postpone the acquisition of spoken language. In Viet Nam, screening programs and genetic testing for NSHL are rarely applied. this study, 31 pediatric patients had their medical histories collected alongside sequencing results GJB2 TECTA genes to determine prevalence these mutations commun...

OBJECTIVES To determine the prevalence of refractive and nonrefractive ophthalmologic abnormalities in children with sensorineural hearing loss (SNHL) and to evaluate the overall utility of routine ophthalmological examination in children with SNHL. DESIGN An institutional review board-approved retrospective analysis of ophthalmologic findings in children (18 years and younger) with SNHL seen...

OBJECTIVE There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletion...

Hearing loss (HL) is a congenital disease with a high prevalence, and patients with hearing loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 genes have been reported as common causative genes of hearing loss in the Korean population and some mutations of these genes are the most common mutations associated with hearing loss. Accordingly, we developed a meth...

The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI who attended special education schools in northwest China were enrolled in the present study. Single-nucleotide polymorphisms (SNPs) in three common deafness‑related...