OBJECTIVE To identify chromosomal regions that show evidence of linkage to age-associated hearing impairment (presbycusis) in humans. DESIGN We evaluated the genetic linkage between quantitative measures from audiometric examinations and markers from a genomewide scan in a population-based sample ascertained without respect to hearing status. PARTICIPANTS Audiometric examinations were condu...

CHARGE syndrome is a multiple congenital anomaly disorder that leads to life-threatening birth defects, such as choanal atresia and cardiac malformations as well as multiple sensory impairments, that affect hearing, vision, olfaction and balance. CHARGE is caused by heterozygous mutations in CHD7, which encodes an ATP-dependent chromatin remodeling enzyme. Identification of the mechanisms under...

DFNB1 locus has been linked to a nonsyndromic “invisible disability” called congenital sensorineural hearing loss and deafness. Mutations of GJB2 and GJB6 genes are associated with deafness at the DFNB1 locus. The diagnosis of DFNB1 is made with molecular genetic testing. DNA-based testing can be used both prenatally and postnatally. Purpose: To get evidence for implementation of newborn hearin...

Objectives: Language development is often very slower in hearing impaired children compared with their normal peers. Hearing impairment during childhood affects all aspects of speech production and language acquisition. It seems that hearing impaired people suffer from language and speech impairments such as production of complex linguistic structures. The purpose of this study is to determine ...

Mutations in the gap junction protein connexin 26 (Cx26) gene (GJB2) seem to account for many cases of congenital sensorineural hearing impairment, the reported prevalence being 34-50% in autosomal recessive cases and 10-37% in sporadic cases. The hearing impairment in these patients has been described as severe or profound. We have studied 53 unrelated subjects with congenital non-syndromic se...

This symposium aims at sharing the preliminary data that are available on language acquisition in very young children with a cochlear implant. Congenital sensorineural hearing loss occurs in approximately 2 per 1000 newborns and results in significant and often irreversible retardation in the development of speech and language. Early detection is possible thanks to universal hearing screening p...