Better speech performance in cochlear implant patients with GJB2-related deafness

Language and Speech Perception Outcomes in Hearing-Impaired Children with and without Connexin 26 Mutations

“…In a study of 20 children with cochlear implants, Green et al [2002] concluded that cochlear implant recipients with GJB2-caused deafness read within 1 standard deviation of hearing controls better than other congenitally deaf cochlear recipients. A study of 7 cochlear implant patients, of whom 3 were deaf due to connexin 26 mutations, suggested that speech perception outcomes were significantly better in patients with connexin 26 mutations than in those with unknown aetiologies [Fukushima et al, 2002]. The results of the present study also differ from those obtained by Fukushima et al [2002], who concluded that 'better speech performance after cochlear implantation may be observed in persons with GJB2-related deafness'.…”

“…Nevertheless, little is known about the correlation between aetiology, speech perception and language outcome. Mutations in the connexin 26 gene are a common cause of congenital deafness, and initial studies have suggested that cochlear implant children with deafness caused by connexin 26 do at least as well, or better, as those with an unknown aetiology [Fukushima et al, 2002;Green et al, 2002;Matsushiro et al, 2002]. Although these studies are informative, they only included children with cochlear implants.…”

“…Although these studies are informative, they only included children with cochlear implants. The number of children investi-gated was in 2 cases too small to make statistically significant conclusions [Fukushima et al, 2002;Matsushiro et al, 2002], and no attempts were made to compensate for factors known to affect speech perception and language development. This study addresses some of these issues.…”

Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness

“…Some studies have shown that children with the connexin 26 mutation had better speech perception outcomes after cochlear implantation and greater benefits in language expression tests than children with deafness of unknown etiology (24)(25)(26). A recent study of Portuguese children with cochlear implants showed that DFNB1 status is significantly associated to higher oral performance scores, i.e.…”

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns

“…Universal neonatal hearing screening programs are the current trend and have become popular in many countries (Govaerts et al 2001; Joint Committee on Infant Hearing 2000; Mehl and Thomson 2002;National Institutes of Health 1993), because it is thought that optimum language development requires early identification of hearing loss and early intervention (Yoshinaga-Itano et al 1998). Cochlear implantation has resulted in remarkable improvement in auditory skills and development of speech production for patients with profound hearing loss associated with GJB2 mutations (Fukushima et al 2002;Matsushiro et al 2002). It is clear that genetic testing to determine the cause of deafness facilitates prediction of the course of hearing loss and prognostication of language development.…”