Performance of speech perception after cochlear implantation in DFNB1 patients

Abstract

Overall, the two groups showed similar significant improvement in speech perception after implantation.

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

“…The results show that cochlear implantation is effective in the development of speech perception after cochlear implantation in GJB2-related deafness to a similar extent as in deafness due to unknown etiology. These findings are in agreement with findings obtained by other authors (4,13,(15)(16)(17)(18)(19)(20)(21)(22). A recent long term follow-up of cochlear implantation in children with GBJ2-related deafness in Japan showed similar developments in speech performance in comparison with hearing loss due to other etiologies (23).…”

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

“…According to previously published studies from different countries, biallelic GJB2 mutations account for 0-45.8% of deafness cases in implanted patients [10,11]. In our cohort, we found causal genotype in 49% of all tested subjects.…”

“…The other issue emerging is the small number of tested subjects in several published works, which could affect the reliability of statistical outcomes [11,16]. In some cases, even the recessive heterozygotes have been placed in the 'connexin group,' although their deafness could not be attributed to the detected genotype [17].…”

Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania

“…For the previously mentioned reasons, some authors recommend the introduction of generalized genetic screening in newborns, which also allows the early detection of heterozygotes, of which some can develop severe hearing impairment when other mutations are associated [42,43]. The early detection of GJB 2 mutations following neonatal screening allows early diagnosis and intervention, which are crucial for speech development [44,45]. Audiological screening in newborns should generally be carried out according to the following sequence: acoustic otoemission !…”