Outcome of cochlear implantation in children with congenital cytomegalovirus infection or GJB2 mutation.
ABSTRACT Outcomes following cochlear implantation in children with congenital cytomegalovirus (CMV) infection were almost equivalent to those of children with GJB2 mutation-related sensorineural hearing loss (SNHL). Although our patients with developmental disorder showed poor auditory performance and speech and language skills after cochlear implantation, SNHL with developmental disorder should not be a contraindication for the procedure.
Congenital CMV infection accounts for approximately 20% of all cases of neonatal hearing loss, while the GJB2 mutation accounts for 30-50% of all cases of profound nonsyndromic hearing loss. Here, outcomes for auditory behavior and speech and language skills were compared in children with congenital CMV infection or GJB2 mutation who received cochlear implantation for profound SNHL.
Five children with asymptomatic congenital CMV infection and seven children with GJB2 mutation-related SNHL, with and without developmental disorder, underwent cochlear implantation. Hearing level and speech and language development were evaluated post-implantation using IT-MAIS, MUSS, and S-S method.
The IT-MAIS and MUSS scores of the congenital CMV infection group and the GJB2 mutation group continued to increase for 4 years after implantation. The S-S method score in both groups gradually increased, although the scores for children with mental retardation were low.
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ABSTRACT: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. We screened a Tunisian child affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G>A) and p.R143Q (c.428G>A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient.International journal of pediatric otorhinolaryngology 07/2013; · 0.85 Impact Factor
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ABSTRACT: Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most important mutations in this gene is the c.35delG, which is responsible for the majority of GJB2 related deafness in the Tunisian population. The aim of this study was to determine the molecular etiology of hearing loss in two Tunisian individuals. We screened two Tunisian individuals affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. We identified a novel frameshift mutation in the GJB2 gene, the c.405delC resulting in a truncated protein (p.Tyr136Thrfs*32). It was found in compound heterozygosity with the c.35delG in two non-consanguineous unrelated families from Tunisia. One patient underwent a cochlear implant at 4 years. Initial evaluations post-implantation indicate a successful cochlear implant outcome since the patient began to acquire language abilities and auditory sensation. With this novel GJB2 mutation, the mutational spectrum of this gene continues to broaden in our population. The occurrence of biallelic GJB2 mutations for the other deaf girl, despite the neonatal pain and hypotension due to complicated delivery, led us to confirm the importance of GJB2 screening for cochlear implant candidates regardless of the etiology of deafness in populations with a relatively high frequency of GJB2 mutation carriers.International journal of pediatric otorhinolaryngology 07/2013; · 0.85 Impact Factor
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ABSTRACT: Objective To compare the long-term speech perception and production outcomes after cochlear implantation (CI) in children deafened by congenital cytomegalovirus (cCMV) with a matched group of Cx26-CI children by controlling for chronological age and magnetic resonance imaging (MRI) findings. Methods Retrospective review of 12 cCMV-CI children and matched Cx26-CI children for speech perception and speech production outcomes. Results Two trends were seen in our data. First, cCMV-CI children with normal MRI scans perform equally or even slightly better on speech perception tests compared to their Cx26-CI peers during the first three years. The majority of cCMV-CI children with normal MRI scans (5 out of 7), suffered from a delayed-onset SNHL. Their mean age at first implantation (2yr9m, range 15m-82m) was higher compared to their matched Cx26 peers (9m, range 7m-12m). Before being implanted, the majority of these delayed-onset hearing impaired children had benefitted from a certain period of normal hearing (with or without amplification of a hearing aid). Possibly, this input might have led to an advantage the first three years after CI. Second, results between cCMV-CI children with and cCMV-CI children without MRI abnormalities and their matched Cx26-CI counterparts tentatively suggest that, over a 5-yr follow-up period, cCMV-CI children with abnormalities on MRI scans catch up for speech perception, but lag behind for speech production. Conclusion cCMV-CI children with normal MRI scans perform equally or even slightly better on speech perception tests compared to their Cx26-CI peers during the first three years, whereas results between cCMV-CI children with and cCMV-CI children without MRI abnormalities and their matched Cx26-CI counterparts tentatively suggest that, over a 5-yr follow-up period, cCMV-CI children with abnormal MRI scans catch up for speech perception, but lag behind for speech production. In future, the inclusion of MRI results may assist in improved counseling of parents with cCMV deafened children seeking CI.International journal of pediatric otorhinolaryngology 01/2013; · 0.85 Impact Factor