Cochlear implantation in individuals with Usher type 1 syndrome

Liu, Xue Z.; Angeli, Simón I.; Rajput, Kaukab; Yan, Denise; Hodges, Annelle V.; Eshraghi, Adrien A.; Telischi, Fred F.; Bałkany, Thomas J.

doi:10.1016/j.ijporl.2008.02.013

Cited by 53 publications

(57 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Stimuli were presented using a monitored live voice with the face of the clinician hidden behind a mesh screen. The presentation level was approximately 70 dB SPL as determined with a handheld sound level meter as previously described [13][14][15]. Patients were instructed to repeat each stimulus item presented.…”

Section: Methodsmentioning

confidence: 99%

The influence of various factors on the performance of repetition tests in adults with cochlear implants

Moon

Kim

Jeong

et al. 2011

Eur Arch Otorhinolaryngol

View full text Add to dashboard Cite

A variety of internal and external factors influence speech perception performance following cochlear implantation (CI) in adult deaf patients. The aim of this study was to evaluate the speech perception performance during repetition testing according to various factors and to identify the predictive factors associated with postoperative speech perception. The performances on speech perception under audio-only conditions were examined over time in 61 adult patients with CI. Mono- and bi-syllable and sentence repetition testing, using both the Korean version of the Central Institute for the Deaf (K-CID) and the K-Western Aphasia Battery test (K-WAB), were performed preoperatively and at 3, 6 and 12 months postoperatively. To elucidate the effect that the etiology of deafness has on postoperative outcome, patients were divided into the following four groups: Prelingual hearing loss (HL) (n = 9), Meningitis (n = 6), Progressive HL (n = 31) and Sudden HL groups (n = 15). Moreover, the duration of HL and deafness was defined as follows: (1) "age of deafness onset: AoD", (2) "number of years between the onset of profound deafness and CI: DoD" and (3) "percentage of the patient's life with moderate-to-profound hearing loss before CI: PoL". DoD and PoL were significantly different between the four groups. Although AoD appeared to be associated with performance on the sentence repetition test before standardizing for education level and age (P = 0.015), there was no association after adjusting for these factors (P = 0.719). Only PoL showed a good correlation with performance on repetition testing after CI after adjusting for AoD and DoD. However, DoD was associated with speech perception performance on the sentence repetition test only. In addition, speech perception performance results in the Progressive and Sudden HL groups were improved over the Prelingual HL and Meningitis groups. The Meningitis group showed the poorest speech perception performance among postlingually deaf adults. Consideration of age, education level, etiology and overall time with hearing loss may be necessary for predicting speech perception outcomes in CI recipients.

show abstract

Section: Methodsmentioning

confidence: 99%

The influence of various factors on the performance of repetition tests in adults with cochlear implants

Moon

Kim

Jeong

et al. 2011

Eur Arch Otorhinolaryngol

View full text Add to dashboard Cite

show abstract

“…Such variability has been reported in patients with Usher syndrome type 1 (USH1) (Online Mendelian Inheritance in Man no. 276900) (3,4). Patients with USH1 suffer from congenital profound deafness and balance defects, and they subsequently undergo sight loss leading to blindness.…”

mentioning

confidence: 99%

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Emptoz

Michel

Lelli

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

101

View full text Add to dashboard Cite

Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital profound deafness and balance disorders. These mice lack the scaffold protein sans, which is involved both in the morphogenesis of the stereociliary bundle, the sensory antenna of inner ear hair cells, and in the mechanoelectrical transduction process. We show that a single delivery of the sans cDNA by the adenoassociated virus 8 to the inner ear of newborn mutant mice reestablishes the expression and targeting of the protein to the tips of stereocilia. The therapeutic gene restores the architecture and mechanosensitivity of stereociliary bundles, improves hearing thresholds, and durably rescues these mice from the balance defects. Our results open up new perspectives for efficient gene therapy of cochlear and vestibular disorders by showing that even severe dysmorphogenesis of stereociliary bundles can be corrected.gene | therapy | balance | mouse | Usher

show abstract

“…However, electroretinography is a sophisticated test requiring general sedation in children and therefore not routinely used in the clinic (Liu et al, 2008). Pennings et al (2006) conducted gene tests in 14 CI patients and found mutations in half of these patients.…”

Section: Usher Syndromementioning

confidence: 99%

“…Cochlear implant is therefore especially important as a way to acquire hearing and speech functions in these patients. Liu et al (2008) compared speech rehabilitation results following cochlear implant among a group of patients with USHI syndrome aging from 2 to 15 years. Both open and closed sets word test scores showed the greatest increase in children <3 years of age when receiving cochlear implant than in those receiving implant at an age older than 6 years, indicating that early intervention before loss of vision is crucial to development of effective hearing and speech capabilities.…”

Section: Usher Syndromementioning

confidence: 99%

Cochlear implants in genetic deafness

Liu

2014

Journal of Otology

View full text Add to dashboard Cite

Genetic defects are one of the most important etiologies of severe to profound sensorineural hearing loss and play an important role in determining cochlear implantation outcomes. While the pathogenic mutation types of a number of deafness genes have been cloned, the pathogenesis mechanisms and their relationship to the outcomes of cochlear implantation remain a hot research area. The auditory performance is considered to be affected by the etiology of hearing loss and the number of surviving spiral ganglion cells, as well as others. Current research advances in cochlear implantation for hereditary deafness, especially the relationship among clinic-types, genotypes and outcomes of cochlear implantation, will be discussed in this review.

show abstract

Cochlear implantation in individuals with Usher type 1 syndrome

Cited by 53 publications

References 29 publications

The influence of various factors on the performance of repetition tests in adults with cochlear implants

The influence of various factors on the performance of repetition tests in adults with cochlear implants

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Cochlear implants in genetic deafness

Contact Info

Product

Resources

About