Quality of Life and Cochlear Implantation in Usher Syndrome Type I

Abstract

Objectives: The objectives of this descriptive, retrospective study were to evaluate quality of life, hearing, and vision in patients with Usher syndrome type I with and without cochlear implant. Methods: Quality of life (QoL) of 14 patients with Usher type I (USH1) with a cochlear implant (CI) (seven adults, seven children) was compared with those of 14 patients with USH1 without a CI (12 adults, two children) by means of three questionnaires: NCIQ, SF12, and the Usher Lifestyle Survey. Additional information on hearing level was obtained by the equivalent hearing loss (EHL) principle and on the visual deterioration by the functional vision score (FVS). Results: A significant benefit of CI was seen in the hearing‐specific questionnaire NCIQ. This difference could not be detected in the generic SF12 survey. The Usher Lifestyle Survey indicated that patients with USH1 with a CI tend to be able to live an independent life more easily than the profoundly deaf unimplanted patients with USH1. EHL and FVS scores varied in both groups. Conclusions: Overall QoL can be enhanced by CI in patients with USH1, although effects are mostly seen in hearing‐related QoL items.

Nijmegen Cochlear Implantation Questionnaire (NCIQ): tradução, adaptação cultural e aplicação em adultos usuários de implante coclear

“…Other previous studies have reported that the benefit of speech perception seems to be a predictor of gains in QoL (24)(25)(26) . The high overall score obtained in this study for the subdomains basic and advanced sound perception, which belong to the physical domain, has also been described in the specific scientific literature (10,14,24,27,28) . Possibly, these subdomains reflect more punctually the direct benefits of CI use, in the sense of providing better and greater access to speech sounds and, with this, reducing the impact of hearing impairment on communication situations.…”

“…Other studies have also identified that these subdomains were characterized as the aspects that best reflected the direct benefits of using this technology (10,27) . Regarding the time of CI use, no correlation was found between this variable and the scores obtained in the domains and subdomains of the questionnaire.…”

“…It is a specific instrument used by several researchers to evaluate a variety of aspects associated with the QoL of the adult CI user population which evidences the impact of the use of this electronic device on the daily life situations of its users, on the perception of speech sounds, and on the cost-benefit assessment of this type of intervention (9)(10)(11) . In addition, the NCIQ can also be used to monitor the impact of technological innovations and of the auditory rehabilitation process on the QoL of adult CI users over the time of device use (12)(13)(14) .…”

Quality of Life in Pediatric Cochlear Implantations

“…Internationally published studies that relate to quality of life after cochlear implantation are gradually increasing in the literature [7][8][9] . Cochlear implantation has been performed for more than 20 years, and we estimate that there are approximately 9000 users in Turkey.…”

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

“…47 For example, early use of cochlear implants may rescue children from a dual neurosensory deficit in cases where the evidence predicts that children will go on to develop retinitis pigmentosa. 48,49 In this study, DFNB23 alleles predict an isolated deafness, an important distinction from USH1F, as there is no evidence from either the Newfoundland or the Pakistani probands that a positive genetic test in children would predict a double sensory loss like that for USH1.…”