Outcomes of cochlear implantation in Usher syndrome: a systematic review.

PURPOSE: This study is a systematic review of the literature which seeks to evaluate auditory and quality of life (QOL) outcomes of cochlear implantation in patients with Usher syndrome. METHODS: Systematic review of studies indexed in Medline via PubMed, Ovid EMBASE, Web of Science, CENTRAL and clinicaltrials.gov was performed up to March 9th 2022, conducted in accordance with the PRISMA statement. Patient demographics, comorbidity, details of cochlear implantation, auditory, and QOL outcomes were extracted and summarized. RESULTS: 33 studies reported over 217 cochlear implants in 187 patients with Usher syndrome, comprising subtypes 1 (56 patients), 2 (9 patients), 3 (23 patients), and not specified (99 patients). Auditory outcomes included improved sound detection, speech perception, and speech intelligibility. QOL outcomes were reported for 75 patients, with benefit reported in the majority. CONCLUSIONS: Many patients with Usher syndrome develop improved auditory outcomes after cochlear implantation with early implantation being an important factor.

Outcomes of cochlear implantation in children with Usher syndrome: a long-term observation.

PURPOSE: To evaluate auditory performance and speech intelligibility of children with Usher syndrome up to 10 years after cochlear implantation. METHODS: Thirty-five children with USH were compared to 46 non-syndromic patients regarding age at implantation. Auditory performance and speech intelligibility was assessed with standard tools. Genetic counseling, vestibular tests, imaging studies, and ophthalmological findings were evaluated, depending on the availability. RESULTS: The mean age of implantation in USH children was 6.3 years (SD 4.6, range 0.3-17.6 years). Post-implantation values of the studied parameters were compared between USH and NS children and presented as follows: PTA = 25.0 dB HL vs. 28.4, CAP = 5.3 vs. 5.1, SIR = 4.1 vs. 3.9, MAIS = 82.3% vs. 80.5%, MUSS = 81.8% vs. 76.6%. There were no statistically significant differences between the USH and NS groups (p > 0.005). USH patients reached a higher score ceiling earlier compared to NS patients. Children implanted before 3 years of age achieved significantly higher results than older children in USH and NS groups (p < 0.005). In all patients with USH, the electroretinogram was abnormal. Vestibular examination was abnormal in 29 of 31 patients with USH1. Imaging studies revealed no inner ear or auditory nerve anomalies in patients with USH. CONCLUSION: Cochlear implantation successfully improves auditory performance and speech intelligibility in patients with USH, especially those implanted under 3 years of age. The electroretinogram is the only reliable test to establish a diagnosis of USH. Logopedic outcomes are associated with early implantation, and early diagnosis of USH contributes to optimizing speech therapy.

Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II.

BACKGROUND: The aim of this article is to describe visual outcomes and posterior rehabilitation of the first Usher syndrome type II (USH2) patient receiving an Argus II (®) prosthesis. CASE PRESENTATION: We present a case of a USH2 patient who underwent Argus II prosthesis surgery at the age of 53. He had hearing loss from birth and presented a very poor visual field with good light perception. He communicated through sign language translated by his interpreter, who explained all the information regarding the surgical procedure and who assisted in the posterior visual therapy. Sixteen months after surgery, the patient communicates more fluently with sign language and is able to identify letters with high contrast over 6 cm and words up to four letters. CONCLUSIONS: This is the first case described in the literature of a USH2 patient receiving an Argus II prosthesis This is an alternative treatment for USH2 patients, whose interpreters are essential in the selection process and subsequent rehabilitation after surgery.

The outcome of cochlear implantation among children with genetic syndromes.

OBJECTIVE: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes. METHOD: Study design: case-control study. SETTING: A cochlear implantation tertiary referral center. PATIENTS: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy-Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use. INTERVENTION: Cochlear implantation. MAIN OUTCOME MEASURES: Subjects' auditory abilities, speech intelligibility, and pure tone thresholds were compared between the syndromic and non-syndromic group. RESULTS: A total of 25 subjects (13 syndromic and 12 non-syndromic) participated in the study. Neither auditory ability nor speech intelligibility scores differed significantly by group. The final PTA of both the groups showed normal-to-mild hearing loss: 26 dB HL in the syndromic group and 23 dB HL for the control group. CONCLUSIONS: Cochlear implant recipients with genetic syndromes achieved similar levels auditory perception and speech intelligibility as their peers with a genetic syndrome. The presence of any of the genetic syndromes described herein should not be a contraindication to cochlear implant provision, as it would have a positive impact on the patients' sensory perception and lifestyle.

Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.

CONCLUSION: Most of the cases with gene mutations of intra-cochlear etiology showed relatively good CI outcomes. To progress toward more solid evidence-based CI intervention, a greater number of reports including CI outcomes for specific gene mutations are desired. BACKGROUND: Cochlear implantation (CI) is the most important and effective treatment for patients with profound sensorineural hearing loss. However, the outcomes of CI vary among patients. One of the reasons of this heterogeneous outcome for cochlear implantation is thought to be the heterogeneous nature of hearing loss. Indeed, genetic factors, the most common etiology in severe-to-profound hearing loss, might be one of the key determinants of outcomes for CI and electric acoustic stimulation (EAS). Patients with genetic causes involving an 'intra-cochlear' etiology show good CI/EAS outcomes. REVIEW: This review article aimed to summarize the reports on CI/EAS outcomes in patients with special genetic causes as well as to assist in future clinical decision-making. Most of the cases were suspected of an intra-cochlear etiology, such as those with GJB2, SLC26A4, and OTOF mutations, which showed relatively good CI outcomes. However, there have only been a limited number of reports on patients with other gene mutations.

Usher syndrome: characteristics and outcomes of pediatric cochlear implant recipients.

OBJECTIVE: To evaluate the characteristics and outcomes of pediatric cochlear implant recipients diagnosed with Usher syndrome (US). STUDY DESIGN: Retrospective study of consecutive pediatric cochlear implant recipients (1991-2010). SETTING: Tertiary care children's hospital. PATIENTS: Children who received a cochlear implant who were diagnosed with US either before or after implantation. MAIN OUTCOME MEASURES: Electroretinography and ophthalmologic findings, cochlear anatomy based on preoperative imaging, age of independent ambulation, age at implantation, speech perception level, and communication method. RESULTS: Approximately 26 (3.7%) of 712 cochlear implant recipients were diagnosed with US based on the results of electroretinography and/or genetic testing. Preoperative imaging revealed no evidence of cochlear malformations. Average age of independent ambulation was 21.9 months (range, 12-30). Average age at implantation was 3.3 years (range, 6 mo to 11.6 yr). Mean follow-up after implantation was 7.8 years (range, 10 mo to 15.6 yr). Open-set speech perception was present in 92% of children, with use of a primarily oral communication mode in 69.2%. CONCLUSION: In this large series of patients with the diagnosis of US who have undergone cochlear implantation, CT and MRI imaging were normal. Significant delay in independent ambulation was present in this population secondary to abnormal vestibular function associated with US Type I. A majority of children developed significant open-set speech perception and oral communication skills. Implantation of US children provides them with the opportunity to develop useful hearing and oral communication.

Cochlear implantation in unique pediatric populations.

PURPOSE OF REVIEW: Over the last decade, the selection criteria for cochlear implantation have expanded to include children with special auditory, otologic, and medical problems. Included within this expanded group of candidates are those children with auditory neuropathy spectrum disorder, cochleovestibular malformations, cochlear nerve deficiency, associated syndromes, as well as multiple medical and developmental disorders. Definitive indications for cochlear implantation in these unique pediatric populations are in evolution. This review will provide an overview of managing and habilitating hearing loss within these populations with specific focus on cochlear implantation as a treatment option. RECENT FINDINGS: Cochlear implants have been successfully implanted in children within unique populations with variable results. Evaluation for cochlear implant candidacy includes the core components of a full medical, audiologic, and speech and language evaluations. When considering candidacy in these children, additional aspects to consider include disorder-specific surgical considerations and child/caregiver counseling regarding reasonable postimplantation outcome expectations. SUMMARY: Cochlear implants are accepted as the standard of care for improving hearing and speech development in children with severe-to-profound hearing loss. However, children with sensorineural hearing loss who meet established audiologic criteria for cochlear implantation may have unique audiologic, medical, and anatomic characteristics that necessitate special consideration regarding cochlear implantation candidacy and outcome. Individualized preoperative candidacy and counseling, surgical evaluation, and reasonable postoperative outcome expectations should be taken into account in the management of these children.

Cognitive skills in children with Usher syndrome type 1 and cochlear implants.

INTRODUCTION: Usher syndrome is a genetic condition causing deaf-blindness and is one of the most common causes of syndromic deafness. Individuals with USH1 in Sweden born during the last 15 years have typically received cochlear implants (CI) as treatment for their congenital, profound hearing loss. Recent research in genetics indicates that the cause of deafness in individuals with Usher type 1 (USH1) could be beneficial for the outcome with cochlear implants (CI). This population has not previously been the focus of cognitive research. OBJECTIVE: The present study aims to examine the phonological and lexical skills and working memory capacity (WMC) in children with USH1 and CI and to compare their performance with children with NH, children with hearing-impairment using hearing-aids and to children with non-USH1 deafness using CI. The participants were 7 children aged 7-16 years with USH1 and CI. METHODS: The participants performed 10 sets of tasks measuring phonological and lexical skills and working memory capacity. CONCLUSIONS: The results indicate that children with USH1 and CI as a group in general have a similar level of performance on the cognitive tasks as children with hearing impairment and hearing aids. The group with USH1 and CI has a different performance profile on the tests of working memory, phonological skill and lexical skill than children with non-USH1 deafness using CI, on tasks of phonological working memory and phonological skill.

Cell transplantation to arrest early changes in an ush2a animal model.

Purpose. Usher's syndrome is a combined deafness and blindness disorder caused by mutations in several genes with functions in both the retina and the ear. Here the authors studied morphologic and functional changes in an animal model, the Ush2a mouse, and explored whether transplantation of forebrain-derived progenitor cells might affect the progress of morphologic and functional deterioration. Methods. Ush2a mice were tested at postnatal days (P) 70 to P727 using an optomotor test, which provides a repeatable method of estimating rodent visual acuity and contrast sensitivity. A group of mice that received grafts of forebrain-derived progenitor cells at P80 was tested for up to 10 weeks after grafting. At the end of testing, animals were killed, and eyes were processed for histology. Results. The optomotor test showed that both acuity and contrast sensitivity deteriorated over time; contrast sensitivity showed a deficit even at P70. By contrast, photoreceptor loss was only evident later than 1 year of age, though changes in the intracellular distribution of red/green cone opsin were observed as early as P80. Mice that received transplanted cells performed significantly better than control mice and no longer demonstrated abnormal distribution of red/green opsin where the donor cells were distributed. Conclusions. This study showed that vision impairment was detected well before significant photoreceptor loss and was correlated with abnormal distribution of a cone pigment. Cell transplantation prevented functional deterioration for at least 10 weeks and reversed the mislocalization of cone pigment.

[Usher type I syndrome in children: genotype/phenotype correlation and cochlear implant benefits]. / Syndrome de Usher de type I chez l'enfant: corrlation génotype/phénotype et bénéfice de l'implant cochléaire.

OBJECTIVE: To assess the benefit of cochlear implant in children presenting an Usher type 1 syndrome (speech understanding, speech production intelligibility, academic performance) and to search any correlation between the phenotype and the genotype in this population. MATERIALS AND METHODS: Retrospective case series analysis about 13 implanted Usher type I children. Cochlear implantation was performed from 1995 to 2005. Our population was divided in three groups: group 1 (implantation between 1 and 3 years of age); group 2 (implantation between 4 and 7 years of age) and group 3 (implantation between 14 and 17 years of age). Postoperative speech perception, speech production intelligibility and education settings were evaluated. RESULTS: Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases; mutation in cadherin 23 gene in 6 cases). Four new mutations 2 in the MYO7A gene and 2 in the CDH23 gene never reported before were found. Walking delay and hearing level were not statistically correlated with the genotype abnormalities found. The speech discrimination skills, the speech production intelligibility and the academic performance were better in the group 1 children than the group 2 children after cochlear implantation. All the children of group 1 but one were in mainstreaming education. Specific language impairment was identified in two children of group 1. The group 3 children could not achieve open-set perceptive tasks after implantation--only closed-set word test can be done and their speech production remained unintelligible after cochlear implantation. CONCLUSION: Molecular analysis of Usher type I syndrome can ascertain the diagnosis in spite of the genetic heterogeneity. In this study, clinical symptoms weren't correlated with genotypic mutations. Speech discrimination skills, speech production quality, and academic performance were correlated with the age at implant.

Audiologic performance and benefit of cochlear implantation in Usher syndrome type I.

OBJECTIVE: The objective of this retrospective study was to evaluate the benefit and performance of cochlear implantation in patients with Usher syndrome type 1 (USH1). METHODS: Fourteen patients with a clinical diagnosis of USH1 were included. Mutation analysis of USH1 genes was performed in all of them. All patients filled in the G(C)BI questionnaire, which measures the benefit of implantation. In addition, equivalent hearing level scores (EHL) were calculated to measure performance. Correlations between the mentioned parameters were studied. RESULTS: One or two pathogenic mutations were identified in seven of the 14 examined patients. Similar to previous studies, it was demonstrated that implantation at an earlier age results in better performance than implantation at higher age. Cochlear implantation performed within the first 2 decades of life was beneficial to 13 of 14 (93%) of the patients with USH1. Finally, the EHL score and the G(C)BI score showed a significant correlation; the benefit of implantation increases with a decreasing EHL score. CONCLUSIONS: Cochlear implantation in patients with USH1 improves the audiologic performance when patients are implanted at an earlier age and is beneficial according to the G(C)BI when performed within the first 2 decades of life.

Quality of life and cochlear implantation in Usher syndrome type I.

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.