Living with type I Usher syndrome: insights from patients and their parents.

BACKGROUND: Type 1 Usher syndrome (USH1) is a rare disease and major cause of genetic deaf-blindness. Deafness is present from birth while retinitis pigmentosa (RP) which typically presents during childhood is progressive leading to blindness. The aim of this research was to develop a disease model describing USH1 symptoms and their impact on patients' lives. MATERIALS AND METHODS: Qualitative interviews were conducted with patients (pediatric and adult) and parents of children and adolescents with USH1. Interviewed subjects were enrolled through ophthalmologists from specialized eye centers in the USA and in France. Trained interviewers used semi-structured techniques to elicit concepts relevant to patients and their parents. Thematic analysis of interview transcripts led to the identification of concepts which were organized to generate a disease model. RESULTS: A total of 18 patients (7 in the US; 11 in France)- 9 adults, 4 adolescents, and 5 children- and 9 mothers were interviewed. The most cited ocular symptoms were difficulty seeing at night and loss of peripheral vision. Interviewees reported limitations on Physical (e.g. difficulty moving), Mental (e.g. fear about falling), Social (e.g. difficulty discussing disease with others) and Role (e.g. difficulties at school/work) functioning. These impacts were, when possible, mitigated by coping strategies and support (e.g. using electronic devices, having a positive/proactive attitude). CONCLUSIONS: This research provides an overview of symptoms experienced by patients with USH1 and highlights the dramatic impact these have on patients' lives, allowing the identification of concepts of importance when evaluating therapeutic treatments in development for RP.

The first deaf-blind patient in Russia with Argus II retinal prosthesis system: what he sees and why.

OBJECTIVE: In this study, we propose a new method for evaluating the functional results based on the sizes of phosphenes that the patient drew which were then digitalized. We also describe the methodology of psychological testing and support for a deaf-blind patient. APPROACH: A 59-year-old man with retinitis pigmentosa and hearing loss (clinical Usher syndrome) underwent surgery to implant the Argus II retinal prosthesis system in his right eye. MAIN RESULTS: Correlation analysis showed a weak dependency between the size of a phosphene and the perceptual threshold. Significant correlations between a phosphene and the height of the interface, impedance or retinal thickness was not found. The patient with the retinal prosthesis felt more independent and confident, and more healthy. This is the first case of retinal implant surgery in Russia. SIGNIFICANCE: The results of this study add to the understanding in the field of retinal implants functioning. The experience of the successful rehabilitation of the deaf-blind patient after implantation of Argus II allowed us to design a methodology that can be used in future similar cases.

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.

Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life.

OBJECTIVES: Usher syndrome type IIa (USH2a) is characterized by congenital moderate to severe hearing impairment and retinitis pigmentosa. Hearing rehabilitation starts in early childhood with the application of hearing aids. In some patients with USH2a, severe progression of hearing impairment leads to insufficient speech intelligibility with hearing aids and issues with adequate communication and safety. Cochlear implantation (CI) is the next step in rehabilitation of such patients. This study evaluates the performance and benefit of CI in patients with USH2a. DESIGN: Retrospective case-control study to evaluate the performance and benefit of CI in 16 postlingually deaf adults (eight patients with USH2a and eight matched controls). Performance and benefit were evaluated by a speech intelligibility test and three quality-of-life questionnaires. RESULTS: Patients with USH2a with a mean age of 59 years at implantation exhibited good performance after CI. The phoneme scores improved significantly from 41 to 87% in patients with USH2a (p = 0.02) and from 30 to 86% in the control group (p = 0.001). The results of the questionnaire survey demonstrated a clear benefit from CI. There were no differences in performance or benefit between patients with USH2a and control patients before and after CI. CONCLUSIONS: CI increases speech intelligibility and improves quality of life in patients with USH2a.

Simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome.

OBJECTIVE: To report a rare case of simultaneous bilateral cochlear implantation in a five-month-old child with Usher syndrome. METHOD: Case report. RESULTS: A five-month-old boy with Usher syndrome and congenital profound bilateral deafness underwent simultaneous bilateral cochlear implantation. The decision to perform implantation in such a young child was based on his having a supportive family and the desire to foster his audiological development before his vision deteriorated. The subject experienced easily resolvable intra- and post-operative adverse events, and was first fitted with an externally worn audio processor four weeks after implantation. At 14 months of age, his audiological development was age-appropriate. CONCLUSION: Simultaneous bilateral cochlear implantation is possible, and even advisable, in children as young as five months old when performed by an experienced implantation team.

Monitor, a vibrotactile aid for environmental perception: a field evaluation by four people with severe hearing and vision impairment.

Monitor is a portable vibrotactile aid to improve the ability of people with severe hearing impairment or deafblindness to detect, identify, and recognize the direction of sound-producing events. It transforms and adapts sounds to the frequency sensitivity range of the skin. The aid was evaluated in the field. Four females (44-54 years) with Usher Syndrome I (three with tunnel vision and one with only light perception) tested the aid at home and in traffic in three different field studies: without Monitor, with Monitor with an omnidirectional microphone, and with Monitor with a directional microphone. The tests were video-documented, and the two field studies with Monitor were initiated after five weeks of training. The detection scores with omnidirectional and directional microphones were 100% for three participants and above 57% for one, both in their home and traffic environments. In the home environment the identification scores with the omnidirectional microphone were 70%-97% and 58%-95% with the directional microphone. The corresponding values in traffic were 29%-100% and 65%-100%, respectively. Their direction perception was improved to some extent by both microphones. Monitor improved the ability of people with deafblindness to detect, identify, and recognize the direction of events producing sounds.

Sensory and demographic characteristics of deafblindness rehabilitation clients in Montréal, Canada.

PURPOSE: Demographic changes are increasing the number of older adults with combined age-related vision and hearing loss, while medical advances increase the survival probability of children with congenital dual (or multiple) impairments due to pre-maturity or rare hereditary diseases. Rehabilitation services for these populations are highly in demand since traditional uni-sensory rehabilitation approaches using the other sense to compensate are not always utilizable. Very little is currently known about the client population characteristics with dual sensory impairment. The present study provides information about demographic and sensory variables of persons in the Montreal region that were receiving rehabilitation for dual impairment in December 2010. This information can inform researchers, clinicians, educators, as well as administrators about potential research and service delivery priorities. METHOD: A chart review of all client files across the three rehabilitation agencies that offer integrated dual sensory rehabilitation services in Montreal provided data on visual acuity, visual field, hearing detection thresholds, and demographic variables. RESULTS: The 209 males and 355 females ranged in age from 4months to 105years (M=71.9, S.D.=24.6), indicating a prevalence estimate for dual sensory impairment at 15/100000. Only 5.7% were under 18years of age, while 69.1% were over the age of 65years, with 43.1% over the age of 85years. The diagnostic combination that accounted for 31% of the entire sample was age-related macular degeneration with presbycusis. Their visual and auditory measures indicated that older adults were likely to fall into moderate to severe levels of impairment on both measures. Individuals with Usher Syndrome comprised 20.9% (n=118) of the sample. CONCLUSION: The age distribution in this sample of persons with dual sensory impairment indicates that service delivery planning will need to strongly consider the growing presence of older adults as the baby-boomers approach retirement age. The distribution of their visual and auditory limits indicates that the large majority of this client group has residual vision and hearing that can be maximized in the rehabilitation process in order to restore functional abilities and social participation. Future research in this area should identify the specific priorities in both rehabilitation and research in individuals affected with combined vision and hearing loss.

Speech recognition and communication outcomes with cochlear implantation in Usher syndrome type 3.

BACKGROUND: Usher syndrome Type 3 (USH3) is an autosomal recessive disorder characterized by variable type and degree of progressive sensorineural hearing loss and retinitis pigmentosa. Cochlear implants are widely used among these patients. OBJECTIVES: To evaluate the results and benefits of cochlear implantation in patients with USH3. STUDY DESIGN: A nationwide multicenter retrospective review. MATERIALS AND METHODS: During the years 1995-2005, in 5 Finnish university hospitals, 19 patients with USH3 received a cochlear implant. Saliva samples were collected to verify the USH3 genotype. Patients answered to 3 questionnaires: Glasgow Benefit Inventory, Glasgow Health Status Inventory, and a self-made questionnaire. Audiological data were collected from patient records. RESULTS: All the patients with USH3 in the study were homozygous for the Finnish major mutation (p.Y176X). Either they had severe sensorineural hearing loss or they were profoundly deaf. The mean preoperative hearing level (pure-tone average, 0.5-4 kHz) was 110 ± 8 dB hearing loss (HL) and the mean aided hearing level was 58 ± 11 dB HL. The postoperative hearing level (34 ± 9 dB HL) and word recognition scores were significantly better than before surgery. According to the Glasgow Benefit Inventory scores and Glasgow Health Status Inventory data related to hearing, the cochlear implantation was beneficial to patients with USH3. CONCLUSION: Cochlear implantation is beneficial to patients with USH3, and patients learn to use the implant without assistance.

Speech perception for adult cochlear implant recipients in a realistic background noise: effectiveness of preprocessing strategies and external options for improving speech recognition in noise.

BACKGROUND: Although cochlear implant patients are achieving increasingly higher levels of performance, speech perception in noise continues to be problematic. The newest generations of implant speech processors are equipped with preprocessing and/or external accessories that are purported to improve listening in noise. Most speech perception measures in the clinical setting, however, do not provide a close approximation to real-world listening environments. PURPOSE: To assess speech perception for adult cochlear implant recipients in the presence of a realistic restaurant simulation generated by an eight-loudspeaker (R-SPACE) array in order to determine whether commercially available preprocessing strategies and/or external accessories yield improved sentence recognition in noise. RESEARCH DESIGN: Single-subject, repeated-measures design with two groups of participants: Advanced Bionics and Cochlear Corporation recipients. STUDY SAMPLE: Thirty-four subjects, ranging in age from 18 to 90 yr (mean 54.5 yr), participated in this prospective study. Fourteen subjects were Advanced Bionics recipients, and 20 subjects were Cochlear Corporation recipients. INTERVENTION: Speech reception thresholds (SRTs) in semidiffuse restaurant noise originating from an eight-loudspeaker array were assessed with the subjects' preferred listening programs as well as with the addition of either Beam preprocessing (Cochlear Corporation) or the T-Mic accessory option (Advanced Bionics). DATA COLLECTION AND ANALYSIS: In Experiment 1, adaptive SRTs with the Hearing in Noise Test sentences were obtained for all 34 subjects. For Cochlear Corporation recipients, SRTs were obtained with their preferred everyday listening program as well as with the addition of Focus preprocessing. For Advanced Bionics recipients, SRTs were obtained with the integrated behind-the-ear (BTE) mic as well as with the T-Mic. Statistical analysis using a repeated-measures analysis of variance (ANOVA) evaluated the effects of the preprocessing strategy or external accessory in reducing the SRT in noise. In addition, a standard t-test was run to evaluate effectiveness across manufacturer for improving the SRT in noise. In Experiment 2, 16 of the 20 Cochlear Corporation subjects were reassessed obtaining an SRT in noise using the manufacturer-suggested "Everyday," "Noise," and "Focus" preprocessing strategies. A repeated-measures ANOVA was employed to assess the effects of preprocessing. RESULTS: The primary findings were (i) both Noise and Focus preprocessing strategies (Cochlear Corporation) significantly improved the SRT in noise as compared to Everyday preprocessing, (ii) the T-Mic accessory option (Advanced Bionics) significantly improved the SRT as compared to the BTE mic, and (iii) Focus preprocessing and the T-Mic resulted in similar degrees of improvement that were not found to be significantly different from one another. CONCLUSION: Options available in current cochlear implant sound processors are able to significantly improve speech understanding in a realistic, semidiffuse noise with both Cochlear Corporation and Advanced Bionics systems. For Cochlear Corporation recipients, Focus preprocessing yields the best speech-recognition performance in a complex listening environment; however, it is recommended that Noise preprocessing be used as the new default for everyday listening environments to avoid the need for switching programs throughout the day. For Advanced Bionics recipients, the T-Mic offers significantly improved performance in noise and is recommended for everyday use in all listening environments.

The Usher lifestyle survey: maintaining independence: a multi-centre study.

Patients with Usher syndrome face a special set of challenges in order to maintain their independence when their sight and hearing worsen. Three different types of Usher (I, II and III) are distinguished by differences in onset, progression and severity of hearing loss, and by the presence or absence of balance problems. In this study 93 Usher patients from seven European countries filled out a questionnaire on maintaining independence (60 patients type I, 25 patients type II, four patients type III and four patients type unknown). Results of Usher type I and II patients are presented. Following the Nordic definition of maintaining independence in deaf-blindness, three domains are investigated: access to information, communication and mobility. Research variables in this study are: age and type of Usher, considered hearing loss- and the number of retinitis pigmentosa-related sight problems. Usher type I patients tend to need more help than Usher type II patients and the amount of help that they need grows when patients get older or when considered hearing loss worsens. No patterns in results were seen for the number of retinitis pigmentosa related sight problems.