Hearing loss in fabry disease: A 16 year follow-up study of the Danish nationwide cohort.

Background: Fabry disease (FD) is a lysosomal storage disorder resulting in systemic accumulation of globotriaosylceramide (Gb3) causing multi-organ dysfunction. The audiologic involvement in FD has been neglected in previous studies; while not a lethal aspect of the disease, hearing loss can have a significantly negative impact on quality of life. Objective: To investigate hearing loss from baseline through 16 years follow-up of the Danish FD cohort and to compare audiometric data to other clinical variables. Methods: Data was collected prospectively and assessed retrospectively during a period of 16 years from 83 patients (age: 9-72 years; sex: 29 males and 54 females). 55 patients underwent treatment. Air conduction thresholds was assessed at six frequencies between 0.25 and 8 kHz bilaterally. Data was analyzed using multilinear models. Results: Mean follow-up period for patients undergoing a FD specific treatment was 7.8 years (0-12.8 years, SD 3.8 years, n = 55). Hearing thresholds for FD patients deviated from healthy individuals at all frequencies for both sexes (p < 0.001). Males had more profound hearing loss than females at high frequencies (4,8 kHz) (p = 0.025). There was no improvement in hearing with treatment (p = 0.343♂, p = 0.256♀). No associations between hearing loss and measured glomerular filtration rate, left ventricular wall thickness or cerebral white matter lesions were found. Lower plasma Gb3 concentration correlated with better hearing (p = 0.046) in males. Conclusion: Our findings demonstrated significant hearing loss in FD patients compared to audiologically healthy individuals at all frequencies, and no change in hearing during treatment. Lower plasma Gb3 concentrations correlated with better hearing in males.

Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment.

BACKGROUND: Fabry disease (FD) is a lysosomal storage disorder resulting in systemic accumulation of globotriaosylceramide resulting in multi-organ dysfunction e.g. cerebral, cardiac, renal and audiologic complications. The audiologic involvement in FD has often been neglected; while not a lethal aspect of the disease, hearing loss can have a significantly negative impact on quality of life. OBJECTIVES: To investigate baseline hearing status of the Danish Fabry cohort prior to treatment, compared to sex- and age-expected hearing levels and correlating hearing to renal and cerebral findings. MATERIAL AND METHODS: Retrospective study of baseline hearing status of the Danish Fabry cohort (n = 83, 9-72 years). Air conduction and speech discrimination scores were assessed at 6 frequencies between 0.25-8 kHz bilaterally. Data were collected between 2001-2014 and compiled in STATA using multilinear mixed modelling for statistical evaluation. RESULTS: Hearing thresholds at all frequencies deviated from the expected thresholds of an otologically normal cohort (p<0.001) and ranged 0.5 to 1.5 standard deviations below expected values. In total 29 males and 54 females were included. Hearing loss was more pronounced in the higher frequencies. There was a trend of association between hearing loss and measured glomerular filtration rate (mGFR) (p = 0.084). No association was present between hearing loss and albuminuria (p = 0.90), Fabry related cerebral abnormalities (p = 0.84) and cardiac left ventricular mass index, (LVMi) (p = 0.67) independent of sex. Hearing thresholds were poorer for men compared to women (p = 0.001). Sex differences were present at 0.25, 4 and 8 kHz. CONCLUSION: Our findings demonstrated significant hearing loss in Danish FD patients before treatment initiation, being more profound than in otologically healthy individuals at all frequencies. Additionally, we observed no association between hearing loss and LVMi, albuminuria or FD cerebral abnormalities, with a trend of association to mGFR. SYNOPSIS: Patients with Fabrys disease have hearing loss of all frequencies and most prominently at high frequencies (4-8 kHz), with no association between the hearing loss and cerebral abnormalities, and cardiac mass but with a trend of association to measured glomerular filtration rate.

A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia.

INTRODUCTION: Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disease, which primarily manifests with oto-sino-pulmonary symptoms. Otitis media with effusion (OME) is common from early childhood. The existing literature on OME management in PCD is conflicting. The goals of the present study were firstly to evaluate the long-term hearing in PCD patients and secondly to determine the influence of ventilation tube (VT) insertion on hearing and postoperative otorrhoea. METHODS: A longitudinal retrospective study extracting the hearing level (pure tone average (0.5, 1, 2, 4 kHz, PTA)) and tympanometry from the medical records. Furthermore, the patient files were reviewed for VT insertion and postoperative otorrhoea. Postoperative otorrhoea was defined prolonged when it lasted for four weeks or longer. RESULTS: Fifty-seven patients were identified in a 30-year period, age 2-72 years, and 278 audiometries were evaluated. The median number of audiometries per patient was 3 (range 1-29) and the median follow-up was 60 months (range 0-351 months). The mean PTA was 34 dB HL in patients below six years of age and improved significantly (p < 0.0001) with age. VT insertion improved hearing; however, 48% of patients with VT insertion experienced prolonged otorrhoea. CONCLUSION: In this study of PCD patients the hearing improved as a function of age as well as following VT insertion. However, VT insertion was also associated with prolonged otorrhoea.

Prediction of IOI-HA scores using speech reception thresholds and speech discrimination scores in quiet.

BACKGROUND: Outcome measures can be used to improve the quality of the rehabilitation by identifying and understanding which variables influence the outcome. This information can be used to improve outcomes for clients. In clinical practice, pure-tone audiometry, speech reception thresholds (SRTs), and speech discrimination scores (SDSs) in quiet or in noise are common assessments made prior to hearing aid (HA) fittings. It is not known whether SRT and SDS in quiet relate to HA outcome measured with the International Outcome Inventory for Hearing Aids (IOI-HA). PURPOSE: The aim of the present study was to investigate the relationship between pure-tone average (PTA), SRT, and SDS in quiet and IOI-HA in both first-time and experienced HA users. RESEARCH DESIGN: SRT and SDS were measured in a sample of HA users who also responded to the IOI-HA. STUDY SAMPLE: Fifty-eight Danish-speaking adult HA users. DATA COLLECTION AND ANALYSIS: The psychometric properties were evaluated and compared to previous studies using the IOI-HA. The associations and differences between the outcome scores and a number of descriptive variables (age, gender, fitted monaurally/binaurally with HA, first-time/experienced HA users, years of HA use, time since last HA fitting, best ear PTA, best ear SRT, or best ear SDS) were examined. A multiple forward stepwise regression analysis was conducted using scores on the separate IOI-HA items, the global score, and scores on the introspection and interaction subscales as dependent variables to examine whether the descriptive variables could predict these outcome measures. RESULTS: Scores on single IOI-HA items, the global score, and scores on the introspection (items 1, 2, 4, and 7) and interaction (items 3, 5, and 6) subscales closely resemble those previously reported. Multiple regression analysis showed that the best ear SDS predicts about 18-19% of the outcome on items 3 and 5 separately, and about 16% on the interaction subscale (sum of items 3, 5, and 6) CONCLUSIONS: The best ears SDS explains some of the variance displayed in the IOI-HA global score and the interaction subscale. The relation between SDS and IOI-HA suggests that a poor unaided SDS might in itself be a limiting factor for the HA rehabilitation efficacy and hence the IOI-HA outcome. The clinician could use this information to align the user's HA expectations to what is within possible reach.

Acceptable noise level (ANL) with Danish and non-semantic speech materials in adult hearing-aid users.

OBJECTIVE: The acceptable noise level (ANL) test is used for quantification of the amount of background noise subjects accept when listening to speech. This study investigates Danish hearing-aid users' ANL performance using Danish and non-semantic speech signals, the repeatability of ANL, and the association between ANL and outcome of the international outcome inventory for hearing aids (IOI-HA). DESIGN: ANL was measured in three conditions in both ears at two test sessions. Subjects completed the IOI-HA and the ANL questionnaire. STUDY SAMPLE: Sixty-three Danish hearing-aid users; fifty-seven subjects were full time users and 6 were part time/non users of hearing aids according to the ANL questionnaire. RESULTS: ANLs were similar to results with American English speech material. The coefficient of repeatability (CR) was 6.5-8.8 dB. IOI-HA scores were not associated to ANL. CONCLUSIONS: Danish and non-semantic ANL versions yield results similar to the American English version. The magnitude of the CR indicates that ANL with Danish and non-semantic speech materials is not suitable for prediction of individual patterns of future hearing-aid use or evaluation of individual benefit from hearing-aid features. The ANL with Danish and non-semantic speech materials is not related to IOI-HA outcome.

Acceptable noise level: repeatability with Danish and non-semantic speech materials for adults with normal hearing.

OBJECTIVE: The acceptable noise level (ANL) is used to quantify the amount of background noise that subjects can accept while listening to speech, and is suggested for prediction of individual hearing-aid use. The aim of this study was to assess the repeatability of the ANL measured in normal-hearing subjects using running Danish and non-semantic speech materials as stimuli and modulated speech-spectrum and multi-talker babble noises as competing stimuli. DESIGN: ANL was measured in both ears at two test sessions separated by a period ranging from 12 to 77 days. At each session the measurements at the first and the second ear were separated in time by 15-30 minutes. Bland-Altman plots and calculation of the coefficient of repeatability (CR) were used to estimate the repeatability. STUDY SAMPLE: Thirty nine normal-hearing subjects. RESULTS: The ANL CR was 6.0-8.9 dB for repeated tests separated by about 15-30 minutes and 7.2-10.2 dB for repeated tests separated by 12 days or more. CONCLUSIONS: The ANL test has poor repeatability when assessed with Danish and non-semantic speech materials on normal-hearing subjects. The same CR among hearing-impaired subjects would imply too poor repeatability to predict individual patterns of future hearing-aid use.

Evaluation of long-term patient satisfaction and experience with the Baha® bone conduction implant.

OBJECTIVE: Evaluate long-term patient satisfaction with bone-anchored hearing aids (the Baha®, now referred to by Cochlear as a 'bone conduction implant') in our hospital clinic spanning the eighteen-year period from the inception of our Baha program. The researchers further wished to analyse the various factors leading to patient satisfaction/dissatisfaction with their Baha. We developed a new questionnaire to obtain a comprehensive impression of individual patient practices, general satisfaction, and experiences with their Baha in respect to time spent using Baha, sound quality, annoyance from noise disturbance, ease of communication, cosmetic appearance, and satisfaction with the Baha amongst patient relatives, an aspect not previously investigated. DESIGN: The study design was retrospective and executed as a postal questionnaire. The questionnaire was developed by the authors of this paper. STUDY SAMPLE: Patients operated on for a Baha at our hospital from 1989 to 2007. RESULTS: The response rate was 92.4%. Eighty-six percent were satisfied or very satisfied with their Baha. Ninety-one percent of respondents could communicate using their Baha in a one-on-one conversational setting. A primary factor leading to dissatisfaction, experienced by 70% of responding patients, was annoyance from wind noise. CONCLUSIONS: Baha was found to yield good overall patient satisfaction over the long-term, and it was possible to identify specific factors attributing to satisfaction/dissatisfaction.

Acceptable noise level with Danish, Swedish, and non-semantic speech materials.

OBJECTIVE: Acceptable noise level (ANL) has been established as a method to quantify the acceptance of background noise while listening to speech presented at the most comfortable level. The aim of the present study was to generate Danish, Swedish, and a non-semantic version of the ANL test and investigate normal-hearing Danish and Swedish subjects' performance on these tests. DESIGN: ANL was measured using Danish and Swedish running speech with two different noises: Speech-weighted amplitude-modulated noise, and multitalker speech babble. ANL was also measured using the non-semantic international speech test signal (ISTS) as speech signal together with the speech-weighted amplitude-modulated noise. The latter condition was identical in both populations. STUDY SAMPLE: Forty Danish and 40 Swedish normal-hearing subjects. RESULTS: In both populations ANL results were similar to previously reported results from American studies. Generally, significant differences were seen between test conditions using different types of noise within ears in each population. Significant differences were seen for ANL across populations, also when the non-semantic ISTS was used as speech signal. CONCLUSIONS: The present findings indicate that there are extrinsic factors, such as instructions, affecting the ANL results.

Comparison of two bone anchored hearing instruments: BP100 and Ponto Pro.

OBJECTIVE: This study aimed at investigating if there were differences in auditory performance, operation, or user preference between the Ponto Pro or the BP100, two bone anchored hearing instruments (BAHI) with modern sound processing technology. DESIGN: Subjects wore the devices in daily life in a crossover study for periods ranging from 25 to 63 days. A speech-in-noise test was carried out as well as measures of noise reduction and feedback suppression algorithms. User satisfaction was reported using the NSH and the GHABP questionnaires. At the end of the test, subjects selected one of the devices for permanent use. STUDY SAMPLE: Twelve first-time users of BAHIs. RESULTS: Eight subjects selected the Ponto Pro; four selected the BP100. The Ponto Pro was rated as easier to operate than the BP100, the visual appearance of the Ponto Pro was rated as nicer than that of the BP100, and speech understanding was rated higher with the Ponto Pro than with the BP100. Speech-in-noise tests showed improvements using directional microphones with the Ponto Pro. CONCLUSIONS: 67% of the subjects opted for permanent use of the Ponto Pro, which, compared to the BP100, was rated to have a nicer look, to be easier to operate, and to yield better speech intelligibility.

Follow-up of 5- to 11-year-old children treated for persistent pulmonary hypertension of the newborn.

AIM: Determine the prevalence of sensorineural hearing loss (SNHL) and relate this to cumulative exposure to hypoxia, hypocapnia and hypotension. Describe chronic health problems among 5- to 11-year-old children treated for persistent pulmonary hypertension of the newborn (PPHN). METHODS: The index group consisted of 85 children and a reference group was matched for age, sex and municipality of current residence. Questionnaires were sent to the families. The families in the index group were asked to participate in an examination of their child's hearing. RESULTS: Seven children (11%) had SNHL. SNHL was not associated with hypoxia, hypocapnia or hypotension during treatment for PPHN. In the index group chronic health problems were reported in 42% compared with 17% in the reference group (chi-square test, p = 0.001). Twenty-one percent in the index group were treated with bronchodilator therapy compared with 8% in the reference group (chi-square test, p = 0.028). In the index group five children had cerebral palsy and two had developmental delay. Nineteen percent in the index group and 5% in the reference group had remedial education (chi-square test, p = 0.008). CONCLUSION: Children treated for PPHN are at high risk for SNHL. Exposure to hypoxia, hypocapnia or hypotension did not predict SNHL. The incidence of chronic health problems and use of remedial education was high.