Olfactory dysfunction is common in classical infratentorial superficial siderosis of the central nervous system.

BACKGROUND: Established features of classical infratentorial superficial siderosis (iSS) include hearing loss, impaired balance, myelopathy and, less commonly, cognitive compromise. Olfactory function may be affected but dedicated studies are lacking. This study aimed to assess the prevalence of olfactory dysfunction in iSS and correlate it with auditory and cognitive functions. METHODS: Ten participants with iSS completed the University of Pennsylvania Smell Identification Test (UPSIT). The scores were compared with population norms; regression analysis was performed to evaluate associations between the scores and hearing thresholds (3-frequency average, 3FA) or the number of cognitive domains impaired. Imaging was reviewed for haemosiderin distribution and to exclude other causes of olfactory and hearing dysfunction. RESULTS: Eight of ten participants were male; the mean (standard deviation, SD) age was 52.5 (14.5) years. Olfactory hypofunction was identified in all participants and in six (60%) was moderate or completely absent. The mean UPSIT score of 25.5 (7.8) was significantly worse than population norms (difference in means - 10.0; 95% CI - 15.6 to - 4.4). Linear regression identified an association between UPSIT and hearing thresholds (R = 0.75; p = 0.013). The score decreases by 0.157 units (95% CI - 0.31 to - 0.002; p = 0.048) per unit increase in 3FA, after adjusting for hearing loss risk factors. There was no statistically significant association between UPSIT and cognitive function (R = 0.383; p = 0.397). CONCLUSION: We report a high prevalence of olfactory dysfunction in iSS, the severity of which correlated with hearing loss. Olfaction appears to be a core feature of the iSS clinical syndrome that should be assessed routinely.

Vestibular rehabilitation in multiple sclerosis: study protocol for a randomised controlled trial and cost-effectiveness analysis comparing customised with booklet based vestibular rehabilitation for vestibulopathy and a 12 month observational cohort study of the symptom reduction and recurrence rate following treatment for benign paroxysmal positional vertigo.

BACKGROUND: Symptoms arising from vestibular system dysfunction are observed in 49-59% of people with Multiple Sclerosis (MS). Symptoms may include vertigo, dizziness and/or imbalance. These impact on functional ability, contribute to falls and significant health and social care costs. In people with MS, vestibular dysfunction can be due to peripheral pathology that may include Benign Paroxysmal Positional Vertigo (BPPV), as well as central or combined pathology. Vestibular symptoms may be treated with vestibular rehabilitation (VR), and with repositioning manoeuvres in the case of BPPV. However, there is a paucity of evidence about the rate and degree of symptom recovery with VR for people with MS and vestibulopathy. In addition, given the multiplicity of symptoms and underpinning vestibular pathologies often seen in people with MS, a customised VR approach may be more clinically appropriate and cost effective than generic booklet-based approaches. Likewise, BPPV should be identified and treated appropriately. METHODS/ DESIGN: People with MS and symptoms of vertigo, dizziness and/or imbalance will be screened for central and/or peripheral vestibulopathy and/or BPPV. Following consent, people with BPPV will be treated with re-positioning manoeuvres over 1-3 sessions and followed up at 6 and 12 months to assess for any re-occurrence of BPPV. People with central and/or peripheral vestibulopathy will be entered into a randomised controlled trial (RCT). Trial participants will be randomly allocated (1:1) to either a 12-week generic booklet-based home programme with telephone support or a 12-week VR programme consisting of customised treatment including 12 face-to-face sessions and a home exercise programme. Customised or booklet-based interventions will start 2 weeks after randomisation and all trial participants will be followed up 14 and 26 weeks from randomisation. The primary clinical outcome is the Dizziness Handicap Inventory at 26 weeks and the primary economic endpoint is quality-adjusted life-years. A range of secondary outcomes associated with vestibular function will be used. DISCUSSION: If customised VR is demonstrated to be clinically and cost-effective compared to generic booklet-based VR this will inform practice guidelines and the development of training packages for therapists in the diagnosis and treatment of vestibulopathy in people with MS. TRIAL REGISTRATION: ISRCTN Number: 27374299 Date of Registration 24/09/2018 Protocol Version 15 25/09/2019.

British children's performance on the listening in spatialised noise-sentences test (LISN-S).

Objective: To investigate whether British children's performance is equivalent to North American norms on the listening in spatialised noise-sentences test (LiSN-S). Design: Prospective study comparing the performance of a single British group of children to North-American norms on the LiSN-S (North American version). Study sample: The British group was composed of 46 typically developing children, aged 6-11 years 11 months, from a mainstream primary school in London. Results: No significant difference was observed between the British's group performance and the North-American norms for Low-cue, High-cue, Spatial Advantage and Total Advantage measure. The British group presented a significantly lower performance only for Talker Advantage measure (z-score: 0.35, 95% confidence interval -0.12 to -0.59). Age was significantly correlated with all unstandardised measures. Conclusion: Our results indicate that, when assessing British children, it would be appropriate to add a corrective factor of 0.35 to the z-score value obtained for the Talker Advantage in order to compare it to the North-American norms. This strategy would enable the use of LiSN-S in the UK to assess auditory stream segregation based on spatial cues.

Mining balance disorders' data for the development of diagnostic decision support systems.

In this work we present the methodology for the development of the EMBalance diagnostic Decision Support System (DSS) for balance disorders. Medical data from patients with balance disorders have been analysed using data mining techniques for the development of the diagnostic DSS. The proposed methodology uses various data, ranging from demographic characteristics to clinical examination, auditory and vestibular tests, in order to provide an accurate diagnosis. The system aims to provide decision support for general practitioners (GPs) and experts in the diagnosis of balance disorders as well as to provide recommendations for the appropriate information and data to be requested at each step of the diagnostic process. Detailed results are provided for the diagnosis of 12 balance disorders, both for GPs and experts. Overall, the reported accuracy ranges from 59.3 to 89.8% for GPs and from 74.3 to 92.1% for experts.

Effects of chronic noise exposure on speech-in-noise perception in the presence of normal audiometry.

OBJECTIVE: To assess auditory processing in noise-exposed subjects with normal audiograms and compare the findings with those of non-noise-exposed normal controls. METHODS: Ten noise-exposed Royal Air Force aircrew pilots were compared with 10 Royal Air Force administrators who had no history of noise exposure. Participants were matched in terms of age and sex. The subjects were assessed in terms of: pure tone audiometry, transient evoked otoacoustic emissions, suppression of transient evoked otoacoustic emissions in contralateral noise and auditory processing task performance (i.e. masking, frequency discrimination, auditory attention and speech-in-noise). RESULTS: All subjects had normal pure tone audiometry and transient evoked otoacoustic emissions amplitudes in both ears. The noise-exposed aircrew had similar pure tone audiometry thresholds to controls, but right ear transient evoked otoacoustic emissions were larger and speech-in-noise thresholds were elevated in the noise-exposed subjects compared to controls. CONCLUSION: The finding of poorer speech-in-noise perception may reflect noise-related impairment of auditory processing in retrocochlear pathways. Audiometry may not detect early, significant noise-induced hearing impairment.

Interactions between Stress and Vestibular Compensation - A Review.

Elevated levels of stress and anxiety often accompany vestibular dysfunction, while conversely complaints of dizziness and loss of balance are common in patients with panic and other anxiety disorders. The interactions between stress and vestibular function have been investigated both in animal models and in clinical studies. Evidence from animal studies indicates that vestibular symptoms are effective in activating the stress axis, and that the acute stress response is important in promoting compensatory synaptic and neuronal plasticity in the vestibular system and cerebellum. The role of stress in human vestibular disorders is complex, and definitive evidence is lacking. This article reviews the evidence from animal and clinical studies with a focus on the effects of stress on the central vestibular pathways and their role in the pathogenesis and management of human vestibular disorders.

The effect of virtual reality on visual vertigo symptoms in patients with peripheral vestibular dysfunction: a pilot study.

UNLABELLED: Individuals with vestibular dysfunction may experience visual vertigo (VV), in which symptoms are provoked or exacerbated by excessive or disorientating visual stimuli (e.g. supermarkets). VV can significantly improve when customized vestibular rehabilitation exercises are combined with exposure to optokinetic stimuli. Virtual reality (VR), which immerses patients in realistic, visually challenging environments, has also been suggested as an adjunct to VR to improve VV symptoms. This pilot study compared the responses of sixteen patients with unilateral peripheral vestibular disorder randomly allocated to a VR regime incorporating exposure to a static (Group S) or dynamic (Group D) VR environment. Participants practiced vestibular exercises, twice weekly for four weeks, inside a static (Group S) or dynamic (Group D) virtual crowded square environment, presented in an immersive projection theatre (IPT), and received a vestibular exercise program to practice on days not attending clinic. A third Group D1 completed both the static and dynamic VR training. Treatment response was assessed with the Dynamic Gait Index and questionnaires concerning symptom triggers and psychological state. At final assessment, significant between-group differences were noted between Groups D (p=0.001) and D1 (p=0.03) compared to Group S for VV symptoms with the former two showing a significant 59.2% and 25.8% improvement respectively compared to 1.6% for the latter. Depression scores improved only for Group S (p=0.01) while a trend towards significance was noted for Group D regarding anxiety scores (p=0.07). CONCLUSION: Exposure to dynamic VR environments should be considered as a useful adjunct to vestibular rehabilitation programs for patients with peripheral vestibular disorders and VV symptoms.

Effect of cochlear implant electrode insertion on middle-ear function as measured by intra-operative laser Doppler vibrometry.

HYPOTHESIS: The aim of this study was to investigate the impact of cochlear implant electrode insertion on middle-ear low frequency function in humans. BACKGROUND: Preservation of residual low frequency hearing with addition of electrical speech processing can improve the speech perception abilities and hearing in noise of cochlear implant users. Preservation of low frequency hearing requires an intact middle-ear conductive mechanism in addition to intact inner-ear mechanisms. Little is known about the effect of a cochlear implant electrode on middle-ear function. METHODS: Stapes displacement was measured in seven patients undergoing cochlear implantation. Measurements were carried out intra-operatively before and after electrode insertion. Each patient acted as his or her own control. Sound was delivered into the external auditory canal via a speaker and calibrated via a probe microphone. The speaker and probe microphone were integrated into an individually custom-made ear mould. Ossicular displacement in response to a multisine stimulus at 80 dB SPL was measured at the incudostapedial joint via the posterior tympanotomy, using an operating microscope mounted laser Doppler vibrometry system. RESULTS: Insertion of a cochlear implant electrode into the scala tympani had a variable effect on stapes displacement. In three patients, there was little change in stapes displacement following electrode insertion. In two patients, there was a significant increase, while in a further two there was a significant reduction in stapes displacement. This variability may reflect alteration of cochlear impedance, possibly due to differing loss of perilymph associated with the electrode insertion. CONCLUSION: Insertion of a cochlear implant electrode produces a change in stapes displacement at low frequencies, which may have an effect on residual low frequency hearing thresholds.

Auditory neuropathy in a patient exposed to xylene: case report.

OBJECTIVE: To report the case of an adult patient who developed auditory complaints following xylene exposure, and to review the literature on the effects of solvent exposure on hearing. CASE REPORT: The patient presented with a gradual deterioration in his ability to hear in difficult acoustic environments and also to hear complex sounds such as music, over a 40-year period. His symptoms began following exposure to the solvent xylene, and in the absence of any other risk factor. Our audiological investigations revealed normal otoacoustic emissions with absent auditory brainstem responses and absent acoustic reflexes in both ears, consistent with a diagnosis of bilateral auditory neuropathy. Central test results were also abnormal, indicating possible involvement of the central auditory pathway. CONCLUSIONS: To our knowledge, this is the first report of retrocochlear hearing loss following xylene exposure. The test results may provide some insight into the effect of xylene as an isolated agent on the human auditory pathway.

Auditory temporal processing deficits in patients with insular stroke.

OBJECTIVE: To assess central auditory function in a series of patients with stroke of the insula and adjacent areas. METHODS: The authors recruited eight patients with stroke affecting the insula and adjacent areas and eight neurologically normal controls (matched to the patients for age, sex, handedness, and hearing thresholds). The lesion spared the adjacent auditory areas in three patients and included other auditory structures in five cases. The authors conducted pure-tone audiometry and tympanometry and a central auditory test battery, which included the dichotic digits, and three temporal tests, the duration pattern, frequency pattern, and gaps in noise tests. They collected information from the hospital notes on symptoms at presentation and neuropsychological assessment data during the acute phase. RESULTS: The central auditory tests gave normal results in all controls. The temporal tests gave abnormal results in all three cases in which other auditory areas were spared, as well as in the other five cases. Results of the gaps in noise test were abnormal contralaterally to the lesion in three and bilaterally in five cases. The central auditory deficits did not cosegregate with the presence of cognitive impairment during the acute stage. CONCLUSION: Insular lesions may affect central auditory function and, in particular, temporal resolution and sequencing, consistent with neuroimaging studies.

Evidence for a neurophysiologic auditory deficit in children with benign epilepsy with centro-temporal spikes.

Benign focal epilepsy in childhood with centro-temporal spikes (BECTS) is one of the most common forms of epilepsy. Recent studies have questioned the benign nature of BECTS, as they have revealed neuropsychological deficits in many domains including language. The aim of this study was to investigate whether the epileptic discharges during the night have long-term effects on auditory processing, as reflected on electrophysiological measures, during the day, which could underline the language deficits. In order to address these questions we recorded base line electroencephalograms (EEG), sleep EEG and auditory event related potentials in 12 children with BECTS and in age- and gender-matched controls. In the children with BECTS, 5 had unilateral and 3 had bilateral spikes. In the 5 patients with unilateral spikes present during sleep, an asymmetry of the auditory event related component (P85-120) was observed contralateral to the side of epileptiform activity compared to the normal symmetrical vertex distribution that was noted in all controls and in 3 the children with bilateral spikes. In all patients the peak to peak amplitude of this event related potential component was statistically greater compared to the controls. Analysis of subtraction waveforms (deviant - standard) revealed no evidence of a mismatch negativity component in any of the children with BECTS. We propose that the abnormality of P85-120 and the absence of mismatch negativity during wake recordings in this group may arise in response to the long-term effects of spikes occurring during sleep, resulting in disruption of the evolution and maintenance of echoic memory traces. These results may indicate that patients with BECTS have abnormal processing of auditory information at a sensory level ipsilateral to the hemisphere evoking spikes during sleep.

Management of hearing loss in Apert syndrome.

BACKGROUND: Apert syndrome is one of the craniosynostosis syndromes, with a birth prevalence estimated to be between 9.9 and 15.5/million, and accounts for 4.5 per cent of craniosynostoses. Although conductive hearing loss is common in Apert syndrome there are contradicting reports regarding the cause of this hearing loss. There is also no detailed information available on the management of hearing loss in Apert syndrome. MATERIALS AND METHODS: A retrospective analysis of case notes of Apert syndrome patients seen between 1970 and 2003 at Great Ormond Street Children's Hospital, London, was undertaken. RESULTS: Seventy case notes were obtained. The incidence of congenital hearing impairment was between 3 and 6 per cent. Almost all patients had otitis media with effusion (glue ear), which tended to persist into adult life. More than 56 per cent of cases developed permanent conductive hearing loss by 10-20 years. Repeated grommet insertion was common; even though 35 per cent had trouble with ear discharge and persistent conductive hearing loss. Statistically, grommets made no difference to the risk of developing permanent hearing loss. CONCLUSION: This study, of the largest number of Apert syndrome cases assembled to date, showed that early optimization of hearing with possible hearing aids needs to be considered. Repeated grommet insertion does not help in optimizing hearing, especially if ear discharge complicates the picture.

Audiological profile in Apert syndrome.

Apert syndrome is one of the craniosynostosis syndromes and is commonly associated with conductive hearing loss, but there are contradicting reports regarding the cause. Retrospective analysis of case notes of Apert syndrome patients seen between 1970 and 2003 was therefore undertaken. Seventy case notes were obtained; 59% were males. The incidence of congenital hearing impairment was 3-6%. Almost all had otitis media with effusion, which tends to persist into adulthood. More than 56% developed permanent low frequency conductive hearing loss by 10-20 years of age.

Benign paroxysmal positional vertigo: clinical characteristics of dizzy patients referred to a Falls and Syncope Unit.

BACKGROUND: Dizziness is a common symptom in older people that affects quality of life and increases the risk of falls. Benign paroxysmal positional vertigo (BPPV) is a common cause of dizziness that increases in prevalence with age, and is potentially curable. AIM: To compare patients with BPPV referred initially to a Falls and Syncope Unit (FSS group) with those initially referred to a Regional ENT/Balance Service (ENT group). DESIGN: Retrospective case-note review. METHODS: Medical notes, investigations and outcomes were reviewed for all patients. RESULTS: Of 59 patients with BPPV confirmed by Dix-Hallpike test, 31 (53%) were initially referred to the FSS (2.6 patients per month, 71% females) and 28 (47%) were initially referred to ENT (4.7 patients per month, 86% females). Compared to those referred initially to ENT, FSS patients were significantly older (mean +/- SD 69 +/- 13 vs. 55.4 +/- 13 years, p = 0.0003) and had dizzy symptoms for longer before diagnosis (median (range) 12 (4-120) vs. 6 (1-36) months, p = 0.0273). FSS patients were more likely to have more than one type of dizziness (16% vs. 0%, p = 0.001), more likely to have cerebrovascular or cardiovascular co-morbidity (13% vs. 4%, p = 0.0152) and were taking significantly more medications (3.2 vs. 1.7; p = 0.0271). Cure rates on intervention were similar (83% FSS, 86% ENT). DISCUSSION: BPPV is a potentially curable cause for dizziness in older people. Older people are frequently referred directly to Falls units, who will be seeing increasing numbers of patients with dizziness. A high index of suspicion allows early identification and treatment of this condition.

Defective auditory interhemispheric transfer in a patient with a PAX6 mutation.

Heterozygous PAX6 mutation is associated with an absent or hypoplastic anterior commissure and a reduction in the area of the corpus callosum. The authors found deficient auditory interhemispheric transfer in a 53-year-old woman with a PAX6 mutation who had an absent anterior commissure but normal callosal volume.

Hearing loss in adult Refsum's disease.

Refsum's disease is characterized by defective peroxisomal alpha oxidation of phytanic acid, with clinical features that include retinitis pigmentosa, polyneuropathy, anosmia and hearing loss. Although hearing loss in Refsum's disease is common, there are few detailed assessments of the site of the abnormality. We examined the audiometric findings in patients with biochemically diagnosed Refsum's disease in order to assess the site of origin of the hearing loss. We found hearing loss, ranging from mild, predominantly high frequency to moderate degree, in seven out of nine patients with biochemically diagnosed adult Refsum's disease. In addition, we found evidence to suggest subtle auditory nerve involvement in six out of the seven patients with hearing loss and in one out of the two patients with a normal pure tone audiogram, on the basis of the ABR test results. We conclude that patients with Refsum's disease who report hearing difficulties should have full audiometric investigations in order to provide appropriate audiological rehabilitation.

Auditory event-related potentials in the assessment of auditory processing disorders: a pilot study.

The aim of this pilot study was to investigate whether children with a suspected auditory processing disorder (sAPD) in the presence of normal hearing, differ significantly from normal age-matched controls on particular parameters of auditory event-related potentials. We assessed nine children (mean age 9.5 years) in whom the clinical profile and the results in a screening test for auditory processing disorder (SCAN/SCAN-A) suggested the presence of an auditory processing disorder, and nine age-matched normal control subjects, using auditory event-related potentials (ERP) to phonemes/ba/(standard) and/da/(deviant). Analysis of the auditory ERP recordings revealed an enlarged P85 - 120 and attenuated N1 and P2 in all sAPD children compared to controls. We also found significantly increased N1 peak latency, and a larger peak to peak amplitude of the P85 - 120-N1 and P2-N2 and smaller peak to peak amplitude of the N1-P2 in the sAPD children. Subtraction of the standard auditory ERP from the deviant revealed a mismatch negativity with no significant differences in duration, peak or onset latency between the control subjects and sAPD. Our results indicate that neurophysiological measures may identify a group of children with specific problems suggestive of an auditory processing disorder in the absence of an obvious structural or functional lesion who warrant further study in order to assess whether these findings reflect delayed CNS myelination.

Aetiology and clinical presentations of auditory processing disorders--a review.

Auditory processing disorders may have detrimental consequences on a child's life, if undiagnosed and untreated. We review causes of auditory processing disorders in order to raise clinical awareness. Auditory processing disorders may present against a background of neurological disease or developmental disorders, as well as in isolation. Clinicians need to be aware of potential causes and implications of auditory processing disorders.

Audiometric abnormalities in children with Gaucher disease type 3.

Exogenous enzyme replacement therapy achieves satisfactory biomedical correction in Gaucher type 1 disease and may halt or reverse neurological progression in type 3, while it does not appear to influence the outcome in type 2. In view of the therapeutic possibilities, early detection and monitoring of type 3 Gaucher disease, as well as evaluation of the effectiveness of enzyme therapy on neuronopathic involvement is necessary. The objective of this study was to evaluate the extent of brainstem disease in children with proven Gaucher type 3, by means of an audiological test battery. We studied 9 patients with Gaucher type 3 disease. The tests included baseline audiometric tests, as well as auditory brainstem evoked responses (ABR), acoustic reflexes and medial olivo-cochlear suppression by contralateral noise tests, that involve overlapping but not identical efferent and afferent pathways and brainstem structures. We found a constellation of abnormalities including bilaterally raised acoustic reflexes, poor medial olivo-cochlear suppression, and very poor brainstem evoked potentials. These abnormalities could be due to a single lesion in the dorsomedial brainstem, or to multiple lesions, and further study is needed to clarify this issue. Combined audiological tests may provide information on the severity of the neurological involvement and should therefore be part of a standard assessment for the diagnosis as well as for long term neurological monitoring of Gaucher type 3 patients.