scholarly journals Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study

2020 ◽  
Vol 9 (11) ◽  
pp. 3790
Author(s):  
Mihaela Alexandru ◽  
Marie Courbebaisse ◽  
Christine Le Pajolec ◽  
Adeline Ménage ◽  
Jean-François Papon ◽  
...  
Keyword(s):  
Vestibular Function ◽  
Head Rotation ◽  
Gitelman Syndrome ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Vestibular Disorder ◽  
Gene Encoding ◽  
Slc12a3 Gene ◽  
Sodium Chloride Cotransporter ◽  
Kinetic Test

Gitelman syndrome (GS) is a rare salt-losing tubulopathy caused by an inactivating mutation in the SLC12A3 gene, encoding the thiazide-sensitive sodium chloride cotransporter (NCC). Patients with GS frequently complain of vertigo, usually attributed to hypovolemia. Because NCC is also located in the endolymphatic sac, we hypothesized that patients with GS might have vestibular dysfunction. Between April 2013 and September 2016, 20 (22%) out of 90 patients followed at the reference center complained of vertigo in the absence of orthostatic hypotension. Sixteen of them were referred to an otology department for investigation of vestibular function. The vertigo was of short duration and triggered in half of them by head rotation. Seven patients (44%) had a vestibular syndrome. Vestibular syndrome was defined: (1) clinically, as nystagmus triggered by the head shaking test (n = 5); and/or (2) paraclinically, as an abnormal video head impulse test (n = 0), abnormal kinetic test (n = 4) and/or abnormal bithermal caloric test (n = 3). Five patients had associated auditory signs (tinnitus, aural fullness or hearing loss). In conclusion, we found a high frequency of vestibular disorder in GS patients suffering from vertigo, suggesting a role of NCC in the inner ear. Referent physicians of these patients should be aware of this extrarenal manifestation that requires specific investigations and treatment.

scholarly journals The Head Impulse Test as a Predictor of Videonystagmography Caloric Test Lateralization According to the Level of Examiner Experience: A Prospective Open-Label Study

2018 ◽  
Vol 97 (1-2) ◽  
pp. 16-23
Author(s):  
Ashraf Awadie ◽  
Yehuda Holdstein ◽  
Margalit Kaminer ◽  
Avi Shupak
Keyword(s):  
Eye Movement ◽  
Sensitivity And Specificity ◽  
Test Performance ◽  
Tertiary Care ◽  
False Negative ◽  
Head Rotation ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Open Label ◽  
Head Impulse

We conducted a study to compare how well the head impulse test (HIT), without and with eye-movement recordings, would predict videonystagmographic (VNG) caloric test lateralization when performed by a resident and an experienced otoneurologist. This prospective, open-label, blinded study was conducted in an ambulatory tertiary care referral center. Our study population was made up of 60 patients—29 men and 31 women, aged 20 to 82 years (mean: 56.4 ± 11.4)—with peripheral vestibulopathy who underwent HIT and VNG caloric testing. The HIT was conducted in two protocols: HIT0 and HIT1. The HIT0 was performed with passive brisk movements of the patient's head from the 0° null position to 20° sideways, and the HIT1 was performed toward the center while the null position was a 20° head rotation to the right and to the left. Each protocol was carried out without video eye-movement recordings (HIT0 and HIT1) and with such recordings (rHIT0 and rHIT1). The primary outcome measures were (1) a comparison of the HIT's sensitivity and specificity when performed by the resident and by the experienced otoneurologist and (2) the ability of video-recorded HIT to predict VNG caloric test lateralization. The sensitivity and specificity obtained by the resident were 41 and 81%, respectively, for HIT0 and 41 and 90% for HIT1. The sensitivity and specificity obtained by the experienced otoneurologist were 18 and 89% for HIT0 and 32 and 85% for HIT1. Analysis of the recorded eye-movement clips of the HIT0 and HIT1 obtained by a second experienced otoneurologist found a sensitivity and specificity of 32 and 63% for rHIT0 and 33 and 82% for rHIT1. We conclude that the HIT yields high false-negative rates in predicting significant caloric lateralization. Analysis of the eye-movement recordings was no better than normal testing alone for detecting saccades. The experience of the examining physician had no impact on test performance characteristics.

scholarly journals The Head Impulse Test as a Predictor of Videonystagmography Caloric Test Lateralization according to the Level of Examiner Experience: A Prospective Open-Label Study

2018 ◽  
Vol 97 (1-2) ◽  
pp. 16-23
Author(s):  
Ashraf Awadie ◽  
Yehuda Holdstein ◽  
Margalit Kaminer ◽  
Avi Shupak
Keyword(s):  
Eye Movement ◽  
Sensitivity And Specificity ◽  
Test Performance ◽  
Tertiary Care ◽  
False Negative ◽  
Head Rotation ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Open Label ◽  
Head Impulse

We conducted a study to compare how well the head impulse test (HIT), without and with eye-movement recordings, would predict videonystagmographic (VNG) caloric test lateralization when performed by a resident and an experienced otoneurologist. This prospective, open-label, blinded study was conducted in an ambulatory tertiary care referral center. Our study population was made up of 60 patients–29 men and 31 women, aged 20 to 82 years (mean: 56.4 ± 11.4)—with peripheral vestibulopathy who underwent HIT and VNG caloric testing. The HIT was conducted in two protocols: HITO and HIT1. The HITO was performed with passive brisk movements of the patient's head from the 0° null position to 20° sideways, and the HIT1 was performed toward the center while the null position was a 20° head rotation to the right and to the left. Each protocol was carried out without video eye-movement recordings (HITO and HIT1) and with such recordings (rHITO and rHITl). The primary outcome measures were (1) a comparison of the HIT's sensitivity and specificity when performed by the resident and by the experienced otoneurologist and (2) the ability of video-recorded HIT to predict VNG caloric test lateralization. The sensitivity and specificity obtained by the resident were 41 and 81 %, respectively, for HITO and 41 and 90% for HIT1. The sensitivity and specificity obtained by the experienced otoneurologist were 18 and 89% for HITO and 32 and 85% for HIT1. Analysis of the recorded eye-movement clips of the HITO and HITl obtained by a second experienced otoneurologist found a sensitivity and specificity of 32 and 63% for rHITO and 33 and 82% for rHIT1. We conclude that the HIT yields high false-negative rates in predicting significant caloric lateralization. Analysis of the eye-movement recordings was no better than normal testing alone for detecting saccades. The experience of the examining physician had no impact on test performance characteristics.

scholarly journals Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome

2002 ◽  
Vol 20 (4) ◽  
pp. 321-321
Author(s):  
Marie-Louise Syrén ◽  
Silvana Tedeschi ◽  
Laila Cesareo ◽  
Rosa Bellantuono ◽  
Giacomo Colussi ◽  
...  
Keyword(s):  
Gitelman Syndrome ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Slc12a3 Gene

scholarly journals Bilateral vestibulopathy decreases self-motion perception

2021 ◽  
Author(s):  
Lisa van Stiphout ◽  
Florence Lucieer ◽  
Maksim Pleshkov ◽  
Vincent Van Rompaey ◽  
Josine Widdershoven ◽  
...  
Keyword(s):  
Cluster Analysis ◽  
Motion Perception ◽  
Vestibular Function ◽  
Trial Registration ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Video Head Impulse Test ◽  
Bilateral Vestibulopathy ◽  
Control Subjects ◽  
Self Motion

Abstract Objective Current diagnostic criteria for bilateral vestibulopathy (BV) primarily involve measurements of vestibular reflexes. Perceptual self-motion thresholds however, are not routinely measured and their clinical value in this specific population is not yet fully determined. Objectives of this study were (1) to compare perceptual self-motion thresholds between BV patients and control subjects, and (2) to explore patterns of self-motion perception performance and vestibular function in BV patients. Methods Thirty-seven BV patients and 34 control subjects were included in this study. Perceptual self-motion thresholds were measured in both groups using a CAREN platform (Motek Medical BV, Amsterdam, The Netherlands). Vestibular function was evaluated (only in BV patients) by the caloric test, torsion swing test, video head impulse test of all semicircular canals, and cervical- and ocular vestibular-evoked myogenic potentials. Differences in thresholds between both groups were analyzed. Hierarchical cluster analysis was performed to visualize patterns between self-motion perception and vestibular function within the group of BV patients. Results Perceptual self-motion thresholds were significantly higher in BV patients compared to control subjects, regarding nearly all rotations and translations (depending on the age group) (p ≤ 0.001). Cluster analysis showed that within the group of BV patients, higher perceptual self-motion thresholds were generally associated with lower vestibular test results (significant for yaw rotation, caloric test, torsion swing test, and video head impulse test (p ≤ 0.001)). Conclusion Self-motion perception is significantly decreased in BV patients compared to control subjects regarding nearly all rotations and translations. Furthermore, decreased self-motion perception is generally associated with lower residual vestibular function in BV patients. Trial registration Trial registration number NL52768.068.15/METC

scholarly journals Saccades Matter: Reduced Need for Caloric Testing of Cochlear Implant Candidates by Joint Analysis of v-HIT Gain and Corrective Saccades

2021 ◽  
Vol 12 ◽  
Author(s):  
Constanza Fuentealba Bassaletti ◽  
Babette F. van Esch ◽  
Jeroen J. Briaire ◽  
Peter Paul G. van Benthem ◽  
Erik F. Hensen ◽  
...  
Keyword(s):  
Cochlear Implant ◽  
Medical Center ◽  
Area Under The Curve ◽  
Vestibular Function ◽  
Joint Analysis ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Operating Characteristics ◽  
Caloric Testing ◽  
Corrective Saccades

Objectives: Video head impulse test (v-HIT) is a quick, non-invasive and relatively cheap test to evaluate vestibular function compared to the caloric test. The latter is, however, needed to decide on the optimal side to perform cochlear implantation to avoid the risk on inducing a bilateral vestibular areflexia. This study evaluates the effectiveness of using the v-HIT to select cochlear implant (CI) candidates who require subsequent caloric testing before implantation, in that way reducing costs and patient burden at the same time.Study Design: Retrospective study using clinical data from 83 adult CI-candidates, between 2015 and 2020 at the Leiden University Medical Center.Materials and Methods: We used the v-HIT mean gain, MinGain_LR, the gain asymmetry (GA) and a newly defined parameter, MGS (Minimal Gain & Saccades) as different models to detect the group of patients that would need the caloric test to decide on the ear of implantation. The continuous model MGS was defined as the MinGain_LR, except for the cases with normal gain (both sides ≥0.8) where no corrective saccades were present. In the latter case MGS was defined to be 1.0 (the ideal gain value).Results: The receiver operating characteristics curve showed a very good diagnostic accuracy with and area under the curve (AUC) of 0.81 for the model MGS. The v-HIT mean gain, the minimal gain and GA had a lower diagnostic capacity with an AUC of 0.70, 0.72, and 0.73, respectively. Using MGS, caloric testing could be avoided in 38 cases (a reduction of 46%), with a test sensitivity of 0.9 (i.e., missing 3 of 28 cases).Conclusions: The newly developed model MGS balances the sensitivity and specificity of the v-HIT better than the more commonly evaluated parameters such as mean gain, MinGain_LR and GA. Therefore, taking the presence of corrective saccades into account in the evaluation of the v-HIT gain can considerably reduce the proportion of CI-candidates requiring additional caloric testing.

scholarly journals Evaluation of vestibular function using video Head Impulse Test, caloric test and VEMP in patients with vestibular neuritis

2015 ◽  
Vol 74 (6) ◽  
pp. 534-540
Author(s):  
Masatoshi Akutsu ◽  
Akemi Sugita-Kitajima ◽  
Koshi Mikami ◽  
Yujin Kato ◽  
Fumihiro Mochizuki ◽  
...  
Keyword(s):  
Vestibular Function ◽  
Vestibular Neuritis ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Video Head Impulse Test ◽  
Head Impulse

scholarly journals Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation

2021 ◽  
Author(s):  
Maria Clara Novais de Matos ◽  
Fábio Correia ◽  
Maria Inês Silva ◽  
Sofia Carola ◽  
Ana Órfão ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Sodium Chloride ◽  
Metabolic Alkalosis ◽  
Rare Case ◽  
Novel Mutation ◽  
Gitelman Syndrome ◽  
Clinical Approach ◽  
Slc12a3 Gene ◽  
Sodium Chloride Cotransporter ◽  
Renal Tubulopathy

Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement ad eternum. We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.

Influence of vestibular rehabilitation on the recovery of all vestibular receptor organs in patients with unilateral vestibular hypofunction

2020 ◽  
Vol 47 (2) ◽  
pp. 227-235
Author(s):  
Anamarija Sestak ◽  
Sinisa Maslovara ◽  
Zeljko Zubcic ◽  
Andrijana Vceva
Keyword(s):  
Vestibular Function ◽  
Vestibular Rehabilitation ◽  
Vestibular Evoked Myogenic Potentials ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Vestibular Hypofunction ◽  
Sf 36 ◽  
Significant Difference ◽  
Different Types ◽  
Vestibular Receptor

BACKGROUND: Only a few studies in the literature demonstrate the effect of vestibular rehabilitation (VR) on all vestibular receptor organs. Furthermore, very little evidence of the effect of VR on isolated otolith dysfunction (IOD) is available. OBJECTIVE: The study aimed to investigate the effect of VR on all vestibular receptor organs in patients with different types of unilateral vestibular hypofunction (UVH). METHODS: We enrolled 80 patients with three different types of UVH; combined and isolated loss of semicircular canal and otolith organ function. All patients performed a 12-week customized program of VR and received a full battery of vestibular function tests, before and after the VR. The DHI and SF-36 were performed before, after 6 weeks, and 12 weeks of the VR. RESULTS: Parameters of the caloric test, video head impulse test, ocular and cervical vestibular evoked myogenic potentials were significantly improved after VR. A total of 59 (74%) patients fully recovered, with no significant difference in recovery regarding the type (p = 0.13) and stage of UVH (p = 0.13). All patients reported significantly lower disability and a better quality of life after the VR based on the DHI and SF-36 score. CONCLUSIONS: Vestibular rehabilitation has a positive effect on the recovery of all vestibular receptor organs and it should be used in patients with IOD.

scholarly journals Skull Vibration-Induced Nystagmus Test in a Human Model of Horizontal Canal Plugging

2021 ◽  
Vol 11 (3) ◽  
pp. 301-312
Author(s):  
Georges Dumas ◽  
Christol Fabre ◽  
Anne Charpiot ◽  
Lea Fath ◽  
Hella Chaney-Vuong ◽  
...  
Keyword(s):  
Semicircular Canal ◽  
Vestibular Function ◽  
Human Model ◽  
Vestibular Evoked Myogenic Potentials ◽  
Head Impulse Test ◽  
Slow Phase ◽  
Caloric Test ◽  
Horizontal Semicircular Canal ◽  
Horizontal Canal ◽  
Tertiary Referral Center

Background/Aim: the aim of this study was to assess the skull vibration-induced nystagmus test (SVINT) results and vestibular residual function after horizontal semicircular canal (HSCC) plugging. Methods: In this retrospective chart review performed in a tertiary referral center, 11 patients who underwent unilateral horizontal semicircular canal plugging (uHSCCP) for disabling Menière’s disease (MD) were included. The skull vibration-induced nystagmus (SVIN) slow-phase velocity (SPV) was compared with the results of the caloric test (CaT), video head impulse test (VHIT), and cervical vestibular-evoked myogenic potentials (cVEMP) performed on the same day. Results: Overall, 10 patients had a strong SVIN beating toward the intact side (Horizontal SVIN-SPV: 8.8°/s ± 5.6°/s), 10 had a significant or severe ipsilateral CaT hypofunction, 10 had an ipsilateral horizontal VHIT gain impairment, and 3 had altered cVEMP on the operated side. Five had sensorineural hearing worsening. SVIN-positive results were correlated with CaT and horizontal VHIT (HVHIT) results (p < 0.05) but not with cVEMP. SVIN-SPV was correlated with CaT hypofunction in % (p < 0.05). Comparison of pre- and postoperative CaT % hypofunction showed a significant worsening (p = 0.028). Conclusion: SVINT results in a human model of horizontal canal plugging are well correlated with vestibular tests exploring horizontal canal function, but not with cVEMP. SVINT always showed a strong lesional nystagmus beating away from the lesion side. SVIN acts as a good marker of HSCC function. This surgical technique showed invasiveness regarding horizontal canal vestibular function.

scholarly journals Vestibular Function in Children and Adults Before and After Unilateral or Sequential Bilateral Cochlear Implantation

2021 ◽  
Vol 12 ◽  
Author(s):  
Ruirui Guan ◽  
Yanqi Wang ◽  
Sasa Wu ◽  
Bo Zhang ◽  
Jingwu Sun ◽  
...  
Keyword(s):  
Cochlear Implantation ◽  
Round Window ◽  
Low Frequency ◽  
Vestibular Function ◽  
Head Impulse Test ◽  
Caloric Test ◽  
Vestibular Evoked Myogenic Potential ◽  
Before And After ◽  
Adults And Children ◽  
Window Approach

Background: Cochlear implantation (CI) helps patients with severe or profound sensorineural hearing loss (SNHL) restore hearing and speech abilities. However, some patients exhibit abnormal vestibular functions with symptoms such as dizziness or balance disorders, after CI. Whether age at CI and CI approach (unilateral or sequential bilateral) affect vestibular functions in users with cochlear implants remains unclear.Objectives: To investigate the vestibular functions in children and adults before and after unilateral or sequential bilateral CI.Materials and Methods: Thirty-seven patients with severe or profound SNHL who were candidates for a first- or second-side CI were divided into three groups: first-side CI-implanted adults (≥18 years), first-side CI-implanted children (6–17 years), and second-side CI-implanted children (6–17 years). All cases were implanted with the round window approach to minimize damage to the intra-cochlear structures. The caloric test, vestibular evoked myogenic potential (VEMP) test, video head impulse test (vHIT), Dizziness Handicap Inventory (DHI), Pediatric Vestibular Symptom Questionnaire (PVSQ), and audiometric tests were performed before and 1 month after CI.Results: The abnormal rates of caloric test and VEMP test after CI in the first-side CI-implanted adults and children significantly increased compared with those before CI. The pre-implantation VEMP test showed significantly higher abnormal rates between first- and second-side CI-implanted children. No other significant differences of abnormal rates between first- and second-side CI-implanted children or between first-side CI-implanted adults and children were found. In second-side CI-implanted children, PVSQ scores significantly increased at day 3 post-implantation but decreased at day 30.Conclusion: CI has a negative effect on the results of caloric and VEMP tests, but not on vHIT, indicating that the otolith and low-frequency semicircular canal (SCC) are more vulnerable to damage from CI. The alterations of vestibular functions resulting from CI surgery may be independent of age at CI and CI approach (unilateral or sequential bilateral). Long-term impacts on the vestibular function from CI surgery, as well as the chronic electrical stimulation to the cochlea, are still to be investigated.

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