Vestibular Examination Research Articles

Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in ACTG1

We analyzed the phenotype in a 5-generation DFNA20/26 family with a novel missense mutation in the ACTG1 gene (c.151G>A) and compared the findings to previous reports on DFNA20/26 families. Audiometric data were collected from the family members of a Dutch kindred with the novel ACTG1 mutation. Cross-sectional and/or longitudinal analyses were performed on pure tone and speech audiometry data of the mutation carriers. Age-related typical audiograms were constructed. Vestibular examination was performed in all mutation carriers. Overall, high-frequency hearing impairment, most prominent at ages over 30 years, was observed with a progression rate of 1.1 to 2.1 dB/y, increasing with frequency. It ultimately resulted in residual hearing. Speech recognition scores remained good at given pure tone average (1, 2, and 4 kHz) levels, but were slightly poorer than those at similar levels in a group of patients with presbycusis. Vestibular examination did not reveal any consistent, statistically significant abnormalities. The audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. Considerable variations were found in audiogram configurations within the family. This is the first known DFNA20/26 family that has experienced tinnitus.

Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3

Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular involvement appeared to be present in 2 affected individuals according to their medical history. Vestibular examination results in an extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia. DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment.

Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family with a Novel Mutation in POU4F3

Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P. A 4-generation pedigree was constructed of the Dutch family with the novel L223P POU4F3 mutation. Pure tone audiometric data were collected and analyzed cross-sectionally in mutation carriers. Age-related typical audiograms were derived. Vestibular examination was performed in most of the mutation carriers. The results were compared to those obtained from previously identified 884de18 and L289F POU4F3 mutation carriers. A novel mutation (L223P) in POU4F3 segregated with hearing impairment in the present family. Audiometric analysis generally showed an early-adult to midlife onset of hearing impairment. High-frequency hearing impairment was observed most frequently. Age-related typical audiograms showed a down-sloping configuration at ages of more than 30 years, with the fastest rate of progression at the high frequencies. Vestibular function tests revealed hypofunction of the vestibular labyrinth in 2 mutation carriers (not statistically significant). The clinical features in the present family with a POU4F3 mutation were fairly similar to those in the 2 previously described DFNA15 families, but the level of hearing impairment was milder, and there was no substantial vestibular dysfunction.

Audiological and vestibular findings in the Kabuki syndrome

Since the first description of Kabuki syndrome (KS) in 1981, over 350 cases from a variety of countries have been reported. Even though otolaryngological manifestations are common in KS, only a limited number of the reports provide audiological and vestibular data. The aim of the present study was to investigate the vestibular function and describe the audiological findings in KS. The present study reports no audiological and vestibular features in a group of 10 KS patients (7 males, 3 females), with chronological age ranging from 10 to 25 years (mean age = 14.5): a complete otoneurological and audiological work-up was performed for each patient and included where possible, the measurement of vestibular evoked potentials, caloric tests and static posturography. Hearing loss was found in 65% showing a mix or a conductive impairment; moreover the vestibular function was normal in 95% of the examined ears. In conclusion, audiological and vestibular examination should be considered when evaluating KS subjects.

Bilateral loss of caloric response in conscious patients (areflexia vestibularis)

Bilateral loss of caloric response in conscious patients (areflexia vestibularis) Twenty-six of 11 793 consecutive vestibular examinations showed no vestibular response to bilateral irrigation with 20oC water (areflexia vestibularis). CNS malignancies, infections, congenital disorders, drugs and various central nervous system disorders were found to be the most frequent aetiological factors. Associated sensorineural hearing loss– infection expected–was an uncommon finding as 17 of 26 examinations showed no auditory impairment.

Clinical Management of a Patient with Chronic Recurrent Vertigo Following a Mild Traumatic Brain Injury

Vertigo, was provoked and right torsional up-beat nystagmus was observed in a 47-year-old patient when she was placed into the right Hallpike-Dix test position using infrared goggle technology. The clinical diagnosis was benign paroxysmal positional vertigo (BPPV), specifically right posterior canalithiasis, resulting from a mild traumatic brain injury (TBI) suffered approximately six-months earlier. Previous medical consultations did not include vestibular system examination, and Meclizine was prescribed to suppress her chief complaint of vertigo. Ultimately, the patient was successfully managed by performing two canalith repositioning maneuvers during a single clinical session. The patient reported 100% resolution of symptoms upon reexamination the following day, and the Hallpike-Dix test was negative. Continued symptom resolution was subjectively reported 10 days postintervention via telephone consultation. This case report supports previous publications concerning the presence of BPPV following TBI and the need for inclusion of vestibular system examination during medical consultation.

Endolymphatic space imaging in patients with delayed endolymphatic hydrops

Conclusion: Magnetic resonance imaging (MRI) after intratympanic gadolinium injection can reveal endolymphatic hydrops (ELH) in patients with delayed ELH (DELH). Patients with contralateral DELH may have bilateral ELH. Objective: DELH has previously been diagnosed based on clinical history, hearing and vestibular examinations. DELH is classified into three types: ipsilateral, contralateral and bilateral indicate the side with the longstanding hearing loss. Ipsilateral DELH occurs in the ear with a profound hearing loss, contralateral DELH in the better hearing ear and bilateral DELH in both ears. Imaging diagnosis of the endolymphatic space may add a new dimension to the diagnosis and treatment of DELH. Patients and methods: Gadodiamide hydrate was diluted eightfold with saline. The diluted gadodiamide hydrate was injected intratympanically through the tympanic membrane in two patients with ipsilateral DELH and five patients with contralateral DELH. One day after the injection, 3 Tesla MRI was performed to evaluate the endolymphatic space. Results: ELH was observed in all patients. In three patients who underwent bilateral intratympanic injection of gadolinium and were diagnosed with contralateral DELH, ELH was observed bilaterally. In one of these three patients, ELH was observed in the cochlea on the left and in the vestibule on the right.

The ice-water caloric test

Conclusions: Three possible results are commonly seen after ice-water caloric irrigation and to correctly interpret them the function of the corresponding vestibular receptor and of normal endolymphatic flow must be taken into account. Bedside vestibular examination helps to interpret discrepant findings. Objective: To review the findings obtained with the ice-water caloric test in patients with dizziness and to compare the results with those of the bedside test. Patients and methods: The study was undertaken in a university hospital, tertiary medical center. The indications to perform the ice-water caloric test were: 1) unilateral canal weakness >90%; 2) a maximum slow phase velocity of nystagmus after hot (44°C) and cold (30°C) caloric stimulation in either ear of <9° s–1; or 3) in both ears <15° s–1. After irrigating the ear with ice water, nystagmus was recorded in the face-up and face-down positions. The result of the test was classified as a response (nystagmus beats away from the irrigated ear in the supine position and changes when in prone), a gravity-independent response (nystagmus does not change in direction in the prone position) or no response. The spontaneous and post head-shaking nystagmus, as well as the results of the head-impulse test, were also analyzed. When indicated, a rotatory chair test was performed. Results: In the 71 patients that displayed unilateral hypofunction, the ice-water test produced a normal response in 24, a gravity-independent response in 31, and no response in 14. In two of these patients a vertical gravity-independent nystagmus response was observed. Bilateral hypofunction was found in 12 patients and the results in the head-impulse test were in agreement with the results in the ice-water test.

Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6

Spinocerebellar ataxia type 6 (SCA6) is a calcium channelopathy due to a pathological CAG repeat expansion in CACNL1A4. Patients frequently describe paroxysmal vertigo early in the disease course, but it is not clear whether this is central or labyrinthine in origin. To address this issue we studied 21 SCA6 patients. Symptoms of vertigo were defined using a structured questionnaire. Signs were recorded during a standardised bed-side vestibular examination that included systematic positional testing with Frenzel goggles.Brief, recurrent attacks of vertigo occurred in 13 patients, usually preceding the onset of ataxia. Nystagmus was observed behind Frenzel goggles in 14 patients, and was induced either during positional testing, or head shaking in 20 patients. Only one patient had findings typical of benign paroxysmal positional vertigo (BPPV). Combined downbeat and horizontal gaze-evoked nystagmus ("side-pocket") was the most common form, occurring most commonly in supine and head-hanging positions, and following horizontal head-shaking. Nystagmus beating away from the ground (apogeotropic) occurred in 9 patients as they lay on their side.In conclusion, vertigo and abnormalities on bedside vestibular examination are common in SCA6, with forms of nystagmus typical of cerebellar, rather than labyrinthine, disease. These findings demonstrate phenotypic overlap between SCA6 and episodic ataxia type 2, which are both due to mutations in CACNL1A4.

Vestibular impairments pre- and post-cochlear implant in children

Determine prevalence and types of vestibular impairments in sensorineural hearing loss (SNHL) in a large population of pediatric candidates for cochlear implants. Evaluate impact of cochlear implants on vestibular function. Retrospective and prospective study. Children with profound SNHL (n=224) underwent complete vestibular testing (clinical vestibular examination, bicaloric test, earth vertical axis rotation, off vertical axis rotation and vestibular evoked myogenic potentials) before cochlear implant. Changes in vestibular responses were measured after implants in 89 of these patients. In the SNHL population only 50% had normal bilateral vestibular function, while 20% had bilateral complete areflexia, 22.5% partial asymmetrical hypoexcitability and 7.5% partial symmetrical hypoexcitability. In the 71/89 follow-up patients showing vestibular responses prior to implant, 51 (71%) had changes in vestibular function including 7 (10%) who acquired ipsilateral areflexia. Others developed ipsilateral hypo- or hyperexcitability. Vestibular modifications occurred during the 3 months after surgery and were not clearly associated with clinical signs except for ipsilateral areflexia cases. In long-term follow-up, two of the 7 patients with ipsilateral areflexia partially recovered vestibular function. Since half of pediatric cochlear implant candidates have vestibular deficits and 51% of implants induce modifications of existing vestibular function, each implant should be preceded by canal and otolith functional tests to assure that the least functional vestibule is implanted. The tests provide baselines for follow-up monitoring of subsequent losses and recovery. This could be easily implemented with a clinical vestibular examination including the head thrust test associated with a bicaloric test and vestibular-evoked-myogenic-potentials.

Pesquisa da função vestibular em crianças com queixa de dificuldades escolares

O aprendizado é um processo complexo, dinâmico, estruturado a partir de um ato motor e perceptivo, que, elaborado corticalmente, dá origem à cognição. O equilíbrio é função neurológica importante para a manutenção de posturas adequadas, imprescindíveis no ato de aprender, indicativo de maturidade neurológica. OBJETIVO: Estudar a função vestibular em crianças com dificuldades escolares. ESTUDO DE CASO: Estudo clínico com coorte transversal. MATERIAL E MÉTODO: Foram estudadas 88 crianças entre 7 e 12 anos, que freqüentavam escolas públicas da cidade de Piracicaba durante os anos de 2004 e 2006. Os procedimentos utilizados foram: a anamnese; exame otorrinolaringológico; exame audiológico e avaliação vestibular. RESULTADOS: Das crianças avaliadas, 51,0% não relataram dificuldades escolares e 49,0% referiram ter dificuldades escolares. Encontramos 73,3% de exame vestibular normal nas crianças sem dificuldades escolares e 32,6% de normalidade nas crianças com dificuldades escolares. Encontramos alterações vestibulares de origem periférica irritativa tanto unilateral como bilateral, perfazendo um total de 67,4% para as crianças com dificuldades escolares e um total de 26,7% para crianças sem dificuldades escolares. CONCLUSÃO: Todas as alterações vestibulares encontradas foram de origem periférica irritativa. Os dados revelaram uma relação estatisticamente significante nas crianças com dificuldades escolares.

Vestibular function in children underperforming at school

SummaryLearning is a complex, dynamic process, structured from motor and perception skills which, when cortically processed, give birth to cognition. Balance is a fundamental neurological function that helps us maintain proper postures, an essential factor in learning and a sign or neurologic maturity. Aim: this paper aims to study vestibular function in children underperforming at school. Study design: this is a cross-sectional study. Materials and method: eighty-eight children with ages ranging between 7 and 12 years attending the public schools of Piracicaba from 2004 to 2006 were enrolled. All children were interviewed, submitted to ENT examination, hearing tests, and vestibular examination. Results: fifty-one percent of the participants had no reported difficulties at school, whereas 49.0% were underperforming at school. Under vestibular examination, 73.3% of the children performing well at school had normal findings, whereas 32.6% of the underperforming children had normal test results. Unilateral and bilateral irritative peripheral vestibular alterations were found in 67.4% of the underperformers and in 26.7% of the children not experiencing difficulties at school. Conclusion: all vestibular alterations found had an irritative peripheral origin. There was a statistically significant association between vestibular alteration and poor performance at school.

Function disorders of otoliths

In the clinical routine, the diagnostic of the lateral gait is often comparable with a complete peripheral vestibular function examination. Diseases of the otolithic organs, with the saccule and utricle are not identified with conventional clinical examination methods. In more than 50% of patients with thermal hypostimulation, orientation tests show a simultaneous pathology of the utricle function. Participation of the saccule has been described for vestibular neuropathy, Menière's disease, bilateral vestibulopathy and acoustic neurinoma. Both otolithic organs are included in posttraumatic vertigo, a recognition, which will influence expert opinions in the future. Only by an exact diagnostic of diseases of the otolithic organs can individual disease courses be differential diagnostically separated from each other.

Postural Tachycardia Syndrome

When a person stands up, he or she assumes that the body will automatically make any changes necessary to compensate for the increased gravitational stress this change of position brings. Indeed, standing causes gravity to try to pull nearly one quarter of the body’s blood downward toward the lower arms, legs, and abdomen, reducing the amount of blood available to keep the brain supplied with oxygen. To maintain a constant oxygen supply to the brain and upper body, standing is normally accompanied by an automatic increase in heart rate and the force with which the heart contracts and, most important, a tightening of the blood vessels in the lower part of the body. The combination of these 3 actions pushes blood upward against the force of gravity, thereby maintaining an uninterrupted flow of blood to the brain. The aspect of the nervous system that governs these …

Audiometric Characteristics of a Dutch Family Linked to DFNA15 With a Novel Mutation (p.L289F) in POU4F3

To report on the audiometric characteristics of a large Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 (OMIM 602460). Clinical investigation. Tertiary referral center. Family members from a large 5-generation pedigree with sensorineural hearing impairment segregating as an autosomal dominant trait. Cross-sectional and longitudinal analyses of pure-tone audiometric data, and cross-sectional analyses of speech audiometry data. Overall, a flat to gently downsloping audiometric configuration was observed with a progression rate of approximately 0.8 dB/y across most frequencies. Speech recognition scores remained fairly good in relation to age and hearing level compared with a group of patients with presbycusis. Interindividual variability was observed in terms of subjective onset age and audiometric configuration. Two mutation carriers, who reported vestibular symptoms, underwent vestibular examination and showed hypofunction of the vestibular labyrinth. The audiometric phenotype of the Dutch family linked to DFNA15 with a novel mutation in POU4F3 is comparable to that observed in the original Israeli family linked to DFNA15. Relatively good speech recognition scores suggest outer hair cell involvement. DFNA15 may represent a cochleovestibular disorder.

Sudden hearing loss: Our experience in treatment with vasoactive therapy

A specific title "sudden hearing loss" refers to illness which is characterized by a sudden, rapid sensoneural hearing loss mostly in one ear without obvious causes, accompanied with dizziness, and without vestibular symptomatology. It is defined as a hearing loss for more than 30 dB on 3 or more successive frequencies which appear in 72 hours. The main goal of our paper was to estimate success of implementation of vasoactive method in patients with sudden hearing loss of senso-neural type in different ranges in hospital conditions. Our research covered 37 patients hospitalized because of a sudden hearing loss of sensoneural type in different ranges. Diagnosis, in all patients, was established by clinical ORL examination, audiology and vestibular examination. R including CT and MR, neurological, internist and laboratory examinations were used in order to exclude other aetiology. In monitored patients, we started treatment with vasoactive therapy, ampules of xanthinol nicotinate (one ampule of 2 ml, 300 mg) or ampules of pentoxiphylline (one ampule of 5 ml, 100 mg) in form of infusions with addition of vitamins with an everyday gradual increase of dosage up to 12 ampules of xanthinol nicotinate and up to 5 ampules of pentoxiphylline. Then we started with an everyday decrease of dosage down to the first one. After the complete curing protocol, we found out that in patients with light and medium senso-neural damages of hearing sense (23 or 62%), hearing recovery was complete. In patients with heavy damage of hearing (9 or 24%), partial success was evidenced. The most difficult cases, with complete hearing loss, heavy buzzing and vertiginous problem (5 or 14%) responded to therapy, so buzzing and vertiginous problems disappeared but hearing was not improved. Usage of vasoactive medicaments in hospital conditions in treatment of sudden hearing loss gives good results and it is the closest to aetiological therapy.

Vestibular disorders in children

When vertigo and dizziness are diagnosed in a child, this is a matter of concern for the physician and the child's family. Prior to a comprehensive otological, neurological, and vestibular clinical examination, physicians often request CT or MRI scanning, although in most cases such expensive testing is unnecessary. The present work is based on the results of a 14-year study conducted with a sample of more than 2,000 children referred for vertigo and balance disorders to the functional vestibular evaluation unit of the ENT pediatric department at Robert Debré Hospital (Paris). The clinical signs of vestibular deficit and the most frequent aetiologies of vertigo and dizziness in children are detailed (migraine equivalent, ophthalmologic disorders, benign paroxysmal idiopathic pediatric vertigo, and temporal bone fracture), which has been helpful in determining the best diagnostic procedure and therapy for vertigo in children.

Chronic subjective dizziness

Conclusion. Chronic subjective dizziness (CSD) is frequent and affects twice as many women as men. Anxiety is a strong predisposing factor. The pathophysiologic concept of this disorder assumes that balance function and emotion share common neurologic pathways, which might explain that the balance disorder can provoke fear and vice versa, giving rise to a problem in perception of space and motion. In anxious patients this can turn into a space and motion phobia, with avoidance behaviour. Objective. CSD is a diagnosis based on the hypothesis of an interaction between the vestibular system and the psychiatric sphere. Patients complain of chronic imbalance, worsened by visual motion stimulation, and frequently suffer from anxiety. Vestibular examination reveals no anomalies. We evaluated the incidence and characteristics of CSD in patients referred to our neuro-otology centre (tertiary hospital outpatient clinic). Subjects and methods. This was a retrospective study of 1552 consecutive patients presenting with vertigo. CSD was diagnosed in 164 patients (female:male=111:53). Results. CSD represents 10.6% of the dizzy patients in our clinic. Psychiatric disorder, mainly anxiety, was found in 79.3% of the cases. Other frequently associated factors were fear of heights and former vestibular lesion (healed). In all, 79.0% of the patients with CSD had poor balance performance on dynamic posturography testing.

Fabry disease and hearing loss

We read with interest the paper by Barras and Maire: the authors reported a case of a patient aVected by Fabry disease suVering also for bilateral hearing loss more pronounced on the left side. During the follow-up the patient presented a sudden episode of hearing loss on the right ear. The authors also performed a vestibular examination, which showed a bilateral complete areXexy at the bi-thermal caloric test. The authors also speculated on the possible causes of hearing involvement and the episodes of sudden hearing loss. In 2003 we published a series of 14 patients aVected by Fabry disease [1]. Each patient underwent a complete clinical (history of otological and vestibular aspects, otoscopy) and instrumental evaluation; we performed pure tone and speech audiometry, impedance, auditory brainstem response and oto-acoustic emission recordings, electronystagmography during vestibular caloric tests and acceleratory stimulation. Fifty per cent of patients presented hearing loss and in six of them the onset and/or progression of hearing symptoms were sudden. The brain stem recordings showed that the site of lesion was always cochlear. All our patients were treated with the enzyme replacement therapy and during these years they did not show signiWcant changes in their symptoms and signs of inner ear involvement. In only two patients we observed a sudden decrease of the hearing threshold, and it was related to a general worsening of manifestation of the disease. In general we can postulate that the enzyme replace therapy stabilize the hearing function in these patients, as observed in other largest series [2]. The cause of the hearing loss in Fabry patients is still not well known; the Wndings of Schachern et al. [3] showed a seropurulent eVusion and an hyperplastic mucosa in the middle ear, but also strial and spiral ligament atrophy, outer hair cell loss and decreased numbers of spiral ganglion cells leading to think to an involvement of both middle and inner ear in the pathogenesis of the hearing loss. The increased incidence of sudden hearing loss could be related to recurrent microvascular infarcts due to the occlusion of the small vessel for the thickening of the endothelial and smooth muscle cells. Indeed we reckon, as supposed by Malinvaud et al. [4], that the globotriaosilceramide (Gb3) accumulation in the cells of the vascular endothelium is the common cause for the repeated episodes of cerebral ischemic attack, renal failure and sudden hearing loss.

10:58 AM: Prediction of ENG Results from Office Vestibular Examination

10:58 AM: Prediction of ENG Results from Office Vestibular Examination