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Keywords = vestibular symptoms/impairments

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11 pages, 552 KiB  
Article
The Link Between Anxiety and Depression, and Balance in Young Adults
by Tatiana Marques, Patrícia Bernardo and Margarida Serrano
Audiol. Res. 2025, 15(3), 57; https://doi.org/10.3390/audiolres15030057 - 12 May 2025
Viewed by 922
Abstract
Background/Objectives: The ability of young adults to control their balance is generally effortless and can occur automatically with minimal cognitive involvement. However, this ability may be compromised when integration conflicts arise due to impairments in vestibular, visual, or somatosensory functions. Hence, psychomotor symptoms [...] Read more.
Background/Objectives: The ability of young adults to control their balance is generally effortless and can occur automatically with minimal cognitive involvement. However, this ability may be compromised when integration conflicts arise due to impairments in vestibular, visual, or somatosensory functions. Hence, psychomotor symptoms linked to emotional states can also influence postural control. The purpose of this study was to understand the effects of anxiety and depression on balance in young adults. Methods: Our study included 50 young adults (21.86 ± 2.63 years), consisting of 13 males and 37 females. Anxiety and depressive symptoms were evaluated using the Hospital Anxiety and Depression Scale (HADS), while balance was assessed through the Modified Clinical Test for the Sensory Interaction on Balance (mCTSIB). Data analysis was conducted using Pearson’s correlation coefficient test and the Kruskal–Wallis test. Results: Pearson’s correlation analysis indicated that young adults exhibited stable postural control. However, a positive correlation (0.259, p < 0.1) was observed between anxiety levels and the sway index. Additionally, positive correlations were found between anxiety and both somatosensory (0.281, p < 0.05) and visual (0.276, p < 0.1) ratios. Conclusions: The results suggest that higher anxiety levels are associated with reduced postural balance, with sensory inputs, particularly visual and somatosensory, playing a key role in this decreased stability. Full article
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18 pages, 1358 KiB  
Article
Co-Existing Vestibular Hypofunction Impairs Postural Control, but Not Frailty and Well-Being, in Older Adults with Benign Paroxysmal Positional Vertigo
by Sara Pauwels, Nele Lemkens, Winde Lemmens, Kenneth Meijer, Pieter Meyns, Raymond van de Berg and Joke Spildooren
J. Clin. Med. 2025, 14(8), 2666; https://doi.org/10.3390/jcm14082666 - 14 Apr 2025
Viewed by 683
Abstract
Background: Vestibular hypofunction occurs in 29.5% of older adults with benign paroxysmal positional vertigo (BPPV), but its impact on postural control, well-being and frailty was not studied before. This study compared the well-being, frailty and postural control between older adults with BPPV and [...] Read more.
Background: Vestibular hypofunction occurs in 29.5% of older adults with benign paroxysmal positional vertigo (BPPV), but its impact on postural control, well-being and frailty was not studied before. This study compared the well-being, frailty and postural control between older adults with BPPV and vestibular hypofunction (oaBPPV+), and older adults with only BPPV (oaBPPV). Methods: Thirty-one older adults (≥65 years old) diagnosed with BPPV were recruited. Unilateral vestibular hypofunction was defined as a >25% caloric asymmetry, and bilateral vestibular hypofunction as a total response <6°/s per ear, using bithermal caloric irrigations. The oaBPPV+ group was compared to the oaBPPV group using the measures of well-being (Dizziness Handicap Inventory, Falls Efficacy Scale and 15-item Geriatric Depression Scale), frailty (Modified Fried Criteria), and postural control (timed chair stand test, mini-Balance Evaluation Systems test and Clinical Test of Sensory Interaction on Balance (CTSIB)). Falls and the number of repositioning maneuvers were documented. Significance level was set at α = 0.05. Results: Unilateral vestibular hypofunction was present in 32% of participants, mainly in females (p = 0.04). Bilateral vestibular hypofunction was not found. The oaBPPV+ group (n = 10, mean age 72.5 (4.5)) experienced more comorbidities (p = 0.02) than the oaBPPV group (n = 21, mean age 72.6 (4.9)). Groups did not differ regarding dizziness symptoms (p = 0.46), fear of falling (p = 0.44), depression (p = 0.48), falls (p = 0.08) or frailty (p = 0.36). However, the oaBPPV+ group showed significantly worse postural control under vestibular-dependent conditions (p < 0.001). Conclusions: Despite equally impaired well-being and frailty, the oaBPPV+ group showed greater sensory orientation deficits. Clinicians and researchers should be alert for co-existing vestibular hypofunction in older adults with BPPV, since this may exacerbate their already impaired postural control more than only BPPV. Full article
(This article belongs to the Section Otolaryngology)
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38 pages, 2169 KiB  
Review
Sensory Dysfunction in ALS and Other Motor Neuron Diseases: Clinical Relevance, Histopathology, Neurophysiology, and Insights from Neuroimaging
by Jana Kleinerova, Rangariroyashe H. Chipika, Ee Ling Tan, Yana Yunusova, Véronique Marchand-Pauvert, Jan Kassubek, Pierre-Francois Pradat and Peter Bede
Biomedicines 2025, 13(3), 559; https://doi.org/10.3390/biomedicines13030559 - 22 Feb 2025
Cited by 1 | Viewed by 1869
Abstract
Background: The clinical profiles of MNDs are dominated by inexorable motor decline, but subclinical proprioceptive, nociceptive and somatosensory deficits may also exacerbate mobility, dexterity, and bulbar function. While extra-motor pathology and frontotemporal involvement are widely recognised in motor neuron diseases (MNDs), reports [...] Read more.
Background: The clinical profiles of MNDs are dominated by inexorable motor decline, but subclinical proprioceptive, nociceptive and somatosensory deficits may also exacerbate mobility, dexterity, and bulbar function. While extra-motor pathology and frontotemporal involvement are widely recognised in motor neuron diseases (MNDs), reports of sensory involvement are conflicting. The potential contribution of sensory deficits to clinical disability is not firmly established and the spectrum of sensory manifestations is poorly characterised. Methods: A systematic review was conducted to examine the clinical, neuroimaging, electrophysiology and neuropathology evidence for sensory dysfunction in MND phenotypes. Results: In ALS, paraesthesia, pain, proprioceptive deficits and taste alterations are sporadically reported and there is also compelling electrophysiological, histological and imaging evidence of sensory network alterations. Gait impairment, impaired dexterity, and poor balance in ALS are likely to be multifactorial, with extrapyramidal, cerebellar, proprioceptive and vestibular deficits at play. Human imaging studies and animal models also confirm dorsal column-medial lemniscus pathway involvement as part of the disease process. Sensory symptoms are relatively common in spinal and bulbar muscular atrophy (SBMA) and Hereditary Spastic Paraplegia (HSP), but are inconsistently reported in primary lateral sclerosis (PLS) and in post-poliomyelitis syndrome (PPS). Conclusions: Establishing the prevalence and nature of sensory dysfunction across the spectrum of MNDs has a dual clinical and academic relevance. From a clinical perspective, subtle sensory deficits are likely to impact the disability profile and care needs of patients with MND. From an academic standpoint, sensory networks may be ideally suited to evaluate propagation patterns and the involvement of subcortical grey matter structures. Our review suggests that sensory dysfunction is an important albeit under-recognised facet of MND. Full article
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11 pages, 203 KiB  
Article
Association of Risk-Taking Behaviors, Vestibular Provocation and Action Boundary Perception Following Sport-Related Concussion in Adolescents
by Shawn R. Eagle, Anthony P. Kontos, Shawn D. Flanagan and Christopher Connaboy
Brain Sci. 2025, 15(3), 229; https://doi.org/10.3390/brainsci15030229 - 22 Feb 2025
Viewed by 858
Abstract
Background/Objectives: The purpose of this study was to evaluate the association between risk-taking behaviors, vestibular symptoms/impairment and perception–action coupling behavior in recently concussed adolescents. Methods: This study utilized a cross-sectional design to evaluate the early effects of concussion on 12–18-year-old adolescents [...] Read more.
Background/Objectives: The purpose of this study was to evaluate the association between risk-taking behaviors, vestibular symptoms/impairment and perception–action coupling behavior in recently concussed adolescents. Methods: This study utilized a cross-sectional design to evaluate the early effects of concussion on 12–18-year-old adolescents (n = 47) recruited from a concussion specialty clinic at their presenting clinical appointment. The Perception–Action Coupling Task (PACT) was used to assess action boundary perception by evaluating the participant’s ability to quickly and accurately determine whether a virtual “ball” fits in a virtual “hole”. Accuracy, response time and inverse efficiency were evaluated at the 0.8 and 1.2 ratios of ball–hole pairings, where 0.8 indicates the ball was slightly smaller than the hole and 1.2 indicates the ball was slightly larger than the hole. The Balloon Analog Risk Task (BART) is a computerized test which measures risk-taking behavior by “pumping” up a balloon. Each pump provides a small amount of virtual money into their bank; the goal is to make as much money as possible without popping the virtual balloon. The Vestibular Ocular Motor Screening (VOMS) tool is a brief screening tool designed to identify ocular or vestibular dysfunction following sport-related concussion, where horizontal/vertical vestibular ocular reflex (VOR) and visual motion sensitivity (VMS) are the primary vestibular outcomes. Pearson correlation matrices were developed to evaluate the association between BART, VOMS and PACT outcomes within the study cohort of concussed adolescents. Results: PACT inverse efficiency at the 1.2 ball–hole ratio was significantly correlated with all three VOMS outcomes (r = 0.33–0.37). The standard deviation of pump reaction time during BART was significantly correlated with accuracy (r = −0.47) and inverse efficiency (r = 0.42) at the 1.2 ratio. The standard deviation of the total number of pumps during BART was significantly correlated with PACT response time at the 1.2 ratio (r = 0.34). Horizontal VOR correlated with balloons collected (r = −0.30) and balloons popped (r = −0.30). Conclusions: The results of this study suggest that risk-taking behaviors and vestibular symptoms/impairment are associated with worse action boundary perception in adolescents following concussion. This relationship is more pronounced in male adolescents than females. Full article
(This article belongs to the Special Issue Advances in Assessment and Training of Perceptual-Motor Performance)
12 pages, 1529 KiB  
Article
Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss
by Karuna Maekawa, Shin-ya Nishio, Kotaro Ishikawa, Masahiro Takahashi, Kozo Kumakawa, Mayuri Okami, Hidekane Yoshimura, Jun Nakayama, Masato Teraoka and Shin-ichi Usami
Genes 2025, 16(2), 123; https://doi.org/10.3390/genes16020123 - 23 Jan 2025
Viewed by 1397
Abstract
Background/Objectives: Hearing loss is one of the most common sensorineural impairments, and approximately 60% of early-onset cases are due to genetic variations. The otogelin-like protein, encoded by the OTOGL gene, is a component of the acellular membranes of the inner ear, such as [...] Read more.
Background/Objectives: Hearing loss is one of the most common sensorineural impairments, and approximately 60% of early-onset cases are due to genetic variations. The otogelin-like protein, encoded by the OTOGL gene, is a component of the acellular membranes of the inner ear, such as the tectorial membrane, and is thought to play an important role in cochlear amplification. OTOGL gene variants are a rare cause of hearing loss such as DFNB84B, a mild-to-moderate sensorineural hearing loss presenting in early childhood with autosomal recessive inheritance. In this study, we aim to enhance our comprehension of the phenotypes of hearing loss caused by OTOGL variants. Methods: A total of 7056 Japanese patients with hearing loss were recruited, and based on massively parallel DNA sequencing on 158 target genes, we selected patients with biallelic OTOGL variants. Results: Ten affected individuals with OTOGL gene variants were detected, the largest group of patients yet to be reported, and eight of the eleven variants were novel. Our results showed that variations in this gene led to mild-to-moderate non-progressive hearing loss, and the accompanying symptoms, mainly vestibular symptoms, were speculated to present in adulthood. Conclusions: Determination of the phenotypes of genes causative of hearing loss is expected to greatly benefit patients with hearing loss as it can assist in predicting outcomes and lead to appropriate intervention, which, in OTOGL-associated hearing loss cases, is based around the fact that the patients need not be concerned with deterioration in hearing, but require careful follow-up for vestibular symptoms. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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15 pages, 3417 KiB  
Article
Clinical Presentation, Treatment Outcomes, and Demographic Trends in Vestibular Schwannomas: A 135-Case Retrospective Study
by Corneliu Toader, Petrinel Mugurel Rădoi, Milena-Monica Ilie, Razvan-Adrian Covache-Busuioc, Vlad Buica, Luca-Andrei Glavan, Matei Serban, Antonio Daniel Corlatescu, Carla Crivoi and Radu Mircea Gorgan
J. Clin. Med. 2025, 14(2), 482; https://doi.org/10.3390/jcm14020482 - 14 Jan 2025
Cited by 1 | Viewed by 1323
Abstract
Background: This study presents a comprehensive analysis of 135 cases of vestibular schwannoma (VS) treated between 2006 and 2022 at the National Institute of Neurology and Neurovascular Diseases in Bucharest, Romania. The investigation focuses on the clinical presentation, treatment outcomes, and demographic [...] Read more.
Background: This study presents a comprehensive analysis of 135 cases of vestibular schwannoma (VS) treated between 2006 and 2022 at the National Institute of Neurology and Neurovascular Diseases in Bucharest, Romania. The investigation focuses on the clinical presentation, treatment outcomes, and demographic trends of VS patients, highlighting region-specific insights that fill critical gaps in Eastern European data. Methods: Patients were treated with either open surgery (93.3%) or gamma knife radiosurgery (6.6%). The study identifies predominant symptoms, including hearing impairment, facial palsy, and balance disorders, with variations observed across age and gender subgroups. Comorbidities such as hypertension and obesity were prevalent, and they influenced perioperative risks. Results: Post-treatment outcomes showed a significant correlation between clinical symptoms and treatment modalities, with a majority achieving favorable results. The findings emphasize the need for tailored approaches in VS management and underscore the importance of region-specific factors in influencing clinical outcomes. Conclusions: This study contributes to refining treatment strategies and improving healthcare delivery for VS patients in Romania and beyond. Full article
(This article belongs to the Special Issue Current Trends in the Management of Vestibular Schwannoma)
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22 pages, 1496 KiB  
Review
Effect of Vestibular Stimulation on Balance and Gait in Parkinson’s Disease: A Systematic Review
by Ardavan Iravani-Naeeni and Amir Mohagheghi
J. Funct. Morphol. Kinesiol. 2024, 9(4), 206; https://doi.org/10.3390/jfmk9040206 - 25 Oct 2024
Viewed by 2266
Abstract
Background/Objectives: Parkinson’s Disease (PD) can be associated with balance and gait impairments leading to increased risk of falls. Several studies have reported positive effects of various forms of vestibular stimulation (VS) for improving balance and stability in people with PD (PwP). The purpose [...] Read more.
Background/Objectives: Parkinson’s Disease (PD) can be associated with balance and gait impairments leading to increased risk of falls. Several studies have reported positive effects of various forms of vestibular stimulation (VS) for improving balance and stability in people with PD (PwP). The purpose of present study was to synthesise the current evidence on the effectiveness of VS, highlighting its potential benefits in improving postural stability and reducing gait impairments in people with Parkinson’s Disease. Method: A systematic search was conducted across databases Cochrane, Medline, PEDro, PubMed, Web of Science, and Google Scholar. Studies were included if they involved PwP at stages 3 or 4 of the Hoehn and Yahr scale, aged 60 years or older. The Risk of Bias (RoB) was assessed using the ROBINS-I tool. The review followed the PRISMA guidelines and the protocol was registered with PROSPERO (CRD42022283898). Results: demonstrated that various forms of VS have shown promise in mitigating symptoms of vestibular dysfunction and improving gait and balance in PwP. However, the overall RoB ranged from moderate to critical, with variations across different domains. Conclusions: While VS appears to offer potential benefits in improving balance and gait in PwP, the presence of biases in the reviewed studies necessitate caution in interpreting the results. Further research should focus on addressing these biases to confirm the therapeutic potential of VS in PD. Full article
(This article belongs to the Section Kinesiology and Biomechanics)
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18 pages, 2455 KiB  
Review
Differentiating the Structural and Functional Instability of the Craniocervical Junction
by Piotr Godek and Wojciech Ruciński
Healthcare 2024, 12(19), 2003; https://doi.org/10.3390/healthcare12192003 - 7 Oct 2024
Cited by 1 | Viewed by 2770
Abstract
This paper presents the anatomical and biomechanical aspects of chronic instability of the craniocervical junction (CCJ) with a discussion on clinical diagnostics based on mobility tests and provocative tests related to ligamentous system injuries, as well as radiological criteria for CCJ instability. In [...] Read more.
This paper presents the anatomical and biomechanical aspects of chronic instability of the craniocervical junction (CCJ) with a discussion on clinical diagnostics based on mobility tests and provocative tests related to ligamentous system injuries, as well as radiological criteria for CCJ instability. In addition to the structural instability of the CCJ, the hypothesis of its functional form resulting from cervical proprioceptive system (CPS) damage is discussed. Clinical and neurophysiological studies have shown that functional disorders or organic changes in the CPS cause symptoms similar to those of vestibular system diseases: dizziness, nystagmus, and balance disorders. The underlying cause of the functional form of CCJ instability may be the increased activity of mechanoreceptors, leading to “informational noise” which causes vestibular system disorientation. Due to the disharmony of mutual stimulation and the inhibition of impulses between the centers controlling eye movements, the cerebellum, spinal motoneurons, and the vestibular system, inadequate vestibulospinal and vestibulo-ocular reactions occur, manifesting as postural instability, dizziness, and nystagmus. The hyperactivity of craniocervical mechanoreceptors also leads to disturbances in the reflex regulation of postural muscle tone, manifesting as “general instability”. Understanding this form of CCJ instability as a distinct clinical entity is important both diagnostically and therapeutically as it requires different management strategies compared to true instability. Chronic CCJ instability significantly impacts the quality of life (QOL) of affected patients, contributing to chronic pain, psychological distress, and functional impairments. Addressing both structural and functional instability is essential for improving patient outcomes and enhancing their overall QOL. Full article
(This article belongs to the Special Issue Clinical Healthcare and Quality of Life of Chronically Ill Patients)
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10 pages, 616 KiB  
Article
Abnormal Vestibulo–Ocular Reflex Function Correlates with Balance and Gait Impairment in People with Multiple Sclerosis
by Marco Tramontano, Laura Casagrande Conti, Amaranta Soledad Orejel Bustos, Nicola Ferri, Tommaso Lelli, Ugo Nocentini, Maria Grazia Grasso, Andrea Turolla, Paolo Pillastrini and Leonardo Manzari
Audiol. Res. 2024, 14(5), 799-808; https://doi.org/10.3390/audiolres14050067 - 9 Sep 2024
Cited by 3 | Viewed by 3575
Abstract
Background: Multiple Sclerosis (MS) is the most prevalent autoimmune neurological condition in the world, leading to a wide variety of symptoms, including balance disorders. Objective: To evaluate the angular vestibulo–ocular reflex (aVOR) of all six semicircular canals (SCCs) through Head Impulse (HIMP) and [...] Read more.
Background: Multiple Sclerosis (MS) is the most prevalent autoimmune neurological condition in the world, leading to a wide variety of symptoms, including balance disorders. Objective: To evaluate the angular vestibulo–ocular reflex (aVOR) of all six semicircular canals (SCCs) through Head Impulse (HIMP) and Suppression HIMP (SHIMP) paradigms and any correlations with clinical balance scales. Methods: All participants were assessed using the Expanded Disability Status Scale (EDSS), Berg Balance Scale (BBS), and Mini-BESTest (MBT). Vestibular function was measured by video Head Impulse Test (vHIT), obtaining aVOR gain for each SSC. Results: Twenty-seven PwMS (mean age 47.93 ± 8.51 years old, 18 females) were recruited. Most of the patients (81.48%) presented abnormal aVOR gains for at least one SSC. A moderate to strong correlation between aVOR gains of the left anterior SSC and, respectively, the MBT and the BBS was found. The subgroup analysis, based on the EDSS class, confirmed the correlation with the BBS in the patients with the most significant disability. Conclusions: People with MS may present impairments of the aVOR in one or more semicircular canals. The aVOR gain impairment of the vertical semicircular canals correlates with balance and gait disorders identified through clinical scales in PwMS. Full article
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9 pages, 1862 KiB  
Article
The Significance of Off-Season Tailor-Made Baseline Measurements in the Assessment of Post-Concussion in University Athletes
by Kyosuke Goto, Yutaka Shigemori, Yoshitaka Tanabe, Shunya Otsubo, Nana Otsuka, Koki Terada, Rino Tsurusaki, Keita Yamaguchi, Kentaro Masuda, Hiroshi Fukushima, Muneyuki Tachihara, Hironobu Shimozono and Jun Murakami
Brain Sci. 2024, 14(7), 698; https://doi.org/10.3390/brainsci14070698 - 12 Jul 2024
Cited by 1 | Viewed by 1330
Abstract
This study aimed to investigate the significance of baseline measurements for amateur team athletes playing contact and collision team sports with a specific focus on the Sports Concussion Assessment Tool (SCAT) to improve concussion management. Symptoms of sports-related concussions (SRCs) can be diverse [...] Read more.
This study aimed to investigate the significance of baseline measurements for amateur team athletes playing contact and collision team sports with a specific focus on the Sports Concussion Assessment Tool (SCAT) to improve concussion management. Symptoms of sports-related concussions (SRCs) can be diverse and long-lasting and include cognitive impairment, sleep disturbances, and vestibular dysfunction. Therefore, comprehensive baseline data are essential to preventing recurrent concussions and secondary injuries. This study was conducted during the 2023 off-season and evaluated the baseline condition of 65 male university rugby players using the SCAT5, which includes self-reported symptoms, and the modified Balance Error Scoring System (mBESS). The athletes were assessed for the presence or absence of SRC, and the mean values were compared using the Mann–Whitney U test. Among the participants, 35.38% (23/65) reported symptoms, with an average of 1.5 ± 2.8 symptoms per player and an average symptom score of 2.66 ± 5.93. In the mBESS, no errors were observed in the tandem stance test; however, 72.31% (47/65) made errors in the single-leg stance test on the non-dominant foot, with an average of 1.7 ± 1.5 errors. Many athletes self-reported symptoms and balance errors, even during asymptomatic periods before experiencing concussion, indicating unresolved issues. In the injury history survey, the baseline evaluations and injury histories of the participants classified into the SRC and non-SRC groups were compared. In the mBESS single-leg stance test (non-dominant foot), 84.21% (32/38) of the SRC group participants made errors, with an average score of 2.13 ± 1.52, whereas 55.55% (15/27) of the non-SRC group participants made errors, with an average score of 1.15 ± 1.35, showing a significant difference (p = 0.007). Additionally, significant differences were observed in the average number of ankle sprains (p = 0.027) and fractures (p = 0.048) between patients with and without a history of SRC. These findings indicate that athletes may have underlying issues even during normal periods before concussion. Moreover, the results highlighted the impact of previous concussions on motor control and injury risk. This underscores the importance of preseason baseline measurements using the SCAT to identify at-risk athletes and implement preventive measures. These findings align with the recommendations of the 6th International Conference on Concussion in Sport and suggest further refinement of concussion assessment tools. Full article
(This article belongs to the Section Neurosurgery and Neuroanatomy)
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8 pages, 1384 KiB  
Case Report
A Case Report of Malignant Cerebellopontine Angle Lesion Highlighting the Interdisciplinary Diagnostic Challenge in the Case of Unilateral Progressive Hearing Loss
by Riccardo Marzolino, Veronica Castro, Valeria Gambacorta, Eleonora Tonon, Elisabetta Cattaruzzi and Eva Orzan
J. Clin. Med. 2024, 13(12), 3483; https://doi.org/10.3390/jcm13123483 - 14 Jun 2024
Viewed by 1976
Abstract
The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. Methods: The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, [...] Read more.
The authors present the case of a young boy who experienced progressive unilateral hearing loss initially believed to be unrelated to any other medical condition. Methods: The patient received a thorough evaluation, which included a comprehensive battery of audiological tests, a CT scan, and a gadolinium-enhanced MRI. Results: A repeated imaging investigation revealed the presence of a mass that mimicked a vestibular schwannoma (VS), but despite this, the boy was ultimately diagnosed with cerebral manifestations of B-cell acute lymphoblastic leukemia (B-ALL). Conclusions: Cerebral lesions originating from the internal auditory canal are rare in cases of B-ALL. In this case, the initial signs and symptoms of the disease were solely related to the audiovestibular system, making the diagnostic process particularly complicated. Unilateral hearing loss cases may indicate the presence of potentially life-threatening conditions, even if the hearing loss appears to be clinically non-syndromic. For these reasons, unilateral hearing losses necessitate a comprehensive interdisciplinary diagnostic approach from the very start of auditory manifestation and, in particular, if the hearing impairment demonstrates threshold progression. Full article
(This article belongs to the Special Issue Syndromic and Non-syndromic Hearing Loss: From Diagnosis to Treatment)
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11 pages, 873 KiB  
Article
Integrating Ataxia Evaluation into Tumor-Induced Hearing Loss Model to Comprehensively Study NF2-Related Schwannomatosis
by Simeng Lu, Zhenzhen Yin, Jie Chen, Limeng Wu, Yao Sun, Xing Gao, Peigen Huang, Justin T. Jordan, Scott R. Plotkin and Lei Xu
Cancers 2024, 16(11), 1961; https://doi.org/10.3390/cancers16111961 - 22 May 2024
Viewed by 1755
Abstract
NF2-related Schwannomatosis (NF2-SWN) is a disease that needs new solutions. The hallmark of NF2-SWN, a dominantly inherited neoplasia syndrome, is bilateral vestibular schwannomas (VSs), which progressively enlarge, leading to sensorineural hearing loss, tinnitus, facial weakness, and pain that translates to social impairment and [...] Read more.
NF2-related Schwannomatosis (NF2-SWN) is a disease that needs new solutions. The hallmark of NF2-SWN, a dominantly inherited neoplasia syndrome, is bilateral vestibular schwannomas (VSs), which progressively enlarge, leading to sensorineural hearing loss, tinnitus, facial weakness, and pain that translates to social impairment and clinical depression. Standard treatments for growing VSs include surgery and radiation therapy (RT); however, both carry the risk of further nerve damage that can result in deafness and facial palsy. The resultant suffering and debility, in combination with the paucity of therapeutic options, make the effective treatment of NF2-SWN a major unmet medical need. A better understanding of these mechanisms is essential to developing novel therapeutic targets to control tumor growth and improve patients’ quality of life. Previously, we developed the first orthotopic cerebellopontine angle mouse model of VSs, which faithfully mimics tumor-induced hearing loss. In this model, we observed that mice exhibit symptoms of ataxia and vestibular dysfunction. Therefore, we further developed a panel of five tests suitable for the mouse VS model and investigated how tumor growth and treatment affect gait, coordination, and motor function. Using this panel of ataxia tests, we demonstrated that both ataxia and motor function deteriorated concomitantly with tumor progression. We further demonstrated that (i) treatment with anti-VEGF resulted in tumor size reduction, mitigated ataxia, and improved rotarod performance; (ii) treatment with crizotinib stabilized tumor growth and led to improvements in both ataxia and rotarod performance; and (iii) treatment with losartan did not impact tumor growth nor ameliorate ataxia or motor function. Our studies demonstrated that these methods, paired with hearing tests, enable a comprehensive evaluation of tumor-induced neurological deficits and facilitate the assessment of the effectiveness of novel therapeutics to improve NF2 treatments. Full article
(This article belongs to the Special Issue Hot Topics in Neuro-Oncology)
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17 pages, 3424 KiB  
Article
Posterior Semicircular Canal Dehiscence with Vestibulo-Ocular Reflex Reduction for the Affected Canal at the Video-Head Impulse Test: Considerations to Pathomechanisms
by Andrea Castellucci, Georges Dumas, Sawsan M. Abuzaid, Enrico Armato, Salvatore Martellucci, Pasquale Malara, Mohamad Alfarghal, Rosanna Rita Ruberto, Pasquale Brizzi, Angelo Ghidini, Francesco Comacchio and Sébastien Schmerber
Audiol. Res. 2024, 14(2), 317-332; https://doi.org/10.3390/audiolres14020028 - 24 Mar 2024
Cited by 4 | Viewed by 2387
Abstract
Posterior semicircular canal dehiscence (PSCD) has been demonstrated to result in a third mobile window mechanism (TMWM) in the inner ear similar to superior semicircular canal dehiscence (SSCD). Typical clinical and instrumental features of TMWM, including low-frequency conductive hearing loss (CHL), autophony, pulsatile [...] Read more.
Posterior semicircular canal dehiscence (PSCD) has been demonstrated to result in a third mobile window mechanism (TMWM) in the inner ear similar to superior semicircular canal dehiscence (SSCD). Typical clinical and instrumental features of TMWM, including low-frequency conductive hearing loss (CHL), autophony, pulsatile tinnitus, sound/pressure-induced vertigo and enhanced vestibular-evoked myogenic potentials, have been widely described in cases with PSCD. Nevertheless, video-head impulse test (vHIT) results have been poorly investigated. Here, we present six patients with PSCD presenting with a clinical scenario consistent with a TMWM and an impaired vestibulo-ocular reflex (VOR) for the affected canal on vHIT. In two cases, an additional dehiscence between the facial nerve and the horizontal semicircular canal (HSC) was detected, leading to a concurrent VOR impairment for the HSC. While in SSCD, a VOR gain reduction could be ascribed to a spontaneous “auto-plugging” process due to a dural prolapse into the canal, the same pathomechanism is difficult to conceive in PSCD due to a different anatomical position, making a dural herniation less likely. Alternative putative pathomechanisms are discussed, including an endolymphatic flow dissipation during head impulses as already hypothesized in SSCD. The association of symptoms/signs consistent with TMWM and a reduced VOR gain for the posterior canal might address the diagnosis toward PSCD. Full article
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16 pages, 4736 KiB  
Article
A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation
by Yingqiu Peng, Mengya Xiang, Ting Fan, Xiaofang Zhong, Aqiang Dai, Jialing Feng, Pengfei Guan, Jiamin Gong, Jian Li and Yunfeng Wang
Life 2024, 14(1), 33; https://doi.org/10.3390/life14010033 - 25 Dec 2023
Cited by 1 | Viewed by 1822
Abstract
COCH (coagulation factor C homology) is one of the most frequently mutated genes of autosomal dominant non-syndromic hearing loss. Variants in COCH could cause DFNA9, which is characterized by late-onset hearing loss with variable degrees of vestibular dysfunction. In this study, we report [...] Read more.
COCH (coagulation factor C homology) is one of the most frequently mutated genes of autosomal dominant non-syndromic hearing loss. Variants in COCH could cause DFNA9, which is characterized by late-onset hearing loss with variable degrees of vestibular dysfunction. In this study, we report a Chinese family with a novel COCH variant (c.1687delA) causing p.D544Vfs*3 in the cochlin. Comprehensive audiometric tests and vestibular function assessments were taken to acquire the phenotypic profile of the subjects. Next-generation sequencing was conducted and segregation analysis was carried out using Sanger sequencing. The proband presented mild vestibular symptoms and normal functional assessment results in almost every test, while the variant co-segregated with hearing impairment in the pedigree. The variant was located beyond the vWFA2 domain, which was predicted to affect the post-translational cleavage of the cochlin via molecular modeling analysis. Notably, in the overexpressing study, by transient transfecting the HEK 293T cells, we found that the p.D544Vfs*3 variant increased the formation of multimeric cochlin. Our result enriched the spectrum of DFNA9-linked pathological COCH variants and suggested that variants, causative of cochlin multimerization, could be related to DFNA9 with sensorineural hearing loss rather than serious vestibular symptoms. Full article
(This article belongs to the Special Issue Diagnosis and Rehabilitation of Hearing Loss)
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Article
Functional Dizziness as a Spatial Cognitive Dysfunction
by Hayo A. Breinbauer, Camilo Arévalo-Romero, Karen Villarroel, Claudio Lavin, Felipe Faúndez, Rosario Garrido, Kevin Alarcón, Ximena Stecher, Francisco Zamorano, Pablo Billeke and Paul H. Delano
Brain Sci. 2024, 14(1), 16; https://doi.org/10.3390/brainsci14010016 - 23 Dec 2023
Cited by 3 | Viewed by 4410
Abstract
(1) Background: Persistent postural-perceptual dizziness (PPPD) is a common chronic dizziness disorder with an unclear pathophysiology. It is hypothesized that PPPD may involve disrupted spatial cognition processes as a core feature. (2) Methods: A cohort of 19 PPPD patients underwent psycho-cognitive testing, including [...] Read more.
(1) Background: Persistent postural-perceptual dizziness (PPPD) is a common chronic dizziness disorder with an unclear pathophysiology. It is hypothesized that PPPD may involve disrupted spatial cognition processes as a core feature. (2) Methods: A cohort of 19 PPPD patients underwent psycho-cognitive testing, including assessments for anxiety, depression, memory, attention, planning, and executive functions, with an emphasis on spatial navigation via a virtual Morris water maze. These patients were compared with 12 healthy controls and 20 individuals with other vestibular disorders but without PPPD. Vestibular function was evaluated using video head impulse testing and vestibular evoked myogenic potentials, while brain magnetic resonance imaging was used to exclude confounding pathology. (3) Results: PPPD patients demonstrated unique impairments in allocentric spatial navigation (as evidenced by the virtual Morris water maze) and in other high-demand visuospatial cognitive tasks that involve executive functions and planning, such as the Towers of London and Trail Making B tests. A factor analysis highlighted spatial navigation and advanced visuospatial functions as being central to PPPD, with a strong correlation to symptom severity. (4) Conclusions: PPPD may broadly impair higher cognitive functions, especially in spatial cognition. We discuss a disruption in the creation of enriched cognitive spatial maps as a possible pathophysiology for PPPD. Full article
(This article belongs to the Special Issue Vertigo and Dizziness: Central Vestibular Disorders)
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