Dizziness in Primary Care.

Dizziness is a prevalent symptom in the general population and is among the most common reasons patients present for medical evaluations. This article focuses on high yield information to support primary clinicians in the efficient and effective evaluation and management of dizziness. Key points are as follows: do not anchor on the type of dizziness symptom, do use symptom timing and prior medical history to inform diagnostics probabilities, do evaluate for hallmark examination findings of vestibular disorders, and seek out opportunities to deliver evidence-based interventions particularly the canalith repositioning maneuver and gaze stabilization exercises.

Epidemiology and Comorbidities of Vestibular Disorders: Preliminary Findings of the AVOCADO Study.

INTRODUCTION: Studies on incidence and prevalence of vestibular disorders tend to focus on small pockets of patients recruited from specialized clinics and often exclude measures of vestibular function. The objectives of the study were to characterize patients with common vestibular disorders, estimate the prevalence of common vestibular disorders, and ascertain whether patients with vestibular disorders experience increased risks of falls and morbidity. MATERIALS AND METHODS: This retrospective cohort study includes both inpatient and outpatient routine clinical care data culled from a nationally representative, population-based sample. Patients were included if their record in the TriNetX Diamond Cohort comprised at least one vestibular function test or vestibular diagnosis. The main outcome measures were diagnosis with a vestibular disorder, a fall, or a common medical comorbidity (e.g., diabetes, cerebrovascular disease). RESULTS: The cohort includes n = 4,575,724 patients, of which 55% (n = 2,497,136) had a minimum of one vestibular diagnosis. Patients with vestibular diagnoses were 61.3 ± 16.6 years old (mean ± standard deviation), 67% women, 28% White race (69% unknown race), and 30% of non-Hispanic or Latino ethnicity (66% unknown ethnicity). The prevalence of vestibular disorders was estimated at 2.98% (95% confidence interval [CI]: 2.98-2.98%). Patients with vestibular diagnoses experienced a significantly greater odds of falls (odds ratio [OR] = 1.04; 95% CI: 1.02-1.05), cerebrovascular disease (OR = 1.42; 95% CI: 1.40-1.43), ischemic heart disease (OR = 1.17; 95% CI: 1.16-1.19), and diabetes (OR = 1.14; 95% CI: 1.13-1.15), among others. DISCUSSION: Vestibular disorders affect an estimated 3% of the U.S. population, after weighting. Patients with these disorders are at greater risk for many common, consequential medical conditions.

Impact of Migraine and Vestibular Migraine on Audiometric Profiles and Quality of Life in Patients With Tinnitus.

OBJECTIVE: To investigate the clinical manifestations and complete auditory function in primary tinnitus patients with and without migraine or vestibular migraine. DESIGN: Retrospective case-control study. SETTING: A tertiary referral center. PARTICIPANTS: This study enrolled 298 patients from the Kaohsiung Veterans General Hospital. All patients were diagnosed with primary tinnitus by a neurotologist between April 2020 and August 2021. Patients were excluded if they had histories of chronic otitis media, idiopathic sudden sensorineural hearing loss, Ménière's disease, skull base neoplasm, or temporal bone trauma. INTERVENTIONS: Twenty-five-item Tinnitus Handicap Inventory (THI), speech audiometry including speech recognition threshold, most comfortable level, uncomfortable loudness levels, dynamic range, and pure-tone audiometry. MAIN OUTCOMES MEASURES: Objective hearing loss is defined as a mean threshold greater than 25 dB. Extremely elevated THI is defined as a score greater than 1 standard deviation above the mean THI. RESULTS: Among the 298 patients with tinnitus, 149 were women and 149 were men, with a mean age of 57.06 (range, 19.22-94.58) years.A total of 125 patients completed the THI questionnaire during their initial visit. The median THI score was 32 (95% confidence interval: 13.98-56.00), and the mean score was 34.99 with a standard deviation of 21.01. The sole contributing factor significantly associated with higher total THI score was the diagnosis of migraine or vestibular migraine (p < 0.001, odds ratio = 19.41).Tinnitus patients with migraine or vestibular migraine exhibited significantly lower mean pure-tone auditory thresholds (right 22.2 versus 29.5, p = 0.002; left 22.5 versus 30.4, p < 0.001), speech recognition threshold (right 20.0 versus 25.2, p = 0.016; left 20.2 versus 25.5, p = 0.019), and most comfortable levels values (right 46.1 versus 51.4, p = 0.007; left 46.9 versus 51.4, p = 0.021) compared with the tinnitus patients without migraine. CONCLUSIONS: In this population-based study, patients with primary tinnitus experienced significantly higher THI scores and exhibited concurrent symptoms, including dizziness/vertigo, cervicalgia, and migraine or vestibular migraine. Among these parameters, the diagnosis of migraine or vestibular migraine was the sole contributor to significant higher THI score.

Primary contact physiotherapy for patients with suggested vestibulopathy for an Australian ENT clinic: a retrospective cohort study.

OBJECTIVE: To examine the newly established role of a primary contact physiotherapist in an ENT clinic, in an Australian cohort and context, over two phases of development. METHODS: A retrospective cohort study was conducted with data collected from a medical record audit. Over the study duration, the primary contact physiotherapist completed initial appointments with patients; follow-up appointments were subsequently conducted by medical staff. RESULTS: There was a 46 per cent reduction in patients with suggested vestibulopathy requiring an ENT medical review. This reduction could hypothetically increase to 71 per cent with follow-up primary contact physiotherapist appointments. Improvements in the service delivery model and a primary contact physiotherapist arranging diagnostic assessments could improve waitlist times and facilitate better utilisation of medical staff time. CONCLUSION: The primary contact physiotherapist can help in the management of patients with suspected vestibulopathy on an ENT waitlist. This is achieved through: a reduction of patients requiring ENT review, improvements to waitlist time and improved utilisation of medical specialists' time.

Pitfalls, patience and patients: developing a physiotherapy-led balance clinic.

BACKGROUND: Balance dysfunction and vestibular conditions are major problems requiring significant resources. There is significant national and international variation in management pathways for such patients. METHODS: This paper outlines a collaborative project run by the ENT department and two vestibular rehabilitation trained physiotherapists to establish a clinic to manage patients referred to ENT with vestibular and/or balance complaints. As part of a six-month pilot, two physiotherapy-led balance clinics were provided per week. RESULTS: A total of 159 new patients were seen, with only 15 needing ENT consultant input. This led to the successful creation of substantive posts; the clinic has seen 698 patients in its first two years. CONCLUSION: Patient outcomes and experience have been positive, and accompanied by reduced waiting and in-service times. The authors discuss some of the pitfalls, challenges and opportunities of developing this type of clinic.

Use of the Head Impulse, Nystagmus, Test of Skew ('HINTS') assessment to aid differential diagnosis in acute vestibular syndrome in the hyperacute stroke setting.

BACKGROUND: Differential diagnosis of acute vertigo syndrome is challenging given the similarities between clinical presentations of posterior circulation stroke and peripheral vestibular dysfunction. The Head Impulse, Nystagmus, Test of Skew ('HINTS') assessment is a clinical bedside test used to aid diagnosis. METHODS: Comprehensive training on use of the Head Impulse, Nystagmus, Test of Skew assessment was provided to one stroke consultant, and the effectiveness of the test in that setting was assessed. Further education was completed with more members of the stroke and emergency department multi-disciplinary team. Quality improvement measures including magnetic resonance imaging use and bed utilisation were explored. RESULTS: Following training of one stroke consultant, the Head Impulse, Nystagmus, Test of Skew assessment was found to be a feasible, accurate bedside test within this acute stroke service. Further training for the multi-disciplinary team was completed, but outcome measures were not explored because of the coronavirus disease 2019 pandemic and maternity leave. CONCLUSION: There is a role for trained members of the multi-disciplinary team to successfully use the Head Impulse, Nystagmus, Test of Skew assessment in hyperacute stroke settings, to aid diagnosis in acute vertigo syndrome.

Introduction to the assessment and management of persistent postural-perceptual dizziness.

OBJECTIVE: Persistent postural-perceptual dizziness classifies patients with chronic dizziness, often triggered by an acute episode of vestibular dysfunction or threat to balance. Unsteadiness and spatial disorientation vary in intensity but persist for over three months, exacerbated by complex visual environments. METHOD: Literature suggests diagnosis relies on a clinical history of persistent subjective dizziness and normal vestibular and neurological examination findings. Behavioural diagnostic biomarkers have been proposed, to facilitate diagnosis. RESULTS: Research has focused on understanding the neural mechanisms that underpin this perceptual disorder, with imaging data supporting altered connectivity between neural brain networks that process vision, motion and emotion. Behavioural research identified the perceptual and motor responses to a heightened perception of imbalance. CONCLUSION: Management utilises head and body motion detection, and downregulation of visual motion excitability, reducing postural hypervigilance and anxiety. Combinations of physical and cognitive therapies, with antidepressant medications, help if the condition is associated with mood disorder.

Vestibular Impairment and Postural Development in Children With Bilateral Profound Hearing Loss.

Importance: Children with profound hearing loss (HL) and vestibular impairment have worse cochlear implant outcomes compared with those without vestibular impairment. However, the decision for cochlear implantation is rarely based on vestibular function assessment as a complement to audiologic testing. Objectives: To identify the prevalence of vestibular impairment according to HL origin and to assess the association between vestibular impairment and delayed posturomotor development in children with profound HL. Design, Setting, and Participants: This cohort study was conducted in a pediatric referral center for cochlear implantation in Paris, France, using medical records data on HL origin, vestibular assessment, and ages of developmental milestone achievement. The cohort included children with profound HL (loss >90 dB HL) who completed vestibular assessment prior to cochlear implantation between January 1, 2009, and December 31, 2019. Data analyses were conducted between January and June 2023. Main Outcomes and Measures: The primary outcome was prevalence of vestibular impairment according to HL origin. Children were classified into 3 groups according to their responses to vestibular testing: normal vestibular function (NVF), partially impaired vestibular function (PVF), and complete bilateral vestibular loss (CBVL). Generalized logit models were performed to evaluate the association between vestibular impairment and causes of HL as well as posturomotor development delay. Results: A total of 592 children were included (308 males [52.0%]; mean [SD] age, 38 [34] months). In children with documented HL origin (n = 266), 45.1% (120) had HL with genetic origin, 50.0% of which were syndromic (mainly Usher and Waardenburg syndromes) and 50.0% were nonsyndromic (mainly associated with connexin 26). Among patients with infectious HL origin (n = 74), 70.3% (52) had cytomegalovirus (CMV) infection. Vestibular impairment was found in 44.4% (263 of 592) of the children; it was mostly symmetrical in 88.9% (526) and was CBVL in 5.7% (34) of the cases. Vestibular impairment was present in 78.3% (47) of children with genetic syndromic HL (56.7% [34] with PVF; 21.7% [13] with CBVL) and in 69.2% (36) of children with CMV infection (57.7% [30] with PVF; 11.5% [6] with CBVL). Genetic syndromic HL origin was found to be more often associated with both PVF and CBVL than other HL causes. The odds of having delays in 4 developmental milestones (head holding, sitting, standing with support, and independent walking) were higher in both PVF and CBVL (eg, head-holding odds ratios: 2.55 and 4.79) compared with NVF, and the age of achieving these milestones was higher in CBVL than PVF (eg, head holding: 7.33 vs 4.03 years; P < .001). All 4 developmental milestones were associated with the degree of vestibular impairment. Conclusions and Relevance: This cohort study found that among children with profound HL, vestibular impairment was prevalent, varied according to HL origin, and associated with posturomotor development; while all developmental milestones were associated with vestibular impairment severity, not all HL causes were associated with vestibular impairment severity. Children with profound HL may benefit from complete vestibular assessment before cochlear implantation, which would support early and adapted management, such as physical therapy for CBVL and cochlear implantation strategy.

KMT2D regulates activation, localization, and integrin expression by T-cells.

Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up on our prior report of KMT2D-altered integrin expression in B-cells, we performed targeted analyses of KMT2D's influence on integrin expression in T-cells throughout development (thymocytes through peripheral T-cells) in murine cells with constitutive- and conditional-targeted Kmt2d deletion. Using high-throughput RNA-sequencing and flow cytometry, we reveal decreased expression (both at the transcriptional and translational levels) of a cluster of leukocyte-specific integrins, which perturb aspects of T-cell activation, maturation, adhesion/localization, and effector function. H3K4me3 ChIP-PCR suggests that these evolutionary similar integrins are under direct control of KMT2D. KMT2D loss also alters multiple downstream programming/signaling pathways, including integrin-based localization, which can influence T-cell populations. We further demonstrated that KMT2D deficiency is associated with the accumulation of murine CD8+ single-positive (SP) thymocytes and shifts in both human and murine peripheral T-cell populations, including the reduction of the CD4+ recent thymic emigrant (RTE) population. Together, these data show that the targeted loss of Kmt2d in the T-cell lineage recapitulates several distinct features of Kabuki syndrome-associated immune deficiency and implicates epigenetic mechanisms in the regulation of integrin signaling.

Effectiveness of vestibular rehabilitation on postural balance in Parkinson's disease: a systematic review and meta-analysis of randomized controlled trials.

INTRODUCTION: Postural balance impairment can affect the quality of life of patients with Parkinson's disease. Previous studies have described connections of the vestibular system with postural functions, suggesting a potential participation of the basal ganglia in receiving vestibular stimuli. This systematic review aims to summarize the evidence on the effectiveness of vestibular rehabilitation on postural balance in patients with Parkinson's disease. METHODS: A systematic review was conducted using the electronic databases: PubMed, Embase, Scopus and PEDro. The study selection was independently conducted by two reviewers, and disagreements were evaluated by a third reviewer. The included studies had no restrictions on publication dates or languages and the last update occurred in July 2023. RESULTS: From the 485 studies found in the searches, only 3 studies were deemed eligible for the systematic review involving a total of 130 participants. The Berg Balance Scale was described as the tool for evaluation of postural balance in all studies. The meta-analysis showed statistically significant results in favor of vestibular rehabilitation (MD = 5.35; 95% CI = 2.39, 8.31; P < 0.001), regardless of the stage of Parkinson's disease. Although the effect size was suggested as a useful functional gain, the analysis was done with caution, as it only included 3 randomized controlled trials. The risk of bias using the RoB-2 was considered as being of "some concern" in all studies. Furthermore, the quality of the evidence based on the Grading of Recommendations Assessment Development and Evaluation system, produced by pooling the included studies was considered very low. CONCLUSION: Compared to other interventions, vestibular rehabilitation has potential to assist the postural balance of patients with Parkinson's disease. However, the very low quality of the evidence demonstrates uncertainty about the impact of this clinical practice. More robust studies are needed to confirm the benefits of this therapy in patients with Parkinson's disease. This study was prospectively registered in PROSPERO: CRD42020210185.

Aberrant cerebral blood flow and functional connectivity in patients with vestibular migraine: a resting-state ASL and fMRI study.

BACKGROUND: Prior neuroimaging studies on vestibular migraine (VM) have extensively certified the functional and structural alterations in multiple brain regions and networks. However, few studies have assessed the cerebral blood flow (CBF) in VM patients using arterial spin labeling (ASL). The present study aimed to investigate CBF and functional connectivity (FC) alterations in VM patients during interictal periods. METHODS: We evaluated 52 VM patients and 46 healthy controls (HC) who received resting-state pseudo-continuous ASL and functional magnetic resonance imaging (fMRI) scanning. Comparisons of voxel-based CBF and seed-based FC were performed between the two groups. Brain regions showed significant group differences in CBF analyses were chosen as seeds in FC analyses. Additionally, the associations between abnormal imaging results and clinical features were explored. RESULTS: Compared with HC, VM patients showed higher normalized CBF in the right precentral gyrus (PreCG), left postcentral gyrus (PostCG), left superior frontal gyrus and bilateral insular (p < 0.05, FDR corrected). Furthermore, VM patients exhibited increased FC between the right PreCG and areas of the left PostCG, left cuneus and right lingual gyrus (p < 0.05, FDR corrected). In addition, we observed decreased FC between the left insular and regions of the left thalamus and right anterior cingulate cortex, as well as increased FC between the left insular and right fusiform gyrus in VM patients (p < 0.05, FDR corrected). Moreover, these variations in brain perfusion and FC were significantly correlated with multiple clinical features including frequency of migraine symptoms, frequency of vestibular symptoms and disease duration of VM (all p < 0.05). CONCLUSIONS: Patients with VM during interictal period showed hyperperfusion and abnormal resting-state FC in brain regions potentially contributed to disrupted multi-sensory and autonomic processing, as well as impaired ocular motor control, pain modulation and emotional regulation. Our study provided novel insights into the complex neuropathology of VM from a CBF perspective.

Guidelines of the French Society of Otorhinolaryngology and Head and Neck Surgery (SFORL) for vestibular rehabilitation in children with vestibular dysfunction. A systematic review.

INTRODUCTION: The consequence of complete or partial uncompensated vestibular dysfunction in children is usually balance disorders, with the risk of falls and increased fatigue, particularly during tasks requiring postural control. The aim of these recommendations is to establish guidelines for vestibular rehabilitation (VR) in children with vestibular impairment. MATERIAL AND METHODS: The guidelines were developed based on a systematic review of the international literature, validated by a multidisciplinary group of French-speaking otorhinolaryngologists, scientists, and physiotherapists. They are classified as grade A, B, C, or expert opinion according to a decreasing level of scientific evidence. RESULTS: A PubMed search of studies published between January 1990 and December 2021 was carried out using the keywords "vestibular," "rehabilitation," and "children". After filtering and reviewing the articles, a total of 10 publications were included to establish the recommendations. CONCLUSION: It is recommended that a vestibular assessment be carried out before VR, including a study of vestibulo-ocular reflex, otolithic function, and postural control. In cases of vestibular dysfunction, physiotherapy treatment is recommended from an early age to train different aspects of postural control, including anticipatory and reactive postural adjustments. VR adapted to the pediatric population is recommended for children whose vestibular dysfunction leads to functional disorders or symptoms of vertigo for those who have suffered head trauma. It is recommended that children with bilateral vestibular impairment be treated using gaze stabilization exercises for adaptation and substitution. Optokinetic stimulation and virtual reality are not recommended for children and young adolescents.

Balance performance, falls-efficacy and social participation in patients with type 2 diabetes mellitus with and without vestibular dysfunction.

Background: The performance of balance is an important factor to perform activities. The complications of type 2 diabetes mellitus (T2DM), especially vestibular dysfunction (VD), could decrease balance performance and falls-efficacy (FE) which consequently impacts social participation and quality of life (QoL). Purpose: This study aimed to compare balance performance, FE, social participation and QoL between individuals with T2DM with and without VD. Methods: The participants comprised 161 T2DM with VD and 161 without VD. Three clinical tests used for confirming VD included the Head Impulse Test (HIT), the Dix Hallpike Test (DHT) and the Supine Roll Test (SRT). The scores of static and dynamic balances, FE, social participation and QoL were compared between groups. Results: The balance performance, FE, social participation and QoL were lower in the group with VD. The number of patients who had severe social restriction was higher in T2DM with VD than without VD (58.4% vs 48.4%). Moreover, all domains of QoL (physical, psychological, social relationships and environmental) were lower in T2DM with VD than without VD. Conclusion: The presence of VD in T2DM patients was associated with decreased physical balance performances and increased social and QoL disengagement. Comprehensive management related to balance and FE, as well as the monitoring to support social participation and QoL, should be emphasized in patients with T2DM with VD.

Vestibular Rehabilitation: Intelligent or Traditional?

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[Expert consensus on vestibular rehabilitation in vestibular disorders].

Vestibular rehabilitation therapy (VRT) is a highly effective treatment approach for addressing both peripheral and central vestibular disorders, offering the ability to significantly improve patients' coordination and control across the vestibular, visual, and proprioceptive systems, all of which are crucial factors in maintaining balance. By promoting vestibular compensation, VRT has been shown to mitigate or even eliminate symptoms of dizziness, vertigo, and instability. With the rapid development of vestibular research, VRT has evolved into a more individualized and precise treatment approach based on evidence-based medicine. Its clinical effectiveness has been increasingly validated in numerous studies. With the involvement of multidisciplinary experts, this article aims to reach a consensus on the pre-treatment evaluation, formulation/implementation of treatment plans, and evidence-based treatment recommendations for common vestibular disorders, focusing on the prospects of vestibular rehabilitation. The goal is to further standardize and update VRT protocols for different vestibular disorders, providing comprehensive and context-specific guidance primarily tailored to the Chinese healthcare landscape, with a notable emphasis on its clinical applicability. Concurrently, it aspires to present new insights and serve as a valuable reference point for forthcoming high-quality clinical research on vestibular rehabilitation in China.

[Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].

OBJECTIVE: To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. METHODS: Four children with KS diagnosed at the Children's Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis. RESULTS: The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c.16472_16473del, c.858dup, c.11899C>T, and c.12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. CONCLUSION: For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).

Kabuki Syndrome (KS) is a multisystemic genetic disorder. A portion of patients has immunological manifestations characterized by increased susceptibility to infections and autoimmunity. Aiming to describe the clinical and laboratory immunological aspects of KS, we conducted a retrospective multicenter observational study on patients with KS treated in centers affiliated to the Italian Primary Immunodeficiency Network.Thirty-nine patients were enrolled, with a median age at evaluation of 10 years (range: 3 m-21y). All individuals had organ malformations of variable severity. Congenital heart defect (CHD) was present in 19/39 patients (49%) and required surgical correction in 9/39 (23%), with associated thymectomy in 7/39 (18%). Autoimmune cytopenia occurred in 6/39 patients (15%) and was significantly correlated with thymectomy (p < 0.002), but not CHD. Individuals with cytopenia treated with mycophenolate as long-term immunomodulatory treatment (n = 4) showed complete response. Increased susceptibility to infections was observed in 22/32 patients (69%). IgG, IgA, and IgM were low in 13/29 (45%), 13/30 (43%) and 4/29 (14%) patients, respectively. Immunoglobulin substitution was required in three patients. Lymphocyte subsets were normal in all patients except for reduced naïve T-cells in 3/15 patients (20%) and reduced memory switched B-cells in 3/17 patients (18%). Elevated CD3 + TCRαß + CD4-CD8-T-cells were present in 5/17 individuals (23%) and were correlated with hematological and overall autoimmunity (p < 0.05).In conclusion, immunological manifestations of KS in our cohort include susceptibility to infections, antibody deficiency, and autoimmunity. Autoimmune cytopenia is correlated with thymectomy and elevated CD3 + TCRαß + CD4-CD8-T-cells, and benefits from treatment with mycophenolate.