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1.
Aging Clin Exp Res ; 36(1): 128, 2024 Jun 10.
Article En | MEDLINE | ID: mdl-38856860

BACKGROUND: Balance disorders can give rise to sensations of instability, lightheadedness, vertigo, disequilibrium, or syncope, ultimately leading to grave medical, physical, emotional, and societal ramifications. These conditions are highly prevalent among individuals aged 40 and above. Screen time encompasses activities associated with television viewing, video game playing, and non-work-related computer usage. Prolonged screen exposure may engender a spectrum of health issues and even elevate overall mortality rates. However, the available evidence on the potential link between excessive screen time and balance dysfunction remains limited. AIMS: The primary aim of this study was to explore the possible association between prolonged screen exposure and impaired balance function. METHODS: This cross-sectional study utilized data from participants who completed a comprehensive questionnaire in the NHANES database between 1999 and 2002, all of whom were aged over 40 and under 85 years. Participants' screen time was categorized into two groups (< 4 h/d and ≥4 h/d) for subsequent data analysis. Logistic regression, combined with propensity score matching (PSM), was employed to investigate the correlation between screen time and balance disorders. RESULTS: A total of 5176 participants were enrolled in this study, comprising 2,586 men and 2,590 women, with a prevalence rate of balance disorders at 25.7% (1331/5176). The incidence of balance disorders was found to be significantly higher among individuals who spent 4 hours or more per day on screen time compared to those with less screen time (P<0.001). Multivariate logistic analysis conducted on the unmatched cohort revealed a significant association between screen time and balance disorders, with an odds ratio (OR) 1.8 (95%CI 1.57 ∼ 2.05). These findings remained consistent even after adjusting for confounding factors, yielding an OR 1.43 (95%CI 1.24 ∼ 1.66). Moreover, the association persisted when employing various multivariate analyses such as propensity score matching adjusted model, standardized mortality ratio weighting model and pairwise algorithmic model; all resulting in ORs ranging from 1.38 to 1.43 and p-values < 0.001. CONCLUSIONS: After controlling for all covariates, screen time (watching TV, playing video games, and using computers outside of work) was associated with balance dysfunction among middle-aged and older adults. This finding may offer a possible idea for the prevention of dizziness and balance disorders. Nevertheless, additional research is imperative to further validate these results.


Nutrition Surveys , Postural Balance , Screen Time , Self Report , Humans , Male , Female , Middle Aged , Aged , Cross-Sectional Studies , Postural Balance/physiology , Adult , Aged, 80 and over , Sensation Disorders/epidemiology , Prevalence , Video Games , United States/epidemiology
2.
Am J Occup Ther ; 78(4)2024 Jul 01.
Article En | MEDLINE | ID: mdl-38805003

IMPORTANCE: Research is limited regarding parent-caregiver perspectives of occupational therapy (OT) intervention for children with challenges in sensory processing and integration and whether changes immediately following OT intervention are sustained over time. OBJECTIVE: To evaluate whether changes in identified goals are maintained following OT intervention and to determine what aspects of OT intervention parents-caregivers perceive to be most valuable. DESIGN: A mixed-methods research design. SETTING: A large midwestern pediatric hospital, with follow-up telephone interviews with parents-caregivers. PARTICIPANTS: Sixteen children with sensory challenges and their parents-caregivers. INTERVENTION: Children participated in 1-hr OT intervention sessions, 3 days per wk, for 6 to 7 wk. Parents-caregivers of children who completed OT intervention were interviewed via the telephone 6 to 12 mo after the intervention. OUTCOMES AND MEASURES: The Canadian Occupational Performance Measure (COPM) and Goal Attainment Scaling (GAS) were used to determine whether changes were made and sustained over time. Qualitative data on caregiver perceptions of OT intervention were collected via open-ended questions during phone interviews. COPM and GAS scores before intervention were statistically significant compared with scores immediately following intervention and at 6- to 12-mo follow-up. Five themes emerged from the qualitative data. CONCLUSIONS AND RELEVANCE: Children with sensory challenges made significant changes related to occupational performance following OT intervention, and goal achievement was sustained over time. Parents-caregivers valued many aspects of the OT program, including the increased frequency of therapy services, the occupational therapist's advanced knowledge and skills, and the education and information provided during the program. Plain-Language Summary: This study supports the results of previous studies on OT intervention for children with challenges in sensory processing and integration. The study also adds to the body of knowledge that shows that changes and progress toward goals that result from skilled OT intervention can be sustained over time. The study showed that children participating in OT intervention made statistically significant changes while receiving OT services and maintained progress after intervention ended; however, the children did not continue to make significant progress toward goals once skilled OT services ended. Parents and caregivers of children with sensory challenges reported that they found OT intervention to be beneficial. Other important factors influencing the effectiveness of OT intervention that were identified by parents-caregivers included the education provided by the occupational therapist, the increased frequency of therapy services, and the increased knowledge and skills of the occupational therapists who provided the intervention.


Occupational Therapy , Parents , Humans , Occupational Therapy/methods , Male , Female , Child , Child, Preschool , Caregivers , Sensation Disorders/rehabilitation , Goals
3.
Front Public Health ; 12: 1371825, 2024.
Article En | MEDLINE | ID: mdl-38699422

Aims: To investigate the association between socioeconomic position (SEP) and sensory impairments (SIs). Methods: We used data from the China Health and Retirement Longitudinal Study (CHARLS) (2015). Logistic regressions estimated the odds ratio for associations of SEP with SIs. In addition, Mendelian randomization (MR) analysis was conducted to assess the causal relationship between them with the inverse variance weighting (IVW) estimator. MR-Egger, simple median, weighted median, maximum likelihood, and robust adjusted profile score were employed for sensitivity analyses. Results: In the observational survey, we enrolled 19,690 individuals aged 45 and above. SEP was negatively associated with SIs. Adjusted odds of vision impairment were higher for illiterate (1.50; 95%CI: 1.19, 1.91), less than elementary school diploma (1.76; 95%CI: 1.39, 2.25), middle school diploma (1.53; 95%CI: 1.21, 1.93) and lower income (all p < 0.001). The odds of hearing impairment were significantly higher for people with less than a high school diploma than those with a college degree or higher diploma, for agricultural workers than non-agricultural workers, and for people in low-income families (p < 0.01). The MR analysis also showed that occupation was associated with HI (1.04, 95%CI: 1.01, 1.09, p < 0.05) using IVW. Conclusion: We found that both observational and causal evidence supports the theory that SEP can result in SIs and that timely discovery, targeted management, and education can prevent SIs among middle-aged and older adults.


Mendelian Randomization Analysis , Humans , China/epidemiology , Male , Female , Middle Aged , Aged , Longitudinal Studies , Social Class , Sensation Disorders/epidemiology , Socioeconomic Factors , East Asian People
4.
Res Dev Disabil ; 149: 104742, 2024 Jun.
Article En | MEDLINE | ID: mdl-38678875

BACKGROUND: Autistic features and sensory processing difficulties and their phenotypic co-expression with alexithymia share a transdiagnostic vulnerability. In this work, we explored whether the current concept of broad autism phenotype rather translates altered sensory processing (non-specific to autism), meaning that the characteristics of altered sensory processing should be overexpressed among individuals with heightened vulnerability to sensory processing atypicalities (parents of children with sensorial processing disorder, or SPD parents) and individuals with heightened vulnerability to autistic traits (parents of children with autism spectrum disorders, or ASD parents). In addition, the association between altered sensory processing and alexithymia was inspected. METHOD: The Adolescent/Adult Sensory Profile, Autism Spectrum Quotient, and Toronto Alexithymia Scale were completed by 31 parents of children with ASD, 32 parents of children with SPD, and 52 parents of typically developed (TD) children. RESULTS: Extreme sensory patterns were overexpressed both in parents of children with SPD and parents of children with ASD when compared to parents of TD children. In addition, extreme sensory patterns were significantly associated with alexithymia scores. Specifically, sensory avoidance, low registration, and sensory sensitivity were positively correlated with alexithymia. No significant differences were found regarding the proportion of autistic traits and alexithymia between ASD and SPD groups of parents. CONCLUSIONS: These results challenge the specificity of broad autism phenotype and suggest a neurodevelopmental atypicity with roots in altered sensory and emotional processing.


Affective Symptoms , Autism Spectrum Disorder , Parents , Humans , Affective Symptoms/physiopathology , Affective Symptoms/psychology , Autism Spectrum Disorder/psychology , Autism Spectrum Disorder/physiopathology , Male , Female , Parents/psychology , Child , Adolescent , Adult , Sensation Disorders/physiopathology , Sensation Disorders/psychology , Case-Control Studies , Middle Aged
5.
Nutrients ; 16(8)2024 Apr 19.
Article En | MEDLINE | ID: mdl-38674899

We report on a group of patients with gluten sensitivity with and without coeliac disease presenting with unexplained sensory symptoms in the absence of structural pathology. METHODS: The patients were selected from the gluten neurology clinic based at the Royal Hallamshire Hospital, Sheffield, UK, on the basis of sensory symptoms but normal neuroaxis imaging and peripheral nerve evaluation. RESULTS: A total of 30 patients were identified with a mean age at presentation of 47 years. The prevalence of enteropathy was 78%. The sensory disturbance was characterised by tingling at 50%, numbness at 27%, pain at 20%, burning at 13% and "buzzing" feeling at 7%. The distribution of the sensory symptoms included hands and feet in 27% of the patients, torso in 27%, legs only in 23%, face in 17% and arms only in 10%. For five patients, the sensory disturbance was migratory and affected different parts of the body at any given time. After the introduction of a gluten-free diet, 77% of patients noted significant improvement in their sensory symptoms. In one-third of the patients, there was a complete resolution of the sensory symptoms. CONCLUSION: Unexplained sensory symptoms can be seen in patients with gluten sensitivity and respond to strict adherence to a gluten-free diet.


Celiac Disease , Diet, Gluten-Free , Glutens , Humans , Middle Aged , Male , Female , Celiac Disease/diet therapy , Celiac Disease/complications , Glutens/adverse effects , Adult , Aged , Sensation Disorders/etiology , Young Adult
6.
BMC Public Health ; 24(1): 1102, 2024 Apr 22.
Article En | MEDLINE | ID: mdl-38649854

BACKGROUND: To determine the prevalence, risk factors; and impact on patient health and economic outcomes across the laterality spectrum of multiple sensory impairment (MSI) in a multi-ethnic older Asian population. METHODS: In this population-based study of Singaporeans aged ≥ 60 years, MSI was defined as concomitant vision (visual acuity > 0.3 logMAR), hearing (pure-tone air conduction average > 25 dB), and olfactory (score < 12 on the Sniffin' Sticks test) impairments across the spectrum of laterality (any, unilateral, combination [of unilateral and bilateral], and bilateral). RESULTS: Among 2,057 participants (mean ± SD 72.2 ± 0.2 years; 53.1% female), the national census-adjusted prevalence rates of any, unilateral, combination, and bilateral MSI were 20.6%, 1.2%, 12.2%, and 7.2%, respectively. Older age, male gender, low socioeconomic status (SES), and smoking (all p < 0.05) were independently associated with higher likelihood of any MSI. Compared to those with no sensory loss, those with MSI had significantly decreased mobility (range 5.4%-9.2%), had poor functioning (OR range 3.25-3.45) and increased healthcare costs (range 4-6 folds) across the laterality spectrum. Additionally, bilateral MSI had a significant decrease in HRQoL (5.5%, p = 0.012). CONCLUSIONS: MSI is a highly prevalent medical condition, with 1 in 5; and almost 1 in 10 community-dwelling older Asians having any and bilateral MSI, respectively, with a higher likelihood in men, smokers, and those with low SES. Critically, MSI has a substantial negative impact on patient health and economic outcomes across the laterality spectrum. Sensory testing is critical to detect and refer individuals with MSI for management to improve their functional independence and QoL.


Sensation Disorders , Humans , Singapore/epidemiology , Female , Male , Aged , Risk Factors , Prevalence , Middle Aged , Sensation Disorders/epidemiology , Aged, 80 and over , Ethnicity/statistics & numerical data
8.
Autism Res ; 17(4): 775-784, 2024 Apr.
Article En | MEDLINE | ID: mdl-38433353

The methyl CpG-binding protein-2 (MECP2) gene is located on the Xq28 region. Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences between these gene dosage sensitive disorders. Further, research examining sensory processing patterns in persons with RTT and MDS is largely absent. Thus, the goal of this study was to analyze and compare sensory processing patterns in persons with RTT and MDS. Towards this goal, caregivers of 50 female individuals with RTT and 122 male individuals with MDS, between 1 and 46 years of age, completed a standardized measure of sensory processing, the Sensory Experiences Questionnaire. Patterns detected in both disorders were compared against each other and against normative values. We found sensory processing abnormalities for both hyper- and hypo-sensitivity in both groups. Interestingly, abnormalities in MDS were more pronounced compared with in RTT, particularly with items concerning hypersensitivity and sensory seeking, but not hyposensitivity. Individuals with MDS also exhibited greater sensory symptoms compared with RTT in the areas of tactile and vestibular sensory processing and for both social and nonsocial stimuli. This study provides a first description of sensory symptoms in individuals with RTT and individuals with MDS. Similar to other neurodevelopmental disorders, a variety of sensory processing abnormalities was found. These findings reveal a first insight into sensory processing abnormalities caused by a dosage sensitive gene and may ultimately help guide therapeutic approaches for these disorders.


Rett Syndrome , Female , Humans , Male , Methyl-CpG-Binding Protein 2/genetics , Mutation , Rett Syndrome/genetics , Rett Syndrome/physiopathology , Surveys and Questionnaires , Sensation Disorders/etiology , Sensation Disorders/genetics , Sensation Disorders/physiopathology
9.
Clin Neurophysiol ; 161: 231-241, 2024 May.
Article En | MEDLINE | ID: mdl-38522269

OBJECTIVE: This study aimed to characterize grasping behavior in static (weight-dependent modulation and stability of control) and dynamic (predictive control) aspects specifically focusing on the relative contribution of sensory and motor deficits to grip force control in patients with chronic stroke. METHODS: Twenty-four chronic stroke patients performed three manipulative tasks: five trials of 5-s grasp-lift-holding, 30-s static holding, and vertical dynamic/cyclic oscillation of holding the object. RESULTS: Exerted static grip force on the paretic side exhibited statistically greater than that on the non-paretic side. Spearman's rank correlation coefficient revealed that the contribution to static grip force control was larger in sensory deficits than in motor deficits. In addition, the sensory deficit is related to the reduced coupling between grip force and load force, suggesting difficulty in predictive control due to the absence of sensory feedback. CONCLUSIONS: Given that grip force control involves predictive feedforward and online feedback control, the evaluation of grip force might be an important and feasible evaluation manner for the assessment of sensorimotor control in patients post-stroke. SIGNIFICANCE: Detailed evaluation of grip force control would help to understand the mechanisms underlying hand dysfunction in stroke patients.


Hand Strength , Stroke , Humans , Hand Strength/physiology , Male , Female , Stroke/physiopathology , Stroke/complications , Middle Aged , Aged , Chronic Disease , Adult , Psychomotor Performance/physiology , Sensation Disorders/physiopathology , Sensation Disorders/etiology
10.
Eur Eat Disord Rev ; 32(3): 589-605, 2024 May.
Article En | MEDLINE | ID: mdl-38308450

OBJECTIVE: The DSM-5 classification introduced new Feeding and Eating Disorders (FED) diagnostic categories, notably Avoidant and Restrictive Food Intake Disorder (ARFID), which, like other FED, can present psychiatric and gastrointestinal symptoms. However, paediatric clinical research that focuses on children below the age of 12 years remains scarce. The aim of this study was first to investigate the clinical features of FED in a cohort of children, second to compare them according to their recruitment (gastroenterology or psychiatry unit). METHOD: This non-interventional retrospective cohort study analysed 191 patients in a French paediatric tertiary care centre (gastroenterology n = 100, psychiatry n = 91). The main outcome variables were clinical data (type of FED, BMI, nutritional support, chronic diseases, psychiatric comorbidities, sensory, sleep, language disorders, gastrointestinal complaints, adverse life events, family history). The outcome was defined by a Clinical Global Impression of Change-score. RESULTS: FED diagnoses were ARFID (n = 100), Unspecified FED (UFED, n = 57), anorexia nervosa (AN, n = 33) and one pica/rumination. Mean follow-up was 3.28 years (SD 1.91). ARFID was associated with selective and sensory disorders (p < 0.001); they had more anxiety disorders than patients with UFED (p < 0.001). Patients with UFED had more chewing difficulties, language disorder (p < 0.001), and more FED related to chronic disease (p < 0.05) than patients with ARFID and AN. Patients with AN were female, underweight, referred exclusively to the psychiatrist, and had more depression than patients with ARFID and UFED (p < 0.001). The gastroenterology cohort included more UFED, while the psychiatry cohort included more psychiatric comorbidities (p < 0.001). A worse clinical outcome was associated with ARFID, a younger age at onset (p < 0.001), selective/sensory disorders and nutritional support (p < 0.05). CONCLUSION: ARFID and UFED children were diagnosed either by gastroenterologists or psychiatrists. Due to frequently associated somatic and psychiatric comorbidities, children with FED should benefit from a multidisciplinary assessment and care.


Feeding and Eating Disorders , Gastroenterology , Humans , Female , Child , Male , Retrospective Studies , Cohort Studies , Feeding and Eating Disorders/epidemiology , Sensation Disorders , Eating
11.
Neurol Sci ; 45(3): 1057-1062, 2024 Mar.
Article En | MEDLINE | ID: mdl-37828389

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease characterized by rapidly progressive dementia, motor impairments, and psychiatric symptoms. Sensory disturbances were occasionally reported as well. The study aims to describe the sensory symptoms of the disease. METHODS: The CJD Israeli National Database was screened for patients who presented sensory symptoms throughout the disease course. Symptoms, characteristics, and distribution were reviewed and the demographic and clinical data (sex, etiologies of the disease, age of onset, disease duration, neurological exam finding, tau protein level, EEG and MRI findings) were compared with the demographics and clinical data of CJD without sensory symptoms. Then, the patients with sensory symptoms were divided into patients with symptom distribution consistent with peripheral nervous system (PNS) involvement and central nervous system (CNS) involvement. The demographics and clinical data of the 2 groups were compared. RESULTS: Eighty-four CJD patients with sensory symptoms and 645 CJD patients without sensory symptoms were included in the study. Sensory symptoms were more common in genetic E200K CJD patients (14.6% vs. 5.6% respectively, p = 0.0005) (chi-squared test). Numbness and neuropathic pain were the most common symptoms and distribution of symptoms of "stocking gloves" with decreased deep tendon reflexes suggesting peripheral neuropathy in 44% of the patients. In these patients, the classical EEG findings of Periodic Sharp Wave Complexes were less often found (58% vs. 22%, p = 0.02) (chi-squared test). CONCLUSIONS: Sensory symptoms are more common in E200K patients and often follow peripheral neuropathy distribution that suggests PNS involvement.


Creutzfeldt-Jakob Syndrome , Neurodegenerative Diseases , Peripheral Nervous System Diseases , Humans , Creutzfeldt-Jakob Syndrome/complications , Creutzfeldt-Jakob Syndrome/diagnostic imaging , Neurodegenerative Diseases/diagnosis , Magnetic Resonance Imaging , Diagnosis, Differential , Sensation Disorders/etiology , Sensation Disorders/diagnosis , Peripheral Nervous System Diseases/diagnosis
12.
Front Public Health ; 11: 1098109, 2023.
Article En | MEDLINE | ID: mdl-37050954

Purpose: The aim of this study is to investigate the cross-sectional and longitudinal associations between sensory impairments (SIs) including single vision impairment (SVI), single hearing impairment (SHI), and dual sensory impairments (DSI) with social isolation in the middle-aged and older Chinese population. Methods: Data were obtained from the China Health and Retirement Longitudinal Survey (CHARLS). In total, 11,674 Chinese older adults aged over 45 were included at baseline 2011, and 6,859 participants who accomplished all four interviews from 2011 to 2018 were adapted for longitudinal analyses. Sensory status and social isolation measurements including social disconnectedness and self-perceived loneliness were collected. Assessment of social disconnectedness included the number of types of social activities in which they participated and the frequency of such participation. Loneliness referred to the subjective perception of loneliness. Other covariates included socio-demographic characteristics, medical conditions, and lifestyle-related factors. The impacts of baseline sensory status on social disconnectedness and loneliness were assessed using univariate and multivariate generalized linear models. A generalized linear model with generalized estimation equations (GEE) was used to assess the association between time-varying sensory statuses with social disconnectedness or loneliness over 8 years after being adjusted with multi-confounding factors. Results: Participants with SIs had significantly higher levels of social disconnectedness and self-perceived loneliness, compared to those who were free of SI. All kinds of SIs were significantly associated with loneliness according to both cross-sectional and longitudinal data. The correlations between DSI and social disconnectedness or loneliness at baseline and over 8 years were also noticed. SHI was found to be significantly associated with both frequency and types of social activities according to cross-sectional data and with the frequency of social activity participation in longitudinal analysis. SVI was only associated with the types of social activities at baseline (all p-values < 0.05). Conclusion: Sensory impairments, especially dual sensory impairments, have explicitly detrimental effects on social isolation among the older Chinese population. Over time, single hearing impairment specifically jeopardizes their frequency rather than types of social activities participation.


East Asian People , Loneliness , Sensation Disorders , Social Isolation , Aged , Humans , Middle Aged , Cross-Sectional Studies , East Asian People/statistics & numerical data , Hearing Loss/complications , Hearing Loss/epidemiology , Health Surveys/statistics & numerical data , Sensation Disorders/complications , Sensation Disorders/epidemiology , China/epidemiology , Longitudinal Studies , Deaf-Blind Disorders/complications , Deaf-Blind Disorders/epidemiology , Blindness/complications , Blindness/epidemiology , Social Participation
13.
BMC Neurol ; 23(1): 144, 2023 Apr 04.
Article En | MEDLINE | ID: mdl-37016305

BACKGROUND: We report an enhancement of the dorsal roots on gadolinium-enhanced cervical magnetic resonance imaging (MRI) in a patient with acute autonomic and sensory neuropathy (AASN). CASE PRESENTATION: A 38-year-old woman visited our university hospital for dizziness and fainting while rising from sitting or lying down and a tingling sensation in the whole body, including her limbs, torso, and abdomen, which was sustained for 15 days. The patient had hyperalgesia in nearly her entire body and slight motor weakness in her bilateral upper and lower limbs. Autonomic dysfunction was confirmed using autonomic testing. Furthermore, the nerve conduction study showed an absence of sensory nerve action potentials in all evaluated peripheral nerves. Cervical MRI was performed 18 days after dysautonomia onset. In the axial T1-gadolinum-enhanced MRIs, enhancement in cervical ventral and dorsal nerve roots and the posterior column of the spinal cord were observed, and the axial T2-weighted MRI showed high signal intensity in the posterior column of the cervical spinal cord. Considering the clinical, electrophysiological and imaging findings, the patient was diagnosed with AASN. A total dose of 90 g (2 g/kg) of intravenous immunoglobulin was administered over 5 days. At the follow-up at 4 years after AASN symptom onset, the hyperalgesia and orthostatic hypotension symptoms improved. However, her systolic blood pressure intermittently decreased to < 80 mmHg. CONCLUSION: Gadolinium-enhanced MRI may facilitate the accurate and prompt diagnosis of AASN.


Nervous System Diseases , Peripheral Nervous System Diseases , Primary Dysautonomias , Humans , Female , Adult , Gadolinium , Contrast Media , Hyperalgesia , Sensation Disorders/diagnosis , Ganglia, Spinal , Magnetic Resonance Imaging
14.
J Neurol Sci ; 446: 120565, 2023 03 15.
Article En | MEDLINE | ID: mdl-36753892

INTRODUCTION: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system. METHODS: We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, sensory neuropathy/neuronopathy, vestibulopathy and chronic cough. Medical records were retrospectively reviewed for a detailed clinical description. More extensive phenotyping of the RFC1-positive patients and clinical comparison between RFC1 positive and negative patients were performed. RESULTS: Biallelic AAGGG repeat expansions were identified in 13 patients (65%). The most frequent symptoms were chronic cough and sensory disturbances in the lower extremities (12/13). Only 4 patients (31%) had complete CANVAS. The phenotypes were sensory ataxia and sensory symptoms in extremities in 4/13; sensory ataxia, sensory symptoms, and vestibulopathy in 3/13; sensory symptoms plus chronic cough in 2/13. Chronic cough and isolated sensory neuronopathy were significantly more prevalent in RFC1-positive patients. CONCLUSION: Pathogenic RFC1 expansions are a common cause of sensory neuropathy/neuronopathy and should be considered in the approach to these patients. Identification of key symptoms or detailed interpretation of nerve conduction studies may improve patient selection for genetic testing.


Bilateral Vestibulopathy , Cerebellar Ataxia , Peripheral Nervous System Diseases , Vestibular Diseases , Humans , Cerebellar Ataxia/genetics , Bilateral Vestibulopathy/complications , Cough , Retrospective Studies , Ataxia/complications , Peripheral Nervous System Diseases/complications , Vestibular Diseases/complications , Syndrome , Sensation Disorders/etiology , Reflex, Abnormal/physiology
15.
Disabil Rehabil ; 45(7): 1202-1207, 2023 04.
Article En | MEDLINE | ID: mdl-35369833

PURPOSE: To determine the effect of sensory perturbations on static postural control in older people with type 2 diabetes mellitus by comparing postural outcomes of people with and without diabetic neuropathy using a Wii Balance Board (WBB). MATERIALS AND METHODS: Static postural balance assessments were performed in 31 participants: nine with type 2 diabetes mellitus; 12 with diabetic neuropathy; and 10 non-diabetic controls. Participants stood on the WBB under sensory perturbations (visual and proprioceptive). Body balance was analysed using centre of pressure ellipse area, mean velocity, and sample entropy. The effects of within-participant factors, sensory perturbations and the between-participants factor 'group' on outcomes were analysed using a multivariate analysis of variance model. RESULTS: Type 2 diabetes mellitus participants with and without neuropathy showed altered postural performance under sensory perturbations compared to non-diabetic participants. Moreover, participants with diabetic neuropathy showed impaired postural performance when one perceptual system was disturbed. Finally, participants with type 2 diabetes mellitus without neuropathy decreased their postural performance when both sensory disturbances were present. CONCLUSIONS: The Wii Balance Board can be a useful alternative for balance impairment screening related to diabetic neuropathy and contribute as an affordable source of insight in early interventions in integral diabetes care.Implications to rehabilitationOlder people with diabetic peripheral neuropathy depend on visual and somatosensory cues to keep their static postural balance.Static balance assessment using the Wii Balance Board allows the identification of alterations in postural performance in participants with diabetes.This low-cost method used can be considered as a complement to integral diabetes care.


Diabetes Mellitus, Type 2 , Diabetic Neuropathies , Humans , Aged , Diabetes Mellitus, Type 2/complications , Aging , Sensation Disorders/diagnosis , Sensation Disorders/etiology , Postural Balance
16.
J Neuropsychol ; 17(1): 1-31, 2023 03.
Article En | MEDLINE | ID: mdl-35773750

Patients with acquired brain injury frequently report experiencing sensory stimuli as abnormally under- (sensory hyposensitivity) or overwhelming (sensory hypersensitivity). Although they can negatively impact daily functioning, these symptoms are poorly understood. To provide an overview of the current evidence on atypical sensory sensitivity after acquired brain injury, we conducted a systematic literature review. The primary aim of the review was to investigate the behavioural and neural mechanisms that are associated with self-reported sensory sensitivity. Studies were included when they studied sensory sensitivity in acquired brain injury populations, and excluded when they were not written in English, consisted of non-empirical research, did not study human subjects, studied pain, related sensory sensitivity to peripheral injury or studied patients with a neurodegenerative disorder, meningitis, encephalitis or a brain tumour. The Web of Science, PubMed and Scopus databases were searched for appropriate studies. A qualitative synthesis of the results of the 81 studies that were included suggests that abnormal sensory thresholds and a reduced information processing speed are candidate behavioural mechanisms of atypical subjective sensory sensitivity after acquired brain injury. Furthermore, there was evidence for an association between subjective sensory sensitivity and structural grey or white matter abnormalities, and to functional abnormalities in sensory cortices. However, further research is needed to explore the causation of atypical sensory sensitivity. In addition, there is a need for the development of adequate diagnostic tools. This can significantly advance the quantity and quality of research on the prevalence, aetiology, prognosis and treatment of these symptoms.


Brain Injuries , Sensation Disorders , Humans , Brain Injuries/complications , Sensation Disorders/etiology
17.
Rinsho Shinkeigaku ; 63(1): 27-30, 2023 Jan 28.
Article Ja | MEDLINE | ID: mdl-36567103

A 55-year-old man presented a slowly progressive sensory disorder, predominantly in both lower limbs, and gait disturbance. Neurological examinations revealed abnormal sensation and spasticity in both lower limbs, and a wide-based gait. Although examination revealed mild hyperchloremia and decreased motor conduction velocity in the peroneal nerve, head and whole spine MRI, and spinal fluid examination were normal. His job history revealed he had been engaged in metal cleaning work using 1-bromopropane (1-BP) for three years. His serum bromide concentration was increased to 175.6 mg/l (standard value: 5 or less), so we diagnosed him as having 1-BP neurotoxicity. The serum bromide concentration decreased after avoidance of exposure to 1-BP, but the gait disturbance remained. It was considered that we should obtain a detailed job history and measure the serum bromide concentration in patients with a sensory disorder in the extremities and gait disturbance of unknown origin.


Bromides , Neurotoxicity Syndromes , Humans , Male , Middle Aged , Ataxia , Neurotoxicity Syndromes/diagnosis , Neurotoxicity Syndromes/etiology , Sensation Disorders
18.
J Autism Dev Disord ; 53(10): 3860-3872, 2023 Oct.
Article En | MEDLINE | ID: mdl-35927515

Sensory features are common and impairing in autism spectrum disorder (ASD), but there are few observational sensory assessments that are valid across ages. We used the Sensory Processing 3-Dimensional (SP3-D) observed Assessment and parent-reported Inventory to examine sensory responsivity in 41 ASD and 33 typically-developing (TD) youth across 7-17 years. ASD youth had higher and more variable observed and reported sensory responsivity symptoms compared to TD, but the two measures were not correlated. Observed sensory over-responsivity (SOR) and sensory craving (SC) decreased with age in ASD, though SOR remained higher in ASD versus TD through adolescence. Results suggest that in ASD, the SP3-D Assessment can identify SOR through adolescence, and that there is value in integrating multiple sensory measures.


Autism Spectrum Disorder , Adolescent , Humans , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/complications , Sensation Disorders/diagnosis , Sensation Disorders/complications , Sensation
19.
Audiol., Commun. res ; 28: e2575, 2023. tab, graf
Article Pt | LILACS | ID: biblio-1420263

RESUMO Objetivo Avaliar o controle postural na doença de Menière. Métodos 34 pacientes com doença de Menière definida (grupo experimental) e 34 indivíduos hígidos (grupo controle), homogêneos quanto à idade e ao gênero, foram submetidos à posturografia do Tetrax Interactive Balance System (Tetrax IBS TM) em oito condições sensoriais. Índice de estabilidade, índice de distribuição de peso, índice de sincronização da oscilação postural direita/esquerda e dedos/calcanhar, frequência de oscilação postural e índice de risco de queda foram analisados. Resultados O índice de estabilidade foi maior no grupo experimental, com diferença significativa entre os grupos, em todas as condições sensoriais testadas. O risco de queda foi maior no grupo experimental do que no grupo controle. A oscilação postural foi maior no grupo experimental em todas as faixas de frequência, com diferença significativa em algumas delas. Não houve diferença significativa entre os grupos nos índices de distribuição de peso e de sincronização, nas oito condições sensoriais avaliadas. Conclusão Pacientes com doença de Menière apresentam comprometimento do controle postural, caracterizado por alterações do índice de estabilidade, em frequências de oscilação postural e no índice de risco de queda.


ABSTRACT Purpose To evaluate postural control in Menière's disease. Methods 34 patients with Menière's disease (experimental group) and 34 healthy individuals (control group) were submitted to Tetrax Interactive Balance System posturography under eight sensory conditions. Stability, weight distribution, synchronization, risk of falling and postural oscillation frequency were analyzed. Results Stability index was higher in the experimental group with significant difference between the groups in all sensory conditions. Risk of falling was higher in the experimental group than in the control. Postural oscillation was higher in the experimental group in all frequency ranges, with significant difference in some of them. There was no significant difference between the groups in the weight distribution and synchronization indexes. Conclusion In this study, Menière's disease patients presented impaired postural control, characterized by postural instability and oscillation and risk of falling.


Humans , Male , Female , Adult , Middle Aged , Aged , Vestibular Function Tests/methods , Sensation Disorders , Postural Balance , Posturology , Meniere Disease
20.
Brain Nerve ; 74(11): 1287-1291, 2022 Nov.
Article Ja | MEDLINE | ID: mdl-36343934

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by the triad of cerebellar ataxia, bilateral vestibular impairment, and sensory neuropathy. The responsible anatomical region for the sensory disturbance in CANVAS is reportedly the dorsal root ganglion, which suggests neuronopathy rather than neuropathy as the pathomechanism of this peripheral nervous system disorder. Early on, motor neuron involvement was considered rare in CANVAS. The etiology of CANVAS includes the homozygous pentanucleotide repeat expansion within the RFC1 gene, resulting in diverse phenotypes and motor deficits such as brisk reflex, extensor plantar responses, or spasticity of the upper motor neurons and muscle wasting, weakness, cramp, or fasciculation of the lower motor neurons. CANVAS patients with AAGGG repeat expansions may show motor neuron involvement, with considerable variation in the reported frequencies. In contrast, although some patients with ACAGG repeat expansions also show motor neuron involvement, its frequency remains elusive.


Cerebellar Ataxia , Peripheral Nervous System Diseases , Humans , Peripheral Nervous System Diseases/genetics , Sensation Disorders/etiology , Ganglia, Spinal , Motor Neurons
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