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1.
Neurol Sci ; 45(3): 1057-1062, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37828389

RESUMO

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.


Assuntos
Síndrome de Creutzfeldt-Jakob , Doenças Neurodegenerativas , Doenças do Sistema Nervoso Periférico , Humanos , Síndrome de Creutzfeldt-Jakob/complicações , Síndrome de Creutzfeldt-Jakob/diagnóstico por imagem , Doenças Neurodegenerativas/diagnóstico , Imageamento por Ressonância Magnética , Diagnóstico Diferencial , Transtornos das Sensações/etiologia , Transtornos das Sensações/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico
2.
BMC Neurol ; 23(1): 144, 2023 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-37016305

RESUMO

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.


Assuntos
Doenças do Sistema Nervoso , Doenças do Sistema Nervoso Periférico , Disautonomias Primárias , Humanos , Feminino , Adulto , Gadolínio , Meios de Contraste , Hiperalgesia , Transtornos das Sensações/diagnóstico , Gânglios Espinais , Imageamento por Ressonância Magnética
3.
Front Public Health ; 11: 1098109, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37050954

RESUMO

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.


Assuntos
População do Leste Asiático , Solidão , Transtornos das Sensações , Isolamento Social , Idoso , Humanos , Pessoa de Meia-Idade , Estudos Transversais , População do Leste Asiático/estatística & dados numéricos , Perda Auditiva/complicações , Perda Auditiva/epidemiologia , Inquéritos Epidemiológicos/estatística & dados numéricos , Transtornos das Sensações/complicações , Transtornos das Sensações/epidemiologia , China/epidemiologia , Estudos Longitudinais , Transtornos da Surdocegueira/complicações , Transtornos da Surdocegueira/epidemiologia , Cegueira/complicações , Cegueira/epidemiologia , Participação Social
4.
J Neurol Sci ; 446: 120565, 2023 03 15.
Artigo em Inglês | MEDLINE | ID: mdl-36753892

RESUMO

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.


Assuntos
Vestibulopatia Bilateral , Ataxia Cerebelar , Doenças do Sistema Nervoso Periférico , Doenças Vestibulares , Humanos , Ataxia Cerebelar/genética , Vestibulopatia Bilateral/complicações , Tosse , Estudos Retrospectivos , Ataxia/complicações , Doenças do Sistema Nervoso Periférico/complicações , Doenças Vestibulares/complicações , Síndrome , Transtornos das Sensações/etiologia , Reflexo Anormal/fisiologia
5.
Disabil Rehabil ; 45(7): 1202-1207, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-35369833

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 2 , Neuropatias Diabéticas , Humanos , Idoso , Diabetes Mellitus Tipo 2/complicações , Envelhecimento , Transtornos das Sensações/diagnóstico , Transtornos das Sensações/etiologia , Equilíbrio Postural
6.
J Neuropsychol ; 17(1): 1-31, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35773750

RESUMO

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.


Assuntos
Lesões Encefálicas , Transtornos das Sensações , Humanos , Lesões Encefálicas/complicações , Transtornos das Sensações/etiologia
7.
J Autism Dev Disord ; 53(10): 3860-3872, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35927515

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Adolescente , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/complicações , Transtornos das Sensações/diagnóstico , Transtornos das Sensações/complicações , Sensação
8.
Rinsho Shinkeigaku ; 63(1): 27-30, 2023 Jan 28.
Artigo em Japonês | MEDLINE | ID: mdl-36567103

RESUMO

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.


Assuntos
Brometos , Síndromes Neurotóxicas , Humanos , Masculino , Pessoa de Meia-Idade , Ataxia , Síndromes Neurotóxicas/diagnóstico , Síndromes Neurotóxicas/etiologia , Transtornos das Sensações
9.
Audiol., Commun. res ; 28: e2575, 2023. tab, graf
Artigo em Português | LILACS | ID: biblio-1420263

RESUMO

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.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Testes de Função Vestibular/métodos , Transtornos das Sensações , Equilíbrio Postural , Posturologia , Doença de Meniere
10.
Brain Nerve ; 74(11): 1287-1291, 2022 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-36343934

RESUMO

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.


Assuntos
Ataxia Cerebelar , Doenças do Sistema Nervoso Periférico , Humanos , Doenças do Sistema Nervoso Periférico/genética , Transtornos das Sensações/etiologia , Gânglios Espinais , Neurônios Motores
11.
J Peripher Nerv Syst ; 27(4): 311-315, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36177974

RESUMO

Biallelic repeat expansions in replication factor C subunit 1 (RFC1) have recently been found to cause cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). Additional features that have been described include Parkinsonism and a multiple system atrophy (MSA)-like syndrome. CANVAS can include features of dysautonomia, but they are much milder than typically seen in MSA. We report a detailed autonomic phenotype of multisystem RFC1-related disease presenting initially as CANVAS. Our patient presented aged 61 with a sensory ataxic neuropathy who rapidly developed widespread autonomic failure and Parkinsonism. The autonomic profile was of a mixed pre- and post-ganglionic syndrome with progressive involvement of sympathetic and parasympathetic cardiovascular and sudomotor function. The Parkinsonism did not respond to levodopa. We present a patient with CANVAS and biallelic RFC1 expansions who developed Parkinsonism with severe autonomic involvement similar to that seen in classical MSA. The link between MSA and CANVAS remains uncertain.


Assuntos
Ataxia Cerebelar , Transtornos Parkinsonianos , Doenças do Sistema Nervoso Periférico , Disautonomias Primárias , Humanos , Ataxia Cerebelar/genética , Transtornos Parkinsonianos/complicações , Transtornos Parkinsonianos/genética , Transtornos das Sensações/etiologia , Síndrome , Disautonomias Primárias/genética
12.
Am Fam Physician ; 106(2): 173-183, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35977131

RESUMO

Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system and the most common cause of nontraumatic neurologic disability in young adults. Types of MS include relapsing-remitting (most common), secondary progressive, and primary progressive. Clinically isolated syndrome and radiologically isolated syndrome are additional categories for patients with findings concerning for MS who do not yet meet the diagnostic criteria for the disease. Symptoms of MS depend on the areas of neuronal involvement. Common symptoms include sensory disturbances, motor weakness, impaired gait, incoordination, optic neuritis, and Lhermitte sign. A patient history, neurologic examination, and application of the 2017 McDonald Criteria are needed to diagnose MS accurately. Patients with MS should be treated by a multidisciplinary team that may include physical and occupational therapists, speech and language therapists, mental health professionals, pharmacists, dietitians, neurologists, and family physicians. Steroids are the mainstay of treatment for the initial presentation of MS and relapses. Patients who do not adequately respond to steroids may benefit from plasmapheresis. Patients with MS who smoke tobacco should be strongly encouraged to quit. Disease-modifying therapy has been shown to slow disease progression and disability; options include injectable agents, infusions, and oral medications targeting different sites in the inflammatory pathway. Symptom-based care is important to address the bowel and bladder dysfunction, depression, fatigue, movement disorders, and pain that often complicate MS.


Assuntos
Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/terapia , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Atenção Primária à Saúde , Recidiva , Transtornos das Sensações , Adulto Jovem
14.
Sensors (Basel) ; 22(9)2022 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-35591203

RESUMO

Intensive balance and coordination training is the mainstay of treatment for symptoms of impaired balance and mobility in individuals with hereditary cerebellar ataxia. In this study, we compared the effects of home-based balance and coordination training with and without vibrotactile SA for individuals with hereditary cerebellar ataxia. Ten participants (five males, five females; 47 ± 12 years) with inherited forms of cerebellar ataxia were recruited to participate in a 12-week crossover study during which they completed two six-week blocks of balance and coordination training with and without vibrotactile SA. Participants were instructed to perform balance and coordination exercises five times per week using smartphone balance trainers that provided written, graphic, and video guidance and measured trunk sway. The pre-, per-, and post-training performance were assessed using the Scale for the Assessment and Rating of Ataxia (SARA), SARAposture&gait sub-scores, Dynamic Gait Index, modified Clinical Test of Sensory Interaction in Balance, Timed Up and Go performed with and without a cup of water, and multiple kinematic measures of postural sway measured with a single inertial measurement unit placed on the participants' trunks. To explore the effects of training with and without vibrotactile SA, we compared the changes in performance achieved after participants completed each six-week block of training. Among the seven participants who completed both blocks of training, the change in the SARA scores and SARAposture&gait sub-scores following training with vibrotactile SA was not significantly different from the change achieved following training without SA (p>0.05). However, a trend toward improved SARA scores and SARAposture&gait sub-scores was observed following training with vibrotactile SA; compared to their pre-vibrotacile SA training scores, participants significantly improved their SARA scores (mean=−1.21, p=0.02) and SARAposture&gait sub-scores (mean=−1.00, p=0.01). In contrast, no significant changes in SARA scores and SARAposture&gait sub-scores were observed following the six weeks of training without SA compared to their pre-training scores immediately preceding the training block without vibrotactile SA (p>0.05). No significant changes in trunk kinematic sway parameters were observed as a result of training (p>0.05). Based on the findings from this preliminary study, balance and coordination training improved the participants' motor performance, as captured through the SARA. Vibrotactile SA may be a beneficial addition to training regimens for individuals with hereditary cerebellar ataxia, but additional research with larger sample sizes is needed to assess the significance and generalizability of these findings.


Assuntos
Ataxia Cerebelar , Transtornos Neurológicos da Marcha , Modalidades de Fisioterapia , Transtornos das Sensações , Adulto , Ataxia Cerebelar/etiologia , Ataxia Cerebelar/terapia , Estudos Cross-Over , Retroalimentação , Feminino , Marcha , Transtornos Neurológicos da Marcha/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Equilíbrio Postural , Autocuidado , Transtornos das Sensações/terapia , Smartphone/instrumentação , Telerreabilitação/instrumentação , Tato , Vibração
15.
Res Dev Disabil ; 126: 104238, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35487049

RESUMO

BACKGROUND: Sensory processing disorder (SPD) is a neurophysiologic disorder in which sensory input is poorly detected, modulated, interpreted and/or to which atypical responses occur. The objective of this study was to validate an Arabic questionnaire for identification of SPD among preschool Arabic-speaking children with Autism Spectrum Disorders (ASD) and Attention Deficit Hyperactivity Disorder (ADHD). METHODS: A newly constructed Arabic questionnaire for assessment of SPD was completed by parents of 100 Egyptian Arabic-speaking children including 40 typically-developing children (control group), 30 children with ASD, and 30 children with ADHD in the age range 3-6 years RESULTS AND CONCLUSION: Sensory processing differences were detected between typically-developing children and children with ASD and ADHD. Significant differences were found in auditory processing, visual processing, oral sensory processing, olfactory processing, total scores and emotional/social response. The current study revealed non-significant differences between ASD and ADHD children as regards auditory, visual, touch, oral sensory, olfactory and total processing scores. On the other hand, ASD children showed higher scores in proprioceptive processing and lower scores in emotional/social response than children with ADHD. The designed Arabic questionnaire is a valid and reliable assessment tool for identification of SPD in preschool Arabic-speaking children.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Percepção do Tato , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Egito , Humanos , Transtornos das Sensações , Inquéritos e Questionários
16.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 42(2): 102-109, Abri - Jun 2022. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-204864

RESUMO

El presente estudio de caso presenta la evaluación de una paciente adolescente de 17años, adoptada en los países del Este, con discapacidad intelectual límite y problemas sensoriales. Tras la evaluación inicial se diagnosticó un trastorno del desarrollo del lenguaje de tipo fonológico-sintáctico, con comorbilidad con dislexia evolutiva e importantes problemas sensoriales. Paralelamente al diagnóstico se postuló que la adolescente sufriría síndrome de alcoholismo fetal asociado a la exposición prenatal al alcohol, tanto por su cuadro clínico como por las sospechas de su historial de adopción.(AU)


The present case study presents the speech therapy evaluation of a 17-year-old adolescent patient, adopted in an Eastern country, with borderline intellectual disability and sensory problems. After the initial evaluation, a specific lexical-syntactic language disorder was diagnosed, with comorbidity with evolutionary dyslexia and severe sensorial problems. Parallel to the diagnosis, it was postulated that the adolescent had foetal alcohol syndrome associated with prenatal alcohol exposure, both due to her clinical condition and suspicion from her adoption history. After a year of speech therapy intervention, the girl showed no improvement.(AU)


Assuntos
Humanos , Adolescente , Deficiência Intelectual , Transtornos das Sensações , Desenvolvimento da Linguagem , Transtornos da Linguagem , Dislexia , Transtornos do Espectro Alcoólico Fetal , Transtorno Fonológico , Audiologia , Fonoterapia
17.
J Neuroeng Rehabil ; 19(1): 32, 2022 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-35321749

RESUMO

BACKGROUND: Oxaliplatin (OX) chemotherapy for colorectal cancer is associated with adverse neurotoxic effects that can contribute to long-term sensorimotor impairments in cancer survivors. It is often thought that the sensorimotor impairments are dominated by OX-induced dying-back sensory neuropathy that primarily affects the distal regions of the limb. Recent preclinical studies have identified encoding dysfunction of muscle proprioceptors as an alternative mechanism. Unlike the dying-back sensory neuropathy affecting distal limbs, dysfunction of muscle proprioceptors could have more widespread effects. Most investigations of chemotherapy-induced sensorimotor impairments have considered only the effects of distal changes in sensory processing; none have evaluated proximal changes or their influence on function. Our study fills this gap by evaluating the functional use of proprioception in the shoulder and elbow joints of cancer survivors post OX chemotherapy. We implemented three multidirectional sensorimotor tasks: force matching, target reaching, and postural stability tasks to evaluate various aspects of proprioception and their use. Force and kinematic data of the sensorimotor tasks were collected in 13 cancer survivors treated with OX and 13 age-matched healthy controls. RESULTS: Cancer survivors exhibited less accuracy and precision than an age-matched control group when they had to rely only on proprioceptive information to match force, even for forces that required only torques about the shoulder. There were also small differences in the ability to maintain arm posture but no significant differences in reaching. The force deficits in cancer survivors were significantly correlated with self-reported motor dysfunction. CONCLUSIONS: These results suggest that cancer survivors post OX chemotherapy exhibit proximal proprioceptive deficits, and that the deficits in producing accurate and precise forces are larger than those for producing unloaded movements. Current clinical assessments of chemotherapy-related sensorimotor dysfunction are largely limited to distal symptoms. Our study suggests that we also need to consider changes in proximal function. Force matching tasks similar to those used here could provide a clinically meaningful approach to quantifying OX-related movement dysfunction during and after chemotherapy.


Assuntos
Sobreviventes de Câncer , Neoplasias , Doenças do Sistema Nervoso Periférico , Humanos , Neoplasias/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Propriocepção/fisiologia , Transtornos das Sensações , Extremidade Superior
18.
Cancer Med ; 11(14): 2801-2816, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35322580

RESUMO

PURPOSE: Cisplatin is a critical component of first-line chemotherapy for several cancers, but causes peripheral sensory neuropathy, hearing loss, and tinnitus. We aimed to identify comorbidities for cisplatin-induced neurotoxicities among large numbers of similarly treated patients without the confounding effect of cranial radiotherapy. METHODS: Utilizing linear and logistic regression analyses on 1680 well-characterized cisplatin-treated testicular cancer survivors, we analyzed associations of hearing loss, tinnitus, and peripheral neuropathy with nongenetic comorbidities. Genome-wide association studies and gene-based analyses were performed on each phenotype. RESULTS: Hearing loss, tinnitus, and peripheral neuropathy, accounting for age and cisplatin dose, were interdependent. Survivors with these neurotoxicities experienced more hypertension and poorer self-reported health. In addition, hearing loss was positively associated with BMIs at clinical evaluation and nonwork-related noise exposure (>5 h/week). Tinnitus was positively associated with tobacco use, hypercholesterolemia, and noise exposure. We observed positive associations between peripheral neuropathy and persistent vertigo, tobacco use, and excess alcohol consumption. Hearing loss and TXNRD1, which plays a key role in redox regulation, showed borderline significance (p = 4.2 × 10-6 ) in gene-based analysis. rs62283056 in WFS1 previously found to be significantly associated with hearing loss (n = 511), was marginally significant in an independent replication cohort (p = 0.06; n = 606). Gene-based analyses identified significant associations between tinnitus and WNT8A (p = 2.5 × 10-6 ), encoding a signaling protein important in germ cell tumors. CONCLUSIONS: Genetics variants in TXNRD1 and WNT8A are notable risk factors for hearing loss and tinnitus, respectively. Future studies should investigate these genes and if replicated, identify their potential impact on preventive strategies.


Assuntos
Antineoplásicos , Perda Auditiva , Síndromes Neurotóxicas , Doenças do Sistema Nervoso Periférico , Neoplasias Testiculares , Zumbido , Antineoplásicos/efeitos adversos , Cisplatino/uso terapêutico , Estudo de Associação Genômica Ampla , Perda Auditiva/induzido quimicamente , Perda Auditiva/genética , Humanos , Masculino , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/genética , Farmacogenética , Transtornos das Sensações , Neoplasias Testiculares/genética , Zumbido/induzido quimicamente , Zumbido/genética
19.
Acta Neuropathol Commun ; 10(1): 34, 2022 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-35296359

RESUMO

Entrapment peripheral neuropathies are clinically characterized by sensory impairment and motor deficits. They are usually caused by mechanical injuries, but they are also a frequent manifestation of metabolic diseases, toxic agent exposure, or systemic fibrotic disorders. Here we describe the clinical, radiological, and histopathological features of a novel progressive fibrotic disorder characterized by progressive multifocal fibrosing neuropathy. We identified two patients who presented with severe and progressive peripheral neuropathic symptoms sequentially affecting multiple sites. These patients presented with severe and progressive multifocal, sequentially additive peripheral neuropathic symptoms. Extensive nerve conduction and radiological studies showed the sequential development of multifocal motor and sensory peripheral neuropathy in the absence of any exposure to known infectious, inflammatory, or fibrotic triggers and the lack of family history of compression neuropathies. Extensive clinical and laboratory test evaluation failed to support the diagnosis of any primary inflammatory or genetic peripheral neuropathy and there was no evidence of any systemic fibrosing disorder including Systemic Sclerosis, lacking cutaneous fibrotic changes and cardiopulmonary abnormalities. The clinical course was progressive with sequential development of motor and sensory deficits of upper and lower extremities displaying proximal predominance. Histopathological study of tissues obtained during nerve release surgeries showed severe perineural fibrosis with marked accumulation of thick collagen bundles encroaching the peripheral nerves. There was no evidence of vasculitic, inflammatory, or vascular fibroproliferative lesions. We suggest that the clinical findings described here represent a previously undescribed fibrotic disorder affecting peripheral nerves, and we propose the descriptive term "Progressive Multifocal Fibrosing Neuropathy" to refer to this novel disorder. Despite the inherent limitations of this early description, we hope this is would contribute to the identification of additional cases.


Assuntos
Doenças do Sistema Nervoso Periférico , Fibrose , Humanos , Condução Nervosa , Nervos Periféricos/patologia , Transtornos das Sensações
20.
Sci Rep ; 12(1): 4556, 2022 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-35296686

RESUMO

Besides anthropometric variables, high-order body representations have been hypothesised to influence postural control. However, this has not been directly tested before. Moreover, some studies indicate that sex moderates the relationship of anthropometry and postural control. Therefore, as a proof of concept we investigated the association of body representations with postural control as well as the influence of participants' sex/gender. Body image measures were assessed with a figural drawing task. Body schema was tested by a covert and an overt task. Body sway was measured during normal bipedal quiet standing with eyes closed (with/without neck extended). Statistical analysis consisted of hierarchical multiple linear regressions with the following regression steps: (1) sensory condition, (2) sex/gender, (3) age, (4) anthropometry, (5) body schema, (6) body image, (7) sex/gender-interactions. Across 36 subjects (19 females), body schema was significantly associated with body sway variability and open-loop control, in addition to commonly known influencing factors, such as sensory condition, gender, age and anthropometry. While in females, also body image dissatisfaction substantially was associated with postural control, this was not the case in males. Sex differences and possible causes why high-order body representations may influence concurrent sensorimotor control of body sway are discussed.


Assuntos
Imagem Corporal , Caracteres Sexuais , Feminino , Humanos , Masculino , Equilíbrio Postural , Transtornos das Sensações , Posição Ortostática
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