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1.
Artigo em Russo | MEDLINE | ID: mdl-32929922

RESUMO

OBJECTIVE: To evaluate the effectiveness of comprehensive rehabilitation using cellex in post-stroke patients in the late recovery period and the period of residual disorders in a prospective long-term study. MATERIAL AND METHODS: Clinical examination and comprehensive rehabilitation treatment of 115 patients, aged 27-69 years (mean 50,47±11,20 years), with ischemic stroke and stroke in the carotid territory (n=78, 67,8%) and hemorrhagic stroke (n=37, 32, 2%) was carried out in the inpatient Department of GBU «NORCI¼. Patients who received rehabilitation measures were divided into two groups depending on the medication. The main study group consisted of 56 patients (48,7%) who received a course of cellex in the rehabilitation complex, the comparison group (n=59, 51,6%) underwent treatment without medication. RESULTS AND CONCLUSION: The complex multi-course rehabilitation treatment using cellex in patients in the late recovery period and in the period of consequences of ischemic stroke, who have speech and motor disorders, is highly effective, and demonstrate good results despite the age of the disease.


Assuntos
Transtornos Motores , Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral , Adulto , Idoso , Feminino , Humanos , Hemorragias Intracranianas , Pessoa de Meia-Idade , Estudos Prospectivos , Recuperação de Função Fisiológica , Resultado do Tratamento
2.
Medicine (Baltimore) ; 99(29): e20900, 2020 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-32702831

RESUMO

Cerebral venous sinus thrombosis (CVST) is a cause of secondary headache with substantial morbimortality. Headache dominates the clinical presentation, but no typical phenotype has been described. We aim to evaluate the presence of red flags in headache in patients with confirmed CVST at the moment of emergency department (ED) presentation.Retrospective STROBE compliant cohort study including patients with confirmed CVST that consulted because of headache at the ED. We analyzed presence and type of red flags at the moment of consult. We evaluated whether CVST was suspected at the moment of imaging request and analyzed delay in the diagnosis.Nineteen patients fulfilled inclusion and exclusion criteria. Mean age was 48.5 years, 47.4% were female. All the studied patients exhibited at least 1 red flag, being abnormal neurological examination the most frequent (79%), followed by the presence of other neurological symptoms (68%), alarm data related with headache phenotype (63%), or risk factors concerning prior medical history (47%). Temporal pattern of the headache was acute in 42.1%, thunderclap in 31.6%, and subacute in 26.3%. In none patient CVST was the specific suspicion when imaging was requested. Median time since headache onset and ED presentation was 84 hours, being different in patients with associated symptoms (48 hours) when compared with isolated headache patients (168 hours). Time since ED presentation and the diagnosis also differed between the 2 groups, being more prolonged in patients with an isolated headache at presentation.Headache attributed with CVST did not exhibit any distinctive phenotype, but all the patients presented some red flag, being abnormal neurological examination the most frequent.


Assuntos
Cefaleia/etiologia , Trombose dos Seios Intracranianos/diagnóstico , Afasia/etiologia , Comportamento , Estudos de Coortes , Transtornos da Consciência/etiologia , Serviço Hospitalar de Emergência , Feminino , Febre/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Motores/etiologia , Paresia/etiologia , Estudos Retrospectivos , Medição de Risco , Convulsões/etiologia , Transtornos das Sensações/etiologia , Distúrbios da Fala/etiologia , Manobra de Valsalva
3.
Adv Exp Med Biol ; 1279: 37-51, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32350822

RESUMO

Movement synergies, muscle co-contraction, and decreased motor drive to muscle agonists were suggested to be major factors in motor impairments after stroke. The purpose of this study was to investigate the major muscle mechanisms contributing to motor impairment after stroke. Twelve healthy and 13 post-stroke patients participated in this observational study. Both groups participated in a single experimental session, performing hand pointing movements in multiple directions, during which EMG was assessed. Additionally, the patients underwent the Fugl-Meyer assessment. A set of features from the electromyography (EMG) signal and co-contraction ratios were used to compare the capacity to modulate the muscle activity between the two groups of participants. A correlation analysis was applied between the Euclidian distances of each target and the Fugl-Meyer scoring assessment in the post-stroke patients. We found that impaired modulation of muscle activity in post-stroke patients was characterized by significantly increased Euclidian distances between the EMG features of different target directions and by a higher variability between muscle activation compared to healthy subjects. Impaired capacity to modulate muscle activity significantly correlated with the impairment status. In conclusion, impaired motor performance post-stroke systematic disturbance in the control signal to limb muscles, which manifests as decreased capacity to modulate muscle activity, rather than co-contraction of muscle antagonists or stereotyped movement patterns.


Assuntos
Transtornos Motores/complicações , Transtornos Motores/fisiopatologia , Contração Muscular , Músculo Esquelético/fisiopatologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/fisiopatologia , Eletromiografia , Humanos
4.
PLoS One ; 15(5): e0233349, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32469951

RESUMO

BACKGROUND: Numerous studies have noted the presence of a dysexecutive component of the ALS-FTD. The most widely replicated result refers to the significantly reduced verbal fluency of ALS patients when compared to healthy people. As ALS patients have motor alterations that interfere with production, qualitative studies have the advantage of being independent of the degree of motor disability and revealing patients' cognitive state. This study examined the production differences between 42 ALS patients who presented with different degrees of dementia and motor impairment and 42 healthy people. Production processes were studied by extending the administration time of a letter fluency task to 2 minutes for the phonemic verbal fluency (PVF) and semantic verbal fluency (SVF) categories. This ensured that the qualitative aspects of verbal fluency were addressed, paying special attention to the new perseverations and intrusions, as well as any clinical correlates that may exist. RESULTS: The ALS patients produced a significantly lower number of responses in PVF (p = .017) and SVF (p = .008). The rest of the indicators for frontal lobe alteration also suggested the existence of a dysfunction. The most remarkable results were the number of intrusions on the PVF task, which was much higher in the ALS group (p = .002). However, the number of perseverations did not differ significantly. CONCLUSIONS: This study highlights the value of intrusions in addressing cognitive deterioration in ALS patients. This deterioration seems to be independent of the degree of motor impairment and of behavioural alterations. Therefore, the value of the intromissions on the verbal fluency task was highlighted as an indicator of a new cognitive alteration, which can be easily evaluated, even retrospectively.


Assuntos
Esclerose Amiotrófica Lateral/fisiopatologia , Transtornos Cognitivos/epidemiologia , Transtornos da Linguagem/epidemiologia , Transtornos Motores/epidemiologia , Semântica , Comportamento Verbal , Estudos de Casos e Controles , Criança , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Espanha/epidemiologia
5.
Am J Pathol ; 190(8): 1713-1722, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32371051

RESUMO

Amyotrophic lateral sclerosis is a rapidly progressing and fatal disease characterized by muscular atrophy due to loss of upper and lower motor neurons. Pathogenic mutations in the TARDBP gene encoding TAR DNA binding protein-43 (TDP-43) have been identified in familial amyotrophic lateral sclerosis. We have previously reported transgenic mice with neuronal expression of human TDP-43 carrying the pathogenic A315T mutation (iTDP-43A315T mice) using a tetracycline-controlled inducible promotor system. Constitutive expression of transgenic TDP-43A315T in the absence of doxycycline resulted in pronounced early-onset and progressive neurodegeneration, and motor and memory deficits. Here, delayed transgene expression of TDP-43A315T by oral doxycycline treatment of iTDP-43A315T mice from birth till weaning was analyzed. After doxycycline withdrawal, transgenic TDP-43A315T expression gradually increased and resulted in cytoplasmic TDP-43, widespread ubiquitination, and cortical and hippocampal atrophy. In addition, these mice developed motor and gait deficits with underlying muscle atrophy, similar to that observed in the constitutive iTDP-43A315T mice. Surprisingly, in contrast to the constitutive iTDP-43A315T mice, these mice did not develop astrogliosis. In summary, delayed activation coupled with gradual increase in TDP-43A315T expression in the central nervous system of mature mice resulted in progressive functional deficits with neuron and muscle loss, but in the absence of a glial response. This suggests that astrocytosis does not contribute to functional deficits and neuronal loss upon TDP-43A315T expression in mature mice.


Assuntos
Encéfalo/metabolismo , Proteínas de Ligação a DNA/genética , Gliose/patologia , Transtornos Motores/genética , Atrofia Muscular/genética , Degeneração Neural/genética , Animais , Encéfalo/patologia , Proteínas de Ligação a DNA/metabolismo , Camundongos , Camundongos Transgênicos , Transtornos Motores/metabolismo , Transtornos Motores/patologia , Atrofia Muscular/metabolismo , Atrofia Muscular/patologia , Degeneração Neural/metabolismo , Degeneração Neural/patologia
6.
Phys Ther ; 100(8): 1343-1352, 2020 08 12.
Artigo em Inglês | MEDLINE | ID: mdl-32329778

RESUMO

OBJECTIVE: The aim of this project is to study the effect of a physical therapist intervention provided in the first months of life on developmental outcomes of infants born very preterm. Secondary aims are to investigate the impact of intervention timing on the efficacy and impact of the intervention on infants with and without cerebral palsy. METHODS: This study is a multisite longitudinal controlled trial comparing developmental outcomes from infants in the Supporting Play, Exploration, and Early Development Intervention (SPEEDI)_Late or SPEEDI_Early group to a usual care group. SETTINGS ARE URBAN: Urban and rural areas surrounding 2 academic medical centers. There will be 90 preterm infants enrolled in this study born at <29 weeks of gestation. SPEEDI is a developmental intervention provided by collaboration between a physical therapist and parent to support a child's motor and cognitive development. The primary outcome measure is the Bayley Scale of Infant and Toddler Development Cognitive and Gross Motor Scaled Scores. Secondary measures include behavioral coding of early problem solving skills, the Gross Motor Function Measure, and Test of Infant Motor Performance. IMPACT: More than 270,000 infants are born very preterm in the United States each year, 50% of whom will have neurological dysfunction that limits their ability to keep pace with peers who are typically developing. This study is a step toward understanding the impact that intensive developmental intervention could have in this population in the first months of life.


Assuntos
Desenvolvimento Infantil/fisiologia , Deficiências do Desenvolvimento/prevenção & controle , Intervenção Médica Precoce/métodos , Terapia por Exercício/métodos , Lactente Extremamente Prematuro/crescimento & desenvolvimento , Ludoterapia/métodos , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/reabilitação , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Transtornos Motores/prevenção & controle , Destreza Motora/fisiologia , Resolução de Problemas , Fatores de Tempo
7.
Phys Ther ; 100(4): 633-644, 2020 04 17.
Artigo em Inglês | MEDLINE | ID: mdl-32154876

RESUMO

BACKGROUND: Motor impairments are pervasive in Autism Spectrum Disorder (ASD); however, children with ASD rarely receive a dual diagnosis of Developmental Coordination Disorder (DCD). The Simons Foundation SPARK study engaged families affected by ASD through an online study. OBJECTIVES: The DCD parent questionnaire (DCDQ) was used to assess the prevalence of a risk for motor impairment or DCD in children with ASD between 5 and 15 years of age. DESIGN: This study utilizes parent reports from a large database of children with ASD. METHODS: A total of 16,705 parents of children with ASD completed the DCDQ. We obtained our final SPARK dataset (n = 11,814) after filtering out invalid data, using stronger cut-offs to confirm ASD traits, and excluding children with general neuromotor impairments/intellectual delays. We compared DCDQ total and subscale scores from the SPARK dataset with published norms for each age between 5 and 15 years. RESULTS: The proportion of children with ASD at risk for a motor impairment was very high at 86.9%. Children with ASD did not outgrow their motor impairments and continued to present with a risk for DCD even into adolescence. Yet, only 31.6% of children were receiving physical therapy services. LIMITATIONS: Our analysis of a large database of parent-reported outcomes using the DCDQ did not involve follow-up clinical assessments. CONCLUSIONS: Using a large sample of children with ASD, this study shows that a risk for motor impairment or DCD was present in most children with ASD and persists into adolescence; however, only a small proportion of children with ASD were receiving physical therapist interventions. A diagnosis of ASD must trigger motor screening, evaluations, and appropriate interventions by physical and occupational therapists to address the functional impairments of children with ASD while also positively impacting their social communication, cognition, and behavior. Using valid motor measures, future research must determine if motor impairment is a fundamental feature of ASD.


Assuntos
Transtorno do Espectro Autista/complicações , Transtornos Motores/etiologia , Transtornos das Habilidades Motoras/etiologia , Adolescente , Fatores Etários , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Criança , Pré-Escolar , Transtornos da Comunicação/epidemiologia , Bases de Dados Factuais , Inquéritos Epidemiológicos/estatística & dados numéricos , Humanos , Transtornos Motores/diagnóstico , Transtornos Motores/epidemiologia , Transtornos das Habilidades Motoras/diagnóstico , Transtornos das Habilidades Motoras/epidemiologia , Pais , Medição de Risco
8.
Ann Neurol ; 87(5): 763-773, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32129908

RESUMO

OBJECTIVE: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pathogenic mutations in the MECP2 gene. Motor impairment constitutes the core diagnostic feature of RTT. Preclinical studies have consistently demonstrated alteration of excitation/inhibition (E/I) balance and aberrant synaptic plasticity at the cortical level. We aimed to understand neurobiological mechanisms underlying motor deficit by assessing in vivo synaptic plasticity and E/I balance in the primary motor cortex (M1). METHODS: In 14 patients with typical RTT, 9 epilepsy control patients, and 11 healthy controls, we applied paired-pulse transcranial magnetic stimulation (TMS) protocols to evaluate the excitation index, a biomarker reflecting the contribution of inhibitory and facilitatory circuits in M1. Intermittent TMS-theta burst stimulation was used to probe long-term potentiation (LTP)-like plasticity in M1. Motor impairment, assessed by ad hoc clinical scales, was correlated with neurophysiological metrics. RESULTS: RTT patients displayed a significant increase of the excitation index (p = 0.003), as demonstrated by the reduction of short-interval intracortical inhibition and increase of intracortical facilitation, suggesting a shift toward cortical excitation likely due to GABAergic dysfunction. Impairment of inhibitory circuits was also confirmed by the reduction of long-interval intracortical inhibition (p = 0.002). LTP-like plasticity in M1 was abolished (p = 0.008) and scaled with motor disability (all p = 0.003). INTERPRETATION: TMS is a method that can be used to assess cortical motor function in RTT patients. Our findings support the introduction of TMS measures in clinical and research settings to monitor the progression of motor deficit and response to treatment. ANN NEUROL 2020;87:763-773.


Assuntos
Córtex Motor/fisiopatologia , Transtornos Motores/etiologia , Transtornos Motores/fisiopatologia , Síndrome de Rett/complicações , Síndrome de Rett/fisiopatologia , Feminino , Humanos , Potenciação de Longa Duração/fisiologia , Atividade Motora/fisiologia , Estimulação Magnética Transcraniana , Adulto Jovem
9.
Phys Ther ; 100(6): 979-994, 2020 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-32206812

RESUMO

BACKGROUND: Caregiver engagement and collaborative team early childhood intervention (ECI) services are international trends; however, relevant evidence of collaborative home-visiting ECI in rural areas is as yet undetermined. OBJECTIVE: The study aimed to investigate the effectiveness of a collaborative ECI program in a rural area of Taiwan. DESIGN: The study was a pilot randomized control led trial. METHODS: Children aged 6 to 33 months experiencing motor delays and their caregivers were enrolled in Taitung, Taiwan. Using stratified randomization, 24 participants were allocated to either experimental or control groups, and both received 5 home visits within 3 months. The experimental group received ECI services based on the International Classification of Functioning, Disability and Health framework and family-centered approaches. The control group received regular home visits by local social workers. Child outcomes included Pediatric Evaluation of Disability Inventory Chinese Version and Peabody Developmental Motor Scale, 2nd edition. Family outcomes included the Disability-Adapted Infant-Toddler version of Home Observation for Measurement, and Chinese versions of the Knowledge of Infant Development Inventory and Parental Stress Index-Short Form. A tester blinded to the study conducted assessments at baseline, postintervention, and 3-month follow-up. Two-way mixed analysis of variance was used with α = .05 (2-tailed). RESULTS: The experimental group improved scores on the Disability-Adapted Infant-Toddler version of Home Observation for Measurement significantly more than the control group with an effect size of 0.64 at follow-up. In other outcomes, both groups showed no significant differences. The follow-up rate was 69%, and adherence to the ECI program was acceptable. LIMITATIONS: A limitation of the study was the heterogeneity of the sample. CONCLUSIONS: This pilot study revealed possible effectiveness in implementing collaborative ECI programs based on family-centered approaches and the International Classification of Functioning, Disability and Health in rural areas. Larger field studies are needed to confirm our findings.


Assuntos
Deficiências do Desenvolvimento/reabilitação , Intervenção Médica Precoce/métodos , Visita Domiciliar/estatística & dados numéricos , Transtornos Motores/reabilitação , Avaliação de Programas e Projetos de Saúde , População Rural , Cuidadores/educação , Pré-Escolar , Relações Familiares , Humanos , Lactente , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Avaliação de Resultados em Cuidados de Saúde , Pais/psicologia , Fisioterapeutas , Projetos Piloto , Método Simples-Cego , Assistentes Sociais , Taiwan , Fatores de Tempo
10.
J Clin Neurosci ; 73: 150-154, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32001113

RESUMO

INTRODUCTION: STN-DBS has been claimed to change progressionsymptomsin animal models of PD, but information is lacking about the possible neuromodulatory role of STN-DBS in humans. The aim of this prospective controlled study was to evaluate the long-term impact of STN-DBS on motor disabilities and cognitive impairment in PD patients in comparison to Best-Medical-Therapy (BMT) and Long-term-Post-Operative (POP) groups. MATERIAL AND METHODS: Patients were divided into 3 groups: the BMT-group consisted of 20 patients treated only with pharmacotherapy, the DBS-group consisted of 20 PD patients who underwent bilateral STN-DBS (examined pre- and postoperatively) and the POP-group consisted of 14 long-term postoperative patients in median 30 month-time after DBS. UPDRS III scale was measured during 3 visits in 9 ± 2 months periods (V1, V2, V3) in total-OFF phase. Cognitive assessment was performed during each visit in total-ON phase. RESULTS: The comparable UPDRS III OFF gain was observed in both BMT-group and POP-group evaluations (p < 0.05). UPDRS III OFF results in DBS-group revealed significant UPDRS III OFF increase in ΔV2-V1 assessment (p < 0.05) with no significant UPDRS III OFF alteration in ΔV3-V2 DBS-group evaluation (p > 0.05). Cognitive assessment revealed significant alterations between DBS-group and BMT-group in working memory, executive functions and learning abilities (p < 0.05). CONCLUSIONS: The impact of STN-DBS on UPDRS III OFF score and cognitive alterations suggest its neuromodulatory role, mainly during the first 9-18 months after surgery.


Assuntos
Disfunção Cognitiva , Estimulação Encefálica Profunda/métodos , Transtornos Motores , Doença de Parkinson/complicações , Doença de Parkinson/terapia , Idoso , Antiparkinsonianos/uso terapêutico , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Motores/epidemiologia , Transtornos Motores/etiologia , Estudos Prospectivos , Núcleo Subtalâmico/fisiologia , Resultado do Tratamento
11.
Geriatr Gerontol Int ; 20(4): 312-316, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32006458

RESUMO

AIM: To evaluate the effectiveness and user satisfaction with the sit-to-stand (STS) assistance system of a smart walker (SW), and to identify factors associated with them in potential users. METHODS: A total of 33 older adults (29 women, aged ≥65 years) with motor impairments (habitual rollator use) and no severe cognitive impairment (Mini-Mental State Examination ≥17 points) carried out a Five-Chair Stand Test without assistance and five STS transfers with the STS assistance system. Based on the number of successfully completed STS transfers, success rates were calculated for the Five-Chair Stand Test and the SW-assisted STS transfers, and compared using the Wilcoxon signed-rank test. User satisfaction was assessed using the Tele-healthcare Satisfaction Questionnaire-Wearable Technology (0-80 points, higher score = higher satisfaction). Bivariate correlations and multiple linear regression analyses were used to identify participant characteristics associated with the success rate and user satisfaction with the STS assistance system. RESULTS: The success rate for the SW-assisted STS transfers was significantly higher than for the Five-Chair Stand Test (93.3 ± 12.9% vs 54.5 ± 50.6%, P < 0.001). User satisfaction was high (Tele-healthcare Satisfaction Questionnaire-Wearable Technology 62.5 ± 11.2 points). The success rate with the STS assistance system was not significantly associated with any participant characteristics. Higher body mass index was a significant independent predictor of higher user satisfaction. CONCLUSIONS: The SW-integrated STS assistance system can provide effective STS support with high user satisfaction for a wide range of potential users. Our findings suggest the high potential of the STS assistance system for promoting mobility, independence and quality of life for older adults with motor impairments. Geriatr Gerontol Int 2020; 20: 312-316.


Assuntos
Transtornos Motores/reabilitação , Robótica/normas , Andadores/normas , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Satisfação do Paciente , Qualidade de Vida , Inquéritos e Questionários
12.
Neurology ; 94(8): e802-e810, 2020 02 25.
Artigo em Inglês | MEDLINE | ID: mdl-31907290

RESUMO

OBJECTIVE: To assess the determinants of amyotrophic lateral sclerosis (ALS) phenotypes in a population-based cohort. METHODS: The study population included 2,839 patients with ALS diagnosed in Piemonte, Italy (1995-2015). Patients were classified according to motor (classic, bulbar, flail arm, flail leg, predominantly upper motor neuron [PUMN], respiratory) and cognitive phenotypes (normal, ALS with cognitive impairment [ALSci], ALS with behavioral impairment [ALSbi], ALSci and ALSbi combined [ALScbi], ALS-frontotemporal dementia [FTD]). Binary logistic regression analysis was adjusted for sex, age, and genetics. RESULTS: Bulbar phenotype correlated with older age (p < 0.0001), women were more affected than men at increasing age (p < 0.0001), classic with younger age (p = 0.029), men were more affected than women at increasing age (p < 0.0001), PUMN with younger age (p < 0.0001), flail arm with male sex (p < 0.0001) and younger age (p = 0.04), flail leg with male sex with increasing age (p = 0.008), and respiratory with male sex (p < 0.0001). C9orf72 expansions correlated with bulbar phenotype (p < 0.0001), and were less frequent in PUMN (p = 0.041); SOD1 mutations correlated with flail leg phenotype (p < 0.0001), and were less frequent in bulbar (p < 0.0001). ALS-FTD correlated with C9orf72 (p < 0.0001) and bulbar phenotype (p = 0.008), ALScbi with PUMN (p = 0.014), and ALSci with older age (p = 0.008). CONCLUSIONS: Our data suggest that the spatial-temporal combination of motor and cognitive events leading to the onset and progression of ALS is characterized by a differential susceptibility to the pathologic process of motor and prefrontal cortices and lower motor neurons, and is influenced by age, sex, and gene variants. The identification of those factors that regulate ALS phenotype will allow us to reclassify patients into pathologically homogenous subgroups, responsive to targeted personalized therapies.


Assuntos
Esclerose Amiotrófica Lateral/classificação , Esclerose Amiotrófica Lateral/epidemiologia , Proteína C9orf72/genética , Disfunção Cognitiva/epidemiologia , Demência Frontotemporal/epidemiologia , Transtornos Motores/epidemiologia , Superóxido Dismutase-1/genética , Fatores Etários , Idoso , Esclerose Amiotrófica Lateral/genética , Disfunção Cognitiva/genética , Comorbidade , Feminino , Demência Frontotemporal/classificação , Demência Frontotemporal/genética , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos Motores/classificação , Transtornos Motores/genética , Mutação , Fenótipo , Fatores Sexuais
13.
Ann Neurol ; 87(3): 383-393, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31925838

RESUMO

OBJECTIVE: Spontaneous recovery is an important determinant of upper extremity recovery after stroke and has been described by the 70% proportional recovery rule for the Fugl-Meyer motor upper extremity (FM-UE) scale. However, this rule is criticized for overestimating the predictability of FM-UE recovery. Our objectives were to develop a longitudinal mixture model of FM-UE recovery, identify FM-UE recovery subgroups, and internally validate the model predictions. METHODS: We developed an exponential recovery function with the following parameters: subgroup assignment probability, proportional recovery coefficient r k , time constant in weeks τ k , and distribution of the initial FM-UE scores. We fitted the model to FM-UE measurements of 412 first-ever ischemic stroke patients and cross-validated endpoint predictions and FM-UE recovery cluster assignment. RESULTS: The model distinguished 5 subgroups with different recovery parameters ( r1 = 0.09, τ1 = 5.3, r2 = 0.46, τ2 = 10.1, r3 = 0.86, τ3 = 9.8, r4 = 0.89, τ4 = 2.7, r5 = 0.93, τ5 = 1.2). Endpoint FM-UE was predicted with a median absolute error of 4.8 (interquartile range [IQR] = 1.3-12.8) at 1 week poststroke and 4.2 (IQR = 1.3-9.8) at 2 weeks. Overall accuracy of assignment to the poor (subgroup 1), moderate (subgroups 2 and 3), and good (subgroups 4 and 5) FM-UE recovery clusters was 0.79 (95% equal-tailed interval [ETI] = 0.78-0.80) at 1 week poststroke and 0.81 (95% ETI = 0.80-0.82) at 2 weeks. INTERPRETATION: FM-UE recovery reflects different subgroups, each with its own recovery profile. Cross-validation indicates that FM-UE endpoints and FM-UE recovery clusters can be well predicted. Results will contribute to the understanding of upper limb recovery patterns in the first 6 months after stroke. ANN NEUROL 2020;87:383-393 Ann Neurol 2020;87:383-393.


Assuntos
Modelos Neurológicos , Transtornos Motores/diagnóstico , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Adulto , Idoso , Idoso de 80 Anos ou mais , Avaliação da Deficiência , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Transtornos Motores/fisiopatologia , Prognóstico , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/fisiopatologia , Reabilitação do Acidente Vascular Cerebral , Fatores de Tempo , Extremidade Superior/fisiopatologia
14.
Life Sci ; 241: 117163, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31837337

RESUMO

AIMS: The high sugar and lipid content of the Western diet (WD) is associated with metabolic dysfunction, non-alcoholic steatohepatitis, and it is an established risk factor for neuropsychiatric disorders. Our previous studies reported negative effects of the WD on rodent emotionality, impulsivity, and sociability in adulthood. Here, we investigated the effect of the WD on motor coordination, novelty recognition, and affective behavior in mice as well as molecular and cellular endpoints in brain and peripheral tissues. MAIN METHODS: Female C57BL/6 J mice were fed the WD for three weeks and were investigated for glucose tolerance, insulin resistance, liver steatosis, and changes in motor coordination, object recognition, and despair behavior in the swim test. Lipids and liver injury markers, including aspartate-transaminase, alanine-transaminase and urea were measured in blood. Serotonin transporter (SERT) expression, the density of Iba1-positive cells and concentration of malondialdehyde were measured in brain. KEY FINDINGS: WD-fed mice exhibited impaired glucose tolerance and insulin resistance, a loss of motor coordination, deficits in novel object exploration and recognition, increased helplessness, dyslipidemia, as well as signs of a non-alcoholic steatohepatitis (NASH)-like syndrome: liver steatosis and increased liver injury markers. Importantly, these changes were accompanied by decreased SERT expression, elevated numbers of microglia cells and malondialdehyde levels in, and restricted to, the prefrontal cortex. SIGNIFICANCE: The WD induces a spectrum of behaviors that are more reminiscent of ADHD and ASD than previously recognized and suggests that, in addition to the impairment of impulsivity and sociability, the consumption of a WD might be expected to exacerbate motor dysfunction that is also known to be associated with adult ADHD and ASD.


Assuntos
Transtornos Cognitivos/etiologia , Dieta Ocidental/efeitos adversos , Inflamação/etiologia , Transtornos Motores/etiologia , Hepatopatia Gordurosa não Alcoólica/etiologia , Córtex Pré-Frontal/patologia , Animais , Comportamento Animal , Transtornos Cognitivos/patologia , Feminino , Inflamação/patologia , Camundongos , Camundongos Endogâmicos C57BL , Transtornos Motores/patologia , Hepatopatia Gordurosa não Alcoólica/patologia , Córtex Pré-Frontal/imunologia
15.
Qual Life Res ; 29(2): 413-420, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31564022

RESUMO

PURPOSE: Friedreich ataxia (FRDA) is a chronic, progressive and highly disabling cerebellar degenerative disease. Despite this, little attention has been paid to the health-related quality of life (HRQOL) in this disease. The aim of the present study was to assess FRDA patients' perception of HRQOL and to determine the influence of depression, and demographic and clinical variables. METHOD: The sample consisted of 62 patients with genetically confirmed FRDA. The SF-36 Health Survey was used to assess HRQOL. Depressive symptoms were evaluated with the Beck Depression Inventory-II. RESULTS: FRDA patients' mean scores were significantly lower than the values for the Spanish population in all SF36 dimensions. Average z scores ranged from - 5.5 in physical functioning to - 0.48 in mental health. Age and clinical variables were significant predictors of HRQOL in only several dimensions, whereas BDI scores were able to predict a significant percentage of variance in all SF36 dimensions, except physical functioning. CONCLUSIONS: Our study demonstrates the high impact of Friedreich ataxia on quality of life. This impact does not only occur in those aspects most related to motor disability but it is also present in non-motor dimensions. Depressive symptomatology is the most relevant variable for predicting quality of life.


Assuntos
Depressão , Ataxia de Friedreich , Qualidade de Vida , Adulto , Demografia , Pessoas com Deficiência , Feminino , Ataxia de Friedreich/complicações , Ataxia de Friedreich/psicologia , Inquéritos Epidemiológicos , Humanos , Masculino , Saúde Mental , Pessoa de Meia-Idade , Transtornos Motores
16.
Pediatrics ; 145(1)2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31843861

RESUMO

Early identification and intervention for developmental disorders are critical to the well-being of children and are the responsibility of pediatric professionals as an integral function of the medical home. This report models a universal system of developmental surveillance and screening for the early identification of conditions that affect children's early and long-term development and achievement, followed by ongoing care. These conditions include autism, deafness/hard-of-hearing, intellectual and motor disabilities, behavioral conditions, and those seen in other medical conditions. Developmental surveillance is supported at every health supervision visit, as is as the administration of standardized screening tests at the 9-, 18-, and 30-month visits. Developmental concerns elicited on surveillance at any visit should be followed by standardized developmental screening testing or direct referral to intervention and specialty medical care. Special attention to surveillance is recommended at the 4- to 5-year well-child visit, prior to entry into elementary education, with screening completed if there are any concerns. Developmental surveillance includes bidirectional communication with early childhood professionals in child care, preschools, Head Start, and other programs, including home visitation and parenting, particularly around developmental screening. The identification of problems should lead to developmental and medical evaluations, diagnosis, counseling, and treatment, in addition to early developmental intervention. Children with diagnosed developmental disorders are identified as having special health care needs, with initiation of chronic condition management in the pediatric medical home.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Doença Crônica , Deficiências do Desenvolvimento/reabilitação , Intervenção Educacional Precoce , Transtornos da Audição/diagnóstico , Humanos , Lactente , Deficiência Intelectual/diagnóstico , Transtornos Motores/diagnóstico
17.
Oxid Med Cell Longev ; 2019: 6798140, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31827693

RESUMO

Haematological indexes of both inflammation and platelet activation have been suggested as predictive markers of cardiovascular disease (CVD), which has high prevalence in Paralympic athletes (PA). Different mechanisms could play a role in increasing CVD risk in PA with spinal cord injury (PA-SCI), lower limb amputation (PA-LLA), or upper limb impairment (PA-ULI). We compared, in 4 groups of PA competing in power, intermittent (mixed metabolism), and endurance sports, Framingham Risk Score (FRS), metabolic syndrome criteria (MetS-C), inflammation (INFLA) Score, 5 haematological indexes of platelet activation (mean platelet volume (MPV), platelet distribution width (PDW), and the ratios between MPV and platelet (MPVPR), between MPV and lymphocyte (MPVLR), and between PDW and lymphocyte (PDWLR)) and the endogenous antioxidants uric acid (UA) and bilirubin (BR). A retrospective chart review of PA from preparticipation examinations' records (London 2012 and Sochi 2014 Paralympics) was performed. We included 25 PA-SCI (13 with high and 12 with low lesion, PA-SCI-H and PA-SCI-L), 15 PA-LLA, and 10 PA-ULI. FRS and INFLA Score did not differ among groups, but PA-SCI-H had lower HDL, compared to PA-SCI-L and PA-ULI. PA-LLA had more MetS diagnostic criteria with significant higher glucose levels than other groups. PA-SCI-H had significantly lower lymphocytes' count compared to PA-LLA and higher MPV, PDW, MPVPR, MPVLR, and PDWLR. SCI-H had lower BR, haemoglobin, haematocrit, proteins, and creatinine. No interaction was found between the 3 kinds of sitting sports and the 2 groups of health conditions (PA-SCI and PA-LLA). In conclusion, PA-LLA had a higher cardiometabolic risk, whereas PA-SCI-H had a higher platelet-derived cardiovascular risk. Further larger studies are needed to investigate the relationship between indexes of inflammation/oxidation and dietary habit, body composition, and physical fitness/performance in PA with motor impairments.


Assuntos
Biomarcadores/análise , Doenças Cardiovasculares/diagnóstico , Mediadores da Inflamação/metabolismo , Inflamação/diagnóstico , Síndrome Metabólica/diagnóstico , Transtornos Motores/complicações , Paratletas/estatística & dados numéricos , Adulto , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Humanos , Inflamação/etiologia , Inflamação/metabolismo , Masculino , Volume Plaquetário Médio , Síndrome Metabólica/etiologia , Síndrome Metabólica/metabolismo , Ativação Plaquetária , Estudos Retrospectivos
18.
NeuroRehabilitation ; 45(3): 311-322, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31796696

RESUMO

BACKGROUND: Individuals with extensive neuro-motor impairment and lack of speech tend to remain passive and isolated, and to rely on others for communication and leisure. While their problems are known, only limited evidence is available about intervention tools that could help them curb those problems. OBJECTIVE: This study was aimed at upgrading and assessing a smartphone-based technology package, which was recently developed to help those individuals to independently engage in basic communication and leisure. METHODS: The study included 11 non-ambulatory participants who had no speech or functional active communication. They were provided with (a) a Samsung A3 smartphone with Android 6.0 Operating System, which was fitted with WhatsApp Messenger and programmed via MacroDroid, and (b) cards fitted with radio frequency identification (RFID) tags. By bringing those cards in contact with the back of the smartphone, the participant could start a communication event (e.g., sending a message to a friend) or activate a leisure event (e.g., a song). The smartphone would automatically read to the participant any incoming messages. RESULTS: During the baseline (i.e., when a standard smartphone was available), the participants were unable to engage in communication or leisure. Once the aforementioned technology package was introduced, the participants spent between about 65 and 85% of their session time engaging in communication and leisure. CONCLUSIONS: The smartphone-based technology package seems to be a useful tool to support basic communication and leisure in individuals like those involved in this study.


Assuntos
Auxiliares de Comunicação para Pessoas com Deficiência , Comunicação , Transtornos Motores/reabilitação , Doenças do Sistema Nervoso/reabilitação , Smartphone , Distúrbios da Fala/reabilitação , Adulto , Idoso , Idoso de 80 Anos ou mais , Auxiliares de Comunicação para Pessoas com Deficiência/tendências , Feminino , Humanos , Atividades de Lazer/psicologia , Masculino , Pessoa de Meia-Idade , Transtornos Motores/psicologia , Doenças do Sistema Nervoso/psicologia , Projetos Piloto , Smartphone/tendências , Fala/fisiologia , Distúrbios da Fala/psicologia
19.
Ugeskr Laeger ; 181(45)2019 11 04.
Artigo em Dinamarquês | MEDLINE | ID: mdl-31791450

RESUMO

This case report describes a three-year-old boy with delayed development of language, who developed erythema migrans. Soon after peroral antibiotics was initiated, he also had loss of motoric function, and he developed ataxia. Neuroborreliosis was diagnosed, and antibiotic treatment was changed to intravenous. There was no gain of his motoric skills. A test was made for lysosomal storage disease, and neuronal ceroid lipofuscinosis type 2 was found. The patient started intraventricular enzyme substitution treatment as the first patient in Denmark. Treatment has shown to reduce the progression of functional decline.


Assuntos
Eritema Migrans Crônico , Doenças por Armazenamento dos Lisossomos , Transtornos Motores , Lipofuscinoses Ceroides Neuronais , Pré-Escolar , Dinamarca , Progressão da Doença , Eritema Migrans Crônico/complicações , Humanos , Doenças por Armazenamento dos Lisossomos/complicações , Doenças por Armazenamento dos Lisossomos/diagnóstico , Masculino , Transtornos Motores/etiologia , Lipofuscinoses Ceroides Neuronais/complicações , Lipofuscinoses Ceroides Neuronais/diagnóstico
20.
PLoS One ; 14(12): e0220429, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31834922

RESUMO

Mucopolysaccharidosis Type I (MPS I) is a rare genetic lysosomal storage disease caused by a mutation of IDUA gene. IDUA codes for α-L-iduronidase (IDUA), a lysosomal hydrolase that degrades glycosaminoglycans (GAGs): heparan sulphate and dermatan sulphate. GAGs are structural and signalling molecules that have a crucial role in controlling a variety of cell functions and their interaction with the extracellular matrix. Because of GAG's widespread action in cellular metabolism, MPS I is a progressive and disabling multisystemic disorder. Nowadays, the therapies available allowed patients to reach the adult life and the consequences of the disease in their reproductive system are mostly unknown. We aimed to investigate whether IDUA disruption influences sexual behaviour and sexual steroid production in male and female MPS I mice. We used 3 and 6-month-old male and 3-month-old female Idua+/_ and Idua-/- mice to evaluate typical rodent copulatory behaviours. In males we observed the frequency and latency of mounts, intromissions and ejaculations. In females, we evaluated the lordosis quotient. We also analysed the locomotor capacity of mice in the open field test, since mobility is essential for copulatory behaviour. We also quantified steroidal hormonal levels in plasmatic samples. We detected an increase in the latencies of intromissions in Idua-/- males when compared to Idua+/_. However, the number of intromissions was not statistically different between groups. No parameter of female sexual behaviour was statistically different between control and knockout females. In both sexes, we detected diminished mobility in Idua-/- mice. Plasma hormone levels did not differ between Idua+/_ and Idua-/- mice, both in males and females. Although the motor disability predicted to MPS I animals, we concluded that in the considered time point of MPS I progression studied, mice are able to perform sexual behaviour.


Assuntos
Iduronidase/genética , Mucopolissacaridose I/fisiopatologia , Comportamento Sexual/fisiologia , Animais , Modelos Animais de Doenças , Progressão da Doença , Feminino , Glicosaminoglicanos/metabolismo , Iduronidase/metabolismo , Doenças por Armazenamento dos Lisossomos/genética , Doenças por Armazenamento dos Lisossomos/fisiopatologia , Lisossomos/metabolismo , Masculino , Camundongos , Camundongos Knockout , Transtornos Motores , Mucopolissacaridose I/genética , Mutação
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