RESUMO
BACKGROUND: Falls are a serious health threat for people with Parkinson's disease. Dynamic gait stability has been associated with fall risk. Developing effective fall prevention interventions requires a sound understanding of how Parkinson's disease affects dynamic gait stability. This study compared dynamic gait stability within the Feasible Stability Region framework between people with and without Parkinson's disease during level walking at a self-selected speed. METHODS: Twenty adults with Parkinson's disease and twenty age- and gender-matched healthy individuals were recruited. Dynamic gait stability at two gait instants: touchdown and liftoff, was assessed as the primary outcome measurement. Spatiotemporal gait parameters, including stance phase duration, step length, gait speed, and cadence were determined as explanatory variables. FINDINGS: People with Parkinson's disease walked more slowly (p < 0.001) with a shorter step (p = 0.05), and prolonged stance phase (p = 0.04) than their healthy peers with moderate to large effect sizes. Dynamic gait stability did not show any group-associated differences (p > 0.36). INTERPRETATION: Despite the different gait parameters between groups, people with Parkinson's disease exhibited similar dynamic gait stability to their healthy counterparts. To compensate for the potential dynamic gait stability deficit resulting from slow gait speed, individuals with Parkinson's disease adopted a short step length to shift the center of mass motion state closer to the Feasible Stability Region. Our findings could provide insight into the impact of Parkinson's disease on the control of dynamic gait stability.
Assuntos
Marcha , Doença de Parkinson , Equilíbrio Postural , Humanos , Doença de Parkinson/fisiopatologia , Doença de Parkinson/complicações , Masculino , Feminino , Idoso , Equilíbrio Postural/fisiologia , Pessoa de Meia-Idade , Transtornos Neurológicos da Marcha/fisiopatologia , Transtornos Neurológicos da Marcha/etiologia , Acidentes por Quedas/prevenção & controle , Caminhada , Fenômenos BiomecânicosRESUMO
BACKGROUND: Perturbation training, built upon motor adaptation and learning, has been increasingly used as a fall prevention paradigm in older adults. This training paradigm involves repeated externally-induced perturbations (like slips) to facilitate the error-driven learning of necessary motor skills for preventing falls. It remains unknown if people with multiple sclerosis can adapt to large-scale slip perturbations, which impedes the application of perturbation training in persons with multiple sclerosis. This study explored whether people with multiple sclerosis can adapt to large-scale repeated gait-slips. METHODS: Thirteen individuals with multiple sclerosis (the mean ± standard deviation of the Patient Determined Disability Steps: 2.27 ± 1.42) were exposed unexpectedly to a block of five repeated standard slips while walking on a treadmill. The outcome (fall or recovery) for each slip, as our primary outcome measure, was determined. A battery of secondary variables, including dynamic gait stability and gait parameters, were also calculated. Both primary and secondary variables were compared across trials. RESULTS: Our participants showed a rapidly reduced slip-fall rate (from 92.3% on the first slip to 30.8% on the fifth, p < 0.001). They mainly adopted proactive, assisted by reactive, strategies to improve dynamic gait stability, thus reducing the risk of slip-falls. The proactive adjustments, including shortened step, reduced foot landing angle, and flexed knee, shifted the center of mass anteriorly to be closer to the base of support. Such changes in center of mass position improved dynamic gait stability before the slip. Dynamic gait stability after the slip was also improved across trials, as a reactive strategy. CONCLUSION: With practice, people with multiple sclerosis can adapt to large-scale, high-speed, gait-slips and acquire necessary skills against falls. Such skills primarily involve proactive strategy which is assisted by reactive strategy. The proactive strategy would shift the body's center of mass closer to the base of support, improving dynamic gait stability and reducing falls. Our findings could provide a theoretical foundation for deploying perturbation training to prevent falls in people with multiple sclerosis.
Assuntos
Acidentes por Quedas/prevenção & controle , Adaptação Fisiológica/fisiologia , Marcha/fisiologia , Esclerose Múltipla/fisiopatologia , Caminhada/fisiologia , Adulto , Fenômenos Biomecânicos , Avaliação da Deficiência , Teste de Esforço , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Velocidade de Caminhada/fisiologiaRESUMO
BACKGROUND: Mobility impairment is common in people with multiple sclerosis (MS). Gait speed has shown strong correlations with other mobility measures in MS. The purpose of this study was to assess the relative importance of a battery of factors in determining gait speed among people with MS. METHODS: Thirty-one individuals with MS (the mean (standard deviation) of the Patient Determined Disability Steps: 3.68(1.70)) participated in this cross-sectional observational study. Their gait speed was assessed using the Timed-25-Foot Walking test. Six factors which could slow gait speed in MS, including the strength capacity at knee joints, functional mobility, body balance, dorsiflexion range of motion of ankle joints, bilateral foot cutaneous sensation level, and the fear of falling, were also assessed. Multiple regression and relative weight analysis were used to identify the relative importance of each factor in explaining the gait speed variation. RESULTS: All six factors together accounted for about 86% of the observed variation in gait speed; each explaining a statistically significant amount. The most important factor was the strength measurement (relative weightâ¯=â¯0.321) which accounted for 37.2% of the explained variation in gait speed. CONCLUSION: Muscle strength, particularly the knee joint strength capacity, could be a principal factor determining gait speed in people with mild to moderate MS. Other factors also significantly affect gait speed in this population. The findings from this study could provide guidance in terms of prioritizing actions to improve gait speed in people with MS.
Assuntos
Marcha , Esclerose Múltipla/fisiopatologia , Esclerose Múltipla/psicologia , Acidentes por Quedas , Estudos Transversais , Feminino , Análise da Marcha , Humanos , Masculino , Pessoa de Meia-Idade , Limitação da Mobilidade , Esclerose Múltipla/complicações , Teste de Caminhada , Velocidade de CaminhadaRESUMO
47,XXY/Klinefelter syndrome is the most common sex chromosomal aneuploidy, yet 64% of males with this condition go undiagnosed. 48,XXYY is less common and there is less known about the diagnosis. The objective of this study is to describe the diagnosis experiences of parents of males with 47,XXY and 48,XXYY. Parents of 89 males with 47,XXY and 76 males with 48,XXYY completed a survey that gathered data about their experiences leading to a diagnosis, including the current age of the child, age at diagnosis, reasons for initial concern, and the specialists providing the diagnosis. In the 47,XXY cohort diagnosed postnatally, 59% presented with developmental delay, with a mean age at first parental concern of 5.2 years and mean age of diagnosis at 10.0 years. The remaining 41% presented with endocrinologic issues with a mean age at first concern of 19.1 years and mean age of diagnosis at 21.1 years. In the 48,XXYY group, 93% presented with developmental delay, with mean age at first parental concern of 2.4 years and mean age of diagnosis at 7.6 years. Hence, the average time from initial parental concern to diagnosis of 47,XXY or 48,XXYY ranges from 2 to 5 years, with those presenting with developmental issues having a longer lag to diagnosis compared to those presenting with endocrinologic issues. Increased awareness of the developmental, psychological, and medical features of 47,XXY and 48,XXYY is important to facilitate timely diagnosis and initiation of appropriate screenings and treatments that are important for optimal outcomes.
Assuntos
Deficiências do Desenvolvimento/diagnóstico , Síndrome de Klinefelter/diagnóstico , Pais/psicologia , Adolescente , Adulto , Criança , Pré-Escolar , Coleta de Dados , Deficiências do Desenvolvimento/genética , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Síndrome de Klinefelter/genética , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Adulto JovemRESUMO
INTRODUCTION: We investigated olfactory defects in fragile X-associated tremor/ataxia syndrome (FXTAS), a finding reported on in other neurodegenerative disorders with clinical features that overlap those of FXTAS. METHODS: We measured olfactory identification capacity in 41 FMR1 premutation carriers and 42 controls using the University of Pennsylvania Smell Identification Test (UPSIT). Carriers received neurologic evaluations using motor rating scales for tremor, ataxia, and parkinsonism. Cognitive function was measured using the Montreal Cognitive Assessment test. RESULTS: Frequency of olfactory defects was higher in carriers, compared to controls (61% versus 29%; P = 0.003). There was no statistically significant group difference in severity of olfaction defects, after accounting for differences in age, and in rates of head injury and smoking. However, both the frequency (odds ratio = 3.9; 95% confidence interval: 0.81-19.1) and severity (28.6 versus 33.4; P = 0.01) of these defects were greater in cognitively impaired, compared to cognitively intact, carriers. There was no correlation between UPSIT scores and the above-mentioned motor rating scales. CONCLUSIONS: FMR1 premutation carriers are susceptible to olfactory identification defects. The severity of these defects is comparable to that reported in hereditary ataxias, but less than that in PD and Alzheimer's disease. This concurrence across neurodegenerative disorders suggests a shared system vulnerability that correlates with, but is not limited to, cognitive impairment, because it is also found in cognitively intact carriers. These results need to be corroborated in a larger prospective study of FMR1 premutation carriers that extends beyond olfactory identification to include measures of smell thresholds.
Assuntos
Ataxia/complicações , Síndrome do Cromossomo X Frágil/complicações , Transtornos do Olfato/etiologia , Tremor/complicações , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Transtornos do Olfato/diagnóstico , Índice de Gravidade de DoençaRESUMO
The objective of this paper was to assess the phenotypic variance in patients with the Fragile X-associated Tremor Ataxia Syndrome (FXTAS) and to further elucidate genotype-phenotype correlations in the illness. A second goal was to generate hypotheses regarding symptom progression based on careful histories in our sample that can now be tested in ongoing longitudinal studies. The variability of clinical signs and symptom progression in FXTAS complicates our understanding of its phenotype and presents a series of problems in clinical trial design. Similarly, pre-motor and non-motor symptoms have not been adequately explored to answer outstanding questions regarding genotype-phenotype associations in FXTAS. This was a cross-sectional study of FMR1 premutation carriers from known fragile X syndrome pedigrees. We report on the first 50 subjects who have completed a full neurologic evaluation and a brain MRI. Subjects were selected on the basis of motor symptoms or abnormal results (>1 SD) on a quantitative instrument designed to detect mild tremor and ataxia (CATSYS 1994). A neuropsychological battery included the WAIS-III, COWA, and WCST. Statistical analysis used ANOVA and Fisher's exact test with p < 0.05. All FMR1 premutation carriers were men of mean age 65 ± 7 years. According to the diagnostic criteria of Jacquemont et al. (Am J Hum Genet 72(4):869-878, 2003), 21 subjects met criteria for definite FXTAS, 10 for probable, 9 for possible, and 10 were indeterminate. Duration of motor symptoms was significantly longer in the definitive group (8.6 ± 6) compared to the other groups (p < 0.01). The presentations in 40 subjects, excluding the indeterminate group, included: tremor 24, ataxia 5, memory symptoms 3, parkinsonism 2, and torticollis 1. The data suggest at least two dominant phenotypic presentations: (a) a tremor-dominant subtype in which the onset of ataxia is delayed; (b) a second in which ataxia is the dominant presentation from the outset. In both subtypes, once ataxia emerges it tends to track frontal cognitive changes (p < 0.01). The data support the view that FXTAS is a late-life neurodegenerative disorder with involvement of motor, non-motor, and cognitive systems. The results suggest at least two presentations with tremor- and ataxia-predominant phenotypes. In both, global cognitive decline appears to track ataxia. Prospective longitudinal studies are needed to validate this proposed evolution of FXTAS and its relevance to future clinical trials design.