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1.
J Sports Sci ; 39(sup1): 62-72, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34092196

RESUMO

The current protocol for classifying Para swimmers with hypertonia, ataxia and athetosis involves a physical assessment where the individual's ability to coordinate their limbs is scored by subjective clinical judgment. The lack of objective measurement renders the current test unsuitable for evidence-based classification. This study evaluated a revised version of the Para swimming assessment for motor coordination, incorporating practical, objective measures of movement smoothness, rhythm error and accuracy. Nineteen Para athletes with hypertonia and 19 non-disabled participants performed 30 s trials of bilateral alternating shoulder flexion-extension at 30 bpm and 120 bpm. Accelerometry was used to quantify movement smoothness; rhythm error and accuracy were obtained from video. Para athletes presented significantly less smooth movement and higher rhythm error than the non-disabled participants (p < 0.05). Random forest algorithm successfully classified 89% of participants with hypertonia during out-of-bag predictions. The most important predictors in classifying participants were movement smoothness at both movement speeds, and rhythm error at 120 bpm. Our results suggest objective measures of movement smoothness and rhythm error included in the current motor coordination test protocols can be used to infer impairment in Para swimmers with hypertonia. Further research is merited to establish the relationship of these measures with swimming performance.


Assuntos
Paralisia Cerebral/fisiopatologia , Hipertonia Muscular/fisiopatologia , Desempenho Psicomotor/fisiologia , Esportes para Pessoas com Deficiência/fisiologia , Natação/fisiologia , Acelerometria , Adulto , Algoritmos , Ataxia/fisiopatologia , Atetose/fisiopatologia , Desempenho Atlético/fisiologia , Fenômenos Biomecânicos/fisiologia , Feminino , Humanos , Masculino , Movimento/fisiologia , Hipertonia Muscular/classificação , Paratletas/classificação , Desempenho Físico Funcional , Amplitude de Movimento Articular/fisiologia , Ombro/fisiologia , Esportes para Pessoas com Deficiência/classificação , Natação/classificação , Gravação em Vídeo , Adulto Jovem
2.
J Sports Sci ; 39(sup1): 159-166, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33337948

RESUMO

RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled frame that has a saddle, handle bars and a chest plate. For RaceRunning to be included as a para athletics event, an evidence-based classification system is required. This study assessed the impact of trunk control and lower limb impairment measures on RaceRunning performance and evaluated whether cluster analysis of these impairment measures produces a valid classification structure for RaceRunning. The Trunk Control Measurement Scale (TCMS), Selective Control Assessment of the Lower Extremity (SCALE), the Australian Spasticity Assessment Scale (ASAS), and knee extension were recorded for 26 RaceRunning athletes. Thirteen male and 13 female athletes aged 24 (SD = 7) years participated. All impairment measures were significantly correlated with performance (rho = 0.55-0.74). Using ASAS, SCALE, TCMS and knee extension as cluster variables in a two-step cluster analysis resulted in two clusters of athletes. Race speed and the impairment measures were significantly different between the clusters (p < 0.001). The findings of this study provide evidence for the utility of the selected impairment measures in an evidence-based classification system for RaceRunning athletes.


Assuntos
Ataxia/classificação , Atetose/classificação , Hipertonia Muscular/classificação , Corrida/classificação , Esportes para Pessoas com Deficiência/classificação , Tronco/fisiopatologia , Adolescente , Adulto , Ataxia/fisiopatologia , Atetose/fisiopatologia , Desempenho Atlético , Lesão Encefálica Crônica/classificação , Lesão Encefálica Crônica/fisiopatologia , Paralisia Cerebral/classificação , Paralisia Cerebral/fisiopatologia , Análise por Conglomerados , Desenho de Equipamento , Feminino , Humanos , Articulação do Joelho/fisiopatologia , Extremidade Inferior/fisiopatologia , Masculino , Hipertonia Muscular/fisiopatologia , Espasticidade Muscular/classificação , Espasticidade Muscular/fisiopatologia , Força Muscular , Amplitude de Movimento Articular/fisiologia , Corrida/fisiologia , Equipamentos Esportivos , Esportes para Pessoas com Deficiência/fisiologia , Adulto Jovem
3.
Ann Neurol ; 89(3): 573-586, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33325057

RESUMO

OBJECTIVE: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A (GABAA ) receptor subunit ß2. METHODS: We recruited and systematically evaluated 25 individuals with variants in GABRB2, 17 of whom are newly described and 8 previously reported with additional clinical data. Functional analysis was performed using a Xenopus laevis oocyte model system. RESULTS: Our cohort of 25 individuals from 22 families with variants in GABRB2 demonstrated a range of epilepsy phenotypes from genetic generalized epilepsy to developmental and epileptic encephalopathy. Fifty-eight percent of individuals had pharmacoresistant epilepsy; response to medications targeting the GABAergic pathway was inconsistent. Developmental disability (present in 84%) ranged from mild intellectual disability to severe global disability; movement disorders (present in 44%) included choreoathetosis, dystonia, and ataxia. Disease-associated variants cluster in the extracellular N-terminus and transmembrane domains 1-3, with more severe phenotypes seen in association with variants in transmembrane domains 1 and 2 and the allosteric binding site between transmembrane domains 2 and 3. Functional analysis of 4 variants in transmembrane domains 1 or 2 (p.Ile246Thr, p.Pro252Leu, p.Ile288Ser, p.Val282Ala) revealed strongly reduced amplitudes of GABA-evoked anionic currents. INTERPRETATION: GABRB2-related epilepsy ranges broadly in severity from genetic generalized epilepsy to developmental and epileptic encephalopathies. Developmental disability and movement disorder are key features. The phenotypic spectrum is comparable to other GABAA receptor-encoding genes. Phenotypic severity varies by protein domain. Experimental evidence supports loss of GABAergic inhibition as the mechanism underlying GABRB2-associated neurodevelopmental disorders. ANN NEUROL 2021;89:573-586.


Assuntos
Epilepsia/fisiopatologia , Transtornos dos Movimentos/fisiopatologia , Transtornos do Neurodesenvolvimento/fisiopatologia , Receptores de GABA-A/genética , Adolescente , Adulto , Animais , Ataxia/genética , Ataxia/fisiopatologia , Atetose/genética , Atetose/fisiopatologia , Criança , Pré-Escolar , Coreia/genética , Coreia/fisiopatologia , Estudos de Coortes , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia Resistente a Medicamentos/genética , Epilepsia Resistente a Medicamentos/fisiopatologia , Distonia/genética , Distonia/fisiopatologia , Epilepsia/genética , Feminino , Genótipo , Humanos , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/genética , Mutação de Sentido Incorreto , Transtornos do Neurodesenvolvimento/genética , Oócitos , Técnicas de Patch-Clamp , Fenótipo , Domínios Proteicos/genética , Xenopus laevis , Adulto Jovem
4.
Gait Posture ; 61: 362-367, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29433091

RESUMO

OBJECTIVES: RaceRunning enables athletes with limited or no walking ability to propel themselves independently using a three-wheeled running bike that has a saddle and a chest plate for support but no pedals. For RaceRunning to be included as a Para athletics event, an evidence-based classification system is required. Therefore, the aim of this study was to assess the association between a range of impairment measures and RaceRunning performance. METHODS: The following impairment measures were recorded: lower limb muscle strength assessed using Manual Muscle Testing (MMT), selective voluntary motor control assessed using the Selective Control Assessment of the Lower Extremity (SCALE), spasticity recorded using both the Australian Spasticity Assessment Score (ASAS) and Modified Ashworth Scale (MAS), passive range of motion (ROM) of the lower extremities and the maximum static step length achieved on a stationary bike (MSSL). Associations between impairment measures and 100-meter race speed were assessed using Spearman's correlation coefficients. RESULTS: Sixteen male and fifteen female athletes (27 with cerebral palsy), aged 23 (SD = 7) years, Gross Motor Function Classification System levels ranging from II to V, participated. The MSSL averaged over both legs and the ASAS, MAS, SCALE, and MMT summed over all joints and both legs, significantly correlated with 100 m race performance (rho: 0.40-0.54). Passive knee extension was the only ROM measure that was significantly associated with race speed (rho = 0.48). CONCLUSION: These results suggest that lower limb spasticity, isometric leg strength, selective voluntary motor control and passive knee extension impact performance in RaceRunning athletes. This supports the potential use of these measures in a future evidence-based classification system.


Assuntos
Ataxia/fisiopatologia , Atetose/fisiopatologia , Atletas , Extremidade Inferior/fisiopatologia , Hipertonia Muscular/fisiopatologia , Espasticidade Muscular/fisiopatologia , Corrida/fisiologia , Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Amplitude de Movimento Articular/fisiologia , Adulto Jovem
6.
Eur J Paediatr Neurol ; 21(2): 327-335, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27707657

RESUMO

AIM: To relate dystonia and choreoathetosis with activity, participation and quality of life (QOL) in children and youth with dyskinetic Cerebral Palsy (CP). METHODS: Fifty-four participants with dyskinetic CP (mean age 14y6m, SD 4y2m, range 6-22y) were included. The Dyskinesia Impairment Scale (DIS) was used to evaluate dystonia and choreoathetosis. Activity, participation and quality of life (QOL) were assessed with the Gross Motor Function Measure (GMFM), the Functional Mobility Scale (FMS), the Jebsen-Taylor Hand Function Test (JTT), the ABILHAND-Kids Questionnaire (ABIL-K), the Life Habits Kids (LIFE-H) and the Quality of Life Questionnaire for children with CP (CP-QOL). Spearman's rank correlation coefficient (rs) was used to assess the relationship between the movement disorders and activity, participation and QOL measures. RESULTS: Significant negative correlations were found between dystonia and the activity scales with Spearman's rank correlation coefficient (rs) varying between -0.65 (95% CI = -0.78 to -0.46) and -0.71 (95% CI = -0,82 to -0.55). Correlations were also found with the LIFE-H (rs = -0.43; 95%CI = -0.64 to -0.17) and the CP-QOL (rs = -0.32; 95%CI = -0.56 to -0.03). As far as choreoathetosis is concerned, no or only weak relationships were found with the activity, participation and quality of life scales. INTERPRETATION: This cross-sectional study is the first to examine the relationship of dystonia and choreoathetosis in dyskinetic CP with the level of activity, participation and QOL. The results revealed dystonia has a higher impact on activity, participation and quality of life than choreoathetosis. These findings seem to suggest it is necessary to first focus on dystonia reducing intervention strategies and secondly on choreoathetosis.


Assuntos
Atetose/complicações , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/psicologia , Coreia/complicações , Distonia/complicações , Qualidade de Vida , Adolescente , Atetose/fisiopatologia , Atetose/psicologia , Paralisia Cerebral/complicações , Criança , Coreia/fisiopatologia , Coreia/psicologia , Estudos Transversais , Distonia/fisiopatologia , Distonia/psicologia , Exercício Físico/fisiologia , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Participação Social/psicologia , Inquéritos e Questionários , Adulto Jovem
7.
Eur J Paediatr Neurol ; 20(6): 966-970, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27444503

RESUMO

This is a retrospective study of all patients presenting to our paediatric unit with status dystonicus (SD) over a period of five years. Anonymous information was collected and a descriptive analysis is made. There were four episodes of SD in three children between 11 and 15 years of age. All children are known to have severe dyskinetic cerebral palsy and presented with an acute or sub-acute deterioration in their symptoms. Symptoms were triggered by infections in three of the four episodes. Early features included frequent and repetitive generalized muscle spasms, poor swallowing, poor sleep, distress and pain. Patients responded to supportive treatment, rehydration, benzodiazepines, baclofen and l-dopa. Intensive care was not necessary in any of the patients and patients made full recovery within 5-14 days. This report shows the value of early recognition and treatment of SD can be successful in preventing serious complications.


Assuntos
Distonia/diagnóstico , Distonia/terapia , Adolescente , Antidiscinéticos/uso terapêutico , Atetose/etiologia , Atetose/fisiopatologia , Baclofeno/uso terapêutico , Paralisia Cerebral/complicações , Criança , Progressão da Doença , Distonia/etiologia , Feminino , Hidratação , Humanos , Infecções/complicações , Levodopa/uso terapêutico , Masculino , Relaxantes Musculares Centrais/uso terapêutico , Estudos Retrospectivos , Resultado do Tratamento
10.
Dev Med Child Neurol ; 58(2): 138-44, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26173923

RESUMO

AIM: The aim of the study was to map clinical patterns of dystonia and choreoathetosis and to assess the relation between functional classifications and basal ganglia and thalamus lesions in participants with dyskinetic cerebral palsy (CP). METHODS: In this cross-sectional study, 55 participants with dyskinetic CP (mean age 14y 6mo, SD 4y 1mo; range 6-22y) were assessed with the Dyskinesia Impairment Scale and classified with the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). RESULTS: Dystonia and choreoathetosis are simultaneously present. Median levels of dystonia (70.2%) were significantly higher than levels of choreoathetosis (26.7%) and both were significantly higher during activity than at rest (both p<0.01). High correlations were found between dystonia levels and GMFCS level (Spearman's rank correlation coefficient, rS =0.70; 95% confidence interval [CI] 0.53-0.81; p<0.01) and MACS (rS =0.65; 95% CI 0.47-0.81; p<0.01), and fair correlation with CFCS (rs =0.36; 95% CI=0.11-0.57; p<0.05). No significant correlation was found between choreoathetosis levels and motor classifications. Finally, higher choreoathetosis levels were found in participants with pure thalamus and basal ganglia lesions (p=0.03) than mixed lesions, but not for dystonia (p=0.41). INTERPRETATION: Dystonia and choreoathetosis increase during activity. However, dystonia predominates and seems to have a larger impact on functional abilities. Our findings further suggest that choreoathetosis seems to be more linked to pure thalamus and basal ganglia lesions than dystonia.


Assuntos
Atetose/fisiopatologia , Paralisia Cerebral/fisiopatologia , Coreia/fisiopatologia , Distonia/fisiopatologia , Adolescente , Adulto , Atetose/epidemiologia , Atetose/etiologia , Doenças dos Gânglios da Base/patologia , Paralisia Cerebral/complicações , Paralisia Cerebral/epidemiologia , Criança , Coreia/epidemiologia , Coreia/etiologia , Estudos Transversais , Distonia/epidemiologia , Distonia/etiologia , Feminino , Humanos , Masculino , Índice de Gravidade de Doença , Tálamo/patologia , Adulto Jovem
11.
Assist Technol ; 27(1): 52-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26132226

RESUMO

Prior work has highlighted the challenges faced by people with athetosis when trying to acquire on-screen targets using a mouse or trackball. The difficulty of positioning the mouse cursor within a confined area has been identified as a challenging task. We have developed a target acquisition assistance algorithm that features transition assistance via directional gain variation based on target prediction, settling assistance via gain reduction in the vicinity of a predicted target, and expansion of the predicted target as the cursor approaches it. We evaluated the algorithm on improving target acquisition efficiency among seven participants with athetoid cerebral palsy. Our results showed that the algorithm significantly reduced the overall movement time by about 20%. Considering the target acquisition occurs countless times in the course of regular computer use, the accumulative effect of such improvements can be significant for improving the efficiency of computer interaction among people with athetosis.


Assuntos
Algoritmos , Atetose/fisiopatologia , Atetose/reabilitação , Software , Análise e Desempenho de Tarefas , Processamento de Texto , Periféricos de Computador , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
14.
Rev Neurol (Paris) ; 167(8-9): 592-9, 2011.
Artigo em Francês | MEDLINE | ID: mdl-21592539

RESUMO

Among the epileptic syndromes occurring during infancy, which are mostly non-idiopathic and associated with a poor prognosis, benign infantile convulsions are characterized by a favourable evolution. This work aims to analyse and compare the clinical, EEG and outcome characteristics of familial benign infantile convulsions (FBIC) and non-familial benign infantile convulsions (NFBIC). This is a retrospective study, conducted between 1988 and 2008, in 40 infants who presented benign infantile seizures during the two first years of life. All of them had no personal history, normal psychomotor development, normal neurological examinations, no abnormalities on biological and radiological investigations and a favourable outcome. In 14 cases, there was a familial history of familial benign infantile convulsions. However, among the 26 cases with non-familial benign infantile convulsions, 11 children had a familial history of other epileptic syndrome. That may suggest a genetic familial susceptibility. In the two groups, the clinical features and the electroencephalography were similar. The seizures had short duration and occurred most often in clusters. Twenty-nine children had secondarily generalized partial seizures and 11 infants had generalized seizures but a focal onset cannot be excluded. The antiepileptic drugs allowed rapid resolution of seizures. One child necessitated a prolonged antiepileptic treatment. In the other cases, seizures cured in the first year without recurrence of seizures after treatment discontinuation. The evolution was characterised in five children by a later occurrence of dystonia. This subgroup was described as infantile convulsion and choreoathetosis syndrome (ICCA). Benign infantile convulsions are probably an underestimated epileptic syndrome. The diagnosis is relatively easy in the familial forms with dominant autosomal transmission. In contrast, in sporadic forms, the diagnosis can be confirmed only by the evolution. The good prognosis must be tempered by the subsequent onset of dystonia consisted in the ICCA syndrome and justifies a prolonged follow-up.


Assuntos
Epilepsia Neonatal Benigna/epidemiologia , Epilepsia Neonatal Benigna/genética , Anticonvulsivantes/uso terapêutico , Atetose/fisiopatologia , Progressão da Doença , Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Epilepsia Neonatal Benigna/tratamento farmacológico , Epilepsia Generalizada/fisiopatologia , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Recém-Nascido , Masculino , Exame Neurológico , Prognóstico , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Convulsões/epidemiologia , Convulsões/genética , Resultado do Tratamento
15.
Artigo em Inglês | MEDLINE | ID: mdl-21096307

RESUMO

Athetosis is a movement disorder that afflicts numerous persons with cerebral palsy, resulting in significant problems in their control of computer interfaces. As a step toward increasing the efficiency of icon selection by computer users with athetosis, we have implemented three techniques to reduce the time of target acquisition: transition assistance via directional gain variation based on target prediction during initial movement toward the target, settling assistance via gain reduction when in the vicinity of a predicted target, and expansion of the predicted target as the cursor approaches it. The paper describes each method, and presents results from evaluation of each method using a closed-loop model of a human subject with athetosis, trained using recorded data, at three different severity levels.


Assuntos
Algoritmos , Atetose/fisiopatologia , Capacitação de Usuário de Computador/métodos , Processamento de Sinais Assistido por Computador , Interface Usuário-Computador , Paralisia Cerebral/fisiopatologia , Simulação por Computador , Humanos , Modelos Teóricos
16.
Toxicol Sci ; 115(2): 354-68, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20211939

RESUMO

The major objective of this project was to characterize the systemic disposition of the pyrethroid, deltamethrin (DLT), in immature rats, with emphasis on the age dependence of target organ (brain) dosimetry. Postnatal day (PND) 10, 21, and 40 male Sprague-Dawley rats received 0.4, 2, or 10 mg DLT/kg by gavage in glycerol formal. Serial plasma, brain, fat, liver, and skeletal muscle samples were collected for up to 510 h and analyzed for DLT and/or 3-phenoxybenzoic acid (PBA) content by high-performance liquid chromatography. Toxicokinetic data from previous experiments of the same design with young adult (PND 90) rats (Kim, K.-B., Anand, S. S., Kim, H. J., White, C. A., and Bruckner, J. V. [2008]. Toxicokinetics and tissue distribution of deltamethrin in adult Sprague-Dawley rats. Toxicol. Sci. 101, 197-205) were used to compare to immature rat data. Plasma and tissue DLT levels were inversely related to age. Preweanlings and weanlings showed markedly elevated brain concentrations and pronounced salivation, tremors, choreoathetosis, and eventual fatalities. Plasma DLT levels did not reliably reflect brain levels over time. Plasma:brain ratios were time and dose dependent, but apparently not age dependent. Brain levels were better correlated with the magnitude of salivation and tremors than plasma levels. Hepatic intrinsic clearance of DLT progressively increased during maturation, as did the hepatic extraction ratio. Thus, limited capacity to metabolically inactivate DLT appeared primarily responsible for the inordinately high target organ doses and acute neurotoxicity in pups and weanling rats. Hepatic blood flow was not rate limiting in any age group. Limited DLT hydrolysis was manifest in vivo in the pups by relatively low plasma PBA levels. Elevated exposure of the immature brain to a pyrethroid may prove to be of consequence for long-term, as well as short-term neurotoxicity.


Assuntos
Encéfalo/efeitos dos fármacos , Inseticidas/farmacocinética , Nitrilas/farmacocinética , Piretrinas/farmacocinética , Fatores Etários , Animais , Atetose/induzido quimicamente , Atetose/fisiopatologia , Benzoatos/análise , Encéfalo/metabolismo , Coreia/induzido quimicamente , Coreia/fisiopatologia , Relação Dose-Resposta a Droga , Inseticidas/análise , Inseticidas/toxicidade , Longevidade/efeitos dos fármacos , Masculino , Taxa de Depuração Metabólica/fisiologia , Nitrilas/análise , Nitrilas/toxicidade , Piretrinas/análise , Piretrinas/toxicidade , Ratos , Ratos Sprague-Dawley , Salivação/efeitos dos fármacos , Salivação/fisiologia , Fatores de Tempo , Distribuição Tecidual , Tremor/induzido quimicamente , Tremor/fisiopatologia
17.
Eur J Paediatr Neurol ; 13(2): 135-40, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18567514

RESUMO

BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder of neurotransmitter synthesis. It has unique clinical presentations. AIMS: The purpose of this study is to delineate the clinical features and molecular spectrum of AADC deficiency in Taiwanese infants and children. METHODS: We report eight patients with characteristic clinical manifestations of AADC deficiency. Clinical presentations, treatment response, outcome and mutations of DOPA decarboxylase (DDC) gene were analyzed. RESULTS: The clinical manifestations were similar to those previously reported, including symptoms onset before age 1 year with features of severe floppiness, oculogyric crises, athetoid movement, prominent startle response, tongue thrusting, ptosis, paroxysmal diaphoresis, nasal congestion, diarrhea, irritability and sleep disorders. In addition, we observed that all patients (100.0%) had small hands and feet. During the period of follow-up, all of them (100.0%) presented severe floppiness in spite of therapeutic trials with vitamin B6, dopamine agonist, MAO inhibitor and/or anticholinergics. Three different mutations were identified in the DDC gene, including two novel mutations 1303 C>T and 1367ins A and one IVS 6+4 A>T mutation. The IVS 6+4 A>T was a splicing mutation, which inserted an additional 37nt of intron 6 into the DDC mRNA. Thirteen out of 16 alleles (81.3%) carried IVS 6+4 A>T mutation and the IVS 6+4 A>T alleles shared a conserved haplotype. CONCLUSIONS: Patients with AADC deficiency in Taiwan have particular clinical manifestations of small hands and feet, which have rarely been mentioned in the literature. The prevalence of IVS 6+4 A>T splicing mutation is high in our study group and the IVS 6+4 A>T mutation might have a founder effect.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Descarboxilases de Aminoácido-L-Aromático/deficiência , Dopa Descarboxilase/genética , Idade de Início , Erros Inatos do Metabolismo dos Aminoácidos/tratamento farmacológico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Descarboxilases de Aminoácido-L-Aromático/genética , Atetose/etiologia , Atetose/fisiopatologia , Antagonistas Colinérgicos/uso terapêutico , Dopa Descarboxilase/deficiência , Agonistas de Dopamina/uso terapêutico , Feminino , Humanos , Lactente , Masculino , Inibidores da Monoaminoxidase/uso terapêutico , Mutação/genética , Reação em Cadeia da Polimerase , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/fisiopatologia , Taiwan , Vitamina B 6/uso terapêutico
18.
Brain Dev ; 31(6): 452-5, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18801630

RESUMO

We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep-brain stimulation may be considered the therapy of choice for children with intractable hyperkinetic movement disorders.


Assuntos
Estimulação Encefálica Profunda/métodos , Globo Pálido/fisiologia , Hipercinese/terapia , Transtornos dos Movimentos/terapia , Fatores Etários , Atetose/fisiopatologia , Atetose/terapia , Gânglios da Base/anatomia & histologia , Gânglios da Base/fisiopatologia , Criança , Coreia/fisiopatologia , Coreia/terapia , Estimulação Encefálica Profunda/instrumentação , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/fisiopatologia , Eletrodos Implantados , Feminino , Febre/complicações , Globo Pálido/anatomia & histologia , Humanos , Hipercinese/fisiopatologia , Transtornos dos Movimentos/fisiopatologia , Vias Neurais/anatomia & histologia , Vias Neurais/fisiopatologia , Transtorno de Movimento Estereotipado/fisiopatologia , Transtorno de Movimento Estereotipado/terapia , Resultado do Tratamento
19.
Neurology ; 70(5): 374-7, 2008 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-18227418

RESUMO

OBJECTIVE: To describe a more limited and less malignant form of Rasmussen encephalitis (RE). METHODS: Three subjects (all women; 37, 31, and 32 years of age) developed childhood or late onset chronic focal encephalitis, with a relatively nonprogressive form of the disorder. RESULTS: In our patients, clinical features were dominated by partial seizures without marked focal motor deficit and in two with choreo-dystonic movements. The diagnosis of RE was supported by histologic examination and anatomic and functional MRI. CONCLUSIONS: These cases extend the phenotypic presentations of Rasmussen encephalitis and confirm Theodore Rasmussen's suggestion that there may be mild and nonprogressive forms of the disease.


Assuntos
Encefalite/complicações , Encefalite/fisiopatologia , Epilepsia/etiologia , Epilepsia/fisiopatologia , Transtornos dos Movimentos/etiologia , Transtornos dos Movimentos/fisiopatologia , Adulto , Fatores Etários , Idade de Início , Anticonvulsivantes/uso terapêutico , Atetose/tratamento farmacológico , Atetose/etiologia , Atetose/fisiopatologia , Atrofia/diagnóstico , Atrofia/etiologia , Atrofia/fisiopatologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Quimiotaxia de Leucócito/imunologia , Coreia/tratamento farmacológico , Coreia/etiologia , Coreia/fisiopatologia , Doença Crônica , Progressão da Doença , Encefalite/diagnóstico , Epilepsia/diagnóstico , Feminino , Humanos , Imageamento por Ressonância Magnética , Transtornos dos Movimentos/diagnóstico , Recidiva
20.
Artigo em Inglês | MEDLINE | ID: mdl-18002235

RESUMO

People with athetoid cerebral palsy (CP) have difficulty using computers due to unintentional involuntary movements in the upper extremities. A neural network-based system has been developed to cancel the undesired motion, and speed up the movements and accuracy in target acquisition and path tracking tasks while using an isometric joystick (IJ). Nonlinear filtering algorithms were created with neural networks using nonlinear models to help people with athetoid CP to access the computer. This paper presents unfiltered test data that have been collected from patients, and describes the planned filtering approach.


Assuntos
Atetose/fisiopatologia , Atetose/reabilitação , Sistemas Homem-Máquina , Redes Neurais de Computação , Processamento de Sinais Assistido por Computador , Terapia Assistida por Computador/métodos , Interface Usuário-Computador , Periféricos de Computador , Humanos , Análise e Desempenho de Tarefas
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