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1.
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
2.
Dev Neurorehabil ; 24(3): 205-213, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33356718

RESUMO

Objectives: To map the presence, severity, and distribution of spasticity and passive range of motion (pROM) deviations in dyskinetic cerebral palsy (DCP), and to explore their relation with dystonia, choreoathetosis, and functional abilities.Methods: This cross-sectional study included 53 participants with DCP. Spasticity was assessed with the Modified Ashworth Scale, limited- and increased pROM (hypermobility) with a goniometer, dystonia and choreoathetosis with the Dyskinesia Impairment Scale, gross motor and manual abilities with corresponding functional classification systems.Results: Spasticity and limited pROM were correlated with dystonia of the upper limbs (0.41< rs<0.47, <0.001 < p < .002) and lower limbs (0.31< rs<0.41, 0.002 < p < .025), and both functional systems of gross motor (0.32< rs<0.51, <0.001 < p < .018) and fine manual abilities (0.34< rs<0.44, 0.001 < p < .014). Hypermobility is correlated only with choreoathetosis of the lower limbs (0.44, p = .001).Conclusions: Coexisting spasticity and pROM deviations in DCP are functionally limiting and should be addressed accordingly. Hypermobility may lead to an increased luxation risk.


Assuntos
Paralisia Cerebral/diagnóstico , Discinesias/diagnóstico , Distonia/diagnóstico , Amplitude de Movimento Articular , Adulto , Paralisia Cerebral/classificação , Criança , Discinesias/classificação , Distonia/classificação , Feminino , Humanos , Masculino , Espasticidade Muscular/classificação , Espasticidade Muscular/diagnóstico , Extremidade Superior/fisiopatologia
3.
Parkinsonism Relat Disord ; 65: 79-85, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31109729

RESUMO

BACKGROUND: Spasticity can be associated with several hyperkinetic involuntary movements generally referred to as "spasms" despite different phenomenology and clinical characteristics. OBJECTIVE: To better characterize the phenomenology and clinical characteristics of spasticity-associated involuntary movements. METHODS: We performed a cross-sectional study of a consecutive patient sample from the spasticity clinic. Each patient was interviewed by a movement-disorder neurologist who conducted a standardized movement-disorder survey and a focused exam. Patients with involuntary movements were video-recorded and videos were independently rated by a separate blinded movement-disorder neurologist. RESULTS: Sixty-one patients were included (54% female, mean age 49.7 ± 13.9 years). Of the entire cohort, 11.5% had spinal, 44.3% had cerebral, and 44.3% had mixed-origin spasticity. Fifty-eight patients (95%) reported one or more involuntary movements: 75% tonic spasms (63% extensor, 58% isometric, 41% flexor/adductor), 52% spontaneous clonus, 34% myoclonus, 33% focal dystonia, and 28% action tremor. One third of the involuntary movements were painful. Only 53% of patients reported that their involuntary movements were much or very-much improved with their current anti-spasticity management. Patients treated with intrathecal baclofen therapy were more likely to report much or very-much improvement compared to patients receiving oral and/or botulinum therapy (P = 0.0061 and 0.0069 respectively). CONCLUSION: Most spastic patients experience spasticity-associated involuntary movements of variable phenomenology and impact. However, only half of these patients experience significant improvement with the current management strategies. More research is needed to explore better treatment options for spasticity-associated involuntary movements with focus on phenomenology-specific approaches.


Assuntos
Discinesias/classificação , Discinesias/diagnóstico , Espasticidade Muscular/classificação , Espasticidade Muscular/diagnóstico , Adulto , Estudos de Coortes , Estudos Transversais , Discinesias/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/fisiopatologia , Método Simples-Cego , Inquéritos e Questionários
4.
Ann Phys Rehabil Med ; 62(6): 426-430, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30500361

RESUMO

This paper revisits the taxonomy of the neurophysiological consequences of a persistent impairment of motor command execution in the classic environment of sensorimotor restriction and muscle hypo-mobilization in short position. Around each joint, the syndrome involves 2 disorders, muscular and neurologic. The muscular disorder is promoted by muscle hypo-mobilization in short position in the context of paresis, in the hours and days after paresis onset: this genetically mediated, evolving myopathy, is called spastic myopathy. The clinician may suspect it by feeling extensibility loss in a resting muscle, although long after the actual onset of the disease. The neurologic disorder, promoted by sensorimotor restriction in the context of paresis and by the muscle disorder itself, comprises 4 main components, mostly affecting antagonists to desired movements: the first is spastic dystonia, an unwanted, involuntary muscle activation at rest, in the absence of stretch or voluntary effort; spastic dystonia superimposes on spastic myopathy to cause visible, gradually increasing body deformities; the second is spastic cocontraction, an unwanted, involuntary antagonist muscle activation during voluntary effort directed to the agonist, aggravated by antagonist stretch; it is primarily due to misdirection of the supraspinal descending drive and contributes to reducing movement amplitude; and the third is spasticity, one form of hyperreflexia, defined by an enhancement of the velocity-dependent responses to phasic stretch, detected and measured at rest (another form of hyperreflexia is "nociceptive spasms", following flexor reflex afferent stimulation, particularly after spinal cord lesions). The 3 main forms of overactivity, spastic dystonia, spastic cocontraction and spasticity, share the same motor neuron hyperexcitability as a contributing factor, all being predominant in the muscles that are more affected by spastic myopathy. The fourth component of the neurologic disorder affects the agonist: it is stretch-sensitive paresis, which is a decreased access of the central command to the agonist, aggravated by antagonist stretch. Improved understanding of the pathophysiology of deforming spastic paresis should help clinicians select meaningful assessments and refined treatments, including the utmost need to preserve muscle tissue integrity as soon as paresis sets in.


Assuntos
Espasticidade Muscular/classificação , Paresia/classificação , Humanos , Neurônios Motores/fisiologia , Contração Muscular/fisiologia , Espasticidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Paresia/fisiopatologia
5.
Hand Clin ; 34(4): 473-485, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30286962

RESUMO

Spasticity of the hand profoundly limits an individual's independent ability to accomplish self-care and activities of daily living. Surgical procedures should be tailored to patients' needs and functional ability, and even patients with severe cognitive injuries and poor upper extremity function may benefit from surgery to improve appearance and hygiene. Careful preoperative examination and planning are needed, and consideration is given to the potential unintended detrimental effect of a surgical procedure on hand function.


Assuntos
Dedos/cirurgia , Espasticidade Muscular/cirurgia , Polegar/cirurgia , Artrodese , Dedos/anormalidades , Dedos/fisiopatologia , Força da Mão/fisiologia , Humanos , Espasticidade Muscular/classificação , Espasticidade Muscular/fisiopatologia , Músculo Esquelético/cirurgia , Exame Físico , Transferência Tendinosa , Tendões/cirurgia , Polegar/anormalidades , Polegar/fisiopatologia , Articulação do Punho/anormalidades , Articulação do Punho/fisiopatologia , Articulação do Punho/cirurgia
6.
Hand Surg Rehabil ; 36(6): 391-401, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29033227

RESUMO

Spasticity is a complex pathology, both in terms of assessment and treatment. This article focuses on the clinical examination (objective, capacity, performance and function), which is key for choosing a treatment and can be helped by botulinum toxin injections. The treatment involves physical therapy, occupational therapy, medications and surgery. Neurectomy has been used in the upper limb since 1912 and is one of the therapeutic options for spasticity. This treatment is usually reserved for nonfunctional hands. Cadaver studies have helped us better understand nerve anatomy and improve the hyperselective neurectomy (HSN) technique. This article describes the history of neurectomy, how anatomical dissections apply to surgery, the HSN technique in the musculocutaneous nerve, median nerve and ulnar nerve and results of preliminary prospective studies. Spasticity, mobility, performance and function were evaluated a few months after HSN and about 12 months later to assess the permanence of the results in children and adult spastic patients. No matter the nerve or function targeted (elbow extension, wrist extension, or supination), spasticity was reduced with improvements in the functional House score and appeared stable at the last follow-up. HSN seems to be a good, reliable therapeutic option for spasticity, including functional hands.


Assuntos
Denervação/métodos , Espasticidade Muscular/cirurgia , Extremidade Superior/cirurgia , Adolescente , Adulto , Plexo Braquial/anatomia & histologia , Criança , Pré-Escolar , Denervação/tendências , Feminino , Humanos , Masculino , Espasticidade Muscular/classificação , Espasticidade Muscular/fisiopatologia , Satisfação do Paciente , Estudos Prospectivos , Extremidade Superior/fisiopatologia , Adulto Jovem
7.
Spinal Cord ; 55(12): 1046-1050, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28695904

RESUMO

STUDY DESIGN: The 2016 International Spinal Cord Society Sir Ludwig Guttmann Lecture. OBJECTIVES: The aim of this review is to identify different symptoms and signs of neuropathic pain and spasticity after spinal cord injury (SCI) and to present different methods of assessing them. The objective is to discuss how a careful characterization of different symptoms and signs, and a better translation of preclinical findings may improve our understanding of the complex and entangled mechanisms of neuropathic pain and spasticity. METHODS: A MEDLINE search was performed using the following terms: 'pain', 'neuropathic', 'spasticity', 'spasms' and 'spinal cord injury'. RESULTS: This review identified different domains of neuropathic pain and spasticity after SCI and methods to assess them in preclinical and clinical research. Different factors important for pain description include location, onset, pain descriptors and somatosensory function, while muscle tone, spasms, reflexes and clonus are important aspects of spasticity. Similarities and differences between neuropathic pain and spasticity are discussed. CONCLUSIONS: Understanding that neuropathic pain and spasticity are multidimensional consequences of SCI, and a careful examination and characterization of the symptoms and signs, are a prerequisite for understanding the relationship between neuropathic pain and spasticity and the intricate underlying mechanisms.


Assuntos
Espasticidade Muscular/etiologia , Espasticidade Muscular/fisiopatologia , Neuralgia/etiologia , Neuralgia/fisiopatologia , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/fisiopatologia , Animais , Humanos , Espasticidade Muscular/classificação , Espasticidade Muscular/diagnóstico , Neuralgia/classificação , Neuralgia/diagnóstico
8.
J Spinal Cord Med ; 40(4): 380-388, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-27579622

RESUMO

OBJECTIVE: To adapt the Spinal Cord Injury Spasticity Evaluation Tool (SCI-SET) into the Persian language (SCI-SETp) and to examine the reliability and validity of the SCI-SETp in patients with spinal cord injury (SCI). DESIGN: A cross-sectional and prospective cohort validation study. SETTING: University Neurological Physiotherapy Clinic. PARTICIPANTS: Adult patients with SCI. MAIN OUTCOME MEASURES: SCI-SET. RESULTS: There was no missing data. No floor or ceiling effect was observed. Cronbach's α coefficient was 0.862. Factor analysis suggested 1 factor structure (Eigenvalue = 8.49) explained 24.27% of the total variance. The ICCagreement for test-retest reliability was 0.84. The standard error of measurement and the smallest detectable change was 0.30 and 0.82, respectively. The divergent relationships demonstrated the SCI-SETp uniqueness construct. CONCLUSION: The results support the reliability and validity of the SCI-SETp for assessing the impact of spasticity on daily life of patients with SCI.


Assuntos
Comparação Transcultural , Espasticidade Muscular/patologia , Traumatismos da Medula Espinal/patologia , Índices de Gravidade do Trauma , Adulto , Feminino , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/classificação , Espasticidade Muscular/etiologia , Exame Neurológico/normas , Traumatismos da Medula Espinal/classificação , Traumatismos da Medula Espinal/complicações
9.
J Neurol ; 264(1): 112-120, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27787630

RESUMO

Botulinum toxin (BT) therapy is an established treatment of spasticity due to stroke. For multiple sclerosis (MS) spasticity this is not the case. IAB-Interdisciplinary Working Group for Movement Disorders formed a task force to explore the use of BT therapy for treatment of MS spasticity. A formalised PubMed literature search produced 55 publications (3 randomised controlled trials, 3 interventional studies, 11 observational studies, 2 case studies, 35 reviews, 1 guideline) all unanimously favouring the use of BT therapy for MS spasticity. There is no reason to believe that BT should be less effective and safe in MS spasticity than it is in stroke spasticity. Recommendations include an update of the current prevalence of MS spasticity and its clinical features according to classifications used in movement disorders. Immunological data on MS patients already treated should be analysed with respect to frequencies of MS relapses and BT antibody formation. Registration authorities should expand registration of BT therapy for spasticity regardless of its aetiology. MS specialists should consider BT therapy for symptomatic treatment of spasticity.


Assuntos
Inibidores da Liberação da Acetilcolina/uso terapêutico , Toxinas Botulínicas/uso terapêutico , Esclerose Múltipla/complicações , Espasticidade Muscular/tratamento farmacológico , Espasticidade Muscular/etiologia , Humanos , Esclerose Múltipla/classificação , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla/fisiopatologia , Espasticidade Muscular/classificação , Espasticidade Muscular/fisiopatologia
10.
Ortop Traumatol Rehabil ; 17(4): 423-30, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26468180

RESUMO

Muscle tone often exists concomitantly with pain symptoms in different neurological and orthopaedic disease entities. In order to overcome that painful symptom, it is crucial to integrate painkillers with adjunctive therapy using muscle relaxants which decrease the muscle tone. Muscle relaxants available in pharmaceutical trade suppress motor outflow through different mechanisms of action, these include drugs such as: Tizanidine, botulinum toxin, Baclofen, Tolperisone, Methocarbamol. Combining muscle relaxants with analgesics significantly improves the effectiveness of the treatment and allows to reduce drugs doses.


Assuntos
Relaxantes Musculares Centrais/uso terapêutico , Espasticidade Muscular/tratamento farmacológico , Doenças Musculoesqueléticas/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/tratamento farmacológico , Comorbidade , Medicina Baseada em Evidências/métodos , Humanos , Espasticidade Muscular/classificação , Espasticidade Muscular/epidemiologia , Doenças Musculoesqueléticas/classificação , Doenças Musculoesqueléticas/epidemiologia , Doenças do Sistema Nervoso Periférico/classificação , Doenças do Sistema Nervoso Periférico/epidemiologia , Resultado do Tratamento
11.
Parkinsonism Relat Disord ; 21(10): 1243-6, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26231471

RESUMO

INTRODUCTION: The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1. METHODS: We prospectively evaluated the pyramidal signs and spasticity in SCA1 patients, and correlated the data with genetic and clinical features. RESULTS: In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1 patients with spasticity were significantly younger. CONCLUSION: SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group.


Assuntos
Deficiência Intelectual/classificação , Espasticidade Muscular/etiologia , Atrofia Óptica/classificação , Paraplegia Espástica Hereditária/classificação , Ataxias Espinocerebelares/classificação , Ataxias Espinocerebelares/complicações , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/classificação , Espasticidade Muscular/epidemiologia , Fenótipo
12.
Health Technol Assess ; 19(12): vii-viii, xxv-xxxi, 1-187, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25676540

RESUMO

BACKGROUND: The Cannabinoid Use in Progressive Inflammatory brain Disease (CUPID) trial aimed to determine whether or not oral Δ(9)-tetrahydrocannabinol (Δ(9)-THC) slowed the course of progressive multiple sclerosis (MS); evaluate safety of cannabinoid administration; and, improve methods for testing treatments in progressive MS. OBJECTIVES: There were three objectives in the CUPID study: (1) to evaluate whether or not Δ(9)-THC could slow the course of progressive MS; (2) to assess the long-term safety of Δ(9)-THC; and (3) to explore newer ways of conducting clinical trials in progressive MS. DESIGN: The CUPID trial was a randomised, double-blind, placebo-controlled, parallel-group, multicentre trial. Patients were randomised in a 2 : 1 ratio to Δ(9)-THC or placebo. Randomisation was balanced according to Expanded Disability Status Scale (EDSS) score, study site and disease type. Analyses were by intention to treat, following a pre-specified statistical analysis plan. A cranial magnetic resonance imaging (MRI) substudy, Rasch measurement theory (RMT) analyses and an economic evaluation were undertaken. SETTING: Twenty-seven UK sites. PARTICIPANTS: Adults aged 18-65 years with primary or secondary progressive MS, 1-year evidence of disease progression and baseline EDSS 4.0-6.5. INTERVENTIONS: Oral Δ(9)-THC (maximum 28 mg/day) or matching placebo. ASSESSMENT VISITS: Three and 6 months, and then 6-monthly up to 36 or 42 months. MAIN OUTCOME MEASURES: Primary outcomes were time to EDSS progression, and change in Multiple Sclerosis Impact Scale-29 version 2 (MSIS-29v2) 20-point physical subscale (MSIS-29phys) score. Various secondary patient- and clinician-reported outcomes and MRI outcomes were assessed. RMT analyses examined performance of MS-specific rating scales as measurement instruments and tested for a symptomatic or disease-modifying treatment effect. Economic evaluation estimated mean incremental costs and quality-adjusted life-years (QALYs). RESULTS: Effectiveness - recruitment targets were achieved. Of the 498 randomised patients (332 to active and 166 to placebo), 493 (329 active and 164 placebo) were analysed. PRIMARY OUTCOMES: no significant treatment effect; hazard ratio EDSS score progression (active : placebo) 0.92 [95% confidence interval (CI) 0.68 to 1.23]; and estimated between-group difference in MSIS-29phys score (active-placebo) -0.9 points (95% CI -2.0 to 0.2 points). Secondary clinical and MRI outcomes: no significant treatment effects. Safety - at least one serious adverse event: 35% and 28% of active and placebo patients, respectively. RMT analyses - scale evaluation: MSIS-29 version 2, MS Walking Scale-12 version 2 and MS Spasticity Scale-88 were robust measurement instruments. There was no clear symptomatic or disease-modifying treatment effect. Economic evaluation - estimated mean incremental cost to NHS over usual care, over 3 years £27,443.20 per patient. No between-group difference in QALYs. CONCLUSIONS: The CUPID trial failed to demonstrate a significant treatment effect in primary or secondary outcomes. There were no major safety concerns, but unwanted side effects seemed to affect compliance. Participants were more disabled than in previous studies and deteriorated less than expected, possibly reducing our ability to detect treatment effects. RMT analyses supported performance of MS-specific rating scales as measures, enabled group- and individual person-level examination of treatment effects, but did not influence study inferences. The intervention had significant additional costs with no improvement in health outcomes; therefore, it was dominated by usual care and not cost-effective. Future work should focus on determining further factors to predict clinical deterioration, to inform the development of new studies, and modifying treatments in order to minimise side effects and improve study compliance. The absence of disease-modifying treatments in progressive MS warrants further studies of the cannabinoid pathway in potential neuroprotection. TRIAL REGISTRATION: Current Controlled Trials ISRCTN62942668. FUNDING: The National Institute for Health Research Health Technology Assessment programme, the Medical Research Council Efficacy and Mechanism Evaluation programme, Multiple Sclerosis Society and Multiple Sclerosis Trust. The report will be published in full in Health Technology Assessment; Vol. 19, No. 12. See the NIHR Journals Library website for further project information.


Assuntos
Análise Custo-Benefício , Dronabinol/uso terapêutico , Esclerose Múltipla Crônica Progressiva/tratamento farmacológico , Anos de Vida Ajustados por Qualidade de Vida , Administração Oral , Adulto , Progressão da Doença , Método Duplo-Cego , Dronabinol/administração & dosagem , Dronabinol/efeitos adversos , Dronabinol/economia , Feminino , Financiamento Governamental , Financiamento Pessoal , Humanos , Estimativa de Kaplan-Meier , Modelos Logísticos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Crônica Progressiva/economia , Esclerose Múltipla Crônica Progressiva/psicologia , Espasticidade Muscular/classificação , Neuroimagem/métodos , Avaliação de Resultados em Cuidados de Saúde/métodos , Avaliação de Resultados em Cuidados de Saúde/estatística & dados numéricos , Modelos de Riscos Proporcionais , Índice de Gravidade de Doença , Fatores de Tempo , Reino Unido
13.
JAMA Neurol ; 71(7): 901-4, 2014 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-24797679

RESUMO

IMPORTANCE: Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis partially responsive to betaine therapy. OBSERVATIONS: Both pairs of siblings presented with a similar combination of progressive spastic paraparesis and polyneuropathy, variably associated with behavioral changes, cognitive impairment, psychosis, seizures, and leukoencephalopathy, beginning between the ages of 29 and 50 years. By the time of diagnosis a decade later, 3 patients were ambulatory and 1 was bedridden. Investigations have revealed severe hyperhomocysteinemia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutation in the other family. Treatment with betaine produced a rapid decline of homocysteine by 50% to 70% in all 4 patients and, over 9 to 15 years, improved the conditions of the 3 ambulatory patients. CONCLUSIONS AND RELEVANCE: Although severe MTHFR deficiency is a rare cause of complicated spastic paraparesis in adults, it should be considered in select patients because of the potential therapeutic benefit of betaine supplementation.


Assuntos
Betaína/farmacologia , Homocistinúria/genética , Lipotrópicos/farmacologia , Metilenotetra-Hidrofolato Redutase (NADPH2)/deficiência , Espasticidade Muscular/genética , Índice de Gravidade de Doença , Paraplegia Espástica Hereditária/etiologia , Paraplegia Espástica Hereditária/genética , Adulto , Idade de Início , Idoso , Feminino , Homocistinúria/classificação , Humanos , Imageamento por Ressonância Magnética , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/classificação , Metilenotetra-Hidrofolato Redutase (NADPH2)/efeitos dos fármacos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Pessoa de Meia-Idade , Espasticidade Muscular/classificação , Estudos Prospectivos , Transtornos Psicóticos/classificação , Transtornos Psicóticos/genética , Paraplegia Espástica Hereditária/tratamento farmacológico , Resultado do Tratamento
14.
Dev Med Child Neurol ; 56(10): 951-9, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24773274

RESUMO

AIM: The aim of this study was to determine the developmental trajectories of expressive (speech) and receptive (spoken and written language) communication by type of motor disorder and intellectual disability in individuals with cerebral palsy (CP). METHOD: The development of 418 participants (261 males, 157 females; mean age 9y 6mo [SD 6y 2mo], range 1-24y; Gross Motor Function Classification System (GMFCS) level I [n=206], II [n=57], III [n=59], IV [n=54], V [n=42]) was followed for 2 to 4 years in a longitudinal study. Communication performance was measured using the Vineland Adaptive Behavior Scales. The type of motor disorder was differentiated by type of CP as unilateral spastic (USCP, n=161), bilateral spastic (BSCP, n=202), and non-spastic (NSCP, n=55), while intellectual disability was determined by IQ or school type (regular or special). A multilevel analysis was then used to model the developmental trajectories. RESULTS: The most favourable development of expressive communication was seen in USCP (vs BSCP ß [SE]-2.74 [1.06], NSCP ß [SE]-2.67 [1.44]). The difference between the development trajectory levels of children with and without intellectual disability was smaller for children with USCP than for those with BSCP and NSCP. For receptive communication, the most favourable development was found for all children with USCP and for BSCP or NSCP without intellectual disability (vs intellectual disability ß [SE]-4.00 [1.16]). Development of written language was most favourable for children without intellectual disability (vs intellectual disability ß [SE]-23.11 [2.85]). INTERPRETATION: The development of expressive communication was found to be most closely related to type of motor disorder, whereas the development of receptive communication was found to be most closely related to intellectual disability.


Assuntos
Paralisia Cerebral/fisiopatologia , Comunicação , Desenvolvimento Humano/fisiologia , Deficiência Intelectual/fisiopatologia , Adolescente , Adulto , Paralisia Cerebral/classificação , Paralisia Cerebral/epidemiologia , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Lactente , Deficiência Intelectual/epidemiologia , Desenvolvimento da Linguagem , Masculino , Espasticidade Muscular/classificação , Espasticidade Muscular/epidemiologia , Estudos Prospectivos , Índice de Gravidade de Doença , Fala/fisiologia , Adulto Jovem
17.
J Rehabil Med ; 43(6): 556-7, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21491075

RESUMO

BACKGROUND AND OBJECTIVE: The increase in resistance to passive muscle stretch in a paretic limb due to an upper motor neurone lesion is often referred to as muscle spasticity. However, this terminology is inaccurate and does not take into account the complex pathogenesis of the condition or describe the factors that contribute to the clinically observed changes in muscle tone. In this report we propose an alternative terminology and explain the reasons for doing so.


Assuntos
Doença dos Neurônios Motores/classificação , Hipertonia Muscular/classificação , Espasticidade Muscular/classificação , Humanos , Classificação Internacional de Doenças , Doença dos Neurônios Motores/diagnóstico , Hipertonia Muscular/diagnóstico , Espasticidade Muscular/diagnóstico , Terminologia como Assunto
18.
J Oral Pathol Med ; 39(10): 770-4, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20738750

RESUMO

BACKGROUND: Previous studies reported alterations in salivary flow rate and biochemical parameters of saliva in cerebral palsy (CP) individuals; however, none of these considered the type of neuromotor abnormality among CP individuals, thus it remains unclear whether the different anatomical and extended regions of the brain lesions responsible for the neurological damage in CP might include disruption of the regulatory mechanism of saliva secretion as part of the encephalopathy. The aim of this study was to evaluate salivary flow rate, pH and buffer capacity in saliva of individuals with CP, aged 3-16 years, with spastic neuromotor abnormality type and clinical patterns of involvement. METHODS: Sixty-seven individuals with CP spasticity movement disorder, were divided in two groups according to age (3-8- and 9-16-years-old) and compared with 35 sibling volunteers with no neurological damage, divided in two groups according to age (3-8- and 9-16-years-old). Whole saliva was collected under slight suction and pH and buffer capacity were determined using a digital pH meter. Buffer capacity was measured by titration using 0.01N HCL, and flow rate was calculated in ml/min. RESULTS: In both age groups studied, whole saliva flow rate, pH and buffer capacity were significantly lower in the spastic CP group (P<0.05). The clinical patterns of involvement did not influence the studied parameters. CONCLUSION: These findings show that individuals with spastic cerebral palsy present lower salivary flow rate, pH and buffer capacity that can increase the risk of oral disease in this population.


Assuntos
Paralisia Cerebral/metabolismo , Saliva/metabolismo , Salivação/fisiologia , Adolescente , Estudos de Casos e Controles , Paralisia Cerebral/classificação , Criança , Pré-Escolar , Feminino , Humanos , Concentração de Íons de Hidrogênio , Masculino , Espasticidade Muscular/classificação , Valores de Referência , Índice de Gravidade de Doença
19.
Arch Phys Med Rehabil ; 91(3): 421-8, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20298834

RESUMO

OBJECTIVE: To measure the Tardieu Scale's reliability in children with cerebral palsy (CP) when used by raters with and without experience in using the scale, before and after training. DESIGN: Single-center, intrarater and interrater reliability study. SETTING: Institutional ambulatory care. PARTICIPANTS: Referred children with CP in the pretraining phase (n=5), during training (n=3), and in the posttraining phase (n=15). INTERVENTIONS: The Tardieu Scale involves performing passive muscle stretch at 2 velocities, slow and fast. The rater derives 2 parameters; the Spasticity Angle X is the difference between the angles of arrest at slow speed and of catch-and-release or clonus at fast speed; the Spasticity Grade Y is an ordinal variable that grades the intensity (gain) of the muscle reaction to fast stretch. In phase 1, experienced raters without formalized training in the scale graded elbow, knee, and ankle plantar flexors bilaterally, without and with a goniometer. In phase 2, after training, the experienced and nonexperienced raters graded the same muscles unilaterally. MAIN OUTCOME MEASURES: Intrarater and interrater reliability of the Tardieu Scale. RESULTS: After training, nonexperienced raters had mean +/- SD intrarater and interrater agreement rates across all joints and parameters of 80%+/-14% and 74%+/-16%, respectively. For experienced raters, intrarater and interrater agreement rates before training were 77%+/-13% and 66%+/-15%, respectively, versus 90%+/-8% and 81%+/-13%, respectively, after training (P<.001 for both). Specific angle measurements at the knee were less reliable for the angles of catch measured at fast speed. Across all joints, agreement rates were similar using visual or goniometric measurements. CONCLUSIONS: Both parameters of the Tardieu Scale have excellent intrarater and interrater reliability when assessed at the elbow and ankle joints of children with CP, with no difference noted between visual and goniometric measurements. Angle measurements were less reliable at the knee joints. Training was associated with a highly significant improvement in reliability.


Assuntos
Paralisia Cerebral/complicações , Paralisia Cerebral/reabilitação , Técnicas de Exercício e de Movimento/instrumentação , Espasticidade Muscular/classificação , Adolescente , Artrometria Articular , Criança , Técnicas de Exercício e de Movimento/educação , Feminino , Humanos , Joelho/fisiopatologia , Masculino , Espasticidade Muscular/etiologia , Espasticidade Muscular/fisiopatologia , Músculo Esquelético/fisiopatologia , Postura , Amplitude de Movimento Articular , Reflexo de Estiramento , Reprodutibilidade dos Testes , Ensino
20.
Dev Med Child Neurol ; 51(11): 872-7, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-19416339

RESUMO

AIM: Traditionally, cerebral palsy (CP) had been classified according to the distribution and quality of motor impairment. A standardized functional classification of gross motor skills has recently been validated - the Gross Motor Function Classification System (GMFCS). The relationship between the neurological subtype of CP and GMFCS level remains undefined in CP. METHOD: The Quebec Cerebral Palsy Registry (Registre de la paralysie cérébrale au Québec [REPACQ]) over a 4-year birth interval (1999-2002 inclusive) identified 301 children with CP. Information on both CP subtype and GMFCS level was available for 243 children (138 males, 105 females) with final data extraction at a mean age of 44 months (SD 14mo, range 24-79mo). Proportions of children with a particular CP subtype at GMFCS levels I to III versus levels IV to V were determined and compared. RESULTS: CP subtype versus GMFCS levels I to III or IV to V was distributed proportionally as follows: spastic diplegic, 51/52 (98%) versus 1/52 (2%); spastic quadriparetic, 20/85 (24%) versus 65/85 (76%); spastic hemiplegic, 76/77 (99%) versus 1/77 (1%); dyskinetic, 4/16 (25%) versus 12/16 (75%); other (triplegic or ataxic-hypotonic), 10/13 (77%) versus 3/13 (23%). These distributions (proportions) all yielded significant (p<0.001) Pearson chi(2) values. INTERPRETATION: Neurological subtype is a powerful predictor of functional status related to ambulation. This has implications for counseling families.


Assuntos
Paralisia Cerebral/classificação , Paralisia Cerebral/fisiopatologia , Transtornos Neurológicos da Marcha/epidemiologia , Atividade Motora/fisiologia , Paralisia Cerebral/epidemiologia , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino , Espasticidade Muscular/classificação , Espasticidade Muscular/epidemiologia , Espasticidade Muscular/fisiopatologia , Paralisia/classificação , Paralisia/epidemiologia , Paralisia/fisiopatologia , Prevalência , Quebeque/epidemiologia , Sistema de Registros , Índice de Gravidade de Doença
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