RESUMO
It has generally been accepted that vitamin E refers to a group of tocochromanols, α-, ß-, γ-, and δ-tocopherols and the corresponding four tocotrienols. Recently, Azzi and colleagues proposed to restrict the term vitamin E only to RRR-α-tocopherol, not to other tocopherols and tocotrienols (Azzi A et al. Free Radic Biol Med. 2023; 207:178-180. doi: 10.1016/j.freeradbiomed.2023.06.029). The aim of this paper is to express our opinion on the nomenclature of vitamin E based on available scientific data. In our opinion, it would be inappropriate to exclude all the tocochromanols other than RRR-α-tocopherol from the vitamin E group at this stage when the molecular mechanisms showing how vitamin E deficiency causes diseases such as ataxia and how vitamin E prevents/reverses such diseases are not elucidated. Understanding of whole functions of tocochromanols including underlying mechanisms and dynamics is essential before revision of currently accepted definition of vitamin E. The potential roles of γ-tocopherol and tocotrienols are discussed despite whether they are vitamin function should be clarified in the future studies.
Assuntos
Terminologia como Assunto , Deficiência de Vitamina E , Vitamina E , alfa-Tocoferol , Vitamina E/química , Vitamina E/classificação , Humanos , alfa-Tocoferol/química , Ataxia/classificação , Tocotrienóis/classificação , Tocotrienóis/química , Antioxidantes/química , AnimaisRESUMO
The International Paralympic Committee (IPC) mandates Paralympic Sports to develop evidence-based classification systems that allocate athletes into 'classes' according to the impact of their impairment on sport-specific performance. In wheelchair-basketball, a panel of classifiers assesses athlete's performance through observation. One key barrier to evidence-based classification is the absence of defined eligible impairments, including clear guidelines on how to assess them and their impact on wheelchair basketball performance. This study aims to reach expert consensus on issues specific to wheelchair basketball that can benefit from evidence-based classification. It offers recommendations for refining the classification manual, thus improving adherence to the IPC classification code. A three-round Delphi study was conducted with 29 experts in wheelchair basketball. The experts agreed with the new definition for the aim of wheelchair basketball classification, which is in line with the IPC code. Cases identified as having the highest risk for disagreement between classifiers included classifying players with upper limb deficiency or with impaired coordination. The panel failed to agree on changing the classification procedures and on defining the eligible impairment list. This study identifies issues specific to wheelchair basketball classification to be addressed in future research. Additional discussions need to take place to promote further resolution.
Assuntos
Comitês Consultivos , Desempenho Atlético/classificação , Basquetebol/classificação , Consenso , Técnica Delphi , Paratletas/classificação , Esportes para Pessoas com Deficiência/classificação , Comitês Consultivos/organização & administração , Ataxia/classificação , Feminino , Humanos , Internacionalidade , Masculino , Desempenho Físico Funcional , Extremidade Superior , Cadeiras de RodasRESUMO
This study aims were twofold: (1) to evaluate the construct validity of the Repetitive Movement Test (RMT) a novel test developed for Wheelchair Rugby classification which evaluates arm coordination impairment at five joints - shoulder, elbow, forearm, wrist and fingers - and (2), pending sufficiently positive results, propose objective minimum impairment criteria (MIC). Forty-two WR athletes with an eligible coordination impairment, and 20 volunteers without impairment completed the RMT and two clinically established coordination tests: the finger-nose test (FNT) and the spiral test (ST). Coordination deduction (CD), an ordinal observational coordination scale, currently used in WR classification, was obtained. Spearman-rank correlation coefficients (SCC) between RMT and ST (0.40 to 0.67) and between RMT and CD (0.31 to 0.53) generally supported RMT construct validity, SCC between RMT and FNT were lower (0.12-0.31). When the scores on ST, FNT and RMT from the sample of WR players were compared with the scores from volunteers without impairment, 93.5% to 100% of WR players had scores > 2SD below the mean of volunteers without impairment on the same test. In conclusion, RMT at the elbow, forearm, wrist and fingers have sufficient construct validity for use in WR. MIC were recommended with ST and RMT.
Assuntos
Braço/fisiopatologia , Ataxia/fisiopatologia , Futebol Americano/fisiologia , Articulações/fisiopatologia , Esportes para Pessoas com Deficiência/fisiologia , Adolescente , Adulto , Ataxia/classificação , Desempenho Atlético , Estudos de Casos e Controles , Estudos Transversais , Articulação do Cotovelo/fisiopatologia , Feminino , Articulações dos Dedos/fisiopatologia , Futebol Americano/classificação , Antebraço , Humanos , Masculino , Pessoa de Meia-Idade , Paratletas , Desempenho Psicomotor/fisiologia , Amplitude de Movimento Articular/fisiologia , Reprodutibilidade dos Testes , Articulação do Ombro/fisiopatologia , Esportes para Pessoas com Deficiência/classificação , Estatísticas não Paramétricas , Articulação do Punho/fisiologia , Adulto JovemRESUMO
Impaired coordination is a characteristic feature in cerebral palsy (CP) football players. This study aimed to determine the relationships of three coordination tests with match physical load during competition of para-footballers from different sport classes. Records from 259 para-footballers from 25 national teams were obtained in four international competitions held in 2018 and 2019. The three coordination tests were conducted prior to competition (i.e., rapid heel-toe, side-stepping, and split jumps), and physical match load was recorded by GPS devices during the real game: i.e., maximum/mean, total distance, distance covered at different speed zones, number of accelerations/decelerations at different intensities, and player load. FT1 and FT3 players have the lowest and highest performance in all the coordination tests, respectively, but inconclusive between-groups differences were obtained (p=0.022â0.238). Split jumps and side-stepping tests are associated with the performance of moderate and high accelerations during competition (r = -0.20â0.71; p<0.01). Significant correlations (r = 0.36â0.71; p<0.01) were obtained between all the coordination measures. Coordination tests better discriminate those with more severe impairments and some evidence for the validity of the new CP football sport classes is provided. Further research is necessary to identify the portion of the variance in sports performance that coordination explains.
Assuntos
Ataxia/fisiopatologia , Desempenho Atlético/fisiologia , Paralisia Cerebral/fisiopatologia , Paratletas , Futebol/fisiologia , Esportes para Pessoas com Deficiência/fisiologia , Aceleração , Adulto , Análise de Variância , Ataxia/classificação , Desempenho Atlético/classificação , Paralisia Cerebral/classificação , Estudos Transversais , Desaceleração , Sistemas de Informação Geográfica , Humanos , Internacionalidade , Extremidade Inferior/fisiopatologia , Movimento/fisiologia , Futebol/classificação , Futebol/estatística & dados numéricos , Esportes para Pessoas com Deficiência/classificação , Adulto JovemRESUMO
This study examined the relationship between proximal arm strength and mobility performance in wheelchair rugby (WR) athletes and examined whether a valid structure for classifying proximal arm strength impairment could be determined. Fifty-seven trained WR athletes with strength impaired arms and no trunk function performed six upper body isometric strength tests and three 10 m sprints in their rugby wheelchair. All strength measures correlated with 2 m and 10 m sprint times (r ≥ -0.43; p ≤ 0.0005) and were entered into k-means cluster analyses with 4-clusters (to mirror the current International Wheelchair Rugby Federation [IWRF] system) and 3-clusters. The 3-cluster structure provided a more valid structure than both the 4-cluster and existing IWRF system, as evidenced by clearer differences in strength (Effect sizes [ES] ≥ 1.0) and performance (ES ≥ 1.1) between adjacent clusters and stronger mean silhouette coefficient (0.64). Subsequently, the 3-cluster structure for classifying proximal arm strength impairment would result in less overlap between athletes from adjacent classes and reduce the likelihood of athletes being disadvantaged due to their impairment. This study demonstrated that the current battery of isometric strength tests and cluster analyses could facilitate the evidence-based development of classifying proximal arm strength impairment in WR.
Assuntos
Braço/fisiologia , Futebol Americano/fisiologia , Movimento/fisiologia , Força Muscular/fisiologia , Paratletas , Estudo de Prova de Conceito , Adulto , Ataxia/classificação , Ataxia/fisiopatologia , Desempenho Atlético/fisiologia , Análise por Conglomerados , Feminino , Futebol Americano/classificação , Humanos , Contração Isométrica/fisiologia , Masculino , Paratletas/classificação , Valores de Referência , Traumatismos da Medula Espinal/complicações , Esportes para Pessoas com Deficiência/fisiologia , Cadeiras de RodasRESUMO
A fundamental aspect of classification systems in Paralympic sport is having valid and reliable measures of impairment. However, minimal consensus exists for assessing impaired strength, coordination and range of motion. This review aimed to systematically identify measures of upper body strength, coordination and range of motion impairments that meet the requirements for use in evidence-based classification systems in wheelchair sports. Three electronic databases were searched from 2003 until 31 August 2019 for studies that assessed upper body function of participants and used a measurement tool that assessed strength, coordination or range of motion. The body of evidence for each identified measure was appraised using the Grading of Recommendations Assessment, Development and Evaluation framework. Twenty-three studies were included: ten measured strength and coordination, and six measured range of motion. There was "moderate" confidence in using isometric strength for assessing strength impairment. Tapping tasks for the assessment of coordination impairment received a "low" confidence rating. All other identified measures of coordination and range of motion impairment received a "very low" confidence rating. Several potential measures were identified for assessing upper body strength, coordination and range of motion impairments. Further research is warranted to investigate their use for classification in Paralympic wheelchair sports.
Assuntos
Desempenho Atlético/classificação , Avaliação da Deficiência , Paratletas/classificação , Esportes para Pessoas com Deficiência/classificação , Ataxia/classificação , Ataxia/diagnóstico , Viés , Força da Mão , Humanos , Contração Isométrica , Força Muscular , Equilíbrio Postural , Desempenho Psicomotor , Amplitude de Movimento Articular , Reprodutibilidade dos Testes , Natação/fisiologia , Cadeiras de RodasRESUMO
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 JovemRESUMO
Paroxysmal movement disorders (PMDs) are rare neurological diseases typically manifesting with intermittent attacks of abnormal involuntary movements. Two main categories of PMDs are recognized based on the phenomenology: Paroxysmal dyskinesias (PxDs) are characterized by transient episodes hyperkinetic movement disorders, while attacks of cerebellar dysfunction are the hallmark of episodic ataxias (EAs). From an etiological point of view, both primary (genetic) and secondary (acquired) causes of PMDs are known. Recognition and diagnosis of PMDs is based on personal and familial medical history, physical examination, detailed reconstruction of ictal phenomenology, neuroimaging, and genetic analysis. Neurophysiological or laboratory tests are reserved for selected cases. Genetic knowledge of PMDs has been largely incremented by the advent of next generation sequencing (NGS) methodologies. The wide number of genes involved in the pathogenesis of PMDs reflects a high complexity of molecular bases of neurotransmission in cerebellar and basal ganglia circuits. In consideration of the broad genetic and phenotypic heterogeneity, a NGS approach by targeted panel for movement disorders, clinical or whole exome sequencing should be preferred, whenever possible, to a single gene approach, in order to increase diagnostic rate. This review is focused on clinical and genetic features of PMDs with the aim to (1) help clinicians to recognize, diagnose and treat patients with PMDs as well as to (2) provide an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.
Assuntos
Ataxia/genética , Coreia/genética , Fenótipo , Ataxia/classificação , Ataxia/diagnóstico , Coreia/classificação , Coreia/diagnóstico , Testes Genéticos/métodos , Humanos , MutaçãoRESUMO
The increasing recognition of the phenotypic and genotypic heterogeneity that exists amongst the paroxysmal movement disorders (PMDs) is challenging the way these disorders have been traditionally classified. The present review aims to summarize how recent genetic advances have influenced our understanding of the nosology, pathophysiology and treatment strategies of paroxysmal movement disorders. We propose classifying PMDs using a system that would combine both phenotype and genotype information to allow these disorders to be better categorized and studied. In the era of next generation sequencing, the use of a standardized algorithm and employment of selective genetic screening will lead to greater diagnostic certainty and targeted therapeutics for the patients.
Assuntos
Ataxia/classificação , Transtornos dos Movimentos/classificação , Ataxia/genética , Ataxia/metabolismo , Ataxia/fisiopatologia , Humanos , Transtornos dos Movimentos/genética , Transtornos dos Movimentos/metabolismo , Transtornos dos Movimentos/fisiopatologiaRESUMO
PURPOSE: To examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes. METHODS: One hundred and seventy patients with ataxia of unknown etiology referred from clinics throughout the United States and Canada were studied using a targeted exome approach. Patients ranged in age from 2 to 88 years. Analysis was focused on 441 curated genes associated with ataxia and ataxia-like conditions. RESULTS: Pathogenic and suspected diagnostic variants were identified in 88 of the 170 patients, providing a positive molecular diagnostic rate of 52%. Forty-six different genes were implicated, with the six most commonly mutated genes being SPG7, SYNE1, ADCK3, CACNA1A, ATP1A3, and SPTBN2, which accounted for >40% of the positive cases. In many cases a diagnosis was provided for conditions that were not suspected and resulted in the broadening of the clinical spectrum of several conditions. CONCLUSION: Exome sequencing with targeted analysis provides a high-yield approach for the genetic diagnosis of ataxia-related conditions. This is the largest targeted exome study performed to date in patients with ataxia and ataxia-like conditions and represents patients with a wide range of ataxia phenotypes typically encountered in neurology and genetics clinics.
Assuntos
Ataxia/genética , Sequenciamento do Exoma , Exoma/genética , Predisposição Genética para Doença , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Ataxia/classificação , Ataxia/diagnóstico , Ataxia/patologia , Canadá , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Fenótipo , Análise de Sequência de DNA , Adulto JovemRESUMO
OBJECTIVE: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. METHODS: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty patients were enrolled in the preliminary pilot testing and 61 patients were evaluated for construct validity, internal consistency, intra- and inter-rater reliability and external consistency. RESULTS: This study showed good validity of the construct and high internal consistency for the full scale, except for the oculomotor domain (Cronbach's alpha = 0.316, intraclass correlation coefficients intra- = 82.4% and inter- = 79.2%). A high correlation with the Scale for the Assessment and Rating of Ataxia was observed. We found good intra-rater agreement and relative inter-rater disagreement, except in the posture and gait domain. CONCLUSION: The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.
Assuntos
Ataxia/diagnóstico , Inquéritos e Questionários/normas , Adolescente , Adulto , Ataxia/classificação , Brasil , Comparação Transcultural , Feminino , Humanos , Idioma , Masculino , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Traduções , Adulto JovemRESUMO
BACKGROUND: During childhood, many conditions may impact coordination. Examples are physiological age-related development and pathological conditions, such as early onset ataxia and developmental coordination disorder. These conditions are generally diagnosed by clinical specialists. However, in absence of a gold phenotypic standard, objective reproducibility among specialists appears limited. METHODS: We investigated whether quantitative analysis of an upper limb coordination task (the finger-to-nose test) could discriminate between physiological and pathological conditions impacting coordination. We used inertial measurement units to estimate movement trajectories of the participants while they executed the finger-to-nose test. We employed random forests to classify each participant in one category. FINDINGS: On average, 87.4% of controls, 74.4% of early onset ataxia and 24.8% of developmental coordination disorder patients were correctly classified. The relatively good classification of early onset ataxia patients and controls contrasts with the poor classification of developmental coordination disorder patients. INTERPRETATION: In absence of a gold phenotypic standard for developmental coordination disorder recognition, it remains elusive whether the finger-to-nose test in these patients represents a sufficiently accurate entity to reflect symptoms distinctive of this disorder. Based on the relatively good results in early onset ataxia patients and controls, we conclude that quantitative analysis of the finger-to-nose test can provide a reliable support tool during the assessment of phenotypic early onset ataxia.
Assuntos
Ataxia/classificação , Ataxia/diagnóstico , Transtornos das Habilidades Motoras/classificação , Transtornos das Habilidades Motoras/diagnóstico , Exame Neurológico/métodos , Adolescente , Criança , Dedos , Humanos , Movimento , Nariz , Reprodutibilidade dos TestesRESUMO
ABSTRACT Introduction: The clinical assessment of patients with ataxias requires reliable scales. We aimed to translate, adapt and validate the International Cooperative Ataxia Rating Scale (ICARS) into Brazilian Portuguese. Methods: The steps of this study were forward translation, translation synthesis, backward translation, expert committee meeting, preliminary pilot testing and final assessment. Thirty patients were enrolled in the preliminary pilot testing and 61 patients were evaluated for construct validity, internal consistency, intra- and inter-rater reliability and external consistency. Results: This study showed good validity of the construct and high internal consistency for the full scale, except for the oculomotor domain (Cronbach's alpha = 0.316, intraclass correlation coefficients intra- = 82.4% and inter- = 79.2%). A high correlation with the Scale for the Assessment and Rating of Ataxia was observed. We found good intra-rater agreement and relative inter-rater disagreement, except in the posture and gait domain. Conclusion: The present ICARS version is adapted for the Brazilian culture and can be used to assess our ataxic patients.
RESUMO Introdução: A avaliação clínica de pacientes atáxicos requer instrumentos confiáveis. Nosso objetivo foi traduzir, adaptar culturalmente e validar a International Cooperative Ataxia Rating Scale (ICARS) para a língua portuguesa do Brasil. Métodos: As etapas foram tradução, síntese das traduções, retrotradução, comitê de especialistas, pré-teste e avaliação final. O pré-teste foi realizado com 30 pacientes. Outros 61 pacientes foram avaliados para validade do constructo, consistência interna, confiabilidade intra e interexaminadores e consistência externa. Resultados: Este estudo mostrou boa validade do constructo e alta consistência interna para o total da escala, exceto para o domínio Oculomotor (alfa de Cronbach = 0.316, CCIintra = 82.4% e CCIinter = 79.2%). Alta correlação com a Scale for the Assessment and Rating of Ataxia foi observada. Nós encontramos boa concordância intraexaminador e relativa discordância interexaminadores, com exceção dos domínios postura e marcha. Conclusão: Esta versão da ICARS está adaptada para a cultura brasileira e pode ser usada em pacientes com ataxia.
Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Ataxia/diagnóstico , Inquéritos e Questionários/normas , Psicometria , Ataxia/classificação , Traduções , Índice de Gravidade de Doença , Brasil , Comparação Transcultural , Reprodutibilidade dos Testes , IdiomaRESUMO
Cervical myelopathy (CM) caused by spinal cord compression can lead to reduced hand dexterity. However, except for the 10 sec grip-and-release test, there is no objective assessment system for hand dexterity in patients with CM. Therefore, we evaluated the hand dexterity impairment of patients with CM objectively by asking them to perform a natural prehension movement. Twenty-three patients with CM and 30 age-matched controls were asked to reach for and grasp a small object with their right thumb and index finger and to subsequently lift and hold it. To examine the effects of tactile afferents from the fingers, objects with surface materials of differing textures (silk, suede, and sandpaper) were used. All patients also underwent the Japanese Orthopedic Association (JOA) test. Preoperative patients showed significantly greater grip aperture during reach-to-grasp movements and weaker grip force than controls only while attempting to lift the most slippery object (silk). Patients, immediately after surgery, (n = 15) tended to show improvements in the JOA score and in reaction time and movement time with respect to reaching movements. Multiple regression analysis demonstrated that some parameters of the prehension task could successfully predict subjective evaluations of dexterous hand movements based on JOA scores. These results suggest that quantitative assessments using prehension movements could be useful to objectively evaluate hand dexterity impairment in patients with CM.
Assuntos
Ataxia/classificação , Ataxia/diagnóstico , Desempenho Psicomotor/classificação , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Dedos , Mãos , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora/fisiologia , Movimento , Compressão da Medula Espinal/complicações , Doenças da Medula Espinal/complicaçõesRESUMO
Primary episodic ataxias (EAs) are a group of dominantly inherited disorders characterized by transient recurrent incoordination and truncal instability, often triggered by physical exertion and emotional stress, variably associated with progressive baseline ataxia. There are now eight designated subtypes based largely on genetic loci. Mutations have been identified in multiple individuals and families with EA1, EA2, and EA6, mostly with onset before adulthood. EA1 and EA2 are prototypical neurologic channelopathies. EA1 is caused by heterozygous mutations in KCNA1, which encodes the α1 subunit of a neuronal voltage-gated potassium channel, Kv1.1. EA2, the most common and best characterized, is caused by heterozygous mutations in CACNA1A, which encodes the α1A subunit of a neuronal voltage-gated calcium channel, Cav2.1. EA6 is caused by heterozygous mutations in SLC1A3, which encodes a subunit of a glial excitatory amino acid transporter, EAAT1. The other EA subtypes were defined in single families awaiting gene identification and further confirmation. This chapter focuses on the best-characterized EA syndromes, the clinical assessment and genetic diagnosis of EA, and the management of EA, as well as newly recognized allelic disorders that have greatly expanded the clinical spectrum of EA2. Illustrative cases are discussed, with a focus on sporadic patients with congenital features without episodic ataxia who present diagnostic and therapeutic challenges.
Assuntos
Ataxia/genética , Canal de Potássio Kv1.1/genética , Mutação/genética , Ataxia/classificação , Canalopatias/etiologia , Canalopatias/genética , Transportador 1 de Aminoácido Excitatório/genética , HumanosRESUMO
No disponible
Assuntos
Ataxia/classificação , Doenças Neurodegenerativas/classificação , Índice de Gravidade de Doença , Progressão da DoençaRESUMO
OBJECTIVES: Digital rectal examination (DRE) is a simple clinical method to diagnose anorectal disorders. High-resolution antorectal manometry (HRAM) based on a spatiotemporal plot is expected to promote improved diagnostic accuracy. However, there are no reports comparing the effectiveness of DRE and HRAM. The aim of our study was therefore to evaluate the diagnostic value of DRE compared with HRAM. METHODS: A total of 309 consecutive patients with chronic constipation (n=268) or fecal incontinence (n=41) who underwent a standardized DRE, HRAM, and balloon expulsion test were enrolled in this study. The diagnostic yield of DRE compared with HRAM was determined, and agreement between DRE and HRAM data was evaluated. RESULTS: Of the constipated patients, 207 (77.2%) were diagnosed with dyssynergia using HRAM. The sensitivity, specificity, and positive predictive value of DRE in the diagnosis of dyssynergia were 93.2%, 58.7%, and 91.0%, respectively, and moderate agreement was seen between the two modalities (κ-coefficient =0.542, P<0.001). In patients with fecal incontinence, there was moderate agreement in terms of anal squeeze pressure between the two modalities (κ-coefficient =0.418, P=0.006); however, there was poor agreement for anal resting tone (κ-coefficient =0.079, P=0.368). CONCLUSIONS: DRE shows high sensitivity and positive predictive value in detecting dyssynergia compared with HRAM, and could therefore be used as a bedside screening test for the diagnosis of this disorder. Further studies are warranted to evaluate the correlation between DRE and HRAM in assessing anal sphincter pressure.
Assuntos
Ataxia/diagnóstico , Constipação Intestinal/etiologia , Exame Retal Digital , Incontinência Fecal/etiologia , Manometria , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Canal Anal/fisiopatologia , Ataxia/classificação , Ataxia/complicações , Doença Crônica , Feminino , Humanos , Masculino , Manometria/métodos , Pessoa de Meia-Idade , Contração Muscular , Relaxamento Muscular , Valor Preditivo dos Testes , Pressão , Adulto JovemRESUMO
AIM: To investigate ataxia rating scales in children for reliability and the effect of age and sex. METHOD: Three independent neuropaediatric observers cross-sectionally scored a set of paediatric ataxia rating scales in a group of 52 healthy children (26 males, 26 females) aged 4 to 16 years (mean age 10y 5mo SD 3y 11mo). The investigated scales involved the commonly applied International Cooperative Ataxia Rating Scale (ICARS), the Scale for Assessment and Rating of Ataxia (SARA), the Brief Ataxia Rating Scale (BARS), and PEG-board tests. We investigated the interrelatedness between individual ataxia scales, the influence of age and sex, inter- and intra-observer agreement, and test-retest reliability. RESULTS: Spearman's rank correlations revealed strong correlations between ICARS, SARA BARS, and PEG-board test (all p<0.001). ICARS, SARA, BARS and PEG-board test outcomes were age-dependent until 12.5, 10, 11, and 11.5 years of age respectively. Intraclass correlation coefficients (ICCs) varied between moderate and almost perfect (interobserver agreement: 0.85, 0.72, and 0.69; intraobserver agreement: 0.92, 0.94, and 0.70; and test-retest reliability: 0.95, 0.50, and 0.71; for ICARS, SARA, and BARS respectively). Interobserver variability decreased after the sixth year of life. INTERPRETATION: In healthy children, ataxia rating scales are reliable, but should include age-dependent interpretation in children up to 12 years of age. To enable longitudinal interpretation of quantitative ataxia rating scales in children, European paediatric normative values are necessary.