Evaluación funcional para personas no ambulantes afectas de atrofia muscular espinal y distrofia muscular de Duchenne. Traducción y validación de la escala <i>Egen Klassifikation 2</i> para la población española

Mata, Joaquim Fagoaga; Farrés, Montserrat Girabent; Bagur-Calafat, Caritat; Rotger, Anna Febrer; Steffensen, Birgit F.

doi:10.33588/rn.6010.2015007

Cited by 4 publications

(5 citation statements)

References 15 publications

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“…Each item is scored from 0 to 3 for a maximum of 51 points (higher scores indicating worse function). The EK2 was designed for non‐ambulatory SMA patients, and its convergent validity has been shown in SMA patients with different age ranges, including older adults [ 16 , 17 , 18 ]. The ALSFRS‐R, which is a functional scale that includes 12 items covering four domains (bulbar, upper limbs, lower limbs, respiratory).…”

Section: Methodsmentioning

confidence: 99%

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Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy

Vázquez-Costa

Povedano

Nascimiento‐Osorio

et al. 2022

Euro J of Neurology

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Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients. Methods Patients older than 15 years and followed up in five referral centres for at least 6 months, between October 2015 and August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper Limb module [RULM]) were included. Bedside functional scales (Egen Klassification [EK2], Revised Amyotrophic Lateral Sclerosis Functional Rating Scale [ALSFRS‐R]) were also collected when available. Spearman's rho correlations (rs) and Bangdiwala's concordance test (B) were used to evaluate the scales' construct validity. Monthly slopes of change were used to calculate their responsiveness of the scales. Results The study included 79 SMA patients, followed up for a mean of 16 months. All scales showed strong correlations with each other (rs > 0.70). A floor effect in motor function scales was found in the weakest patients (HFMSE < 5 and RULM < 10), and a ceiling effect was found in stronger patients (HFMSE > 60 and RULM > 35). The ALSFRS‐R (B = 0.72) showed a strong ability to discriminate between walkers, sitters and non‐sitters, and the HFMSE (B = 0.86) between walkers and sitters. The responsiveness was low overall, although in treated patients a moderate responsiveness was found for the ALSFRS‐R and HFMSE in walkers (0.69 and 0.61, respectively) and for EK2 in sitters (0.65) and non‐sitters (0.60). Conclusions This study shows the validity and limitations of the scales most frequently used to assess adult SMA patients. Overall, bedside functional scales showed some advantages over motor scales, although all showed limited responsiveness.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy

Vázquez-Costa

Povedano

Nascimiento‐Osorio

et al. 2022

Euro J of Neurology

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“…The following outcome measures were prospectively recorded at baseline and after 6 and 12 months of treatment: body mass index (BMI), percent predicted forced vital capacity (FVC%), the Revised Upper Limb Module (RULM), 5 the Egen Klassification (EK2), 6 and the Amyotrophic Lateral Sclerosis Functional Rating Scale—Revised (ALSFRS‐R) 7 . Moreover, those measurements at 12 months before treatment were retrospectively recorded.…”

Section: Methodsmentioning

confidence: 99%

Risdiplam in non‐sitter patients aged 16 years and older with 5q spinal muscular atrophy

et al. 2023

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Introduction/Aims Risdiplam has been approved for the treatment of patients with 5q spinal muscular atrophy (SMA), but data from type 2 non‐sitter patients are lacking. In this study we describe our experience regarding the use of risdiplam in a series of type 2 non‐sitter patients. Methods Type 2 SMA patients over 16 years of age were administered risdiplam through the expanded access program (NCT04256265). Patients were followed‐up with a battery of scales and clinical measures. Results Six non‐sitter patients (17 to 46 years old) were treated with risdiplam. One patient reported mild adverse events (dyspepsia and headache). After 1 year of treatment, all patients showed clinically meaningful improvements in at least one scale and none of them showed any clinically meaningful deterioration. Two patients showed a clinically meaningful increase in body mass index (>5%) and two others scored higher on the Revised Upper Limb Module (>2 points). Moreover, five patients had clinically meaningful improvements on the Egen Klassifikation 2 scale (>2 points), including the motor (axial and upper limbs), bulbar (speech and swallowing), and respiratory (coughing) domains. Four subjects achieved at least one of the goals set with the Goal Attainment Scale (GAS). Discussion This series suggests that risdiplam is safe and may be effective in non‐sitter SMA patients older than 16 years of age. In these patients, functional scales and the GAS would be more sensitive than motor scales to detect changes, because they include axial, bulbar, and respiratory domains. Larger studies are needed to confirm these results.

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“…A escala EK é de origem dinamarquesa que significa "nossa própria classificação", foi desenvolvida visando quantificar o grau de limitação funcional de pacientes com DMD em fase avançada da doença. Essa escala mostrou grande correlação com medidas de força muscular periférica, intensidade das contraturas musculares, anos de uso de cadeira de rodas e capacidade vital forçada (Fagoaga et al, 2015).…”

Section: Instrumentos De Avaliaçãounclassified

“…Subdivide-se em dez categorias, cada uma com quatro alternativas, que fornecem escores parciais entre 0 e 3. Um escore total é obtido pela soma dos escores parciais e varia entre 0 e 30 (Fagoaga et al, 2015).…”

Section: Instrumentos De Avaliaçãounclassified

Correlação da função motora e respiratória de indivíduos com distrofia muscular de Duchenne

Garção

Andrade

Santos

et al. 2022

RSD

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Uma vez que a fraqueza gradual dos músculos respiratórios, principalmente o diafragma, induz complicações respiratórias, o acompanhamento da função pulmonar de pessoas com Distrofia Muscular de Duchenne (DMD) é primordial. Vale destacar que essa deficiência no sistema respiratório é a maior causa de morte de pacientes com DMD. Objetivou-se correlacionar a função motora e respiratória de indivíduos com DMD. Foram avaliados 14 indivíduos sendo subdivididos 09 no grupo estudo e 05 no grupo controle; todos do gênero masculino, com faixa etária de 11,3 (± 0,5) anos. A avaliação foi realizada através das escalas para medida de função motora (MFM), Elgen Klassifikation (EK) e exames de espirometria e manovacuometria. As variáveis da MFM, EK, espirometria e manovacuometria foram analisadas por meio do teste t - student (p<0.05). Foram considerados valores significativos entre função motora e variáveis espirométricas e pressões respiratórias analisados através do índice de correlação de Pearson. Foi demonstrada significativa redução da função motora e maior dependência funcional de indivíduos com DMD. As avaliações espirométricas e manovacuométricas evidenciaram redução da função pulmonar, e as correlações foram significativas, evidenciando forte relação entre o declínio da função motora concomitante à função pulmonar. Os resultados deste estudo apontam que o comprometimento da função motora prediz a intensidade das alterações respiratórias. Pode-se concluir que, nos indivíduos com DMD a função motora e respiratória são reduzidas de acordo com o avanço da idade; e que o desempenho funcional e as condições respiratórias estão diretamente associados. Sugere-se que o tratamento respiratório deve ser realizado combinado ao tratamento do desempenho funcional.

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Evaluación funcional para personas no ambulantes afectas de atrofia muscular espinal y distrofia muscular de Duchenne. Traducción y validación de la escala Egen Klassifikation 2 para la población española

Cited by 4 publications

References 15 publications

Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy

Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy

Risdiplam in non‐sitter patients aged 16 years and older with 5q spinal muscular atrophy

Correlação da função motora e respiratória de indivíduos com distrofia muscular de Duchenne

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