Transcultural adaptation and validation of the Spanish-language version of ACTIVLIM in adults with inherited myopathies using the Rasch model.

INTRODUCTION: ACTIVLIM is an instrument for the measurement of activity limitations in patients with neuromuscular disorders. The aim of this study is to establish a transcultural adaptation and psychometric validation of the Spanish-language version of ACTIVLIM in a sample of Spanish patients with inherited myopathies. PATIENTS AND METHOD: A Spanish-language version of ACTIVLIM was developed using the translation/back translation method. The questionnaire was administered to 135 patients with inherited myopathies. The psychometric properties of the questionnaire were assessed using the Rasch model. Floor and ceiling effects were estimated. Unidimensionality was evaluated with a principal component analysis of the residuals of the model, and using infit and outfit statistics. We estimated reliability with the person separation reliability index and invariance with differential item functioning. External construct validity was tested through correlation with the Brooke scale, the Vignos scale, the Functional Independence Measure scale, and floor-to-stand time. Test-retest reliability was evaluated with the intraclass correlation coefficient and differential item functioning. RESULTS: The psychometric analysis of the Spanish-language version of ACTIVLIM demonstrated that floor effect was absent, although a modest ceiling effect was identified. The instrument displayed unidimensionality, good internal consistency, external construct validity, and good test-retest reliability. CONCLUSION: The Spanish-language version of ACTIVLIM is a valid and reliable measurement instrument for assessing activity limitations in patients with inherited myopathies.

ACTIVLIM: adaptación transcultural al castellano y validación en adultos con miopatías hereditarias utilizando el modelo Rasch / Transcultural adaptation and validation of the Spanish-language version of ACTIVLIM in adults with inherited myopathies using the Rasch model

Introducción: ACTIVLIM es un instrumento de medición de la limitación funcional en pacientes con enfermedades neuromusculares. El objetivo de este estudio es la adaptación transcultural y la validación psicométrica de la versión en castellano del ACTIVLIM en una muestra española de pacientes con miopatías hereditarias.Pacientes y métodoSe elaboró una versión en castellano del cuestionario ACTIVLM mediante el método de traducción-retrotraducción. El cuestionario obtenido fue cumplimentado por 135 pacientes con miopatías hereditarias. Las propiedades psicométricas del mismo fueron evaluadas mediante el modelo Rasch. Se valoró la adecuación del rango mediante la estimación de efectos techo y suelo; la unidimensionalidad mediante análisis de componentes principales de los residuales del modelo y estadísticos infit y outfit; la fiabilidad mediante el índice de fiabilidad asociado al índice de separación y la invarianza mediante la estimación del funcionamiento diferencial. Asimismo, la validez de constructo se evaluó estimando la correlación con las escalas de Brooke, de Vignos, la medida de independencia funcional y el tiempo de Gowers, y la fiabilidad test-retest mediante el índice de correlación intraclase y con el plot del funcionamiento diferencial del ítem.ResultadosEl análisis psicométrico de la versión en castellano del ACTIVLIM demostró ausencia de efecto suelo y moderado efecto techo, unidimensionalidad, una buena consistencia interna, validez externa de constructo y buena fiabilidad test-retest.ConclusiónLa versión en castellano del ACTIVLIM es un instrumento de medición válido y fiable para evaluar las limitaciones en la actividad en pacientes con miopatías hereditarias. (AU)

Introduction: ACTIVLIM is an instrument for the measurement of activity limitations in patients with neuromuscular disorders. The aim of this study is to establish a transcultural adaptation and psychometric validation of the Spanish-language version of ACTIVLIM in a sample of Spanish patients with inherited myopathies.Patients and methodA Spanish-language version of ACTIVLIM was developed using the translation/back translation method. The questionnaire was administered to 135 patients with inherited myopathies. The psychometric properties of the questionnaire were assessed using the Rasch model. Floor and ceiling effects were estimated. Unidimensionality was evaluated with a principal component analysis of the residuals of the model, and using infit and outfit statistics. We estimated reliability with the person separation reliability index and invariance with differential item functioning. External construct validity was tested through correlation with the Brooke scale, the Vignos scale, the Functional Independence Measure scale, and floor-to-stand time. Test-retest reliability was evaluated with the intraclass correlation coefficient and differential item functioning.ResultsThe psychometric analysis of the Spanish-language version of ACTIVLIM demonstrated that floor effect was absent, although a modest ceiling effect was identified. The instrument displayed unidimensionality, good internal consistency, external construct validity, and good test-retest reliability.ConclusionThe Spanish-language version of ACTIVLIM is a valid and reliable measurement nstrument for assessing activity limitations in patients with inherited myopathies. (AU)

Validity of the Physical Activity Questionnaires IPAQ-SF and GPAQ for Cancer Survivors: Insights from a Spanish Cohort.

Regular physical activity (PA) decreases mortality risk in survivors of breast and colorectal cancer. Such impacts of exercise have prompted initiatives designed both to promote and adequately monitor PA in cancer survivors. This study examines the validity of 2 widely used self-report methods for PA determination, the International Physical Activity Questionnaire short version (IPAQ-SF) and Global Physical Activity Questionnaire (GPAQ). Both instruments were compared with the triaxial accelerometry (Actigraph) method as an objective reference standard. Study participants were 204 cancer survivors (both sexes, aged 18-79 years). Compared with accelerometry, both questionnaires significantly overestimated PA levels (across all intensities) and underestimated physical inactivity levels. No differences were detected between the 2 questionnaires except for a shorter inactivity time estimated by GPAQ (p=0.001). The Bland and Altman method confirmed that both questionnaires overestimated all PA levels. Receiver operating characteristic (ROC) analysis classified IPAQ and GPAQ as fair and poor predictors, respectively, of the proportions of survivors fulfilling international PA recommendations (≥150 min·week-1 of moderate-vigorous PA). IPAQ-SF showed a higher sensitivity but lower specificity than GPAQ. Our data do not support the use of IPAQ-SF or GPAQ to determine PA or inactivity levels in cancer survivors.

Descripción de una serie de pacientes con diagnóstico de enfermedad priónica / Clinical and neuroimaging characteristics of 14 patients with prionopathy: A descriptive study

Introducción: Las prionopatías representan hasta el 62% de los casos de demencia rápidamente progresiva (DRP) en los que se alcanza un diagnóstico definitivo. La variabilidad de los síntomas y signos iniciales y las diferencias en su evolución dificultan el diagnóstico precoz. Métodos: Estudio retrospectivo en el que se incluye a pacientes con prionopatía probable o definitiva, que acudieron a la consulta de Neurología de nuestro centro durante el periodo 1999-2012. Se describen las características clínicas y los resultados de las exploraciones complementarias (proteína 14-3-3, EEG, RM, PET-FDG y análisis genético), con la finalidad de identificar qué marcadores permiten un diagnóstico precoz. Resultados: Se describe a 14 pacientes: 6 con enfermedad de Creutzfeldt-Jakob esporádica (ECJe) definitiva, 3 con ECJe probable, 4 con insomnio familiar fatal y uno con la nueva variante de la enfermedad de Creutzfeldt-Jakob. La mediana de edad al diagnóstico fue de 54 años y la mediana de supervivencia de 9,5 meses. El trastorno del ánimo fue el síntoma inicial más frecuente, seguido de inestabilidad de la marcha y deterioro cognitivo. La proteína 14-3-3 fue positiva en el líquido cefalorraquídeo en 7 de 11 pacientes y el EEG mostró signos típicos en 2 de 12 pacientes explorados. El estudio de neuroimagen mostró alteraciones en 13 de los 14 pacientes. Conclusiones: Además de la DRP, el trastorno conductual y de la marcha son síntomas iniciales frecuentes en las prionopatías. En nuestra serie, las pruebas complementarias más útiles para apoyar el diagnóstico fueron la RM y la PET-FDG

Introduction: Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult. Methods: Patients withdiagnosis of definite or probable prionopathy during the period 1999-2012 at our hospital were retrospectively reviewed.The clinical features and the results of the complementary tests (14-3-3 protein, EEG, MRI, FDG-PET, and genetic analysis) were evaluated in order to identify some factors that may enable an earlier diagnosis to be made. Results: A total of 14 patients are described: 6 with definite sporadic Creutzfeldt-Jakob (sCJD) disease, 3 with probable sCJD, 4 with fatal familial insomnia, and 1 with the new variant. The median age at diagnosis was 54 years old. The mean survival was 9.5 months. Mood disorder was the most common feature, followed by instability and cognitive impairment. 14-3-3 protein content in the cerebrospinal fluid was positive in 7 of 11 patients, and the EEG showed typical signs in 2 of 12 patients. Neuroimaging (FDG-PET, MRI) studies suggested the diagnosis in 13 of the 14 patients included. Conclusions: Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied

Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study.

INTRODUCTION: Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult. METHODS: Patients withdiagnosis of definite or probable prionopathy during the period 1999-2012 at our hospital were retrospectively reviewed.The clinical features and the results of the complementary tests (14-3-3 protein, EEG, MRI, FDG-PET, and genetic analysis) were evaluated in order to identify some factors that may enable an earlier diagnosis to be made. RESULTS: A total of 14 patients are described: 6 with definite sporadic Creutzfeldt-Jakob (sCJD) disease, 3 with probable sCJD, 4 with fatal familial insomnia, and 1 with the new variant. The median age at diagnosis was 54 years old. The mean survival was 9.5 months. Mood disorder was the most common feature, followed by instability and cognitive impairment. 14-3-3 protein content in the cerebrospinal fluid was positive in 7 of 11 patients, and the EEG showed typical signs in 2 of 12 patients. Neuroimaging (FDG-PET, MRI) studies suggested the diagnosis in 13 of the 14 patients included. CONCLUSIONS: Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied.

Neuroimagen estructural y funcional en las enfermedades priónicas humanas / Structural and functional neuroimaging in human prion diseases

Introducción: Las prionopatías son un conjunto de enfermedades neurodegenerativas producidas por el acúmulo de una isoforma anormal de la proteína priónica celular (PrPc). Se clasifican en adquiridas, hereditarias y esporádicas. Aunque son muchas las características clí- nicas, evolutivas y anatomopatológicas que las diferencian, todas ellas tienen en común un curso desfavorable y un pronóstico fatal. Desarrollo: Si bien algunos tipos como el kuru, prácticamente han desaparecido, otras formas como la variante de la enfermedad de Creutzfeldt-Jakob (vECJ) o la iatrogénica siguen vigentes y suponen un reto en la medicina actual. El diagnóstico de certeza se realiza postmortem, salvo en el caso de la vECJ en la que la biopsia amigdalar puede detectar el 100% de los casos. Ello ha supuesto que se definan criterios diagnósticos en función de una probabilidad estadística, que precisa la realización de exámenes complementarios tales como el estudio electroencefalográ- fico y la detección de la proteína 14-3-3 en el líquido cefalorraquídeo (LCR). Solamente la vECJ ha llegado a incluir en los criterios diagnósticos de la OMS el «signo del pulvinar» en resonancia magnética cerebral(RM). En este artículo se revisan los hallazgos de neuroimagen que han sido descritos para cada tipo de prionopatía en pacientes con un diagnóstico de certeza. Conclusiones: La finalidad es definir la utilidad de estas pruebas complementarias como una herramienta de apoyo para el diagnóstico de este conjunto de enfermedades neurodegenerativas (AU)

Introduction: Prion diseases are neurodegenerative disorders resulting from the accumulation of a misfolded isoform ofthe cellular prion protein (PrPc). They can occur as acquired, sporadic, or hereditary forms. Although prion diseases show a wide range of phenotypic variations, pathological features and clinical evolution, they are all characterised by a common unfavourable course and a fatal outcome. Review summary: Some variants, such as kuru, have practically disappeared, while others, for example the variant Creutzfeldt-Jakob (vCJD) or those attributable to iatrogenic causes, are still in force and pose a challenge to current medicine. There are no definitive pre-mortem diagnostic tests, except for vCJD, where a tonsil biopsy detects 100% of the cases. For this reason, diagnostic criteria dependent on statistical probability have had to be created. These require complementary examinations, such as an electroencephalogram (EEG) orthe detection of 14-3-3 protein in cerebrospinal fluid (CSF).Only the pulvinar sign in magnetic resonance imaging (MRI) has been included as a vCJD diagnostic criterion. The presentreview discusses neuroimaging findings for each type of prion disease in patients with a definitive histopathological diagnosis. Conclusions: The aim is to define the usefulness of these complementary examinations as a tool for the diagnosis of this family of neurodegenerative diseases (AU)

Structural and functional neuroimaging in human prion diseases.

INTRODUCTION: Prion diseases are neurodegenerative disorders resulting from the accumulation of a misfolded isoform of the cellular prion protein (PrPc). They can occur as acquired, sporadic, or hereditary forms. Although prion diseases show a wide range of phenotypic variations, pathological features and clinical evolution, they are all characterised by a common unfavourable course and a fatal outcome. REVIEW SUMMARY: Some variants, such as kuru, have practically disappeared, while others, for example the variant Creutzfeldt-Jakob (vCJD) or those attributable to iatrogenic causes, are still in force and pose a challenge to current medicine. There are no definitive pre-mortem diagnostic tests, except for vCJD, where a tonsil biopsy detects 100% of the cases. For this reason, diagnostic criteria dependent on statistical probability have had to be created. These require complementary examinations, such as an electroencephalogram (EEG) or the detection of 14-3-3 protein in cerebrospinal fluid (CSF). Only the pulvinar sign in magnetic resonance imaging (MRI) has been included as a vCJD diagnostic criterion. The present review discusses neuroimaging findings for each type of prion disease in patients with a definitive histopathological diagnosis. CONCLUSIONS: The aim is to define the usefulness of these complementary examinations as a tool for the diagnosis of this family of neurodegenerative diseases.