RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

From 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014).Rare diseases; clinical practice guidelines; recommendations. RARE-Bestpractices (http://www.rarebestpractices.eu) is a 4-year project (2013-2016) funded by the EC FP7. The project aims at improving clinical management of patients with rare diseases (RD) and at narrowing the existing gap in quality of healthcare among countries. Methods: RARE-Bestpractices (http://www.rarebestpractices.eu) involves 9 EU countries, including 15 partners from academic institutions, governmental bodies, patient organizations and networks, which will exploit the added value of integrating different contributions and viewpoints. The platform is developed involving both experts in RD research as well as experts in clinical practice guidelines (CPG) and systematic reviews. Results: Project expected outputs include: 1) identification of challenges to be considered in deriving high quality standards for CPG on RD; 2) transparent procedures and criteria for the evaluation of CPG and their collection in a publicly searchable database; 3) identification of notation criteria to improve user understandability and implementation of CPG; 4) production of mechanisms to assess RD clinical research needs; 5) development of training activities targeted to key stakeholders to disseminate process and tools for developing and evaluating CPG; 6) the publication of a new scientific journal (http://rarejournal.org). Discussion: RARE-Bestpractices addresses the demands from both patients and health care providers for updated and high quality CPG on RD. The project will meet the requirements laid down by to the Directive 2011/24/EU, which endorses EU MS to develop European Reference Networks (ERNs) for RD; in fact, one main criterion for ERNs should be the competence to produce CPG and actively disseminate them among Centers of Expertise.N

Acceptability and feasibility of a virtual community of practice to primary care professionals regarding patient empowerment : A qualitative pilot study

Background: Virtual communities of practice (vCoPs) facilitate online learning via the exchange of experiences and knowledge between interested participants. Compared to other communities, vCoPs need to overcome technological structures and specific barriers. Our objective was to pilot the acceptability and feasibility of a vCoP aimed at improving the attitudes of primary care professionals to the empowerment of patients with chronic conditions. Methods: We used a qualitative approach based on 2 focus groups: one composed of 6 general practitioners and the other of 6 practice nurses. Discussion guidelines on the topics to be investigated were provided to the moderator. Sessions were audio-recorded and transcribed verbatim. Thematic analysis was performed using the ATLAS-ti software. Results: The available operating systems and browsers and the lack of suitable spaces and time were reported as the main difficulties with the vCoP. The vCoP was perceived to be a flexible learning mode that provided up-to-date resources applicable to routine practice and offered a space for the exchange of experiences and approaches. Conclusions: The results from this pilot study show that the vCoP was considered useful for learning how to empower patients. However, while vCoPs have the potential to facilitate learning and as shown create professional awareness regarding patient empowerment, attention needs to be paid to technological and access issues and the time demands on professionals. We collected relevant inputs to improve the features, content and educational methods to be included in further vCoP implementation. Trial registration: ClinicalTrials.gov, NCT02757781. Registered on 25 April 2016

Acceptability and feasibility of a virtual community of practice to primary care professionals regarding patient empowerment: A qualitative pilot study

Background: Virtual communities of practice (vCoPs) facilitate online learning via the exchange of experiences and knowledge between interested participants. Compared to other communities, vCoPs need to overcome technological structures and specific barriers. Our objective was to pilot the acceptability and feasibility of a vCoP aimed at improving the attitudes of primary care professionals to the empowerment of patients with chronic conditions. Methods: We used a qualitative approach based on 2 focus groups: one composed of 6 general practitioners and the other of 6 practice nurses. Discussion guidelines on the topics to be investigated were provided to the moderator. Sessions were audio-recorded and transcribed verbatim. Thematic analysis was performed using the ATLAS-ti software. Results: The available operating systems and browsers and the lack of suitable spaces and time were reported as the main difficulties with the vCoP. The vCoP was perceived to be a flexible learning mode that provided up-to-date resources applicable to routine practice and offered a space for the exchange of experiences and approaches. Conclusions: The results from this pilot study show that the vCoP was considered useful for learning how to empower patients. However, while vCoPs have the potential to facilitate learning and as shown create professional awareness regarding patient empowerment, attention needs to be paid to technological and access issues and the time demands on professionals. We collected relevant inputs to improve the features, content and educational methods to be included in further vCoP implementation. Trial registration: ClinicalTrials.gov, NCT02757781. Registered on 25 April 2016.This study was financed by Instituto de Salud Carlos III and Cofinanced by Fondo Europeo de Desarrollo Regional (FEDER). Ministerio de Economía y Competitividad. Gobierno de España. (PI15/00164, PI15/00586, PI15/00566

Psicothema

Resumen tomado de la publicaciónSe han propuesto distintos modelos para explicar el fenómeno depresivo, tales como la teoría de las actitudes disfuncionales, la teoría de la desesperanza, el modelo conductual sobre el nivel de actividad o modelos temperamentales. Este artículo presenta datos sobre el papel de esos modelos en la predicción del nivel de depresión en una muestra de 414 estudiantes universitarios, con un intervalo temporal de seis meses. Se evaluaron las actitudes disfuncionales, los estilos atributivos, el nivel de actividad y los cinco factores de personalidad. Como medida de depresión se administró el BDI-II. Los resultados muestran que tales variables predicen los niveles de depresión, pero con coeficientes bajos. Especialmente la dimensión de Necesidad de Logro (actitud disfuncional) y la dimensión de Neuroticismo fueron las variables con mayor peso en la predicción, pero sólo el Neuroticismo parece comportarse como un elemento de vulnerabilidad. Los estilos atribucionales no contribuyeron significativamente en la predicción de la depresión. El nivel de actividad pierde su capacidad predictiva en el intervalo de seis meses. Estos resultados se discuten de acuerdo con el papel de los modelos propuestos y la necesidad de profundizar en la explicación de un mayor porcentaje de la varianza de las puntuaciones en depresión.AsturiasColegio Oficial de Psicólogos de Asturias; Calle Ildefonso Sánchez del Rio, 4-1 B; 33001 Oviedo; Tel. +34985285778; Fax +34985281374;ES

Health-related quality of life in patients with spinocerebellar ataxia

Introduction: The progressive deterioration of patients with spinocerebellar ataxia (SCA) has a major impact on their health-related quality of life (HRQOL). This study evaluates HRQOL in a sample of patients diagnosed with SCA and aims to estimate the predictive ability of a set of sociodemographic variables for the different dimensions of the General Health Questionnaire. Methods: A total of 80 patients diagnosed with SCA were assessed using a sociodemographic questionnaire and the SF-36 General Health Questionnaire. The sociodemographic variables studied were sex, age, presence of a carer, employment status, and time elapsed from diagnosis of the disease. Results: The 8 subscales of the SF-36 show positive and significant correlations to one another. Mean scores obtained on each SF-36 subscale differ between women and men, although this difference is significant only on the general health subscale, with men scoring higher than women. We found significant age differences on the vitality and social function subscales, with higher scores among younger patients (<34 years). The variable ‘presence of a carer’ accounts for most of the total variance of the questionnaire. Conclusions: The SF-36 is a valid and useful instrument for evaluating HRQOL in patients diagnosed with SCA. Presence of a carer seems to be a determinant of self-perceived quality of life in these patients. Resumen: Introducción: El deterioro progresivo de los pacientes con ataxias espinocerebelosas (AEC) genera un gran impacto sobre su calidad de vida relacionada con la salud (CVRS). En este estudio se evalúa la CVRS en una muestra de pacientes diagnosticados de AEC y se pretende estimar la capacidad predictiva de un conjunto de variables sociodemográficas en las distintas dimensiones que conforman el cuestionario. Métodos: Se evaluó a un total de 80 pacientes diagnosticados de AEC, a través de un cuestionario sociodemográfico y del cuestionario genérico de salud SF-36. Se estudiaron variables sociodemográficas como sexo, edad, existencia de cuidador, situación laboral y tiempo desde el diagnóstico de la enfermedad. Resultados: Las dimensiones que componen el SF-36 muestran correlaciones positivas y significativas entre ellas. Las puntuaciones medias obtenidas en cada una de las dimensiones difieren según el sexo, siendo significativa la diferencia solo en la dimensión salud general, con media más alta en los hombres. En relación con la edad, se encuentran diferencias significativas en las dimensiones vitalidad y función social, con puntuaciones mayores en el rango de menor edad (menores de 34 años). La variable que explica la mayor parte de la varianza del cuestionario es la existencia de cuidador. Conclusiones: El Cuestionario de Salud SF-36 es un instrumento válido y fiable para medir la CVRS en pacientes con diagnóstico de AEC. Asimismo, la variable existencia de cuidador parece determinar la calidad de vida autopercibida por estos pacientes. Keywords: Health-related quality of life, Questionnaire, Spinocerebellar ataxia, Patients, Short Form 36 Health Survey, Palabras clave: Calidad de vida relacionada con la salud, Cuestionario, Ataxias espinocerebelosas, Pacientes, Short Form 36 Health Surve

Calidad de vida relacionada con la salud en pacientes con ataxias espinocerebelosas

Resumen: Introducción: El deterioro progresivo de los pacientes con ataxias espinocerebelosas (AEC) genera un gran impacto sobre su calidad de vida relacionada con la salud (CVRS). En este estudio se evalúa la CVRS en una muestra de pacientes diagnosticados de AEC y se pretende estimar la capacidad predictiva de un conjunto de variables sociodemográficas en las distintas dimensiones que conforman el cuestionario. Métodos: Se evaluó a un total de 80 pacientes diagnosticados de AEC, a través de un cuestionario sociodemográfico y del cuestionario genérico de salud SF-36. Se estudiaron variables sociodemográficas como sexo, edad, existencia de cuidador, situación laboral y tiempo desde el diagnóstico de la enfermedad. Resultados: Las dimensiones que componen el SF-36 muestran correlaciones positivas y significativas entre ellas. Las puntuaciones medias obtenidas en cada una de las dimensiones difieren según el sexo, siendo significativa la diferencia solo en la dimensión salud general, con media más alta en los hombres. En relación con la edad, se encuentran diferencias significativas en las dimensiones vitalidad y función social, con puntuaciones mayores en el rango de menor edad (menores de 34 años). La variable que explica la mayor parte de la varianza del cuestionario es la existencia de cuidador. Conclusiones: El Cuestionario de Salud SF-36 es un instrumento válido y fiable para medir la CVRS en pacientes con diagnóstico de AEC. Asimismo, la variable existencia de cuidador parece determinar la calidad de vida autopercibida por estos pacientes. Abstract: Introduction: The progressive deterioration of patients with spinocerebellar ataxia (SCA) has a major impact on their health-related quality of life (HRQOL). This study evaluates HRQOL in a sample of patients diagnosed with SCA and aims to estimate the predictive ability of a set of sociodemographic variables for the different dimensions of the General Health Questionnaire. Methods: A total of 80 patients diagnosed with SCA were assessed using a sociodemographic questionnaire and the SF-36 General Health Questionnaire. The sociodemographic variables studied were sex, age, presence of a carer, employment status, and time elapsed from diagnosis of the disease. Results: The 8 subscales of the SF-36 show positive and significant correlations to one another. Mean scores obtained on each SF-36 subscale differ between women and men, although this difference is significant only on the general health subscale, with men scoring higher than women. We found significant age differences on the vitality and social function subscales, with higher scores among younger patients (< 34 years). The variable ‘presence of a carer’ accounts for most of the total variance of the questionnaire. Conclusions: The SF-36 is a valid and useful instrument for evaluating HRQOL in patients diagnosed with SCA. Presence of a carer seems to be a determinant of self-perceived quality of life in these patients. Palabras clave: Calidad de vida relacionada con la salud, Cuestionario, Ataxias espinocerebelosas, Pacientes, Short Form 36 Health Survey, Keywords: Health-related quality of life, Questionnaire, Spinocerebellar ataxia, Patients, Short Form 36 Health Surve

Patient involvement in health research: A contribution to a systematic review on the effectiveness of treatments for degenerative ataxias

This study aims to incorporate patients' perspective in the design of a systematic review of scientific literature on the effectiveness of degenerative ataxias (DA) treatments. 53 patients with DA from different regions of Spain were consulted using the Delphi method, with three rounds via e-mail. In the first round, obtained information was on treatments used and relevant self-perceived health problems related to DA. The following two rounds were used to prioritize and achieve a consensus on the answers. The participation rate was 100% for all rounds. The most relevant self-perceived health problems were limitations in activities of daily living (ADL), visual and auditory problems and diminished self-esteem. The bibliographic search for the systematic review was enriched by these patient contributions. No study offered information on treatment effectiveness for the following problems prioritized by patients: ADL, social relationships, disease acceptance and quality of life. Thus some of the self-perceived DA-related health problems identified by the patients have never been investigated and should be considered to improve future research projects which should be adapted to meet patients' needs. Effective participation of patients can extend the value of systematic reviews to ensure they respond to both clinicians' information needs and patients' expectations.Rare diseases Ataxia Patient participation Systematic review Research Treatment outcome Spain