Federación Española de Enfermedades Raras

ABSTRACT Objective While epilepsy research has largely focused on medical management and clinical outcomes, less attention has been given to the unmet psychosocial, and everyday needs of people with epilepsy (PWE), particularly in low- and middle-income countries. The Global Epilepsy Needs Study (GENS) aims to explore these needs, which are integral to quality of life, by capturing both shared and context-specific experiences. Methods GENS employed a patient-centered approach and mixed-methods design, integrating a cross-sectional survey and semi-structured interviews in 15 countries. The survey, available in 12 languages, captured experiences across 10 life domains (n=5296). Interviews, analysed thematically using a phenomenological approach and Colaizzi’s Method, explored lived experiences in depth (n=75). To ensure meaningful involvement and diverse representation, national patient associations, healthcare professionals, researchers and people with lived experience guided each stage of the research process, from study design to manuscript development. Results Quantitative and qualitative data were integrated using a joint display method. This analysis generated 5 Generalised Themes across all life domains: 1) Managing uncertainty and redefining daily life; 2) Living with risk, social exclusion, and misunderstanding; 3) Challenges in navigating inaccessible systems; 4) Consequences of inaccessible or inadequate information; and 5) Complex epilepsy needs demand more than standard approaches. Significance This first-of-its-kind global study offers a comprehensive picture of the psychosocial and everyday challenges faced by PWE. It establishes a critical evidence base for epilepsy organisations, highlights the need for healthcare systems to adopt holistic, multidisciplinary approaches, and calls on policymakers to invest in systemic reforms that safeguard dignity, inclusion, and life opportunities. Future research should explore the needs of underserved groups, including caregivers, individuals with complex epilepsy, women, and those in low-income or rural settings. Plain Language Summary This study looked at the everyday challenges faced by people with epilepsy in different parts of the world. It showed that many people struggle with fear, stigma, poor access to services, and a lack of clear information and support. Women, people in rural areas, and those in low-income settings often face the greatest challenges. The study calls for better education, more support for caregivers, and improvements across health, work, school, and transport systems. It also shows the need for more research to understand and respond to the real-life needs of people most impacted by epilepsy.

Abstract Purpose This study aimed to explore the influence of player’s physical performance and coaches’ efficacy expectations in the talent identification and selection process in international football for people with cerebral palsy (CP). Methods Physical performance (5 m and 30 m sprint, change of direction, and dribbling) was assessed for 44 international CP football players belonging to the Spanish U19 (n = 23) and absolute (n = 21) national teams. The CEE about their players’ performance were assessed for the U19 team. Results Players in the absolute team presented higher physical performance (16.7–47.9%; p = 0.01–0.04). CEEs for U19 players’ general ability to play football and future selection correlated to the players’ change of direction and dribbling abilities and to the coaches’ tactical expectations (r = 0.52–0.69; p < 0.05). The players’ dribbling ability and coaches’ tactical expectations were significant predictors of coaches’ expectations about player’s general ability to play football and to be selected for the absolute team (β = 0.55–0.69, p =0 .01–0.03, R 2 = 30–47%). Conclusion These results may provide important information about the talent identification and selection processes in international CP football.

La gota fría, esa temida Depresión Aislada en Niveles Altos (DANA), no solo trae consigo lluvias torrenciales, inundaciones y caos en las calles de l`horta sud de Valencia, sino que también plantea una amenaza particular para aquellos que dependen de un tratamiento médico vital, recurrente y habitual, como los pacientes en hemodiálisis. Esta DANA no solo se ha llevado más de 220 vidas humanas en Valencia, nos ha llenado de barro los hogares, las calles, los garajes, y en definitiva, tenemos barro en el corazón y en el alma. Durante la DANA del 29 de octubre, tres centros de hemodiálisis dejaron de funcionar por inundación. Los pacientes tuvieron que ser reubicados en hospitales y otros centros cercanos, y la mitad de la flota de ambulancias quedo inservible. Es imperativo que las administraciones públicas y los sistemas de salud integren las necesidades de los pacientes crónicos en sus planes de gestión de emergencias, con un plan de priorización y protocoles específicos para prevenir, gestionar y solucionar las necesidades que surgen en desastres naturales. La mejor escoba que tenemos para limpiar ese barro es el amor, es la solidaridad, es la esperanza de que esto jamás volverá a ocurrir, y que estaremos preparados porque habremos aprendido las lecciones que esta DANA nos ha obligado a reflexionar, planificar y tomar medidas de prevención. No pedimos un trato especial, solo que, en el fragor de la tormenta, nuestras necesidades como personas con enfermedad renal recibiendo tratamientos vitales, no se ahoguen en el olvido.

Institutions worldwide call for joint actions of multiple actors in partnerships to accelerate the transitions towards sustainable food systems and reach food security for everybody, allways. This requires insights into co-creating processes. Here, 52 European food system cases are analyzed. A methodology based on the game structure is used that permits standardizing data collection and extracting generic and cases-specific findings. Game building blocks correspond with key elements of co-creation processes, like defining mutually accepted objectives, engaging in types of activities, and efficient use of resources, boundary conditions, timings, and scales of operations. Results further indicate that different types of inclusive partnerships emerge, in which especially innovative private, including smallholders, and academic actors co-create value, all contributing to sustainability. The public and civil society actors emerge as important initiators, enablers, and organizers of scales of interaction, allowing generating snowball effects. Findings lead to an adapted concept for co-creating partnerships in food systems and recommendations for the European Partnership on sustainable food systems.

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare lysosomal disease caused by congenital enzymatic deficiencies in heparan sulfate (HS) degradation, leading to organ dysfunction. The most severe hallmark of MPS III comprises neurological alterations, although gastrointestinal symptoms (GISs) have also been shown to be relevant in many patients. Here, we explored the contribution of the gut microbiota to MPS III GISs. We analyzed the composition and functionality of the gut microbiota in two MPS III siblings with the same mutation (c.544C > T, c.1080delC, in the SGSH gene) and the same diet, but with differences in their GISs, including recurrent diarrhea in one of them. Using 16S sequencing, we observed that the MPS III patients exhibited decreased alpha diversity and a lower abundance of Lachnospiraceae and Bifidobacteriaceae accompanied by a higher abundance of the Ruminococcaceae and Rikenellaceae families than the healthy control subjects. Comparing siblings, we found an increased abundance of Bacteroidaceae and a lower abundance of Ruminococcaceae and Akkermansiaceae in the GIS-free patient. This patient also had a higher relative abundance of Sus genes (SusA, SusB, SusE, and SusG) involved in glycosaminoglycan metabolism. We found higher HS levels in the stool of the two MPS III patients than in healthy volunteers, particularly in the patient with GISs. Functionally, whole fecal metabolites from the patient with GISs induced oxidative stress in vitro in healthy monocytes. Finally, the Bacteroides thetaiotaomicron strain isolated from MPS III stool samples exhibited HS degradation ability. Overall, our results reveal different microbiota compositions and functionalities in MPS III siblings, who exhibited differential gastrointestinal symptomatology. Our study may serve as a gateway to explore the impact of the gut microbiota and its potential to enhance the quality of life in Sanfilippo syndrome patients.

Abstract Timely diagnosis is one of the most serious challenges faced by people living with a rare disease (PLWRD), and this new research estimates that in Europe, the average Total Diagnosis Time (TDT) is 4 to 5 years. We investigated the duration of the TDT for PLWRD in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases (RD). We conducted a survey of PLWRD and their families between March and June 2022 using Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe. In geographical Europe, we surveyed 6,507 people living with 1,675 RD in 41 countries. We then peformed a descriptive analysis and ordinal logistic regressions to identify the main determinants of diagnosis delays. Average TDT is 4.7 years. 56% of respondents were diagnosed more than 6 months after a first medical contact. The main determinants of diagnosis delays are symptom onset before 30 years of age, especially during childhood (OR = 3.11; 95% CI: 2.4-4.0) and adolescence (OR = 4.79; 95% CI: 3.7–6.2), being a woman (OR = 1.22; 95% CI:1.1–1.4), living in Northern Europe (OR = 2.15; 95% CI:1.8–2.6) or Western Europe (OR = 1.96; 95% CI:1.6–2.3), the number of healthcare professionals consulted (OR = 5.15; 95% CI:4.1–6.4), misdiagnosis (OR = 2.48; 95% CI:2.1–2.9), referral to a centre of expertise (OR = 1.17; 95% CI:1.0-1.3), unmet needs for psychological support (OR = 1.34; 95% CI:1.2–1.5) and financial support (OR = 1.16; 95% CI:1.0-1.3), having a genetic disease (OR = 1.33; 95% CI:1.1–1.5) and a family history of a RD (OR = 1.36; 95% CI:1.1–1.6). These determinants can inform policies and actions to improve access to diagnosis for all PLWRD.

Los planes de igualdad son una herramienta que contribuye a conseguir igualdad de trato y oportunidades entre hombres y mujeres. En el sector de la acción social cobran especial relevancia dada la confluencia de desigualdad de oportunidades que se producen. Este artículo propone una metodología para la evaluación, diseño e implantación de un plan de igualdad en una entidad de acción social como la Federación Española de Fibrosis Quística. Se utiliza una metodología participativa que parte de un exhaustivo diagnóstico en el que participan las personas trabajadoras y miembros de junta directiva de la entidad. El análisis del diagnóstico definirá un paquete de medidas que se alinean a los Objetivos de Desarrollo Sostenible. El resultado final es la implementación del compromiso con el principio de igualdad de oportunidades entre mujeres y hombres en la cultura organizacional del movimiento asociativo de Fibrosis Quística.