Registros y biobancos de enfermedades raras. Una oportunidad para avanzar

In recent years, rare disease (RD) registries and biobanks have arisen as key tools for research into this group of pathologies. This paper reviews the concept of registries and their value in the RD field, providing an overview of RD registries at a national and international level. Challenges and opportunities of the registries are also dealt with. Similarly, biobanks are presented as structures created to manage biological samples for their use in research. Ethical, legal and social issues related to the activity of biobanks and technical issues associated with harmonization, standardization and quality control of samples and related information are addressed. An overview of biobanks is offered, emphasizing their importance in the RD field and the need for collaboration with RD registries.Los registros y los biobancos de enfermedades raras se han convertido durante los últimos años en instrumentos clave para la investigación de este tipo de enfermedades. En el presente artículo se hace una revisión del concepto de registro y de la utilidad de los mismos en las enfermedades raras, se muestra un panorama de los registros de enfermedades raras en el ámbito internacional y nacional y se exponen los retos y las oportunidades que presentan los registros. Se presentan asimismo los biobancos como estructuras creadas con el fin de gestionar muestras biológicas para su uso en investigación. Se abordan los aspectos éticos, legales y sociales relacionados con la actividad de los biobancos y los aspectos técnicos asociados con la armonización, estandarización y control de calidad de las muestras y de la información relacionada y se ofrece un panorama general de los biobancos, recalcando su importancia en el ámbito de las enfermedades raras y la necesidad de colaboración con los registros de enfermedades raras

A corazón abierto: vivencias de madres y padres de menores con anomalías congénitas cardiacas

ResumenObjetivoExplorar con perspectiva de género las vivencias de madres y padres en los primeros momentos tras el diagnóstico de una anomalía congénita cardiaca en un/una hijo/a, integrando la visión de personal sanitario que atiende a estos/as menores y a sus familiares.MétodoEstudio de diseño cualitativo. Se realizaron cuatro entrevistas en profundidad a personal sanitario y cuatro grupos de discusión con madres y padres residentes en la Comunitat Valenciana. Los participantes se seleccionaron mediante muestreo intencionado. El análisis del discurso se trianguló entre ambas técnicas y entre investigadores, y se verificaron los resultados con madres, padres y profesionales sanitarios.ResultadosExisten diferencias entre madres y padres en la manera de expresar emocionalmente y afrontar el diagnóstico de una enfermedad grave en un/una hijo/a. Sin embargo, ambos progenitores manifiestan la necesidad de disponer de apoyo psicológico formal, y valoran positivamente el apoyo informal de otros/as padres/madres con vivencias similares.ConclusionesLa vivencia de la enfermedad en un/una hijo/a es diferente para madres y padres. Desde los servicios de salud debería prestarse atención al bienestar psicológico de las familias, incorporando los grupos de apoyo entre iguales y las asociaciones de pacientes como activos en salud.AbstractObjectiveTo explore, from a gender perspective, the experiences of mothers and fathers of children with congenital heart disease at the time of diagnosis, including the opinions of medical staff taking care of these children and their families.MethodsQualitative research. Four individual interviews with medical staff and four focus groups with mothers and fathers living in Valencia Region (Spain) were carried out. Participants were selected by purposive sampling. The discourse analysis was triangulated between techniques and researchers and the results were verified with mothers, fathers and medical staff.ResultsMothers and fathers differed in the way they expressed their emotions and in how they accepted the diagnosis of a serious illness in their child. However, both parents expressed the need for psychological support and highly appreciated the informal support from other parents with similar experiences.ConclusionsThe experience of the disease in a child is experienced differently by mothers and fathers. Health servies should pay attention to the psychological well-being of families, by including peer support groups and patient associations, which can play an important role as health assets

Anomalías congénitas: distribución de la prevalencia y factores asociados

Introducción y ObjetivosLas anomalías congénitas se pueden definir como toda anomalía del desarrollo morfológico, estructural, funcional o molecular que ocurre durante el periodo prenatal y puede ser identificada prenatalmente, al nacimiento o posteriormente a lo largo de la vida. Pueden ser causadas por defecto de un único gen, un cromosoma, herencia multifactorial, factores ambientales teratógenos y deficiencias de micronutrientes. Representan un importante problema de salud pública en términos de impacto en la calidad de vida de los niños y adultos afectados y sus familias. Pueden provocar abortos espontáneos y son una de las principales causas de mortalidad perinatal y de mortalidad infantil. Además, con frecuencia producen graves discapacidades físicas y/o mentales, que en la mayoría de los casos afectan al individuo de por vida; y, sus implicaciones personales, familiares, sociales, sanitarias, educacionales y económicas son importantes.Este estudio se ha planteado con la finalidad de contribuir al conocimiento de las anomalías congénitas diagnosticadas, durante el periodo prenatal, al nacimiento o durante el primer año de vida, en la Comunitat Valenciana e identificar los factores asociados a las mismas. El objetivo principal de la línea de investigación de la presente Tesis Doctoral es describir la frecuencia de las anomalías congénitas en la Comunitat Valenciana e identificar factores asociados que puedan explicar la posible variabilidad en su prevalencia. Además, se ha analizado la validez de la principal fuente de información para la identificación de las anomalías congénitas.MetodologíaLa metodología utilizada en esta línea de investigación difiere en función de los objetivos de cada parte de las cuatro que conforman el trabajo. En la primera de ellas se ha estimado la prevalencia de un grupo de anomalías congénitas en la Comunitat Valenciana, utilizando el Conjunto Mínimo Básico de Datos como fuente de información, y se han identificado posibles patrones espaciotemporales, mediante la realización de un estudio epidemiológico observacional transversal.La segunda parte ha consistido en evaluar la validez del Conjunto Mínimo Básico de Datos como fuente de información para identificar anomalías congénitas. Esto se ha realizado mediante un estudio epidemiológico observacional retrospectivo en el que se ha comparado la información procedente del Conjunto Mínimo Básico de Datos con la documentación clínica disponible.En la tercera parte se ha descrito la tendencia y la distribución de un grupo de anomalías congénitas en la Comunitat Valenciana, utilizando como fuente de información el Registro Poblacional de Anomalías Congénitas de la Comunitat Valenciana, a través de un estudio epidemiológico transversal.Por último, en la cuarta parte se ha analizado el riesgo potencial de anomalías congénitas asociado al consumo de medicamentos durante el embarazo. La prescripción y dispensación de medicamentos, en atención ambulatoria, se ha utilizado como indicador del consumo de medicamentos en embarazadas residentes en la Comunitat Valenciana. Para ello se ha realizado un estudio de casos y controles con recogida de información retrospectiva a partir de fuentes secundarias.ConclusionesEl Conjunto Mínimo básico de datos permite identificar y analizar la tendencia temporal, y las variaciones geográficas, de las anomalías congénitas mayores, especialmente en aquellas áreas geográficas donde no se disponen de registros poblacionales. No obstante, es necesaria la utilización de otras fuentes de datos complementarias y la revisión de historias clínicas para mejorar la exhaustividad y la precisión de la información sobre estas anomalías.El disponer de un registro poblacional de Anomalías Congénitas en la Comunitat Valenciana permite conocer la situación real de éstas y desarrollar políticas sanitarias adecuadas para su prevención y control; así como ser la base para la investigación clínica y epidemiológica de estas patologías. Además, posibilita la comparación de resultados con otros estudios europeos, al seguir los procedimientos normalizados de la Red Europea de Registros Poblacionales para la Vigilancia Epidemiológica de Anomalías Congénitas.La monitorización de la prescripción y dispensación de medicamentos durante el embarazo puede ser utilizada como aproximación al consumo de éstos por las mujeres gestantes, haciendo posible la identificación y la vigilancia sistemática de los riesgos farmacológicos.<br /

Using Social Media as a Research Tool for a Bespoke Web-Based Platform for Stakeholders of Children With Congenital Anomalies: Development Study

BACKGROUND: Limited research evidence exists on the development of web-based platforms for reciprocal communication, coproduction research, and dissemination of information among parents, professionals, and researchers. This paper provides learning and the outcomes of setting up a bespoke web-based platform using social media. OBJECTIVE: This study aims to explore the establishment of a web-based, multicontextual research communication platform for parents and stakeholders of children with congenital anomalies using social media and to identify associated research and ethical and technical challenges. METHODS: The ConnectEpeople e-forum was developed using social media platforms with a stakeholder engagement process. A multilevel approach was implemented for reciprocal engagement between parents of children with congenital anomalies, researchers, health care professionals, and other stakeholders using private and invisible and public Facebook groups, closed Twitter groups, and YouTube. Ethical approval was obtained from Ulster University. RESULTS: Nonprofit organizations (N=128) were invited to engage with an initial response rate of 16.4% (21/128). Of the 105 parents contacted, 32 entered the private and invisible Facebook groups to participate in the coproduction research. Public Facebook page followers rose to 215, a total of 22 posts had an engagement of >10%, and 34 posts had a reach of over 100. Webinars included requested information on childhood milestones and behavior. YouTube coverage included 106 ConnectEpeople videos with 28,708 impressions. Project information was obtained from 35 countries. The highest Facebook activity occurred during the early morning hours. Achievement of these results required dedicated time management, social media expertise, creativity, and sharing knowledge to curate valuable content. CONCLUSIONS: Building and maintaining a multilayered online forum for coproduction and information sharing is challenging. Technical considerations include understanding the functionality and versatility of social media metrics. Social media offers valuable, easily accessible, quantitative, and qualitative data that can drive the reciprocal process of forum development. The identification and integration of the needs of the ConnectEpeople e-forum was a key driver in the dissemination of useful, meaningful, and accessible information. The necessary dedicated administration to respond to requests and posts and collate data required significant time and effort. Participant safety, the development of trust, and the maintenance of confidentiality were major ethical considerations. Discussions on social media platforms enabled parents to support each other and their children. Social media platforms are particularly useful in identifying common family needs related to early childhood development. This research approach was challenging but resulted in valuable outputs requiring further application and testing. This may be of particular importance in response to COVID-19 or future pandemics. Incorporating flexible, adaptable social media strategies into research projects is recommended to develop effective platforms for collaborative and impactful research and dissemination

Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, and Spina Bifida Using ConnectEpeople:A Social Media Coproduction Research Study

Background: Using social media for research purposes is novel and challenging in terms of recruitment, participant knowledge about the research process, and ethical issues. This paper provides insight into the recruitment of European parents of children with specific congenital anomalies to engage in coproduction research by using social media. Secret Facebook groups, providing optimal security, were set up for newly recruited research-aware parents (RAPs) to communicate privately and confidentially with each other and for the research team to generate questions and to interpret findings. Objective: This study aimed to use social media for the recruitment and engagement of parents in research and to determine the research priorities of parents who have children with Down syndrome, cleft lip with or without cleft palate, congenital heart defects, and spina bifida. Methods: The design was exploratory and descriptive with 3 phases. Phase 1 included the recruitment of RAPs and generation of research questions important to them; phase 2 was a Web-based survey, designed using Qualtrics software, and phase 3 included analysis and ranking of the top 10 research questions using an adapted James Lind Alliance approach. Simple descriptive statistics were used for analysis, and ethical approval was obtained from the Ethics Filter Committee of the Institute of Nursing and Health Research, Ulster University. Results: The recruitment of 32 RAPs was a sensitive process, varying in the time taken to consent (mean 51 days). However, parents valued the screening approach using the State-Trait Anxiety Inventory as a measure to ensure their well-being (mean 32.5). In phase 1, RAPs generated 98 research questions. In phase 2, 251 respondents accessed the Web-based survey, 248 consented, and 80 completed the survey, giving a completeness rate of 32.3% (80/248). Most parents used social media (74/80, 92%). Social media, online forums, and meeting in person were ranked the most preferable methods for communication with support groups networks and charities. Most respondents stated that they had a good understanding of research reports (71/80, 89%) and statistics (68/80, 85%) and could differentiate among the different types of research methodologies (62/80, 78%). Phase 3 demonstrated consensus among RAPs and survey respondents, with a need to know the facts about their child's condition, future health, and psychosocial and educational outcomes for children with similar issues. Conclusions: Social media is a valuable facilitator in the coproduction of research between parents and researchers. From a theoretical perspective, ocularcentrism can be an applicable frame of reference for understanding how people favor visual contact.This project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement number 733001.info:eu-repo/semantics/publishedVersio

Higher risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury and child abuse in children with congenital anomalies – data from the EUROlinkCAT study

AimThe aim is to examine the risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury/poisoning and child abuse in children with and without a congenital anomaly up to age 5 and 10 years.MethodsThis is a population-based data linkage cohort study linking information from the European Surveillance of Congenital Anomalies network (EUROCAT) and birth registries to hospital discharge databases. We included 91 504 live born children with major congenital anomalies born from 1995 to 2014 from nine EUROCAT registries in five countries and 1 960 727 live born children without congenital anomalies (reference children). Prevalence and relative risk (RR) were estimated for each of the co-morbidities using Kaplan–Meier survival estimates.ResultsChildren with congenital anomalies had higher risks of the co-morbidities than reference children. The prevalences in the reference children were generally very low. The RR was 13.8 (95% CI 12.5–15.1) for cerebral palsy, 2.5 (95% CI 2.4–2.6) for seizures/epilepsy, 40.8 (95% CI 33.2–50.2) for visual impairments, 10.0 (95% CI 9.2–10.9) for hearing loss, 3.6 (95% CI 3.2–4.2) for cancer, 1.5 (95% CI 1.4–1.5) for injuries/poisoning and 2.4 (95% CI 1.7–3.4) for child abuse.ConclusionChildren with congenital anomalies were more likely to be diagnosed with the specified co-morbidities compared to reference children

The burden of disease for children born alive with Turner syndrome—A European cohort study

BACKGROUND: Turner syndrome is a rare congenital anomaly caused by complete or partial X chromosome monosomy that may affect mortality and morbidity in childhood. METHODS: This population-based data-linkage cohort study, as part of the EUROlinkCAT project, investigated mortality and morbidity for the first 5 years of life for liveborn European children diagnosed with Turner syndrome. Thirteen population-based registries in 10 countries from the European surveillance of congenital anomalies (EUROCAT) network participated. Data on children born 1995–2014 and diagnosed with Turner syndrome were linked to mortality, hospital and prescription records. Children with any congenital anomaly and children without a congenital anomaly were included for comparison on morbidity. RESULTS: Out of a population of 5.8 million livebirths 404 were diagnosed with Turner syndrome prenatally or in infancy and 95.5% survived to their fifth birthday. During the first year of life 72.3% (95% CI 59.5;81.6) of children with Turner syndrome were hospitalized, the median length of stay was 5.6 days (95% CI 3.5;7.7) and 18.7% (95% CI 13.9;23.9) underwent surgery. After the first year of life hospitalizations and length of stay decreased but more children underwent surgery (30.8% [95% CI 17.6;44.7]). In the first 5 years the percentage of children with Turner syndrome having a prescription for antibiotics was 12%–20% per year and increased with the age of child. CONCLUSIONS: In the first year of life, the burden of disease was relatively high for children with Turner syndrome. The outlook is more positive beyond the first year, though overall morbidity still exceeded that of children without congenital anomalies