Children and young people's experiences of living with rare diseases: An integrative review

Somanadhan, Suja; O'Donnell, Ryan; Bracken, Shirley; McNulty, Sandra; Sweeney, Alison; O'Toole, Doris; Rogers, Yvonne; Flynn, Caroline; Atif, Awan; Baker, Mona; O‘Neill, Aimee; McAneney, Helen; Gibbs, Lisa; Larkin, Philip; Kroll, Thilo

doi:10.1016/j.pedn.2022.10.014

Cited by 9 publications

(2 citation statements)

References 29 publications

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“…Las y los niñas/os con enfermedades minoritarias se enfrentan a problemas especiales en la escuela y satisfacer sus necesidades supone un reto para el sistema escolar (Jaeger et al, 2022). Se necesita mayor investigación y difusión del conocimiento existente entre el personal sanitario y educativo sobre las consecuencias educativas y cotidianas de estas enfermedades (Somanadhan et al, 2023).…”

Section: Introductionunclassified

Buenas prácticas educativas como motor de cambio en la atención del alumnado con enfermedades minoritarias

Molina Garuz,

Roselló Ramón,

Fernández Hawrylak

et al. 2023

ESXXI

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Inclusive good practices are successful actions or experiences that can be replicated to ensure educational quality for all. However, there is a paucity of data that identify what characteristics these practices should include to support students within an inclusive educational centre. This paper presents the meaning of good inclusive educational practices with special attention to students affected by rare diseases. The aim is to identify and characterise good practices within the framework of an inclusive school. A qualitative methodology is used and, as of different case studies from eight autonomous regions, it is introduced how participants conceptualise in general inclusive practices, and in particular with students with rare diseases. The results highlight the complexity and heterogeneity of the concept of good practices, the involvement of schools by introducing changes in their organisation and functioning, in the supports and in the organisation and methodologies of the classroom. However, these actions need to be extended to the entire educational system, with a profound change in its structure. And further work needs to be done to find out what are the best practices for teacher training based on inclusive education. Las buenas prácticas inclusivas son actuaciones o experiencias exitosas que se pueden replicar para asegurar la calidad educativa para todos. Sin embargo, hay escasez de datos que identifiquen cuáles son las características que realmente deben incluir estas prácticas para apoyar al alumnado dentro de un centro educativo inclusivo. En este trabajo se presenta el significado de buenas prácticas educativas inclusivas con especial atención al alumnado con enfermedades minoritarias. El objetivo es identificar y caracterizar buenas prácticas en el marco de una escuela inclusiva. Se utiliza la metodología cualitativa a partir de distintos estudios de caso de ocho Comunidades Autónomas, para conocer cómo los participantes conceptualizan las prácticas inclusivas en general y, en particular, con el alumnado con enfermedades minoritarias. Los resultados ponen de manifiesto la complejidad y heterogeneidad del concepto de buenas prácticas, la implicación de los centros escolares introduciendo cambios en su organización y funcionamiento, en los apoyos y en la organización y metodologías del aula. Con todo, se necesita que estas acciones se hagan extensivas a todo el conjunto del sistema educativo, modificando profundamente su estructura y seguir tratando de conocer cuáles son las mejores prácticas para la formación docente basada en la educación inclusiva.

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Section: Introductionunclassified

Buenas prácticas educativas como motor de cambio en la atención del alumnado con enfermedades minoritarias

Molina Garuz,

Roselló Ramón,

Fernández Hawrylak

et al. 2023

ESXXI

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“…Eighty percent of rare diseases have a genetic component and therefore treatment is often limited or costly, and 95% of rare diseases lack an approved treatment (Somanadhan et al, 2023b). This brings challenges regarding funding for research and development and treatment accessibility, as orphan drugs, which are developed specifically for rare diseases, can cost up to five times more than non-orphan drugs (Chambers et al, 2020).…”

Section: Amendments From Version 1 Introductionmentioning

confidence: 99%

The economic impact of living with a rare disease for children and their families: a scoping review protocol

Buckle,

Doyle,

Kodate

et al. 2023

HRB Open Res

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Background: Rare diseases are an often chronic, progressive and life-limiting group of conditions affecting more than 30 million people in Europe. These diseases are associated with significant direct and indirect costs to a spectrum of stakeholders, ranging from individuals and their families to society overall. Further quantitative research on the economic cost for children and their families living with a rare disease is required as there is little known on this topic. This scoping review aims to document the extent and type of evidence on the economic impacts of living with a rare disease for children and their families. Methods: This scoping review will follow the PRISMA-ScR and Joanna Briggs Institute guidelines and follow the six-stage methodology for scoping reviews: (1) identifying the research question, (2) identifying relevant studies, (3) study selection, (4) charting the data, (5) collating, summarising and reporting results and (6) knowledge user consultation. Key inclusion criteria have been developed according to the Population-Concept-Context (PCC) framework. The databases EconLit, ABI/Inform, MEDLINE, PubMed, CINAHL, and Scopus will be searched for possible articles for inclusion. Two independent reviewers will screen titles and abstracts of potential articles using a dual review process to ensure all relevant studies are included. All included articles will be assessed using a validated quality appraisal tool. A panel of patient and public involvement representatives experiencing rare diseases and knowledge users will validate the review results. Conclusions: This scoping review will map the current literature on the economic impact of paediatric rare diseases to understand how these impacts affect children living with rare diseases and their families. This evidence has the potential to influence policy and future research in this area and will support the future development of a cost-minimal intervention prototype to address the economic impact for families as part of this doctoral project.

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The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

Pavisich,

Jones,

Baynam

2024

Rare

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Children and young people's experiences of living with rare diseases: An integrative review

Cited by 9 publications

References 29 publications

Buenas prácticas educativas como motor de cambio en la atención del alumnado con enfermedades minoritarias

Buenas prácticas educativas como motor de cambio en la atención del alumnado con enfermedades minoritarias

The economic impact of living with a rare disease for children and their families: a scoping review protocol

The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

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