Necesidades de formación en enfermedades raras para atención primaria

Fernández, Alfredo Avellaneda; Martínez, Maravillas Izquierdo; Gómez, Santiago Luengo; Martín, Javier Arenas; Ramón., José

doi:10.1157/13093372

Cited by 17 publications

(7 citation statements)

References 2 publications

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“…Fernández Avellaneda et al . (2006), investigated the need for rare disease training in primary care [ 48 ]. Difficulties arose in understanding the importance and magnitude of rare diseases, supporting the findings of the current study that further training is required.…”

Section: Discussionmentioning

confidence: 99%

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

McMullan¹,

Crowe²,

Bailie³

et al. 2020

Orphanet J Rare Dis

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Background Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018–2019 using an online survey and semi-structured interviews with rare disease collaborative groups (charities, voluntary and community groups) active across Northern Ireland (NI). Methods This study had 2 stages. Stage 1 was an online survey and stage 2 involved semi-structured interviews both with rare disease collaborative groups in Northern Ireland. The surveys and interviews were used to locate existing resources as well as identify gaps where the development of further resources would be appropriate. Results Ninety-nine rare disease collaborative groups engaged with the survey with 31 providing detailed answers. Resources such as information, communication, ‘registries’, online services, training and improvements to support services were queried. Excellent communication is an important factor in delivering good rare disease support. Training for health professionals was also highlighted as an essential element of improving support for those with a rare disease to ensure they approach people with these unique and challenging diseases in an appropriate way. Carers were mentioned several times throughout the study; it is often felt they are overlooked in rare disease research and more support should be in place for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine semi-structured interviews were conducted with rare disease collaborative groups. Reoccurring themes included a need for more effective information and communication, training for health professionals, online presence, support for carers, and involvement in research. Conclusions All rare disease collaborative groups agreed that current services for people living and working with a rare disease are not adequate. An important finding to consider in future research within the rare disease field is the inclusion of carers perceptions and experiences in studies. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs, and suggests approaches to improve rare disease support.

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Section: Discussionmentioning

confidence: 99%

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

McMullan¹,

Crowe²,

Bailie³

et al. 2020

Orphanet J Rare Dis

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“…Por un lado, los pediatras encargados de proporcionar información pueden sentirse inseguros a la hora de afrontar los problemas cotidianos de estos pacientes, lo que sin duda dificulta que puedan proporcionar buena información a los padres. De nuevo se pone de manifiesto la importancia de proporcionar vías específicas de formación a los médicos de familia y pediatras de Atención Primaria para potenciar la labor que realizan en la atención a las personas con enfermedades raras y proporcionar información a los afectados [53][54][55] . Al mismo tiempo, es frecuente que las familias realicen un importante esfuerzo para adquirir información sobre la enfermedad de sus hijos por diferentes medios, destacando el uso cada vez mayor de Internet 56 o la integración en asociaciones de afectados que también contribuyen a informar sobre el estado actual del conocimiento médico sobre esa enfermedad.…”

Section: Informaciónunclassified

Necesidades en las enfermedades raras durante la edad pediátrica

Gaite

Fuentes

Lamuño

et al. 2008

Anales Sis San Navarra

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“…However, little is known about the magnitude of the rare disease patient population and the care they receive in general practice. A PubMed search (January 2017) resulted in six original research articles on rare diseases in the general practice population (see Figure S1 ) [ 7 , 8 , 9 , 10 , 11 , 12 ]. Browsing the citations resulted in one additional Dutch study [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

General Practice Care for Patients with Rare Diseases in Belgium. A Cross-Sectional Survey

Boffin

Swinnen

Wens

et al. 2018

IJERPH

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There are almost no studies about rare diseases in general practice. This study examined care characteristics of active rare disease patients in the Belgian Network of Sentinel General Practices (SGP) and the importance of rare diseases in general practice by its caseload, general practitioner (GP)–patient encounter frequency and nationwide prevalence. The SGP reported data about: (i) the number of active rare disease patients in 2015; and (ii) characteristics of one to three most recently seen patients. Rare diseases were matched against Orphanet (). GP encounter frequency and patients’ age were compared to the total general practice population. Details from 121 active patients (median age: 44, interquartile range (IQR) 24–60) showed that for 36.9% the GP had been the first caregiver for the rare disease and for 35.8% the GP established a diagnostic referral. GPs rated their knowledge about their patients’ disease as moderate and used Orphanet for 14.9% of patients. Any active rare disease patients (median: 1, IQR 0–2) were reported by 66 of 111 SGP. Compared to the total general practice population, the mean GP encounter frequency was higher (7.3; 95% confidence intervals (CI) 6.1–8.5 versus 5.4; 95% CI 5.4–5.4). The prevalence of rare diseases in the Belgian general practice population was estimated at 12.0 (95% CI 10.3–13.9) per 10,000. This study acknowledges the important role of GPs in rare disease care. Knowledge and use of Orphanet by GPs could be improved.

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Necesidades de formación en enfermedades raras para atención primaria

Cited by 17 publications

References 2 publications

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate

Necesidades en las enfermedades raras durante la edad pediátrica

General Practice Care for Patients with Rare Diseases in Belgium. A Cross-Sectional Survey

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