Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Cismondi, Inés Adriana; Kohan, Romina; Adams, Heather; Bond, Mike; Brown, Ruth Nicole; Cooper, Jonathan D.; Hidalgo, Perla K. de; Holthaus, Sophia Martha Kleine; Mole, Sara; Mugnaini, Julia; Ramírez, Ana María Oller; Pesaola, Favio; Rautenberg, Gisela Evelín; Platt, Frances M.; Halac, Inés Noher de

doi:10.1016/j.bbadis.2015.06.018

Cited by 15 publications

(18 citation statements)

References 19 publications

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“…The study by Cismondi et al (2015) that set out to develop guidelines for improving scientific knowledge about RDs found a situation similar to that shown by this study. When the database in the medical field pub MED was analysed for the period 2005 to 2014 it showed that 12,646 papers on RDs had been published, but when the term medical education was specified the number fell to 377.…”

Section: Resultssupporting

confidence: 83%

“…Some were related to the training of medical and healthcare staff in the field of RDs (Jinnah, 2011;Van Karnebeek et al, 2012). Others had to do with university studies and knowledge, as in the case -for example -of the paper by Cismondi et al (2015), which addressed the educational issues associated with particular rare diseases in the curricula of Health Sciences and Professional Training Programs. Many others presented a study related to a particular RD, for example that by Chisolm et al (2014) or that by Smith et al (2014).…”

Section: Resultsmentioning

confidence: 99%

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A systematic review of research into rare diseases in the educational sphere

Darretxe¹,

Gaintza²,

Monzon-Gonzalez³

2017

Educ. Res. Rev.

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Rare diseases (RDs) represent a wide, varied group of illnesses characterised by their low prevalence among the population. Moreover, they can appear at any time of life, including in infancy. For this reason, the aim of this article was to review and analyse research in the field of education to find out what kind of educational response is offered by schools to pupils with RDs. The following databases were used to find the pertinent bibliography: Web of Science, Scopus, Education Database (Proquest) and Eric. After retrieving the publications included in this study, each paper was reviewed and analysed on the basis of what journal they were published in and their abstracts. Out of the 53 studies included, only six bore any relation to the school context. The results showed that while there are scientific papers on RDs, most of them are restricted to the medical sphere. It was therefore concluded that further research is needed in the field of education to advance in the schooling of pupils with RDs.

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Section: Resultssupporting

confidence: 83%

Section: Resultsmentioning

confidence: 99%

A systematic review of research into rare diseases in the educational sphere

Darretxe¹,

Gaintza²,

Monzon-Gonzalez³

2017

Educ. Res. Rev.

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“…As Cismondi et al rightly observe, “the academic sector lacks initiatives to improve the knowledge of health professionals on complex topics such as RDs” [ 44 ]. The results of this study seem to have largely confirmed the previous findings [ 45 – 47 ] and suggest that healthcare professionals’ in Poland possess insufficient knowledge on RDs and are unprepared to care for RD patients.…”

Section: Discussionmentioning

confidence: 99%

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Walkowiak

Domaradzki

2021

Orphanet J Rare Dis

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Background During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the diagnosis or treatment of a rare disease (RD) at some point in their professional lives, many assume that they might never meet a patient with a specific RD. Moreover, many physicians lack knowledge about RDs and are not prepared for caring for RD patients. Thus, the aim of this paper was to assess the awareness of RDs among Polish physicians. Methods The study was conducted among 165 medical doctors taking their specialization courses at the Poznan University of Medical Sciences, Poland. The questionnaire assessed physicians’ knowledge about the number, examples, etiology and estimated frequency of RDs. It also checked the self-assessment of physicians competence in RDs, as well as their opinions about university curricula in this respect. Results The study shows that while most physicians lacked basic knowledge about the etiology, epidemiology and prevalence of RDs, many had also problems with separating RDs from more common disorders. Moreover, 94.6% of physicians perceived their knowledge on RDs as insufficient or very poor and less than 5% feel prepared for caring for patients with RDs. Simultaneously, while over 83% of physicians believed that RDs constitute a serious public health issue, 17% were of the opinion that mandatory courses on RDs are not necessary in medical curricula and 6.7% were not interested in broadening their knowledge of such diseases. Most respondents derived their knowledge on RDs from university courses, scientific literature and research, as well as from the Internet. Conclusion Since the study shows that there is a urgent need to fill the gap in physicians’ knowledge on RDs, it seems advisable that extra courses on these diseases should be added to medical curricula and physicians’ postgraduate training. Furthermore, as the Internet is the main source of information on RDs, e-learning programs and courses for all medical professionals should be organized.

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“…Thus, our findings confirm that nursing curricula contains an insufficient amount of information about rare diseases. Such a suggestion was formulated earlier [20,51], but our research is extended beyond future physicians. What is important is that is shows that there is, on the one hand, the need to expand knowledge, on the otherhigh acceptance of such a solution among the respondents.…”

Section: Discussionmentioning

confidence: 99%

Needs assessment study of rare diseases education for nurses and nursing students in Poland

Walkowiak

Domaradzki

2020

Orphanet J Rare Dis

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Background: The treatment of rare diseases in contemporary health systems appears to be steadily gaining in importance, especially as the number of their occurrence is increasing. However, the education of medical staff in their correct diagnosis and therapy seems inadequate. Our study aims to analyze the knowledge and opinions concerning rare diseases among Polish nurses and nursing students. Methods: We analyzed a group of 142 nurses and 113 nursing students, using a questionnaire comprising 28 questions about the number, examples, etiology and estimated frequency of rare diseases. Self-assessment of one's own theoretical and practical competence in the topic, as well as the opinion of the respondents on the need for a more prominent place of rare diseases in the curricula of medical universities, were also tested. We also asked about our informants' sources of information on rare diseases. The study was conducted between January and June 2019. Results: Although only approximately 1. 3 rd of respondents declared having participated in university classes in rare diseases, a markedly higher number (~85% of nurses and~75% of students) sees the need for such courses. Neither group feels well-prepared to deal with patients with rare diseases, with 75% of nurses and as many as 85% of nursing students expressing their concern in this respect. Both groups name the Internet as their major source of information. Conclusion: Both nurses and nursing students show insufficient knowledge of rare diseases, though the level of competence of the former is in many respects higher in a statistically significant way. Most respondents perceive serious deficiencies in their preparation to care for such patients. A change in university curricula seems much called for.

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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder

Cited by 15 publications

References 19 publications

A systematic review of research into rare diseases in the educational sphere

A systematic review of research into rare diseases in the educational sphere

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study

Needs assessment study of rare diseases education for nurses and nursing students in Poland

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