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Abstract
Background: the complexities of rare congenital disorders often require life-long, highly specialized and co-ordinated care involving multiple disciplines – and many research questions arise. The amount of studies in rare disorders is still limited to very few papers within subtopics, and studies frequently suffer from high risk of bias. There is also a lack of clinical guidelines. Within many rare disorders, systematic reviews that include grading of the evidence are far ahead. Recently, the PRISMA-ScR guidelines were published, describing the conduct of scoping reviews (ScR) to map evidence on a topic and to identify main concepts, theories, sources, and knowledge gaps. Is this a feasible 'first-step' method for gaining overview of studies on rare congenital disorders?
Objectives: to present results and to discuss our experiences with conducting two ScRs.
Methods: we followed the PRISMA-ScR. Inclusion criteria for both reviews were: a verified diagnosis; participants’ age; systematic reviews, qualitative and quantitative primary studies with six or more diagnosed participants; English and Scandinavian languages. Excluded were studies on genetics, anatomy, pathophysiology, diagnostics (ScR-1) and treatment (ScR-1).
- ScR-1: Current knowledge of medical complications in adults with achondroplasia: a scoping review (search: January 2019); included: two reviews and 27 primary studies.
- ScR-2: Pediatric patients with Marfan syndrome: a scoping review (search: October 2018); included: 73 primary studies.
Both ScRs presented results with reference, aim, nationality, study design/methods, material, and the primary authors’ conclusions. We also elucidated some methodological challenges, although we did not assess risk of bias or perform GRADE procedures.
Results: included studies in ScRs covered nine and six topics respectively. Neurology and orthopaedic issues were most frequent in ScR-1, while cardiovascular issues were most common in ScR-2. We found few studies on natural history, degree and extent of clinical manifestations in both adults with achondroplasia and in paediatric Marfan patients, including few studies on psychosocial issues in Marfan. Excluded papers were mainly due to study population’s age (or not possible to separate data between adults/paediatric patients), design, or the study’s aim was not within the scope of the review.
Conclusions: the scoping review methodology is an excellent way of mapping and surveilling research areas with relatively low frequency of publications, such as within the fields of rare congenital disorders. Identifying main concepts, theories, knowledge sources, and gaps to set future research agendas are important. Broad research questions are applicable and we thus avoid empty reviews. ScRs may also serve as precursors for subsequent systematic reviews.
Patient or healthcare consumer involvement: The Norwegian Association of Short People; The Norwegian Association of Marfan syndrome.
Objectives: to present results and to discuss our experiences with conducting two ScRs.
Methods: we followed the PRISMA-ScR. Inclusion criteria for both reviews were: a verified diagnosis; participants’ age; systematic reviews, qualitative and quantitative primary studies with six or more diagnosed participants; English and Scandinavian languages. Excluded were studies on genetics, anatomy, pathophysiology, diagnostics (ScR-1) and treatment (ScR-1).
- ScR-1: Current knowledge of medical complications in adults with achondroplasia: a scoping review (search: January 2019); included: two reviews and 27 primary studies.
- ScR-2: Pediatric patients with Marfan syndrome: a scoping review (search: October 2018); included: 73 primary studies.
Both ScRs presented results with reference, aim, nationality, study design/methods, material, and the primary authors’ conclusions. We also elucidated some methodological challenges, although we did not assess risk of bias or perform GRADE procedures.
Results: included studies in ScRs covered nine and six topics respectively. Neurology and orthopaedic issues were most frequent in ScR-1, while cardiovascular issues were most common in ScR-2. We found few studies on natural history, degree and extent of clinical manifestations in both adults with achondroplasia and in paediatric Marfan patients, including few studies on psychosocial issues in Marfan. Excluded papers were mainly due to study population’s age (or not possible to separate data between adults/paediatric patients), design, or the study’s aim was not within the scope of the review.
Conclusions: the scoping review methodology is an excellent way of mapping and surveilling research areas with relatively low frequency of publications, such as within the fields of rare congenital disorders. Identifying main concepts, theories, knowledge sources, and gaps to set future research agendas are important. Broad research questions are applicable and we thus avoid empty reviews. ScRs may also serve as precursors for subsequent systematic reviews.
Patient or healthcare consumer involvement: The Norwegian Association of Short People; The Norwegian Association of Marfan syndrome.
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