| Title: | Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome : methodological rigor versus clinical usability |
|---|
| Authors: | ID Gaasterland, Charlotte M.W. (Author)
ID Klein Haneveld, Mirthe J. (Author)
ID Tinselboer, Barber M. (Author)
ID Zarate, Yuri A. (Author)
ID Osredkar, Damjan (Author)
ID van Eeghen, Agnies M. (Author)
ID Stariha, Erika (Author) |
|---|
| Files: |  PDF - Presentation file, download (707,73 KB)
MD5: 4989845206032EDC5C3A10CFEED0FFC4
 URL - Source URL, visit https://www.sciencedirect.com/science/article/pii/S0895435626000624
|
|---|
| Language: | English |
|---|
| Typology: | 1.01 - Original Scientific Article |
|---|
| Organization: |  UKC LJ - Ljubljana University Medical Centre
|
|---|
| Abstract: | Objective SATB2-associated syndrome (SAS) is a rare genetic condition characterized by developmental delay and typical features. Currently, an evidence-based Clinical Practice Guideline (CPG) is being developed by European Reference Network ITHACA in close collaboration with the patient community. To ensure that the guideline addresses the most pressing concerns of affected individuals, families and clinicians, while remaining feasible to produce, a prioritization process was carried out. Study design and setting The prioritization process aimed to minimize the relevant clinical questions to a maximum of 12, based on criteria that were defined beforehand and based on input from a large patient community. The prioritization process included a SAS community-wide survey that collected all patient-relevant topics, a prioritization round using a tool that helps to calculate the items that were most voted on, and a final consensus round with the guideline core group. Results In the first round, a total of 376 topics was collected based on input from over 20 families. These were combined and refined into 48 clinical topics. A total of 269 valid responders filled in their prioritization on these topics in an online survey. Of these respondents, 234 identified as representative/family/carer, 30 identified as clinician, and 5 individuals identified as both. Rather than prioritizing a subset of 12 topics, that each would be answered with a systematic review, the core group decided on a final set of 22 questions and only one systematic review. Conclusion Despite using a rigorous, community-driven process with input from many parents, carers, and global clinical experts, the guideline core group could not agree on a final set of 12 clinical topics. The group concluded that completeness and clinical usability of the guideline should take precedence over adhering to 12 prioritized clinical topics that could each be answered with a systematic search in the literature. We concluded that completeness and usability, versus methodological rigor, are competing interests in CPG development. This methodological issue is a pressing matter in the field of rare disease CPG development, and possibly also beyond the context of rare diseases, for which no clear solution currently exists. |
|---|
| Keywords: | clinical practice guidelines, rare diseases, prioritization, guideline methodology, systematic reviews, European reference network |
|---|
| Publication status: | Published |
|---|
| Publication version: | Version of Record |
|---|
| Year of publishing: | 2026 |
|---|
| Number of pages: | str. 1-10 |
|---|
| Numbering: | Vol. 193, [article no.] 112187 |
|---|
| PID: | 20.500.12556/DiRROS-28441  |
|---|
| UDC: | 616 |
|---|
| ISSN on article: | 1878-5921 |
|---|
| DOI: | 10.1016/j.jclinepi.2026.112187 |
|---|
| COBISS.SI-ID: | 269270019 |
|---|
| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 23. 2. 2026;
|
|---|
| Publication date in DiRROS: | 19.03.2026 |
|---|
| Views: | 231 |
|---|
| Downloads: | 107 |
|---|
| Metadata: |    |
|---|
|
:
|
Copy citation |
|---|
| | | | Share: |  |
|---|
Hover the mouse pointer over a document title to show the abstract or click
on the title to get all document metadata. |
