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Objective: The development of clinical practice guidelines (CPG) has evolved into a rigorous and complex process. There is a need for training of CPG developers including methodologists, panel members and patient representatives. This study explored the educational needs and experiences of CPG developers, with specific attention to the patient perspective and economic considerations., Study Design and Setting: An anonymised mixed-method survey was distributed among CPG developers and panel members in the Netherlands. The survey, developed in collaboration with Dutch CPG development organisations and patient organisations, aimed to capture insights into the developers' roles, training needs, and the incorporation of economic considerations and patient perspectives in CPG development. Data analysis involved qualitative content analysis and descriptive quantitative analysis., Results: A total of 271 responses were analysed. Respondents described role-specific tasks and tasks overlapping between roles. Experience, guidance, and training influenced the respondents' feeling of preparedness for their tasks. Respondents expressed the need for content-related training, including CPG development methodology. They also raised the importance of process-related topics in training, such as the inclusion of different perspectives and responsibilities during CPG development. About half of the respondents (46%) indicated that economic considerations were included in their CPGs, however, there was no uniformity in approach. The patient perspective was included by 89% of the respondents, also in varying manners. Overall, respondents underscored the importance of both topics in CPG development (training) to ensure a future-proof healthcare system., Conclusion: This study underscores the importance of tailored CPG development training programmes addressing the specific competencies required for the different roles in CPG development. Thereby, recognising a holistic approach encompassing both content- and process-related aspects. Addressing economic considerations and the patient perspective in training will contribute to CPGs that support a patient-centred and sustainable healthcare system., (© 2024 The Author(s). Journal of Evaluation in Clinical Practice published by John Wiley & Sons Ltd.)

The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity. Framework characteristics were summarised and information pertaining to their content, structure and practical use was extracted. Twelve relevant frameworks were identified, presenting practical approaches, conceptual understandings or both. Five frameworks focused on areas aligned with specific core ERN activities; others had an overarching scope. Frameworks presented various engagement approaches and employed heterogeneous terminology and development methods. Frameworks differed in their content and structure and presented key considerations for use. Our review underscores the importance of providing clear definitions and explanations of patient partnership. It provides insight into how meaningful, and inclusive patient partnership can be promoted within our diverse ERN context and sheds light on the importance of framework implementation as a prerequisite to structured evaluation. Learning points generated from this review will be used to inform future updates of the ERN Patient Partnership Framework and promote its implementation in practice., Competing Interests: Declarations. Human subjects statement: This article does not contain any studies with human or animal subjects performed by the any of the authors. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Purpose: Rare genetic neurodevelopmental disorders associated with intellectual disability require lifelong multidisciplinary care. Clinical practice guidelines may support healthcare professionals in their daily practice, but guideline development for rare conditions can be challenging. In this systematic review, the characteristics and methodological quality of internationally published recommendations for this population are described to provide an overview of current guidelines and inform future efforts of European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism, and Congenital Anomalies)., Methods: MEDLINE, Embase, and Orphanet were systematically searched to identify guidelines for conditions classified as "rare genetic intellectual disability" (ORPHA:183757). Methodological quality was assessed using the Appraisal of Guidelines, Research, and Evaluation II tool., Results: Seventy internationally published guidelines, addressing the diagnosis and/or management of 28 conditions, were included. The methodological rigor of development was highly variable with limited reporting of literature searches and consensus methods. Stakeholder involvement and editorial independence varied as well. Implementation was rarely addressed., Conclusion: Comprehensive, high-quality guidelines are lacking for many rare genetic neurodevelopmental disorders. Use and transparent reporting of sound development methodologies, active involvement of affected individuals and families, robust conflict of interest procedures, and attention to implementation are vital for enhancing the impact of clinical practice recommendations., Competing Interests: Conflict of Interest Agnies M. van Eeghen is a collaborator to the 2021 TSC guidelines as part of the International Tuberous Sclerosis Complex Consensus Group; she did not participate in the critical appraisal of this document or any other document included in this review. All other authors declare no conflicts of interest. A listing detailing the names of organizations and institutions from whom authors have received compensation for professional services in any of the previous 3 years, or from whom they anticipate receiving such compensation in the near future, whether or not these affiliations appear to have any relevance to the topic covered in the submission, is provided below for each author: Mirthe J. Klein Haneveld Amsterdam UMC, University of Amsterdam, Emma Children’s Hospital, funded by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA; Stichting Zorg en Participatie [day and weekend respite care for children with special needs]. Iméze J. Hieltjes Knowledge Institute of the Dutch Federation of Medical Specialists; GGD Twente. Miranda W. Langendam Amsterdam UMC, University of Amsterdam, Department of Epidemiology and Data Science, Amsterdam; European Commission (consultant contract for developing a methodological framework for the European Commission Initiative Colorectal Cancer). Martina C. Cornel Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands. Charlotte M. W. Gaasterland Knowledge Institute of the Dutch Federation of Medical Specialists; Amsterdam UMC, University of Amsterdam, Emma Children’s Hospital, funded by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA. Agnies M. van Eeghen Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands; Advisium, ’s Heeren Loo, Amersfoort, The Netherlands; consulting fees from Jazz Pharmaceuticals and Shionogi. Ethics Declaration This article does not involve human or animal subjects., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Context: Nonfunctioning pancreatic neuroendocrine tumors (NF-pNETs) are highly prevalent and constitute an important cause of mortality in patients with multiple endocrine neoplasia type 1 (MEN1). Still, the optimal age to initiate screening for pNETs is under debate., Objective: The aim of this work is to assess the age of occurrence of clinically relevant NF-pNETs in young MEN1 patients., Methods: Pancreatic imaging data of MEN1 patients were retrieved from the DutchMEN Study Group database. Interval-censored survival methods were used to describe age-related penetrance, compare survival curves, and develop a parametric model for estimating the risk of having clinically relevant NF-pNET at various ages. The primary objective was to assess age at occurrence of clinically relevant NF-pNET (size ≥ 20 mm or rapid growth); secondary objectives were the age at occurrence of NF-pNET of any size and pNET-associated metastasized disease., Results: Five of 350 patients developed clinically relevant NF-pNETs before age 18 years, 2 of whom subsequently developed lymph node metastases. No differences in clinically relevant NF-pNET-free survival were found for sex, time frame, and type of MEN1 diagnosis or genotype. The estimated ages (median, 95% CI) at a 1%, 2.5%, and 5% risk of having developed a clinically relevant tumor are 9.5 (6.5-12.7), 13.5 (10.2-16.9), and 17.8 years (14.3-21.4), respectively., Conclusion: Analyses from this population-based cohort indicate that start of surveillance for NF-pNETs with pancreatic imaging at age 13 to 14 years is justified. The psychological and medical burden of screening at a young age should be considered., (© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.)

Objectives: The aims were to gain insight into the care provided to patients with APS in The Netherlands and to identify areas for improvement from the perspective of both patients and medical specialists., Methods: APS care was evaluated using qualitative and quantitative methods. Perspectives on APS care were explored using semi-structured interviews with medical specialists, patient focus groups and a cross-sectional, online patient survey. In order to assess current practice, medical records were reviewed retrospectively to collect data on clinical and laboratory manifestations and pharmacological treatment in six Dutch hospitals., Results: Fourteen medical specialists were interviewed, 14 patients participated in the focus groups and 79 patients completed the survey. Medical records of 237 patients were reviewed. Medical record review showed that only one-third of patients were diagnosed with APS within 3 months after entering specialist care. The diagnostic approach and management varied between centres and specialists. Almost 10% of all patients and 7% of triple-positive patients with thrombotic APS were not receiving any anticoagulant treatment at the time of medical record review. Correspondingly, poor recognition and fragmentation of care were reported as the main problems by medical specialists. Additionally, patients reported the lack of accessible, reliable patient education, psychosocial support and trust in physicians as important points for improvement., Conclusion: Delayed diagnosis, variability in management strategies and fragmentation of care were important limitations of APS care identified in this study. A remarkable 10% of patients did not receive any anticoagulant treatment., (© The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Rheumatology.)

Background: HIV-associated cardiovascular disease (CVD) risk in combination antiretroviral therapy (cART)-treated perinatally HIV-infected patients (PHIV+) remains unknown due to the young age of this population. Lipoprotein(a) (Lp(a)) has been established as an independent causal risk factor for CVD in the general population but has not been well established in the population of PHIV+., Methods: We cross-sectionally compared lipid profiles, including nonfasting Lp(a), together with total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides between 35 cART-treated PHIV+ children aged 8-18 years and 37 controls who were matched for age, sex, ethnicity, and socioeconomic status. We explored associations between Lp(a) and disease- and treatment-related factors (inflammation, monocyte activation, and vascular), biomarkers, and neuroimaging outcomes using linear regression models., Results: PHIV+ children had significantly higher levels of Lp(a) compared with controls (median, 43.6 [21.6-82.4] vs 21.8 [16.8-46.6] mg/dL; P = .033). Other lipid levels were comparable between groups. Additional assessment of apolipoprotein B, apolipoprotein CIII, apolipoprotein E, and APOE genotype revealed no significant differences. Higher Lp(a) levels were associated with higher plasma apoB levels and with lower monocyte chemoattractant protein-1 and TG levels in PHIV+ children. Lp(a) was not associated with HIV- or cART-related variables or with neuroimaging outcomes., Conclusions: cART-treated PHIV+ children appear to have higher levels of Lp(a) compared with ethnicity-matched controls, which may implicate higher CVD risk in this population. Future research should focus on the association between Lp(a) and (sub)clinical CVD measurements in cART-treated PHIV+ patients., Dutch Trial Register Number: NRT4074., (© The Author(s) 2019. Published by Oxford University Press on behalf of Infectious Diseases Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)