Disease-specific Measures Research Articles

Physical activity and motivational readiness for physical activity behavior change in adults with non-communicable diseases in Germany: a trend analysis of two cross-sectional health surveys from the German GEDA study 2014/2015 and 2019/2020

BackgroundPhysical activity (PA) is a cornerstone in maintaining a healthy lifestyle as well as in the prevention and rehabilitation of non-communicable diseases (NCD). First analysis of PA showed lower activity rates in adults with NCD compared to the general population. To improve health monitoring and to address World Health Organization (WHO) recommendations to systematically identify and track efforts to reduce inequalities in PA participation, trend analysis of PA in adults with NCD was performed for the period 2014/15 to 2019/20 for Germany. Furthermore, motivational readiness for PA behavior change was analysed based on the transtheoretical model (TTM).MethodsBased on two population-based cross-sectional health surveys (GEDA 2014/15-EHIS and GEDA 2019/20-EHIS) for Germany (N = 46,724), the prevalence of meeting WHO PA guidelines was analysed for adults with certain NCD compared to the general population. PA was assessed by self-report via the European Health Interview Survey– Physical Activity Questionnaire (EHIS-PAQ). Trend analyses and logistic regression models were performed to calculate disease specific Odds Ratios (OR) for fulfilment of PA recommendations. Motivational readiness for PA was assessed with the stages of change according to the TTM with data of GEDA 2014/15-EHIS.ResultsReporting any NCD is associated with lower fulfilment of health-enhancing aerobic PA in both surveys for almost all NCD, with lowest levels among adults reporting stroke, type 2 diabetes mellitus, chronic obstructive pulmonary disease, obesity and coronary heart disease. Sufficient muscle-strengthening was higher in adults with musculoskeletal diseases like osteoarthritis, lower back pain and neck pain compared to adults without these diseases. The prevalence of meeting WHO PA recommendations among adults with NCD remains at a low level. Sufficient health-enhancing aerobic PA tend to decrease in adults with NCD from 2014/15 to 2019/20, while sufficient muscle-strengthening increased in the same period. Motivational readiness for PA is lower for most adults with NCD, compared to the general adult population.ConclusionLower rates of WHO PA recommendation fulfilment is recognized for most NCD groups compared to the population without NCD for both surveys, but the proportion of adults with NCD who meet the WHO PA recommendations differ widely between NCD groups. A positive trend from 2014/15 to 2019/20 can only be seen for adults with osteoarthritis. Based on our findings the implementation of PA promotion particular with regards to motivational readiness and disease specific PA measures is strongly recommended to improve prevention and ambulatory health care for adults with NCD.

P0946 Switching from intravenous to subcutaneous Infliximab in patients with immune mediated diseases in clinical remission

Abstract Background We aimed to report on the efficacy and safety of elective switching from intravenously (IV) to subcutaneously (SC) administered Infliximab (IFX) in patients with immune mediated diseases. Methods This was a multicenter retrospective study in which we analyzed data collected from consecutive patients with immune mediated diseases treated in a hospital setting. Each hospital department was considered a study center and overall, 8 gastroenterology departments, 6 rheumatology departments and 1 dermatology department from 13 Greek hospitals, that are all referral centers, recruited patients for the study. Patients with Crohn’s disease (CD), Ulcerative Colitis (UC), Spondyloarthritis (SpA), Rheumatoid Arthritis (RA), Psoriatic Arthritis (PsA) and chronic plaque Psoriasis (PsO) who were receiving IFX-IV for maintenance of remission and were switched to IFX-SC based on their physician’s choice were included. All patients with gastrointestinal and skin diseases were in clinical remission, while those with musculoskeletal disease had inactive disease or low disease activity. The primary endpoint was disease deterioration during the follow up period, according to disease specific composite measures. Results Between April 2023 and April 2024, a total of 344 patients (CD=136, UC=62, SpA=52, PsA=38, RA=7, PsO=44, co-existence of more than one disease=5) were switched from IFX-IV to IFX-SC. The mean duration of treatment with IFX before switching was a mean (SD) 53.7 (36.2) months. Eleven patients (3.2%) were receiving combination treatment with an immunomodulator and 2 patients (0.6%) were using oral or iv steroids at the time of switch. After a mean (SD) follow up period of 8 (4) months, 12 patients (3.5%) discontinued treatment with IFX-SC. Five of them (1.5%) because of disease worsening and the remaining 7 (2.0%) because of the occurrence of side effects. All other 332 patients (96.5%) showed favorable response, none of them requested an unscheduled visit, or developed an adverse event (clinical or laboratory) or needed escalation of treatment. Conclusion Elective switching from IFX-IV to IFX-SC seems to be an effective and safe approach in real-world every day clinical practice to maintain long-term clinical remission, inactive disease or low disease activity in patients with immune-mediated diseases.

P0240 Cross-cultural adaptation and validation of the Crohn’s Anal Fistula – Quality of Life scale in Dutch patients with active perianal fistulizing Crohn’s disease

Abstract Background Perianal fistulizing Crohn’s disease (pCD) is associated with debilitating symptoms such as fecal incontinence and perianal pain, and can significantly impact a patient’s quality of life (QoL)1. The Crohn’s Anal Fistula Quality of Life (CAF-QoL) scale has recently been developed as the first disease-specific patient-reported outcome measure for patients with pCD2, but has yet to be validated in an independent cohort. Therefore, we aimed to adapt and validate the CAF-QoL scale in a Dutch cohort of patients with active pCD. Methods Patients with active pCD were retrieved from a prospective multicenter study performed in 41 Dutch (non-)academic hospitals between September 2022 and March 2023. Respondents of the CAF-QoL scale and other health-related QoL questionnaires (sIBDQ and EQ-5D-5L3,4) at baseline were included. After translation of the CAF-QoL scale to Dutch, patient representatives verified the questionnaire’s comprehensibility. Prospective validation comprised the assessment of construct validity, internal consistency, test-retest reliability and responsiveness. Item response theory (IRT) was used to investigate the discriminative power of individual CAF-QoL items and to test for differential item functioning (DIF), examining whether each item behaves equally across all respondents. Results Questionnaires were completed by 264 patients (response rate 64%; female 56%) (Table 1). The median pCD duration at inclusion was 3.0 years (IQR 1.0 – 8.0). Evaluation of construct validity found a moderate correlation between CAF-QoL and sIBDQ (r -0.61, p<0.01) and EQ-5D-5L (r -0.58 [utility] and r -0.42 [VAS], p<0.01) scores. Furthermore, the CAF-QoL scale demonstrated excellent internal consistency (Cronbach’s alpha 0.93), good stability (intraclass correlation coefficient 0.83) and responded well to improvement and worsening of pCD symptoms (p<0.01)(Table 2). Discrimination values revealed that most items (73%) possessed a moderate to high ability to predict poor QoL; items pertaining to the impact of pCD on daily life had the greatest predictive abilities. No clinically relevant DIF was found among patients of different ages, sexes or education levels. Conclusion In this prospective multicenter study, the CAF-QoL scale was validated as a robust tool to measure pCD-specific QoL among Dutch patients with active pCD. Therefore, this scale appears to be well suited for use in clinical practice. Further studies are required to establish a minimal clinically important difference for the CAF-QoL scale; this would determine the smallest change in test scores perceptible to the patient, enabling effective monitoring of treatment outcomes.

Multicenter Validation of the Ocular Myasthenia Gravis Rating Scale Questionnaire.

Ocular myasthenia gravis (OMG) causes disabling ocular symptoms of ptosis and diplopia, but a validated disease-specific patient-reported outcome measure (PROM) has not been reported. We sought to validate a novel PROM for OMG, OMG Rating Scale Questionnaire (OMGRate-q), as a measure of visual functioning to support patient-centered care. This was a prospective study of patients aged 18 years and older with OMG receiving care at 3 medical centers (January 2022-October 2023). The 10-item OMGRate-q was administered, and response data were analyzed using exploratory factor analysis followed by Andrich rating scale model fitting. Poorly fitting items were eliminated, and the model was refit to produce the final items, item locations, and thresholds. Latent scores (theta) were estimated, test-retest reliability was established with repeat measures, and correlation with other myasthenia gravis PROMs was measured. Of the 134 patients included in the study, 45 (33.6%) were women, 99 (73.9%) were White, and the median age (interquartile range [IQR]) was 64.6 years (52.6-73.9 years). A ptosis-related item showed significant item-trait deviation (p < 0.001) and was kept as a separate factor from the remaining diplopia-related items. After excluding this item, there were no misfitting items. Theta estimation for the diplopia scale ranged from -3.47 to 5.51 with median = -0.53 (IQR -2.33, 0.72). Test-retest reliability of the OMGRate-q diplopia subscale was high (intraclass correlation coefficient = 0.95 [95% CI 0.90-0.98]) and of the ptosis item was good (weighted κ = 0.56). No significant differences were observed in OMGRate-q diplopia subscale scores or the ptosis item between the 3 sites (diplopia p = 0.44; ptosis p = 0.32). OMGRate-q scores were moderately to highly correlated with the Myasthenia Gravis Quality of Life 15 questionnaire (n = 122; diplopia: r = 0.68, p < 0.001; ptosis: r = 0.48, p < 0.001) and Myasthenia Gravis Impairment Index (n = 130; diplopia: r = 0.76, p < 0.001; ptosis: r = 0.77, p < 0.001). OMGRate-q length was acceptable to most participants (125/130 [96.2%]), and the questionnaire was completed in 80.7 (±45.2) seconds. The OMGRate-q is a valid and reliable disease-specific PROM for OMG that may be used to facilitate patient-centered research and care. However, the OMGRate-q emphasizes the impact of diplopia on visual functioning with a single separate item measuring ptosis. Future studies are needed to determine OMGRate-q responsiveness to disease-state changes and how to add measures of ptosis to this scale or whether a separate measure is needed.

Comparative analysis of patient-reported outcomes in joint arthroplasty surgeries

Background This study aims to report and analyze disease-specific patient-reported outcome measure (PROM) effect size (ES) variations, in patients undergoing major arthroplasty surgery. Material and methods All institution-based data of primary knee, hip, or shoulder arthroplasty patients at Turku University hospital (Finland) between January 2020 –December 2022 were collected, and treatment outcome assessed as a PROM difference between baseline and one-year follow-up. PROM ES were calculated for each patient and patient group separately, and patients with ES &gt;0.5, were considered responders. Factors contributing to patient outcome and differences between patient groups were investigated using linear models and non-parametric methods. Results 2580 patients were operated (complete follow-up data on 1828 patients). 1110 (61%) of the patients were female, and mean age was 69 years (SD 10). The mean ES across all patient groups was 2.64 (SD 1.29) and the biggest ES was observed in shoulder patients and the smallest in knee patients. Smaller ES was statistically significantly associated with higher preoperative PROM, higher ASA class, and old age. The percentage of responders was highest for shoulder patients (97.7%), followed by hip patients (96.8%), and lowest for knee patients (92.5%). Conclusion The observed ES for joint arthroplasty surgeries is high. However, there are significant disparities among patients with primary knee, hip, and shoulder joint arthroplasty surgery. These variations are mainly due to differences in preoperative PROM score and may be attributed to differences in patient selection. We recommend that prior to shared decision-making, preoperative scores are thoroughly reviewed with the patient, along with other patient specific factors that may influence the end result of the treatment.

Caries Impacts and Experiences and Dental Care Utilization for Saudi Schoolchildren: Caries Impacts and Experiences Questionnaire for Children – A Disease-Specific Measure

Introduction: The Caries Impacts and Experiences Questionnaire for Children (CARIES-QC) is a disease-specific questionnaire that assesses the impact of caries on the oral health-related quality of life of children. This study aimed to establish a baseline for caries-specific impact on schoolchildren in Saudi Arabia and to examine its association with dental care utilization. Methods: This cross-sectional study used random stratified cluster sampling among 4th–6th graders in Jeddah. Two surveys were administered: (1) a general parental survey and (2) CARIES-QC, a self-reported survey for children. Clinical examinations were conducted using the decayed, missing due to caries, and filled teeth (DMFT/dmft) index. Descriptive statistics provided CARIES-QC baseline estimates, and multilevel linear regression was performed to examine the relationships between CARIES-QC scores, DMFT/dmft index, and care utilization. Results: A total of 805 children aged 8–13 years participated. The overall median CARIES-QC score was six (interquartile range, 3–11). A higher DMFT/dmft index was associated with a higher CARIES-QC score (p < 0.05). Children who had never visited a dentist had lower CARIES-QC scores (β = −1.18, 95% confidence interval: −2.33; −0.02, p = 0.045) than those who had visited a dentist in the past 12 months. After adjusting for reasons for dental visits, the CARIES-QC scores were not associated with prior dental visits (p = 0.086). Conclusion: A higher DMFT/dmft index was associated with higher CARIES-QC scores, but prior dental care utilization was not significantly associated with improved CARIES-QC scores. Future research should explore other factors that influence the relationship between care utilization and caries-specific quality of life.

What is the future for dementia with Lewy bodies?

Dementia with Lewy bodies (DLB) is the second most common neurodegenerative dementia after Alzheimer's disease (AD), yet it remains under-recognized and frequently misdiagnosed due to heterogenous clinical presentations, the presence of co-pathology, and the lack of specific diagnostic tools. Pathologically, DLB is characterized by the accumulation of misfolded alpha-synuclein (aSyn) aggregates, known as Lewy bodies. Recent advancements have improved in vivo detection of aSyn pathology through techniques such as seed amplification assays, monoclonal antibodies, and positron emission tomography using novel small-molecule ligands. The ability to detect aSyn in vivo has sparked dialogue about using biomarkers to identify individuals with aSyn, similar to the approach influencing the field of AD. Proponents argue that biological staging could facilitate the detection of preclinical disease stages, allowing for earlier intervention and targets for disease modification, and could improve diagnostic sensitivity and accuracy in selecting patients for clinical trials. However, critics caution that this method may oversimplify the complexity of DLB and overlook its clinical heterogeneity, also highlighting practical challenges related to implementation, cost, and global access to advanced diagnostic technologies. Importantly, although significant progress has been made in detecting aSyn for diagnostic purposes, disease-modifying therapies targeting aSyn have yet to demonstrate clear efficacy in slowing disease progression. Elucidating the physiological and pathophysiological roles of aSyn remains an urgent priority in neurodegenerative research. Other experimental research priorities for DLB include developing improved cellular and animal models that reflect epigenetic and environmental factors, mapping post-translational modifications, and systematically characterizing neurons that are vulnerable and resistant to lewy pathology using a multi-omic approach. Clinically, there is an urgent need for international, prospective, longitudinal studies and for validated, disease-specific outcome measures. Addressing these priorities is essential for advancing our understanding of DLB and developing effective therapies.

Systematic review of prognostic models for predicting recurrence and survival in patients with treated oropharyngeal cancer

ObjectivesThis systematic review aims to evaluate externally validated models for individualised prediction of recurrence or survival in adults treated with curative intent for oropharyngeal cancer.DesignSystematic review.SettingHospital care.MethodsSystematic searches were conducted...

Development of ICF-based patient-reported outcome and experience measures to study social participation among people with chronic diseases: a mixed-methods protocol

IntroductionLiving with a chronic disease impacts many aspects of life, including the ability to participate in activities that enable interactions with others in society, that is, social participation (SP). Despite...

A qualitative study on the experiences of autologous haematopoietic stem cell transplant for Multiple Sclerosis

AimAutologous haematopoietic stem cell transplant (HSCT) is an effective treatment for people with highly-active relapsing multiple sclerosis (MS), who are not adequately responding to disease-modifying therapies. To date, research has predominantly focused on disease-specific outcome measures. There is a lack of research exploring patient experiences of this complex treatment. The study aims to explore the experience of considering and receiving HSCT treatment for MS. MethodsSemi-structured interviews were conducted online with 12 adults with MS who had undergone HSCT treatment. Interview topics covered the experience of deciding on the treatment, the HSCT process itself, and the patient-reported outcomes following HSCT. Interviews were audio-recorded and transcribed verbatim. A thematic analysis approach was employed. ResultsThree main themes were identified: (1) Balancing hope and fear explores the decision-making experience when considering HSCT as a treatment; (2) Distinct emotional experience, highlights the unique challenges faced on all stages of the treatment journey; and (3) Adjusting to outcomes, explores how participants make sense of the aftermath of the treatment, including managing the ongoing uncertainty of MS and complications arising from HSCT. DiscussionHSCT is a complex treatment, both physically and psychologically for pwMS. A comprehensive and holistic care pathway is required to support people with MS at all stages of the treatment process, to ensure patient-centred planning and care.

EE670 Impact of Different Mapping Algorithms From Disease-Specific Measures to EQ-5D on Cost-Effectiveness Analysis in Atopic Dermatitis

EE670 Impact of Different Mapping Algorithms From Disease-Specific Measures to EQ-5D on Cost-Effectiveness Analysis in Atopic Dermatitis

Enthesitis of Plantar Fascia Affects Gait in Patients With Ankylosing Spondylitis.

Many factors, such as decreased spinal mobility, pain, and dysfunction can affect gait parameters in patients with ankylosing spondylitis. The purpose of this study was to investigate the effects of plantar fascia enthesitis and disease-specific measurements on gait parameters in patients with ankylosing spondylitis. The Win-Track platform was used to evaluate spatiotemporal parameters in patients with ankylosing spondylitis and in healthy controls. The Bath Ankylosing Spondylitis Metrology Index (BASMI), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and Bath Ankylosing Spondylitis Function Index (BASFI) were used for disease-related parameters in patients with ankylosing spondylitis, respectively. Tendon thickness in the plantar fascia was measured using ultrasound to evaluate enthesitis. Thirty-one patients with ankylosing spondylitis and 31 healthy participants were included in the study. Cadence and step-cycle duration had a significant relationship with enthesitis for all regions and disease-related measurements. In addition, step length had a significant relationship with enthesitis for the midfoot and metatarsal bones, BASMI, and BASDAI; the left step length had a significant relationship with enthesitis in the calcaneus. The double-support phase had a significant relationship with enthesitis and BASMI. In the regression analysis, a significant relationship was found between BASDAI and step cycle time. A significant correlation was observed between all ultrasonographic parameters and cadence and stride cycle time values. Impaired gait parameters were found in ankylosing spondylitis patients, and we concluded that plantar fascia enthesitis, function, disease activity, and spinal mobility affect gait parameters for these patients. Therefore, therapy for enthesitis, and adding foot rehabilitation to the routine program should be considered for patients with ankylosing spondylitis.

Validation of the Kansas City Cardiomyopathy Questionnaire in Patients With Tricuspid Regurgitation.

Improving patients' health status is a key goal of treating tricuspid regurgitation (TR). The Kansas City Cardiomyopathy Questionnaire (KCCQ) is a heart failure disease-specific health status measure used to capture the health status impact of TR and the benefit of transcatheter tricuspid valve intervention (TTVI), but its validity in this clinical setting is unknown. To evaluate the psychometric properties of the KCCQ in patients with TR. Data were pooled from patients with severe TR enrolled in 11 manufacturer-sponsored trials of TTVI. The data were transferred to the US Food and Drug Administration to harmonize and anonymize prior to analysis by an independent center. Data were collected from December 2015 to April 2023, and data analysis was performed from July to October 2023. Prespecified analyses included evaluation of internal consistency, reproducibility, responsiveness, construct validity, and predictive validity. Outcomes were determined using Cronbach α, score comparisons, intraclass correlation, Cohen d, Spearman correlations with best available reference measures, and association of scores and changes in scores with risk of subsequent clinical events. The study cohort was composed of 2693 patients enrolled in either single-arm (n = 1517) or randomized (n = 1176) investigations of TTVI. Mean (SD) patient age was 78.6 (8.0) years, 1658 of 2693 patients (61.6%) were female, and the mean (SD) baseline KCCQ Overall Summary (KCCQ-OS) score was 50 (23). There was strong internal consistency within individual domains (Cronbach α, .77-.83). Among clinically stable patients between 1 and 6 months, there were small mean changes in KCCQ domain and summary scores (differences of -0.1 to 1.9 points), demonstrating reproducibility. In contrast, domain and summary scores of patients who underwent TTVI showed large improvements at 1 month after treatment (mean changes, 12.1-21.4 points), indicating excellent perceived responsiveness. Construct validity was moderately strong when domains were compared with best available reference measures (Spearman correlations, 0.47-0.69). In both cross-sectional and longitudinal analyses, the KCCQ-OS was associated with clinical events, with lower scores associated with an increased risk of mortality (hazard ratio, 1.34 per 10-point decrement; 95% CI, 1.22-1.47) and heart failure hospitalization (hazard ratio, 1.24 per 10-point decrement; 95% CI, 1.17-1.31). In this cohort study, the KCCQ had strong psychometric properties in patients with severe TR, including reliability, responsiveness, and validity. These data support use of the KCCQ in patients with severe TR as a measure of their symptoms, function, and quality of life and also for assessing the impact of interventions, such as TTVI, in rigorously controlled trials.

Towards Standardized Assessment of Outcomes in Back Pain-Validation of Linking Studies Between Disease-Specific and Generic Patient-Reported Outcome Measures.

Background: Comparing outcomes across different health measurement tools is essential where various patient-reported outcome measures (PROMs) are used. In spinal surgery, where recent studies show that over 30 different PROMs are applied, this need becomes even more pressing. Although several statistical transformations between the Oswestry Disability Index (ODI) and the PROMIS Profile 29 have been proposed, validation studies on conversion equations and cross-walk tables remain limited. In this study, we examined the agreement between observed ODI scores and those predicted from the PROMIS Profile 29 in a large sample of patients with low back pain, collected from routine clinical care. Methods: We compared the performance of regression and linking models at both the individual and group levels. Using Bland-Altman plots, we assessed the mean difference, 95% limits of agreement, root mean squared error (RMSE), and standardized mean differences (Cohen's d) between predicted and observed ODI scores. Results: While group-level agreement was satisfactory, with negligible effect sizes, individual prediction accuracy was relatively poor. Additionally, regression models showed inconsistent performance across the ODI score range, though incorporating more domains marginally improved predictions. Conclusions: The equipercentile linking approach demonstrated stable agreement across all ODI scores, making it the preferred method. Future regression models should account for nonlinear relationships between PROMs to enhance prediction accuracy.

Development of a novel Patient-Reported Outcome Measure (PROM) for adults with an Inherited Cardiac Condition (ICC)

Abstract Background Research on the quality-of-life (QoL) among patients with inherited cardiac conditions (ICC) is limited. Existing evidence from a systematic review indicates that most studies rely on generic measures of health-related QoL, which may not adequately capture ICC-specific factors. The current study aims to develop a disease-specific patient-reported outcome measure to address this gap. Methods Using a qualitative study design, we first conducted focus groups until data saturation was achieved (n=15). Additionally, an expert panel of healthcare professionals was interviewed to ascertain their perspectives on patient-centered care and to evaluate face validity. Transcripts of all focus groups and interviews were analyzed thematically using Atlas.ti, qualitative analysis software, to identify concepts and formulate survey items for the initial instrument. We used the ‘Centre for Health Promotion’ QoL model, consisting of three domains- Being, Belonging, and Becoming- as the theoretical framework for our analysis. Results Our analysis revealed alignment with specific QoL domains of the overarching framework and identified a gap in genetic-specific domains. A novel overarching theme, genetic well-being, was identified, encompassing specific constructs related to future uncertainty, reproductive concerns, and the anticipation of disease development, thus enriching the conceptualization of QoL in the context of inherited cardiac conditions. The discussion will include an exploration of the face validity of the draft instrument. Conclusion Patients diagnosed with an inherited cardiac condition (ICC) face a spectrum of challenges originating from both disease-related stressors and hereditary factors alike. Recognizing that relying solely on objective clinical assessment may fail to capture the full impact of the disease, there has been an increasing focus on incorporating patient-reported measures into disease evaluation. This qualitative study contributes to developing a comprehensive patient-reported outcome measure tailored to individuals with ICC.PROM development study

CARD-SARC: mixed-method study to develop a disease-specific health-related quality of life tool for cardiac sarcoidosis

Abstract Introduction Sarcoidosis is a rare inflammatory condition caused by the formation of lumps (granulomas) of abnormal tissue in any organ, and can affect physical, functional, mental, social and economic aspects of life. People living with cardiac sarcoidosis (CS) are likely to have worse clinical outcomes and greater impairment on health-related quality of life (HRQoL) than other sarcoidosis manifestations. HRQoL is the main concern for people living with sarcoidosis. However, measuring HRQoL in people with CS is difficult as existing tools focus on other forms of sarcoidosis (for example, lung, eye or skin involvement) or for specific cardiac symptoms (for example, atrial fibrillation, angina or heart failure), but not specifically for CS. Purpose To develop a disease-specific patient-reported outcome measure (CARD-SARC) to assess the impact of CS on HRQoL. Methods A sequential exploratory mixed-method, multicentre observational cohort study using a clinimetric approach was conducted. The McMaster Framework for evaluative instruments involved three steps (item selection, item scaling and item reduction) which were complemented with recommendations from the consensus-based standards for the selection of health measurement instruments (COSMIN). The item-generation process connected data from quantitative (theory, research findings and systematic review) and qualitative components (qualitative semistructured interviews, clinical observations and experts’ opinion). A simultaneous triangulation (QUAN+qual) method was followed to ensure a comprehensive list of preliminary items. The formatting of items was guided by patient and public involvement (PPI) with a 2-weeks recall period. The item reduction strategy was led by PPI and an international multidisciplinary clinical CS-experts. Results 740 potential items were generated by converging all the different sources and techniques. After removal of duplicates and simultaneous triangulation, a preliminary list with 111 items was reviewed by the CS-expert panel with 26 members (including 11 pulmonologists, 7 cardiologists, 5 CS-patients and 3 specialist-nurses). After a consensus meeting, the CARD-SARC included 61 relevant items in six sections for pilot-testing: "functioning", "social, leisure and occupation", "emotional", psychological", "physical" and "healthcare/self-care". Conclusions This study combined a robust methodology with active PPI engagement to develop the first disease-specific HRQoL tool for CS. Each data source was planned independently, however the input from PPI members was critical during the simultaneous triangulation for item-generation. The contributions of CS-experts (members of the PPI group and clinical multidisciplinary experts) enhanced the content validity of the CARD-SARC. The CARD-SARC has the potential to influence clinical management and treatment options, future research and health-economic stakeholders’ decisions for CS.

Development and validation of the RQLQ: a Raynaud’s disease–specific measure of health-related quality of life

Introduction/objectivesThe aim of this study was to develop and validate the Raynaud Specific Quality of Life Questionnaire (RQLQ) for assessing health-related quality (HRQOL) of life in patients with Raynaud’s disease (RD).MethodThe questionnaire was developed and validated in three stages. Initially, semi-structured interviews with 28 RD patients identified domains of everyday life affected by RD, leading to the creation of the initial RQLQ. In the first quantitative stage, 101 patients completed the RQLQ, and exploratory factor analysis assessed dimensionality and factor structure. After removing poorly performing items, the final RQLQ was tested with 102 patients. This stage also evaluated convergent, divergent, and discriminant validity, as well as internal reliability.ResultsFrom the interviews, 135 items were generated, with factor analysis refining the measure to 29 items across five subscales, showing good internal consistency. The RQLQ demonstrated significant correlations with self-rated quality of life and physical and mental health outcomes, confirming convergent and divergent validity. It also showed discriminant validity for different levels of disease activity.ConclusionsThe RQLQ is the first specific HRQOL measure for RD patients, proving to be a psychometrically sound, reliable, and valid tool for clinical research and practice.Key Points• The Raynaud Specific Quality of Life Questionnaire (RQLQ) is an important scale that evaluates the quality of life of patients with Raynaud’s disease.• The questionnaire showed good validity and reliability a capturing disease-specific quality of life.• This tool may aid in clinical research and practice.

Measuring internalized health-related stigma across health conditions: development and validation of the I-HEARTS Scale.

Health-related stigma and its internalization among individuals with chronic health conditions contribute to impaired mental and physical health and quality of life. Research on health-related stigma has been siloed, with disease-specific measures that may not capture the experiences of individuals with multiple health conditions and that prevent comparisons across health conditions. The current study aimed to develop and test a transdiagnostic measure of internalized health-related stigma for use among adults with different physical health conditions. An existing measure of internalized mental health stigma was adapted to assess stigma due to chronic physical health conditions following COSMIN procedures, with input from advisory boards of community members living with a range of stigmatized health conditions (obesity, type 1 and type 2 diabetes, skin diseases, HIV, chronic pain, and cancers) and of health professionals who specialized in these conditions. The new Internalized Health-Related Stigma (I-HEARTS) Scale was tested in an online sample of 300 adults with these health conditions, recruited from ResearchMatch. Additional psychosocial measures of mental health and quality of life were administered, and participants provided information about their health conditions and demographic characteristics. Exploratory factor analysis and tests of reliability and validity were conducted to determine the psychometric properties of the I-HEARTS Scale, and k-means clustering and receiver of characteristic curve analysis were used to determine a clinically meaningful cutoff score indicating high levels of internalized stigma. Factor analysis results yielded a 25-item scale with a 3-factor solution, with subscales of Perceived and Anticipated Stigma, Stereotype Application and Self-Devaluation, and Stigma Resistance. Psychometric properties for internal consistency, inter-item and item-total correlations, and test-retest reliability were strong. Certain demographics (e.g., younger age) and characteristics related to health conditions (e.g., greater symptom severity) were associated with higher levels of internalized stigma. I-HEARTS Scale scores correlated moderately to strongly with related but distinct psychosocial measures, and a cutoff score of 3.40 or higher on the 1-7 rating scale was determined to indicate clinically meaningful levels of internalized stigma. The I-HEARTS Scale is a reliable and valid measure for the assessment of internalized health-related stigma among adults with varied stigmatized chronic health conditions. STUDY PRE-REGISTRATION: https://osf.io/84c5d/?view_only=87238512f6d6475c87f8f64280a8a15f .

Multicohort study testing the generalisability of the SASKit-ML stroke and PDAC prognostic model pipeline to other chronic diseases

ObjectivesTo validate and test the generalisability of the SASKit-ML pipeline, a prepublished feature selection and machine learning pipeline for the prediction of health deterioration after a stroke or pancreatic adenocarcinoma...

Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.

The Rasch-Built Pompe-Specific Activity (R-PAct) scale is a patient-reported outcome measure specifically designed to quantify the effects of Pompe disease on daily life activities, developed for use in Dutch- and English-speaking countries. This study aimed to validate the R-PAct for use in other countries. Four other language versions (German, French, Italian, and Spanish) of the R-PAct were created and distributed among Pompe patients (≥16 years old) in Germany, France, Spain, Italy, and Switzerland and pooled with data of newly diagnosed patients from Australia, Belgium, Canada, the Netherlands, New Zealand, the USA, and the UK and the original validation cohort (n = 186). The psychometric properties of the scale were assessed by exploratory factor analysis and Rasch analysis. Data for 520 patients were eligible for analysis. Exploratory factor analysis suggested that the items separated into two domains: Activities of Daily Living and Mobility. Both domains independently displayed adequate Rasch model measurement properties, following the removal of one item ("Are you able to practice a sport?") from the Mobility domain, and can be added together to form a "higher order" factor as well. Differential item functioning (DIF)-by-language assessment indicated DIF for several items; however, the impact of accounting for DIF was negligible. We recalibrated the nomogram (raw score interval-level transformation) for the updated 17-item R-PAct scale. The minimal detectable change value was 13.85 for the overall R-PAct. After removing one item, the modified-R-PAct scale is a valid disease-specific patient-reported outcome measure for patients with Pompe disease across multiple countries.