Disease-specific Patient-reported Outcome Measures Research Articles

Measuring the Patient Experience in Rare Disorders: Benefit of Pragmatic Mixed-Methods Research in NUT Carcinoma.

IntroductionPatient-centered outcome measurement (PCOM) is essential to capture the outcomes important to patients. However, it presents unique challenges in rare diseases, particularly those that are “young” (not diagnosed before the twenty-first century), with limited literature, lack of disease-specific patient-reported outcome (PRO) measures, and difficult sampling and data collection. One example of this is NUT (nuclear protein in testis) carcinoma (NUTca), a rare and rapidly progressing cancer, with tumors preliminary in the head, neck, and lungs. The published literature on NUTca is scarce. The limited number of case reports focus primarily on the clinical development and presentation of tumors. Currently, there are no publications describing the patient experience of NUTca and no specific PRO measures to assess the patient experience. We conducted mixed-methods research, including concept elicitation interviews, cognitive debriefing, and quantitative data analyses, to fill this evidence gap and describe challenges and solutions in the context of NUTca.MethodsAs published previously, our conceptualization of NUTca was based on elicitation interviews with 27 participants (n = 10 patients; n = 17 caregivers) using a semi-structured format; this framework formed the basis for a bolt-on strategy to develop a bespoke PRO measure based on the EORTC QLQ-C30, supplemented by targeted items from the EORTC Item Library and new items. In this publication, 20 participants were interviewed (n = 10 patients; n = 10 caregivers) to debrief items. Given the variety of tumor locations and related symptoms, and the small sample of patients providing responses to location-specific symptom items, we used response option endorsement frequencies to illuminate the variability of response for the concepts measured.ResultsThis study highlights the challenges in implementing patient-centric research to inform and develop PRO measures in rare diseases.ConclusionsOur mixed-methods research used pragmatic solutions to collect patient experience data and provides an evidence base to inform PCOM in clinical programs in this rapidly progressing rare cancer with high unmet need.Supplementary InformationThe online version contains supplementary material available at 10.1007/s40487-022-00192-6.

Cross-sectional and longitudinal correlations between the Arm Function in Multiple Sclerosis Questionnaire (AMSQ) and other outcome measures in multiple sclerosis

BackgroundThe Arm Function in Multiple Sclerosis Questionnaire (AMSQ) is the first validated disease specific patient-reported outcome measure (PROM) designed to assess upper extremity function in patients with multiple sclerosis (MS). ObjectiveTo determine correlations between the AMSQ and established physician- and performance based outcome measures. MethodsIn a cross-sectional cohort of 533 patients correlations between the AMSQ and the Expanded Disability Status Scale (EDSS), its functional systems, the 9-Hole Peg Test (9-HPT) and the Timed-25 Foot Walk (T25FW) were determined. Subgroup analyses were performed as well. Also, correlations were determined in 110 of 533 patients with available longitudinal data. ResultsStrongest correlations were found in the cross-sectional cohort between the AMSQ and the EDSS (β 0.60, p<.001), the 9-HPT dominant hand (β 0.52, p<.001) and 9-HPT non-dominant hand (β 0.46, p<.001), the Pyramidal (β 0.57 p<.001) and the Cerebellar functional system (β 0.54, p<.001) of the EDSS. ConclusionThe moderate correlations between the AMSQ and several established physician- and performance based outcome measures underline that the AMSQ, an easily at long-distance administrable PROM, could be considered as a reliable outcome measure for the monitoring of MS in daily practice. Additional research is needed to support these findings.

Correction to: P047 The Crohn's Disease-Health Index (CD-HI): Development and Validation of a Novel, Disease-Specific Patient-Reported Outcome Measure for Clinical Trials

Seabury, Jamison1; Weinstein, Jennifer1; Rosero, Spencer1; Varma, Anika1; Wagner, Ellen1; Zizzi, Christine2; Dilek, Nuran3; McDermott, Michael3; Kaat, Aaron4; Saubermann, Lawrence5; Temple, Larissa6; Rogoff, Scott7; Heatwole, Chad3 Author Information

Long-term patient reported sexual and urological dysfunction in males after operatively treated pelvic ring injuries Do generic outcome measures identify genitourinary health problems?

BackgroundA consecutive series of 177 male patients, with high energy pelvic ring injuries, were treated operatively in our institution. The purpose of this study was to evaluate long-term sexual and urological dysfunction in these patients using validated disease specific patient reported outcome measures (PROMs), and identify if sexual and urological dysfunction is detectable from generic outcome scores used in the assessment of pelvic ring injury at a minimum of 10 years follow-up (range 10–22). MethodsSurviving patients were contacted to complete validated PROMs to examine genitourinary and global functional outcome. Fifty-two male participants, had a mean age of 44-years-old (range,16–69) and ISS of 17 at time of injury. Mean duration follow-up of 15 years. The primary outcome measures were the Sexual Health Inventory for Men (SHIM) and the Modular Questionnaire for Male Lower Urinary Tract Symptoms (MLUTS). Secondary outcomes were the EQ-5D and Short Form 36. Responses were tested for correlation between generic and disease-specific PROMs and analyzed for association with genitourinary injury and age as risk factors of poor outcome. ResultsGenitourinary injuries occurred in 7 patients (13%), and ten patients (19%) had documented neurological dysfunction following injury. Satisfactory general functional outcome was reported with EQ-5D-3L VAS score of 71. However, 80% report some level of sexual dysfunction with 37% reporting it as severe. MLUTS mean symptom score was 9 (range, 0 – 26) and bothersomeness score was 21 (range, 0–90). There was poor correlation between urological and sexual dysfunction scores and between the disease specific and generic scores. ConclusionIn operatively treated pelvic ring injuries, validated disease specific PROMs, (SHIM and MLUTs) identified a significant impact to both sexual and urological patient health, with 37% reporting severe sexual dysfunction. Longstanding sexual and/or urological dysfunction can be a source of significant psychological impact that this study has shown is not identifiable using generic PROMs; EQ-5D-3L and SF-36. To gain a holistic understanding of the functional outcome of patients following a pelvic injury, urological and sexual dysfunction must not be overlooked.

DEVELOPMENT AND VALIDATION OF THE CROHN’S DISEASE-HEALTH INDEX (CD-HI), A CLINICALLY-RELEVANT, DISEASE-SPECIFIC PATIENT-REPORTED OUTCOME MEASURE

Abstract STUDY AIM The goal of this research is to develop and validate a novel, disease-specific patient-reported outcome measure (PROM) for use in clinical monitoring and therapeutic trials of Crohn’s Disease (CD). BACKGROUND With approximately 780,000 cases of CD in the U.S., it is important to have a comprehensive, sensitive, and reliable disease-specific PROM that accurately indicates patient function, perceived health, and quality of life. Moreover, as clinical trials are planned for individuals with CD, a valid PROM is vital to determine the overall effect of potential treatments on patient disease burden. This research describes the construction and testing of the Crohn’s Disease-Health Index (CD-HI) as an efficient mechanism to quantify how patients with CD feel and function, and to measure key changes in a patient’s multifactorial health. METHODS We conducted semi-structured, qualitative interviews with 16 CD patients to determine the most frequent and important symptoms in CD. Based on patient responses, we designed a survey which inquired about 148 symptoms from 17 symptomatic themes. This survey was used in a cross-sectional study with 403 patients with CD recruited through the Crohn’s and Colitis Foundation and IBD Partners. The collected data was used to generate the first version of the CD-HI, which contained symptom questions that had the highest impact to the population and the potential to respond to therapeutic intervention. Symptom questions were grouped into distinct symptomatic themes using factor analysis. We beta-tested the CD-HI with 15 patients with CD to evaluate its usability, clarity, and applicability. Based on patient feedback, we modified the instrument and evaluated its longitudinal reliability with 23 patients with CD. Known groups testing was performed with the final instrument. The final version of the health index is now available for use in clinical trials. RESULTS The final version of the CD-HI contains subscales that measure the following areas of CD health: 1) fatigue, 2) dietary restrictions, 3) gastrointestinal health, 4) sleep and daytime sleepiness, 5) bowel and bladder function, 6) emotional wellbeing, 7) joint health, 8) pain, 9) neck and back health, 10) activity participation, 11) social wellbeing, and 12) skin health. Total CD disease burden is measured using a weighted composite of these subscale scores. During beta interviews, patients with CD deemed the instrument to be easy to use, clear, relevant, and comprehensive. Statistical analyses confirmed the reliability, validity, sensitivity, specificity, and internal consistency of the instrument. CONCLUSIONS Our research demonstrates the validity of the CD-HI as a marker of disease burden in CD. This disease-specific PROM provides researchers and clinicians with a reliable tool to use in patient monitoring and clinical trials.

Distance to first symptoms measured by the 6-min walking test differentiates between treatment success and failure in patients with degenerative lumbar disorders

PurposeThe smartphone-based 6-min walking test (6WT) is an established digital outcome measure in patients undergoing surgery for degenerative lumbar disorders (DLD). In addition to the 6WTs primary outcome measure, the 6-min walking distance (6WD), the patient’s distance to first symptoms (DTFS) and time to first symptoms (TTFS) can be recorded. This is the first study to analyse the psychometric properties of the DTFS and TTFS.MethodsForty-nine consecutive patients (55 ± 15.8 years) completed the 6WT pre- and 6 weeks (W6) postoperative. DTFS and TTFS were assessed for reliability and content validity using disease-specific patient-reported outcome measures. The Zurich Claudication Questionnaire patient satisfaction subscale was used as external criterion for treatment success. Internal and external responsiveness for both measures at W6 was evaluated.ResultsThere was a significant improvement in DTFS and TTFS from baseline to W6 (p < 0.001). Both measures demonstrated a good test–retest reliability (β = 0.86, 95% CI 0.81–0.90 and β = 0.83, 95% CI 0.76–0.87, both p < 0.001). The DTFS exceeded the 6WD capability to differentiate between satisfied (82%) and unsatisfied patients (18%) with an AUC of 0.75 (95% CI 0.53–0.98) vs. 0.70 (95% CI 0.52–0.90). The TTFS did not demonstrate meaningful discriminative abilities.ConclusionChange in DTFS can differentiate between satisfied and unsatisfied patients after spine surgery. Digital outcome measures on the 6WT metric provide spine surgeons and researchers with a mean to assess their patient’s functional disability and response to surgical treatment in DLD.

Patient-Reported Outcome Measures in Symptomatic, Non-Limb-Threatening Peripheral Artery Disease: A State-of-the-Art Review.

Patient-reported outcome measures (PROMs) are health outcomes directly reported by the patient that can be used to measure the effect of disease and treatments on patient perceived well-being. This review summarizes current evidence regarding the validation of PROMs in people with symptomatic, nonlimb-threatening peripheral artery disease. A literature search was conducted to identify studies of symptomatic peripheral artery disease without limb-threatening ischemia that included PROMs and had sample sizes ≥25. PROMs were summarized along a continuum of validation using classical test theory framework and according to whether they fulfilled defined criteria for (1) content validity; (2) psychometric validation; and (3) further validation evidence base expansion. Of 2198 articles identified, 157 (7.1%) met inclusion criteria. Twenty-four PROMs in patients with symptomatic peripheral artery disease were reviewed. Among disease-specific PROMs, 8 of 15 had excellent reliability as measured by a Cronbach alpha ≥0.80. Based on established criteria for PROM responsiveness, 6 of 15 disease-specific PROMs demonstrated excellent sensitivity to change. Of these, the disease-specific peripheral artery questionnaire, vascular quality of life questionnaire, and walking impairment questionnaire met criteria for validation at each stage of the continuum. For generic (nondisease specific) PROMs, the European Quality of Life 5-Dimension and SF-36 had the most extensive evidence of validation. Evidence from this review can inform selection of PROMs aligned with scientific and clinical goals, given the variable degree of validation and potential complementary nature of the measures.

Health-related quality of life in patients with lower limb amputation – an assessment of the measurement properties of EQ-5D-3L and EQ-5D-5L using data from the Swedish Amputation and Prosthetics Registry

Purpose To assess the measurement properties of EQ-5D-3L and EQ-5D-5L in patients with a major lower limb amputation (LLA). Methods This was a retrospective register-based study using data from the Swedish Amputation and Prosthetics Registry (SwedeAmp). Patients with a six-months follow-up (including either EQ-5D-3L or EQ-5D-5L) after a major unilateral LLA were included. The measurement properties of EQ-5D-3L and EQ-5D-5L were compared in terms of feasibility, response patterns, informativity, and convergent and known-group validity. Results The sample included 700 patients with below-knee amputation (76%), above-knee amputation (18%), or knee disarticulation (7%). Responses to EQ-5D-3L and −5L were similar regarding feasibility (98% completion rate) and the proportion reporting no problems (7% and 6%). Compared to EQ-5D-3L, EQ-5D-5L showed higher absolute and relative informativity in all dimensions, with the largest improvement in the mobility dimension. In the analyses of convergent validity, the EQ-5D-5L generally showed stronger correlations with disease-specific measures. Only EQ-5D-5L was able to discriminate between subgroups with different amputation levels. Conclusion The findings support the use of EQ-5D-5L over EQ-5D-3L in patients with an LLA, mainly due to improved informativity and improved convergent and known-group validity. Implications for rehabilitation The measurement properties of two EQ-5D versions, EQ-5D-3L and EQ-5D-5L, has so far not been evaluated in patients with a lower limb amputation (LLA) The results support the use of EQ-5D-5L over the use of EQ-5D-3L, mainly due to improved informativity and stronger correlations with disease-specific patient-reported outcome measures The five-level version of EQ-5D is recommended for future applications of EQ-5D in clinical outcome studies, health economic evaluations, and in the routine follow-up of patients with a major LLA In the early rehabilitation process six months after an LLA, the majority of patients reported problems with mobility, pain/discomfort, and usual activities

P047 The Crohn's Disease-Health Index (CD-HI): Development and Validation of a Novel, Disease-Specific Patient Reported Outcome Measure for Clinical Trials.

In preparation for upcoming clinical trials involving patients with Crohn's disease (CD), we examine the validity, reliability and usability of the Crohn's Disease-Health Index (CD-HI). The CD-HI is a multifaceted, disease-specific patient reported outcome measure (PROM) designed to measure CD symptomatic disease burden during clinical trials. As promising therapeutic interventions are being tested among CD patients, there is a clear need for researchers to have access to a valid, sensitive, and reliable patient reported outcome tool to track disease burden. This research describes the development and validation of the CD-HI as an efficient mechanism to quantify how CD patients both feel and function. We conducted semi-structured, qualitative interviews with CD patients to identify potential symptoms of importance in CD. We then conducted a large, cross-sectional survey study with CD patients to identify the prevalence and importance of symptoms identified during the prior interviews. Symptom questions in the first version of the CD-HI were selected based on overall frequency and impact in a large population of CD patients, generalizability, and potential to respond to therapeutic intervention. Questions which measured a similar concept were grouped into subscales using factor analysis. The first version of the CD-HI was beta tested to explore the usability and relevance of the instrument to patients. We then performed test-retest reliability of each question and subscale. Lastly, we determined the internal consistency for each subscale and the overall instrument. The CD-HI is now finalized and available for use in upcoming clinical trials. Sixteen adults with CD participated in semi-structured qualitative interviews, providing 792 quotes regarding the symptomatic burden of CD. Four hundred and three adults with CD completed an online survey to determine the prevalence and relative importance of 148 patient identified symptoms. Questions were selected for the CD-HI based on their prevalence and relative importance to CD patients. Sixteen adults with CD participated in beta interview testing to address the usability and relevance of the instrument. Patients found the CD-HI to be clear, highly relevant, and easy to use. Test-retest reliability was conducted with twenty-three adults with CD, where participants completed the CD-HI at baseline and fourteen days later. One question was removed to optimize the overall reliability of the instrument. The final version of the CD-HI contains subscales that measure the following granular areas of CD health: 1) fatigue; 2) dietary restrictions; 3) gastrointestinal health; 4) sleep and daytime sleepiness; 5) bowel and bladder function; 6) emotional health; 7) joint health; 8) pain; 9) neck and back health; 10) activity participation; 11) social health; and 12) skin health. Total CD disease burden is measured using a weighted composite of these subscale scores. This research successfully demonstrates the ability of the CD-HI to report valid, reliable, and patient-relevant data as a disease-specific PROM. The CD-HI provides researchers and clinicians with an optimal mechanism to record relevant changes in CD health using the patient's perspective.

General Patient-Reported Outcome Measure Tools Non-Reflective of AL Amyloidosis Quality of Life (QoL): A Systematic Literature Review

Background: Systemic AL Amyloidosis is characterized by deposition by amyloid fibrils of light chains produced by clonal plasma cells. New combination therapies have substantially prolonged the life expectancy of patients with AL Amyloidosis . Still the prognosis of the disease in the majority of the patients is dismal and Quality of Life (QoL) issues should be included in clinicians' primary objectives. Nowadays, patient-reported outcome measures (PROMs) are considered one of the most responsive tools that can guide personalized interventions to optimize QoL in parallel with therapeutic interventions. The aim of this metanalysis was to establish which PROMs have been utilized in studies on AL Amyloidosis and evaluate their validity.Methods: Two independent investigators (S.B.; C.K.) systemically reviewed PubMed, Medline and EMBASE databases for publications up to May 2021 on PROMs employed to report QoL outcomes in AL Amyloidosis. The identified PROMs were subsequently assessed for their validity in this context against COSMIN (Consensus-based Standards for the selection of health Measurement Instruments) quality criteria.Results:Of the 246 publications originally retrieved, only 57 were further analysed as 92 were duplicates, 11 were irrelevant to AL Amyloidosis, 56 did nor refer to QOL and 13 reported QOL without using QOLQs, 13 were case-reports and 4 were review articles. These included 47 observational studies and 10 prospective clinical trials. In these, thirteen different PROMs were used on occasion to report QOL outcomes (SF-36; EQ-5D-3L; FACT-G; PROMIS-GH); HPRSS; DT; EORTC QLQ-C30; KCCQ-12; GAF; SWLS; STAI; CESD; MDASI) with SF-36 being the most popular (35/ 58 publications). All of them are traditionally validated in similar to AL Amyloidosis diseases (e.g. Multiple Myeloma) or in its complications (e.g. Congestive Heart Failure). In the absence of face-validity studies, the content validity of these PROMs was assessed against QOL aspects identified in literature by open questionnaires (Table 1). The outcome of the intensive analysis of these studies showed that the QoLQ fail to cover the broad spectrum of disease symptoms and current therapy-related toxicity. Furthermore, there is limited if any evidence for the validation of these tools in this context (Table 2). COSMIN criteria were met only for SF-36 and PROMIS-GH as regards internal consistency (Cronbach's a>70).Conclusions: This literature review reveals that commonly applied PROMs in studies on AL Amyloidosis do not represent the impact of this complex disease and its treatment on QoL issues. Thus, there is a need to develop a new, well-validated, disease-specific PROM that can facilitate the approval of new treatments and the adjustment of therapy-intensity according to its toxicity and QoL. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Current status of patient-reported outcome measures in vascular surgery

A previously published review focused on generic and disease-specific patient-reported outcome measures (PROMs) relevant to vascular surgery but limited to arterial conditions. The objective of this project was to identify all available PROMs relevant to diseases treated by vascular surgeons and to evaluate vascular surgeon perceptions, barriers to widespread implementation, and concerns regarding PROMs. We provide an overview of what a PROM is and how they are developed, and summarize currently available PROMs specific to vascular surgeons. We also report results from a survey of 78 Society for Vascular Surgery members serving on committees within the Policy and Advocacy Council addressing the barriers and facilitators to using PROMs in clinical practice. Finally, we report the qualitative results of two focus groups conducted to assess granular perceptions of PROMS and preparedness of vascular surgeons for widespread implementation of PROMs. These focus groups identified a lack of awareness of existing PROMs, knowledge of how PROMs are developed and validated, and clarity around how PROMs should be used by the clinician as main subthemes for barriers to PROM implementation in clinical practice.

Advanced translation and cultural adaption of the LYMPH-Q Upper Extremity Module from English to Danish

BackgroundTo better quantify the impact that breast cancer-related arm lymphedema (BCRL) has on health-related quality of life (HR-QOL), a disease-specific patient-reported outcome measure (PROM) is needed. The LYMPH-Q Upper Extremity Module was recently developed for patients with BCRL. The aim of this study was to perform an advanced translation and culturally adapt the LYMPH-Q Upper Extremity Module for use in Denmark.MethodsThe LYMPH-Q Upper Extremity Module was translated into Danish according to the guidelines of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) and the World Health Organization (WHO). The process included two forward and one back translation, an expert panel meeting, and cognitive debriefing interviews with patients. The focus of the translation was to develop a Danish version that used appropriate patient-friendly language while maintaining the meaning of the items, instructions and response options.ResultsThe two forward translations resulted in minor differences in terminology. These discrepancies were discussed among the translators and a harmonized Danish version 1 was achieved. Comparison of the back translation to the original English version identified 14 items/instructions/response options that required re-translation. Subsequently, experts helped to identify and resolve the language for 10 items/instructions/response options that did not maintain the same meaning as the English version. Participants in the cognitive debriefing interviews did not report any difficulties with understanding the items/instructions/response options.ConclusionsThe translation and cultural adaption process led to the development of a conceptually equivalent Danish version of the LYMPH-Q Upper Extremity Module.Level of Evidence: Not gradable

Remote Assessment of Lung Disease and Impact on Physical and Mental Health (RALPMH): Protocol for a Prospective Observational Study.

BackgroundChronic lung disorders like chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are characterized by exacerbations. They are unpleasant for patients and sometimes severe enough to cause hospital admission and death. Moreover, due to the COVID-19 pandemic, vulnerable populations with these disorders are at high risk, and their routine care cannot be done properly. Remote monitoring offers a low cost and safe solution for gaining visibility into the health of people in their daily lives, making it useful for vulnerable populations.ObjectiveThe primary objective is to assess the feasibility and acceptability of remote monitoring using wearables and mobile phones in patients with pulmonary diseases. The secondary objective is to provide power calculations for future studies centered around understanding the number of exacerbations according to sample size and duration.MethodsTwenty participants will be recruited in each of three cohorts (COPD, IPF, and posthospitalization COVID). Data collection will be done remotely using the RADAR-Base (Remote Assessment of Disease And Relapse) mobile health (mHealth) platform for different devices, including Garmin wearable devices and smart spirometers, mobile app questionnaires, surveys, and finger pulse oximeters. Passive data include wearable-derived continuous heart rate, oxygen saturation, respiration rate, activity, and sleep. Active data include disease-specific patient-reported outcome measures, mental health questionnaires, and symptom tracking to track disease trajectory. Analyses will assess the feasibility of lung disorder remote monitoring (including data quality, data completeness, system usability, and system acceptability). We will attempt to explore disease trajectory, patient stratification, and identification of acute clinical events such as exacerbations. A key aspect is understanding the potential of real-time data collection. We will simulate an intervention to acquire responses at the time of the event to assess model performance for exacerbation identification.ResultsThe Remote Assessment of Lung Disease and Impact on Physical and Mental Health (RALPMH) study provides a unique opportunity to assess the use of remote monitoring in the evaluation of lung disorders. The study started in the middle of June 2021. The data collection apparatus, questionnaires, and wearable integrations were setup and tested by the clinical teams prior to the start of recruitment. While recruitment is ongoing, real-time exacerbation identification models are currently being constructed. The models will be pretrained daily on data of previous days, but the inference will be run in real time.ConclusionsThe RALPMH study will provide a reference infrastructure for remote monitoring of lung diseases. It specifically involves information regarding the feasibility and acceptability of remote monitoring and the potential of real-time data collection and analysis in the context of chronic lung disorders. It will help plan and inform decisions in future studies in the area of respiratory health.Trial RegistrationISRCTN Registry ISRCTN16275601; https://www.isrctn.com/ISRCTN16275601International Registered Report Identifier (IRRID)PRR1-10.2196/28873

Fundamentals of osteoarthritis: outcome evaluation with patient-reported measures and functional tests

Evaluating outcome in osteoarthritis (OA) clinical research and practice requires reliable, valid and responsive patient-reported outcome measures (PROMs) and functional tests that reflect important problems experienced by people with OA. The goal of this work is to provide information to start to guide the reader in selecting measures for people with OA. In this narrative review, we begin by providing an overview of measurement properties that can help clinicians and researchers in making decisions about whether a measure might be appropriate for use in their research or clinical context. We then report evidence supporting the use of measures of pain (e.g., Pain Visual Analogue (VAS), Numeric Pain Rating Scale (NPRS), Intermittent and Constant Osteoarthritis Pain, PROMIS Pain Interference, and, for screening in research, the painDETECT and the Self-report Leeds Assessment of Neuropathic Symptoms and Signs) and fatigue (e.g., PROMIS-Fatigue) at a group level in clinical research. Several multi-dimensional joint-specific measures (e.g., Western Ontario McMaster Universities' Osteoarthritis Outcomes Scale, Knee/Hip Injury and Osteoarthritis Outcome Score, Oxford Hip/Knee Scale) also have evidence for group-level use. Functional tests (e.g., timed walk tests, 30 Second Chair Stand, Timed Up and Go, etc.) have measurement properties supporting their use at the group level in clinical research and at the individual patient level as do the pain VAS and NPRS. Other generic and disease-specific PROMs have been used in or could be used in OA studies but their measurement properties require further evaluation in people with OA.

Validity, Responsiveness, and Reliability of the ACL-QOL in an Adolescent Population.

The anterior cruciate ligament quality of life (ACL-QOL) score is a disease-specific patient-reported outcome measure that assesses patients with ACL deficient and reconstructed knees. The ACL-QOL has demonstrated validity, responsiveness, and reliability in adult populations but has yet to be specifically evaluated in adolescent patients. The purpose of this study was to assess the validity, responsiveness, and reliability of the ACL-QOL in an adolescent population. Between 2010 and 2015, questionnaires from 294 consecutive adolescent patients consented for an ACL reconstruction were collected from an orthopaedic sport medicine clinic. The ACL-QOL was administered preoperatively, and at 6, 12, and 24 months following primary ACL reconstruction. To assess content validity, the Cronbach α and floor and ceiling effects were measured. Question reading level was measured with an online tool (https://readable.com/). Responsiveness was assessed with a 1-way analysis of variance to compare the preoperative and postoperative time periods. A test-retest strategy with completion of the ACL-QOL twice within 3 weeks was used to assess reliability using an intraclass correlation coefficient (ICC 2,k) and the SEM. The ACL-QOL demonstrated high content validity with a Cronbach αbetween 0.93 and 0.97, with no evidence of floor or ceiling effects at any study time point. The mean readability grade level was calculated to be 6.9, along with a readability score of 68. The ACL-QOL scores revealed a statistically significant improvement over time (P<0.001) with a Cohen d of 0.56, indicating a large effect size. Test-retest reliability revealed an ICC (2,k) of 0.997 (95% confidence interval=0.992-0.999). The ACL-QOL demonstrated content validity, responsiveness to change, and reliability in an adolescent ACL reconstruction population. The readability of the ACL-QOL is acceptable for adolescents with an ACL injury. The ACL-QOL is a valid, responsive, and reliable patient-reported outcome measure that can be used in an adolescent population with ACL deficiency or following ACL reconstruction. Level III.

Choosing patient-reported outcome measures for shoulder pathology.

This study was designed to identify the most frequent shoulder patient-reported outcome measures (PROMs) reported in high-quality literature.A systematic review was performed to identify shoulder PROMs, and their diffusion within the scientific literature was tested with a subsequent dedicated search in MEDLINE.506 studies were included in the final data analysis, for a total number of 36,553 patients.The Disabilities of the Arm, Shoulder and Hand questionnaire (DASH), the American Shoulder, Elbow Surgeons Score (ASES) and the Shoulder Pain and Disability Index (SPADI) were the most frequently reported PROMs in the analysed publications, with disease-specific PROMs being used with increasing frequency.A core set of outcome measures for future studies on patients with shoulder pathologies, based on the international acceptance and diffusion of each PROM, is needed.A combination of the DASH score for shoulder outcome assessment with more specific PROMs, such as the ASES for rotator cuff pathology and osteoarthritis and the SPADI for shoulder stiffness and shoulder pain of unspecified origin, is proposed as a recommended set of PROMs. Cite this article: EFORT Open Rev 2021;6:779-787. DOI: 10.1302/2058-5241.6.200109

Mapping the Edmonton Symptom Assessment System-Revised: Renal to the EQ-5D-5L in patients with chronic kidney disease.

The Edmonton Symptom Assessment System-Revised: Renal (ESAS-r: Renal) is a disease-specific patient-reported outcome measure (PROM) that assesses symptoms common in chronic kidney disease (CKD). There is no preference-based scoring system for the ESAS-r: Renal or a mapping algorithm to predict health utility values. We aimed to develop a mapping algorithm from the ESAS-r: Renal to the Canadian EQ-5D-5L index scores. We used data from a multi-centre cluster randomized-controlled trial of the routine measurement and reporting of PROMs in hemodialysis units in Northern Alberta, Canada. In two arms of the trial, both the ESAS-r: Renal and the EQ-5D-5L were administered to CKD patients undergoing hemodialysis. We used data from one arm for model estimation, and data from the other for validation. We explored direct and indirect mapping models; model selection was based on statistical fit and predictive power. Complete data were available for 506 patient records in the estimation sample and 242 in the validation sample. All models tended to perform better in patients with good health, and worse in those with poor health. Generalized estimating equations (GEE) and generalized linear model (GLM) on selected ESAS-r: Renal items were selected as final models as they fitted the best in estimation and validation sample. When only ESAS-r: Renal data are available, one could use GEE and GLM to predict EQ-5D-5L index scores for use in economic evaluation. External validation on populations with different characteristics is warranted, especially where renal-specific symptoms are more prevalent.

Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials.

To review and recommend patient-reported outcome (PRO) measures assessing multidimensional domains of quality of life (QoL) to use as clinical endpoints in medical and psychosocial trials for children and adults with neurofibromatosis (NF) type 1, NF2, and schwannomatosis. The PRO working group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration used systematic methods to review, rate, and recommend existing self-report and parent-report PRO measures of generic and disease-specific QoL for NF clinical trials. Recommendations were based on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility. The highest-rated generic measures were (1) the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales for NF clinical trials for children or for children through adults, (2) the Functional Assessment of Cancer Therapy-General for adult medical trials, and (3) the World Health Organization Quality of Life-BREF for adult psychosocial trials. The highest-rated disease-specific measures were (1) the PedsQL NF1 Module for NF1 trials, (2) the NF2 Impact on Quality of Life Scale for NF2 trials, and (3) the Penn Acoustic Neuroma Quality of Life Scale for NF2 trials targeting vestibular schwannomas. To date, there are no disease-specific tools assessing multidimensional domains of QoL for schwannomatosis. The REiNS Collaboration currently recommends these generic and disease-specific PRO measures to assess multidimensional domains of QoL for NF clinical trials. Additional research is needed to further evaluate the use of these measures in both medical and psychosocial trials.

The Epworth Sleepiness Scale in epilepsy: Internal consistency and disease-related associations

BackgroundThe Epworth Sleepiness Scale (ESS) is the most common instrument for measuring subjective sleep propensity in people with epilepsy but has not yet been validated in this population. Study objectivesWe aimed to systematically assess the validity, performance, and internal consistency of the ESS, as well as correlations between the ESS and disease-specific variables and patient-reported outcome measures in a cohort of adults with epilepsy (AWE). MethodsNinety-five AWE completed sleep and seizure diaries, in-laboratory polysomnography (PSG) and patient-reported outcome measures, including the ESS, Insomnia Severity Index (ISI), and the Beck Depression Inventory (BDI). Demographic information and data from 95 matched controls referred for PSG for suspected obstructive sleep apnea (OSA) was taken from the electronic medical record. Frequencies of high ESS item ratings (item score ≥2) were calculated for each group. Cronbach’s α and factor analysis were performed to assess the internal consistency and validity of the ESS within cases and controls. Multivariable linear models were used to assess the association between ESS and predictors of interest, adjusting for demographic and disease-specific variables, including seizure type, frequency, and anti-seizure medication (ASM) therapy. ResultsWhile suspected OSA controls had significantly greater mean ESS total scores (9.9 vs 7.9, p = 0.004) and proportion with ESS >10 (42% vs 25%, p = 0.014), there were no significant differences in the severity of item responses, with the exception of “lying down to rest in the afternoon when circumstances permit,” for which more controls rated as likely/very likely (79% vs 64%), p = 0.024). AWE with ESS >10 had higher mean standardized ASM dose (2.5 vs 1.7, p = 0.026). All ESS items were significantly correlated with the total score within each group. Cronbach’s α was 0.75 for cases and 0.85 for controls, indicating good internal consistency of the ESS for both groups. After adjusting for demographic and sleep characteristics, higher ESS scores were associated with greater insomnia scores on the ISI (p = 0.024) and depressive symptoms on the BDI (p = 0.018). ConclusionsThis study provides validity for the use of the ESS in adult populations with epilepsy.

Identification and categorisation of relevant outcomes for symptomatic uncomplicated gallstone disease: in-depth analysis to inform the development of a core outcome set

BackgroundMany completed trials of interventions for uncomplicated gallstone disease are not as helpful as they could be due to lack of standardisation across studies, outcome definition, collection and reporting. This...