Disease-specific Outcome Research Articles

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.

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.

Psychometric Analysis of the Hip Disability and Osteoarthritis Outcome Score (HOOS).

Hip Disability and Osteoarthritis Outcome Survey (HOOS) was developed as a region- and disease-specific outcome to assess hip disability. Despite the use of the HOOS in clinical practice and research, psychometric analyses of the scale in a large dataset of patients have not been performed. As such, the purposes of this study were to assess the structural validity of the HOOS in patients who underwent a total hip arthroplasty. Data were obtained from the Surgical Outcome System (SOS) global registry. Confirmatory factor analysis (CFA) was conducted to assess the scale structure of the 40-item HOOS and exploratory factor analysis (EFA) was conducted to identify a parsimonious scale structure. The parsimonious model identified was subjected to multi-group and longitudinal invariance testing and LGC modeling. The original five-factor, 40-item HOOS did not meet recommended model fit indices values (CFI = 0.822, TLI = 0.809, IFI = 0.822, RMSEA = 0.085). Alternate model generation identified an alternative model (i.e., HOOS-9). Sound model fit was identified for the HOOS-9 (CFI = 0.974, TLI = 0.961, RMSEA = 0.046). Invariance testing criteria were also met between groups (i.e., age and sex) and across time. Lastly, a nonlinear growth trajectory was identified in responses pertaining to hip disability. The original scale structure of the 40-item HOOS was not supported. The HOOS-9 met contemporary model fit recommendations, along with multi-group and longitudinal invariance testing. Our findings support the preliminary use of the HOOS-9 to assess hip function and disability in research and clinical practice.

Assessing Chronic Ear Symptoms in Bone-Conduction Hearing Implant (BCHI) Patients Using the Chronic Otitis Media Benefit Inventory (COMBI) Score.

This study aimed to determine improvement in health-related quality of life (HRQoL) using a validated disease-specific patient-reported outcome measure (PROM) questionnaire in patients undergoing bone-conduction hearing implant (BCHI) insertion. A mixed retrospective and prospective correlational study. Single tertiary referral center in the United Kingdom. All adult patients undergoing their first BCHI over 6 years (April 1, 2017, to March 3, 2023). The Chronic Otitis Media Benefit Inventory (COMBI) score (postintervention) and the Glasgow Health Status Inventory (GHSI) (pre-and post-BCHI questionnaire). Improvements were seen across all COMBI domains. The mean total COMBI score was 46.3 (standard deviation = 5.3). Although expected significant improvements were seen in hearing and social domains, there were also notable gains in ear symptoms and reduced medical intervention post-BCHI. There was a statistically significant improvement in all GHSI scores post-BCHI (median total difference 67.1, p < 0.0001). This study reports very favorable outcomes for BCHI patients using two different PROMs: COMBI and GHSI. Although these PROMs complement each other, they also offer different perspectives on the same cohort of patients, with COMBI providing a unique insight into specific ear symptoms. This is the first reported study using this complement of PROMS in BCHI patients and offers further evidence for the wide-reaching improvements BCHI can have for patients.

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.

Development of a new patient-reported outcome measure for complex cryptoglandular fistulas (20-Item complex cryptoglandular fistula questionnaire™): a qualitative study

BackgroundThere are limited tools to measure the burden of disease and effectiveness of medical/surgical interventions in patients with cryptoglandular fistulas. The aim of this study was to explore concepts that are relevant and important to patients with complex cryptoglandular fistulas (CCF) and to develop a patient-centred, disease-specific, patient-reported outcome measure (PROM) to assess symptom burden and impacts of CCF.MethodsA targeted literature review was conducted, followed by one-to-one telephone interviews with five colorectal surgeons (USA, n = 3; UK, n = 1; Spain, n = 1) and 20 US adult patients with CCF to inform the development of a conceptual model and a CCF-specific PROM. The targeted literature review informed the development of the preliminary conceptual model and identified a PROM in the literature that was used as a reference to generate the draft CCF-specific PROM. The colorectal surgeon interviews provided insights on the experience of patients with CCF to refine the conceptual model, formulate probing questions for use in patient interviews, and to develop the draft CCF-specific PROM. Patients’ descriptions of their experiences with symptoms and the impacts on their lives and evaluation of the draft CCF-specific PROM in concept elicitation and cognitive interviews were used to develop the final conceptual model and final CCF-specific PROM.ResultsTen symptoms (odour, pain during bowel movement, abscess, post-operative pain, discharge/drainage/leakage, anal/perianal pain, inflammation/swelling, skin irritation, bleeding and itchiness) and 11 impacts (discomfort, inability to exercise, embarrassment, difficulty sitting, worry about disease, adapted life to maintain hygiene, negatively impacted social life/isolation, inability to perform daily activities, reduced interest in sex, negatively impacted intimate relationships and negatively impacted mood) were reported as most salient by patients. The patient experience, clinician perspective, and literature review provided input to item generation. Evaluation of relevance and patient understanding through cognitive interviews with patients provided evidence for the content validity of the new patient-reported outcome measure: the 20-item Complex Cryptoglandular Fistula Questionnaire™ (CCFQ-20™).ConclusionThe CCFQ-20™ is a new clinician-guided, patient-validated, disease-specific patient-reported outcome measure that measures disease impact and quality of life in patients with CCF.

Disability in cluster headache is more than attack frequency - results from and validation of the English version of the Cluster Headache Impact Questionnaire (CHIQ)

BackgroundCluster headache (CH) is associated with high disability. The Cluster Headache Impact Questionnaire (CHIQ) is a short, disease-specific disability questionnaire first developed and validated in German. Here, we validated the English version of this questionnaire.MethodsThe CHIQ was assessed together with nonspecific headache-related disability questionnaires in CH patients from a tertiary headache center and an American self-help group. Results155 active episodic and chronic CH patients were included. The CHIQ showed good internal consistency (Cronbach’s α = 0.91) and test-retest reliability (ICC = 0.93, n = 44). Factor analysis identified a single factor. Convergent validity was shown by significant correlations with the Headache Impact Test™ (HIT-6™, ρ = 0.72, p < 0.001), the Hospital Anxiety and Depression Scale (HADS depression: ρ = 0.53, HADS anxiety: ρ = 0.61, both p< 0.001), the Perceived Stress Scale (PSS-10, ρ = 0.61, p < 0.001) and with CH attack frequency (ρ = 0.29, p < 0.001). Chronic CH patients showed the highest CHIQ scores (25.4 ± 7.9, n = 76), followed by active episodic CH and episodic CH patients in remission (active eCH: 22.2 ± 8.7, n = 79; eCH in remission: 14.1 ± 13.1, n = 127; p < 0.001). Furthermore, the CHIQ was graded into 5 levels from “no to low impact” to “extreme impact” based on the patients’ perception. Higher CHIQ grading was associated with higher attack and acute medication frequency, HIT-6™, HADS and PSS scores.ConclusionThe English version of the CHIQ is a reliable, valid, and disease-specific patient-reported outcome measure to assess the impact of headaches on CH patients.

The development of a disease-specific patient-reported outcome measure (CARD-SARC) to assess the impact of cardiac sarcoidosis on health-related quality of life

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 was combined with the consensus-based standards for the selection of health measurement instruments (COSMIN) recommendations, involving three steps: item selection, item scaling and item reduction. The item-generation process used simultaneous triangulation (QUAN+qual) method, connecting quantitative data (theory, research findings and systematic review) with complementary qualitative components (interviews, clinical observations and experts’ opinion). The formatting of items was guided by patient and public involvement (PPI). 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 (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 used a robust methodology and active PPI involvement to develop the first disease-specific HRQoL tool for CS. The engagement and contributions of the PPI group in each step of the framework 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.

Discrepancy between global- and disease-specific outcome measures following lumbar spine surgery.

The aim of this study was to assess the correlation between patient-perceived changes in health and commonly utilized patient-reported outcome measures (PROMs) in lumbar spine surgery. This was a retrospective review of prospectively collected data on consecutive patients who underwent lumbar microdiscectomy, lumbar decompression, or lumbar fusion at a single academic institution from 2017 to 2023. Correlation between the global rating of change (GRC) questionnaire, a 5-item Likert scale (much better, slightly better, about the same, slightly worse, and much worse), and PROMs (Oswestry Disability Index, visual analog scale for back and leg pain, 12-Item Short Form Health Survey Physical Component Summary and Mental Component Summary, and PROMIS physical function) was assessed using Spearman's rank correlation coefficients. A total of 1871 patients (397 microdiscectomies, 965 decompressions, and 509 fusions) were included. A majority of patients in each group rated their lumbar condition as much better at each postoperative time point compared with preoperatively and reported improved health status at each postoperative time point compared with the previous follow-up visit. Statistically significant but weak to moderate correlations were found between GRC and change in PROM scores from the preoperative time point. Correlation between GRC and change in PROM scores from the prior visit showed some statistically significant correlations, but the strengths ranged from very weak to weak. A majority of patients undergoing lumbar microdiscectomy, decompression, or fusion endorsed notable improvements in health status in the early postoperative period and continued to improve at late follow-up. However, commonly used PROMs demonstrated very weak to moderate correlations with patient-perceived changes in overall lumbar spine-related health status as determined by GRC. Therefore, currently used PROMs may not be as sensitive at detecting these changes or may not be adequately reflecting changes in health conditions that are meaningful to patients undergoing lumbar spine surgery.

Effectiveness and safety of traditional herbal medicine on cardiac arrhythmic condition: A systematic review and meta-analysis of randomized control clinical trial.

The prevalence of cardiac arrhythmia, which can lead to cardiac death, heart failure, and cardioembolic stroke, is increasing. Although various Western medicines for cardiac arrhythmias have been developed, there are still various difficulties in the management of arrhythmias. Traditional herbal medicines (THM) are widely used to manage arrhythmia in East Asia. Therefore, this study aimed to assess the effectiveness and safety of THM in the treatment of arrhythmia. Using a systematic review methodology, we searched for randomized clinical trials on herbal medicines for arrhythmia without complications in 4 databases up to September 2022. The literature search was carried out again, targeting papers published until April 2024.We conducted a risk-of-bias assessment and meta-analysis. This study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Eighty-two randomized clinical trials were included in this meta-analysis. Total effective rate was significantly better in unspecified arrhythmia (risk ratio [RR]: 1.20, 95% confidence interval [CI]: 1.13-1.26), premature ventricular contraction (RR: 1.29, 95% CI: 1.29-1.33), sinus bradycardia (RR: 1.26, 95% CI: 1.17-1.36), tachycardia (RR: 1.23 95% CI: 1.15-1.32), and atrial fibrillation (RR: 1.17, 95% CI: 1.07-1.27). No severe adverse events were associated with THM. The overall risk of bias was relatively high. The total effective rate was the most frequently assessed clinical outcome variable. Most outcomes were surrogates and not clinical endpoints. THM, alone or in combination with Western medicine, has therapeutic effects on cardiac arrhythmic diseases. However, additional disease-specific clinical outcome variables are required for further studies on THM. Owing to the low quality of the included studies and their small sample sizes, additional large-scale, long-term follow-up, and well-designed randomized controlled clinical trials are required. Details of the protocol for this systematic review and meta-analysis were registered on the Open Science Framework (OSF. io). (https://osf.io/7r8kn/).

Validity, reliability, and responsiveness of the Brazilian version of the instrument World Health Organization Disability Assessment Schedule (WHODAS 2.0) for individuals with obstructive sleep apnoea

BackgroundObstructive sleep apnoea (OSA) is a disabling health condition, and there is no disease-specific patient-reported outcome instrument to assess individuals with OSA. ObjectivesTo evaluate the psychometric properties of the Brazilian version of the World Health Organization Disability Assessment Schedule (WHODAS 2.0) in individuals with OSA. MethodsOne hundred individuals with OSA responded to the WHODAS 2.0 version of 36 items, the Epworth Sleepiness Scale (ESS), the Pittsburgh Sleep Quality Index (PSQI), and the 12-item health survey (SF-12). Internal consistency, convergent and discriminative validity, and responsiveness to continuous positive airway pressure (CPAP) were the psychometric properties tested. ResultsCronbach's α values indicate good internal consistency (0.91 – 0.73), except for the self-care domain (α = 0.52). Convergent validity indicated an excellent correlation (r = -0.80) between the domains of functioning and quality of life. Discriminative validity showed no association between OSA severity and functioning (p = 0.90). The responsiveness to CPAP treatment showed a large effect size (r = 0.82; p < 0.05) ConclusionsThe WHODAS 2.0 instrument is valid, reliable, and responsive for assessing individuals with OSA.

Appendicular lean mass index and motor function in ambulatory patients with Duchenne muscular dystrophy.

Appendicular lean mass index (ALMI) has been linked to motor function in patients with Duchenne muscular dystrophy (DMD). However, quantification of the relationship between ALMI and disease-specific clinical outcome assessment trajectories is needed. The purpose of this study was to determine associations between dual-energy x-ray absorptiometry (DXA) derived estimates of ALMI and motor function in ambulatory patients with DMD. A retrospective analysis of longitudinal clinical visit data from 137 glucocorticoid-treated patients with DMD collected via structured motor assessment protocol evaluated associations between ALMI and motor function indexed by the North Star Ambulatory Assessment (NSAA) and 10 Meter Walk/run Test (10MWT). Body composition was assessed using DXA. ALMI was calculated by dividing arm and leg lean mass by height in m2; fat mass index (FMI) was calculated by dividing whole body fat mass by height in m2. Linear mixed-effects models were used to estimate associations between ALMI and motor function, controlling for age and FMI. The full prediction model (age, age,2 ALMI, and FMI) explained 57% of the variance in NSAA scores and 63% of the variance in 10MWT speed. A 1 kg/m2 higher ALMI value predicted a 5.4-point higher NSAA score (p < .001) and 0.45 m/s faster 10MWT speed (p < .001). A 1 kg/m2 higher FMI value predicted a 1.5-point lower NSAA score (p < .001) and 0.14 meters/second slower 10MWT speed (p < .001). DXA-derived estimates of ALMI and FMI are associated with motor function in DMD and may explain variation in DMD disease progression.

Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.

The Friedreich ataxia (FRDA) scientific community needs access to patient-centered outcome measures that satisfy regulatory guidelines and are capable of tracking clinically meaningful changes in FRDA disease burden. The objective of this research was to develop a novel, disease-specific caregiver-reported outcome measure for use in FRDA research and clinical care. In prior work, we conducted qualitative interviews and a cross-sectional study of FRDA caregivers and patients to determine the symptoms of greatest importance to individuals with FRDA. We designed the Friedreich Ataxia Caregiver-Reported Health Index (FACR-HI) to serially measure the symptoms of greatest importance to patients and utilized factor analysis, beta testing, reliability testing, and cross-sectional subgroup analysis to further evaluate and optimize this disease-specific outcome measure. The FACR-HI was designed to measure total disease burden and disease burden in 18 symptomatic domains. The FACR-HI total score demonstrated high internal consistency (Cronbach's α = 0.98) and test-retest reliability (intraclass correlation coefficient = 0.96). Beta interview participants found the FACR-HI to be highly relevant, comprehensive, and easy to use. FACR-HI total and subscale scores were associated with functional staging for ataxia scores and speech impairment. Initial evaluation of the FACR-HI supports its content validity, test-retest reliability, and construct validity as a caregiver-reported outcome measure for assessing how pediatric individuals with FRDA feel and function. The FACR-HI provides a potential mechanism to quantify changes in multifactorial FRDA disease burden during future clinical trials.

Surgically-relevant quality of life thresholds for the Short Inflammatory Bowel Disease Questionnaire in Crohn’s disease

Background or PurposeDespite interest in patient-reported outcome measures to track progression in Crohn’s disease, frameworks to apply these questionnaires in the preoperative setting are lacking. Using the short inflammatory bowel disease questionnaire (sIBDQ), this study aimed to describe interpretable quality of life thresholds and examine potential associations with future bowel resection in Crohn’s disease. MethodsAdult Crohn’s disease patients completing an sIBDQ at a clinic visit between 2020-2022 were eligible. A stoplight framework was adopted for sIBDQ scores, including a ‘Resection Red zone’ suggesting poor quality of life that may benefit from discussions about surgery as well as a ‘Nonoperative Green’ zone. Thresholds were identified with both anchor- and distribution-based methods using receiver operating characteristic curve analysis and subgroup percentile scores, respectively. To quantify associations between sIBDQ scores and subsequent bowel resection, multivariable logistic regression models were fit with covariates of age, sex, body mass index, medications, disease pattern and location, resection history, and the Harvey Bradshaw Index. Incremental discriminatory value of the sIBDQ beyond clinical factors was assessed through area under the receiver operating characteristics curve (AUC) with an internal validation through bootstrap resampling. ResultsOf 2003 included patients, 102 underwent Crohn’s-related bowel resection. The sIBDQ Nonoperative Green zone threshold ranged from 61 to 64 and the Resection Red zone from 36 to 38. When adjusting for clinical covariates, a worse sIBDQ score was associated with greater odds of subsequent 90-day bowel resection when considered as a one-point (OR [95% CI], 1.05 [1.03-1.07]) or five-point change (OR [95% CI], 1.25 [1.13-1.40]). Inclusion of the sIBDQ modestly improved discriminative performance (AUC [95% CI] 0.85 [0.85 – 0.86]) relative to models that included only demographics (0.57 [0.57 – 0.58]) or demographics with clinical covariates (0.83 [0.83 – 0.84]). Discussion or ConclusionIn the decision-making process for bowel resection, disease-specific patient-reported outcome measures may be useful to identify Crohn’s disease patients with poor quality of life and promote shared understanding of personalized burden.

Surgical Intervention is Associated with Improvement in Health-Related Quality of Life Outcomes in Patients with Symptomatic Sacral Tarlov Cysts: Results from a Prospective Longitudinal Cohort Study

The treatment of symptomatic Tarlov cysts remains a controversial topic within neurosurgery. We describe our experience with patients who underwent surgical intervention for sacral Tarlov cysts at a single institution. General and disease-specific outcome measures were used to assess health-related quality of life. Patients who underwent surgical treatment for one or more sacral Tarlov cysts between 2018 and 2021 were included. The Tarlov Cyst Quality of Life (TCQoL), a validated disease-specific measure, was the primary outcome of the study. Secondary outcomes included general outcome measures: 36-Item Short Form Survey, the Oswestry Disability Index, and Visual Analog Scale. Patients were followed at 3, 6, and 12 months postoperative. Repeated measures analyses were used to assess change from preoperative to 12 months postoperative. Data were obtained from 144 patients who underwent surgery for sacral Tarlov cysts, average age 52.3 ± 11.3 years, 90.3% female. Patients reported significant mean improvement on the TCQoL over time (preoperative 3.2±0.1; 3-months postoperative 2.1±0.1; 6-months 1.9±0.1; 12-months 1.9±0.1; P< 0.001). Patient age and duration of symptoms were not associated with outcome. 82.3% of patients reported improvement on TCQoL. There was not a significant difference in the proportion of patients reporting improvement on TCQoL by cyst size (small 90.9% vs. large 77.9%; P = 0.066). Our longitudinal series demonstrated patient-reported improvement following surgery for symptomatic sacral Tarlov cysts using a validated disease-specific health-related quality of life scale through 12 months following surgery. Patient age and preoperative duration of symptoms were not correlated with outcome.

Reliability and validity of the adapted Finnish version of the early onset scoliosis questionnaire (EOSQ-24)

BackgroundEOSQ-24 is a disease specific patient-reported outcome score used to assess the quality of life in patients with early-onset scoliosis. The aim of this study was to translate and cross-culturally adapt the English version of the EOSQ-24 to Finnish language and to assess the reliability and validity of the translation.MethodsCross-cultural adaptation and cross-cultural validation were performed to the Finnish translation of the EOSQ-24. Patients and/or their caretakers were then recruited to assess the psychometric properties of the translation. We assessed the internal consistency, test–retest reliability, floor and ceiling effects, and discriminative abilities. One-hundred-and-three patients filled the questionnaire.ResultsEOSQ-24 was successfully translated into Finnish. The translation showed excellent internal consistency (Cronbach alpha 0.94), satisfactory item-total correlations ranging from 0.6 to 0.9, and moderate to strong inter item correlations. Test–retest reliability ranged from 0.7 to 0.96 indicating good to excellent agreement. Patients with neuromuscular and syndromic scoliosis reported lower EOSQ-24 scores when compared to patients’ idiopathic and congenital scoliosis. There was a significant negative correlation between major curve and EOSQ-24 scores in patients with idiopathic early onset scoliosis.ConclusionThe internal consistency and test–retest reliability of the measure were found to be satisfactory. A marked ceiling effect was observed, indicating a potential source of error.

Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study

Purpose The Facioscapulohumeral Muscular Dystrophy Health Index (FSHD-HI) is a patient-reported outcome measure developed for patients with FSHD. This study aimed to translate the FSHD-HI into Japanese (FSHD-HI-J), evaluate cultural adaptation, and examine its psychometric properties. Materials and methods We created two forward translations, integrated them into a single Japanese version, and evaluated the back-translated version of the FSHD-HI. After finalizing the translation and cultural adaptation, we conducted a survey of 66 patients with FSHD to examine the reliability and validity of the FSHD-HI-J. For psychometric evaluations, we used Cronbach’s alpha to assess internal consistency, the intraclass correlation coefficient (ICC) for test-retest reliability, and assessed validity based on the associations between FSHD-HI-J, clinical variables, and quality of life measures. Results The FSHD-HI-J was found to be clinically relevant, indicating high internal consistency and test-retest reliability (ICC = 0.92 [95% confidence interval: 0.86-0.95] for the total score), as well as significant associations with clinical variables (D4Z4 repeats and functional impairment) and other quality of life measures (|rho| = 0.25-0.73). Conclusions The FSHD-HI-J is a valid and reliable patient-reported outcome measure for Japanese patients with FSHD. This validated, disease-specific patient-reported outcome is essential for future clinical practice and clinical trials.

Advancing Rheumatology Care Through Machine Learning.

Rheumatologic diseases are marked by their complexity, involving immune-, metabolic- and mechanically mediated processes which can affect different organ systems. Despite a growing arsenal of targeted medications, many rheumatology patients fail to achieve full remission. Assessing disease activity remains challenging, as patients prioritize different symptoms and disease phenotypes vary. This is also reflected in clinical trials where the efficacy of drugs is not necessarily measured in an optimal way with the traditional outcome assessment. The recent COVID-19 pandemic has catalyzed a digital transformation in healthcare, embracing telemonitoring and patient-reported data via apps and wearables. As a further driver of digital medicine, electronic medical record (EMR) providers are actively engaged in developing algorithms for clinical decision support, heralding a shift towards patient-centered, decentralized care. Machine learning algorithms have emerged as valuable tools for handling the increasing volume of patient data, promising to enhance treatment quality and patient well-being. Convolutional neural networks (CNN) are particularly promising for radiological image analysis, aiding in the detection of specific lesions such as erosions, sacroiliitis, or osteoarthritis, with several FDA-approved applications. Clinical predictions, including numerical disease activity forecasts and medication choices, offer the potential to optimize treatment strategies. Numeric predictions can be integrated into clinical workflows, allowing for shared decision making with patients. Clustering patients based on disease characteristics provides a personalized care approach. Digital biomarkers, such as patient-reported outcomes and wearables data, offer insights into disease progression and therapy response more flexibly and outside patient consultations. In association with patient-reported outcomes, disease-specific digital biomarkers via image recognition or single-camera motion capture enables more efficient remote patient monitoring.Digital biomarkers may also play a major role in clinical trials in the future as continuous, disease-specific outcome measurement facilitating decentralized studies. Prediction models can help with patient selection in clinical trials, such as by predicting high disease activity.Efforts are underway to integrate these advancements into clinical workflows using digital pathways and remote patient monitoring platforms.In summary, machine learning, digital biomarkers, and advanced imaging technologies hold immense promise for enhancing clinical decision support and clinical trials in rheumatology. Effective integration will require a multidisciplinary approach and continued validation through prospective studies.