The challenges of classical galactosemia: HRQoL in pediatric and adult patients.

BACKGROUND: Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower motor-, cognitive- and social health related quality of life (HRQoL) was demonstrated in pediatric and adult patients. Since then, the diet has been relaxed, newborn screening was implemented and new international guidelines resulted in major changes in follow-up. The aim of this study was to assess HRQoL of CG by means of online self- and/or proxy-HRQoL-questionnaires focusing on the main areas of concern of CG (i.e. anxiety, depression, cognition, fatigue, social- and upper extremity function) within the patient-reported outcomes measurement information system (PROMIS®) and generic HRQoL-questionnaires (TAPQOL, TACQOL, TAAQOL). RESULTS: Data of 61 Dutch patients (aged 1-52 years) were collected and compared to available Dutch or US reference populations. On the PROMIS-questionnaires, children reported more fatigue (P = 0.044), lower function in upper extremities (P = 0.021), more cognitive difficulties (P = 0.055, d = 0.56) and higher anxiety (P = 0.063, d = 0.52) than reference children although the latter findings remained non-significant. Parents of CG patients reported lower quality of peer relationships of their children (P < 0.001). Both children and parents reported lower cognitive functioning (P = 0.005, P = 0.010) on the TACQOL. Adults reported on PROMIS domains lower cognitive functioning (P = 0.030), higher anxiety (P = 0.004) and more fatigue (P = 0.026). Cognitive difficulties were reported on the TAAQOL by adults (P < 0.001), as well as physical-, sleeping and social difficulties. CONCLUSIONS: CG remains to impact the HRQoL of pediatric and adult patients negatively on several domains including cognition, anxiety, motor function and fatigue. A lower social health was mainly reported by parents, and not by patients themselves. The Covid-19 pandemic might have amplified the results on anxiety although higher levels of anxiety fit pre-pandemic findings. The reported fatigue is a new finding in CG. Because the effect of lockdown fatigue could not be eliminated and fatigue is a frequent finding in patients with chronic disorders, future studies are warranted. Clinicians and researchers should be attentive to both pediatric and adult patients, and the age-dependent difficulties they might encounter.

Defining a Patient-Centred Core Outcome Domain Set for the Assessment of Hearing Rehabilitation With Clients and Professionals.

Background: A variety of outcome domains are currently measured for the assessment of hearing rehabilitation. To date, there is no consensus about which outcome domains should be measured, when they should be measured, and how they should be measured. In addition, most studies seeking to develop core outcome sets and measures for hearing rehabilitation services have primarily focussed on the opinions and expertise of researchers, and, to a lesser extent, clinicians, rather than also involving clients of those services. The principles of experience-based co-design suggest that health services, researchers, and policymakers should come together with clients and their families to design health services and define what metrics should be used for their success. Objectives: This study aimed to seek views and consensus from a range of key stakeholders to define which client-centred self-report outcome domains should be measured, when they should be measured, and how they should be measured, in a national publicly funded hearing rehabilitation scheme. In addition, the study aimed to identify current and future potential mechanisms and systems to standardise the collection of data and reporting of outcomes, to enable comparison across clients and hearing service providers. Methods: Two stakeholder groups participated in a three-round online Delphi process: (1) 79 professional stakeholders involved in the delivery of hearing services in Australia, and (2) 64 hearing rehabilitation services' clients identified by not-for-profit consumer organisations. An initial set of in-person workshops scoped the key issues upon which to develop the initial open-ended questions and subsequent Likert-scale statements addressing these issues. These statements were then distributed to both groups in an online survey. The respondent ratings were summarised, and the summary was returned to respondents along with a second round of the survey. This process was then repeated once more. The five most important outcome domains from both groups were then combined, and a consensus workshop of seven professionals and three client advocates agreed on the top four ranked domains. Results: A range of potential outcome domains were identified as relevant indicators of successful hearing rehabilitation. Communication ability, personal relationships, wellbeing, and participation restrictions were identified as a core outcome domain set that should be measured as a minimum for patients receiving hearing rehabilitation. There was little agreement on the preferred timepoints for collection of outcome measures, with respondents expressing the view that this should be established by research once a set of outcome measures has been selected. However, there was broad agreement that measurements of these domains should be collected at baseline (before the provision of hearing rehabilitation) and no earlier than 3 months following the completion of rehabilitation. Potential benefits and issues with the development of a national outcomes database/collection system were also identified and prioritised, with participants highlighting the importance of valid, high-quality, trustworthy, and comprehensive data collection. Conclusion: These results provide a Core Outcome Domain Set for the self-reported evaluation of hearing rehabilitation and provide important background information for the design of methods to implement them across hearing healthcare systems. However, the wide range of outcome domains identified as potentially providing important additional information and the lack of specific measures to address these domains strongly suggest that there is still more research to be done. Ongoing stakeholder engagement will continue to be vital for future implementation. In addition, further research is required to determine the optimal time following hearing rehabilitation to utilise any particular outcome measure.

Feasibility of using a patient-reported outcome measure into clinical practice following pediatric liver transplantation: The Starzl Network experience.

BACKGROUND: Patient-reported outcome measures (PROMs) are not routinely used in clinical care by pediatric liver transplant (LT) teams. The Starzl Network for Excellence in Pediatric Transplantation (SNEPT) assessed feasibility of using a disease-specific Quality of Life (QoL) questionnaire in the ambulatory setting at 10 SNEPT sites. METHODS: A mixed methods feasibility project assessing administration processes, barriers, and user experiences with the Pediatric Liver Transplant Quality of Life (PeLTQL) tool. Iterative processes sought stakeholder feedback across four phases (Pilot, Extended Pilot, Development of a Mobile App PeLTQL version, and Pilot App use). RESULTS: A total of 149 patient-parent dyads completed the PeLTQL during LT clinic follow-up. Clinicians, parents, and patients evaluated and reported on feasibility of operationalization. Only two of 10 SNEPT sites continued PeLTQL administration after the initial two pilot phases. Reasons include limited clinical time and available personnel aggravated by the COVID-19 pandemic. In response, a mobile application version of the PeLTQL was initiated. Providing PeLTQL responses electronically was "very easy" or "easy" as reported by 96% (22/23) parents. CONCLUSIONS: Administration of a PROM into post-pediatric LT clinical care was feasible, but ongoing utilization stalled. Use of a mobile app towards facilitating completion of the PeLTQL outside of clinic hours may address the time and work-flow barriers identified.

Italian Translation, Adaptation, and Validation of the Novel Satisfaction Measure Assessment after Primary Total Joint Arthroplasty: The Goodman Score Questionnaire.

Patient satisfaction after total joint arthroplasties (TJA) represents a key element for the evaluation of surgery success in relation to subjects' needs and expectations. The assessment tools are applied inconsistently throughout the literature, and thus, it is difficult to compare results among different studies. Goodman et al. proposed a standardized questionnaire with strong psychometric properties for the assessment of satisfaction. The present study aims to translate, adapt, and validate the Goodman questionnaire for the Italian population. After translation and back translation, the questionnaire was administrated to 50 patients. Internal consistency, test-retest reliability, floor and ceiling effects, and construct validity were evaluated (correlation with KOOS/HOOS, SF-12 PCS/MCS, EQ-5D). Responsiveness was evaluated with respect to SF-12 PCS improvements. The Italian version of the Goodman score questionnaire demonstrated psychometric properties similar to those of the original version. The translated questionnaire showed good internal consistency (Cronbach's alpha = 0.836) and test-retest reliability (ICC: 0.507). Moderate/strong correlations were observed between the Italian version of the Goodman score and other scores. The score significantly discriminated patients who improved from those who did not improve in SF-12 PCS after treatment. This study provides an adapted and validated Italian version of the Goodman score questionnaire, with psychometric properties similar to those of its original counterpart.

Documenting the Impact of Infra Low Frequency Neurofeedback on Underserved Populations With Complex Clinical Presentations.

There is a crisis in mental health. The demand for services is huge; the efficacy of current services is lacking, and the traditional path to developing effective treatments is not working. This paper describes an approach based on implementing infra low frequency (ILF) neurofeedback in agencies that work with the underserved and collecting data on client's concerns, behavior, quality of life and cognitive performance. We also track session-by-session changes in client concerns and their relation to ILF neurofeedback protocols. Results are reviewed for over 300 clients who have been seen in such agencies. Limitations and future directions are discussed for this model.

Patient Satisfaction With Care Is Associated With Better Outcomes in Function and Pain 1 Year After Lumbar Spine Surgery.

PURPOSE: There has been increasing interest in patient-reported experience measures (PREMs) to evaluate the patient experience and satisfaction with care. We conducted a prospective multicenter cohort study to determine any association between patients' satisfaction of care and their outcomes 1 year after lumbar spine surgery. METHODS: Satisfaction with care was recorded through telephone interviews and a standardized questionnaire. Baseline data collection (300 patients) and 1-year follow-up (209 patients) were conducted through The Swedish National Register for Spine Surgery (Swespine). Exposures were patient experiences, health care professional (HCP) attitudes, shared decision-making, and overall satisfaction with care. Associations were evaluated using adjusted analysis of covariance (ANCOVA) models. RESULTS: Satisfaction with HCP attitudes was not associated with improvements at 1 year in Oswestry Disability Index (ODI) or back pain; however a significantly greater improvement in leg pain score was reported by patients who were highly satisfied (3.0 points) versus the moderate/low satisfaction group (1.3 points; P=0.008). For shared decision-making, high satisfaction was associated with significantly greater improvements, as compared to moderate/low satisfaction, in ODI (20 vs 11 points; P=0.001), back pain (2.6 vs 1.7 points; P=0.05), and leg pain (3.2 vs 1.9 points, P=0.007). Similarly, high overall satisfaction with care was associated with significantly greater improvements in ODI (18 vs 10 points; P=0.02), back pain (3.2 vs 0.6 points; P<0.001), and leg pain (2.6 vs 1.1 points; P=0.009). CONCLUSIONS: Findings indicate that shared decision-making on perioperative care and patients' overall satisfaction with care were associated with better health outcomes 1 year after lumbar spine surgery.

Electronic Patient-Reported Outcomes in Nephrology: Focus on Hemodialysis.

The success of hemodialysis (HD) treatments has been evaluated using objective measures of analytical parameters, or machine-measured parameters, despite having available validated instruments that assess patient perspective. There is an emerging interest regarding the use and relevance of patient-related outcomes (PROs). Electronic PROs (ePROs) involve the use of electronic technology, provide rapid access to this information, and are becoming more widely used in clinical trials and studies to evaluate efficacy and safety. Despite the scarce literature, this review suggests that ePROs are useful in providing a more customized and multidimensional approach to patient management and in making better clinical decisions in relevant aspects such as vascular access, duration and frequency of dialysis sessions, treatment of anemia, mental health, fatigue, and quality of life. The purpose of this review is to raise interest in the systematic use of ePROs in HD and to promote the development of studies in this field, which can respond to the gaps in knowledge and contribute to the implementation of the use of ePROs through new technologies, helping to improve the quality of health care.

Assessment of Patient Reported Outcomes (PROs) in Outpatients Taking Oral Anticancer Drugs Included in the Real-Life Oncoral Program.

Background In previous studies, patient-reported outcomes (PROs) have been shown to improve survival in cancer patients. The aim of the present study was to assess symptoms potentially related to adverse events experienced by cancer outpatients treated by oral anticancer agents (OAAs) using PROs. Methods Between September 2018 and May 2019, outpatients starting OAAs were included in a 12-week follow-up to assess 15 symptoms listed in the National Cancer Institute PRO Common Terminology Criteria for Adverse Events, using a 5-point scale of severity or frequency. Patients were requested to alert a referral nurse or pharmacist when they self-assessed high-level (level 3 or 4) symptoms. Results 407 questionnaires were completed by 63 patients in which 2333 symptoms were reported. Almost three-quarters (74.6%) reported at least one high-level symptom. The symptoms that were most commonly experienced were fatigue (>9 in 10 patients; 13.2% of symptoms declared), various psychological disorders (>9 in 10 patients; 28.6% of symptoms declared) and general pain (>8 in 10 patients; 9.4% of symptoms declared). Conclusion PROs are appropriate to detect potential adverse events in cancer outpatients treated by OAAs. This study is the first step for integrating the patient's perspective in a digital e-health device in routine oncology care.

Patient-related outcomes in patients referred to a respiratory clinic with persisting symptoms following non-hospitalised COVID-19.

Survivors of COVID-19 can present with varied and persisting symptoms, regardless of hospitalisation. We describe the ongoing symptoms, quality of life and return to work status in a cohort of non-hospitalised COVID-19 survivors with persisting respiratory symptoms presenting to clinic, who consented and completed patient-reported outcome measures. We identified fatigue, reduced quality of life and dysregulated breathing alongside the breathlessness. Those with co-existent fatigue had worse mood and quality of life and were less likely to have returned to normal working arrangements compared to those without fatigue. For non-hospitalised people with persisting symptoms following COVID-19 referred to a respiratory assessment clinic, there was a need for a wider holistic assessment, including return to work strategies.

A Patient-Reported Outcome Tool to Triage Total Hip Arthroplasty Patients to Hospital or Video Consultation: Pilot Study With Expert Panels and a Cohort of 1228 Patients.

BACKGROUND: The digital transformation in health care has been accelerated by the COVID-19 pandemic. Video consultation has become the alternative for hospital consultation. It remains unknown how to select patients suitable for video consultation. OBJECTIVE: This study aimed to develop a tool based on patient-reported outcomes (PROs) to triage total hip arthroplasty (THA) patients to hospital or video consultation. METHODS: A pilot study with expert panels and a retrospective cohort with prospectively collected data from 1228 THA patients was executed. The primary outcome was a PRO triage tool to allocate THA patients to hospital or video consultation 6 weeks postoperatively. Expert panels defined the criteria and selected the patient-reported outcome measure (PROM) questions including thresholds. Data were divided into training and test cohorts. Distribution, floor effect, correlation, responsiveness, PRO patient journey, and homogeneity of the selected questions were investigated in the training cohort. The test cohort was used to provide an unbiased evaluation of the final triage tool. RESULTS: The expert panels selected moderate or severe pain and using 2 crutches as the triage tool criteria. PROM questions included in the final triage tool were numeric rating scale (NRS) pain during activity, 3-level version of the EuroQol 5 dimensions (EQ-5D-3L) questions 1 and 4, and Oxford Hip Score (OHS) questions 6, 8, and 12. Of the training cohort, 201 (201/703, 28.6%) patients needed a hospital consultation, which was statistically equal to the 150 (150/463, 32.4%) patients in the test cohort who needed a hospital consultation (P=.19). CONCLUSIONS: A PRO triage tool based on moderate or severe pain and using 2 crutches was developed. Around 70% of THA patients could safely have a video consultation, and 30% needed a hospital consultation 6 weeks postoperatively. This tool is promising for selecting patients for video consultation while using an existing PROM infrastructure.

A Short Report Examining the Introduction of Routine Use of Patient-Reported Outcome Measures in a Mixed Oncology Population.

AIMS: People living with treatable but not curable cancer often experience a range of symptoms related to their cancer and its treatment. During the COVID-19 pandemic, face-to-face consultations were reduced and so remote monitoring of these needs was necessary. University Hospitals Sussex implemented the routine use of electronic remote patient-reported outcome measures (PROMs) in a mixed oncology population, focusing on those with treatable but not curable cancers. MATERIALS AND METHODS: Over a 9-month period, patients were invited to register with My Clinical Outcomes (MCO) - a secure online platform for the collection of electronic PROMs. They were prompted by e-mail to complete assessments (EORTC QLQ-C30, EQ-5D-3L and EQ-5D VAS) routinely every 2 weeks. The team monitored patient scores and changes in these prompted clinical interventions. RESULTS: In total, 324 patients completed at least one assessment. The median number of assessments completed by each patient was eight. The most represented tumour groups were secondary breast (28%), prostate (25%) and other (32%). Median scores for the assessments did not deteriorate in a clinically or numerically significant way for patients living with non-curable conditions for the majority of patients monitored. CONCLUSION: Routine collection of electronic remote PROMs is an effective and useful strategy to provide real-time clinical feedback to teams. With integration into existing systems, online platforms (such as MCO) could provide efficient and patient-centred information for those providing care for people with cancer.

Current and future use of telemedicine in surgical clinics during and beyond COVID-19: A narrative review.

INTRODUCTION: Telemedicine has emerged as a powerful tool in the delivery of healthcare to surgical patients and enhances clinician-patient encounters during all phases of patient care. Our study aims were: to review the current use and applicability of telemedicine; evaluate its suitability, safety and effectiveness in a surgical outpatient setting, particularly in the era of social distancing restrictions and provide insight into future applications. METHODS: Databases searched included: PubMed, OVID Medline, Embase, Scopus, Web of Science and review of reference lists. Key words used were "telemedicine"; "telehealth"; "videoconference"; "outpatient" and "surgical clinic". For inclusion, articles required to be in English, published between 2000 and 2021, were in an outpatient surgical setting and if they had a focus during the COVID-19 pandemic. RESULTS: 335 articles were identified and screened, so that 63 articles were included in the review. Almost all articles were from Western countries (n = 60), mostly in surgical journals (n = 35) and from a range of sub-specialities, but pre-dominantly orthopaedics (n = 12) and general surgery (n = 7). The majority were original comparative studies where 31 studies directly compared telemedicine to in-person appointments and 14 papers focused on implementation during COVID-19. DISCUSSION/CONCLUSIONS: Telemedicine has been safely used across various phases of surgical outpatient care, with its effectiveness evaluated by clinical outcomes, economics and user/provider satisfaction. Telemedicine has multiple accepted benefits including time efficiency, patient/healthcare cost savings and community access, but with reported limitations of clinical uncertainty, technology infrastructure requirements, cybersecurity vulnerabilities and healthcare regulatory restraints. These limitations are being overcome by accelerated implementation during COVID-19 via fast-tracked practice development. Further work is required via development of research protocols to refine the application of emerging telemedicine technologies and their applicability to different surgical sub-specialties.

Symptom and needs assessment screening in oncology patients: Alternate outreach methods during COVID-19.

Patients with cancer are ideally screened for symptoms, including distress, using patient-reported outcome measures (PROMs). This initiative was developed to ensure patients without access to an electronic portal were screened for distress and related symptoms during the COVID-19 pandemic. Prior to the pandemic, these patients could complete screening in clinic. However, many visits transitioned to telehealth. We implemented a standardized telephone outreach process targeting patients without active electronic portal accounts to improve remote symptom monitoring. Outreach resulted in 172 completed screens, identifying 110 needs for 63 individuals. Twenty-eight patients completed patient portal enrollment. Outreach calls captured a higher percentage of Black patients (34%) and a higher percentage of 61-80 year olds (69%) compared to portal users. Telephone outreach during the pandemic captured data that otherwise would have been missed in elderly and minority patients without electronic patient portal access. Patient engagement is vital to the distress screening process.

Famotidine use and quantitative symptom tracking for COVID-19 in non-hospitalised patients: a case series.

OBJECTIVE: Treatment options for non-hospitalised patients with coronavirus disease 2019 (COVID-19) to reduce morbidity, mortality and spread of the disease are an urgent global need. The over-the-counter histamine-2 receptor antagonist famotidine is a putative therapy for COVID-19. We quantitively assessed longitudinal changes in patient reported outcome measures in non-hospitalised patients with COVID-19 who self-administered high-dose famotidine orally. DESIGN: Patients were enrolled consecutively after signing written informed consent. Data on demographics, COVID-19 diagnosis, famotidine use, drug-related side effects, temperature measurements, oxygen saturations and symptom scores were obtained using questionnaires and telephone interviews. Based on a National Institute of Health (NIH)-endorsed Protocol to research Patient Experience of COVID-19, we collected longitudinal severity scores of five symptoms (cough, shortness of breath, fatigue, headaches and anosmia) and general unwellness on a four-point ordinal scale modelled on performance status scoring. All data are reported at the patient level. Longitudinal combined normalised symptom scores were statistically compared. RESULTS: Ten consecutive patients with COVID-19 who self-administered high-dose oral famotidine were identified. The most frequently used famotidine regimen was 80 mg three times daily (n=6) for a median of 11 days (range: 5-21 days). Famotidine was well tolerated. All patients reported marked improvements of disease related symptoms after starting famotidine. The combined symptom score improved significantly within 24 hours of starting famotidine and peripheral oxygen saturation (n=2) and device recorded activity (n=1) increased. CONCLUSIONS: The results of this case series suggest that high-dose oral famotidine is well tolerated and associated with improved patient-reported outcomes in non-hospitalised patients with COVID-19.