Quantitative and Qualitative Exploration of Meaningful Change on the Vineland Adaptive Behavior Scales (Vineland™-II) in Children and Adolescents with Autism Without Intellectual Disability Following Participation in a Clinical Trial.

Purpose: The Vineland Adaptive Behavior Scale is often used in autism spectrum disorder (ASD) trials. The Adaptive Behavior Composite Score (VABS-ABC) is the standardized overall score (the average of the Socialization, Communication and Daily Living skills domains), and the standardized 2-Domain Composite Score (VABS-2DC) is a novel outcome measure (average of the Socialization and Communication domains). A within-person meaningful change threshold (MCT) has not been established for the VABS-2DC.

Qualitative Exploration in Exit Interviews of Changes Observed in Clinical Trials for Individuals with Autism Spectrum Disorder Without Intellectual Disability.

Purpose: To explore, from the perspective of Study Partners (SPs; eg, caregivers) of clinical trial participants with autism spectrum disorder (ASD), any changes experienced in socialization and communication over the clinical trial, how these changes manifested, and the impact these changes had on the autistic individual, the SP, and family. This helps interpret whether changes in trial outcomes were meaningful.

Patients And Methods: Interviews were conducted with the SPs of individuals with ASD, without intellectual disability, from 2 clinical trials: 86 children (aged 5-12 years) or adolescents (aged 13-17 years) who took part in the aV1ation trial (83.

Patient-reported disease impact of systemic lupus erythematosus with active joint symptoms: Results from the systemic lupus erythematosus-update survey.

Background: Many people with systemic lupus erythematosus (SLE) experience joint pain, swelling, and stiffness. These joint symptoms are associated with problems in physical functioning and work disability. We used survey data from adults with SLE to explore the burden and impact of joint symptoms.

Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.

Introduction: Frontotemporal dementia (FTD) is considered to be part of a continuum with amyotrophic lateral sclerosis (ALS). Many genes are associated with both ALS and FTD. Yet, many genes associated with ALS have not been shown to cause FTD.

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

The search for rare variants in Alzheimer's disease (AD) is usually deemed a high-risk - high-reward situation. The challenges associated with this endeavor are real. Still, the application of genome-wide technologies to large numbers of cases and controls or to small, well-characterized families has started to be fruitful.

Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.

Krabbe disease is an infantile neurodegenerative disorder resulting from pathogenic variants in the GALC gene that causes accumulation of the toxic sphingolipid psychosine. GALC variants are also associated with Lewy body diseases, an umbrella term for age-associated neurodegenerative diseases in which the protein α-synuclein aggregates into Lewy bodies. To explore whether α-synuclein in Krabbe disease has pathological similarities to that in Lewy body disease, we performed an observational post-mortem study of Krabbe disease brain tissue (n = 4) compared to infant controls (n = 4) and identified widespread accumulations of α-synuclein.

Factors Associated with the Development, Progression, and Outcome of Dupuytren Disease Treatment: A Systematic Review.

Background: The factors typically considered to be associated with Dupuytren disease have been described, such as those in the "Dupuytren diathesis." However, the quality of studies describing them has not been appraised. This systematic review aimed to analyze the evidence for all factors investigated for potential association with the development, progression, outcome of treatment, or recurrence of Dupuytren disease.

Routine provision of feedback from patient-reported outcome measurements to healthcare providers and patients in clinical practice.

Background: Patient-reported outcomes measures (PROMs) assess a patient's subjective appraisal of health outcomes from their own perspective. Despite hypothesised benefits that feedback  on PROMs can support decision-making in clinical practice and improve outcomes, there is uncertainty surrounding the effectiveness of PROMs feedback.

Objectives: To assess the effects of PROMs feedback to patients, or healthcare workers, or both on patient-reported health outcomes and processes of care.

Exploring the use of health and wellbeing measures during pregnancy and the first year following birth in women living with pre-existing long-term conditions: qualitative interviews with women and healthcare professionals.

Background: One way in which care for pregnant and postpartum women living with long-term health conditions (LTCs) may be improved is through the adoption of standardised measures to provide evidence of health outcomes and wellbeing from the woman's perspective.

Aim: The study explores the views of pregnant and postpartum women living with LTCs, and healthcare professionals to better understand the potential value of using standardised health and wellbeing measures within this patient population.

Methods: Qualitative semi-structured telephone interviews were conducted to explore the perceived value of using measures with pregnant and postpartum women living with LTCs within maternity services.

Improving the quality of person-centred healthcare from the patient perspective: development of person-centred quality indicators.

Importance: International efforts are being made towards a person-centred care (PCC) model, but there are currently no standardised mechanisms to measure and monitor PCC at a healthcare system level. The use of metrics to measure PCC can help to drive the changes needed to improve the quality of healthcare that is person centred.

Objective: To develop and validate person-centred care quality indicators (PC-QIs) measuring PCC at a healthcare system level through a synthesis of the evidence and a person-centred consensus approach to ensure the PC-QIs reflect what matters most to people in their care.

Genetics of synucleins in neurodegenerative diseases.

The SNCA locus currently has an indisputable role in Parkinson's disease and other synucleinopathies. The role of genetic variability in the other members of the synuclein family (SNCB and SNCG) in disease is far less clear. In this review, we critically assess the pathogenicity, main characteristics, and roles of genetic variants in these genes reported to be causative of synucleinopathies.

Genetic architecture of common non-Alzheimer's disease dementias.

Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia (VaD) are the most common forms of dementia after Alzheimer's disease (AD). The heterogeneity of these disorders and/or the clinical overlap with other diseases hinder the study of their genetic components. Even though Mendelian dementias are rare, the study of these forms of disease can have a significant impact in the lives of patients and families and have successfully brought to the fore many of the genes currently known to be involved in FTD and VaD, starting to give us a glimpse of the molecular mechanisms underlying these phenotypes.

How do frontline staff use patient experience data for service improvement? Findings from an ethnographic case study evaluation.

Objectives: Improving patient experience is widely regarded as a key component of health care quality. However, while a considerable amount of data are collected about patient experience, there are concerns this information is not always used to improve care. This study explored whether and how frontline staff use patient experience data for service improvement.

Systematic Review of Patient-Reported Outcome Measures in Graft-versus-Host Disease.

Graft-versus-host disease (GVHD) is a major cause of morbidity and mortality after allogeneic stem cell transplantation. These patients face a unique challenge due to the complexity of GVHD and the toxicity of treatments received. GVHD has significant impact on quality of life (QOL), but this is not routinely evaluated formally.

The Arthroplasty Candidacy Help Engine tool to select candidates for hip and knee replacement surgery: development and economic modelling.

Background: There is no good evidence to support the use of patient-reported outcome measures (PROMs) in setting preoperative thresholds for referral for hip and knee replacement surgery. Despite this, the practice is widespread in the NHS.

Objectives/research Questions: Can clinical outcome tools be used to set thresholds for hip or knee replacement? What is the relationship between the choice of threshold and the cost-effectiveness of surgery?

Methods: A systematic review identified PROMs used to assess patients undergoing hip/knee replacement.

Development of an International Standard Set of Value-Based Outcome Measures for Patients With Chronic Kidney Disease: A Report of the International Consortium for Health Outcomes Measurement (ICHOM) CKD Working Group.

Value-based health care is increasingly promoted as a strategy for improving care quality by benchmarking outcomes that matter to patients relative to the cost of obtaining those outcomes. To support the shift toward value-based health care in chronic kidney disease (CKD), the International Consortium for Health Outcomes Measurement (ICHOM) assembled an international working group of health professionals and patient representatives to develop a standardized minimum set of patient-centered outcomes targeted for clinical use. The considered outcomes and patient-reported outcome measures were generated from systematic literature reviews.

Identifying Canadian patient-centred care measurement practices and quality indicators: a survey.

Background: Patient-centred quality indicators allow health care systems to monitor and evaluate patient-centred care practices and identify gaps in health care quality. Our objective was to determine whether Canadian provinces and territories measure patient-centred care, identify patient-centred quality indicators currently being used and compare patient-centred care practices and measurement in Canada to those of health care systems in other countries.

Methods: An online survey was developed to collect data on demographic characteristics, patient-centred care practices, and indicators used at quality improvement organizations and health care authorities.

How do patient reported outcome measures (PROMs) support clinician-patient communication and patient care? A realist synthesis.

Background: In this paper, we report the findings of a realist synthesis that aimed to understand how and in what circumstances patient reported outcome measures (PROMs) support patient-clinician communication and subsequent care processes and outcomes in clinical care. We tested two overarching programme theories: (1) PROMs completion prompts a process of self-reflection and supports patients to raise issues with clinicians and (2) PROMs scores raise clinicians' awareness of patients' problems and prompts discussion and action. We examined how the structure of the PROM and care context shaped the ways in which PROMs support clinician-patient communication and subsequent care processes.

An alternative approach to implementing patient-reported outcome measures.

Background: Obtaining patients' views of their health and outcomes of interventions utilising patient-reported outcome measures (PROMs) is a well-established method, but there is still uncertainty about the impact of PROMs on services and patient care. Studies are now needed of alternative ways of implementing PROMs. This paper describes a case study of the introduction of a new PROM to assess musculoskeletal (MSK) problems, known as the Musculoskeletal Health Questionnaire (MSK-HQ).

Quality of life and burden of morbidity in primary care users with multimorbidity.

Purpose: The aim of this study was to assess the quality of life, number of diseases and burden of morbidity of multimorbid primary care users and whether a simple disease count or a multimorbidity burden score is more predictive of quality of life.

Patients And Methods: Primary care patients with at least 1 of 11 specified chronic conditions were invited to participate in a postal survey. Participants completed the Disease Burden Impact Scale (DBIS) questionnaire, the five dimension-five level Euro-Qol (EQ-5D-5L) and standard demographics questions.