Estimation of Gait Parameters in Huntington's Disease Using Wearable Sensors in the Clinic and Free-living Conditions.

In Huntington's disease (HD), wearable inertial sensors could capture subtle changes in motor function. However, disease-specific validation of methods is necessary. This study presents an algorithm for walking bout and gait event detection in HD using a leg-worn accelerometer, validated only in the clinic and deployed in free-living conditions. Seventeen HD participants wore shank- and thigh-worn tri-axial accelerometers, and a wrist-worn device during two-minute walk tests in the clinic, with video reference data for validation. Thirteen participants wore one of the thigh-worn tri-axial accelerometers (AP: ActivPAL4) and the wrist-worn device for 7 days under free-living conditions, with proprietary AP data used as reference. Gait events were detected from shank and thigh acceleration using the Teager-Kaiser energy operator combined with unsupervised clustering. Estimated step count (SC) and temporal gait parameters were compared with reference data. In the clinic, low mean absolute percentage errors were observed for stride (shank/thigh: 0.6/0.9%) and stance (shank/thigh: 3.3/7.1%) times, and SC (shank/thigh: 3.1%). Similar errors were observed for proprietary AP SC (3.2%), with higher errors observed for the wrist-worn device (10.9%). At home, excellent agreement was observed between the proposed algorithm and AP software for SC and time spent walking (ICC [Formula: see text]). The wrist-worn device overestimated SC by 34.2%. The presented algorithm additionally allowed stride and stance time estimation, whose variability correlated significantly with clinical motor scores. The results demonstrate a new method for accurate estimation of HD gait parameters in the clinic and free-living conditions, using a single accelerometer worn on either the thigh or shank.

Assessment of Fitbit Charge 4 for sleep stage and heart rate monitoring against polysomnography and during home monitoring in Huntington's disease.

STUDY OBJECTIVES: Wearable devices that monitor sleep stages and heart rate offer the potential for longitudinal sleep monitoring in patients with neurodegenerative diseases. Sleep quality reduces with disease progression in Huntington's disease (HD). However, the involuntary movements characteristic of HD may affect the accuracy of wrist-worn devices. This study compares sleep stage and heart rate data from the Fitbit Charge 4 (FB) against polysomnography (PSG) in participants with HD. METHODS: Ten participants with manifest HD wore an FB during overnight hospital-based PSG, and 9 of these participants continued to wear the FB for 7 nights at home. Sleep stages (30-second epochs) and minute-by-minute heart rate were extracted and compared against PSG data. RESULTS: FB-estimated total sleep and wake times and sleep stage times were in good agreement with PSG, with intraclass correlations of 0.79-0.96. However, poor agreement was observed for wake after sleep onset and the number of awakenings. FB detected waking with 68.6 ± 15.5% sensitivity and 93.7 ± 2.5% specificity, rapid eye movement sleep with high sensitivity and specificity (78.7 ± 31.9%, 95.6 ± 2.3%), and deep sleep with lower sensitivity but high specificity (56.4 ± 28.8%, 95.0 ± 4.8%). FB heart rate was strongly correlated with PSG, and the mean absolute error between FB and PSG heart rate data was 1.16 ± 0.42 beats/min. At home, longer sleep and shorter wake times were observed compared with hospital data, whereas percentage sleep stage times were consistent with hospital data. CONCLUSIONS: Results suggest the potential for long-term monitoring of sleep patterns using wrist-worn wearable devices as part of symptom management in HD. CITATION: Doheny EP, Renerts K, Braun A, et al. Assessment of Fitbit Charge 4 for sleep stage and heart rate monitoring against polysomnography and during home monitoring in Huntington's disease. J Clin Sleep Med. 2024;20(7):1163-1171.

Language-Independent Acoustic Biomarkers for Quantifying Speech Impairment in Huntington's Disease.

PURPOSE: Changes in voice and speech are characteristic symptoms of Huntington's disease (HD). Objective methods for quantifying speech impairment that can be used across languages could facilitate assessment of disease progression and intervention strategies. The aim of this study was to analyze acoustic features to identify language-independent features that could be used to quantify speech dysfunction in English-, Spanish-, and Polish-speaking participants with HD. METHOD: Ninety participants with HD and 83 control participants performed sustained vowel, syllable repetition, and reading passage tasks recorded with previously validated methods using mobile devices. Language-independent features that differed between HD and controls were identified. Principal component analysis (PCA) and unsupervised clustering were applied to the language-independent features of the HD data set to identify subgroups within the HD data. RESULTS: Forty-six language-independent acoustic features that were significantly different between control participants and participants with HD were identified. Following dimensionality reduction using PCA, four speech clusters were identified in the HD data set. Unified Huntington's Disease Rating Scale (UHDRS) total motor score, total functional capacity, and composite UHDRS were significantly different for pairwise comparisons of subgroups. The percentage of HD participants with higher dysarthria score and disease stage also increased across clusters. CONCLUSION: The results support the application of acoustic features to objectively quantify speech impairment and disease severity in HD in multilanguage studies. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25447171.

Wearable activity monitors to support physical activity interventions in neurodegenerative disease: a feasibility study.

Aim: To evaluate the feasibility of using activity monitors in a physical activity (PA) intervention in people with Parkinson's (PD) and Huntington's disease (HD). Materials & methods: People with early-stage PD (n = 13) and HD (n = 14) enrolled in a 4-month coaching program, wore a Fitbit, and were guided through a behavioral intervention to facilitate PA uptake. Wear time, wear habits and activity metrics (e.g., steps) were analyzed. Results: Retention rate was 85% and participants had an average 92.3% (±9.2) valid wear days. Daily wear time was 18.4 (±4.5) h. Day & night Fitbit wearers showed improvements in steps (d = 1.02) and MET×min/week (d = 0.69) compared with day-only wearers. Conclusion: Implementing wearables in a coaching intervention was feasible and provided insights into PA behavior.

Barriers to participation in tourism linked respite care.

Successive interventions designed to curb the spread of COVID-19 have all served to exacerbate the demands placed upon informal carers, a population indispensable to health care systems. The need for breaks from caring has never been so pronounced. This paper adopts, and extends, the theory of hierarchical leisure constraints to better understand barriers to tourism respite participation. Lived experiences are collected via story-telling techniques (n = 157) from carers taking trips of one night or more away during times of palliative and end-of-life care. Three cross-cutting constraints are emergent in the data: awareness (knowing); access (doing); and anxiety (feeling). Negotiation strategies are suggested, hierarchical implications questioned and the opportunity to explore a temporal dimension to tourism constraints in future research signalled.

Physical activity and exercise outcomes in Huntington's disease (PACE-HD): results of a 12-month trial-within-cohort feasibility study of a physical activity intervention in people with Huntington's disease.

INTRODUCTION: While physical activity (PA) is recognized as important in Huntington's disease (HD) disease management, there has been no long-term evaluation undertaken. We aimed to evaluate the feasibility of a nested (within cohort) randomized controlled trial (RCT) of a physical therapist-led PA intervention. METHODS: Participants were recruited from six HD specialist centers participating in the Enroll-HD cohort study in Germany, Spain and U.S. Assessments were completed at baseline and 12 months and linked to Enroll-HD cohort data. Participants at three sites (cohort) received no contact between baseline and 12 month assessments. Participants at three additional sites (RCT) were randomized to PA intervention or control group. The intervention consisted of 18 sessions delivered over 12 months; control group participants received no intervention, however both groups completed monthly exercise/falls diaries and 6-month assessments. RESULTS: 274 participants were screened, 204 met inclusion criteria and 116 were enrolled (59 in cohort; 57 in RCT). Retention rates at 12-months were 84.7% (cohort) and 79.0% (RCT). Data completeness at baseline ranged from 42.3 to 100% and at 12-months 19.2-85.2%. In the RCT, there was 80.5% adherence, high intervention fidelity, and similar adverse events between groups. There were differences in fitness, walking endurance and self-reported PA at 12 months favoring the intervention group, with data completeness >60%. Participants in the cohort had motor and functional decline at rates comparable to previous studies. CONCLUSION: Predefined progression criteria indicating feasibility were met. PACE-HD lays the groundwork for a future, fully-powered within cohort trial, but approaches to ensure data completeness must be considered. CLINICALTRIALS: GOV: NCT03344601.

Monitoring and Managing Lifestyle Behaviors Using Wearable Activity Trackers: Mixed Methods Study of Views From the Huntington Disease Community.

BACKGROUND: There are early indications that lifestyle behaviors, specifically physical activity and sleep, may be associated with the onset and progression of Huntington disease (HD). Wearable activity trackers offer an exciting opportunity to collect long-term activity data to further investigate the role of lifestyle, physical activity, and sleep in disease modification. Given how wearable devices rely on user acceptance and long-term adoption, it is important to understand users' perspectives on how acceptable any device might be and how users might engage over the longer term. OBJECTIVE: This study aimed to explore the perceptions, motivators, and potential barriers relating to the adoption of wearable activity trackers by people with HD for monitoring and managing their lifestyle and sleep. This information intended to guide the selection of wearable activity trackers for use in a longitudinal observational clinical study. METHODS: We conducted a mixed methods study; this allowed us to draw on the potential strengths of both quantitative and qualitative methods. Opportunistic participant recruitment occurred at 4 Huntington's Disease Association meetings, including 1 international meeting and 3 United Kingdom-based regional meetings. Individuals with HD, their family members, and carers were invited to complete a user acceptance questionnaire and participate in a focus group discussion. The questionnaire consisted of 35 items across 8 domains using a 0 to 4 Likert scale, along with some additional demographic questions. Average questionnaire responses were recorded as positive (score>2.5), negative (score<1.5), or neutral (score between 1.5 and 2.5) opinions for each domain. Differences owing to demographics were explored using the Kruskal-Wallis and Wilcoxon rank sum tests. Focus group discussions (conducted in English) were driven by a topic guide, a vignette scenario, and an item ranking exercise. The discussions were audio recorded and then analyzed using thematic analysis. RESULTS: A total of 105 completed questionnaires were analyzed (47 people with HD and 58 family members or carers). All sections of the questionnaire produced median scores >2.5, indicating a tendency toward positive opinions on wearable activity trackers, such as the devices being advantageous, easy and enjoyable to use, and compatible with lifestyle and users being able to understand the information from trackers and willing to wear them. People with HD reported a more positive attitude toward wearable activity trackers than their family members or caregivers (P=.02). A total of 15 participants participated in 3 focus groups. Device compatibility and accuracy, data security, impact on relationships, and the ability to monitor and self-manage lifestyle behaviors have emerged as important considerations in device use and user preferences. CONCLUSIONS: Although wearable activity trackers were broadly recognized as acceptable for both monitoring and management, various aspects of device design and functionality must be considered to promote acceptance in this clinical cohort.

Telephone Triage Toolkit for Children's cancer services: A quality initiative.

PURPOSE: Service development to improve patient safety and experience, and improve staff safety and confidence when managing telephone calls from parents or carers of children with cancer in the UK. METHOD: A multi-layered mixed methods approach broadly based on sequential PDSA (plan, do, study, act) cycles, to a series of quality initiative projects spanning 14 years. Various project styles and methods are described. RESULTS: A Telephone Triage Toolkit for children's cancer services was piloted, reviewed and rolled out across the UK. Similarities were identified between adult and paediatric cancer services when identifying the case for need, enabling partnership working. A scheduled review completed in 2020 included new developments in cancer treatment, building on user experience, local audits and national feedback, leading to a 2nd edition being implemented. CONCLUSIONS: Ground up, quality initiatives and collaborative working across organisations can be complex but draws on a wider pool of expertise and can lead to improved parent and staff experience of services. This initiative has improved practice and has application outside the UK.

Facilitating inter-professional integration in palliative care: A service ecosystem perspective.

A paradigm shift toward healthcare inter-professional collaboration is leading to searches for ways to better facilitate integration. However, policy rhetoric often fails to acknowledge the complexity of healthcare service systems, and the difficulties involved in achieving successful collaborations. Consequently, more research is called for. We utilize the concept of a service ecosystem, a perspective currently prominent in service science, which is transforming the ways service systems are studied. This research aims to examine palliative care provision through a service ecosystem lens in order to uncover previously unidentified insights and opportunities for improvement. The palliative care ecosystem under study encompasses a defined geographical area of the UK. Data comprises pathographies (i.e., narratives of illness) with patients and their families (n = 31) and in-depth interviews with a variety of palliative care providers (n = 21), collected between 2017 and 2018. Capability issues comprising collaboration, coordination, and resource integration, together with communicating value all emerged as common themes impacting palliative care services. Taking a service ecosystem perspective, we also found shared intentionality for better integration and collaboration, with a desire among palliative care providers for the ecosystem's hospice organization to take the role of leader and facilitator. Acting on these findings, we demonstrate the ways new institutional arrangements provide a foundation for value cocreation. We make a contribution to the burgeoning service ecosystem literature which currently lacks empirical insights, particularly in health. We argue that in complex service systems such as healthcare, the focus must be on service design rather than organizational design, approached from the perspective of aggregation of service providers. We demonstrate empirically how reconfiguring resources and developing new institutional arrangements at the meso level can change micro-macro level interaction, enabling the emergence of new and enhanced value cocreation in palliative care.

Objectively characterizing Huntington's disease using a novel upper limb dexterity test.

BACKGROUND: The Clinch Token Transfer Test (C3t) is a bi-manual coin transfer task that incorporates cognitive tasks to add complexity. This study explored the concurrent and convergent validity of the C3t as a simple, objective assessment of impairment that is reflective of disease severity in Huntington's, that is not reliant on clinical expertise for administration. METHODS: One-hundred-and-five participants presenting with pre-manifest (n = 16) or manifest (TFC-Stage-1 n = 39; TFC-Stage-2 n = 43; TFC-Stage-3 n = 7) Huntington's disease completed the Unified Huntington's Disease Rating Scale and the C3t at baseline. Of these, thirty-three were followed up after 12 months. Regression was used to estimate baseline individual and composite clinical scores (including cognitive, motor, and functional ability) using baseline C3t scores. Correlations between C3t and clinical scores were assessed using Spearman's R and visually inspected in relation to disease severity using scatterplots. Effect size over 12 months provided an indication of longitudinal behaviour of the C3t in relation to clinical measures. RESULTS: Baseline C3t scores predicted baseline clinical scores to within 9-13% accuracy, being associated with individual and composite clinical scores. Changes in C3t scores over 12 months were small ([Formula: see text] ≤ 0.15) and mirrored the change in clinical scores. CONCLUSION: The C3t demonstrates promise as a simple, easy to administer, objective outcome measure capable of predicting impairment that is reflective of Huntington's disease severity and offers a viable solution to support remote clinical monitoring. It may also offer utility as a screening tool for recruitment to clinical trials given preliminary indications of association with the prognostic index normed for Huntington's disease.

Conducting focus groups in neurodegenerative disease populations: ethical and methodological considerations.

BACKGROUND: Involvement of vulnerable populations in research is critical to inform the generalisability of evidence-based medicine to all groups of the population. OBJECTIVE: In this communication, we reflect on our previous research, and that of other authors, to identify and explore key ethical and methodological considerations. DISCUSSION: Focus groups are a widely implemented qualitative methodology, but their use, particularly in vulnerable neurodegenerative disease populations, is not straightforward. Although the risk of harm is generally low in focus group research, neurodegenerative disease populations are particularly vulnerable to issues relating to comprehension and their capacity to consent. Physical and cognitive impairments may also affect social interactions among participants and therefore impact data collection and analyses. CONCLUSION: We offer a number of ethical and methodological recommendations to facilitate the processes of recruitment and data collection when conducting focus groups with neurodegenerative disease populations.

Correction: Checklists for Complications During Systemic Cancer Treatment Shared by Patients, Friends, and Health Care Professionals: Prospective Interventional Cohort Study.

[This corrects the article DOI: 10.2196/19225.].

Checklists for Complications During Systemic Cancer Treatment Shared by Patients, Friends, and Health Care Professionals: Prospective Interventional Cohort Study.

BACKGROUND: Advances in cancer management have been associated with an increased incidence of emergency presentations with disease- or treatment-related complications. OBJECTIVE: This study aimed to measure the ability of patients and members of their social network to complete checklists for complications of systemic treatment for cancer and examine the impact on patient-centered and health-economic outcomes. METHODS: A prospective interventional cohort study was performed to assess the impact of a smartphone app used by patients undergoing systemic cancer therapy and members of their network to monitor for common complications. The app was used by patients, a nominated "safety buddy," and acute oncology services. The control group was made up of patients from the same institution. Measures were based on process (completion of checklists over 60 days), patient experience outcomes (Hospital Anxiety and Depression Scale and the General version of the Functional Assessment of Cancer Therapy at baseline, 1 month, and 2 months) and health-economic outcomes (usage of appointments in primary care and elective and unscheduled hospital admissions). RESULTS: At the conclusion of the study, 50 patients had completed 2882 checklists, and their 50 "safety buddies" had completed 318 checklists. Near daily usage was maintained over the 60-day study period. When compared to a cohort of 50 patients with matching disease profiles from the same institution, patients in the intervention group had comparable changes in Hospital Anxiety and Depression Scale and General version of the Functional Assessment of Cancer Therapy. Patients in the Intervention Group required a third (32 vs 97 nights) of the hospital days with overnight stay compared to patients in the Control Group, though the difference was not significant. The question, "I feel safer with the checklist," received a mean score of 4.27 (SD 0.87) on a Likert scale (1-5) for patients and 4.55 (SD 0.65) for family and friends. CONCLUSIONS: Patients undergoing treatment for cancer and their close contacts can complete checklists for common complications of systemic treatments and take an active role in systems supporting their own safety. A larger sample size will be needed to assess the impact on clinical outcomes and health economics.

Introducing the trajectory Touchpoint technique: a systematic methodology for capturing the service experiences of palliative care patients and their families.

BACKGROUND: Evaluation of palliative care services is crucial in order to ensure high quality care and to plan future services in light of growing demand. There is also an acknowledgement of the need to better understand patient experiences as part of the paradigm shift from paternalistic professional and passive patient to a more collaborative partnership. However, while clinical decision-making is well-developed, the science of the delivery of care is relatively novel for most clinicians. We therefore introduce the Trajectory Touchpoint Technique (TTT), a systematic methodology designed using service delivery models and theories, for capturing the voices of palliative care service users. METHODS: We used design science research as our overarching methodology to build our Trajectory Touchpoint Technique. We also incorporated a range of kernel theories and service design models from the wider social sciences. We developed and tested our Trajectory Touchpoint Technique with palliative care patients and their families (n = 239) in collaboration with different hospices and hospital-based palliative care providers (n = 8). RESULTS: The Trajectory Touchpoint Technique is user-friendly, enables systematic data collection and analysis, and incorporates all tangible and intangible dimensions of palliative care important to the service user. These dimensions often go beyond clinical care to encompass wider aspects that are important to the people who use the service. Our collaborating organisations have already begun to make changes to their service delivery based on our results. CONCLUSIONS: The Trajectory Touchpoint Technique overcomes several limitations of other palliative care evaluation methods, while being more comprehensive. The new technique incorporates physical, psychosocial, and spiritual aspects of palliative care, and is user-friendly for inpatients, outpatients, families, and the bereaved. The new technique has been tested with people who have a range of illnesses, in a variety of locations, among people with learning disabilities and low levels of literacy, and with children as well as adults. The Trajectory Touchpoint Technique has already uncovered many previously unrecognised opportunities for service improvement, demonstrating its ability to shape palliative care services to better meet the needs of patients and their families.

DNA methylation disruption reshapes the hematopoietic differentiation landscape.

Mutations in genes involved in DNA methylation (DNAme; for example, TET2 and DNMT3A) are frequently observed in hematological malignancies1-3 and clonal hematopoiesis4,5. Applying single-cell sequencing to murine hematopoietic stem and progenitor cells, we observed that these mutations disrupt hematopoietic differentiation, causing opposite shifts in the frequencies of erythroid versus myelomonocytic progenitors following Tet2 or Dnmt3a loss. Notably, these shifts trace back to transcriptional priming skews in uncommitted hematopoietic stem cells. To reconcile genome-wide DNAme changes with specific erythroid versus myelomonocytic skews, we provide evidence in support of differential sensitivity of transcription factors due to biases in CpG enrichment in their binding motif. Single-cell transcriptomes with targeted genotyping showed similar skews in transcriptional priming of DNMT3A-mutated human clonal hematopoiesis bone marrow progenitors. These data show that DNAme shapes the topography of hematopoietic differentiation, and support a model in which genome-wide methylation changes are transduced to differentiation skews through biases in CpG enrichment of the transcription factor binding motif.

Completeness and data validity in the Danish Achilles tendon Database.

INTRODUCTION: Acute Achilles tendon rupture is a severe injury causing functional deficits and sick leave. Data from the Danish Achilles tendon Database (DADB) can help us monitor and optimise treatment. The aim of this study was to investigate the completeness and data validity in the DADB. METHODS: The study was performed as a registry study comparing data in the DADB with data from patient records. Data were collected from three of 11 hospitals registered in the DADB. The study was conducted from 1 January to 31 December 2016. A completeness of 80% was considered satisfactory, and a parameter was valid if there was agreement between the DADB and the patient record in 80% of the cases. RESULTS: Overall, completeness was 77% (155/201); for the non-operated patients 81% (150/185) and the operated patients 31% (5/16). The seven investigated parameters all showed a validity of 83-100%. CONCLUSIONS: This study documented a satisfactory completeness of data on the non-operated patients registered in the DADB and an unsatisfactory completeness of data on operated patients. All investigated parameters were valid. These results suggest that data in the DADB on non-operated patients can contribute to research within the field. Due to a limited sample on operated patients, conclusions should be made with caution. The logistics concerning data collection among operated patients warrants optimisation. FUNDING: not relevant. TRIAL REGISTRATION: The study was approved by the Danish Data Protection Agency and the Danish Patient Safety Authority.

A Quality Control Study of the Adherence to Recommended Physiological Targets for the Management of Brain-Dead Organ Donors in South Australian Intensive Care Units.

BACKGROUND: The Australian and New Zealand Intensive Care Society and the Australasian Transplant Coordinators Association provide recommendations on the physiological management of brain-dead donors. PROBLEM STATEMENT: How often physiological targets are prescribed for brain-dead donors in Australian intensive care units (ICUs), and how well these compare to recommended targets is unknown. It is also unknown how often recommended targets are achieved, irrespective of prescribed targets. METHODS: We performed a retrospective, observational quality control study in 81 adult (>18 years) brain-dead donors to describe how often physiological targets were prescribed, comparing these to current guidelines. We determined the proportion of observations within the recommended target range, irrespective of any prescribed target. We aimed to identify poor adherence to recommended targets to guide future quality improvement initiatives. OUTCOMES: Seventy-four (91%) donors had at least 1 prescribed physiological target written on the ICU chart, with a median of 2 (range 2-5), and a maximum of 13 targets. Prescribed targets appeared to adhere well with recommended targets. Most recommended physiological targets were met irrespective of any prescribed target. However, one-quarter of serum sodium observations and one-third of blood glucose levels were above the recommended target. IMPLICATIONS FOR PRACTICE: Quality improvement initiatives are required to improve the prescription of physiological targets in brain-dead donors in South Australia. Serum sodium and serum glucose targets were not met. However, this most likely reflects the need for current guidelines to be updated in line with current evidence.

Perceptions of nurses about potential barriers to the use of humour in practice: a literature review of qualitative research.

AIM: To identify the perceptions of nurses (working with adult patients) about potential barriers to the use of humour in practice. DESIGN/METHODS: A literature review of qualitative research and thematic synthesis were undertaken. Four key databases were systematically searched and manual search conducted. RESULTS: The review and thematic analysis identified five key themes from the included studies: (1) inappropriate situations, (2) being a new or junior nurse, (3) the impact on nurse professionalism, (4) differences in personality, and (5) environmental factors. CONCLUSION: Results from this thematic synthesis identified perceptions of nurses about potential barriers that prevent the use of humour in practice. The extent to which nurses use humour is related to personality factors, but is also affected by external and social factors. Reluctance in its use in practice is influenced by views that humour is unprofessional; with senior nurses found to have a pertinent role in influencing its use.