Implementing physiotherapy Huntington's Disease guidelines in clinical practice

Background:The recently published clinical practice guideline for physiotherapy practice for Huntington’s disease (HD) should be integrated into practice to develop interventions that enable people with HD to achieve personalised goals. The European Huntington’s Disease Network Physiotherapy Working Group aims to support and enable the use of best evidence in physiotherapy for the HD community. Successful implementation of the clinical practice guidelines requires an understanding of facilitators and barriers to therapist implementation. Objective:To explore facilitators and barriers to implementing recently published clinical recommendations that guide physiotherapy practice for HD. Methods:An online survey was distributed globally through HD networks. Data collected included demographic information and agreement/disagreement with a series of named facilitators and barriers to implementation of each of the six physiotherapy guideline recommendations. A consensus level of≥70% agreement was set as indicative of agreement/disagreement. Results:Thirty-two physiotherapists working in a range of settings responded. Support from colleagues (81–91% agreement), an individualised physiotherapy plan (72–88% agreement) and physiotherapist’s expertise in HD (81–91% agreement) were reported as facilitators. The main barriers were behavioural (72–81% agreement) and cognitive (75–81% agreement) impairments and low motivation (72–78% agreement) in persons with HD. Conclusion:Physiotherapists agree that their expertise in HD and support from colleagues facilitate the development of individualised treatment plans. Further work needs to develop creative ways in which barriers specific to the cognitive and behavioural aspects of HD can be managed to enable treatment plans to be implemented

The Impact of Different Types of Assistive Devices on Gait Measures and Safety in Huntington's Disease

BACKGROUND: Gait and balance impairments lead to frequent falls and injuries in individuals with Huntington's disease (HD). Assistive devices (ADs) such as canes and walkers are often prescribed to prevent falls, but their efficacy is unknown. We systematically examined the effects of different types of ADs on quantitative gait measures during walking in a straight path and around obstacles. METHODS: Spatial and temporal gait parameters were measured in 21 subjects with HD as they walked across a GAITRite walkway under 7 conditions (i.e., using no AD and 6 commonly prescribed ADs: a cane, a weighted cane, a standard walker, and a 2, 3 or 4 wheeled walker). Subjects also were timed and observed for number of stumbles and falls while walking around two obstacles in a figure-of-eight pattern. RESULTS: Gait measure variability (i.e., coefficient of variation), an indicator of fall risk, was consistently better when using the 4WW compared to other ADs. Subjects also walked the fastest and had the fewest number of stumbles and falls when using the 4WW in the figure-of-eight course. Subjects walked significantly slower using ADs compared to no AD both across the GAITRite and in the figure-of-eight. Measures reflecting gait stability and safety improved with the 4WW but were made worse by some other ADs

Monitoring the referral system through benchmarking in rural Niger: an evaluation of the functional relation between health centres and the district hospital

BACKGROUND: The main objective of this study is to establish a benchmark for referral rates in rural Niger so as to allow interpretation of routine referral data to assess the performance of the referral system in Niger. METHODS: Strict and controlled application of existing clinical decision trees in a sample of rural health centres allowed the estimation of the corresponding need for and characteristics of curative referrals in rural Niger. Compliance of referral was monitored as well. Need was matched against actual referral in 11 rural districts. The referral patterns were registered so as to get an idea on the types of pathology referred. RESULTS: The referral rate benchmark was set at 2.5 % of patients consulting at the health centre for curative reasons. Niger's rural districts have a referral rate of less than half this benchmark. Acceptability of referrals is low for the population and is adding to the deficient referral system in Niger. Mortality because of under-referral is highest among young children. CONCLUSION: Referral patterns show that the present programme approach to deliver health care leaves a large amount of unmet need for which only comprehensive first and second line health services can provide a proper answer. On the other hand, the benchmark suggests that well functioning health centres can take care of the vast majority of problems patients present with

Design and baseline characteristics of the finerenone in reducing cardiovascular mortality and morbidity in diabetic kidney disease trial

Background: Among people with diabetes, those with kidney disease have exceptionally high rates of cardiovascular (CV) morbidity and mortality and progression of their underlying kidney disease. Finerenone is a novel, nonsteroidal, selective mineralocorticoid receptor antagonist that has shown to reduce albuminuria in type 2 diabetes (T2D) patients with chronic kidney disease (CKD) while revealing only a low risk of hyperkalemia. However, the effect of finerenone on CV and renal outcomes has not yet been investigated in long-term trials. Patients and Methods: The Finerenone in Reducing CV Mortality and Morbidity in Diabetic Kidney Disease (FIGARO-DKD) trial aims to assess the efficacy and safety of finerenone compared to placebo at reducing clinically important CV and renal outcomes in T2D patients with CKD. FIGARO-DKD is a randomized, double-blind, placebo-controlled, parallel-group, event-driven trial running in 47 countries with an expected duration of approximately 6 years. FIGARO-DKD randomized 7,437 patients with an estimated glomerular filtration rate >= 25 mL/min/1.73 m(2) and albuminuria (urinary albumin-to-creatinine ratio >= 30 to <= 5,000 mg/g). The study has at least 90% power to detect a 20% reduction in the risk of the primary outcome (overall two-sided significance level alpha = 0.05), the composite of time to first occurrence of CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for heart failure. Conclusions: FIGARO-DKD will determine whether an optimally treated cohort of T2D patients with CKD at high risk of CV and renal events will experience cardiorenal benefits with the addition of finerenone to their treatment regimen. Trial Registration: EudraCT number: 2015-000950-39; ClinicalTrials.gov identifier: NCT02545049

Atypical embryonic synapses fail to regenerate in adulthood

Functional recovery following central nervous system (CNS) injury in adult animals may depend on the reestablishment of the precise pattern of connections made during development. When the nervous system is injured during embryonic development, functional recovery may involve the formation of atypical connections. Can such atypical synapses regenerate in adults, particularly in a nervous system known for its capacity for repair? When the S interneuron in one segmental ganglion of the leech Hirudo is killed during development, two neighboring S cells extend their axons into the ganglion and restore function by making electrical synapses with the usual synaptic targets of the killed S cell. Although adult S-cell axons reliably regenerated their usual synaptic connections, the novel synapses induced following embryonic injury failed to regenerate in adults. In these preparations severed S-cell axons did not reach the denervated ganglion but grew close to it, independent of the distance required to grow. Thus, the developmental changes that permit aberrant but functional connections in embryos do not lead to a similar change in the capacity for axon growth and subsequent synapse regeneration in adults

Gait measures across all walking conditions: mean, (standard deviation).

<p>Abbreviations: no AD, no assistive device; StW, standard walker; 2WW, two wheeled walker; 3WW, three wheeled walker; 4WW, four wheeled walker; CV, Coefficient of Variation;</p><p>*significantly different than no AD at p<.05;</p><p>**significantly different than all other conditions at p<.05;</p>†<p>significantly different than cane at p<.05;</p>#<p>significantly different than StW at p<.05;</p>∞<p>significantly different than 3WW at p<.05;</p>‡<p>significantly different from 2WW, 3WW, 4WW at p<.05;</p>§<p>significantly different than 2WW, 4WW at p<.05.</p

The Step Test Evaluation of Performance on Stairs (STEPS): Validation and reliability in a neurological disorder.

BackgroundIndividuals with neurological disorders often have difficulty negotiating stairs that can lead to injurious falls. Clinicians lack a clinical tool to identify impairments in stair negotiation and to assist their decision making regarding treatment plans to improve stair performance and safety. We developed a new tool called the Step Test Evaluation of Performance on Stairs (STEPS) that is designed to assess stair performance and safety in neurological populations.ObjectivesThis study aimed to determine interrater and intrarater reliability of STEPS and its concurrent content validity to various clinical balance and mobility measures using individuals with Huntington's disease (HD) as the first test population.MethodsForty individuals with HD (mean age 50.35) participated. Three observers rated live performances of the STEPS (interrater reliability) and seven observers rated videotaped performances twice (intrarater reliability). STEPS scores correlated with clinical mobility and balance test scores.ResultsExcellent inter- and intrarater reliability (ICCs = 0.91 and 0.89 respectively) and good internal consistency (α = 0.83) were found. Better STEPS performance correlated with better performance on co-administered motor and mobility measures and Stair Self-Efficacy scores. Per multivariable regression analysis, the Unified Huntington's Disease Rating Scale modified motor score and descent time were significant predictors of STEPS performance.ConclusionsThe STEPS tool is easy to administer, requires no special devices and can be completed in less than five minutes. In the HD test population, it shows high reliability and validity making it a potentially useful tool for assessing maneuverability and safety on stairs in HD. The results suggest that the STEPS tool warrants further study to determine STEPS cut-off values for fall prediction in HD and may prove useful as an assessment tool for other neurological disorders

Footfall Patterns.

<p>Footfall pattern recordings in one individual with HD under five conditions (A) no assistive device and using a (B) cane, (C) standard walker, (D) two-wheeled walker or (E) four-wheeled walker. The four-wheeled walker (E) produced a gait pattern with the least variability.</p

Reliability and minimal detectable change of physical performance measures in individuals with pre-manifest and manifest Huntington disease

Background: Clinical intervention trials in people with Huntington disease (HD) have been limited by a lack of reliable and appropriate outcome measures. Objective: The purpose of this study was to determine the reliability and minimal detectable change (MDC) of various outcome measures that are potentially suitable for evaluating physical functioning in individuals with HD. Design: This was a multicenter, prospective, observational study. Methods: Participants with pre-manifest and manifest HD (early, middle, and late stages) were recruited from 8 international sites to complete a battery of physical performance and functional measures at 2 assessments, separated by 1 week. Test-retest reliability (using intraclass correlation coefficients) and MDC values were calculated for all measures. Results: Seventy-five individuals with HD (mean age=52.12 years, SD=11.82) participated in the study. Test-retest reliability was very high (>.90) for participants with manifest HD for the Six-Minute Walk Test (6MWT), 10-Meter Walk Test, Timed “Up & Go” Test (TUG), Berg Balance Scale (BBS), Physical Performance Test (PPT), Barthel Index, Rivermead Mobility Index, and Tinetti Mobility Test (TMT). Many MDC values suggested a relatively high degree of inherent variability, particularly in the middle stage of HD. Minimum detectable change values for participants with manifest HD that were relatively low across disease stages were found for the BBS (5), PPT (5), and TUG (2.98). For individuals with pre-manifest HD (n=11), the 6MWT and Four Square Step Test had high reliability and low MDC values. Limitations: The sample size for the pre-manifest HD group was small. Conclusions: The BBS, PPT, and TUG appear most appropriate for clinical trials aimed at improving physical functioning in people with manifest HD. Further research in people with pre-manifest HD is necessary