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

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Backward Walking and Dual-Task Assessment Improve Identification of Gait Impairments and Fall Risk in Individuals with MS

Background. Individuals with multiple sclerosis (MS) experience deficits in motor and cognitive domains, resulting in impairment in dual-task walking ability. The goal of this study was to compare performance of forward walking and backward walking in single- and dual-task conditions in persons with MS to age- and sex-matched healthy controls. We also examined relationships between forward and backward walking to cognitive function, balance, and retrospective fall reports. Methods. All measures were collected in a single session. A 2×2×2 mixed model ANOVA was used to compare differences in forward and backward walking in single- and dual-task conditions between MS and healthy controls. Spearman correlations were used to examine relationships between gait and cognitive function, falls, and balance. Results. Eighteen individuals with relapsing-remitting MS and 14 age- and sex-matched healthy controls participated. Backward walking velocity revealed significant differences between groups for both single-task (p=0.015) and dual-task (p=0.014) conditions. Persons with MS demonstrated significant differences between single- and dual-task forward and backward walking velocities (p=0.023; p=0.004), whereas this difference was only apparent in the backward walking condition for healthy controls (p=0.004). In persons with MS, there were significant differences in double support time between single- and dual-task conditions in both backward (p<0.001) and forward (p=0.001) directions. More falls at six months were significantly associated with shorter backward dual-task stride length (r=−0.490; p=0.046) and slower velocity (r=−0.483; p=0.050). Conclusion. Differences in MS and age- and sex-matched healthy controls are more pronounced during backward compared to forward walking under single- and dual-task conditions. Future work with a larger sample size is needed to validate the clinical utility of backward walking and dual-task assessments and mitigate the limited sensitivity of the current dual-task assessments that primarily rely upon forward walking

Coefficients of Variation.

<p>Comparison of mean coefficients of variation across six walking conditions: (A) step time and (B) stride length coefficients of variation (CV) with standard deviation. Variability was consistently low when using the four-wheeled walker (4WW); no AD, no assistive device; StW, standard walker; 2WW, two-wheeled walker; 3WW, three-wheeled walker; *significantly different than no AD at <i>p</i><.05. * significantly different than no AD at p<.05; † significantly different than cane at p<.05; # significantly different than StW at p<.05; ∞ significantly different than 3WW at p<.05; § significantly different than 2WW, 4WW at p<.05; Ψ significantly different than cane and 4WW at p<.05.</p

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

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

Coefficient of Variation of 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 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 4WW at p<.05;</p><p>significantly different from 2WW and 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>Ψ<p>significantly different than cane and 4WW at p<.05.</p

Figure of Eight Course.

<p>Comparison of mean time and stumbles on a figure of eight course: (A) mean time with standard deviation for one lap around figure-of-eight course and (B) number of stumbles and number of individuals who stumbled walking in the figure-of-eight course across conditions; no AD, no assistive device; StW, standard walker; 2WW, two-wheeled walker; 3WW, three-wheeled walker; 4WW, four-wheeled walker. * significantly different than no AD at <i>p</i><.001.</p