Evidence of a new Hg-tolerant ecotype of Rumex induratus from Almadén (Ciudad Real, Spain)

This is an Accepted Manuscript of an article published by Taylor & Francis Group in Plant Biosystems on 01/01/2014, available online: http://www.tandfonline.com/10.1080/11263504.2012.758188Mercury tolerance in wild vascular plants has hardly been studied and a tolerant ecotype is not known. In order to confirm the tolerance to Hg of Rumex induratus naturally growing in the biggest Hg mine in the world (Almadén population), the population was compared in a hydroponic experiment with another population from a non-Hg-contaminated area (Colmenar). The plants were exposed to different doses of Hg and a dose of As to establish whether the tolerance to Hg coincides with tolerance to other trace elements. Plants from Colmenar reached up to 1322 μg Hg g-1 in roots and 65 μg Hg g-1 in shoots and showed a significant decrease in biomass due to Hg exposure, whilst Almadén accumulated only 812 μg Hg g-1 and 56 μg Hg g-1 in roots and shoots, respectively. The Almadén population showed a higher tolerance to intense exposure to Hg, but not to As. Plants from Almadén exposed to Hg showed higher capacity to synthesise thiols in the root and to control oxidative stress and Zn starvation. Our findings suggest that R. induratus could be used to enhance understanding of the mechanisms of Hg tolerance in plantsThis study was supported by Spanish Ministry of Education and Science, Project CGL 2009-13171-C03-02 and by Comunidad de Madrid, Project EIADES (S2009 AMB-1474

Functional Impact of Sydenham’s Chorea: A Case Report

Background: Sydenham's chorea (SC) is the most common type of acquired chorea in childhood. In some cases, symptoms (most commonly described in terms of neurological signs) last up to 2 years, and many cases relapse. This report describes the clinical course in terms of functional abilities following diagnosis of SC. Case report: Standardized assessments across the domains of activity and participation were administered following diagnosis, prior to and following treatment with haloperidol to measure treatment response and identify occupational therapy intervention needs. SC was observed to significantly reduce the child's participation and independence in activities of daily living. In this case, the standardized assessments administered highlighted difficulties with both motor and process skills. At 1 week after commencing haloperidol, both motor and process skills had improved. Clinically significant changes in self-care and mobility were noted with less improvement with handwriting. At 9 weeks, most symptoms and functional difficulties had resolved. Discussion: Given the process difficulties detected in this case, and the possibility of enduring symptoms, the use of functional assessments is advocated in the routine management of SC. These findings illustrate the potential for motor and non-motor sequelae in acute childhood movement disorders and related functional disabling consequences

Application of Machine Learning Using Decision Trees for Prognosis of Deep Brain Stimulation of Globus Pallidus Internus for Children With Dystonia

Background: While Deep Brain Stimulation (DBS) of the Globus pallidus internus is a well-established therapy for idiopathic/genetic dystonia, benefits for acquired dystonia are varied, ranging from modest improvement to deterioration. Predictive biomarkers to aid DBS prognosis for children are lacking, especially in acquired dystonias, such as dystonic Cerebral Palsy. We explored the potential role of machine learning techniques to identify parameters that could help predict DBS outcome. Methods: We conducted a retrospective study of 244 children attending King's College Hospital between September 2007 and June 2018 for neurophysiological tests as part of their assessment for possible DBS at Evelina London Children's Hospital. For the 133 individuals who underwent DBS and had 1-year outcome data available, we assessed the potential predictive value of six patient parameters: sex, etiology (including cerebral palsy), baseline severity (Burke-Fahn-Marsden Dystonia Rating Scale-motor score), cranial MRI and two neurophysiological tests, Central Motor Conduction Time (CMCT) and Somatosensory Evoked Potential (SEP). We applied machine learning analysis to determine the best combination of these features to aid DBS prognosis. We developed a classification algorithm based on Decision Trees (DTs) with k-fold cross validation for independent testing. We analyzed all possible combinations of the six features and focused on acquired dystonias. Results: Several trees resulted in better accuracy than the majority class classifier. However, the two features that consistently appeared in top 10 DTs were CMCT and baseline dystonia severity. A decision tree based on CMCT and baseline severity provided a range of sensitivity and specificity, depending on the threshold chosen for baseline dystonia severity. In situations where CMCT was not available, a DT using SEP alone provided better than the majority class classifier accuracy. Conclusion: The results suggest that neurophysiological parameters can help predict DBS outcomes, and DTs provide a data-driven, highly interpretable decision support tool that lends itself to being used in clinical practice to help predict potential benefit of DBS in dystonic children. Our results encourage the introduction of neurophysiological parameters in assessment pathways, and data collection to facilitate multi-center evaluation and validation of these potential predictive markers and of the illustrative decision support tools presented here

Frontline Allied Health Professionals in a Tertiary Children’s Hospital: Moving Forward Research Capacity, Culture and Engagement

Higher levels of research activity within healthcare contexts are known to result in improvements to staff and patient satisfaction as well as treatment outcomes. In the United Kingdom (UK), clinical academic careers for Allied Health Professionals (AHPs) are a key priority development area. This article presents the results of a study that aimed to scope the research capacity of four AHP professions in a tertiary children’s hospital using the Research Capacity and Culture Tool. This tool captures individuals’ views of success or skill required for a number of research-related items within the three domains of individual, team and organisation. Response rate ranged between 45-71% across the four groups. Reported barriers to carrying out research included a lack of time, clinical work taking priority, and lack of suitable backfill (i.e., employing a therapist to cover the clinical post for the AHP to complete research activity). Motivators, on the other hand, included skill development, career advancement, and increased job satisfaction. As a first step to strengthen research skills, a systematic process was used to devise a suite of supportive strategies targeting the individuals’ perceived gaps in their research abilities across four pillars: (i) awareness, (ii) accessibility, (iii) opportunity and capacity, and (iv) knowledge and skills. This process drew on previously published accounts of successful research capacity and culture development, as well as the unique needs of staff at this tertiary children’s hospital. The outcome of this process was a structured framework to support research capacity, culture and engagement. The specific details of this framework are reported in this article together with further recommendations to promote research capacity, culture and engagement amongst AHPs

Non-motor symptoms in Dystonia: From diagnosis to treatment

The Dystonia Medical Research Foundation organized an expert virtual workshop in March 2023 to review the evidence on non-motor symptoms across the spectrum of dystonia, discuss existing assessment methods, need for their harmonisation and roadmap to achieve this, and evaluate potential treatment approaches. Albeit the most investigated non-motor domains, experts highlighted the need to identify the most accurate screening procedure for depression and anxiety, clarify their mechanistic origin and quantify their response to already available therapies. Future exploration of sleep disruption in dystonia should include determining the accuracy and feasibility of wearable devices, understanding the contribution of psychotropic medication to its occurrence, and defining the interaction between maladaptive plasticity and abnormal sleep patterns. Despite recent advances in the assessment of pain in dystonia, more research is needed to elucidate the relative importance of different mechanisms called into play to explain this impactful sensory feature and the most appropriate treatments. Amongst the different non-motor features investigated in dystonia, cognitive dysfunction and fatigue require an in-depth observation to evaluate their functional impact, their clinical profile and assessment methods and, in the case of cognition, whether impairment represents a prodrome of dementia. Finally, experts identified the development and field validation of a self-rated screening tool encompassing the full spectrum of non-motor symptoms as the most urgent step towards incorporating the management of these features into routine clinical practice

The International Classification of Functioning (ICF) to evaluate deep brain stimulation neuromodulation in childhood dystonia-hyperkinesia informs future clinical & research priorities in a multidisciplinary model of care

AbstractThe multidisciplinary team (MDT) approach illustrates how motor classification systems, assessments and outcome measures currently available have been applied to a national cohort of children and young people with dystonia and other hyperkinetic movement disorders (HMD) particularly with a focus on dyskinetic cerebral palsy (CP). The paper is divided in 3 sections. Firstly, we describe the service model adopted by the Complex Motor Disorders Service (CMDS) at Evelina London Children's Hospital and King's College Hospital (ELCH-KCH) for deep brain stimulation. We describe lessons learnt from available dystonia studies and discuss/propose ways to measure DBS and other dystonia-related intervention outcomes. We aim to report on current available functional outcome measures as well as some impairment-based assessments that can encourage and generate discussion among movement disorders specialists of different backgrounds regarding choice of the most important areas to be measured after DBS and other interventions for dystonia management. Finally, some recommendations for multi-centre collaboration in regards to functional clinical outcomes and research methodologies for dystonia-related interventions are proposed

The Relative Merits of an Individualized Versus a Generic Approach to Rating Functional Performance in Childhood Dystonia

Aims. The Performance Quality Rating Scale (PQRS) is an observational measure that captures performance at the level of activity and participation. Developed for use with the Cognitive Orientation to daily Occupational Performance (CO-OP), it is a highly individualized approach to measurement. CO-OP is currently being studied in childhood-onset hyperkinetic movement disorders (HMD) and deep brain stimulation. The purpose of this study was to compare two different approaches to rating performance, generic (PQRS-G) and individualized (PQRS-I), for children with childhood-onset hyperkinetic movement disorders (HMD) including dystonia. Method. Videotaped activity performances, pre and post intervention were independently scored by two blind raters using PQRS-G PQRS-I. Results were examined to determine if the measures identified differences in e performance on goals chosen by the participants and on change scores after intervention. Dependent t-tests were used to compare performance and change scores. Results. The two approaches to rating both have moderate correlations (all data: 0.764; baseline: 0.677; post-intervention: 0.725) and yielded some different results in capturing performance. There was a significant difference in scores at pre-intervention between the two approaches to rating, even though post-intervention score mean difference was not significantly different. The PQRS-I had a wider score range, capturing wider performance differences, and greater change between baseline and post-intervention performances for children and young people with dystonic movement. Conclusions. Best practice in rehabilitation requires the use of outcome measures that optimally captures performance and performance change for children and young people with dystonic movement. When working with clients with severe motor-performance deficits, PQRS-I appears to be the better approach to capturing performance and performance changes