Role of the SLP in management of Huntington’s disease : a literature review

Huntington’s disease (HD) is a devastating, autosomal-dominantly inherited and progressive motor system disease that currently is estimated to affect more than 30,000 people in the United States (National Institute of Neurological Disorders and Stroke [NINDS], 2017). Unfortunately, there is no cure for this disease and prognosis is generally poor, with death occurring at around 15-20 years post-diagnosis (NINDS, 2017). Given HD’s distinct effect on motor function, most of the literature has centered around pharmacological treatment for movement. As a result of the disease’s progressive nature, cognition, and swallowing are likely to become impaired over the course of the disease; however, the effects of the disease on these systems have been studied to a lesser extent. Consequently, evidence to support the efficacy of rehabilitative therapies for management of HD symptoms is lacking. Not only is this gap in the literature concerning, as HD carriers could potentially be missing out on therapies that may prove to be beneficial, but it also hinders therapists’ use of evidence-based practice for management of the disease. This paper examines available research regarding the management of HD from a communication sciences and disorders (CSD) perspective for use by clinical speech-language pathologists (SLPs). Specifically, this literature review examines evidence-based research regarding the diagnosis, assessment, and management of disorders of speech, language, cognition, and swallowing, with the goal of providing insight into the SLP’s role in the management of HD.Communication Sciences and Disorder

Využití kognitivích testů u Huntingtonovy nemoci v klinické praxi

Úvod: Huntingtonova nemoc (HN) je dědičné neurodegenerativní onemocnění projevující se poruchami hybnosti, chování a kognitivním deficitem s fatálními následky. Cíle: Cílem této studie bylo ověřit psychometrické vlastnosti standardní kognitivní baterie používané u HN a stanovit jazykově specifické normativní hodnoty. Soubor a metodika: V první studii byl porovnáván kognitivní výkon u 106 pacientů v různých stádiích HN a u 100 zdravých kontrol párovaných podle věku, pohlaví a vzdělání. Neuropsychologická baterie zahrnovala Test modalit čísel a symbolů (SDMT), Stroopův test, Test cesty, kategoriální a fonemickou verbální fluenci. U pacientů byl navíc komplexně hodnocen motorický a funkční stav. Ve druhé studii byl hodnocen kognitivní výkon 3 267 zdravých osob. Práce byla zaměřena na stratifikaci kognitivního výkonu v souvislosti s věkem, pohlavím, rodným jazykem a vzděláním. Dalším cílem bylo na základě získaných dat vytvořit normativní kalukátor pro hodnocení míry kognitivního deficitu v různých jazycích (angličtina, němčina, španělština, italština, polština, francouzština, nizozemština, dánština). Výsledky: V první studii analýza rozptylu ukázala, že zdravé kontroly dosahovaly významně lepších výsledků než pacienti. Kognitivní výkon koreloval s motorickým a funkčním postižením (p < 0,001) nezávisle na věku...Introduction: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder manifested by motor, behavioural and cognitive deficits with fatal consequences. Aims: This study aims to validate the psychometric properties of a standard cognitive battery used in HD and establish language-specific normative values. Methods: In the first study, cognitive performance was compared in 106 patients at different stages of HD and 100 healthy controls matched for age, sex, and education. The neuropsychological battery included the Symbol Digit Modalities Test, Stroop Word Reading Test, Stroop Colour Naming Test, Stroop Interference Test, Trail Making Test-A and B, Category and Letter Verbal Fluency. In addition, patients were comprehensively assessed for motor and functional status. In the second study, the cognitive performance of 3,267 healthy subjects was assessed. The work focused on the stratification of cognitive performance concerning age, gender, language and level of education. Another aim was to establish the language-specific normative values and implement a web-based normative calculator to assess the degree of cognitive deficit in different languages (English, German, Spanish, Italian, Polish, French, Dutch, Danish). Results: In the first study, analysis of variance showed that healthy...Neurologická klinika 1. LF UK a VFNDepartment of Neurology First Faculty of Medicine Charles University and General University Hospital in Prague1. lékařská fakultaFirst Faculty of Medicin

An exploratory study of mobility-related outcome measures and an exercise intervention in people with Huntington's Disease (HD)

Objective: There is emerging evidence that exercise may modify disease progression and improve function in a number of neurodegenerative diseases, but this has not been systematically studied in Huntington.s disease (HD). The purpose of this study was to evaluate feasibility, acceptability and benefits of an exercise programme in people with HD. Methods: Using a randomised controlled trial design, 25 participants with manifest HD were allocated to either intervention (home-based exercise; n=13) or control (usual care;n=12) groups. Participants were assessed at baseline and eight weeks later. Eleven participants from the exercise and 10 from the control group completed the intervention study. The primary outcome was gait variability (stride time coefficient of variation (CV)). Secondary outcomes included other measures of gait, disease-specific motor scale and measures of balance, muscle strength, mobility and community walking, functional performance in ADL and quality of life. These measures were included to reflect a range of physical impairments and activity limitations seen in people with HD. Analysis of covariance was used to compare follow-up scores across groups after adjustment for differences at baseline. Effect sizes were calculated for outcome measures based on differences in change scores between groups. Process interviews were conducted at the end of the study to determine acceptability of the intervention to participants. Cross sectional investigation of outcome measures was undertaken initially to investigate discriminant and concurrent validity as well as test re-test reliability and minimal detectable change (MDC95) along the broad spectrum of the disease. Baseline data from 25 participants with manifest HD (who went on to participate in the intervention), in addition to data from 17 individuals with pre-manifest HD and 25 healthy controls were analysed. This data was of use in interpreting the results from the interventional study. In particular, the MDC95 data helped in determining of whether any statistical significant changes due to the intervention are clinically meaningful. Results: Measures of gait variability, some measures of balance, community walking and measures of functional performance in ADL were able to distinguish between people with manifest HD and pre-manifest HD as well as between people with pre-manifest HD and healthy controls suggesting good discriminant validity. All these outcomes had also good concurrent validity with a disease specific motor score. The test re-tests reliability scores for the majority of the outcomes were high and the MDC95 scores were low, suggesting that the individual variability on these outcomes were low. Adherence rates to the exercise programme were high (78.8% of participants reported completion of at least 78% of the prescribed sessions). Participants in the intervention group demonstrated significant improvement in stride time CV (95% CI (-11.5, -0.6))based on complete case analysis. Significant differences between groups were also observed in the disease-specific motor scale and in measures of balance, mobility,community walking and functional performance in ADL, but not muscle strength and health-related quality of life. Effect sizes were large (>0.8) for the majority of the outcomes. The magnitude of the change as a result of the exercise intervention exceeded the calculated MDC95 values for some of the outcomes, which suggest that most of the observed changes are clinically meaningful. Qualitative feedback from the participants who completed the exercise programme suggested high levels of acceptability with positive impact on general health and mobility. Participants identified barriers and facilitators that affected performing the exercises at home and described management strategies that helped adherence to the exercise programme. Conclusions: This study was the first systematic trial to demonstrate that a short-term structured exercise programme is acceptable and can be safely delivered in a home environment; achieve good adherence; and positively affect body function and activity in people with HD. The sensitivity of the outcomes as determined in the cross-sectional study, to mobility deficits the in pre-manifest HD group is important. These outcomes has the potential to be used in future studies of exercise interventions in the premanifest stage which aim to target such deficits early in the disease life cycle, before they begin to impact on a person.s ability to participate in the community. Overall the data presented from this study provides a platform for further investigations to extend these findings about the role of exercise and physical activity in people with HD. Larger and more detailed studies are needed to replicate findings from this study in othercontexts and variations in dose

NEW FRONTIERS IN THE COGNITIVE ASSESSMENT OF AMYOTROPHIC LATERAL SCLEROSIS: BRAIN COMPUTER INTERFACE AND EYE TRACKING

Background: Over the last 20 years, cognitive and behavioural alterations in amyotrophic lateral sclerosis (ALS) have been recognized as an integral part of the disease. A proportion of patients present with a full-blown frontotemporal dementia syndrome, while selective cognitive changes are more commonly found, especially regarding frontal-executive abilities. Moreover, recent studies have highlighted a broader cognitive involvement in this population, concerning language and social cognition. Despite the increased awareness of ALS as a multisystem disorder and the importance of an accurate cognitive evaluation of these patients, the traditional neuropsychological \u2018paper and pencil\u2019 tools do not compensate for patients\u2019 physical disability and can not be adequately used in the moderate-advanced stages of the disease. Objective: To investigate the use of P300-based Brain Computer Interface (BCI) and Eye Tracking (ET) technology for the administration of motor-verbal free cognitive measures in ALS. Materials and Methods: 34 patients diagnosed with ALS and 30 healthy subjects have been recruited. All participants underwent the BCI and ET-based neuropsychological assessment, together with three traditional cognitive screening tools (Frontal Assessment Battery - FAB; Montreal Cognitive Assessment \u2013 MoCA; Working Memory subtest of the Brief Assessment of Cognition in Schizophrenia), two psychological questionnaires (Beck Depression Inventory - BDI; State-Trate Anxiety Inventory - STAI-Y) and a usability questionnaire. For patients, also respiratory examination was performed, and the Frontal Behavioural Inventory - FBI was carried out with caregivers. Results: Significant correlations were observed between the traditional cognitive measures and the BCI- and ET-based neuropsychological assessment, mainly concerning accuracy and time-related variables in the ALS patients sample. Patients provided comparable rates than controls with regard to the BCI and ET usability. Conclusions: The developed motor-verbal free neuropsychological battery allows a longitudinal cognitive assessment during the course of the disease, also when traditional measures are not fully administrable, providing relevant information for clinical practice and ethical issues. Further work will be aimed at refining the developed system and enlarging the cognitive spectrum investigated

Holistic System Design for Distributed National eHealth Services

publishedVersio

The health and care of children with Down Syndrome

Down Syndrome (DS) affects ~10,500 children in the UK. Individuals with DS continue to have poorer health outcomes compared with the general population, and other forms of intellectual disability. By systematically mapping two decades of paediatric DS literature, I found a general decline in the number of publications, since 2014. The majority of publications utilised observational methodologies, with few interventional (5.6%) or qualitative/mixed-method studies (4.3%). Most publications focused on development & cognition, oncology and neurology; relatively few looked at the prevalence of morbidities and health surveillance. Using a large electronic health record dataset I determined the prevalence of morbidities among individuals with DS (N=4,648, age range 0-75 years), and compared with matched controls. The most prevalent morbidities in the DS cohort were hypothyroidism (30.4%), congenital cardiac disease (27.8%), epilepsy (21.9%) and hearing impairment (19.2%). We also found an increased risk of autism (aOR 7.7), chronic kidney disease (aOR 2.3), inflammatory bowel disease (aOR 2.4), non-accidental injury (aOR 1.9), sleep disordered breathing (SDB) (aOR 6.6) and vitamin-D deficiency (aOR 3.1). Finally, I explored current practice with regard to the routine health surveillance of children with DS, in paediatric departments across the UK. Sixty four departments returned a copy of their local health surveillance protocol. Practice was compared across departments, and with three national guidelines. For congenital cardiac disease, hypothyroidism and hearing/visual impairment, practice appeared to be consistent and compliant with national guidelines. However, in other areas (echocardiogram at transition, SBD, vitamin-D deficiency & renal/liver function), practice was patchy and inconsistent. The findings highlight a need for ongoing research in the field of paediatric DS, targeted at areas of greatest need, and those morbidities which are prevalent in the DS cohort. Furthermore, our findings highlight a need a single, evidence based guideline for the health surveillance of children with DS, to promote high quality, consistent care

Shelter and care of persons with dementia

TABLE OF CONTENTS: INTRODUCTION; PART I: SPECIALIZED CARE IN INSTITUTIONAL SETTINGS: 1. Basic Facts and Figures about Dementia Patients in Institutions / Kimberley L. McEwan, David Maxwell and Gloria M. Gutman; 2. Characteristics of Six Special Care Units in British Columbia / Gloria M. Gutman and Judy Killam; 3. Comparison of Care Practices for Persons with Dementia Living on and Outside Special Care Units in Ontario\u27s Homes for the Aged / Darlene Flett and Christine K Davis; 4. Le Chez Nous : Accommodation with a Difference for Cognitively Impaired Persons in Rural Manitoba / Ulysses Lahaie and Jacqueline Theroux. PART II: BEHAVIOURAL INTERVENTIONS AND ENVIRONMENTAL DESIGN ISSUES: 5. Non-pharmacological Approaches to Management of Patient Behaviour: A Focus on Behavioural Intervention for Depression in Dementia / Linda Teri; 6. Behaviour and Use of Space by Residents of Special Care and Integrated Nursing Home Units / Allen R. Dobbs and Brendan G. Rule; 7. Wandering Tracks: Environmental Strategies That May Work Too Well / Doris L. Milke; 8. Designing Facilities for People with Dementia: A New Resource for Planners and Caregivers / Thomas J. Lips. PART III: INSTITUTION - COMMUNITY COOPERATION AND COLLABORATION: 9. The Organization and Coordination of Psychiatric Services for the Elderly in an Urban Setting / Kenneth I. Shulman and Carole A Cohen; 10. Organization and Coordination of Services to Individuals with Dementia Living in Rural Settings / Connie J. Sarchuk and Peter Wiebe; 11. The Bethania Special Care Resource Team / L Craig Turner and Barbara J. Graham. PART IV: FACILITATING SHELTER AND CARE AT HOME: 12. Adapting the Home to Meet the Needs of Persons with Dementia and Their Family Caregivers / Nancy Gnaedinger; 13. The Alzheimers\u27 Family Care Centre - Daycare with a Difference / Laurie-Anne Keith and Deborah Rutman; 14. Respite Care: What Are the Options? / DouglasH. Rapeije

Outcomes for young carers: public and third sector provision in Wales, UK

Young carers are those under the age of 18 who provide unpaid care for an adult or child in need of support. The 2011 Census estimated that there were over 11,000 in Wales (Office for National Statistics, 2013) but research suggests that there are many more unidentified. They can be adversely affected by their caring role yet there is a weak evidence base for services and predictors of outcomes. This thesis aimed to explore service provision and outcomes for young carers. It also aimed to identify associations between outcomes and biographical characteristics or caring factors. To meet the aims of the study a mixed methods approach was adopted although the quantitative approach dominated (see section 6.1 for more details). This included a review of literature and two sequential data collection phases.Phase 1 aimed to map and evaluate extent of existing provision for young carers in Wales. Be-spoke questionnaires were completed by representative organisations (n=22) drawn from the two main service networks: Social Services (n = 12: 55% of all local authorities in Wales) and Young Carers Projects (n = 10).In response to Research Question about the development of provision, the results of Phase 1 indicated that the Projects, mostly delivered by the third sector, had developed as specialist support for young carers. There was common understanding and a high degree of co-operation between the statutory service and the Projects with some delegation of statutory functions. The stated objectives varied between Projects as did the evaluation of outcomes between sectors and between organisations and the data lacked comparability. Both statutory and third sector services suffered from lack of resources and the future of the Projects was far from stable.Phase 2 had two Research Aims. The first was to examine factors which influenced outcomes for young carers. The second was to evaluate the relative importance of factors. Published measures of4Educational Attainment (British Ability Scales), Emotional Literacy (SEMERC) and caring responsibilities (MACA-18) were administered alongside a be-spoke structured questionnaire to young carers (n = 62) from Projects (n=10) across Mid and South Wales. From the data sources, four outcome indices were calculated for the areas of Education, Emotional Literacy, Health and Social Capital. A Composite outcome index was also calculated.The results indicated that, on average, young carers’ Educational Attainment and Emotional Literacy were lower than those for age-matched peers in the general population. A worrying proportion had little or no social activities and personal hobbies outside school hours and outside time spent caring, with a consequent impact on their ability to acquire social capital. There appeared to be strong correlations between outcomes in Emotional Literacy, Health and Social Capital. Counter-intuitively some factors such as being a sole carer or entitlement to free school meals were not associated with any outcome indices.The strongest predictor of Composite outcomes was the quality of family relationships. Young carers who live in a family with poor quality of relationships are 46 times more likely to experience poor outcomes. Similarly, the higher the level of household responsibilities or emotional care, the more likely they are to experience adverse outcomes as reflected in their Composite index.The general findings suggest that a cross-cutting approach to policy on young carers requires monitoring in all policy areas. Since current provision leans heavily on the Projects, their funding needs to be reviewed at a strategic level. The large number of young carers still unidentified indicates that the capacity and effectiveness of the services need to be reviewed with other models of service considered. It is hoped that these findings will inform future policy formation and service planning

Comparing Latent Dirichlet Allocation and Latent Semantic Analysis as Classifiers

In the Information Age, a proliferation of unstructured text electronic documents exists. Processing these documents by humans is a daunting task as humans have limited cognitive abilities for processing large volumes of documents that can often be extremely lengthy. To address this problem, text data computer algorithms are being developed. Latent Semantic Analysis (LSA) and Latent Dirichlet Allocation (LDA) are two text data computer algorithms that have received much attention individually in the text data literature for topic extraction studies but not for document classification nor for comparison studies. Since classification is considered an important human function and has been studied in the areas of cognitive science and information science, in this dissertation a research study was performed to compare LDA, LSA and humans as document classifiers. The research questions posed in this study are: R1: How accurate is LDA and LSA in classifying documents in a corpus of textual data over a known set of topics? R2: How accurate are humans in performing the same classification task? R3: How does LDA classification performance compare to LSA classification performance? To address these questions, a classification study involving human subjects was designed where humans were asked to generate and classify documents (customer comments) at two levels of abstraction for a quality assurance setting. Then two computer algorithms, LSA and LDA, were used to perform classification on these documents. The results indicate that humans outperformed all computer algorithms and had an accuracy rate of 94% at the higher level of abstraction and 76% at the lower level of abstraction. At the high level of abstraction, the accuracy rates were 84% for both LSA and LDA and at the lower level, the accuracy rate were 67% for LSA and 64% for LDA. The findings of this research have many strong implications for the improvement of information systems that process unstructured text. Document classifiers have many potential applications in many fields (e.g., fraud detection, information retrieval, national security, and customer management). Development and refinement of algorithms that classify text is a fruitful area of ongoing research and this dissertation contributes to this area