Cognitive decline in Huntington's disease expansion gene carriers

BACKGROUND: In Huntington's Disease (HD) cognitive decline can occur before unequivocal motor signs become apparent. As cognitive decline often starts early in the course of the disease and has a progressive nature over time, cognition can be regarded as a key target for symptomatic treatment. The specific progressive profile of cognitive decline over time is unknown. OBJECTIVE: The aim of this study is to quantify the progression of cognitive decline across all HD stages, from pre-motormanifest to advanced HD, and to investigate if CAG length mediates cognitive decline. METHODS: In the European REGISTRY study 2669 HD expansion gene carriers underwent annual cognitive assessment. General linear mixed models were used to model the cognitive decline for each cognitive task across all disease stages. Additionally, a model was developed to evaluate the cognitive decline based on CAG length and age rather than disease stage. RESULTS: There was significant cognitive decline on all administered tasks throughout pre-motormanifest (close to estimated disease onset) participants and the subsequent motormanifest participants from stage 1 to stage 4. Performance on the Stroop Word and Stroop Color tests additionally declined significantly across the two pre-motormanifest groups: far and close to estimated disease onset. The evaluation of cognition performance in relation to CAG length and age revealed a more rapid cognitive decline in participants with longer CAG length than participants with shorter CAG length over time. CONCLUSION: Cognitive performance already shows decline in pre-motormanifest HD gene expansion carriers and gradually worsens to late stage HD. HD gene expansion carriers with certain CAG length have their own cognitive profile, i.e., longer CAG length is associated with more rapid decline

Estrogen use and early onset Alzheimer's disease: a population-based study

Estrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5 years) and place of residence. Information on estrogen use and other risk factors were, for cases (n=109) and controls (n=119), collected from the next of kin by structured interview. The strength of the association between estrogen use and early onset Alzheimer's disease was studied using conditional logistic regression with adjustment for age and education level. There was an inverse association between estrogen use and early onset Alzheimer's disease (adjusted odds ratio 0.34; 95% confidence interval 0.12-0.94). The study therefore suggests that estrogen use is beneficial to Alzheimer's disease with early onset.


Comparison of Huntington's Disease in Europe and North America

© 2016 International Parkinson and Movement Disorder SocietyBackground: In a rare disorder such as Huntington's disease (HD), a global network of clinical trial sites with access to patients speeds up recruitment into clinical trials. The objective was to test the hypothesis that demographics, HTT genotype, clinical spectrum, and progression are similar in HD participants of two large observational HD studies, the European Huntington's Disease Network's European REGISTRY study and the North American COHORT study. Methods: REGISTRY cross-sectional data were available from a total of 7,384 participants (1,125 [15.2%] premanifest and 6,259 [84.8%] manifest HD). COHORT cross-sectional data from 1,499 participants at 44 study sites were available (175 pre-HD [11.7%], 1,324 manifest HD [88.3%]). Participants were assessed clinically using the Unified Huntington's Disease Rating Scale (UHDRS). Longitudinal data were available for total motor score and cognitive performance in more than 50% of REGISTRY participants and more than 70% of COHORT participants. Results: Demographics, HTT genotypes, phenotype, and progression were similar in the two studies. Patients in Europe were prescribed antidyskinetics more frequently, and antidepressants less frequently, than in North America. In either study, participants on antidyskinetic medication had higher UHDRS total motor scores, worse function assessment scores, and worse cognitive scores than those taking antidepressants or no medication. In contrast, motor, function assessment, and cognitive scores were broadly similar in participants taking antidepressants or no medication. The differences in cognitive performances between languages were small. Conclusions: Our data suggest that HD patients, and the way they are assessed, are similar across two continents with different cultures and languages.info:eu-repo/semantics/publishedVersio

Children's experiences of play therapy

M.A.This qualitative study will research five children's experience of long-term play therapy, from the perspective of the child. In exploring and describing the children's experience, the study will be a tentative delving into the 'inner workings' of one approach to play therapy, developed by this researcher in her private clinical practice. The research will aim to begin to make explicit the 'sub-text' of play therapy; that is, to give a voice to the child patient's usually unarticulated experience of the helping process. By directly researching the child's experience of play therapy from the perspective of the child, the study will represent a departure from the emphasis clinicians and researchers have historically placed on their theories and professional roles in therapeutic practice and discourse: Gardner, (1993) for example, in his account of the development of play therapy techniques in the twentieth century, reviews a broad range of classical and contemporary texts, all of which promote the central role of practitioners and their theories. Further, as noted by Spinelli (1994:77), "somewhat amazingly, given the large amount of studies dealing with therapy and therapists, there exist very few exhaustive studies that focus exclusively on the client's experience of therapy.

Cognitive decline in Huntington's disease expansion gene carriers

Background: In Huntington's Disease (HD) cognitive decline can occur before unequivocal motor signs become apparent. As cognitive decline often starts early in the course of the disease and has a progressive nature over time, cognition can be regarded as a key target for symptomatic treatment. The specific progressive profile of cognitive decline over time is unknown.Objective: The aim of this study is to quantify the progression of cognitive decline across all HD stages, from pre-motormanifest to advanced HD, and to investigate if CAG length mediates cognitive decline.Methods: In the European REGISTRY study 2669 HD expansion gene carriers underwent annual cognitive assessment. General linear mixed models were used to model the cognitive decline for each cognitive task across all disease stages. Additionally, a model was developed to evaluate the cognitive decline based on CAG length and age rather than disease stage.Results: There was significant cognitive decline on all administered tasks throughout pre-motormanifest (close to estimated disease onset) participants and the subsequent motormanifest participants from stage 1 to stage 4. Performance on the Stroop Word and Stroop Color tests additionally declined significantly across the two pre-motormanifest groups: far and close to estimated disease onset.The evaluation of cognition performance in relation to CAG length and age revealed a more rapid cognitive decline in participants with longer CAG length than participants with shorter CAG length over time.Conclusion: Cognitive performance already shows decline in pre-motormanifest HD gene expansion carriers and gradually worsens to late stage HD. HD gene expansion carriers with certain CAG length have their own cognitive profile, i.e., longer CAG length is associated with more rapid decline. (C) 2017 Elsevier Ltd. All rights reserved