Quality of life in autistic spectrum disorder

The limitations of using survival rates and symptom levels as the only outcome variables in clinical practice and research have become evident, particularly with people who have a lifelong and incurable disorder, such as Autistic Spectrum Disorder (ASD). For them, a more important consideration may be whether an intervention has the result of making life more of less 'worth living'. As such, quality of life (QOL) is increasingly seen as a key consideration in evaluating services, the ethical debate regarding health care resource allocation, when testing the effectiveness of new treatments and the development of clinical guidelines for these groups of people. However, factors contributing to QOL for people with ASD are not yet understood, and have to date received little attention by researchers. As such, there is currently no ASD-specific QOL assessment scale described in the literature. This thesis describes the development and validation of such a scale.The research presented here included 15 adults with a diagnosis of Asperger's Syndrome, High-Functioning Autism and High-Functioning ASD without a learning disability associated with Grampian Autistic Society, a family member or key worker for participants, 15 control participants attending a local community centre, and professionals within the field of ASD. The scale development was based on the literature of QOL assessment in other relevant disorders. Face/content validity was investigated through a developed feedback questionnaire given to the participants with ASD, their indentified proxies and the professionals in the field (n=46). There is currently no 'gold standard' for measuring QOL in ASD. Therefore, in order to investigate the concurrent validity of the QOL-ASD, the well-established generic measures WHOQOL-BREF and EQ-5D were used (n=30). To assess the QOL-ASD's test-retest validity, the scale was given again to the participants 7 days after the initial assessment (n=30).Due to the small number of participants included, the results presented here should be interpreted with caution, and could be considered as a pilot of a larger scale study. These results indicate that the QOL-ASD has good face/content validity, good concurrent validity, good test-retest validity and good internal consistency. A significant positive relationship between the QOL-ASD and age was detected.The preliminary results of the research into the QOL-ASD indicate that this scale is valid and reliable as a tool to measure QOL in ASD, and as such some evidence has been found to support its use in clinical practice and research with this group

«When mom and dad are fighting»: Child welfare and family welfare’s child perspective in high conflict cases – a cooperation?

BSV5-30

Case-finding of dementia in general practice and effects of subsequent collaborative care; design of a cluster RCT

<p>Abstract</p> <p>Background</p> <p>In the primary care setting, dementia is often diagnosed relatively late in the disease process. Case finding and proactive collaborative care may have beneficial effects on both patient and informal caregiver by clarifying the cause of cognitive decline and changed behaviour and by enabling support, care planning and access to services.</p> <p>We aim to improve the recognition and diagnosis of individuals with dementia in general practice. In addition to this diagnostic aim, the effects of case finding and subsequent care on the mental health of individuals with dementia and the mental health of their informal carers are explored.</p> <p>Methods and design</p> <p>Design: cluster randomised controlled trial with process evaluation.</p> <p>Participants: 162 individuals ≥ 65 years, in 15 primary care practices, in whom GPs suspect cognitive impairment, but without a dementia diagnosis.</p> <p>Intervention; case finding and collaborative care: 2 trained practice nurses (PNs) invite all patients with suspected cognitive impairment for a brief functional and cognitive screening. If the cognitive tests are supportive of cognitive impairment, individuals are referred to their GP for further evaluation. If dementia is diagnosed, a comprehensive geriatric assessment takes place to identify other relevant geriatric problems that need to be addressed. Furthermore, the team of GP and PN provide information and support.</p> <p>Control: GPs provide care and diagnosis as usual.</p> <p>Main study parameters: after 12 months both groups are compared on: 1) incident dementia (and MCI) diagnoses and 2) patient and caregiver quality of life (QoL-AD; EQ5D) and mental health (MH5; GHQ 12) and caregiver competence to care (SSCQ). The process evaluation concerns facilitating and impeding factors to the implementation of this intervention. These factors are assessed on the care provider level, the care recipient level and on the organisational level.</p> <p>Discussion</p> <p>This study will provide insight into the diagnostic yield and the clinical effects of case finding and collaborative care for individuals with suspected cognitive impairment, compared to usual care. A process evaluation will give insight into the feasibility of this intervention.</p> <p>The first results are expected in the course of 2013.</p> <p>Trial registration</p> <p>NTR3389</p

The Mindful Healthcare Scale (MHS):Development and initial validation: The Mindful Healthcare Scale (MHS)

Objectives: Psychological flexibility is associated with reduced burnout and improved wellbeing in healthcare professionals. This paper outlines the development and initial validation of the Mindful Healthcare Scale (MHS), a novel measure of psychological flexibility in healthcare professionals. Methods: This paper comprises of three studies drawing on the following samples. Sample 1 (n = 480) and Sample 2 (n = 196) were cross-sectional samples of healthcare professionals. Sample 3 (n = 162) was the baseline sample of a longitudinal study who were followed up after a six-month interval. Seventy-seven participants of sample 3 provided test-retest data at six months. Classical test theory was used to evaluate the psychometric properties of the Mindful Healthcare Scale. Sample One was used to conduct an exploratory factor analysis. A confirmatory factor analysis was undertaken in sample two. Sample two and three were used to test the convergent validity and concurrent validity of the MHS via corelation with measures of burnout, wellbeing, general psychological flexibility, and self-compassion. Incremental validity of the MHS was assessed in predicting wellbeing and burnout after controlling for general psychological flexibility. The sub sample of Sample 3 was used to assess test-retest reliability. Results: In study one, exploratory factor analysis led to a three-factor structure that was labelled ‘engaged’, ‘awareness’, and ‘defusion’. In study two, confirmatory factor analyses supported this model. Study 3 supported the convergent validity, construct validity, incremental validity and test-retest reliability of the MHS. Internal reliability was found to be good across all samples. Conclusions: The MHS is a psychometrically sound measure of psychological flexibility in healthcare contexts. It is hoped that this measure will contribute to research and practice that aims to understand and enhance the wellbeing and training of healthcare professionals.</p

Diagnostic and economic evaluation of new biomarkers for Alzheimer's disease: the research protocol of a prospective cohort study

Doc number: 72 Abstract Background: New research criteria for the diagnosis of Alzheimer's disease (AD) have recently been developed to enable an early diagnosis of AD pathophysiology by relying on emerging biomarkers. To enable efficient allocation of health care resources, evidence is needed to support decision makers on the adoption of emerging biomarkers in clinical practice. The research goals are to 1) assess the diagnostic test accuracy of current clinical diagnostic work-up and emerging biomarkers in MRI, PET and CSF, 2) perform a cost-consequence analysis and 3) assess long-term cost-effectiveness by an economic model. Methods/design: In a cohort design 241 consecutive patients suspected of having a primary neurodegenerative disease are approached in four academic memory clinics and followed for two years. Clinical data and data on quality of life, costs and emerging biomarkers are gathered. Diagnostic test accuracy is determined by relating the clinical practice and new research criteria diagnoses to a reference diagnosis. The clinical practice diagnosis at baseline is reflected by a consensus procedure among experts using clinical information only (no biomarkers). The diagnosis based on the new research criteria is reflected by decision rules that combine clinical and biomarker information. The reference diagnosis is determined by a consensus procedure among experts based on clinical information on the course of symptoms over a two-year time period. A decision analytic model is built combining available evidence from different resources among which (accuracy) results from the study, literature and expert opinion to assess long-term cost-effectiveness of the emerging biomarkers. Discussion: Several other multi-centre trials study the relative value of new biomarkers for early evaluation of AD and related disorders. The uniqueness of this study is the assessment of resource utilization and quality of life to enable an economic evaluation. The study results are generalizable to a population of patients who are referred to a memory clinic due to their memory problems. Trial registration: NCT0145089

Autoimmunity in Arabidopsis acd11 Is Mediated by Epigenetic Regulation of an Immune Receptor

Certain pathogens deliver effectors into plant cells to modify host protein targets and thereby suppress immunity. These target modifications can be detected by intracellular immune receptors, or Resistance (R) proteins, that trigger strong immune responses including localized host cell death. The accelerated cell death 11 (acd11) “lesion mimic” mutant of Arabidopsis thaliana exhibits autoimmune phenotypes such as constitutive defense responses and cell death without pathogen perception. ACD11 encodes a putative sphingosine transfer protein, but its precise role during these processes is unknown. In a screen for lazarus (laz) mutants that suppress acd11 death we identified two genes, LAZ2 and LAZ5. LAZ2 encodes the histone lysine methyltransferase SDG8, previously shown to epigenetically regulate flowering time via modification of histone 3 (H3). LAZ5 encodes an RPS4-like R-protein, defined by several dominant negative alleles. Microarray and chromatin immunoprecipitation analyses showed that LAZ2/SDG8 is required for LAZ5 expression and H3 lysine 36 trimethylation at LAZ5 chromatin to maintain a transcriptionally active state. We hypothesize that LAZ5 triggers cell death in the absence of ACD11, and that cell death in other lesion mimic mutants may also be caused by inappropriate activation of R genes. Moreover, SDG8 is required for basal and R protein-mediated pathogen resistance in Arabidopsis, revealing the importance of chromatin remodeling as a key process in plant innate immunity

Lazarus1, a DUF300 protein, contributes to programmed cell death associated with Arabidopsis acd11 and the hypersensitive response

shares genetic requirements for HR execution triggered by one subclass of R proteins. which encodes a protein with a domain of unknown function (DUF300), and demonstrate that LAZ1 contributes to HR PCD conditioned by the Toll/interleukin-1 (TIR)-type R protein RPS4 and by the coiled-coil (CC)-type R protein RPM1. Using a yeast-based topology assay, we also provide evidence that LAZ1 is a six transmembrane protein with structural similarities to the human tumor suppressor TMEM34. Finally, we demonstrate by transient expression of reporter fusions in protoplasts that localization of LAZ1 is distributed between the cytosol, the plasma membrane and FM4–64 stained vesicles.-related death. Furthermore, the similar topology of a plant and human DUF300 proteins suggests similar functions in PCD across the eukaryotic kingdoms, although a direct role for TMEM34 in cell death control remains to be established. Finally, the subcellular localization pattern of LAZ1 suggests that it may have transport functions for yet unknown, death-related signaling molecules at the plasma membrane and/or endosomal compartments. In summary, our results validate the utility of the large-scale suppressor screen to identify novel components with functions in plant PCD, which may also have implications for deciphering cell death mechanisms in other organisms