Client Empowerment and Quality Assurance

Measurements of quality in social care services in the UK have generally been concerned with regularly measuring performance in terms of Quality Indicators or Best Value reports. Although these quality measures quite often involve user satisfaction surveys, the methodology does not allow for the user to give a holistic response about the service they have received nor is there any sense of client empowerment around measuring quality in this way. What is not measured is the link between quality assurance, quality enhancement and client empowerment, nor whether empowerment is defined as a process, an intervention or an outcome. This paper utilises qualitative methodologies that enables users and carers to tell their own stories and suggests that client empowerment as a process is central to the future direction of quality assurance and quality enhancement policies in the UK and in an international context. These studies of users' and carers' experiences of care in the UK and Eastern Europe involved over 500 individuals utilising an approach that allowed them to explain their experiences of the public care sector from their own perspective (Dowling 1997). In one follow up study, parents of children with disabilities designed the research tool and were involved in disseminating the findings from the research to social care organisations and the Social Care Institute for Excellence, (a government research organisation to promote innovative research that involves users and carers) (Dowling and Dolan 2001). The UNICEF research (2005) aims to utilise users and carers' experiences and views of their care to contribute to governments' polices concerning child disability and follow up qualitative research to this study is currently progressing in Bosnia, Bulgaria and Latvia. Users of welfare services are the least powerful of groups in whichever country is being studied. In terms of age, gender, material resources, class, education, ethnicity and disability they are likely to be in the most excluded section of their society although professionals who work with them and the staff who organise and develop services are often under paid and have low status too. The quality of social care services is considered in relation to three crucial issues: How can quality be measured? How can social service users and carers contribute to a quality service? How can the quality of services be improved so that innovative, participative and ongoing measurement of quality in social care organisations are developed through user and carer partnerships with social care managers and staff

To understand the meaning of disability for children, parents and providers in Bulgaria, Latvia and Russia

This research was commissioned by the UNICEF Innocenti Research Centre as part of a larger MONEE (Monitoring Eastern Europe) project covering countries in transition – the 27 nations of Central and Eastern Europe (CEE) and the Commonwealth of Independent States (CIS). The MONEE Social Report combines qualitative and quantitative material in the 2005 Publication 'Children and Disability in Transition' (www.unicef-icdc.org) This paper is concerned with analysing in depth the findings from the qualitative research as the basis for recommendations that keep the voices of children, young people, families and medical and social care providers at the heart of the policy process. This research was conducted in three countries – Russia, Latvia and Bulgaria. The reason for choosing these three countries in consultation with the networking group included the issue of children's rights for children with disabilities in Russia which has been widely reported (UNICEF 1999, 2003). As the largest CIS country, Russia's influence in policy and practice in other neighbouring countries is likely to be significant. Latvia was one of the CEE countries who joined the EU in May 2004 and Bulgaria hope to join the EU in 2007. Thus these three countries are in different stages of transition. The organisations and systems for supporting disabled children are likely to be influenced by political and market transitions and these three countries are interesting examples from which to explore the concept of transition as it relates to disabled children and their families. The theoretical model that informs this research is concerned with applying the social model of disability to families rather than individuals. The structures, policies and processes that cause frustration and disappointment affect the whole family not just the disabled child (Dowling and Dolan 2001). The social model applied in this context aims to combat the past medical and educational ideology of 'defectology' – seeing children with disabilities as defective models – which has been evidenced particularly in Russia but also all other former communist countries (Grigorenko 1998). Defectology as a professional discourse has isolated children from their families and created hostility between medical providers and parents who believe that their disabled children have been taken away from them because professionals believed it was in the best interests of their child to do so. Many of the challenges that are described by children, young people, parents and providers are challenges that need social policy not medical solutions. Medical solutions are also very important for these children. However equally important is the need for medical and social practitioners to work alongside each other, despite their professional and theoretical differences, to provide the best social, emotional and physical opportunities for children with disabilities

Parents Participation in the Social Inclusion of Children with Disabilities in Bosnia and Herzegovina and Croatia

Young children with disabilities frequently face stigmatization; they are more prone to exclusion, abandonment and institutionalisation—often leaving their developmental needs unmet. Equally, the parents of children with disabilities can face isolation and poverty as they attempt to negotiate adequate services for their children to enable them to reach their potential.Segregated special education kindergartens and schools, although often focussed on meeting children's needs, can in fact exacerbate children's isolation in society. The Early Childhood Program at Open Society Foundations strongly advocates for inclusive access to education and children's services as outlined in the UN Convention of the Rights of Persons with Disabilities. Recognising parents as experts on the barriers to full inclusion that their children face, the Early Childhood Program believes that family involvement is paramount in promoting inclusive practices. This report on the attitudes and actions of parents of children with disabilities in Bosnia and Herzegovina and Croatia, researched by the Open University with support from the Open Society Foundations, highlights the importance of parent's organisations as a resource and support network for children and parents alike. It also emphasises the potential of parents groups to become powerful advocates for inclusive education

Parent's participation in the social inclusion of children with disabilities in Bosnia and Herzegovina and Croatia

This study examines the attitudes and actions of parents of children with disabilities in Bosnia and Herzegovina (BiH) and Croatia. Part of the former Yugoslavia, these two South-eastern European countries have undergone major economic and socio-political changes since the early 90s. Historically disabled children with disabilities suffered high levels of social and educational exclusion in these countries whereas now a public discussion of inclusion and children’s rights prevails (Burke, 1994; UNICEF, 2005, 2007; Carter, 2005, Becirevic and Tsokova, 2009; UNICEF, 2010). To what extent this new rhetoric is reflected in practice and professional discourse varies as shown in this report. Based on participative qualitative methodology, 89 parents of disabled children in BiH and Croatia shared their views, and discussed their actions in relation to the care and support available for their children. The study has identified promising examples of inclusion, grassroots parents’ activism and models of cooperation between parents and practitioners. Parents in both countries were generally dissatisfied with: medical care and disability assessments; their relationships with professionals and the lack of support at the time of diagnosis and prognosis. Some were more satisfied with their children’s inclusion in early education and primary schools and all were very satisfied with the role of parents’ organisations in relation to care and advocacy. Parents’ organisations were unanimously viewed as a valuable resource for both parents and children, often serving as a first point of reference for a family as well as helping overcome gaps in state services. This study has identified an important principle - that parents’ organisation can serve an a vehicle for inclusion, and more state and international resources need to be invested in supporting advocacy and capacity building of these organisations

Social work and poverty : attitudes and actions.

This study has investigated to what extent social workers' attitudes to poverty have been translated into actions. Factors which have affected social workers' ability to turn attitudes into actions have included: the restructuring of welfare, which has involved social service cutbacks and financially restrictive social security policies; and social workers' subjective norms and behavioural controls. The study also includes a consideration of the ways in which social workers aid social service users with financial difficulties - through welfare rights advice and/or advocacy or direct cash payments. It is suggested that social workers are increasingly being expected to collude with the DSS' functions of income maintenance and therefore their role as welfare rights advocates/advisers can be compromised. However social service users' increasing poverty indicate that social work help with financial and material needs may be an important part of the social work task from a consumer's perspective, both in training and in work. Social work students had more positive attitudes than social workers towards dealing with poverty in practice, and were critical of the social control functions of social workers in relation to income maintenance. However, they were not similarly subject to the controls and norms of social work institutions. The poverty awareness programme created as a result of the fieldwork findings, allows social workers and social work students to be more aware of conflicts between attitudes and actions, and fulfils students' needs for an understanding of poverty that integrates theory and practice. Some social service users constructed their financial problems differently from the way social workers perceived them. However users were generally grateful for any financial help or advice they received, but tended to find such help stigmatising. Some users had turned to welfare rights agencies for further financial advice where such agencies were available. Further research would need to evaluate: the effectiveness of poverty awareness programmes; the changing role of the social worker in relation to poverty in a developing social care market; and whether social security policies continue to put additional financial pressure on social service users and hence affect the role of the social worker in relation to financial need

Cellular Expression of Smarca4 (Brg1)-regulated Genes in Zebrafish Retinas

<p>Abstract</p> <p>Background</p> <p>In a recent genomic study, Leung et al. used a factorial microarray analysis to identify Smarca4 (Brg1)-regulated genes in micro-dissected zebrafish retinas. Two hundred and fifty nine genes were grouped in three-way ANOVA models which carried the most specific retinal change. To validate the microarray results and to elucidate cellular expression patterns of the significant genes for further characterization, 32 known genes were randomly selected from this group. <it>In situ </it>hybridization of these genes was performed on the same types of samples (wild-type (WT) and <it>smarca4^a50/a50</it>(<it>yng</it>) mutant) at the same stages (36 and 52 hours post-fertilization (hpf)) as in the microarray study.</p> <p>Results</p> <p>Thirty out of 32 riboprobes showed a positive <it>in situ </it>staining signal. Twenty seven out of these 30 genes were originally further classified as Smarca4-regulated retinal genes, while the remaining three as retinal-specific expression independent of Smarca4 regulation. It was found that 90.32% of the significant microarray comparisons that were used to identify Smarca4-regulated retinal genes had a corresponding qualitative expression change in the <it>in situ </it>hybridization comparisons. This is highly concordant with the theoretical true discovery rate of 95%. Hierarchical clustering was used to investigate the similarity of the cellular expression patterns of 25 out of the 27 Smarca4-regulated retinal genes that had a sufficiently high expression signal for an unambiguous identification of retinal expression domains. Three broad groups of expression pattern were identified; including 1) photoreceptor layer/outer nuclear layer specific expression at 52 hpf, 2) ganglion cell layer (GCL) and/or inner nuclear layer (INL) specific expression at both 36 & 52 hpf, and 3) GCL and/or INL specific expression at 52 hpf only. Some of these genes have recently been demonstrated to play key roles in retinal cell-type specification, differentiation and lamination. For the remaining three retinal-specific genes that are independent of Smarca4 regulation, they all had a subtle expression difference between WT and <it>smarca4^a50/a50</it>retinas as detected by <it>in situ </it>hybridization. This subtle expression difference was also detected by the original microarray analysis. However, the difference was lower than the fold change cut-off used in that study and hence these genes were not inferred as Smarca4-regulated retinal genes.</p> <p>Conclusions</p> <p>This study has successfully investigated the expression pattern of 32 genes identified from the original factorial microarray analysis. The results have demonstrated that the true discovery rate for identifying Smarca4-regulated retinal genes is 90.3%. Hence, the significant genes from the microarray study are good candidates for cell-type specific markers and will aid further investigation of retinal differentiation.</p

Multi-parametric single cell evaluation defines distinct drug responses in healthy hematologic cells that are retained in corresponding malignant cell types

Innate drug sensitivity in healthy cells aids identification of lineage specific anti-cancer therapies and reveals off-target effects. To characterize the diversity in drug responses in the major hematopoietic cell types, we simultaneously assessed their sensitivity to 71 small molecules utilizing a multi-parametric flow cytometry assay and mapped their proteomic and basal signaling profiles. Unsupervised hierarchical clustering identified distinct drug responses in healthy cell subsets based on their cellular lineage. Compared to other cell types, CD19+/B and CD56+/NK cells were more sensitive to dexamethasone, venetoclax and midostaurin, while monocytes were more sensitive to trametinib. Venetoclax exhibited dose dependent cell selectivity that inversely correlated to STAT3 phosphorylation. Lineage specific effect of midostaurin was similarly detected in CD19+/B cells from healthy, acute myeloid leukemia and chronic lymphocytic leukemia samples. Comparison of drug responses in healthy and neoplastic cells showed that healthy cell responses are predictive of the corresponding malignant cell response. Taken together, understanding drug sensitivity in the healthy cell-of-origin provides opportunities to obtain a new level of therapy precision and avoid off-target toxicity.Peer reviewe

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Abstract Background Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. Objective We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. Results 16 patients from 8 families of 8 different ethnic backgrounds were included. 1 patient was asymptomatic when diagnosed at age 3 weeks. 15 patients diagnosed between 16 months and 25 years of life had intellectual disability/developmental delay (IDD). 8 patients also had myopathy/proximal muscle weakness. Common biochemical denominators were low/undetectable guanidinoacetate (GAA) concentrations in urine and plasma, and low/undetectable cerebral creatine levels. 3 families had protein truncation/null mutations. The rest had missense and splice mutations. Treatment with creatine monohydrate (100–800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy. The 2 patients treated since age 4 and 16 months had normal cognitive and behavioral development at age 10 and 11 years. Late treated patients had limited improvement of cognitive functions. Conclusion AGAT deficiency is a treatable intellectual disability. Early diagnosis may prevent IDD and myopathy. Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

IMPORTANCE: Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis and prognosis uncertain, underscoring the need for rapid elucidation of the underlying genetic cause of disease. OBSERVATIONS: The clinical application of exome sequencing or genome sequencing has dramatically improved the timely yield of diagnostic testing for neonatal hypotonia, with diagnostic rates of greater than 50% in academic neonatal intensive care units (NICUs) across Australia, Canada, the UK, and the US, which compose the International Precision Child Health Partnership (IPCHiP). A total of 74% (17 of 23) of patients had a change in clinical care in response to genetic diagnosis, including 2 patients who received targeted therapy. This narrative review discusses the common causes of neonatal hypotonia, the relative benefits and limitations of available testing modalities used in NICUs, and hypotonia management recommendations. CONCLUSIONS AND RELEVANCE: This narrative review summarizes the causes of neonatal hypotonia and the benefits of prompt genetic diagnosis, including improved prognostication and identification of targeted treatments which can improve the short-term and long-term outcomes. Institutional resources can vary among different NICUs; as a result, consideration should be given to rule out a small number of relatively unique conditions for which rapid targeted genetic testing is available. Nevertheless, the consensus recommendation is to use rapid genome or exome sequencing as a first-line testing option for NICU patients with unexplained hypotonia. As part of the IPCHiP, this diagnostic experience will be collected in a central database with the goal of advancing knowledge of neonatal hypotonia and improving evidence-based practice

Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration

Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic ‘gain of function’, such as the dominant P23H rhodopsin mutation that causes retinitis pigmentosa (RP). Here, we tested whether the AMPK activator metformin could affect the P23H rhodopsin synthesis and folding. In cell models, metformin treatment improved P23H rhodopsin folding and traffic. In animal models of P23H RP, metformin treatment successfully enhanced P23H traffic to the rod outer segment, but this led to reduced photoreceptor function and increased photoreceptor cell death. The metformin-rescued P23H rhodopsin was still intrinsically unstable and led to increased structural instability of the rod outer segments. These data suggest that improving the traffic of misfolding rhodopsin mutants is unlikely to be a practical therapy, because of their intrinsic instability and long half-life in the outer segment, but also highlights the potential of altering translation through AMPK to improve protein function in other protein misfolding diseases