328 resultados para Deficiência mental de herança ligada ao X

em Queensland University of Technology - ePrints Archive


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Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the 135 annotated genes located in the region. The gene (HADH2) encoding L-3-hydroxyacyl-CoA dehydrogenase II displayed a sequence alteration (c.574 C-->A; p.R192R) in all patients and carrier females that was absent in unaffected male family members and could not be found in 2,500 control X chromosomes, including in those of 500 healthy males. The silent C-->A substitution is located in exon 5 and was shown by western blot to reduce the amount of HADH2 protein by 60%-70% in the patient. Quantitative in vivo and in vitro expression studies revealed a ratio of splicing transcript amounts different from those normally seen in controls. Apparently, the reduced expression of the wild-type fragment, which results in the decreased protein expression, rather than the increased amount of aberrant splicing fragments of the HADH2 gene, is pathogenic. Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein.

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Objective: To identify service providers’ and community organisations’ perceptions of the resources available to support people with mental illness and the unmet needs of this client group in rural Queensland. Design: An exploratory study was undertaken involving focus group interviews across the study sites. Setting: Five regional towns in rural Queensland. Participants: Ten to 14 members were recruited for each of the five focus groups. The groups represented a diverse mix of participants including health and community service providers and representatives from community organisations. Results: Participants identified gaps in services in relation to health, employment and education, housing and accommodation, transport and social inclusion and health promotion. Inter-service communication and inappropriate funding models were themes affecting service delivery. Conclusions: Specific service issues of housing and transport were identified to be particularly problematic for people with mental illness across all towns. Intersectoral communication and funding models require further research.

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Objective: To examine the views of rural practitioners concerning issues and challenges in mental health service delivery and possible solutions. Design: A qualitative study using individual semi-structured interviews. Setting: Eight general practices from eight rural Queensland towns, three rural mental health services and two non-government organisations, with interviews being conducted before recent changes in government-subsidised access to allied health practitioners. Participants: A sample of 37 GPs, 19 Queensland Health mental health staff and 18 participants from community organisations. Main outcome measures: Analysis of qualitative themes from questions about the key mental health issues facing the town, bow they might be addressed and what challenges would be faced in addressing them. Results: There was substantial consensus that there are significant problems with inter-service communication and liaison, and that improved collaboration and shared care will form a critical part of any effective solution. Differences between groups reflected differing organisational contexts and priorities, and limitations to the understanding each had of the challenges that other groups were facing. C onclusions: Improvements to mental health staffing and to access to allied health might increase the ability of GPs to meet the needs of less complex patients, but specific strategies to promote better integrated services are required to address the needs of rural and regional patients with complex mental health problems. The current study provides a baseline against which effects of recent initiatives to improve mental health care can be assessed.

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Objectives: To determine opinions and experiences of health professionals concerning the management of people with comorbid substance misuse and mental health disorders. Method: We conducted a survey of staff from mental health services and alcohol and drug services across Queensland. Survey items on problems and potential solutions had been generated by focus groups. Results: We analysed responses from 112 staff of alcohol and drug services and 380 mental health staff, representing a return of 79% and 42% respectively of the distributed surveys. One or more issues presented a substantial clinical management problem for 98% of respondents. Needs for increased facilities or services for dual disorder clients figured prominently. These included accommodation or respite care, work and rehabilitation programs, and support groups and resource materials for families. Needs for adolescent dual diagnosis services and after-hours alcohol and drug consultations were also reported. Each of these issues raised substantial problems for over 70% of staff. Another set of problems involved coordination of client care across mental health and alcohol and drug services, including disputes over duty of care. Difficulties with intersectoral liaison were more pronounced for alcohol and drug staff than for mental health. A majority of survey respondents identified 13 solutions as practical. These included routine screening for dual diagnosis at intake, and a range of proposals for closer intersectoral communication such as exchanging client information, developing shared treatment plans, conducting joint case conferences and offering consultation facilities. Conclusions: A wide range of problems for the management of comorbid disorders were identified. While solution of some problems will require resource allocation, many may be addressed by closer liaison between existing services.

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Objectives: Recovery is an emerging movement in mental health. Evidence for recovery-based approaches is not well developed and approaches to implement recovery-oriented services are not well articulated. The collaborative recovery model (CRM) is presented as a model that assists clinicians to use evidence-based skills with consumers, in a manner consistent with the recovery movement. A current 5 year multisite Australian study to evaluate the effectiveness of CRM is briefly described. Conclusion: The collaborative recovery model puts into practice several aspects of policy regarding recovery-oriented services, using evidence-based practices to assist individuals who have chronic or recurring mental disorders (CRMD). It is argued that this model provides an integrative framework combining (i) evidence-based practice; (ii) manageable and modularized competencies relevant to case management and psychosocial rehabilitation contexts; and (iii) recognition of the subjective experiences of consumers.

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Aim: This paper is a report of a study to explore the phenomenon of resilience in the lives of adult patients of mental health services who have experienced mental illness. ---------- Background: Mental illness is a major health concern worldwide, and the majority experiencing it will continue to battle with relapses throughout their lives. However, in many instances people go on to overcome their illness to lead productive and socially engaged lives. Contemporary mental health nursing practice primarily focuses on symptom reduction, and working with resilience has not generally been a consideration. ---------- Method: A descriptive phenomenological study was carried out in 2006. One participant was recruited through advertisements in community newspapers and newsletters and the others using the snowballing method. Information was gathered through in-depth individual interviews which were tape-recorded and subsequently transcribed. Colaizzi's original seven-step approach was used for data analysis, with the inclusion of two additional steps. ---------- Findings: The following themes were identified: Universality, Acceptance, Naming and knowing, Faith, Hope, Being the fool and Striking a balance, Having meaning and meaningful relationships, and 'Just doing it'. The conceptualization identified as encapsulating the themes was 'Viewing life from the ridge with eyes wide open', which involved knowing the risks and dangers ahead and making a decision for life amid ever-present hardships. ---------- Conclusion: Knowledge about resilience should be included in the theoretical and practical education of nursing students and experienced nurses. Early intervention, based on resilience factors identified through screening processes, is needed for people with mental illness.

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There are increasing numbers of refugees worldwide, with approximately 16 million refugees in 2007 and over 2.5 million refugees resettled in the United States since the start of its humanitarian program. Psychologists and other health professionals who deliver mental health services for individuals from refugee backgrounds need to have confidence that the therapeutic interventions they employ are appropriate and effective for the clients with whom they work. The current review briefly surveys refugee research, examines empirical evaluations of therapeutic interventions in resettlement contexts, and provides recommendations for best practices and future directions in resettlement countries. The resettlement interventions found to be most effective typically target culturally homogeneous client samples and demonstrate moderate to large outcome effects on aspects of traumatic stress and anxiety reduction. Further evaluations of the array of psychotherapeutic, psychosocial, pharmacological, and other therapeutic approaches, including psychoeducational and community-based interventions that facilitate personal and community growth and change, are encouraged. There is a need for increased awareness, training and funding to implement longitudinal interventions that work collaboratively with clients from refugee backgrounds through the stages of resettlement.

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Objectives:  Comparatively few people with severe mental illness are employed despite evidence that many people within this group wish to obtain, can obtain and sustain employment, and that employment can contribute to recovery. This investigation aimed to: (i) describe the current policy and service environment within which people with severe mental illness receive employment services; (ii) identify evidence-based practices that improve employment outcomes for people with severe mental illness; (iii) determine the extent to which the current Australian policy environment is consistent with the implementation of evidence-based employment services for people with severe mental illness; and (iv) identify methods and priorities for enhancing employment services for Australians with severe mental illness through implementation of evidence-based practices. Method:  Current Australian practices were identified, having reference to policy and legal documents, funding body requirements and anecdotal reports. Evidence-based employment services for people with severe mental illness were identified through examination of published reviews and the results of recent controlled trials. Results:  Current policy settings support the provision of employment services for people with severe mental illness separate from clinical services. Recent studies have identified integration of clinical and employment services as a major factor in the effectiveness of employment services. This is usually achieved through co-location of employment and mental health services. Conclusions:  Optimal evidence-based employment services are needed by Australians with severe mental illness. Providing optimal services is a challenge in the current policy environment. Service integration may be achieved through enhanced intersectoral links between employment and mental health service providers as well as by co-locating employment specialists within a mental health care setting.

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Objective: This paper describes the first phase of a larger project that utilizes participatory action research to examine complex mental health needs across an extensive group of stakeholders in the community. Method: Within an objective qualitative analysis of focus group discussions the social ecological model is utilized to explore how integrative activities can be informed, planned and implemented across multiple elements and levels of a system. Seventy-one primary care workers, managers, policy-makers, consumers and carers from across the southern metropolitan and Gippsland regions of Victoria, Australia took part in seven focus groups. All groups responded to an identical set of focusing questions. Results: Participants produced an explanatory model describing the service system, as it relates to people with complex needs, across the levels of social ecological analysis. Qualitative themes analysis identified four priority areas to be addressed in order to improve the system's capacity for working with complexity. These included: (i) system fragmentation; (ii) integrative case management practices; (iii) community attitudes; and (iv) money and resources. Conclusions: The emergent themes provide clues as to how complexity is constructed and interpreted across the system of involved agencies and interest groups. The implications these findings have for the development and evaluation of this community capacity-building project were examined from the perspective of constructing interventions that address both top-down and bottom-up processes.

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Background Screening tests of basic cognitive status or ‘mental state’ have been shown to predict mortality and functional outcomes in adults. This study examined the relationship between mental state and outcomes in children with type 1 diabetes. Objective We aimed to determine whether mental state at diagnosis predicts longer term cognitive function of children with a new diagnosis of type 1 diabetes. Methods Mental state of 87 patients presenting with newly diagnosed type 1 diabetes was assessed using the School-Years Screening Test for the Evaluation of Mental Status. Cognitive abilities were assessed 1 wk and 6 months postdiagnosis using standardized tests of attention, memory, and intelligence. Results Thirty-seven children (42.5%) had reduced mental state at diagnosis. Children with impaired mental state had poorer attention and memory in the week following diagnosis, and, after controlling for possible confounding factors, significantly lower IQ at 6 months compared to those with unimpaired mental state (p < 0.05). Conclusions Cognition is impaired acutely in a significant number of children presenting with newly diagnosed type 1 diabetes. Mental state screening is an effective method of identifying children at risk of ongoing cognitive difficulties in the days and months following diagnosis. Clinicians may consider mental state screening for all newly diagnosed diabetic children to identify those at risk of cognitive sequelae.

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Objective: To explore psychosocial issues perceived to impact the mental health and well-being of resident (non-fly-in fly-out) mine workers at a local mine in regional Queensland. Design: A descriptive qualitative study using semistructured interviews. Setting: The research was conducted on-site at an opencut coal mine in regional Queensland. Participants: Ten miners (nine men) currently employed in workshop, production or supervisory roles. Main outcome measures: Self-reported issues affecting psychological well-being. Results: Participants’ occupation and the surrounding context appeared to have both positive and negative influences on their well-being. Overall findings could be grouped into four key themes: (i) the importance of relationships; (ii) the impact of lifestyle; (iii) work characteristics; and (iv) mental health attitudes. While not without strains on mental health, in general, participants reported that their current situation was superior to their previous mining jobs. This was attributed to close relationships among locally recruited workers, respect for management practices and rosters that allowed adequate sleep recovery and family time between shifts. Conclusions: This study is the first to examine mental health and well being in non-fly-in fly-out mining populations. It suggests that while some issues appear inherent in the mining occupation, personal and organisational support can help workers have a more positive workplace experience. Further work looking at more extensive comparisons over various mining contexts will greatly assist in the development of programs and support structures for rural and regional mine workers.

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Aim: This paper aims to explore new graduates experience working with clients with mental health issues using critical incident interviews. Methods: The qualitative research techniques were based on phenomenology. A purposive sample of 19 new graduate dietitians was drawn from a range of work settings and locations throughout Australia. Data was gathered using thirty minute Critical Incident Interviews. Audio-taped data was transcribed, coded to identify common themes, compared for congruence and then categorised into knowledge, skills and attitudes. Results: New graduates encountered a range of situations involving a variety of mental health, wellbeing, dietetic and clinical issues. Common themes highlighted the mental health knowledge, skills and attitudes required for entry-level dietitians which then informed the review of the National Competency Standards for Entry-Level Dietitians. Conclusion: New graduates encounter a variety of mental health and wellbeing issues in their everyday practice and therefore require training to address these situations competently.

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Dietitians play a key role in supporting and advocating for the physical health care of mental health (MH) consumers, with 68-80% seeing clients with associated depression issues in Australia. The DAA Mental Health Curricula Project found dietetic training in MH was inadequate and recommended increased MH education. A MH resource package was developed and sent to universities in 2010 for incorporation into teaching. The aim of this study was to assess dietetic students’ baseline MH knowledge, attitudes and exposure prior to dietetics coursework and package implementation. An online survey measured dietetic students’ mental health knowledge (MHK), attitudes towards mental illness (MHA) and previous exposure to mental illness. MHK was assessed by sixteen dietetics-specific questions. MHA were measured by Day’s Mental Illness Stigma Scale. Exposure was assessed using an adapted version of Eack’s Social Work Students’ Experiences with Schizophrenia questions. Fifty-nine dietetic students (30% response rate) from two universities were surveyed at the beginning of dietetic coursework. Survey responses revealed students had low MHK (mean 5.48, scale 0-16) with no significant difference between cohorts (p=0.67). Half of respondents (n=31) recorded never or rarely being in contact with people with mental illness. 82% of respondents (n=48) reported having no or little experience with mental illness. Data suggests low levels of sitgmatising attitudes about people with mental illness. Given the high prevalence of clients with MH issues in everyday dietetic practice, this study is a first step in addressing integration of MH education into dietetics training.