Dissertations / Theses on the topic 'Mental illness – Genetic aspects'
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Morgan, Vera Anne. "Intellectual disability co-occurring with schizophrenia and other psychiatric illness : epidemiology, risk factors and outcome." University of Western Australia. School of Psychiatry and Clinical Neurosciences, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0209.
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(Truncated abstract) The aims of this thesis are: (i) To estimate the prevalence of psychiatric illness among persons with intellectual disability and, conversely, the prevalence of intellectual disability among persons with a psychiatric illness; (ii) To describe the disability and service utilisation profile of persons with conjoint disorder; (iii) To examine, in particular, intellectual disability co-occurring with schizophrenia; and (iv) To explore the role of hereditary and environmental (specifically obstetric) risk factors in the aetiology of (i) intellectual disability and (ii) intellectual disability co-occurring with psychiatric illness. This thesis has a special interest in the relationship between intellectual disability and schizophrenia. Where data and sample sizes permit, it explores that relationship at some depth and has included sections on the putative nature of the link between intellectual disability and schizophrenia in the introductory and discussion chapters. To realise its objectives, the thesis comprises a core study focusing on aims (i) (iii) and a supplementary study whose focus is aim (iv). It also draws on work from an ancillary study completed prior to the period of candidacy...This thesis found that, overall, 31.7% of persons with an intellectual disability had a psychiatric illness; 1.8% of persons with a psychiatric illness had an intellectual disability. The rate of schizophrenia, but not bipolar disorder or unipolar major depression, was greatly increased among cases of conjoint disorder: depending on birth cohort, 3.7-5.2% of individuals with intellectual disability had co-occurring schizophrenia. Down syndrome was much less prevalent among conjoint disorder cases despite being the most predominant cause of intellectual disability while pervasive developmental disorder was over-represented. Persons with conjoint disorder had a more severe clinical profile including higher mortality rates than those with a single disability. The supplementary study confirmed the findings in the core body of work with respect to the extent of conjoint disorder, its severity, and its relationship with pervasive development disorder and Down syndrome. Moreover, the supplementary study and the ancillary influenza study indicated a role for neurodevelopmental insults including obstetric complications in the adverse neuropsychiatric outcomes, with timing of the insult a potentially critical element in defining the specific outcome. The supplementary study also added new information on familiality in intellectual disability. It found that, in addition to parental intellectual disability status and exposure to labour and delivery complications at birth, parental psychiatric status was an independent predictor of intellectual disability in offspring as well as a predictor of conjoint disorder. In conclusion, the facility to collect and integrate records held by separate State administrative health jurisdictions, and to analyse them within the one database has had a marked impact on the capacity for this thesis to estimate the prevalence of conjoint disorder among intellectually disabled and psychiatric populations, and to understand more about its clinical manifestations and aetiological underpinnings.
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Nowak, Lisa Rebecca. "Philosophical perspectives on the stigma of mental illness." Thesis, University of St Andrews, 2018. http://hdl.handle.net/10023/13193.
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This thesis is concerned with philosophical perspectives on the stigma of mental illness, with each chapter exploring different philosophical issues. Chapter one delineates the central concept around which the rest of the work revolves: the stigma of mental illness. It provides an outline of the stigma mechanism, how it applies to mental illness, why it is such a large public health concern and what has been done so far to combat it. Chapter two is concerned with the application of recent literature in the philosophy of implicit bias to the topic of mental illness. It suggests that we have hitherto been preoccupied with explicit formulations of the stigma mechanism, but argues that there are distinctive issues involved in combatting forms of discrimination in which the participants are not cognisant of their attitudes or actions, and that anti-stigma initiatives for mental illness should take note. Chapter three applies the philosophical literature concerning the ethics of our epistemic practices to the stigma of mental illness. It contains an analysis of how epistemic injustice- primarily in the forms of testimonial injustice and stereotype threat- affects those with mental illnesses. The fourth chapter brings in issues in the philosophy of science (particularly the philosophy of psychiatry) to explore the possibility of intervening on the stigma process to halt the stigma of mental illness. The first candidate (preventing labelling) is discounted, and the second (combatting stereotype) is tentatively endorsed. The fifth chapter is concerned with how language facilitates the stigma of mental illness. It suggests that using generics to talk about mental illness (whether the knowledge structure conveyed is inaccurate or accurate) is deeply problematic. In the former, it conveys insidious forms of social stereotyping. In the latter, it propagates misinformation by presenting the category as a quintessential one.
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Yee, Mean-Fong. "Dental Implications For The Patient With Mental Illness." Thesis, The University of Sydney, 1991. http://hdl.handle.net/2123/4960.
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Cheung, Po-tin Erik, and 張步田. "Cultural influences on attitudes towards mental illness in Asia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B26813749.
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Lim, Jeong-Eun. "Regulatory genetic variants in mental illness focus on serotonin-related genes /." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1196198735.
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Williams, William Paul. "Aspects of a psychiatric therapeutic milieu." Thesis, University of East London, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361850.
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Long, Vicky. "Changing public representations of mental illness in Britain, 1870-1970." Thesis, University of Warwick, 2004. http://wrap.warwick.ac.uk/1217/.
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This thesis uses Habermas' arguments concerning the public sphere and Nancy Fraser's concept of counter-public spheres as a framework to explore how changes in the representation of mental illness occurred between 1870 and 1970. Within this period, the nineteenth-century polarisation of sanity and madness that had led to the segregation of the mentally ill within the asylum gave way to the belief that mental health and illness formed a continuum. Psychiatry extended beyond the walls of the asylum into the community, expanding its scope to incorporate the nominally healthy. These developments, which culminated in the creation of community mental health services and the closure of the asylums, suggest that mental disturbance was no longer seen solely as the problem of sick individuals but of the public at large, and points to a potential destigmatisation of mental illness. To examine if the representation of mental illness matched these developments in practice and to explain why, this thesis studies how groups directly connected to the mentally ill, conceptualised as sub-public groups, sought to represent mental illness. The groups studied are the Medico-Psychological Association in Chapter One, the National Asylum Workers' Union in Chapter Two, The Association of Psychiatric Social Workers in Chapter Three and a charity, the Mental After Care Association, in Chapter Four. The fifth chapter explores patients and the representation of mental illness. It is argued that such sub-public groups helped initiate a debate about mental illness and enabled a broader spectrum of people to participate in the debate. However, it is suggested that private and professional motivations impinged upon how groups chose to represent the mentally ill. The thesis argues that the difficulties groups experienced balancing the representation of their own interests with those of the mentally ill, combined with the negative perceptions some sub-public groups held regarding the general public's capacity to participate in a debate on mental illness, obstructed their efforts to communicate with the public and to represent the interests of the mentally ill. Finally, the thesis uses the case study of the BBC to explore the factors that influenced the media to cover the issue of mental health and illness. This final chapter illustrates the interactions that occurred between media organisations and sub-public groups.
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Fincher, Cynthia Ellen. "Mental Status, Intellectual, and Mood States Associated with Environmental Illness Patients." Thesis, North Texas State University, 1991. https://digital.library.unt.edu/ark:/67531/metadc500843/.
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The purpose of the present study was to begin development of a psychological profile for environmentally ill patients. Existing psychiatric labels are unable to encompass these patients. Test scores were drawn from a pool of 89 patients whose environmental exposures were verified by the presence of toxins in the blood serum. A Mental Status Exam, a Wechsler Adult Intelligence Scale-Revised screen, and the Profile of Mood States were administered. Results indicate a primary pattern which is significantly different from test norms consisting of fatigue, reduced mental functioning, and a lack of psychotic or personality disorder indicators. The reported symptoms of environmentally ill patients were objectively verified by current psychological test instruments. The need for a new diagnostic category for people who have been poisoned by environmental toxins is discussed.
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Jenkinson, Crispin. "Social and psychological factors affecting the impact of painful chronic illness upon mental health." Thesis, University of Oxford, 1989. http://ora.ox.ac.uk/objects/uuid:2c6e33c7-4931-435c-bd60-d3958866087a.
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This thesis is a report of a study on patients suffering one of two painful chronic illnesses (rheumatoid arthritis (RA) or migraine), and attempts to discover possible determinants of psychological reactions to long term painful illness. One hundred and sixty chronically ill individuals were interviewed, (80 migraine and 80 RA sufferers). In keeping with other evidence, the extent of psychological disturbance was found to be higher for chronically ill individuals than for general population samples. There were no zero order correlations between reported pain and psychological distress. Age and length of suffering have often been cited as possible factors influencing mood state, but no evidence was found for this in the data gained in this survey. The results provide no evidence for the use of coping strategies as a method of adapting to the demands of the painful chronic illnesses studied here. Beliefs in control over illness have been posited as possible factors that may influence psychological state, and were measured in this research using a health locus of control scale. However locus of control scores were not found to be associated with mood state, although, in keeping with other research, scores were found to be associated with age and social class, with both lower social class and older sufferers scoring higher on externality than those from higher social classes, or whom were younger. The strongest association was found between aspects of subjective health status and mood state. The major finding of this study is that patients assessment of their own health state, in both illnesses, is the major factor associated with psychological state.
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Sun, Qi. "Assessing Social Determinants of Severe Mental Illness in High-Risk Groups." Thesis, University of North Texas, 2014. https://digital.library.unt.edu/ark:/67531/metadc500085/.
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The primary objective of this research was to explore the impact of possible social factors on non-institutionalized adults 18 years of age or older residing in the United States who exhibited severe mental illness (SMI). A holistic sociological model was developed to explain SMI by incorporating elements of social learning theory, social disorganization theory, and gender socialization theory with social demographic factors. Based on the holistic sociological model, the following factors were investigated: demographic aspects of age, education, income and gender; gender socialization; influence of neighborhood area; social network influence based on communication and interaction among peers and family members; and socially deviant behaviors such as frequently smoking cigarettes, drinking alcohol and using drugs specifically marijuana. The impact of these factors on SMI was examined. A sample of 206 respondents drawn from National Survey on Drug Use and Health, 2003 was assessed. These respondents had answered all the questions related to SMI; social deviant behaviors; neighborhood environment; and communications among peers, family members and friends; and the other studied factors. Ordinary linear regression with interaction terms was employed as a statistical tool to assess the impact of social determinants on SMI. Being female, living a disorganized neighborhood, and frequent and high levels of smoking cigarettes and drinking alcohol had a significant influence on SMI. This reevaluation and reexamination of the role of gender socialization path, socially deviant behaviors like smoking and drinking, and community construction on SMI provided additional insights. This research is one of the first to develop a more holistic sociological model on SMI and explored the previously untested interactive relationships. The limitations of this study suggest the need to test a potential recursive research model and explore additional bi-directional associations.
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Degenhardt, Louisa Psychology Faculty of Science UNSW. "Comorbidity between substance use and mental health in Australia: Relationships of alcohol, tobacco and cannabis use with other substance use and mental disorders." Awarded by:University of New South Wales. School of Psychology, 2001. http://handle.unsw.edu.au/1959.4/18247.
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Research into the comorbidity (or co-occurrence) of mental disorders is a relatively recent phenomenon. Much of this research has been conducted in clinical samples, which are prone to a range of biases that mean that the patterns observed are not representative of the general population. Although population-level research has previously been carried out, this thesis provides the first examination of comorbidity in the Australian population. This thesis examined the comorbidity of substance use and mental disorders among Australian adults. The major empirical work involved an examination of the patterns of homotypic comorbidity (other substance use disorders) and heterotypic comorbidity (mood disorders, anxiety disorders, and psychosis) of alcohol, tobacco and cannabis in the 1997 Australian National Survey of Mental Health and Well-Being (NSMHWB). These drugs were chosen as they are the most commonly used psychoactive substances in the Australian population. The NSMHWB involved a structured diagnostic interview of mental disorders with a representative sample of Australian adults. Three questions were addressed using this data: (1) What patterns of comorbidity exist between tobacco, alcohol and cannabis use, and other substance use and mental disorders?; (2) Are these patterns of comorbidity explained by common factors?; and (3) Does comorbidity affect the likelihood that mental health treatment has been sought? Similar patterns of homotypic comorbidity were observed for all three substances, and they were not explained by the other factors examined (gender, age, education, relationship status, employment and neuroticism). Cannabis dependence was the most strongly associated with other substance use disorders. Heterotypic comorbidity differed between alcohol, tobacco and cannabis use. Tobacco use predicted increased rates of all three groups of mental disorders (mood, anxiety and psychotic disorders). In the case of alcohol, only alcohol dependence was related to increased rates of all groups of mental disorders; alcohol use and abuse were not associated with heterotypic comorbidity. Any level of cannabis involvement was related to a similarly increased risk of mood and anxiety disorders. Cannabis use was linearly related to the risk of screening positively for psychosis. Common factors did not change the patterns of heterotypic comorbidity of tobacco and alcohol use. However, alcohol, tobacco and other drug use appeared to explain the higher rates of mood and anxiety disorders among cannabis users. Treatment seeking was much more likely among alcohol, tobacco and cannabis users when they had comorbid mental disorders. It was moderately increased when they had comorbid substance use disorders. The second piece of empirical work provided a more detailed examination of comorbid substance use problems among persons with psychosis. This topic was selected due to the limited epidemiological research on this issue, and the relatively large burden of disability that psychosis places upon the individual and the community. NSMHWB data were used to examine the prevalence of comorbid substance use disorders among persons who were likely to have met criteria for psychosis (as assessed by a screener used in the NSMHWB). Multiple regression analyses were used to test possible explanations for the higher rates of substance use disorders observed among persons reporting higher numbers of psychotic symptoms. The odds of alcohol dependence and regular tobacco use increased 1.5 times, and the odds of cannabis dependence increased twice, with each additional psychotic symptom reported, after adjusting for other substance use disorders, other mental disorders and demographic characteristics. Given the debate about the reasons for the association between cannabis use and psychosis, the final study used mathematical modelling to test four hypotheses about relationships between cannabis use and psychosis. Specifically, it examined trends in psychosis that would be predicted given the marked increases in the prevalence of cannabis use that have occurred in Australia over the past thirty years. The results suggested that a causal relationship - in which cannabis use caused psychosis among persons who would not otherwise have developed the disorder - is unlikely to explain the association. There was a better fit to the data provided by the other hypotheses examined, namely, that (a) cannabis use precipitates psychosis among vulnerable individuals; (b) cannabis use increases the risk of relapse among persons with psychosis; and (c) persons with psychosis are more likely to become regular cannabis users (without any effect upon the disorder). This thesis has demonstrated that in Australian adults there is significant comorbidity between alcohol, tobacco and cannabis use and other substance use and mental disorders. These patterns differ across the three substances. Some types of heterotypic comorbidity (e.g. between cannabis use and mood/anxiety disorders) are explained by common factors. The limited range of common factors tested here did not explain homotypic comorbidity. This thesis also suggested that mathematical modelling is a useful approach to consider when examining the plausibility of different relationships between risk factors and mental disorders. A number of hypotheses regarding comorbidity could not be tested using NSMHWB data, such as common genetic and other environmental factors. These can best be tested in research with samples of twins, and using longitudinal designs that assess a wide range of social and environmental factors. The findings of this thesis also have implications for treatment, because persons with comorbid disorders are more likely to seek treatment. There is an absence of validated treatments for persons with comorbid substance use and mental disorders, and more research is needed on this issue.
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Breen, Alison. "Experience of mental illness in the context of poverty and service reform." Thesis, Link to the online version, 2006. http://hdl.handle.net/10019/981.
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Samuriwo, Kuwandandishe Priscilla. "An exploration of methods used by Shona speaking traditional health practitioners in the prevention of mental illness." Thesis, University of Limpopo, 2018. http://hdl.handle.net/10386/2054.
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Thesis (M. A. (Clinical Psychology)) --University of Limpopo, 2018Studies by the World Health Organisation have shown that mental illness is an international health concern across the globe, with one in four people (25%) suffering from mental disorders in both developed and developing countries. In many African countries traditional health practitioners are the health care providers of choice for individuals, families and communities. The aim of this study was to explore methods used by Shona speaking traditional health practitioners in the prevention of mental illness in Bulawayo, Zimbabwe. A qualitative research design was used in the present study. Ten Shona speaking traditional health practitioners (male=9; female=1) were selected through purposive sampling and requested to participate in the study. Data was collected using semi-structured interviews and analysed through thematic content analysis. It was found that traditional healers tend to commonly understand and conceptualise mental illness in terms of the causes instead attaching nosological labels to these conditions. The findings of the study also show that most of the traditional health practitioners interviewed had similar methods of preventing mental illness both in families and individuals. Culture was found to be central in shaping how the traditional health practitioners understand and prevent mental illness. Ancestors were found to be pivotal in specifically determining the methods to prevent mental illness for each client. The study is concluded by recommending closer collaboration between the dominant Western health care system and traditional healing in order to improve mental health care provision in Zimbabwe.
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Welch, Mark, University of Western Sydney, and Faculty of Nursing and Health Studies. "Reel madness : the representation of madness in popular western film." THESIS_FNHS_XXX_Welch_M.xml, 1997. http://handle.uws.edu.au:8081/1959.7/705.
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This thesis considers the representation of madness in popular film, in the main from the Western canon and English speaking, and argues that madness is seen and represented as an extreme of human experience, a form of Otherness, which throws into relief notions of ontology, sanity and personal and cultural identity. It progresses from a consideration of the historical representations of madness and sanity in art and literature to a review of the pertinent literature on cinema and representation, and uses seminal examples from throughout cinematic history mostly from English language films, from 1906-1996, to illustrate the argument. Alternative methodological approaches are considered for the insights they may provide, and also for the contribution they make to the development of the thesis, in particular the influence of semiotics. A number of stereotypical portrayals of madness, such as the 'mad scientist', the 'crazed murderer', and the 'doomed heroic outsider' are examined in detail. Finally, the thesis proposes the way madness, and mad people, are represented in popular film is reflective and indicative of social and cultural concerns over what can be known, how identity can be established and what it means to live in the contemporary world fraught with uncertainty, anxiety and changeDoctor of Philosophy (Hons)
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Zhang, Ying. "Exploring functional genetic variants in genes involved in mental disorders." Columbus, Ohio : Ohio State University, 2007. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1186433668.
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Brans, Suzanne. "Applying the social cognitive and sociological models of stigma to student attitudes towards major depression and bipolar disorder." University of Western Australia. School of Psychology, 2009. http://theses.library.uwa.edu.au/adt-WU2009.0041.
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The aims of the current research program were to examine the social-cognitive and sociological models of stigma in relation to student attitudes towards an individual experiencing a mood disorder. Two experiments (Studies 1 and 2) sought to empirically distinguish between controllability and responsibility, both constructs of the attribution model which is subsidiary to the social-cognitive model of stigma. Despite manipulating controllability, participants were reluctant to attribute controllability of cause to individuals experiencing depression or bipolar disorder. The stability of beliefs about the controllability of cause for condition onset was consistent with research suggesting that the Australian public increasingly conceptualise mental disorders in terms of biochemical and genetic causal factors. These findings, in combination with past research linking biogenetic beliefs to negative attitudes, resulted in a change in focus of investigation in Studies 3, 4, 5 and 6 to explain why, contrary to the prediction of the attribution model, biogenetic explanations of mental disorders are associated with the proliferation of stigma. To measure causal beliefs, the Causal Belief Inventory (CBI) was developed in Study 3 and refined in Study 4. The correlational results examined in Studies 4, 5 and 6 found that genetic and biochemical causal beliefs were associated with a number of positive attitudes towards individuals experiencing a mood disorder and that genetic cause was associated with a reduced implicit bias against major depression. Furthermore, each study pointed to the centrality of judgments of differentness in determining affective responses and direct and proxy measures of behaviour. In contrast, manipulation of genetic and psychosocial cause in Study 5 found that causal condition largely failed to impact upon student attitudes. Mediator analysis did, however, find that beliefs about the stability of the vignette actor's condition fully mediated the relationship between the negative influence of genetic cause on proxy helping behaviour. Manipulation of psychosocial, genetic and biochemical cause with the inclusion of a non-depressed control in Study 6 resulted in more ambiguous findings. The combination of findings from Studies 1 to 6 suggest that focusing on the impact of the controllability of cause of depression onset on student attitudes is unwarranted. Instead researchers and public health educators should be examining models which facilitate the examination of the cognitive factors that mediate these relationships. Two such models, namely the social-cognitive and sociological models of stigma, were found to adequately fit the data. Recommendations for integrating these two models of stigma are discussed.
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Smit, B. L. "Knowledge and perceptions of University of Limpopo (Turfloop Campus) undergraduate students towards mental illness." Thesis, University of Limpopo, 2018. http://hdl.handle.net/10386/2338.
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Thesis (M. A. (Clinical Psychology)) --University of Limpopo, 2018Current understandings of mental illness are deeply rooted in a predominantly westernised paradigms of mental health. Constructs such as mental illness have been found to be socially constructed and rooted in historical contexts and informed by cultural and societal influences. Most of the existing research conducted on the knowledge and perceptions of tertiary-educated individuals towards mental illness have been quantitative in nature. The aim of this study was to qualitatively explore the knowledge and perceptions of undergraduates using Social Representation Theory as a theoretical framework. Purposive sampling was utilised to draw a sample of 16 undergraduate students between the ages of 18-25 years, at the University of Limpopo (Turfloop Campus). Thematic Content Analysis (TCA) was used to analyse the semi-structured interviews which were used to collect data. The results of this study found that negative views and perceptions existed amongst the sample pertaining to mental illness and the mentally ill. It was also found that participants conceptualisations of mental illness were not wholly western or traditionally African. Participants perceptions were informed through their cultural and social experiences with the mentally ill. Generally, the study pointed towards a greater need for psycho-education on mental illness.
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Moulding, Nicole. "Disciplining the feminine: the reproduction of gender contradictions in mental health care /." Title page, table of contents and abstract only, 2004. http://web4.library.adelaide.edu.au/theses/09PH/09phm9263.pdf.
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Sharples, Rosemary. "Negotiating 'normal' : space, illness and identity in an alternative mental health resource in Montreal." Thesis, McGill University, 2003. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=19743.
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This thesis investigates different spaces in the lives of a group of adults living with long-term mental illness in Montreal. In particular, it is interested in exploring the role and functions of an alternative mental health resource that they all attend, using their narratives as the basis of meaning construction. My intention is to illuminate the complex interplay of identity, social participation, and physical place itself in the 'space' of experience for individuals. The way that a description of one of these elements is often in relationship with the other two, and that these connections can be useful in understanding descriptions of experiences by individuals, which, in David Morris' terms occur in a, "realm beyond language" (1997:p29). Finally, the concept of the 'border' is proposed as a tool to reexamine culture, identity and space, and one that is particularly useful in the context of self-help groups.
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Ligthelm, Elizabeth. "Parental mental health and perceived parenting of children with disruptive behaviour disorders." Thesis, Nelson Mandela Metropolitan University, 2013.
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Disruptive behaviour disorders (DBDs) in children are among the most common referrals to mental health services and can lead to adverse psychosocial outcomes. There is consistent evidence that dysfunctional parenting, which has been associated with parental psychopathology, is a risk factor for the onset of these disorders. Yet, few studies have explored a wide range of parental pathology and parenting behaviours as well as perceptions of mental health and parenting of the parents of children with DBDs. This study, which took the form of a multiple case study, aimed to explore and describe the mental health and parenting of parents of pre-adolescent and adolescent children with DBDs. It also aimed to explore and describe parental perceptions of their own mental health and parenting and how (or if) they perceive their mental health as influencing their parenting. Purposive sampling was used to select participants and the sample size was determined through data saturation. Data was collected via the Millon Clinical Multiaxial Inventory and a semi-structured interview. Thematic content analysis and cross-case synthesis were used to analyse the data. The participants’ personality profiles indicated the presence of moderate to severe pathology including personality disorders and clinical disorders. Parenting themes that emerged included a number of dysfunctional parenting behaviours. The parents showed an awareness of their mental health and perceived it as influencing their parenting. This study emphasised the importance of exploring mental health and parenting interventions for parents of children with DBDs. The biggest limitations of this study was the small sample size.
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Lau, Ping-kei Simon, and 劉炳麒. "Attitudes toward the mentally handicapped." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1994. http://hub.hku.hk/bib/B31249814.
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Alvarado, Chavarría María Jimena. "Let's Try to Change It: Psychiatric Stigmatization, Consumer/Survivor Activism, and the Link and Phelan Model." PDXScholar, 2012. https://pdxscholar.library.pdx.edu/open_access_etds/904.
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Stigma has been described as the most significant obstacle to quality of life for individuals with major psychiatric diagnoses (Sartorious, 1998). Much of the psychological literature on stigma focuses on individual attributes and interactions at the micro level, rather than macro level dynamics. In critiquing this traditional focus, Link and Phelan (2001) present a model in which stigma ensues when labeling, stereotyping, separation, status loss, and discrimination co-occur in a situation of power imbalance. Even as the model fills a gap in conceptualizing stigma, its emphasis on power is unidirectional and fails to account for power as a form of resistance to stigmatization. This study explores the question of how a consumer/survivor activist perspective can inform the Link and Phelan model of stigma. A semi-structured interview methodology was used to gather qualitative data on the perspectives of 10 activists who are both the targets of stigma and active change agents in resisting stigma. The content of the interviews was thematically analyzed based on an iterative coding approach in order to identify the points of overlap with and divergence from the Link and Phelan model. The results of the study support the applicability of the model for psychiatric stigma. The participants' experiences illustrate which aspects of stigmatization take precedence in this context, indicating significant points for intervention. The anti-stigma work discussed by the participants illustrates the power of grassroots resistance, expanding the understanding of power presented in the model. Emergent discursive themes include the importance of similarity, the rejection of negative portrayals of mental illness, and a focus on a shared continuum of human experience. Participants' emphasis on the importance of having their voices silenced was a particularly recurring motif. Several respondents challenge the premises of the Link and Phelan model. These participants emphasize the positive aspects of diagnosis and labeling, while several other participants reject the choice of the term stigma because it may obscure the structural aspects of discrimination. These findings can serve as a guideline for designing future interventions, and focusing on strategies for social change.
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Temmingh, Hendrik. "Epidemiology, diagnosis and aspects of treatment in persons with serious mental illness and co-occurring substance use disorders." Doctoral thesis, Faculty of Health Sciences, 2019. http://hdl.handle.net/11427/30422.
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Background: Co-occurring substance use disorders (SUDs) occur in as many as half to three quarters of patients with severe mental disorders such as schizophrenia and bipolar disorder, a phenomenon also described as dual diagnosis. Past research from high income countries have shown that the presence of co-occurring SUDs are associated with a number of demographic and clinical factors, including worse clinical outcomes. Although the clinical profile and negative impact on prognosis has been well characterised in research on dual diagnosis samples from high income countries, little is known in the low- and middle-income country (LAMIC) context about the prevalence and factors associated with SUDs in patients with SMI, its clinical identification and diagnosis, as well as factors associated with its treatment. Objectives: In part-I of the thesis I investigate the clinical epidemiology of dual diagnosis by determining the prevalence of substance use disorders (SUDs) and its association with various clinical and demographic factors in two datasets, the first dataset containing data from a homogeneous sample of Xhosa South African patients with schizophrenia and the second dataset with data from a clinically more heterogeneous sample of patients with major affective and non-affective psychotic disorders. In part-II of the thesis I determine the psychometric properties of two Xhosa language versions of brief substance screening instruments, the Alcohol, Smoking and Substance Involvement Screening Test (WHO-ASSIST version 3) and the Severity of Dependence Scale (SDS), against a gold standard diagnostic instrument, the Structured Clinical Interview for DSM-IV-TR Axis I disorders (SCID-I for DSM-IV). In part-III of the thesis I examine aspects in the pharmacotherapy of dual diagnosis, firstly the association between methamphetamine use and extra-pyramidal medication side-effects (EPS) in patients treated with antipsychotics, and second in a systematic review, the efficacy of risperidone versus other antipsychotics for people with a dual diagnosis. Methods: This thesis consists of secondary analyses of two datasets (datasets#1 and dataset#2) and a Cochrane systematic review of existing randomised trials. Dataset#1 contains data from case-control study with the original aim of investigating the genomics of schizophrenia in the South African Xhosa population. Dataset#2 contains data collected in a cross-sectional manner from 3 studies; one study that investigating the presentation and psychobiology of psychosis, another which was a pilot randomised controlled trial of a text message treatment partner intervention and a third which was a neuroimaging and electrophysiological study of psychotic disorders. Across dataset #1 and #2, demographic information, clinical variables and psychotic and substance use disorder diagnoses were determined using the SCID-I for DSM-IV. In addition, for dataset #2 (conducted in a multi-cultural and ethnic population) we recorded self-identified ethnicity. For self-identified ethnic groups, the terms “Coloured” “Black” and “Caucasian” and “Other” (Asian), were not intended to reify sociocultural constructs but were instead used to study ongoing health disparities. Psychosocial Axis-IV problems were determined using a checklist from the SCID-I and legal involvement was determined using the legal section of the Addiction Severity Index (ASI). Functioning was determined with the global assessment of function, or GAF scale. The ASSIST and SDS instruments were used in a study based on data from dataset #1 investigating the psychometric properties of these screening tools. In turn, I investigated the relationship between methamphetamine use and medication related extra-pyramidal side effects (EPS) in a heterogeneous sample of patients with major affective and non-affective psychotic disorders (from dataset #2). For this study the Simpson Angus Scale for Parkinsonism (SAS), the Barnes Akathisia Rating Scale (BARS) and the Abnormal Involuntary Movement Scale (AIMS) were used to measure EPS. For the first two objectives, logistic regression modelling was used to determine factors associated with having a cooccurring SUD. For the validation study of the Xhosa language versions of the ASSIST and SDS, I determined the internal consistency, concurrent validity, and discriminant validity of these instruments and compared the sensitivity, specificity and the receiver operating characteristics (ROC) for the ASSIST and SDS. Logistic and ROC regression was used for the comparison of ROC area-under-the-curves for ASSIST versus SDS and for determining the impact of co-variates on ROC respectively. In part III, I determined the association between methamphetamine use and the presence of EPS using logistic regression. Finally, I conducted a Cochrane systematic review of randomised trials after a comprehensive literature search of several databases and duplicate study selection and data extraction. Where possible outcomes were pooled, and meta-analyses conducted using random effects models. Primary outcomes were changes in substance use and mental state. Secondary outcomes included substance craving, subjective-wellbeing, adherence, adverse effects, study retention, quality of life and mortality. Study selection, data extraction and quality appraisals were independently conducted. Random-effects meta-analysis was conducted, and the Cochrane risk of bias and GRADE approach used to assess evidence quality. Results: In both datasets#1 and #2, consisting of a total sample size of N=1420 (dataset#1) and N=248 (dataset#2) we found a high prevalence of lifetime SUDs (47.8% and 55.6%) in patients with schizophrenia and major affective or non-affective psychosis, respectively. In multivariable logistic models younger age, male gender, and legal involvement were significantly associated with co-occurring SUDs. Multiple substances were often used together, and SUDs were significantly correlated with one another. Methamphetamine use disorders were significantly more prevalent in the Western Cape province of South Africa and ethnic differences were also apparent with Coloured participants significantly more likely to use methamphetamine compared to Black participants. In addition, we found significant associations between post-traumatic stress symptoms, anxiety symptoms and suicidality and alcohol use disorders. Inpatient status and higher levels of prior admissions were associated with cannabis and methamphetamine use disorders. In a sample of 351 participants from dataset#1 who completed either the ASSIST (N=190), SDS (N=299), or both (n=138), good internal reliability was obtained for both the ASSIST-TSI (total substance involvement score) (Cronbach α= 0.77) and SDS (Cronbach α=0.80). The ASSIST and SDS demonstrated good concurrent validity (rs= 0.50, p 3 years were significantly more likely to have EPS. We found a significant interaction effect between MA use disorders and standardised antipsychotic dose on the occurrence of EPS (ORadj = 1.01, 95% CI= 1.00-1.01, p=0.042). There were no significant associations with EPS with comorbid alcohol, cannabis, or methaqualone use disorders. In the Cochrane systematic review of randomised controlled trials involving risperidone versus other antipsychotics for dual diagnosis, we identified eight trials containing a total of 1073 participants with SMI and co-occurring SUD. Seven trials contributed useable data to the review. Risperidone was compared to clozapine, olanzapine, perphenazine, quetiapine and ziprasidone. Only one study contained data comparing risperidone with a first-generation antipsychotic (perphenazine). Quality of the included studies varied from low to very low. Outcome data were frequently missing and little, or no data was reported in most studies for craving, subjective-wellbeing, metabolic disturbances, global impression of illness severity, quality of life or mortality. For risperidone versus clozapine we found no clear differences between these two antipsychotics in the reduction of positive psychotic symptoms or reduction in cannabis use, improvement in subjective well-being, numbers discontinuing medication, extrapyramidal side-effects or leaving the study early. Clozapine was associated with lower levels of craving for cannabis. For risperidone versus olanzapine we found no clear differences in the reduction of positive psychotic symptoms, reduction in cannabis use, craving for cannabis, parkinsonism, or leaving the study early. For risperidone versus perphenazine, quetiapine and ziprasidone respectively, we found no clear differences in the number of participants leaving the study early. Conclusion: In the context of a dearth of research into dual diagnosis in LAMIC countries such as South Africa, this thesis contains a large-scale epidemiological investigation into substance use comorbidity in patients with schizophrenia and other psychotic disorders. In addition, for the first time we determine the psychometric properties and validity of the Xhosa language ASSIST and SDS and systematically investigate the relationship between methamphetamine use and extra-pyramidal side effects in people with psychotic disorders treated with antipsychotics. For the first time we also conduct a systematic review of the efficacy of risperidone compared to other antipsychotics for a number of primary and secondary outcomes. Our findings have a number of implications for clinicians and services planners. Firstly, SUDs occur in at least half of the people schizophrenia and other psychotic disorders. Accurate detection of SUDs is possible using brief screening tools such as the ASSIST and SDS. Some populations such a younger male population may need particular attention. Moreover, assessment of patients will need to include current and past legal involvement as well as careful assessment of associated comorbid anxiety, post-traumatic symptomology and suicide risk. In patients with co-occurring methamphetamine use disorders clinicians should regularly assess for the development of EPS and carefully titrate antipsychotic dosage from lower to higher doses to avoid EPS. Currently there is not sufficient high-quality evidence favouring the superiority of risperidone over any other antipsychotic in people with SMI and co-occurring SUDs. Results of ongoing trials are awaited, and future trials need to use consistent methodologies and adhere to CONSORT reporting guidelines.
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Chu, Siu-man, and 朱小敏. "The role of religion in coping with mental disorder." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B43895256.
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Makgato, Lephai Irene. "Perceptions of learners in selected rural secondary schools towards mental illness : the case of Ga-Dikgale Community, Limpopo Province." Thesis, University of Limpopo, 2020. http://hdl.handle.net/10386/3362.
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Thesis(M.A.( Psychology)) -- University of Limpopo, 2020The growing number of young people in schools presenting with mental illness is increasingly becoming a disconcerting issue locally and globally. This qualitative study sought to explore the perceptions of mental illness by learners drawn from four secondary schools in Ga-Dikgale rural community (Limpopo Province). Twenty-seven learners (males = 14; females = 13) were selected through purposive sampling and requested to participate in the study. Semi-structured individual interviews and focus group discussions (n = 2) were conducted. The following three themes emerged from the data: a) Knowledge of mental illness, its causes and symptoms b) Knowledge on the management and types of interventions needed for mental illness c) Challenges associated with mentally ill people. The themes and sub-themes emerging suggested deep seated Afrocentric cultural perceptions which tended to shape learners’ views and understanding of mental illness. Some paradoxical explanations with regard to mental illness also emerged. Based on the findings of the study, it is recommended that mental health literacy campaigns be conducted in schools
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丁錫全 and Sik-chuen Dick Ting. "Relationship of psychotic symptoms to sex offending: a retrospective study of sex offenders with mentaldisorders." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B39558162.
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Murray, Aoife Maureen. "Investigating the role of ZDHHC9 in intellectual disability." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648223.
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Terry, Rachel Elizabeth. "The Influence of Sense of Community on the Relationship Between Community Participation and Recovery for Individuals with Serious Mental Illnesses." PDXScholar, 2017. https://pdxscholar.library.pdx.edu/open_access_etds/3679.
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The Community Mental Health Act of 1963 launched the deinstitutionalization movement, whereby individuals with serious mental illnesses were released from psychiatric hospitals and began living and receiving mental health care in the community (Carling, 1995). However, these actions have not necessarily integrated those individuals into all aspects of community life (Dewees, Pulice, & McCormick, 1996). This is unfortunate because people with serious mental illnesses frequently report that community integration is not only important to them, but that it also aids in reducing symptoms and promoting recovery (Townley, 2015). Although past research suggests that receiving mental health care in the community has a positive impact on symptom management, the influence of other community factors (e.g., sense of community, community participation) has yet to be fully explored (Segal, Silverman, & Temkin, 2010). Furthermore, there is lack of understanding as to how these community factors influence other aspects of recovery, such as mental and physical health. As such, the goal of the current study is to better understand the association between community participation and recovery by investigating sense of community as a potential mediating factor between community participation, psychological distress, mental health, and physical health. Data were collected from 300 adults with serious mental illnesses utilizing community mental health services in the United States. Results indicated that sense of community partially mediated the association between community participation and mental health, as well as psychological distress, and fully mediated the association between community participation and physical health. Implications include contributing to the current knowledge base about the role of community factors in recovery and informing future interventions aimed at promoting community integration of adults with serious mental illnesses.
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Hu, Chiyi, and 胡赤怡. "The impact of migration and mental disorders on suicidal behaviors: an epidemiological survey among generalpopulation in Shenzhen, China." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41757841.
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Lütticke, Ashley L. [Verfasser], and Thomas [Akademischer Betreuer] Schulze. "Understanding the involvement of environmental exposures, genetic risk, and epigenetic mechanisms in the course of severe mental illness / Ashley L. Lütticke ; Betreuer: Thomas Schulze." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2020. http://d-nb.info/1216417806/34.
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Smith, Lesley-Ann. "'Mad, bad and dangerous to know' : exploring the everyday spaces of older, mental health service users." Thesis, University of Northampton, 2012. http://nectar.northampton.ac.uk/5423/.
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The area of mental health distress is one that crosses many disciplines including; psychiatry, critical psychiatry, psychology, critical psychology, history, politics, economics, philosophy, sociology, culture and human geographies (Thrift, 2006). Consequently, there are a complex set of issues to consider when discussing the experiences of being a mental health service user. Notwithstanding this diversity, such representations of mental health have a tendency to position service users as a fairly homogenous and static group of bodies – in other words, they are the stable ‘other’ (Conradson, 2005; Parr, 2000). As a way of exploring the complexity, this thesis sets out to explore the multiplex constituents and heterogeneous ways in which daily service user life is played out within everyday mental health spatial contexts. These spaces incorporate the psychiatric institution, the mental health day centre and the home. Using interviews, ethnography, poetry and visual ethnographies, service users’ experiences are analysed by exploring the relational aspects of the discursive and the non-discursive, such as receiving a diagnostic label and subsequent treatments and the ways in which these practices permeate the embodied and spatial experiences of every day service user life. This corpus of research data suggests that rather than the experiences of mental health distress operating as a stratified set of factors awaiting analysis, there were divergent accounts incorporating positivity, negativity and ambivalence in the ways which service users made meanings of their daily lives (Brown & Tucker, 2010). Consequently, this thesis is framed around the ontological realms of creativity, potentiality and of becoming within and through space (Deleuze & Guattari, 2004; Massumi, 2002). Finally, some implications of the current political changes and how these may impact upon daily service user life are discussed to highlight that mental health service users’ are always on the move.
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Walburn, Kathryn H. "Males' and Females' Attitudes Toward a Prospective Social Group Member with a History of Mental Illness." UNF Digital Commons, 1986. http://digitalcommons.unf.edu/etd/656.
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Attitudes of male and female subjects toward a prospective social group member who did/did not have a history of mental illness were investigated. The cognitive, behavioral and affective components of subjects' attitudes were measured. Results from the cognitive measure indicated that: 1) Subjects in the experimental condition perceived the confederate less positively on personal characteristics indicative of moral character. 2) Male subjects perceived the confederate as more dependable when she had a history of mental illness, while female subjects perceived her as less dependable when she disclosed history of mental illness. On the behavioral and affective component measures, there were no significant differences between the groups.
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Mungadze, Jerry Jesphat. "A Descriptive Study of a Native African Mental Health Problem Known in Zimbabwe as zvirwere zvechivanhu." Thesis, University of North Texas, 1990. https://digital.library.unt.edu/ark:/67531/metadc332278/.
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This is a study conducted in Zimbabwe which compared a group of 50 zvirvere zvechivanhu patients and a group of 50 non-patients in age, sex, marital status, level of education and claims of spirit possession. Claims of spirit possessions and types of spirits, as pointed out by Bennel (1982), were used as symptoms of zvirwere zvechivanhu. The two groups were also compared in symptom dimensions of the SCL-90-R used in the study. The SCL-90-R, developed by Derogatis (1975), is a 90-item symptom check list used to screen people for psychological problems reflected in the nine symptom dimensions of somatization, obsessive/ compulsive, interpersonal sensitivity, depression, anxiety, hostility, phobic anxiety, paranoid ideation, psychoticism and in the three global scores of Global Severity Index, Positive Symptom Distress Index and Positive Symptom Total. The subjects were chosen from two different sites, using a systematic sampling method. Three statistical methods were used to analyze the data. The Chi-square was used to analyze data on descriptive variables. The T-test and 2 x 2 analysis of variance were used to analyze the data on symptom dimensions and global scores. The study had one main hypothesis and nine subhypotheses. The main hypothesis was that zvirwere zvechivanhu patients were significantly different from the non-patients on the overall global scores. The nine subhypotheses stated that the patient and non-patient groups were significantly different in the nine separate symptom dimensions. The study concluded that the zvirwere zvechivanhu patients were significantly different from the non-patients in the overall global scores. In the nine separate symptom dimensions, it was concluded that the two groups were the same in all except the somatization and obsessive/compulsive system dimensions.
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Welch, Mark. "Reel madness : the representation of madness in popular western film." Thesis, View thesis, 1997. http://handle.uws.edu.au:8081/1959.7/705.
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This thesis considers the representation of madness in popular film, in the main from the Western canon and English speaking, and argues that madness is seen and represented as an extreme of human experience, a form of Otherness, which throws into relief notions of ontology, sanity and personal and cultural identity. It progresses from a consideration of the historical representations of madness and sanity in art and literature to a review of the pertinent literature on cinema and representation, and uses seminal examples from throughout cinematic history mostly from English language films, from 1906-1996, to illustrate the argument. Alternative methodological approaches are considered for the insights they may provide, and also for the contribution they make to the development of the thesis, in particular the influence of semiotics. A number of stereotypical portrayals of madness, such as the 'mad scientist', the 'crazed murderer', and the 'doomed heroic outsider' are examined in detail. Finally, the thesis proposes the way madness, and mad people, are represented in popular film is reflective and indicative of social and cultural concerns over what can be known, how identity can be established and what it means to live in the contemporary world fraught with uncertainty, anxiety and change
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Mitjans, Niubó Marina. "Genetic Risk Factors for the Lack of Response to Clinical Treatment in Mental Disorders: an Approach from Pharmacogenetics." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/289981.
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Severe mental disorders, such as Major Depressive Disorder (MDD), Bipolar Disorder (BD) and Schizophrenia (SCZ), represent a huge burden to society, reflecting the limited efficacy of current drug treatments. Although the progress in development of pharmacological treatments is one of the great successes of modern psychiatry, it should not be forgotten that a very high percentage of patients do not receive and/or seek the proper treatment for their disease. Individual differences in clinical response to psychotropic drugs have long been recognized as a fundamental problem in the treatment of the seriously mentally ill patient. This variability in individual response ranges from patients who experience complete symptom remission to a subset of patients often describes as “treatment refractory”, as well as a marked variability in susceptibility to adverse drug effects. In this sense, the overall objective of pharmacogenetics is to determine the genetic basis of the variability in drug efficacy and safety, and to use this information to benefit the patient detecting a priori those patients that could not respond to a drug and/or present drug side effects. The present dissertation hypothesizes that lack of response to psychotropic drugs will be associated to genetic variability at genes coding for proteins involved directly or indirectly in the mechanism of action of these drugs. In this sense three different studies have been carried out. The first study analyses genetic variability at genes of the endocannabinoid system in clinical response and/or remission to citalopram treatment in MDD patients. The second study analyses genetic variability at genes related to phosphoinositide (PI), glycogen synthetase kinase-3 (GSK3), hypothalamic-pituitary-adrenal (HPA) and glutamatergic pathways in clinical response to lithium in BD patients. The third study analyses genetic variability at genes related to neurotrophic factors and HPA in clinical response to clozapine in patients with SCZ. Our results focused in the analyses of genetic variability at genes coding for proteins involved in the mechanism of action of psychotropic drugs let us to detect some minor and moderate effects of genetic variants that could explain, at least, part of the lack of response to these drugs. The results of our study in relation to citalopram response in MDD showed that genetic variability at genes related to the endocannabinoid system could play a role in the understanding of clinical response to this drug treatment. Specifically, we found an association between CNR1 gene and clinical remission at 12th week and an effect of CNR1 gene on longitudinal response (along the 12th week follow-up). The results of our study in relation to lithium response in BD showed that genetic variability at INPP1, IMPA2, GSK3B and GRIK2 genes could play a role in the understanding of lithium response. Finally, the results in relation to clozapine response in SCZ showed that genetic variants at FKBP5 and NTRK2 genes may play a role in clozapine response. The detection of individual genetic differences in the response to psychotropic drugs may provide new strategies for the treatment of mental disorders, as well as, new knowledge about the aetiology of these disorders.Los trastornos mentales graves, como son la depresión mayor (DM), el trastorno bipolar (TB) y la esquizofrenia (SCZ), se han convertido en los últimos años en un importante problema de salud en los países desarrollados. Aunque el avance alcanzado en el desarrollo de tratamientos farmacológicos ha constituido uno de los grandes logros de la psiquiatría moderna, no debemos olvidar que hay un porcentaje muy alto de pacientes que no reciben el tratamiento adecuado para su enfermedad. En este sentido, la farmacogenética tiene como objetivo identificar y caracterizar los factores genéticos que se encuentran en la base de las diferencias existentes entre individuos en la respuesta clínica al tratamiento farmacológico. La presente tesis pretende estudiar variación genética basada en genes que codifican para moléculas implicadas directamente o indirectamente en los mecanismos de acción del tratamiento con citalopram (DM), carbonato de litio (TB) y clozapina (SCZ) que nos explicará parte del riesgo para la no respuesta clínica y la no remisión del episodio tratado farmacológicamente. Los resultados nos permitieron identificar variación genética asociada a la respuesta al tratamiento. Concretamente, nuestros resultados indicaron que variabilidad genética relacionada con el sistema endocannabinoide se asociaba con la respuesta a citalopram en DM. Por otro lado, genes involucrados con el sistema de fosfoinositoles podrían explican parte de la variación en la respuesta al litio en el TB. En referencia al estudio de la respuesta a clozapina en pacientes con SCZ, los resultados sugieren que variantes genéticas en los genes FKBP5 y NTRK2 pueden jugar un papel en la respuesta. En este sentido, nuestro estudio proporciona evidencia de la implicación del eje hipotálamo-pituitario-adrenal (HPA) y de factores neurotróficos en la modulación de la respuesta a clozapina. La detección de diferencias genéticas individuales en la respuesta a los fármacos psicotrópicos puede proporcionar nuevas estrategias para el tratamiento de trastornos mentales, así como, nuevos conocimientos sobre la etiología de estos trastornos.
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Wright, Galen Egan Buckley. "Molecular genetic analysis of two genes, CYP2D6 and COMT, in the schizophrenia-susceptibility locus on chromosome 22q in the Xhosa population." Thesis, Stellenbosch : Stellenbosch University, 2012. http://hdl.handle.net/10019.1/20366.
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Redko, Cristina Pozzi. "Fighting against the "evil" : religious and cultural construction of the first psychotic experience of youth living in Sao Paulo, Brazil." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=37817.
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The outbreak of the first psychotic episode disarrays the person's everyday experience and of significant others. This work takes the notion of experience as the key mediating variable to understand how the cultural and social frame affects the experience of psychosis. Culture contributes to the articulation of the experience of psychosis through its influence on individual, family, and community reactions. I focused on the first psychotic experience of low-income youth living in Sao Paulo, Brazil because one can see more clearly the role played by the cultural and social dimensions, since the process of experiencing psychosis is not yet totally settled.I emphasized the basic strategies created by psychotic patients and their families to reorganize their experience of themselves and of the world, and the dynamics and underpinning of these strategies in relation to cultural signifiers. I particularly explored how psychotic patients and their families appropriate, borrow and transform cultural signifiers, and more specifically religious signifiers, in their attempt to cope with psychosis. Religious signifiers are pervasive and diverse in Brazilian culture; furthermore different people may or may not resort to or be affected by religious idioms and signifiers in a similar way. A wide range of variation in the use of religious idioms and signifiers can be expected among patients, at different moments of their life history, and when the experiences of patients and significant others are compared. Religion can have a positive impact over the experience of psychosis, a negative, or even a neutral impact depending on the person and circumstances.
My work also demonstrates that psychotic patients are subjected to a double-process of marginality due to their poor living conditions and to urban violence; and to the fact that their marginality is further accentuated by the psychotic episode. People's reactions also vary and change in relation to the kinds of behaviours manifested by psychotic patients, in addition to the social role of each family member and the family dynamics at play. More generally, people's reactions work in a kind of "feed-back loop," since family reactions modify the subjective world and reactions of patients, while patients' reactions modify family attitudes and behaviours.
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Hartley, Mary. "Depressed mood in pregnancy : prevalence and social factors in Cape Town peri-urban settlements." Thesis, Stellenbosch : University of Stellenbosch, 2010. http://hdl.handle.net/10019.1/5324.
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Thesis (MA (Psychology))--University of Stellenbosch, 2010.ENGLISH ABSTRACT: The purpose of this study was to determine the prevalence of antenatal distress in Cape Town periurban settlements, and the social factors associated with it in this population. Participants were 756 pregnant women from Khayelitsha and Mfuleni, Cape Town. Each women was interviewed in her home language using a structured questionnaire which included the Edinburgh Postnatal Depression Scale (EPDS), measures for social support and alcohol use, and questions concerning socio-demographics, intimate partner violence, and the current pregnancy. A threshold score of 14 and above on the EPDS was used to determine antenatal distress. Data were analysed using descriptive statistics and bivariate analysis initially, followed by multivariate logistical regression. Results indicated a prevalence of 46% for antenatal distress, which is substantially greater than the prevalence found in high income countries. Women in their first trimester of pregnancy were more likely to experience antenatal distress than were women in their second and third trimesters. The strongest predictors of antenatal distress were poor partner support, intimate partner violence and having a household income below R2000 per month. The high prevalence found in this study has harmful implications for infant health in South Africa, and is reason to suggest that early screening and intervention is crucial. More research is needed to develop and evaluate the effectiveness and scalability of community-based interventions for maternal depression in South African peri-urban settlements, as well as to establish the specific infant outcomes of antenatal distress in this population.
AFRIKAANSE OPSOMMING: Hierdie studie het ten doel om die voorkoms van voorgeboorteangs in buitestedelike nedersettings in Kaapstad te bepaal, sowel as die maatskaplike faktore wat met voorgeboorteangs by dié populasie verband hou. Die studiedeelnemers was 756 swanger vroue van Khayelitsha en Mfuleni, Kaapstad. ʼn Gestruktureerde vraelys is gebruik om met elke vrou ʼn onderhoud in haar huistaal te voer. Die vraelys het die Edinburg-nageboortedepressieskaal (EPDS), maatstawwe vir maatskaplike steun en alkoholgebruik, en vrae oor sosiodemografie, bedmaatgeweld en die vrou se huidige swangerskap ingesluit. ʼn Drempeltelling van 14 en hoër op die EPDS is gebruik om voorgeboorteangs te bepaal. Die data is aanvanklik met behulp van beskrywende statistiek en tweeveranderlike analise ontleed, waarna dit aan meerveranderlike logistiese regressie onderwerp is. Studieresultate toon ʼn 46%-voorkoms van voorgeboorteangs, wat beduidend hoër is as dié in hoëinkomstelande. Vroue in hul eerste trimester van swangerskap blyk meer geneig te wees om voorgeboorteangs te ervaar as vroue in hul tweede en derde trimester. Die sterkste voorspellers van voorgeboorteangs is swak ondersteuning van lewensmaats, bedmaatgeweld en ʼn huishoudelike inkomste onder R2 000 per maand. Die hoë voorkomssyfer van voorgeboorteangs waarop die studie dui, het nadelige implikasies vir babagesondheid in Suid-Afrika, en maak vroeë toetsing en ingryping noodsaaklik. Verdere navorsing word vereis om die doeltreffendheid en skaleerbaarheid van gemeenskapsgegronde ingrypings vir moederdepressie in Suid-Afrikaanse buitestedelike nedersettings te ontwikkel en te beoordeel, sowel as om die bepaalde uitwerkings van voorgeboorteangs op pasgeborenes in dié populasie te bepaal
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Herbst, Elsa. "The illness experience of HIV-infected low-income Coloured mothers in the Winelands region : theoretical and practical implications." Thesis, Stellenbosch : University of Stellenbosch, 2006. http://hdl.handle.net/10019/548.
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Niehaus, Daniel Jan Hendrik. "Limiting clinical heterogeneity in schizophrenia : can affected Xhosa sib pairs provide valid subtypes?" Thesis, Stellenbosch : University of Stellenbosch, 2005. http://hdl.handle.net/10019.1/1435.
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Thesis (DMed (Psychiatry))--University of Stellenbosch, 2005.BACKGROUND Schizophrenia is a heterogeneous disorder, which has been shown to have both environmental and genetic risk factors. Since family history (genetic loading) of psychosis appears to be one of the strongest risk factors for the development of schizophrenia, the investigation of affected sib pairs can be used to explore shared familial factors. The Xhosa-speaking inhabitants in the Western, Eastern and Southern Cape provinces, an African population of relatively homogeneous ethnicity, provided a sample of the first large clinical phenotype of schizophrenia. AIM The main aim of this study was to identify shared symptoms or symptom clusters in a sample of Xhosa-speaking sib pairs, with the aid of structured assessment tools.
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Farquharson, Kirsten Leigh. "Audience observations of art, identity and schizophrenia : possibilities for identity movement." Thesis, Rhodes University, 2014. http://hdl.handle.net/10962/d1012992.
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This research situates itself in the study of stigma in mental illness. In particular, the aim is to explore the potential that art making and exhibiting has in reducing stigma for those with a diagnosis of schizophrenia. The research explores one aspect (the exhibition stage) of an "art as therapy" project. The exhibiting of one’s artwork aims to counter limiting "patient" identities by allowing those labelled as psychiatric patients to extend their self-identity to an alternative identity of the "artist". However, this idea only stands strong if the artwork created is not discriminated against as "naïve art" and is accepted or at least considered for acceptance as legitimate nonprofessional artwork. This research explores the ways in which art created by inpatients with a diagnosis of schizophrenia is received by the general art-viewing public at the National Arts Festival in Grahamstown, South Africa. The study uses a discourse analytic framework to analyse the interviews of members of the public who attended the art exhibition of patient artwork. It will examine the ways in which the public construct the artworks and how they position the makers of this art across a continuum, from patient to artist. The results of this thesis have implications for rehabilitation practices for people with a diagnosis of schizophrenia particularly with regard to opportunities to "perform" alternative identities in public spaces.
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Storkey, Karen. "The prevalence of depressive symptoms in the prepartum and postpartum period : a study of low-income women in the Western Cape, South Africa." Thesis, Stellenbosch : University of Stellenbosch, 2006. http://hdl.handle.net/10019.1/2268.
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Thesis (MA (Psychology))--University of Stellenbosch, 2006.This study aimed to determine whether low-income women residing in a rural community in South Africa experienced any significant difference in the prevalence rates of depressive symptoms postpartum as compared to depressive symptoms prepartum. Thirty women between the ages of 16 and 38 were recruited during pregnancy from the local community clinic in Kylemore, South Africa. The women where assessed for elevated levels of depressive symptomatology using the Beck Depression Inventory (BDI) during pregnancy and again at three and six months postpartum. It was found that 18 (60%) of the women reported elevated levels of depressive symptomatology during the prepartum assessment, with 11 (37.9%) and 12 (48%) women reporting elevated levels of depressive symptomatology at the three months and six month postpartum assessment respectively. It was further found that the sample from the current study did not experience any significant difference in the rate of depressive symptomatology from the prepartum assessment to either of the postpartum assessments. The results also suggests that a relationship exists between the levels of depressive symptomatology prepartum and the levels of depressive symptomatology postpartum, as those women who experienced high levels of depressive symptomatology during pregnancy continued to show high levels of depressive symptomatology at the postpartum assessments. The findings from the current study thus suggest that the classification of postpartum depression as a unique and separate entity, that differs from depression occurring in women at other times and from depression as experienced by men, may be misleading. The term suggests a depression that develops following childbirth, while in the current study it seemed that when depressive symptoms were reported postpartum, they were also already apparent during pregnancy. The findings from the current study therefore suggest that the existence of postpartum depression as a distinct diagnosis or illness is problematic – a suggestion that has frequently been suggested in the literature (Aderibigbe, Gureje, & Omigbodun, 1993; Chandran, Tharyan, Muliyil & Abraham, 2002; Cooper, Campbell, Day, Kennerly & Bond, 1988; Cox, Murray & Chapman, 1993; O’Hara, Zekoski, Phillips & Wright, 1990; Patel, Rodrigues, & DeSouza, 2002).
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Rochat, Tamsen Jean. "Depression among pregnant women testing for HIV in rural South Africa." Thesis, Stellenbosch : University of Stellenbosch, 2011. http://hdl.handle.net/10019.1/6843.
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Thesis (PhD)--University of Stellenbosch, 2011.ENGLISH ABSTRACT: Pregnancy is a vulnerable time in settings such as sub-Saharan Africa, and is associated with exposure to a multitude of physiological, social and psychological risks. High HIV prevalence, and the fact that many women will test for HIV for the first time during their pregnancy, has raised concern about women‘s psychological health during pregnancy. Depression during the antenatal period is of public health concern as it has been shown to be associated with poorer foetal and delivery outcomes, risky behaviours, and poorer uptake of antenatal care. Antenatal depression is a predictor of postnatal depression, and postnatal depression has been associated with poor maternal sensitivity and attachment in mothers which is known to result in increased behavioural and developmental difficulties in children. The aim of this research was to provide a clear, in depth and culturally sensitive understanding of the manifestation of depression in pregnant women in a rural area with high HIV prevalence in South Africa. The research method included a diagnostic assessment of depression in 109 women in their third trimester of pregnancy, and an in-depth qualitative examination of the contextual framework within which HIV testing and depression are experienced with a sub-sample of 56 women. The quantitative results demonstrated that the prevalence of antenatal depression was high (46.7%), with close to half of the women being diagnosed with depression. Presentations of depression most frequently included disturbances in mood, loss of interest and suicide ideation. Symptoms which overlap with common side effects of pregnancy such as loss of energy and weight change did not result in an overestimation of depression. Likewise, very little evidence of the somatisation of depression, or particular cultural barriers to the diagnosis of depression based on DSM-IV criteria was found. Rates of suicide ideation were high and equally common among HIV positive as HIV negative women. Factors significantly associated with depression included living within a family homestead, access to a regular source of income and practical support from a partner. Both income and partner support had a negative association with depression. Living away from a family or parental home had a positive association with depression. The results showed that the Edinburgh Postnatal Depression Scale (EPDS) was effective in identifying depression and that a shorter three item version was as effective as longer versions. A positive score for depressed mood on the EPDS was significantly associated with HIV, suggesting that the EPDS is a good screening tool for elevated psychological risks among HIV positive women post HIV testing. Qualitative results showed that having an unsupportive partner and the occurrence of relationship or familial conflict played an important role in the development of emotional distress during pregnancy and resulted in a high number of unwanted pregnancies. Partner and familial conflict was intertwined with cultural practices which govern the acceptability of childbearing among unmarried women and the social recognition of partnerships and paternal responsibilities. Testing for HIV was considered a stressful life event for all women regardless of their HIV status and was a particularly negative life event for women who tested HIV positive or for women who had concerns over partner infidelity. Disclosure among HIV positive women frequently lead to increased partnership conflict. Qualitative findings suggested that depression and emotional distress after HIV testing did interfere with women‘s ability to engage with prevention messages. Women who were coping well with learning their HIV positive status had high levels of family disclosure and subsequent family support in common. The implication of this research is that it is important that public health programmes screen for depression among childbearing women. These data suggests that a shorter three item version of the EPDS along with screening for partner and family support or conflict would effectively detect most women at high risk for depression. Likewise, public health interventions for women with depression which are implemented in primary health care facilities and in isolation of the partnership and familial context within which depression occurs are not likely to be effective. Further research is needed to establish the precise prevalence of antenatal and postnatal depression in women at high risk for HIV; to validate the effectiveness of a shorter screening tool in resource limited settings; and to establish risk and protective factors, and trimester specific risks which could inform the design of cost effective interventions in poorly resourced settings.
AFRIKAANSE OPSOMMING: Swangerskap in Afrika, suid van die Sahara, is ʼn kwesbare tydperk met blootstelling aan ʼn menigte fisiologiese, sosiale en sielkundige risiko‘s. Die hoë voorkoms van HIV en die feit dat baie vrouens gedurende swangerskap vir die eerste keer vir HIV wil toets, het ‗n besorgdheid oor vrouens se sielkundige gesondheid gedurende swangerskap laat ontstaan. Depressie gedurende die voorgeboortelike periode is van belang vir publieke gesondheid, want daar is bewyse wat dui op ‗n verband tussen depressie en swakker fetale en geboorte resultate, riskante gedrag en verminderde gebruik van voorgeboortelike sorg . Voorgeboortelike depressie is ʼn indikasie van moontlike nageboortelike depressie en nageboortelike depressie word geassosieer met swak moederlike sensitiwiteit en die gebrekkige vorming van ‗n band tussen moeder en kind; wat reeds bewys is om te lei tot verhoogde gedrags- en ontwikkelingsprobleme in kinders. Die doel van hierdie navorsing was om ʼn duidelike, indiepte en kulturele-sensitiewe begrip van die manifestasie van depressie in swanger vroue in ʼn landelike omgewing met hoë HIV voorkoms in Suid Afrika te verkry. Die navorsingsmetode sluit in ʼn simptomatiese beraming van depressie by 109 vroue in hul derde trimester van swangerskap en ʼn indiepte kwalitatiewe ondersoek na die kontekstuele raamwerk waarbinne HIV toetse en depressie ondervind word met ʼn sub-steekproef van 56 vrouens. Die bevinding was dat die voorkoms van voorgeboortelike depressie hoog was, 46.7 %, met feitlik die helfte van die vrouens wat met depressie gediagnoseer is. In die meeste gevalle het die voorkoms van depressie gepaard gegaan met ʼn verandering in gemoedstoestand, ʼn verlies aan belangstelling en selfmoordgedagtes. Simptome wat ooreenstem met algemene newe-effekte van swangerskap, soos verlies aan energie en verandering in gewig, het nie bygedra tot ʼn oorberekening van depressie nie. Soortgelyk is baie min bewyse gevind dat somatosasie van depressie, of spesifieke kulturele grense, tot die diagnose van depressie gebaseer op DSM-IVkriteria bydra. Die oorweging van selfmoord was hoog en algemeen tussen beide HIV-positiewe en HIV-negatiewe vouens. Faktore wat aansienlik met depressie geassosieer word, sluit in om in ʼn familiegroep te bly, toegang tot ʼn vaste bron van inkomste en die praktiese ondersteuning van ʼn lewensmaat. Beide inkomste en die ondersteuning van ʼn lewensmaat het ʼn negatiewe verbintenis met depressive. Om nie by familie of in ʼn ouerhuis te bly nie het ʼn positiewe assosiasie met depressive. Alhoewel HIV-status verband hou met depressie, was dit nie uitermate die geval nie, alhoewel daar ʼn gebrek aan statistiese kragdoeltreffendheid was om die effek van HIV vas te stel, gegee die beperkte grootte van die steekproef. Die resultate het getoon dat die EPDS graderingsinstrument effektief was om depressie te identifiseer en dat ʼn korter driepunt weergawe daarvan net so effektief was soos die langer weergawe. ʼn Positiewe telling vir ʼn depressiewe gemoedstoestand op die EPDS het ʼn betekenisvolle assosiasie met HIV en dui daarop dat die EPDS ʼn goeie graderingsinstrument is vir verhoogde sielkundige risiko by HIV-positiewe vrouens, selfs al is HIV-positiewe vrouens in dié steekproef statistieksgewys nie meer geneig tot depressie as HIV-negatiewe vrouens nie. Kwalitatiewe resultate toon dat ʼn lewensmaat wat nie ondersteunend is nie en die voorkoms van verhoudings- of familiekonflik ʼn belangrike rol speel in die ontwikkeling van emosionele angs gedurende swangerskap en dit het gelei tot ʼn groot aantal ongewenste swangerskappe. Konflik met ʼn lewensmaat en met familie was verweefd met kulturele gebruike wat die aanvaarbaarheid van geboortes onder ongetroude vrouens beheer en die sosiale erkenning van verhoudings en die vader se verantwoordelikhede. ʼn HIV-toets is as ʼn stresvolle lewensgebeurtenis beskou deur alle vroue, ongeag van hulle HIV-status en was ʼn besondere negatiewe lewensgebeurtenis vir vroue wat HIV-positief getoets het of vir vroue wat bekommerd was oor hulle lewensmaats se getrouheid. Onthulling van die HIV-status van positiewe vrouens het gereeld tot verhoogde konflik in verhoudings gelei. Kwalitatiewe bevindings dui daarop dat depressie en emosionele angs na ʼn HIV-toets inmeng met ʼn vrou se vermoë om ag te slaan op voorkomingsboodskappe. Vroue wat die kennis van hulle HIV-positiewe status goed hanteer het, het hoë vlakke van bekendmaking van hulle status en die ondersteuning van hulle familie in gemeen. Die implikasie van die navorsing is dat dit belangrik is vir publieke gesondheidsorgprogramme om te toets vir depressie onder swanger vroue. Die resultate dui daarop dat ʼn korter driepunt weergawe van die EPDS, saam met ʼn ondersoek na die ondersteuning van of konflik met ʼn lewensmaat en familie, effektief kan wees om vroue met ʼn hoë risiko vir depressie te identifiseer. Soortgelyk, publieke gesondheidsingryping in primêre gesondheidsorg fasiliteite vir vroue met depressie wat in isolasie van die lewensmaat en familie konteks, waar depressie voorkom geadministreer word, is onwaarskynlik om te slaag. Bevindings onderskryf die belangrikheid van ondersteuning vir die familie om effektief te kan reageer en herstel van stresvolle faktore soos onbeplande swangerskappe en HIV-diagnose, in ʼn konteks wat swaar deur HIV geaffekteer word, aangesien dit ʼn voorkomende effek op depressie kan hê. Verdere navorsing is nodig om die presiese voorkoms van voorgeboortelike en nageboortelike depressie in vrouens met ʼn hoë blootstelling aan HIV vas te stel; om die sukses van ʼn korter graderingsinstrument in arm omgewings te staaf; en om die risiko en beskermende faktore vas te stel en trimester spesifieke risiko‘s wat die ontwerp van ʼn koste-effektiewe ingryping in gebiede met ontoereikende hulpbronne kan beïnvloed.
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Suthers, Graeme Kemble. "The human gene map near the fragile X /." Title page, table of contents and summary only, 1990. http://web4.library.adelaide.edu.au/theses/09PH/09phs966.pdf.
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Thesis (Ph. D.)--Dept. of Paediatrics, Faculty of Medicine, University of Adelaide, 1991.Typescript (Photocopy). Includes published papers co-authored by the author at the end of volume 2. Includes bibliographical references (leaves 195-237 of vol. 1).
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Theander, Freja, and Sofia Selenius. "Appar vid vård av psykisk ohälsa : En kvalitativ studie om psykiatripatienters attityder och behov." Thesis, Uppsala universitet, Institutionen för informatik och media, 2018. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-355083.
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Den psykiska ohälsan ökar internationellt och även i Sverige, samtidigt rapporteras den psykiatriska vården vara bristfällig på grund av sin låga tillgänglighet. Ett sätt att öka tillgängligheten av vården kan vara genom en smartphone-applikation. Men oavsett hur effektiv en app är, så tillför den ingenting om den inte används. Syftet med denna studie är därmed att utreda attityder till denna typ av digitalisering samt undersöka vilka appfunktioner som skulle möta psykiatripatienters behov. Studien baseras på kvalitativa intervjuer med personer som fått vård vid psykiatrin vid Akademiska sjukhuset i Uppsala och vi analyserar sedan empirimaterialet utifrån det teoretiska ramverket Technology Acceptance Model (TAM). Studiens resultat visar på att samtliga av de deltagande psykiatripatienterna har överlag positiva attityder till konceptet att använda appar vid vård av psykisk ohälsa. De positiva attityderna grundar sig dock på förutsättningen att en sådan app ska utgöra ett komplement till den psykiatriska vård som finns idag. Slutligen presenterar studien även att det tyder på att de funktioner som lämpar sig väl för att möta psykiatripatienters behov är sådana som tillgängliggör psykiatrin genom att förmedla information snarare än att erbjuda behandling genom mobilapplikationen.Mental illness is increasing, both globally and in Sweden. Meanwhile it is reported that the psychiatric care is inadequate because of its low availability. A solution to this problem is to increase the availability of care through a smartphone application. But no matter how effective an app might be, it will not solve anything if it is not used. The purpose of this study is therefore to investigate attitudes towards this kind of digitalization and to examine what kind of app functions that can meet patients needs. The study is based on qualitative interviews with persons that have received care from the psychiatry at Akademiska sjukhuset in Uppsala, Sweden. Furthermore, we analyze the empirical material by using the theoretical framework Technology Acceptance Model (TAM). The results show that all of the participating patients generally have positive attitudes towards the concept of using apps for mental health care. Although, these positive attitudes require that a mental health app should be complementary to the psychiatric care available today, not replace it. Finally, the study also suggests that application functions that are well suited to meet the needs of the patients are those who make the mental health care more available by providing information rather than offering treatment through the application.
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Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.
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Thesis (PhD (Psychiatry))--Stellenbosch University, 2008.BACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia population. AIM: The aim of the study was to combine genotypic and phenotypic data, collected in a homogenous population in a structured manner, with the hope of characterising an endophenotype that could be used for more accurate identification of individuals with possible chromosomal abnormalities. METHODOLOGY: A structured clinical interview was conducted on 112 Xhosa schizophrenia patients. (Diagnostic Interview for Genetic Studies, including Schedules for the Assessment of Negative and Positive Symptoms.) Blood samples (karyotyping and/or FISH analysis) as well as urine samples (drug screening) were obtained and nine head and facial measurements were performed. Descriptive statistics were compiled with reference to demographic, clinical and morphological variables. Comparisons between mean differences for these variables were made.
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Rodrigues, Natalia Fintelman. "Caracterização de alterações epigenéticas no gene JARID1C e desequilíbrios genéticos como causas do retardo mental ligado ao x de etiologia idiopática." Universidade do Estado do Rio de Janeiro, 2011. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=2963.
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Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de JaneiroO retardo mental (RM) é caracterizado por um funcionamento intelectual significantemente abaixo da média (QI<70). A prevalência de RM varia entre estudos epidemiológicos, sendo estimada em 2-3% da população mundial, constituindo assim, um dos mais importantes problemas de saúde pública. Há um consenso geral de que o RM é mais comum no sexo masculino, um achado atribuído às numerosas mutações nos genes encontrados no cromossomo X, levando ao retardo mental ligado ao X (RMLX). Dentre os genes presentes no cromossomo X, o Jumonji AT-rich interactive domain IC (JARID1C) foi recentemente identificado como um potencial candidato etiológico do RM, quando mutado. O JARID1C codifica uma proteína que atua como uma desmetilase da lisina 4 da histona H3 (H3K4), imprescindível para a regulação epigenética. Tão recente como a identificação do gene JARID1C, é a descoberta de que mudanças no número de cópias de sequências de DNA, caracterizadas por microdeleções e microduplicações, poderiam ser consideradas como razões funcionalmente importantes de RMLX. Atualmente, cerca de 5-10% dos casos de RM em homens são reconhecidos por ocorrerem devido a estas variações do número de cópias no cromossomo X. Neste estudo, investigamos mutações no gene JARID1C, através do rastreamento dos éxons 9, 11, 12, 13, 15 e 16, em 121 homens de famílias com RM provavelmente ligado ao X. Paralelamente, realizamos a análise da variação do número de cópias em 16 genes localizados no cromossomo X através da técnica de MLPA no mesmo grupo de pacientes. Esta metodologia consiste em uma amplificação múltipla que detecta variações no número de cópias de até 50 sequências diferentes de DNA genômico, sendo capaz de distinguir sequências que diferem em apenas um nucleotídeo. O DNA genômico foi extraído a partir de sangue periférico e as amostras foram amplificadas pela técnica de PCR, seguida da análise por sequenciamento direto. Foram identificadas três variantes na sequência do gene JARID1C entre os pacientes analisados: a variante intrônica 2243+11 G>T, que esteve presente em 67% dos pacientes, a variante silenciosa c.1794C>G e a mutação inédita nonsense c.2172C>A, ambas presentes em 0,82% dos indivíduos investigados. A análise através do MLPA revelou uma duplicação em um dos pacientes envolvendo as sondas referentes ao gene GDI1 e ao gene HUWE1. Este trabalho expande o estudo de mutações no gene JARID1C para a população brasileira ereforça a importância da triagem de mutações neste gene em homens portadores de RM familiar de origem idiopática, assim como, é primeiro relato científico relativo à investigação de variações no número de cópias de genes localizados no cromossomo X em homens brasileiros com RM, através da técnica de MLPA.
Mental retardation (MR) is defined as a disability characterized by significant below average intellectual functioning (IQ>70). The prevalence of MR varies between epidemiological studies, estimated at 2-3% of the population, thus constituting a major public health problem. There is a general consensus that MR is more common in males, a finding attributed, in part, to mutations in the genes located on the X chromosome, leading to an X-linked mental retardation (XLMR). Among all the genes present on X chromosome, Jumonji AT-rich interactive domain IC (JARID1C) was recently identified as aetiologic potential candidate of MR, when mutated. The JARID1C gene encodes a protein that acts as a histone demethylase specific for histone 3 lysine 4 (H3K4) and it is indispensable for the epigenetic regulation. As recently as the identification of the JARID1C gene, it is the discovery that changes in the number of copies of DNA sequences, characterized by microdeletions and microduplications, could be regarded as functionally important reasons to XLMR. Currently, about 5-10% of men MR cases are known to occur due to these variations in the number of copies of chromosome X. In this study we investigated mutations in the JARID1C gene by screening of exons 9, 11, 12, 13, 15 and 16 in 121 patients from families with X-linked MR. At the same time we analyzed the variation in the number of copies in 16 genes located in X chromosome through the MLPA technique. This metodology consists of a multiplex amplification that detects variations in the number of copies up to 50 different genomic DNA sequences, being able to distinguish sequences that differ by only one nucleotide. Genomic DNA was extracted from peripheral blood and the samples were amplified by PCR followed by direct sequencing analysis. We identified three sequence variants among 121 patients. The intronic variant c.2243 +11 G> T, which was present in 67% of patients analyzed, the silent variant c.1794C> G and the novel nonsense mutation c.2172C> A, which was present in 0,82% of patients analyzed. The MLPA analysis revealed that the patient 58 exhibited a duplication involving probes for the GDI1 gene and the HUWE1 gene, resulting in an increase in the number of copies of this gene. This work expands the study of mutations in the JARID1C gene for the Brazilian population and reinforces the importance of screening for mutations in this gene in men with idiopathic mental retardation, and it is the first scientific report on the investigation of variations in the number of copies in genes located on chromosome X in Brazilian men with MR using the MLPA technique.
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Obiols, Guardia Aida. "El transcriptoma no codificante en Síndrome de Rett: nuevas funciones para las regiones transcritas ultraconservadas y circRNAs." Doctoral thesis, Universitat de Barcelona, 2020. http://hdl.handle.net/10803/671629.
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Diversos estudios transcripcionales actuales ponen de manifiesto la importancia funcional de la porción no codificante de nuestro genoma, observándose un papel crucial en todos los niveles de la regulación génica. Uno de los tipos de ARNs no codificantes en cuyo estudio nuestro grupo se encuentra focalizado son las llamadas regiones transcritas ultraconservadas (transcribed ultraconserved regions; T- UCRs), trancritos considerados como ARNs no codificantes largos y cuyas secuencias comparten un 100% de homología en humano, ratón y rata. Dichas especies muestran un patrón de expresión específico de tejido, siendo por lo general muy abundantes en el cerebro y, aunque se ha observado que podrían actuar como trans-reguladores antisentido de la biogénesis de microARNs, sus funciones y mecanismos de acción son todavía desconocidos. Por otro lado, datos recientes muestran también la relevancia de ARNs circulares (circular RNAs; circRNAs) en una gran variedad de enfermedades como el cáncer, enfermedades cardíacas o enfermedades neurológicas, siendo el cerebro el tejido con mayor enriquecimiento de circRNAs en relación a otras regiones. Pese a no haberse podido determinar todavía la función biológica de muchas de estas especies, se sabe que podrían tener efectos directos sobre la transcripción lineal o actuar como “esponjas” de microARNs, regulando así la interacción de estos últimos con sus respectivos ARNs mensajeros diana.
En el presente proyecto, se ha buscado diseccionar los respectivos papeles de T-UCRs y circRNAs en vías relacionadas con la fisiopatología del Síndrome de Rett (RTT), enfermedad severa del neurodesarrollo en la que destacan síntomas como la progresiva pérdida del habla, afectaciones motoras graves, complicaciones cardiacas o una respiración irregular crítica.
Aproximadamente el 90% de casos RTT son debidos a mutaciones causantes de pérdida de función en la proteína MeCP2 (methyl-CpG- binding protein 2), considerada principalmente como represor transcripcional por su capacidad de unión a citosinas metiladas en dinucleótidos 5’CpG y con gran variedad de funciones en la regulación de la expresión génica. Una de las consecuencias observadas por la deficiencia de MeCP2 es el desequilibrio entre sinapsis inhibitorias y excitatorias que se establecen en las redes neuronales. GABA y glutamato son, respectivamente, los neurotransmisores inhibitorios y excitatorios predominantes en el cerebro de los mamíferos, por lo que se hace imprescindible el estudio de alteraciones en ambas vías como posibles dianas de tratamiento. Entre los diversos tipos de receptores de glutamato que se conocen se encuentran los de tipo AMPA, cuyas subunidades proteicas son productos codificados por los genes GRIA1, GRIA2, GRIA3 y GRIA4. Las cuatro subunidades se encuentran sujetas a splicing alternativo dándo lugar a variantes mutuamente excluyentes conocidas como flip/flop. Además, en los casos de GRIA2, 3 y 4 se produce un mecanismo post-transcripcional conocido como edición del pre-ARNm, por el cual se lleva a cabo un cambio aminoacídico (Arg>Gly) capaz de modular las propiedades del receptor.
Datos obtenidos en chips de expresión realizados en el presente proyecto han mostrado alteraciones tanto en la población de ARNs circulares como de regiones transcritas ultraconservadas bajo condiciones de supresión de MeCP2, destacándose un enriquecimiento de sus respectivos genes huésped en rutas asociadas a la función y dinámica del citoesquelético y la neurotransmisión glutamatérgica. Más especificamente, el caso de GRIA3 es uno de los que mayor interés suscita debido a la desregulación observada en los T-UCRs uc.478 y uc.479, transcritos solapantes de ambos exones alternativos, que también son contiguos a la zona en la que se produce la edición del pre- ARNm.
El propósito último es explorar la utilidad de T-UCRs y circRNAs como potenciales dianas terapéuticas y/o biomarcadores de enfermedades neurológicas graves como el Síndrome de Rett.
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Nkuna, Thembi. "Experiences of family members of persons living with mental illness in Capricorn District, Limpopo Province; South Africa." Thesis, 2019. http://hdl.handle.net/10386/3127.
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Thesis (MPH.) -- University of Limpopo, 2019Background- care of the mentally ill by family members is done with little or no supervision by skilled health workers. Therefore, the purpose of the study was to investigate the experiences of family members of patients living with mental illness in the Capricorn District of Limpopo Province in South Africa. Objective- to explore and describe the experiences of family members caring for patients living with mental illness. Methods- A qualitative, descriptive and exploratory design was used. Non-probability sampling of the purposive and convenient type was used to explore and describe the experiences of family members of patients living with mental illness in the Capricorn District. Data were collected from fifteen family members caring for MHCUs, by using open-ended semi-structured face-to-face interviews. Data were audio recorded and observations were done during interviews. Trustworthiness was ensured by applying credibility, transferability, confirmability and dependability. Data were analysed using Tech’s open-coding method. Results- family members experience disruptive behaviour from MHCUs and they also have to adapt to new routines that are at times unfavourable. As a result, the family members’ health and quality of life are affected, thus making them susceptible to having mental illness and other medical conditions as well. Conclusion- There is a need for family members caring for persons living with mental illness to be given emotional and social support. community projects such as support groups for family members caring for MHCUs and goal directed standard operations procedures at the Psychiatric Ward – specifically designed and implemented for family members caring for MHCUs, are recommended.
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Kalal, Beth Ann Burdick. "Clinical, social, and demographic predictors of the one-year outcome of first-incidence psychosis in Hawaii." Thesis, 1989. http://hdl.handle.net/10125/10208.
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