Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity

Aberrant connectivity is implicated in many neurological and psychiatric disorders, including Alzheimer's disease and schizophrenia. However, other than a few disease-associated candidate genes, we know little about the degree to which genetics play a role in the brain networks; we know even less about specific genes that influence brain connections. Twin and family-based studies can generate estimates of overall genetic influences on a trait, but genome-wide association scans (GWASs) can screen the genome for specific variants influencing the brain or risk for disease. To identify the heritability of various brain connections, we scanned healthy young adult twins with high-field, highangular resolution diffusion MRI. We adapted GWASs to screen the brain's connectivity pattern, allowing us to discover genetic variants that affect the human brain's wiring. The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia. Older people who carried the connectivity variant had significantly milder clinical dementia scores and lower risk of Alzheimer's disease. As a posthoc analysis, we conducted GWASs on several organizational and topological network measures derived from the matrices to discover variants in and around genes associated with autism (MACROD2), development (NEDD4), and mental retardation (UBE2A) significantly associated with connectivity. Connectome-wide, genome-wide screening offers substantial promise to discover genes affecting brain connectivity and risk for brain diseases.

Resilience: A new integrative approach to health and mental health research

We know from anecdote and research, science and art, that human resilience is a powerful, seemingly ubiquitous force. What is needed is a better understanding of the properties, variations, and applications of that concept to health and well-being. In this paper we put forth two definitions of resilience: Sustainability of purpose in the face of stress, and recovery from adversity. We review current thinking in the social sciences on the nature of biological, psychological and socio-community processes that may confer resilience. In doing so, we encourage greater attention to aspects of biopsychosocial resourcefulness as a dimension of influence on health and mental health distinct from measures of risk found in standard models of public health inquiry. Multi-level, longitudinal, and intervention methods are advocated for research and applications of the concept with conceptual guidelines for the examination of laboratory, diary, and community indicator data on manifestations of resilience across the life span.

Ancient Philosophers on Mental Illness

This dissertation is about ancient philosophers notions of mental illness, from Plato onwards. Mental illness here means disorders that, in ancient medical thought, were believed to originate in the body but to manifest themselves predominantly through mental symptoms. These illnesses were treated by physical means, which were believed to address the bodily cause of the illness, conceived of as an elemental imbalance or a state of cephalic stricture , for example. Sometimes the mental symptoms were addressed directly by psychotherapeutic means. The first and most important question explored concerns how the ancient philosophers responded to the medical notion of mental illness, and how they explained such illnesses in their theories of physiology and psychology. Although the illnesses are seldom discussed extensively, the philosophers were well aware of their existence and regarded their occurrence an indication of the soul s close dependence on the body. This called for a philosophical account. The second question addressed has to do with the ancient philosophers role as experts in mental problems of a non-medical kind, such as unwanted emotions. These problems were dubbed diseases of the soul , and the philosophers thus claimed to be doctors of the soul. Although the distinction between mental illnesses and diseases of the soul was often presented as rather obvious, there was some vagueness and overlap. There is still a third question that is explored, concerning the status of both mental illnesses and diseases of the soul as unnatural conditions, the role of the human body in the philosophical aetiologies of evil, and the medico-philosophical theories of psycho-physiological temperaments. This work consists of an introduction and five main chapters, focusing on Plato, Aristotle, the Stoics and Galen, and the Sceptics, the Epicureans and later Platonists. The sources drawn on are the original Greek and Latin philosophical and medical texts. It appears that the philosophers accepted the medical notion of mental illness, but interpreted it in various ways. The differences in interpretation were mostly attributable to differences in their theories of the soul. Although the distinction between mental illness and diseases of the soul was important, marking the boundary between the fields of expertise of medicine and philosophy, and of the individual s moral responsibilities, the problematic aspects of establishing it are discussed rather little in ancient philosophy. There may have been various reasons for this. The medical descriptions of mental illness are often extreme, symptoms of the psychotic type excluding the possibility of the condition being of the non-medical kind. In addition, the rigid normativeness of ancient philosophical anthropologies and their rigorous notion of human happiness decreased the need to assess the acceptability of individual variation in their emotional and intellectual lives and external behaviour.

Non-reductive Physicalism, Irreducibility of the Mental and the Problem of Mental Causation : A study of Donald Davidson's and Georg Henrik von Wright's positions in the philosophy of mind

In this study I consider what kind of perspective on the mind body problem is taken and can be taken by a philosophical position called non-reductive physicalism. Many positions fall under this label. The form of non-reductive physicalism which I discuss is in essential respects the position taken by Donald Davidson (1917-2003) and Georg Henrik von Wright (1916-2003). I defend their positions and discuss the unrecognized similarities between their views. Non-reductive physicalism combines two theses: (a) Everything that exists is physical; (b) Mental phenomena cannot be reduced to the states of the brain. This means that according to non-reductive physicalism the mental aspect of humans (be it a soul, mind, or spirit) is an irreducible part of the human condition. Also Davidson and von Wright claim that, in some important sense, the mental aspect of a human being does not reduce to the physical aspect, that there is a gap between these aspects that cannot be closed. I claim that their arguments for this conclusion are convincing. I also argue that whereas von Wright and Davidson give interesting arguments for the irreducibility of the mental, their physicalism is unwarranted. These philosophers do not give good reasons for believing that reality is thoroughly physical. Notwithstanding the materialistic consensus in the contemporary philosophy of mind the ontology of mind is still an uncharted territory where real breakthroughs are not to be expected until a radically new ontological position is developed. The third main claim of this work is that the problem of mental causation cannot be solved from the Davidsonian - von Wrightian perspective. The problem of mental causation is the problem of how mental phenomena like beliefs can cause physical movements of the body. As I see it, the essential point of non-reductive physicalism - the irreducibility of the mental - and the problem of mental causation are closely related. If mental phenomena do not reduce to causally effective states of the brain, then what justifies the belief that mental phenomena have causal powers? If mental causes do not reduce to physical causes, then how to tell when - or whether - the mental causes in terms of which human actions are explained are actually effective? I argue that this - how to decide when mental causes really are effective - is the real problem of mental causation. The motivation to explore and defend a non-reductive position stems from the belief that reductive physicalism leads to serious ethical problems. My claim is that Davidson's and von Wright's ultimate reason to defend a non-reductive view comes back to their belief that a reductive understanding of human nature would be a narrow and possibly harmful perspective. The final conclusion of my thesis is that von Wright's and Davidson's positions provide a starting point from which the current scientistic philosophy of mind can be critically further explored in the future.

Studies of working memory in interrupted human-computer interaction

Distraction in the workplace is increasingly more common in the information age. Several tasks and sources of information compete for a worker's limited cognitive capacities in human-computer interaction (HCI). In some situations even very brief interruptions can have detrimental effects on memory. Nevertheless, in other situations where persons are continuously interrupted, virtually no interruption costs emerge. This dissertation attempts to reveal the mental conditions and causalities differentiating the two outcomes. The explanation, building on the theory of long-term working memory (LTWM; Ericsson and Kintsch, 1995), focuses on the active, skillful aspects of human cognition that enable the storage of task information beyond the temporary and unstable storage provided by short-term working memory (STWM). Its key postulate is called a retrieval structure an abstract, hierarchical knowledge representation built into long-term memory that can be utilized to encode, update, and retrieve products of cognitive processes carried out during skilled task performance. If certain criteria of practice and task processing are met, LTWM allows for the storage of large representations for long time periods, yet these representations can be accessed with the accuracy, reliability, and speed typical of STWM. The main thesis of the dissertation is that the ability to endure interruptions depends on the efficiency in which LTWM can be recruited for maintaing information. An observational study and a field experiment provide ecological evidence for this thesis. Mobile users were found to be able to carry out heavy interleaving and sequencing of tasks while interacting, and they exhibited several intricate time-sharing strategies to orchestrate interruptions in a way sensitive to both external and internal demands. Interruptions are inevitable, because they arise as natural consequences of the top-down and bottom-up control of multitasking. In this process the function of LTWM is to keep some representations ready for reactivation and others in a more passive state to prevent interference. The psychological reality of the main thesis received confirmatory evidence in a series of laboratory experiments. They indicate that after encoding into LTWM, task representations are safeguarded from interruptions, regardless of their intensity, complexity, or pacing. However, when LTWM cannot be deployed, the problems posed by interference in long-term memory and the limited capacity of the STWM surface. A major contribution of the dissertation is the analysis of when users must resort to poorer maintenance strategies, like temporal cues and STWM-based rehearsal. First, one experiment showed that task orientations can be associated with radically different patterns of retrieval cue encodings. Thus the nature of the processing of the interface determines which features will be available as retrieval cues and which must be maintained by other means. In another study it was demonstrated that if the speed of encoding into LTWM, a skill-dependent parameter, is slower than the processing speed allowed for by the task, interruption costs emerge. Contrary to the predictions of competing theories, these costs turned out to involve intrusions in addition to omissions. Finally, it was learned that in rapid visually oriented interaction, perceptual-procedural expectations guide task resumption, and neither STWM nor LTWM are utilized due to the fact that access is too slow. These findings imply a change in thinking about the design of interfaces. Several novel principles of design are presented, basing on the idea of supporting the deployment of LTWM in the main task.

Consensus statement on the role of Accredited Exercise Physiologists within the treatment of mental disorders: A guide for mental health professionals

- Objective The aim is to identify the role and scope of Accredited Exercise Physiologist (AEP) services in the mental health sector and to provide insight as to how AEPs can contribute to the multidisciplinary mental health team. - Methods A modified Delphi approach was utilised. Thirteen AEPs with experience in mental health contributed to the iterative development of a national consensus statement. Six mental health professionals with expertise in psychiatry, mental health nursing, general practice and mental health research participated in the review process. Reviewers were provided with a template to systematically provide feedback on the language, content, structure and relevance to their professional group. - Results This consensus statement outlines how AEPs can contribute to the multidisciplinary mental health team, the aims and scope of AEP-led interventions in mental health services and examples of such interventions, the range of physical and mental health outcomes possible through AEP-led interventions and common referral pathways to community AEP services. - Outcome AEPs can play a key role in the treatment of individuals experiencing mental illness. The diversity of AEP interventions allows for a holistic approach to care, enhancing both physical and mental health outcomes.

Origins of the sex differences in handedness and mental rotation ability : genetic, environmental and hormonal effects

In humans, well-replicated and robust sex differences in cognitive functions exist for handedness and mental rotation ability. A common characteristic in human cognitive functions is the lateralization of language functions. Handedness is a common measure of laterality and is related to language lateralization. The prevalence of left-handedness is higher in males than in females, the male to female ratio being about 1.2. Among cognitive abilities, the largest sex difference is evident in the Vandenberg and Kuse Mental Rotation Test (MRT), which requires the ability to rotate objects in mental space. On average, males achieve scores one standard deviation higher than females in the MRT. The present thesis investigated the origins of the sex differences in laterality and spatial ability as represented by handedness and mental rotation ability, respectively. Two population-based Finnish twin cohorts were utilized in this study. Handedness was studied in 25 810 twins and 4068 singletons born before 1958 from the Older Finnish Twin Cohort, and in 4736 twins born in 1983-87 from the FinnTwin12. MRT was studied in a sub-sample of 804 young adult participants from the FinnTwin12 sample. The main findings of this study were: 1) the prevalence of left-handedness was higher among males than among females in both singletons and in twins; 2) males had significantly higher scores than females in MRT; 3) about one quarter of the variance in handedness and about half of the variance in MRT was explained by genetic effects, whereas the remainder of the variance in these traits was explained by environmental effects unique to each individual. The magnitude of the genetic effects was similar in both sexes; 4) left-handedness was significantly less common in female co-twins of a male than in female co-twins of a female, and female co-twins of a male scored significantly higher than did female co-twins of a female in the Mental Rotation Test. This dissertation discusses whether these differences between females from opposite- and same-sex twin pairs are due to the prenatal transfer of testosterone from the male fetus in females with male co-twins or whether they arise from postnatal socialization effects.

Undertreatment of human immunodeficiency virus in psychiatric inpatients: a cross-sectional study of seroprevalence and associated factors

Background: The aims of this study were to evaluate the prevalence of HIV and its associated demographic and clinical factors among psychiatric inpatients of a general hospital. Methods: This was a single-center, observational, cross-sectional study that included patients consecutively admitted to our unit aged 16 years or older and with no relevant cognitive problems. The patients were evaluated using a semistructured interview and an appropriate test for HIV infection. Results: Of the 637 patients who were screened, 546 (86%) who consented to participate were included in the analyses. Twenty-five (4.6%, 95% confidence interval [CI] 3.0-6.8) patients were HIV-positive. The prevalence was higher among patients with substance misuse (17.4%, 95% CI 9.7-28.8). All except one of the 25 patients knew of their seropositive condition prior to participation in the study. Only 14 (56%) of the 25 seropositive patients had previously received pharmacological treatment for their infection. According to the multiple logistic regression analysis, the likelihood of HIV infection was lower in patients with higher levels of education and higher among patients who were single, had history of intravenous drug use, and had an HIV-positive partner, particularly if they did not use condoms. Among the patients with HIV infection, 18 (72%) had a history of suicide attempts compared with 181 (34.7%) of the patients without HIV infection (relative risk 2.1, 95% CI 1.6-2.7; P<0.001). Conclusion: HIV infection is highly prevalent in patients admitted to a psychiatric unit, especially those with a diagnosis of substance misuse. Seropositive patients show very poor treatment adherence. The risk of suicide seems to be very high in this population. Implementing interventions to reduce the suicide risk and improve adherence to antiretroviral therapy and psychotropic medications seems crucial.

Política de atenção ao indivíduo em sofrimento mental em um município do oeste do Paraná

A assistência psiquiátrica a indivíduos com sofrimento psíquico, em seu campo político, passou por um longo processo de discussão e formulação de estratégias a fim de garantir condição de humanidade aos indivíduos assistidos. A Reforma Psiquiátrica brasileira, como ficou conhecida, ocorreu concomitante ao processo de Reforma Sanitária e formulou leis para a garantia da integralidade e do acesso universal à saúde em território nacional sob a responsabilidade das esferas governamentais. No município de Cascavel PR, o processo de formulação das políticas assistenciais para o indivíduo com transtorno mental se inicia na década de 90, porém só é efetivamente estruturado a partir de 2003 com o fechamento do Hospital Psiquiátrico São Marcos, que forçou o município a agilizar o processo de implantação da rede assistencial e de serviços complementares com moldes psicossociais. Com isso o município estrutura a assistência ao portador de transtorno mental através da implantação de ambulatório especializado, serviço de urgência e centros de atenção psicossocial para adultos, crianças e usuários de álcool e outras drogas, todos estruturados com suporte assistencial realizado pela Unidade Básica de Saúde (UBS). Em cada UBS foi nomeado um profissional de referência para o acompanhamento desses usuários e de seus familiares com o intuito de fortalecer o vínculo e manter a relação entre os serviços complementares e atenção primária. O presente estudo é centrado na pesquisa bibliográfica e de campo, com caráter qualitativo, cujo ponto de partida é a coleta de dados por meio de aplicação de questionário semi-estruturado com a finalidade de conhecer o processo de formulação das políticas municipais de atenção ao doente mental através do questionamento sobre as práticas assistenciais desenvolvidas pela atenção primária à saúde. A população é composta por 10 (dez) profissionais das UBS, referências em saúde mental, e 10 (dez) familiares de usuários com sofrimento mental, assistidos pela atenção básica, mas inseridos em algum dos serviços ofertados da rede assistencial de saúde mental. A análise dos dados se deu por meio de análise de conteúdo, com estruturação de dois grandes focos de análise para melhor compreensão dos conteúdos (Análise de Conteúdo de Bardin). O resultado apontou dados positivos em relação à política de saúde mental municipal uma vez que, embora com apontamentos divergentes entre profissionais e usuários, percebe-se a intenção em assegurar aos indivíduos em sofrimento psíquico uma gama de procedimentos que são, inclusive, orientados por portarias ministeriais. Em relação à assistência prestada pela atenção básica de saúde, há convergência em relação às ações desenvolvidas pelos profissionais da UBS, embora os profissionais afirmem o desenvolvimento de atividades que não são confirmadas pelos usuários. Em relação às dificuldades encontradas para efetivação do tratamento, tanto profissionais quanto usuários apontam que há muito a avançar no campo da saúde mental para que efetivamente seja prestada assistência de forma equânime e integral.

O trabalho político do profissional de saúde mental em um processo de desinstitucionalização: um estudo sobre integralidade e reforma psiquiátrica

O trabalho pretende apresentar uma cartografia das atividades desenvolvidas pelos profissionais de saúde mental que prestam assistência aos moradores dos serviços residenciais terapêuticos do município de Carmo, no Estado do Rio de Janeiro. Estas moradias constituem uma etapa do processo de desinstitucionalização de um hospital psiquiátrico estadual do tipo colônia agrícola, fundado na década de 40 do século passado, onde estavam internados cerca de 280 pacientes. A partir de 2003, com a extinção do hospital coordenada pelo gestor estadual e a municipalização dos recursos, uma pequena parcela dos internos retornou ao seio familiar, mas a maioria (cerca de 160) foi alocada em moradias assistidas, espalhadas pelas áreas urbana e rural do município. Tomando a tarefa de reinserção social como o viés político da Reforma Psiquiátrica Brasileira, o trabalho cotidiano da equipe multiprofissional é focalizado. Neste plano relacional o texto busca a conceitualização de Política e de um trabalho político, através das idéias de Arendt, Gramsci, Deleuze e Guattari, entre outros; já a ergologia possibilita uma metodologia para a abordagem do trabalho humano. Com base na pesquisa de campo, a cartografia revela como a tarefa política é realizada, nas atividades dos técnicos, quer dizer, na micropolítica dos encontros dos profissionais uns com os outros, com a sociedade civil e com os moradores, onde os valores da Reforma Psiquiátrica são negociados. No fim, trata-se de uma etapa em um processo, ainda a meio caminho entre a gestão estadual e a gestão municipal, onde a proposta mantém-se sustentada pela vontade política do gestor e, na via da hegemonia, deve ser trabalhada entre os profissionais e na sociedade civil. O panorama é heterogêneo, e a dinâmica revela a diversidade de entendimentos e interesses. No cenário do trabalho cotidiano, conceitos como autonomia e cidadania se atualizam em atividades que caracterizam a vida nas cidades e se desdobram em torno de certos temas, como o uso do dinheiro, ou a apropriação do espaço. A experiência dos técnicos envolvidos mais diretamente com os moradores, como os cuidadores, produz uma técnica de escuta e mobilização, que não admite cartilhas nem regras pré-estabelecidas ou imutáveis. Este trabalho conjunto, formador de redes e sustentado na interação, é indicador de integralidade na execução da proposta da Reforma Psiquiátrica.

O hospício como morada: capturas e resistências nas práticas de cuidado em saúde mental

Esta pesquisa é disparada a partir do encontro da pesquisadora com as chamadas moradias dentro de hospitais psiquiátricos no Estado do Rio de Janeiro. No seio da reforma psiquiátrica e da instalação de uma rede de assistência substitutiva ao hospício, ocorrem transformações também no interior deste último: humanizam-se as práticas, retirando de cena o eletrochoque, a lobotomia, a camisa-de-força, fazendo documentos como CPF, RG e etc. Contudo, a edificação manicomial permanece de pé com os seus grandes pavilhões, alguns agora travestidos em moradias, que tanto podem operacionalizar uma passagem de dentro para fora dos muros como perpetuar o hospício. O texto indaga por que motivo, a partir de um certo momento, inaugura-se um novo modo de organização em saúde mental, em que a antiga centralidade hospitalar se fragmenta em moradias internas e se difundem os novos serviços, ditos abertos, para em seguida afirmar que a construção de uma rede substitutiva não assegura, definitivamente, o fim da relação manicomial. Com o suporte teórico de Foucault e Deleuze, propõe uma discussão acerca da biopolítica da espécie humana, da coexistência de tecnologias disciplinares e regulamentadoras e da inauguração, na sociedade de controle, de um exercício de poder difuso, a céu-aberto, dispensando a coação física e a instituição da reclusão. O texto, entretanto, não se deixa abater por essas análises, mantendo suas apostas numa Reforma Psiquiátrica que propõe como um campo de disputas, de embates cotidianos. É então que a temática do cuidado entra em cena. Para tanto, faz-se uma releitura do período helenístico-romano através dos olhos de Foucault. O Cuidado de Si é apresentado ao leitor para, em seguida, ser estabelecido um contraponto entre o mesmo e o modo de ser sujeito moderno e cristão, com exercícios de renúncia a si e práticas de sacrifício, que em muito se assemelham à maneira como os trabalhadores vêm atuando, hoje, no campo da saúde mental. O texto procura dar pistas e visibilizar as resistências presentes em meio às tantas capturas postas em análise. Trata-se de uma experimentação de práticas de liberdade que se atualizem na operação de cuidado.

Sexualidade na saúde mental: revisão da produção científica brasileira (2001-2014).

Com o objetivo de analisar estudos sobre sexualidade e saúde mental, particularmente artigos publicados no Brasil entre 2001 e 2014, esta dissertação apresenta uma revisão de literatura conduzida em duas bases de dados: Biblioteca Virtual em Saúde e Portal de Periódicos CAPES. Nota-se que os estudos sobre sexo, gênero e sexualidade mostram a complexidade do entendimento sobre a vida sexual humana, oscilando entre as perspectivas essencialista e construtivista, concebendo a sexualidade de diversos modos. Já os estudos sobre loucura, saúde mental e atenção psicossocial apontam para as diferentes concepções acerca do processo de adoecimento mental, a saúde mental sendo ao mesmo tempo um campo científico e um valor de bem-estar psíquico a ser alcançado. Pesquisas em instituições asilares mostram que os agentes institucionais representam a sexualidade da pessoa em sofrimento mental (PSM) como anormal ou inexistente. A revisão da produção acadêmica sobre o tema, após a promulgação da Lei 10.126/2001, que dispõe justamente sobre os direitos das pessoas portadoras de transtornos mentais, reuniu 685 publicações (549 na CAPES e 136 na BVS), 43 delas duplicadas, dentre as quais apenas 109 nacionais, estes tendo sido sistematizados pelo título e resumo, apenas 11 foram selecionados e investigados na íntegra. Os resultados mostram que a produção científica analisada é escassa, sendo a temática incipiente na saúde coletiva, predominando abordagens biomédicas com foco no comportamento sexual, com especial atenção à vulnerabilidade às IST/HIV/AIDS, bem como a concentração dos estudos na região sudeste do país, a ausência de educação sexual e lacunas na formação para o trabalho com a sexualidade. Conclui-se que a produção científica brasileira analisada sobre sexualidade no campo da saúde mental não é centrada nos direitos sexuais e reprodutivos das PSM, enquanto as práticas sexuais dos usuários e as representações dos profissionais ganham relevo nas análises.

Cognitive Tomography Reveals Complex, Task-Independent Mental Representations

Humans develop rich mental representations that guide their behavior in a variety of everyday tasks. However, it is unknown whether these representations, often formalized as priors in Bayesian inference, are specific for each task or subserve multiple tasks. Current approaches cannot distinguish between these two possibilities because they cannot extract comparable representations across different tasks [1-10]. Here, we develop a novel method, termed cognitive tomography, that can extract complex, multidimensional priors across tasks. We apply this method to human judgments in two qualitatively different tasks, "familiarity" and "odd one out," involving an ecologically relevant set of stimuli, human faces. We show that priors over faces are structurally complex and vary dramatically across subjects, but are invariant across the tasks within each subject. The priors we extract from each task allow us to predict with high precision the behavior of subjects for novel stimuli both in the same task as well as in the other task. Our results provide the first evidence for a single high-dimensional structured representation of a naturalistic stimulus set that guides behavior in multiple tasks. Moreover, the representations estimated by cognitive tomography can provide independent, behavior-based regressors for elucidating the neural correlates of complex naturalistic priors. © 2013 The Authors.