Orientadores: Antonia Paula Marques de Faria, Maricilda Palandi de Mello / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-13T16:41:43Z (GMT). No. of bitstreams: 1 Lincoln-de-Carvalho_CarolinaRodrigues_M.pdf: 7487008 bytes, checksum: 0ee30ed31ecc836e60c91e6c4128b2e9 (MD5) Previous issue date: 2009 / Resumo: A deficiência mental (DM) corresponde a uma das categorias mais amplas de distúrbios, acometendo de 1% a 3% da população nos países industrializados, enquanto nos países em desenvolvimento estima-se prevalência cerca de três vezes maior. Devido à heterogeneidade de fatores causais associados a essa condição, sua investigação diagnóstica pode ser complexa e 40% dos casos não têm sua origem determinada. Recentemente, foi demonstrado que rearranjos subteloméricos são responsáveis por 5% a 7% dos casos de DM idiopática. Entre as técnicas mais promissoras para a identificação dessas alterações, está a Multiplex Ligationdependent Probe Amplification (MLPA), que possibilita a quantificação relativa, quanto ao número de cópias, de mais de 50 sequências de ácidos nucléicos em um único experimento, sendo capaz de detectar deleções e duplicações de diversos genes, além de mutações de ponto conhecidas. É baseada na hibridização do DNA genômico a uma mistura de sondas específicas para cada região estudada, com amplificação dos produtos de ligação pela técnica de PCR, utilizando um par de primers universal. A visualização dessas amplificações pode ser feita por eletroforese capilar e a análise por programas específicos de genotipagem. Entre as vantagens do método estão o custo relativamente baixo, simplicidade, rapidez e sensibilidade, justificando a implantação em serviços direcionados para o estudo da etiologia da DM. Assim, o propósito deste trabalho foi implantar o método em nosso laboratório, utilizando o kit SALSA MLPA P036 HUMAN TELOMERE para pesquisa de rearranjos subteloméricos em indivíduos com DM idiopática. Na padronização, foram empregados controles com e sem alteração subtelomérica, sendo avaliados os parâmetros de tempo de estocagem das reações em refrigerador; quantidade de DNA utilizado em cada reação; forma de normalização dos dados, e possibilidade de redução do volume das soluções empregadas para metade ou dois terços do preconizado no protocolo original, cujo volume final de reação é de 50 µL, dos quais somente 0,75 µL são utilizados na eletroforese capilar, com descarte do restante. A análise dos resultados, confirmados pela utilização de controles com e alterações subteloméricas, mostrou que a implantação do método foi bem-sucedida. Além disso, foi verificado que o tempo máximo de estocagem das reações em refrigerador sem prejuízo dos resultados é de aproximadamente três meses; que a quantidade de DNA satisfatória para o procedimento está entre 150-250 ng por reação; que não é aconselhável a utilização de protocolos com volumes reduzidos, pois a análise de reações realizadas dessa forma mostrou resultados falso-positivos quando comparados às reações feitas segundo o protocolo original; que a forma de normalização dos dados mais adequada para a análise dos resultados é a combinação dos programas GeneScan®, Genotyper® e planilha específica para cada kit ao invés do programa Coffalyser®, indicado pelo fabricante do produto. Após essa padronização, o método foi aplicado no estudo de 62 indivíduos com atraso do desenvolvimento ou DM de causa indeterminada, sendo identificadas alterações em seis deles. Duas foram constatadas também pelo kit de confirmação SALSA MLPA P070, sendo uma del(1p36) e outra um rearranjo del(5p)/dup(9p), ambas validadas pela análise por FISH. As quatro restantes [del(12p)] não foram observadas pelo kit de confirmação, sendo realizado sequenciamento automático que identificou o SNP (rs60220187). Concluindo, a técnica de MLPA foi implantada com sucesso, mostrando-se adequada e eficiente para a investigação de rearranjos subteloméricos. / Abstract: Mental retardation (MR) is the most frequent disability and affects 1% to 3% of general population in industrialized world, while in developing countries it is considered to be three times higher. The etiology is heterogeneous and includes multiple genetic and environmental factors, although in about 40% of the cases its cause remains undetermined. Recently, several studies suggest that chromosomal rearrangements involving subtelomeric regions are common causes of idiopathic MR and occur in approximately 5% to 7% of patients. The Multiplex Ligationdependent Probe Amplification (MLPA) technique has been proposed as one of the alternatives to identify these abnormalities. It is based on hybridization of genomic DNA to a mixture of standardized probes for each region studied. All of the probe ligation products are amplified by PCR using only one universal primer pair. Separation and visualization of the fragments can be developed and the analysis by means of specific softwares for genotyping. Relatively low cost, simplicity and sensitivity are among the advantages of this method, which has been considered as an alternative for diagnostic screening of individuals with undetermined MR or developmental delay. The present study aimed to implement this technique in our laboratory, using the SALSA MLPA P036 human telomere test kit for detecting subtelomeric rearrangements in idiopathic MR patients evaluated in our service. For validation study, eleven normal controls and two positive controls were utilized, as well as the following parameters were evaluated: period of storage of reaction, amount of DNA used for each reaction, procedures to data normalization and reduction of reaction volume. The validation was successful; in addition, it was verified that maximum period for storage of reaction was about three months; adequate amount of DNA for each reaction was approximately 150ng-250 ng; Reduction in volume reaction produced false-positive results; the more suitable method for data normalization was a combination of GeneScan®, Genotyper® softwares and a the use of a specific Microsoft Excel® spreadsheet for each kit, instead of the Coffalyser® program, recommended by the manufacturer. After validation, a pilot study was carried out with 62 patients considered as idiopathic MR using initially the SALSA MLPA P036 kit. MLPA analyses have indicated abnormal copy number in six patients. SALSA MLPA P070 kit confirmed 2 out of the 6 alterations: a 1p36 deletion and a 5p deletion / 9p duplication rearrangement, which were validated by FISH analysis. Other four alterations corresponded to a same 12p deletion, which was not further confirmed. Sequencing the correspondent fragment a known as SNP rs60220187 was identified. In conclusion, we demonstrated that MLPA is an appropriate and efficient technique and should be considered as a routine screening in the evaluation of individuals with unexplained mental retardation or developmental delay. / Mestrado / Ciencias Biomedicas / Mestre em Ciências Médicas

Jiggs is a documentary that explores how Jiggs Gaffney serves despite his mental disability. By observing Jiggs’ involvement at Pine Cove Christian Camps, and revealing his past, the documentary shows how anyone can be used for a greater good, and reveals how God can be served and glorified by anyone, no matter the individual circumstances.

In this study the impact of socio economic factors in raising a child with mental disability was discussed and explored. There is limited research done on this topic in the world and in South Africa. Studies show that there is a direct link between poverty and mental disability. There are multiple factors that have an influence on a family that have a child that suffers from mental disability. These factors include stress and unresolved emotions regarding the child that suffers from mental disability, financial burdens, dealing with the child’s problematic behaviour and the social stigma associated with disabilities. It was found that there is little support available for families that have to deal with all these factors. Different aspects of mental disability have been discussed in this study in order to create a better understanding of mentally disability and to provide all the necessary information surrounding mental disability. Aspects that were discussed are: a) What is mental disability, b) Levels of mental disability, c) The link between poverty and mental disability, d) Socio-economic and psychosocial factors that have an impact on the family, e) Causes of mental disability, f) Role of the social worker, and g) Services provided to families. These aspects have been discussed through literature and in the empirical study. Findings from this study show that families that have a child with mental disability also have to contend with a lot of socio-economic factors that play a role in the family. Having a child with a mental disability in the house has an influence on all members of the family. Children with a mental disability have serious emotional and behavioural problems. Parents of mentally challenged children commonly experience different emotions. Raising a child with a mental disability may be more expensive than raising a typical child. It was thus concluded that there is a need to explore the impact of socio-economic factors in raising a child with a mental disability. / Dissertation (MSW)--University of Pretoria, 2014. / tm2015 / Social Work and Criminology / MSW / Unrestricted

Having done analytical generalization of scientific research „The situation of parents‘ preparation to develop teenagers with medium mental disability“, it became clear that there are no consistent systematic works which thoroughly disclosed the situation of parents‘ preparation to develop teenagers with medium mental disability. In majority of cases only episodic details of the main topic – separate ingredients – were found. The object of research - education of parents, as mentors, having children with medium mental disability. The problem of research – The ability of parents self-preparation to develop teenagers with medium mental disability. The objective of research - To disclose the situation of parents‘ self-preparation to develop teenagers with medium mental disability and describe the process of this self-preparation. The aims of research:1. To make psycho pedagogical generalization of literature on the works of Lithuanian and foreign scientists about parents‘ self-preparation to develop teenagers with medium mental disability. 2. To compare results of teachers, tutors and parents research about education of teenagers with medium mental disability. 3. To make evaluation of teachers’, mentors’ and parents’ as educators’ different opinions about themselves. Methods of research: analytical generalization of psychological, pedagogical, special education literature on the subject of Master‘s final work, Q type diagnostic data... [to full text]

Research on mental disability in the Sub-Sahara African context has recently stagnated, and is in need of a revival. The objectives of this study was to examine (i) the current situation of children and youth with mental disabilities in the Morogoro Region, Tanzania, and (ii) how to create more community awareness on rights of people with mental disabilities in the society, to put the discussion of mental disabilities back on the agenda. To fully grasp the cultural context, we have used interviews with local professionals working with children and youth with mental disabilities, in order to gain knowledge of efficient ways to create more community awareness. Over time there has been a change of attitudes due to improved knowledge, mainly through the increased visibility of people with mental disabilities in the society. However there is still a need to create awareness of the rights of people with mental disabilities, especially in rural areas. In order to influence the current situation for this group, we have concluded, within the frames of social constructionism, that networking through a bottom-up approach could be appropriate to share the burden.

Background: Patients with mental disabilities are more prone to somatic illnesses than the general public. Unhealthier lifestyles and side effects of medication might be causes of conditions that lead to diabetes, cardiovascular diseases and premature death. According to the Social Board patients with mental disabilities receive poorer treatment than patients with only somatic diagnosis. Aim: The aim of the study was to describe nurses' experiences to identify, assess and manage somatic symptoms and problems within the psychiatric care. Method: The study is based on interviews with 12 nurses working in psychiatric outpatient and inpatient care. A qualitative content analysis was chosen. Result: The nurses performed nursing through talking, blood sampling and measuring for example blood pressure. They followed up side effects of medication. This was done routinely or on their own initiative in order to identify, assess and manage somatic symptoms and problems. The nurses had the experience that they did not have sufficient knowledge of somatic care. They had wanted more collaboration with colleagues and other care units to increase this. The alliance with the patient was a precondition for aiding patients to make lifestyle changes. Conclusion: There is need for simple routines and strategies to control somatic symptoms and problems. It is of importance for the patients to receive equivalent care and making it easier for the nurses to provide care. Increased collaboration with colleagues and other care units could facilitate this process of care taking.

Lietuvoje atlikti tyrimai rodo, jog psichikos negalią turintys asmenys yra labiausiai stigmatizuojama neįgaliųjų grupė. Visuomenės nuomonių apie neįgalius asmenis formavimui įtakos turi ir žiniasklaida, kuri yra viena pagrindinių veikėjų kuriančių pasaulio suvokimus bei perteikiančių realybės reikšmes, todėl ji turi galią formuoti ir diskursus apie tam tikrus socialinius reiškinius, pavyzdžiui, psichikos negalia bei ją turinčių moterų motinystė. Todėl svarbu ištirti, kaip žiniasklaidoje yra reprezentuojamas psichinę negalią turinčių moterų motinystės diskursas. Tyrimo objektas – psichinę negalią turinčių moterų motinystės diskursas „Lietuvos ryto“ dienraštyje 1990 – 2012 metais. Tyrimo tikslas – ištirti psichinę negalią turinčių moterų motinystės diskurso turinį „Lietuvos ryto“ dienraštyje 1990 – 2012 metais. Atliekant tyrimą buvo remiamasi mokslinės literatūros ir antrinių šaltinių analize, siekta išanalizuoti psichinę negalią turinčių moterų motinystės diskurso raiškos kontekstą bei atskleisti psichinę negalią turinčių moterų motinystės diskurso ir jo vaizdavimo žiniasklaidoje teorines prielaidas. Diskurso analizės metodas buvo taikytas atliekant psichinę negalią turinčių moterų motinystės diskurso „Lietuvos ryto” dienraštyje analizę: išanalizuotos siužetinės linijos bei diskurso koalicijas. Siekiant labiau atskleisti temos problematiką kiekybinės turinio analizės pagalba buvo aprašomas psichinę negalią turinčių moterų motinystės diskurso kontekstas „Lietuvos ryto“... [toliau žr. visą tekstą] / Lithuanian studies show that mental disabilities are the most stigmatized group of people with disabilities. Public opinion on people with disabilities formation is influenced by the media, which is one of the key players in creating the world's perceptions and the reality of moving values, so it has the power to shape and discourses about certain social phenomena, such as mental disabilities and mentally disabled women motherhood. It is therefore important to examine how the media represents mentally disabled women motherhood discourse. Object – mentally disabled women motherhood discourse 1990 - 2012 in newspaper „Lietuvos rytas“. Purpose – to investigate mentally disabled women motherhood discourse content 1990 - 2012 in newspaper „Lietuvos rytas“. The study was based on the scientific literature and secondary sources analysis. Aimed to analyze the mentally disabled women motherhood discourse context and to reveal mentally disabled women motherhood discourse and its depiction in the media theoretical assumptions. Discourse analysis method was applied to analize the mentally disabled women motherhood discourse in newspaper „Lietuvos rytas“: story lines and discourse coalitions was analyzed. Also to better reveal the problem of theme and to illustrate discourse analysis data semi-structured interviews were conducted. The results of research showed that mentally disabled women motherhood discourse 1990 - 2012 in newspaper „Lietuvos rytas“ dominates in the medical and in the... [to full text]

Au sein de l'école élémentaire, les CLIS 1 sont des classes spécialisées qui accueillent des élèves porteurs de troubles des fonctions cognitives. Ces élèves doivent connaître des temps d'inclusion en classe ordinaire, alors nommée « classe d'inclusion ». Ma thèse s'intéresse à ce que disent les élèves de CLIS 1 de leur(s) place(s) dans l'école, à partir du concept de liminalité, tel qu'il a été défini par Murphy. Il Je postule que la CLIS est un lieu de la liminalité, permettant aux élèves de rester dans l'école sans les y inclure totalement.Je questionne la situation liminale des élèves de CLIS 1 par la dialectisation du statut, de la situation et de la place de la personne handicapée, dans une double perspective socio-historique et socio-clinique. La CLIS 1 peut être pensée comme un espace liminal, au regard de la définition du handicap mental et de ses différentes dénominations, de la perspective historique de la scolarisation des enfants en situation de handicap et de la politique actuelle qui revendique une volonté inclusive. A l'appui des cadres méthodologiques de l'analyse institutionnelle et de la sociologie de l'enfance, j'ai élaboré un dispositif de socio-clinique institutionnelle pour mener une réflexion collective avec les élèves de trois CLIS 1. Il ne s'agissait pas rechercher une adéquation des discours des élèves à la réalité observable, mais de confronter leurs représentations aux observations faites, de façon à analyser leur(s) place(s) au sein de l'institution scolaire.Mes données me conduisent à enrichir le cadre théorique initial. La liminalité des élèves de CLIS1 est une liminalité plurielle, qui dépend de facteurs sociaux, culturels, environnementaux, institutionnels, mais aussi individuels. La recherche a mis à jour le concept d'empan liminal, à savoir un processus dynamique qui se décline différentes situations liminales selon les temps d'inclusion en classe ordinaire de chaque élève. Mon travail empirique d'une part et théorique d'autre part me conduit à interroger les modalités de la mise en œuvre de la politique d'inclusion au sein de l'école élémentaire. / Within the French primary school, CLIS 1 are specialised classes which accept children with cognitive disabilities. These children should partake in inclusion times in regular classes, called "inclusion classes". My thesis focuses on what CLIS 1 students say about their place(s) in the school, from the perspective of liminality, as defined by Murphy. I suggest that the CLIS is a place of liminality, allowing children to stay at school without their total inclusion.I question the liminal status of students in CLIS 1, by discussing the situation and place of disabled children, from both socio-historical and socio-clinical perspectives. The CLIS 1 can be thought of as a liminal space, regarding the definition of mental disability and its various denominations, from the historical perspective of the education of disabled children and from the current policy which claims inclusive desire. In support of the methodological frameworks of institutional analysis and the sociology of childhood, I developed a socio-clinical institutional device to guide a collective reflection with the children of three CLIS 1. It did not seek to match children's reflections to observable reality, The aim was not to compare exactly what the children said to observable reality, but to express to the children the contradictions between what they say and my observations, to analyse their place in the school.My data lead me to enrich the initial theoretical framework. The liminality of the children in CLIS 1 is a plural liminality, which depends on social, cultural, environmental, institutional, as well as individual factors. The research has updated the concept of liminal span, which is a dynamic process that weakens different liminal situations according to the inclusion time in regular classes of each child. My empirical work as well as my theoretical work, has led me to question the methods of the implementation of the inclusion policy in primary school.

abstract: Despite the changing social, legal, and political context in influencing the definition of mental disability, medical scholarship has maintained its position as the primary reference to interpret mental disability in the immigration system. This preliminary study examines the role of medical scholarship in attributing to the exclusion of undesired immigrants through its definition of mental disability. This paper focuses upon immigration cases to determine the patterns that emerge when immigration intersects with mental disability. The data consists of four immigration court cases in 1951-1985, 1986-2005, 2006-2015, which mark the shift of immigration policy in the United States of America (US). The court documents are collected from websites that provide online access to these documents. The examination of the cases focuses on three important criterions: a summary of cases, mental disability circumstances, and judges’ considerations. This paper uses the analysis of political deviance in courtroom settings to get an understanding of the shift in the definition of mental disability in the immigration court by tracing economic, political, and social environments that are intertwined and relevant in creating a ‘mental disabilitiy’ definition. This study suggests that medical scholarship has historically become powerful in shaping mental disability as a form of social control. From historical and case analysis, there have been changes in policies and processes toward immigrants appear to take place in the aftermath of major events—World War II, AIDS epidemic, 9/11 terrorist attack, and now Covid-19 pandemic. Preliminary examination of documented cases suggests future analysis could look at how these major events shape immigration processes and policies that more heavily rely on definitions of mental illness and use competency to stand trial proceedings to indefinitely detain people. / Dissertation/Thesis / Masters Thesis Justice Studies 2020

The thesis focuses on the issue of education of pupils with the slight mental disabilities in physical education classes, taking into account the possibility to implement elements of yoga and relaxation and its later influence on the pupils. In the theoretical section, the goal is to analyze the groundwork of term base for the quantitative research, examine the expression of a light mental disability, and engage with the physical education and concepts of yoga and relaxation. The empirical section focuses on development of the methodical resources for the teacher and subsequent assessment in the elementary school's enviroment. KEYWORDS Education, mental disability, light mental disability, yoga, relaxation, motorics