Esta dissertação tem o objetivo de questionar o diagnóstico de debilidade mental, a partir das contribuições da psicanálise, segundo Freud e Lacan. Partindo de uma análise histórica da construção de um discurso social e científico do termo, discutimos se este diagnóstico, e os fenômenos a ele associados, indicam alguma particularidade que pode fornecer uma orientação para a direção do tratamento, ou para a clínica. Apontamos que nem Freud nem Lacan possuem uma teoria específica da debilidade mental. Por outro lado, Lacan sustentava que Freud errou em contraindicar a análise aos débeis, dizendo que essa análise é sim, possível. Além disso, Lacan utilizou o termo debilidade mental em diferentes sentidos e em diversos momentos de sua obra, para fazer ironia ou para destacar aspectos estruturais da relação do homem com o saber. Este trabalho foca-se nos comentários de Lacan, quando o autor se debruça de forma mais enfática ao diagnóstico da debilidade mental. Posteriormente, analisamos três eixos de análise de autores lacanianos que, a partir da mesma referência (da obra de Lacan), indicaram diferentes estatutos da debilidade mental. O primeiro eixo refere-se à diferenciação entre a psicose e à debilidade mental. O segundo eixo considera a debilidade mental enquanto um fenômeno, ou uma defesa, articulada a uma estratégia de imaginarização, que poderia estar presente nas três estruturas clínicas (neurose, psicose, perversão). O terceiro eixo relaciona a debilidade mental à inibição. A partir dessa discussão e da análise de casos clínicos, apontamos que o que se nomeia de debilidade mental pode ser associada a certos fenômenos, relacionados a uma inflação imaginária. De um lado, este caminho mostra-se interessante, pois possibilita nos distanciarmos do caráter de déficit articulado à concepção de debilidade mental, bem como considerarmos a inclusão de um sujeito neste campo. Por outro lado, quanto à clínica propriamente dita, concluiremos que ela terá seu valor mais acentuado ao não se reduzir a esta análise. Para isso, devemos considerar: o desafio, já indicado por Mannoni (1985), de que médicos e psicanalistas não estão isentos de preconceitos; a consideração de Bruno (1986) de que a clínica com os ditos débeis não revela nenhuma clínica específica; e a fala de Lacan, quando ele indica que sempre falamos mais do que queremos dizer e que o homem sabe mais do que ele crê saber / Drawing heavily on Freud and Lacans contributions psychoanalysis, this dissertation aims to explore the diagnosis of mental retardation. Therefore, beginning with an historical analysis of the construction of a social and scientific discourse of the very expression mental retardation1 we discuss whether such a diagnosis and its associated phenomena can point to some particularity that might furnish a guideline either to treatment or to some clinical direction. While we point out that neither Freud nor Lacan espoused a specific theory about mental retardation, Lacan for his part believed not only that psychoanalysis could be effective in treating the retarded but also that Freud had erred in contraindicated such treatment. However, Lacan in his oeuvre never settles on one fixed meaning for the term mental retardation but rather uses this turn of phrase in several manners and contexts, often in order to underscore some irony or to highlight certain structural aspects of mans relationship to knowledge. Therefore, this work focuses on the commentaries of Lacan, in which he carefully examines the diagnosis of mental retardation. Later, we examine three distinct analytical modes, whose authors, drawing upon the same source material (i.e., Lacans work), proposed three different definitions of this mental handicap. The first mode refers to the distinction between psychosis and mental retardation. The second mode reflects on mental retardation as a phenomenon, or defense, linked to a strategy of imaginarization this strategy in fact could be present in all three clinical structures (neurosis, psychosis, and perversion). The third mode relates mental retardation to inhibition. From this discussion and from the analysis of clinical cases, we indicate that so-called mental retardation can be a function of certain phenomena related to an imaginary inflation. On one hand, this treatment path seems interesting, because it allows us both to go beyond the concept of a deficit related to mental retardation and to consider the inclusion of a subject in this field. On the other hand, the real value of clinical treatment becomes apparent when such treatment is not reduced to a mere analysis of certain phenomena. In this sense, we must take into account: Mannonis challenge (1985), that doctors and psychoanalysts are not free from prejudice; Bruno´s consideration (1986), that the psychoanalytical treatment of the so-called mentally retarded in fact follows the guidelines of standard treatment; and Lacans speech, that we always say more than we want to say and know more than we believe we know

Em estudos etiológicos sobre a deficiência mental (DM), as anomalias cromossômicas, tanto numéricas quanto estruturais, são fatores que apresentam frequência relativa significante. O objetivo deste trabalho foi estudar as frequências e os tipos de anomalias cromossômicas em afetados por DM nas APAEs (Associação de Pais e Amigos dos Deficientes) de Batatais, Altinópolis e Serrana, objetivando conhecer melhor a contribuição destas anomalias na DM nessa região, caracterizando os tipos e as freqüências das aberrações cromossômicas observadas e compará-las entre as APAEs. Pacientes com suspeita de anomalias cromossômicas foram selecionados para o estudo. O critério usado para a seleção da amostra foi a realização do cariótipo em todos os afetados por DM com anomalias estruturais maiores e/ou menores. A análise citogenética foi feita através de cultura de linfócitos do sangue periférico e a coloração utilizada foi banda G, sendo analisadas 20 metáfases por paciente. Dos 505 indivíduos avaliados nas três APAES, 265 realizaram estudo citogenético, sendo encontradas 61 alterações cromossômicas (12,1% do total e 23,0% dos selecionados para cariótipo). Na APAE de Batatais, dos 305 indivíduos avaliados, 174 realizaram cariótipo, sendo encontradas 33 (10,8% do total) anomalias cromossômicas. Em Altinópolis, dos 107 indivíduos avaliados, 54 realizaram cariótipo, sendo observados 16 cariótipos anômalos (14,9% do total). Na APAE de Serrana, dos 93 indivíduos avaliados, 37 realizaram cariótipo, sendo encontradas 12 (12,9% do total) anomalias cromossômicas. Esses resultados demonstram que anomalias cromossômicas contribuem significativamente para a etiologia da DM e que a citogenética clássica possui importantes implicações na prática médica para o diagnóstico dos indivíduos afetados, assim como, para o aconselhamento genético das famílias. Além disso, observa-se que a APAE de Batatais, por apresentar uma porcentagem menor de indivíduos afetados por DM grave, 60,7%, possui uma menor incidência de anomalias cromossômicas quando comparada as APAEs de Altinópolis e Serrana que apresentam uma frequência de 87,8% e 83,9% de indivíduos com DM grave, respectivamente, indicando que alterações cromossômicas são mais frequentes em indivíduos afetados por DM grave. / In etiological studies on mental retardation (MR), the chromosomal abnormalities, both numerical and structural, are factors that have significant relative frequencies. The objective was to study the frequencies and types of chromosomal abnormalities in patients affected by MR in APAEs (Associação de Pais e Amigos dos Deficientes) of Batatais, Altinópolis and Serrana. This aims to better understand the contribution of these abnormalities to MR in these regions, and thus characterizing the types and frequencies of chromosomal aberrations observed in order to compare them between APAEs. Patients suspected of chromosomal abnormalities were selected for the study. The criterion used for sample selection was the achievement of the karyotype of all patients affected by MR with major and/or minor structural abnormalities. Cytogenetic analysis was performed on cultures of peripheral blood lymphocytes, where the band G was used for staining. Twenty metaphases were analyzed per patient. Of the 505 individuals evaluated in three APAEs, a cytogenetic study was performed on 265 patients, and 61 chromosomal abnormalities were found (12.1% of the total and 23.0% of the selected karyotypes). In APAE of Batatais, karyotypes were performed on 174 of the 305 subjects studied, and we found 33 chromosomal abnormalities (10.8% of total). In Altinópolis, 54 karyotypes were performed out of the 107 subjects studied, and we observed 16 abnormal karyotypes (14.9% of total). In APAE Serrana, 37 karyotypes were performed out of the 93 subjects studied, and 12 chromosomal abnormalities (12.9% of total) were found. These results show that chromosomal abnormalities contribute significantly to the etiology of MR and that classical cytogenetics have important implications in medical practice for diagnosis of affected individuals as well as for genetic counseling of the families. Moreover, it is noted that in the APAE of Batatais, because of the smaller percentage of individuals affected by severe MR, 60.7% have a lower incidence of chromosomal abnormalities when compared to the APAEs of Altinópolis and Serrana which have frequencies of 87.8% and 83.9% of individuals with severe MR, respectively. This indicates that chromosomal abnormalities are more frequent in individuals affected by severe MR.

A mere glance at a family photograph of the Victorian era leaves little doubt of the position of the figure exuding impervious, authoritarian detachment. Austere, rigid and solemn, it is not hard to guess who cast the shadow over the picture. Arrestingly imposing in his role as backbone of the family, this is the nineteenth century legacy image of the father. However, the last century has seen fatherhood redefine itself and the more liberal, lenient and openly loving figure replaced the strict patriarchal model. In contemporary times, fathers are regularly seen comfortably behind a stroller, outdoors with children on their shoulders, at home tousling with their children, and considerably more involved in school and social events. Unashamedly, fathers have moved toward both acknowledging and displaying a softer paternal image. By definition fatherhood is a decidedly individual concept and a unique experience, involving much more than being the male parent in a family, the family protector, or the provider of paycheques. Although the past decade has seen a surge of research and interest in fatherhood with an increased recognition that the involvement of fathers contribute to the well-being, cognitive growth and social competence of their children, there remains a deficit in research on the experiences, perceptions and involvement of fathers of children diagnosed with Down syndrome. And whilst most of this knowledge base is extrapolated from studies about the mother’s experience, true understanding requires that fathers are studied directly. Mothers and fathers respond differently to the pressure associated with raising a child with Down syndrome and literature supports the common view that men are less likely and easy to engage in therapy than women, are less likely to attend therapy, or seek help for physical or psychological problems. For fathers of any differently abled child, the distance between the idealized fathering experience and the actual one may be enormous. Based upon the patriarchy model of the family, in many conventional homes, the wife and mother is like a thermometer, sensing and reflecting the home’s temperature, whilst the father and husband is like the home’s thermostat, which determines and regulates the temperature. The equilibrium of the father plays an important role in his ‘thermostat settings’ to set the right temperature in the marriage and his family. Having a differently abled child is almost never expected and often necessitates a change in plans as the family members adjust their views of their own future, their future with their child, as well as how they will henceforth operate as a family.Some fathers may experience uncertainty about their parenting role of a child diagnosed with Down syndrome, often resulting in peculiar behaviours of the father. This may include engrossing themselves into their work, hobbies, sport, and so forth, almost abdicating their duty as father; believing that the mother knows best (sometimes using their own lack of knowledge as a cop-out); or, they simply withdraw because the mother takes such complete control of every aspect of the child that the father feels inadequate, superfluous, and peripheral as parent. Each parent grieves the ‘loss’ of the child they expected in their own individual way. However, such a highly emotive situation may be compounded by the following aspects: the undeniable pressure of caring for the differently abled child; the additional financial burden; a waning social life; and, the incapacity to cope emotionally whilst invariably displaying the contrary purely to create the illusion that they are indeed coping. Fathers need to develop strategies and skills to cope with the very real and practical needs of parenting their child with Down syndrome, to furthermore minimize relationship conflict and misunderstanding, and to support their child’s optimal development. How these specific issues are embraced and managed may dramatically influence the peace and harmony of family life as well as the marital relationship. This study explores the perspectives of fathers of a child with Down syndrome to ultimately support this unique journey as they navigate their way through “Down”town Holland, as illustrated in the analogy to follow.

This thesis deals with opportunities of mentally disabled people in society. First of all it is defined the term mental retardation, its degree and causes. The following describes the education and upbringing of mentally handicapped. The thesis also discusses approaches to work with mentally disabled people. Another section deals with supported employment. The aim of this thesis is to determine the possibilities of mentally disabled people in society.

The aim of this study is to establish the impact of mental retardation on family functioning. The researcher conducted the research in the Waterberg district of the Limpopo province. The lack of insight on the part of the family on how to cope with such circumstances motivated the researcher to conduct the study. Most families do not have the experience of caring for a mentally handicapped member and therefore need information and support on how to cope with the condition. The study is qualitative and exploratory in nature. The research question was; “What is the impact of mental retardation on family functioning”? A simple random sampling was used in the study. The sample was selected from all the registered children attending three different day- care centres in the Waterberg district for the past three months prior the investigation. Ten parents (one per household) of children with mental retardation were interviewed using a semi structured interview schedule. A phenomenological design was used and participants’ experiences of family life and reactions to the realization that they have a child with mental retardation are discussed. Data consisted of audio taped and written interviews. The data collected was transcribed and analyzed according to qualitative methods. The research findings show that mental retardation has an impact on family functioning. Families had to make new adjustments to accommodate the child and his/her special needs. The researcher recommends that service providers should receive training on issues related to mental retardation so as to provide the much needed services to these families. It was found that the burden of caring, financial constraints, lack of community support, the manner in which the disclosure was handled and the lack of services, all had a negative impact on the family. / Dissertation (MA(Social Work))--University of Pretoria, 2008. / Social Work and Criminology / unrestricted

The mechanisms that govern the repression of 5-HT1A receptor gene expression mediated by a novel mental retardation gene, Freud-1, were examined in HEK293 and SKNSH cells. This study provides a possible mechanism of 5-HT1A receptor gene regulation by Freud-1, which, to mediate its action, recruits Swi/Snf and Sin3A/histone deacetylase (HDAC) complexes in non-neuronal HEK293 cells and Swi/Snf only in neuronal, 5-HT1A receptor-expressing SKNSH cells. Thus, Freud-1 has a dual mechanism of repression depending on cell type: HDAC dependent in HEK293 cells and HDAC independent in SKNSH cells. In addition, I present evidence that Freud-1 is not sumoylated at its consensus sumoylation sites and I present the lipid binding properties of Freud-1 and Freud-1 mutants.

Os objetivos deste estudo foram estimar a prevalência da deficiência intelectual aos 7-8 anos de idade em uma coorte de nascimentos, através de investigação genética clínica e laboratorial e, também, investigar a etiologia da mesma e os fatores associados. Os participantes faziam parte de uma coorte acompanhada desde o nascimento e foram incluídos neste estudo por apresentar, em acompanhamentos anteriores, suspeita de atraso no desenvolvimento segundo o Teste de Rastreamento de Battelle, QI abaixo de 70 segundo a escala WPPSI e/ou problemas no comportamento observados durante entrevista. Das 4231 crianças da Coorte de 2004 de Pelotas, 214 foram selecionadas para a avaliação genética que constou de: anamnese, exame físico e dismorfológico e coleta de sangue e urina quando indicado. Criou-se um banco de dados incluindo variáves desta avaliação e dos acompanhamentos anteriores da Coorte, tais como: variáveis da gestação e do nascimento, sociodemográficas e relativas à saúde e estimulação da criança. Os dados foram processados no pacote estatístico Stata 13.0 e foi utilizada análise de variância (ANOVA). Foi considerada como tendo deficiência intelectual a criança que, além de apresentar um QI abaixo de 70, apresentava também problemas no comportamento adaptativo. Cento e setenta crianças das duzentas e quatorze selecionadas no início do estudo foram diagnosticadas com deficiência intelectual e classificadas em cinco grupos etiológicos. A maior parte das crianças (44,4%) foi classificada como tendo deficiência intelectual devida a causas não-biológicas, ou seja, ligada a fatores ambientais. O segundo maior grupo (16,6%) foi o grupo de crianças com deficiência intelectual genética que incluiu crianças com síndrome de Down, microdeleções e patologias autossômicas dominantes e patologias multifatoriais. A seguir, crianças com sequelas neonatais (13,3%) e deficiência intelectual associada a outras doenças (13,3%), como epilepsia e TDAH. O menor grupo foi o idiopático, constituído por crianças que, mesmo após investigação clínica e laboratorial, permaneceram sem diagnóstico definido. A prevalência de deficiência intelectual foi de 4,5% e a prevalência de deficiência intelectual genética de 0,66%. Apesar de algumas limitações como a identificação e seleção dos casos aos 4 anos para uma avaliação aos 7-8 anos, é importante considerar que, por ser um estudo de base populacional, com alta taxa de acompanhamento (92,0%), isto minimiza o viés de seleção. O fato dos dados serem colhidos no momento ou em um curto intervalo de tempo, considerando os diversos acompanhamentos, minimiza o viés de memória. Fora do mundo desenvolvido, são raros os estudos de coorte que avaliaram deficiência intelectual, seus fatores de risco e sua etiologia. Grande parte destes estudos, mesmo os conduzidos em países de renda alta, avaliaram a prevalência, mas não a etiologia. Os dados sugerem que boa parte destes casos poderia ser prevenida, principalmente considerando uma etiologia não-biológica, caso existissem, além do rastreamento de problemas no desenvolvimento, estratégias de intervenção educacional e de saúde. / The aims of this study were to estimate the prevalence and etiology of intellectual disability at 7-8 years of age in a birth cohort through clinical and laboratory investigation and associated factors. Participants were part of a cohort followed from birth and were included in this study due to suspected developmental delay according to the Battelle Screening Test, IQ below 70 according to WPPSI scale and / or behavior problems observed during the interview in previous follow-ups. Of the 4231 children in the 2004 Pelotas birth cohort, 214 were selected for genetic evaluation which included anamnesis, physical and dysmorphological examination and collection of blood and urine when indicated. A dataset including variables from this evaluation and the previous cohort of follow-ups such as variables of pregnancy and birth, social demographic and health-related and stimulation of the child. Data were analyzed using Stata version 13.0. Analysis of variance (ANOVA) was performed. To be considered as having intellectual disability the child that presenting an IQ below 70 and problems in adaptive behavior. One hundred and seventy children from two hundred fourteen selected at baseline were diagnosed with intellectual disability and they were classified into five etiologic groups. Most children (44.4 %) were classified as having intellectual disability due to no biological causes, i.e., linked to environmental factors. The second largest group (16.6%) was the group of children with genetic intellectual disability which included children with Down syndrome, microdeletions and autosomal dominant and multifactorial diseases. Children with neonatal sequelae accounted for 13.3% and intellectual disability associated with other diseases such as epilepsy and ADHD also accounted for 13.3%. The smallest group was idiopathic composed of children who even after clinical and laboratory investigation remained without a definite diagnosis. The prevalence of intellectual disability was 4.5 % and the prevalence of genetic intellectual disability 0.66 %. Despite some limitations such as the identification and selection of cases to four years for an assessment at 7-8 years it is important to consider that it is a population-based study with high follow-up rate (92.0 %) which minimizes selection and information bias. As data were collected in time or in a short period of time considering the several follow-ups minimize recall bias. Outside the developed world few cohort studies assessed intellectual disabilities, their risk factors and etiology. Most of these studies even those conducted in high-income countries assessed the prevalence but not the etiology. The data suggest that part of these cases could be prevented specially considering the non-biological etiology if there were screening of developmental delay and intervention strategies on health and educational bases.

Estudamos uma família com cinco homens (dois falecidos) afetados por deficiência mental (DM) não-sindrômica em duas gerações, num padrão de herança ligada ao cromossomo X. A análise do padrão de inativação do cromossomo X, com base na metilação do gene AR, evidenciou que a mulher portadora obrigatória tinha desvio completo de inativação nos leucócitos, uma característica freqüente em portadoras de mutações do cromossomo X relacionadas com DM. Para o mapeamento da DM, genotipamos 28 locos de microssatélites ao longo do cromossomo X e delimitamos um segmento de cerca de 32 Mb, entre os marcadores DXS986 e DXS8067, compartilhado pelos afetados e pela portadora obrigatória, mas não pelo homem normal ou pelas possíveis portadoras que não tinham desvio do padrão de inativação do cromossomo X. Na busca do gene mutado, analisamos, por seqüenciamento direto, genes mapeados no intervalo compartilhado e já relacionados a DM ou que tivessem expressão em cérebro e leucócitos. Nos afetados e na portadora obrigatória, encontramos a mutação c.845C→T no gene ACSL4, que resulta na substituição do aminoácido histidina, conservado na família de sintetases de acil-CoA humanas e em diversos outros organismos, por tirosina (p.H323Y da isoforma cérebro-específica). Tratando-se de mutação que altera um aminoácido evolutivamente conservado em gene já relacionado com DM, que segregava com a DM na família, não tendo sido encontrada em amostra controle de 160 indivíduos do sexo masculino, concluímos que era a causa da DM na família. Mutações de ponto no gene ACSL4 foram relacionadas com a DM não sindrômica em três famílias descritas na literatura. O gene ACSL4 codifica a acil-coA sintetase 4 da família das sintetases de cadeia longa, que catalisa a formação de ésteres acil-coA a partir de ácidos graxos de cadeia longa. Sua expressão já foi documentada em vários tecidos, incluindo o cérebro e dados recentes mostraram que a proteína é essencial para a formação normal de espinhos dendríticos. A nova mutação do gene ACSL4 que descrevemos como causa de DM vem reforçar a relação alterações desse gene e a DM de herança ligada ao X. O padrão de inativação do X totalmente desviado foi mais uma vez observado em mulher portadora da mutação, indicando a importância da expressão desse gene em leucócitos. A presença de dificuldades de aprendizado na portadora da mutação concorda com o observado nas três famílias da literatura em que o estudo das portadoras foi relatado, indicando o efeito de mutações do gene ACSL4 sobre a função intelectual mesmo em heterozigose. A ausência de correlação entre o padrão de inativação do cromossomo X em células do sangue periférico e o comprometimento intelectual foi confirmada. Na família estudada, a identificação da mutação permitiu o aconselhamento genético. / We studied a family with five men (two of them deceased) affected by nonsyndromic mental retardation in two generations, in a pattern of X-linked inheritance (MRX). The study aimed at identifying the causative mutation. The obligate female carrier showed completely skewed inactivation of the X chromosome, based on the methylation status of the AR gene in peripheral blood in leukocytes, a common feature in carriers of X-linked mutations that cause mental retardation. We genotyped 28 microsatellite loci mapped throughout the X chromosome and delimited a 32 Mb segment, between markers DXS986 and DXS8067, that was shared by the affected males and obligate carrier, but was not present in a normal man or in two women who did not show skewed X-inactivation. We searched for the causative mutation by sequencing genes mapped to this candidate interval that had been associated with MR and/or were expressed in brain and leukocytes. In the affected men and obligate carrier, we found a c.845C→T mutation in the ACSL4 gene, resulting in the amino acid tyrosine substituting for a histidine (p.H323Y in brain isoform), which is conserved in the acyl-CoA synthetase family in humans and others organisms. This mutation was not found in a control sample of 160 men. Previously, point mutations in the ACSL4 gene had been identified as the cause of MRX in three families. ACSL4 encodes the acyl-CoA synthetase long-chain family member 4, which catalyzes the formation of acyl-CoA esters from long-chain fatty acids. It is expressed in several tissues, and in brain it is essential for the normal formation of dendritic spines. The novel mutation here described confirmed the causal association of ACSL4 mutations with non-syndromic mental retardation. The completely skewed Xinactivation, also observed in the previously described carriers, supported a functional role for this gene in peripheral blood leukocytes. The intellectual impairment present in the carrier in the family here reported is in accordance with previous findings pointing to the effect on intellectual abilities of ACSL4 mutations in heterozygosis. The absence of correlation between the pattern of X-inactivation in leukocytes and mental status was confirmed.

No description available.

The purpose of this study was to investigate the extent to which a non-verbal test of intelligence, the Test of Non-Verbal Intelligence (TONI), may be used for assessing intellectual abilities of children in India. This investigation is considered important since current instruments used in India were developed several years ago and do not adequately reflect present standards of performance. Further, current instruments do not demonstrate adequate validity, as procedures for development and cultural transport were frequently not in adherence to recommended guidelines for such practice. Data were collected from 91 normally achieving and 18 mentally retarded Indian children, currently enrolled in elementary schools. Data from an American comparison group were procured from the authors of the TONI. Subjects were matched on age, grade, and area of residence. Subjects were also from comparative socioeconomic backgrounds. Literature review of the theoretical framework supporting cross-cultural measurement of intellectual ability, a summary of major instruments developed for cross-cultural use, non-verbal measures of intellectual ability in India, and issues in cross-cultural research are discussed, with recommended methodology for test transport. Major findings are: (a) the factor scales derived from the Indian and American normally achieving groups indicate significant differences; (b) items 1, 3, 5, 8, 10, and 22 are biased against the Indian group, though overall item characteristic curves are not significantly different; (c) mean raw scores on the TONI are significantly different between second and third grade Indian subjects; and (d) mean TONI Quotients are significantly different between normally achieving and mentally retarded Indian subjects. It is evident that deletion of biased items and rescaling would be necessary for the TONI to be valid in the Indian context. However, because it does discriminate between subjects at different levels of ability, adaptation for use in India is justified. It may prove to be a more current and parsimonious method of assessing intellectual abilities in Indian children than instruments presently in use.