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Clinico-genetic analysis of 21 personal observations and review of the literature confirmed the existence of a wide phenotypic spectrum of Dubowitz syndrome. It is shown that in spite of marked microcephaly, severe mental deficiency is rare in Dubowitz syndrome and about half of the patients are mentally normal. A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis. All three families with this form are natives of a small area of Byelorussia, suggesting an autosomal or X-linked recessive mode of inheritance of this subtype. The data obtained confirm autosomal recessive inheritance of Dubowitz syndrome.

The reward-induced shifts in motivational orientations were investigated and retention in a 2 (high and low levels of intrinsic motivation) × 2 (reward and no-reward presentations) factorial experiment conducted on 60 extreme scorers on a test of intrinsic motivation (Haywood, 1968, American Journal of Mental Deficiency , 72, 662–667). A Hindu version of the ‘war of ghosts’ story (Bartlett, 1932, Remembering: A study in experimental and social psychology , Cambridge: University Press) was used as to-be-remembered material. High intrinsically oriented non-rewarded and low intrinsically oriented rewarded S s showed higher short-term and long-term retentions. An optimum level of arousal due to reward manipulations in the two extreme scorer groups enhanced retentions, whereas an excessive level of arousal in the rewarded high intrinsically oriented group and a very low level of arousal in the non-rewarded low intrinsically oriented group extend an inverted U-shaped curve of arousal in the present experiment.

This article tries to extend the behavioural assessment basis and techniques to the field of mental deficiency, given the lack of practical tools of this sort. The main objective of this research work is to design a method that will satisfy the aspects of assessment, behavioural diagnosis and follow-up. The method intends to: a) comprehend each one of the behaviour areas needed to promote a full assessment of behaviour in mentally deficient subjects; b) fulfil the main psychometric demands, as well as facilitate continuous assessment. Finally, the article presents a behavioural system of assessment and diagnosis of mental deficiencies that satisfies all the main requirements already mentioned, leaving the �validity of treatment� of the system to be studied.

Dificuldades de pais e profissionais para lidar com comportamentos de natureza sexual de pessoas com deficiência mental são provavelmente advindas de concepções parciais ou equivocadas desses pais e profissionais sobre as potencialidades de desenvolvimento da dimensão sexual dessas pessoas. Uma das implicações desse tipo de concepção é promover poucas oportunidades para ouvir o jovem com deficiência mental sobre suas expectativas e desejos sobre relacionamento amoroso. O objetivo do trabalho foi descobrir quais as percepções de jovens com Síndrome de Down sobre relacionar-se amorosamente. Para isso, duas mulheres e três homens com Síndrome de Down, com idade entre 18 e 28 anos, foram entrevistados individualmente. As verbalizações desses jovens sobre o que é apaixonar-se e o que sentem um pelo outro se referiram a comportamentos que expressavam cuidados com (a) namorado (a), e a sentimentos como ânimo e paixão. Em relação ao que verbalizam sobre o que é uma pessoa atraente, houve ênfase em aspectos físicos e comportamentais. Uma jovem afirmou ter relações sexuais com o namorado e descreveu com minúcia a experiência e cuidados tomados para isso. Outros dois jovens consideraram a possibilidade de ter relações sexuais mais tarde, embora já namorassem há algum tempo. Uma adolescente indicou como necessário para ter relação sexual a interdependência do casal e a prevenção da gravidez. Os resultados possibilitam concluir que as percepções que jovens com Síndrome de Down têm sobre relacionamentos amorosos não diferem daquelas de jovens sem síndrome e, muito provavelmente, são desenvolvidas pelas oportunidades de se comportarem efetivamente sob contingências que favoreçam comportamentos amorosos. Difficulties parents and professionals have in coping with sexual behaviors of people with mental deficiency probably result from their faulty ideas or misconceptions of the potential these people have for developing of sexuality. One implication of this type of conception is that few opportunities are promoted for listening to what young people with mental deficiency have to say about their expectations and desires of amorous relationships. The aim of this study was to uncover the perceptions of young people with Down Syndrome about amorous relationships. To this end, two women and three men with Down Syndrome between 18 and 28 years, were interviewed individually. Their reports on what it means to fall in love and what they feel for each other was related to behaviors that expressed concern for their boyfriend/girlfriend, as well as feelings of excitement and passion. As to their reports on physical attraction, emphasis was placed both on physical and behavioral aspects. One young woman stated that she had sexual relations with her boyfriend and she described in details her experience and the precautions taken. Two other interviewees considered the possibility of having sexual relations in the future, although they had been dating for some time. One young woman indicated that having sexual relations requires interdependence of the couple, as well as precautions to prevent pregnancy. These results enable us to conclude that the perceptions that young people with Down Syndrome have about amorous relationships do not differ from those of young people without the syndrome and are probably developed when given opportunities to experience relationships in circumstances that favor amorous behavior.

The present work aims to identify and understand the different acquirements found in the pedagogic practice of educators who work with bearers of deficiencies in the first-grade of elementary school. In order to achieve this objective, two public schools, which work under the perspective of inclusive education, located in the city of Uberlândia were chosen as a scenario. The study has started with a brief historic of Special Education and the definition and characteristics of mental deficiency. Afterwards, the educators knowledge and background were emphasized, favoring the understanding but the way these educators acquire and/or build and the mobilization of this knowledge, and what type of relation are established amongst themselves and their pedagogic practice. Through the nature of this work and the theoretical principles in which it is based, our methodological option was guided in a qualitative approach and it included the involvement of 3 specific educators who have students with mental deficiency in the first-grade, within your classrooms. In order to gather the data, it was used semi-structured interviews. The gathered information indicates that educators own a set of knowledge arising from all sort of sources and all of them are relevant for your professional performance, but the ones that most affect the pedagogic practice with the mental deficiency students in regular education, are the personal and experienced knowledge, whereas the educators do not have formation to work with these students. It was verified within this study that, in the lack of this formal initial knowledge, educators develop the work with the mental deficiency students searching inside their personal experiences and their auto-formation, and therefore, building their own set of experienced knowledge. In this way, the development of this work reveals the built knowledge of these three educators, in their performance with the mental deficiency student and it may contribute for the seek of alternatives to the initial and continuous formation, recognizing and valorizing the experienced knowledge built through the work development of the student. Add to that, It may also contribute to the reflection about the qualification of the educators. Este estudo tem o objetivo de identificar e compreender os diferentes saberes presentes na prática pedagógica de professores que trabalham com deficientes mentais, na primeira série do ensino regular. Para atingirmos esse objetivo, escolhemos como cenário da pesquisa duas escolas da rede municipal de ensino fundamental, situadas na zona urbana de Uberlândia, que trabalham na perspectiva da educação inclusiva. Iniciamos o estudo com um breve histórico da Educação Especial, a definição e as características da deficiência mental. Em seguida, destacamos uma literatura sobre os saberes docentes e a formação de professores, privilegiando a compreensão sobre como se dá a aquisição e/ou a construção e a mobilização desses saberes pelo professor e que tipo de relações são estabelecidas entre eles e a prática pedagógica dos docentes. Perante a natureza do nosso estudo e as bases teóricas nas quais nos fundamentamos, nossa opção metodológica pautou-se em uma abordagem qualitativa e envolveu a participação de três professoras que atuam na primeira série e têm alunos deficientes mentais em suas salas de aula. Para a coleta de dados, foi utilizada entrevista semiestruturada. Os dados coletados indicam que as professoras possuem um conjunto de saberes oriundos de diversas fontes, e todos são relevantes para a sua atuação profissional, mas os saberes que mais influenciam a prática pedagógica, com os alunos deficientes mentais, em situação de ensino regular, são os saberes pessoais e os experienciais, pois verificamos que as professoras não possuem formação para trabalhar com esses alunos. Constatamos com este estudo, que, na falta dos saberes advindos da formação inicial, as professoras desenvolvem o trabalho com o aluno deficiente mental recorrendo às suas experiências profissionais e à autoformação, construindo, assim, seus saberes experienciais. Desse modo, a elaboração deste trabalho revela os saberes construídos pelas três professoras na atuação com o aluno deficiente mental e pode contribuir para a busca de alternativas para a formação inicial e continuada, reconhecendo e valorizando os saberes experienciais produzidos no desenvolvimento do trabalho com esse aluno. Além disso, pode contribuir para a reflexão acerca da formação docente. Mestre em Educação

Fundo Mackenzie de Pesquisa The principal aim of this study was to know how a person with mental deficiency perceives both the work he does and the social relations established within the working environment. To reach such objective, it was chosen the qualitative method of research, being, the interview, the selected form of investigation. In the first part of the study, a bibliographical research was carried through and, after this stage, it was made a field research in which six formal workers with light and moderate mental deficiency were interviewed. These workers are inserted in three Brazilian companies set in the State of São Paulo, two of them, a big and a medium-sized one, located in the area of Campinas, and the third one located in the area of Vinhedo, this being a big size company. The data was collected in the place where the chosen informants work. The collected material was later analyzed and, from the speech of these workers, it was possible to assert that, in their majority, they agree on the following: they like the work they do as well as their working environment, they do not perceive anything bad in the working environment and consider their relationship with their employers and fellow workers harmonious, full or respect and fellowship. The present work shows evidence of the importance of new studies which try to find out if mental deficiency workers are really being included in the work market and if the employing companies are effectively having politics of inclusion for these workers. Este estudo teve como objetivo principal saber como a pessoa com deficiência mental percebe o trabalho que exerce e as relações sociais estabelecidas dentro do ambiente de trabalho. Para se alcançar tal objetivo, optou-se por utilizar o método qualitativo de pesquisa, referenciando a entrevista como forma de investigação. Na primeira parte do estudo, foi realizada uma pesquisa bibliográfica e, após essa etapa, foi feita uma pesquisa de campo, na qual foram entrevistados seis trabalhadores formais com deficiência mental leve e moderada. Esses trabalhadores estão inseridos em três empresas brasileiras no Estado de São Paulo, sendo duas sediadas no município de Campinas, uma delas de grande porte e a outra de médio porte, e a terceira no município de Vinhedo, sendo esta de grande porte. Os dados foram coletados no ambiente de trabalho dos sujeitos da pesquisa. O material coletado foi posteriormente analisado e, das falas desses trabalhadores, pôde-se constatar que, em sua maioria, eles estão de acordo quanto ao seguinte: gostam do trabalho que executam e do seu ambiente de trabalho, que não percebem nada de ruim no seu ambiente de trabalho e consideram harmoniosa sua relação com os empregadores e com os colegas, plena de respeito e companheirismo. O presente trabalho evidencia a importância de novos estudos que busquem descobrir se os trabalhadores com deficiência mental estão realmente sendo incluídos no mercado de trabalho e se as empresas empregadoras estão tendo efetivamente uma política de inclusão desses trabalhadores.

La fenilcetonuria (PKU) es una enfermedad autosómica recesiva causada por desórdenes metabólicos debidos a mutaciones en el gen de la fenilalanina hidroxilasa y afecta a cerca de uno de cada diez mil individuos de la población y si no es tratada oportunamente trae graves consecuencias como el retardo mental. Se estableció la prevalencia de fenilcetonuria en niños con discapacidad intelectual de la ciudad de Cali determinando la concentración de fenilalanina en sangre seca colectada en papel de filtro mediante la técnica de microelisa a 626 infantes de 19 instituciones con edades comprendidas entre 6 meses y 16 años con un promedio de 10.9 años encontrándose una media de concentración de fenilalanina de 1,132 mg/dL pudiéndose detectar un caso de fenilcetonuria por deficiencia de la enzima Dihidropterina reductasa (DHPR OMIM# 261630). Se diseñó un programa de Salud Pública que permite la detección temprana y el tratamiento adecuado para estos niños, acorde con la mutación que presentan. The Phenylcetonuria (PKU) is an autosomic recesive disease due to metabolic disorders related to gen on phenylalanine hidroxilase. This mutation has a frequency of 1/10.000. Failure in mutation screening on early stages is associated with mental retardation. We measure the prevalence of PKU on a children population with mental retardation at Cali, Colombia. The methodology in this study is as follow: Blood fixed on paper filter was placed on Elisa plates an Phenylalanine was measured by spectrophotometry. The size population was 626 children from 19 clinical institutions. The age interval varies within 6-16 years old with an average of 10.9 years. The average phenylalanine concentration was 1.132 mg/dL. We reported one case correlated to enzyme disease´s Dihidropterine Reductase (DHPR OMIM# 261630). We proposed a public Health Program to early screening and appropriate treatment on children population.

In 1952 the Swedish parliament commissioned a total evaluation of 13,000 institutionalized individuals designated in the terminology of the day as feeble-minded. The evaluation provides a unique opportunity to attain new knowledge about how the system of institutionalized care of the feeble-minded developed, functioned and was eventually transformed. The main objective of the evaluation, carried out between 1955 and 1959, was to determine if anyone was being held at an institution against their will. Another aim was to find out if inmates were placed in the right type of institution. The same physician examined all 13,000 inmates and the results were nothing less than sensational. Only 39 were considered not to be feeble-minded and only around 500 were considered to be in the wrong type of institution. The institutional system of care for the feeble-minded developed from a few philanthropic institutions in the late 19th century into a complex system of public and private institutions that included various types of schools, work-houses, asylums and hospitals. In order for the system to work it was necessary to transfer inmates between the various institutions, that is, a differentiation process. As the system became more complex new categories of inmates were created and the institutions became more dependent on each other. For the inmates this must have been quite confusing since they were classified differently depending on where they were placed. Initially the dream was to create a rational, modern system of care. The evaluation was thought to be a rational response that would resolve shortcomings in the system, although in the end it revealed that the entire system was clearly irrational. The 1950s mark a turning point, not only in the care of the feeble-minded, but in all types of care, as new experts began questioning the usefulness of institutionalized care.

O presente trabalho apresenta uma pesquisa realizada entre os anos de 2005 a 2007, cujo objetivo principal foi analisar como é feita a Avaliação Inicial do aluno com indícios de Deficiência Mental e que se encontra freqüentando a Escola Regular, na perspectiva inclusiva, e de que forma essa avaliação pode contribuir para o processo de aprendizagem desse aluno. Tal pesquisa apresenta como aporte teórico o referencial sócio-histórico, mais especificamente as contribuições de Lev Seminovich Vygotsky, que defendia a realização de uma avaliação contextualizada da criança e levando em conta o contexto social onde ela está inserida, as relações desse contexto com a sua conduta e as relações da própria criança com o seu todo. A abordagem escolhida foi de natureza qualitativa, tendo como espaço a Rede Municipal de Ensino de Porto Alegre. Como instrumentos metodológicos, foram utilizados: entrevistas semi-estruturadas com professores especialistas que atuam em Salas de Integração e Recursos - SIR da referida rede, visto terem sido identificados como os profissionais que atualmente realizam a avaliação inicial; análise de documentos relativos à avaliação dos alunos encaminhados a essas salas e o diário de campo de toda a trajetória de pesquisa. Buscou-se compreender quais concepções os sujeitos possuem com relação à Avaliação Inicial e qual a sua importância para o processo de aprendizagem do aluno com necessidades educacionais especiais, mais especificamente, com deficiência mental; como tais sujeitos percebem o espaço de apoio no qual atuam - a SIR e de que forma contribuem com a inclusão desse aluno no ensino comum; que sentimentos vivenciam no desenvolvimento de seu trabalho; e, por fim, qual a análise que fazem do movimento inclusivo e como percebem os alunos que atendem e a si mesmos dentro desse movimento. O desenvolvimento da pesquisa possibilitou uma visão de caminho percorrido pela avaliação inicial, que deixa de seguir um modelo clínico para privilegiar um enfoque mais educacional, sendo realizada por educadores especialistas e dentro do próprio ambiente escolar. Embora tenha sido observada certa ausência de sistematização dos procedimentos avaliativos, como também uma relativa variedade quanto aos referenciais teóricos que servem como base para a sua prática, ficou evidenciado que essa avaliação inicial apresenta características de um processo contínuo, que possui estreitas ligações com a avaliação do próprio processo de aprendizagem do aluno. Assim, a maneira como é realizada indica avanços em seu percurso na direção de novos olhares, novas práticas e novos modos de viver em relação. The present work presents a research carried through between the years of 2005 and 2007, whose main objective was to analyze how is made the Initial Evaluation of the pupil with indications of Mental Deficiency that is frequenting the Regular School, in the inclusive perspective, and in which forms this evaluation can contribute for the process of learning of this pupil. Such research presents as theoretical support the social-historical referential, more specifically the contributions of Lev Seminovich Vygotsky, that defended the accomplishment of a contextualized evaluation of the child and taking in account the social context where the child is inserted, the relations of this context with the child’s behavior and the relations of the proper child with everything. The chosen approach was of qualitative nature, having as space the Municipal Network of Education of Porto Alegre. As methodological instruments, it has been used: half-structuralized interviews with professors specialists that work in Rooms of Integration and Resources - SIR of the related network, since they have been identified as the professionals who currently carry through the initial evaluation; analysis of documents regarding the evaluation of the pupils directed to these rooms and the field log of all the trajectory of research. It was searched to understand which conceptions the subjects possess regarding the Initial Evaluation and its importance for the process of learning of the pupil with special educational necessities, more specifically, with mental deficiency; as such subjects perceive the space of support in which they act - the SIR and in which ways they contribute with the inclusion of this pupil in common education; which feelings they live deeply in the development of their work; and, finally, what analysis they make of the inclusive movement and how they perceive the pupils they take care of and themselves inside of this movement. The development of the research made possible a vision of the way covered to the initial evaluation, that stops to follow a clinical model to privilege a more educational approach, being carried through by educators specialists and inside of the proper school environment. Although it has been observed a certain absence of systematization of the evaluative procedures, as also a relative variety regarding the theoretical references that serve as basis for its practice, it was evidenced that this initial evaluation presents characteristics of a continuous process, that possess narrow links with the evaluation of the proper process of learning of the pupil. Thus, the manner it is carried through indicates advances in its way in the direction of new looks, new practices and new ways of living in relation.

O presente trabalho apresenta uma pesquisa cujo objetivo central é discutir a deficiência mental como condição que se desenvolve a partir das relações sociais estabelecidas com sujeitos que apresentam características singulares em relação à maioria da população e não como uma incapacidade própria. Esta visão contraria as concepções tradicionais de deficiência mental e apóia-se na abordagem histórico-cultural, especialmente nas contribuições de Vigotski. A idéia-base é que, mesmo diante de qualquer alteração orgânica, ainda que esta seja em nível estrutural ou funcional do sistema nervoso, é pelas e nas relações sociais que o sujeito se desenvolverá, ou não, como deficiente mental. Como estratégia metodológica, foram utilizados relatos de histórias de vida de três adultos com síndrome de Down que se constituíram como sujeitos sem deficiência mental. Os três se escolarizaram no ensino comum, em diferentes contextos do Brasil e da Espanha, chegando ao ensino superior. Tais histórias podem mostrar que, mesmo na presença de condições orgânicas desfavoráveis, as pessoas se desenvolvem a partir das interações que estabelecem em seus grupos e das condições materiais de vida. A utilização de métodos narrativos em pesquisas sobre a deficiência mental possibilita o reconhecimento dos sujeitos da pesquisa como atores e autores de sua história. No caso desta pesquisa, foram realizadas repetidas entrevistas com os sujeitos-alvo, além de buscas de informações complementares, com professores e familiares, respeitando as especificidades de cada caso.Vivendo em diferentes contextos e de modos muito peculiares, é possível identificar nas três histórias o desafio aos prognósticos de deficiência mental e de baixa escolaridade, mostrando processos de compensação social que possibilitaram a superação de limites, ainda hoje vistos como intransponíveis. Buscou-se compreender os movimentos constitutivos das trajetórias desses sujeitos por meio da análise de eixos de sentido que envolveram: a ruptura com os prognósticos negativos e a construção de outras possibilidades de desenvolvimento, a escolarização na escola comum, a imagem que cada sujeito mostra de si e as vivências no mundo do trabalho. O olhar atento a essas e a outras histórias de ruptura pode nos ajudar a reafirmar que a constituição do ser humano em “humano”, ainda que em condições de desvantagem, se dá na relação com os demais. This piece of research argues that mental deficiency is a condition that arises from social relations established with individuals who present unique characteristics in relation to the major part of population, and not as incapability. Based on a historical-cultural approach, this standpoint goes against traditional concepts of mental deficiency, especially that one informed by Vigotski. Notwithstanding any structural or functional organic alteration in the nervous system, a subject develops himself/herself through social relations – not as a mental handicap. As regards the methods, the story lives’ reports have been used of three adults with Down syndrome, who claimed to be mental deficiency-free. The three of them have been educated in regular schools, in Brazil and Spain, up to undergraduate level. These reports may portray that people develop themselves from interactions established in their groups and according to material resources available, despite their disfavorable organic conditions. Using narrative methods in research on mental deficiency enables one to acknowledge research subjects as actors and authors of their own story. In order to obtain data, target subjects have been interviewed, and mentors and relatives have also supplied additional information, always with respect to the specificities of each case. It was possible to identity challenge apropos the prognostics of mental deficiency and low education level in the three stories in the three different contexts and their very peculiar conditions. Social compensation processes seem to have enabled surpassing limits, which are taken as unsurpassable still in the present. Additionally, this research sought to comprehend constitutive elements of the subjects’ trajectory aforementioned. Directional axes’ analyses involved: breaking down negative prognostics, shaping up varied development possibilities, being educated at regular schools, the self-image each one presented, relations established in their workplace. Looking close at these and other breakthrough stories may help us reassure that one constitutes him/herself a human being relating to others, albeit disfavorable conditions. Este trabajo presenta un estudio cuyo objetivo central es discutir la deficiencia mental como condición que se desarrolla a partir de las relaciones sociales establecidas con individuos que presentan características singulares en relación a la mayoría de la población y no como una incapacidad propia. Esta visión es contraria a las concepciones tradicionales de deficiencia mental y se apoya en el abordaje histórico/cultural, especialmente en las contribuciones de Vigotski. La idea básica es que, aún frente a cualquier alteración orgánica, aunque ésta sea a nivel estructural o funcional del sistema nervioso, será por y en las relaciones sociales que el individuo se desarrollará, o no, como deficiente mental. Como estrategia metodológica, se utilizaron relatos de historias de vida de tres adultos con síndrome de Down que se constituyeron como individuos sin deficiencia mental. Los tres estudiaron en escuelas comunes, en diferentes contextos de Brasil y de España, llegando a la enseñanza superior. Estas historias pueden mostrar que, aún en presencia de condiciones orgánicas adversas, las personas se desarrollan a partir de las interacciones que establecen en sus grupos y de las condiciones materiales de vida. El uso de métodos narrativos en estudios sobre la deficiencia mental facilita el reconocimiento de los individuos del estudio como actores y autores de su historia. En el caso de este estudio, se realizaron repetidas entrevistas con los individuos específicos, además de buscar informaciones complementarias, con profesores y familiares, respetando las especificaciones de cada caso. Viviendo en diferentes contextos y de formas muy peculiares, se puede identificar en las tres historias el desafío a los pronósticos de deficiencia mental y de baja escolaridad, mostrando procesos de compensación social que permitieron la superación de límites, aún hoy vistos como infranqueables. Se ha buscado comprender los movimientos constitutivos de las trayectorias de esos individuos por medio del análisis de ejes de sentido que involucraron: la ruptura con los pronósticos negativos y la construcción de otras posibilidades de desarrollo, el estudio en la escuela común, la imagen que cada individuo muestra de sí mismo y las vivencias en el mundo del trabajo. La mirada atenta a estas y a otras historias de ruptura nos puede ayudar a reafirmar que la constitución del ser humano en “humano”, aún en condiciones de desventaja, se da en la relación con los demás.

Personalised, genotype-based nutrition is a concept that links genotyping with specific nutritional advice in order to improve the prevention of nutrition-associated, chronic diseases. This review describes the current scientific basis of the concept and discusses its problems. There is convincing evidence that variant genes may indeed determine the biological response to nutrients. The effects of single-gene variants on risk or risk factor levels of a complex disease are, however, usually small and sometimes inconsistent. Thus, information on the effects of combinations of relevant gene variants appears to be required in order to improve the predictive precision of the genetic information. Furthermore, very few associations between genotype and response have been tested for causality in human intervention studies, and little is known about potential adverse effects of a genotype-derived intervention. These issues need to be addressed before genotyping can become an acceptable method to guide nutritional recommendations. © The Authors 2007.

Succinic semialdehyde dehydrogenase (SSADH; E.C. 1.2.1.24) deficiency (MIM#271980) is a rare defect of the gamma-aminobutyric acid (GABA) catabolic pathway, resulting in 4-hydroxybutyric acid (GHB) accumulation.1 We report the occurrence of an unusual paroxysmal movement disorder in two affected siblings born of healthy nonconsanguineous Italian parents. This 18-year-old boy presented during childhood with autism, motor stereotypies (trunk swinging), hyperactivity, clumsiness, and hypotonia. Generalized epilepsy manifested at age 7 years, and sleep disorder (compulsive limb movements) manifested at age 10 years. Starting from age 15 years, he had a transient discomfort in the lower limbs while walking. On examination at age 16 years, he presented severe mental retardation, dysarthria, motor stereotypies (chaotic gesticulation, trunk swinging), mild dystonic postures of upper limbs, and paroxysmal exercise-induced dystonia (PED). PED emerged after approximately 100 steps as large amplitude abductor movements of the legs, gait freezing, frightful expression, and occasionally, falling (video E-1 on the Neurology Web site at www.neurology.org); he was able to walk again after resting 5 to …

This study was conducted for the purpose of determining educational needs of parents who have mentally deficient children at the age of 5-10. This study examined the educational needs of parents with mentally deficient children at the age of 5 to 10 as well as analyzing the existence of any differences between parental needs depending on different age groups of children. The sampling, which was formed by random selection, was composed of 364 voluntary parents with mentally disabled children at the age of 5 to 10 and attending a rehabilitation center., The “Educational Needs Form” was used to identify the subjects about which they desired to receive education The form composed of general information about mental deficiency, legal rights, supporting development of children, education of children, communication and participation of children in social activities and one open-ended question. It was seen that parents in all age groups needed education. When necessities of parents were considered depending on age group of children, it was found that families with 5-6 years old mentally deficient children needed “general information about mental deficiencies" more than parents with children in other age groups. All parents need education on such matters as legal rights, supporting child's development, communication and social activities. Although parents in all age groups need education about children's educational requirements, those with children in 5-6 year group bear a higher rate of necessity. Ozet Bu calisma 5-10 yaslarinda zihinsel yetersizligi bulunan cocuga sahip ebeveynlerin egitim gereksinimlerini belirlemek amaciyla yapilmistir. Arastirma grubunu tesadufi yontemle secilen, rehabilitasyon merkezine devam eden 5-10 yaslarinda zihinsel yetersizligi bulunan cocuga sahip gonullu 364 ebeveyn olusturmustur. Ebeveynlerinin egitim almak istedikleri konulari belirlemek amaciyla “Egitim Gereksinimi Belirleme Formu” kullanilmistir. Form, zihinsel yetersizlikle ilgili genel bilgiler, yasal haklar, cocugun gelisimi destekleme, cocugun egitimi, iletisim ve cocugun sosyal aktivitelere katilimla ilgili konulari iceren ve bir acik uclu sorudan olusmustur. Calismanin siralanan konularda tum yas gruplarindaki ebeveynlerin egitim gereksinimi oldugu gorulmustur. Cocuklarin yas gruplarina gore ebeveynlerin gereksinimleri incelendiginde, 5-6 yaslarinda zihinsel yetersizligi bulunan cocuga sahip ailelerin “zihinsel yetersizlikle ilgili genel bilgilere” diger yas gruplarinda cocugu bulunan ebeveynlere gore daha fazla gereksinim oldugu belirlenmistir. Yasal haklarla, cocugun gelisimini destekleme, ebeveynlerin daha fazla oldugu gorulmektedir.

SUMMARY: The National Program of Newborn Screening for research of the Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Sickle Cell Disease and other Hemoglobinopathies, it has as objective precociously to detect and to treat illnesses that, if prevented, prevent sequels as the mental deficiency and others. We intend, through this article, to awake the attention of the health professionals, mainly of the nurses, who act in the attendance of the just-been newborn, of the gestante, the woman in labor and in puerperium, on the importance of the precocious diagnosis of the diseases searched in the Program, with primordial purposes to assist the suckle for its good physical, neurological, psychological and intellectual development, besides offering to familiar the o genetic advise. The examination gratuitous and is supported by law, and so that the prevention is effective, all the Maternities must always carry through the collections of sample of blood of the heel of the high baby in the hospital one. KEY WORDS: Newborn Screening Program; prevention; precocious diagnosis.

When observing the lack and the importance of evaluation in adapted physical education, we have developed this study, which aims at proposing an evaluation methodology for the area, based on adaptive behavior. We have thus created an evaluation sheet and, through observation, we have verified that the researched students have greater difficulty with regards to the academic functions, and greater ease in the area identified as personal care. We also present a few suggested activities aimed at building an evaluation procedure for adaptive behavior based on the studied areas, with an interest in identifying the areas in which students have greater difficulty, and also with an interest in working towards helping these students overcome such difficulties. KEY-WORDS: physical education – physical education for the disabled – evaluation - mental deficiency.

Este artigo tem por objetivo fazer considerações sobre o nascimento de uma criança com necessidades especiais e sobre os conflitos que emergem nos pais (e seus desdobramentos) decorrentes da constatação de que o filho não nasceu saudável. Esses conflitos surgem em razão da confrontação dialética da ilusão de um filho idealizado, no qual os pais projetaram o próprio ego ideal, com a desilusão do nascimento de um filho psiquicamente deficiente, com necessidades especiais. Essas questões são o foco das análises neste trabalho, as quais foram amplamente discutidas na dissertação de mestrado do autor (ver referências), cuja fundamentação teórica tem por base a teoria psicanalítica, notadamente o campo teórico freudiano. Num primeiro momento, serão feitas análises sobre as representações psíquicas, nos pais, acerca do nascimento de um filho considerado saudável e, posteriormente, essas análises serão ampliadas, levando em consideração as construções e desconstruções dessas representações psíquicas nos pais em casos de filhos com necessidades especiais/deficiência mental, particularmente nos primeiros momentos após o nascimento. The objective of this article is to reflect about the birth of a child who has special needs and about the parents' conflicts (as will as the conflicts' extensions) that follow the confirmation that the child isn't healthy. Such conflicts emerge due to the dialectic confrontation of the idealized child illusion, in which the parents projected their own ideal ego, with the desillusion they feel by the birth of a mentally deficient child who has special needs. These issues are the focus of this paper analyses, that were thoroughly discussed in the author's Master Degue paper (as in the Bibliography), in which the theoretical base is psychoanalysis, mainly the freudian field. First the analyses on the parents psychic representations about the child's birth will be made, and these analysis will be then enlarged, taking into consideration these psychic constructions and deconstructions for the parent who have mentally deficient children, mainly in the first moments after birth.

Down Syndrome (DS) or trisomy 21 (T21) is the most frequent and the best known malformation syndrome associated with mental deficiency that appears in human,. Average incidence of this syndrome is about 1:700 newborns. Numerous researchers noted thyroid disorders in people with Down Syndrome but, clinical symptoms of thyroid dysfunction are difficult to separate from DS phenotype. The aim of this study was to examine the thyroid function in the patients with DS. Our results confirmed higher frequency of thyroid dysfunction in DS patients. Higher values of TSH were found in 60,34% of the examined DS patients, which is significantly higher value comparing with the control group (p

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior The importance of the psychologist's work for the service to mental deficient child has been enlarging in the last years, demanding qualified professionals for that practice. This research analyzed how psychologists evaluate their own professional preparation to assist mental deficient children's basic needs. Therefore, in the exploratory phase, the children's basic needs were identified, in special school of the state educational public system of Aracaju/Sergipe, through participant observation with a sample of 07 children in school age. The data of that phase were submitted to the content analysis, it has had as theoretical referential the Hierarchy of the Basic Human Needs systematized by Maslow. As result, was obtained an inventory consisting of 31 identified needs, with base in which the data collection instrument of the research with the professionals was built. This instrument was applied to characterized their performance to assist the raised needs; the preparation sources were identified for its performance and it was established a parallel between those needs group and the demand of the psychology professional's specific service. The instrument, denominated as mixed instrument, has consisted of a check-list included in the body of a structured interview, and applied to a sample of 15 psychologists, with experience in the service to mental deficient children. The data obtained through the check-list were analyzed by quantitative procedures and the interviewees' speeches were analyzed through Content Analysis. The results showed that 60% of the sample feel prepared to assist to the children's basic needs in their totality, being the outstanding professional practice the main preparation source with 24,6% of the answers, as the construction of a specific assistance methodology, what appears for the need of the service systemization with that clientele. The graduation appears in second position of importance with 21,4% of the answers. The qualitative analysis of the psychologists' speeches showed that they try to see the child in his/her totality, considering their basic needs. That result is running into the literature data that refers the psychologist's professional performance centered in the correction of the difficulties presented by the mental deficient children. Based on the evaluation of the graduation disciplines, and suggestions presented by the psychologists for the improvement of the professional preparation in relation to that clientele, the study appears for the need of doing an effective investment during the graduation in Psychology in sense to assist the inclusion needs proposed by the public politics, considering its commitment with the ethical and scientific precepts countersigned in the new Curricular Guidelines for the graduation in Psychology. A importância do papel do psicólogo para o atendimento à criança com deficiência mental tem-se ampliado nos últimos anos, exigindo profissionais habilitados para esse exercício. Esta pesquisa analisou como psicólogos avaliam seu preparo profissional para atender às necessidades humanas básicas de crianças com deficiência mental. Para tanto, na fase exploratória, identificou as necessidades básicas destas crianças, em escola especial da rede pública estadual de ensino de Aracaju/Sergipe, através de observação participante com uma amostra de 07 crianças em idade escolar. Os dados dessa fase foram submetidos à análise de conteúdo, tendo como referencial teórico a Hierarquia das Necessidades Humanas Básicas sistematizada por Maslow. Como resultado, obteve-se um inventário constando de 31 necessidades identificadas, com base no qual foi construído o instrumento de coleta de dados da pesquisa com os profissionais, a qual caracterizou a sua atuação para atender as necessidades levantadas; identificou as fontes de preparo para essa atuação e estabeleceu um paralelo entre o elenco dessas necessidades e a demanda de atendimento específico do profissional de psicologia. O instrumento, denominado de instrumento misto, constou de um check-list incluído no corpo de uma entrevista estruturada, sendo esta realizada com uma amostra de 15 psicólogos, com experiência no atendimento a crianças com deficiência mental. Os dados obtidos através do check-list foram analisados por procedimentos quantitativos e as falas dos entrevistados analisadas por meio de análise de conteúdo. Os resultados mostraram que 60% da amostra sente-se preparada para atender às necessidades básicas das crianças em sua totalidade, sendo a prática profissional destacada como a principal fonte desse preparo com 24,6% das respostas, enquanto lugar para a construção de uma metodologia assistencial específica, apontando para a necessidade de sistematização do atendimento psicológico com essa clientela. A graduação aparece em segundo lugar de importância com 21,4% das respostas. A análise qualitativa das falas dos psicólogos mostrou que eles procuram ver a criança em sua totalidade, considerando suas necessidades básicas. Esse resultado vai de encontro aos dados da literatura que referem a atuação profissional do psicólogo centrada na correção das dificuldades apresentadas pelas crianças com deficiência mental. Com base na avaliação das disciplinas da graduação e sugestões apresentadas pelos psicólogos para a melhoria do preparo profissional em relação a essa clientela, o estudo aponta para a necessidade de se fazer um investimento efetivo durante a graduação em Psicologia no sentido de atender às necessidades de inclusão propostas pelas políticas públicas, considerando o seu compromisso com os preceitos éticos e científicos referendados nas novas Diretrizes Curriculares para os cursos de graduação em Psicologia.

neste trabalho abordamos a importância da imaginação para o desenvolvimento e focalizamos o brincar como uma instância particularmente propícia a esse processo. O papel formativo atribuído a essa atividade é geralmente pequeno, e tende a ser tratada de maneira muito ambígua no trabalho educacional. Esse problema se intensifica quando a deficiência mental está envolvida, devido ao descrédito adicional em relação às possibilidades da criança. Com base na perspectiva histórico-cultural, realizamos um estudo sobre o brincar de doze sujeitos, na faixa etária de 4 a 6 anos, que freqüentavam uma instituição especial. A maioria deles tinha déficits nas áreas de cognição e linguagem; alguns enfrentavam também sérias limitações motoras. O objetivo foi investigar relações entre a mediação de outros - adultos e parceiros - e as ações imaginativas da criança, em termos da capacidade de transcender o campo perceptual imediato e compor seqüências de faz-de-conta. O trabalho de campo consistiu de sessões semanais de brincadeira livre, durante um período de sete meses. As atividades foram gravadas em vídeo, e as análises se guiaram por uma abordagem microgenética. Os achados mostram que, quando deixadas com seus próprios recursos, essas crianças apresentam uma baixa disposição a entrar em brincadeiras coletivas e a compartilhar de diálogos. No entanto, dependendo das formas de mediação dentro do grupo, elas podem engajar-se em situações imaginárias relativamente complexas, com características que sugerem contribuições para o desenvolvimento intelectual, na compreensão do contexto cultural, bem como para a emergência de elaborações criativas sobre o mundo. in this paper we address the importance of imagination in development and focus on play as an especially privileged instance in this process. The formative role ascribed to this activity is often small, and it tends to be treated in a very ambiguous way in educational work. This problem is magnified when mental deficiency is involved, due to the added discredit of the child's possibilities. Based on the historical-cultural perspective we carried out a study on the play of twelve subjects, 4 to 6 year-old, who attended a special institution. Most of them had deficits in the areas of cognition and language; some also presented serious motor limitations. The objective was to investigate the relation between the mediation of others - adults and peers - and the child's imaginative actions, concerning his ability to transcend the immediate perceptual field and to compose make-believe sequences. The field work consisted of weekly sessions of free play, over a seven month period. The activities were video recorded, and the analyses were guided by a microgenetic approach. The findings show that, when left to their own resources, the subjects present a low inclination to join in collective play and to share in dialogues. However, depending on the forms of mediation within the group, they can engage in relatively complex imaginary situations, with characteristics that suggest contributions to intellectual development, in the comprehension of the cultural context, as well as to the emergence of creative elaborations about the world.

The severity and duration of cognitive performance capacity deficits after intravenous administration of propofol were determined using the validated psychological test procedure syndrome short test (SKT), a simple reaction test and original driving licence exam questions. The test battery was performed before, immediately after, as well as 1 and 2 h after propofol administration in 23 persons. Immediately after propofol anaesthesia, six individuals had a slight performance loss, and four subjects showed mild deficits, consistent with medium organic neuropsychologic disorder or dementia. The status of the subjects rapidly changed for the better, and 2 h after propofol anaesthesia, only one person (4%) showed slight deficits of memory and attention. Therefore, it is suggested that patients refrain from any participation in road traffic for at least 2 h after propofol anaesthesia. Driving a car should not be admitted until an interval of 6 h has elapsed.

Objective: To evaluate a single item instrument, the Global Activity Limitation Indicator (GALI), to measure long-standing health related activity limitations, against several health indicators: a composite morbidity indicator, instruments measuring mental health (SCL-90R, GHQ-12), physical co-morbidity and physical limitations (ADLs, SF-36). Methods: Cross-sectional data (n = 9168) of the 2001-National Health Interview Survey in Belgium was used to compare the GALI with other health indicators across gender, age, educational attainment and language. Results: Responses to the GALI were similar to responses to other indicators of physical limitations (Limitations in Activities of Daily Living (by severity or by number of limitations), the SF-36 physical domain), to an indicator of chronic physical comorbidity and to indicators of mental health. The probability of reporting absence of long-standing activity limitation with the GALI was high in subjects without physical limitations or physical or mental conditions. This probability decreased as the severity or number of limitations, the number of physical or mental conditions increased. Conclusions: The GALI performs appropriately against other health indicators and appears to refl ect long-standing activity limitation associated with both mental and physical conditions. © Birkhäuser Verlag, Basel 2006.

En este artículo se presenta un programa de intervención psicológica destinado a proporcionar información sobre cues¬tiones relacionadas con la sexualidad a un grupo de jóvenes con discapacidad intelectual (DI). Dicho programa de educación sexual nace como respuesta a las necesidades planteadas por los profesionales y padres de un grupo de jóvenes con DI pertenecientes a una asociación del Principado de Asturias. En primer lugar, se describen el planteamiento general y los obje¬tivos de dicho programa. En segundo lugar, se detalla el pro¬cedimiento de evaluación seguido tanto para la evaluación inicial como para la valoración de resultados y el seguimiento conse¬cuentes. En tercer lugar, se amplía el diseño y la frecuencia del programa y se concretan las técnicas utilizadas en la ¡mplementación del mismo. En cuarto lugar, se presentan los resultados alcanzados, cuyos datos muestran diferencias sig¬nificativas en las respuestas a los ítems en fundón de los distintos momentos de la evaluación, pretest, posttest y segui¬miento. Las diferencias entre el pretest y el posttest indican que la participación en el programa mejora significativamente el nivel de conocimientos sobre cuestiones relacionadas con la sexua¬lidad, mejora que se mantiene a los tres meses de finalizado el programa. Finalmente, el trabajo termina con la discusión de los resultados y una serie de conclusiones acerca de la eficacia y utilidad del programa con el fin de potenciar su implantación., In this issue a psychological intervention program is presented, aimed at providing information on disability sexuality related issues to a group of youngsters with intellectual disability (ID). Such a sexual education program is bom as a response to the needs raised by professionals and parents of a youngsters group with ID from an association in the Principality of Asturias. Firstly, general approach and objectives of such a program are explained. Secondly, the assessment process used either for the initial assessment or the outcome evaluation as well as the follow up is reported. Thirdly, the program design, frequency and techniques used in its implementation are described. Fourthly, the results obtained are presented. Data show significant differences in items responses according to the assessment different moments, pre-test, post-test and follow up. The differences between pre-test and pos-test point out the significant increasing of acknowledge on sexuality, increasing that is maintained along tree months after the program. Finally, the issue ends with a general discussion about the results and the several conclusions about the program efficacy and utility are commented with the purpose of promoting its implementation.

Objective: To evaluate a single item instrument, the Global Activity Limitation Indicator (GALI), to measure long-standing health related activity limitations, against several health indicators: a composite morbidity indicator, instruments measuring mental health (SCL-90R, GHQ-12), physical co-morbidity and physical limitations (ADLs, SF-36). Methods: Cross-sectional data (n = 9168) of the 2001-National Health Interview Survey in Belgium was used to compare the GALI with other health indicators across gender, age, educational attainment and language. Results: Responses to the GALI were similar to responses to other indicators of physical limitations (Limitations in Activities of Daily Living (by severity or by number of limitations), the SF-36 physical domain), to an indicator of chronic physical comorbidity and to indicators of mental health. The probability of reporting absence of long-standing activity limitation with the GALI was high in subjects without physical limitations or physical or mental conditions. This probability decreased as the severity or number of limitations, the number of physical or mental conditions increased. Conclusions: The GALI performs appropriately against other health indicators and appears to refl ect long-standing activity limitation associated with both mental and physical conditions. © Birkhäuser Verlag, Basel 2006.

Considering the school educational process of mental deficient student, the research purpose was comprise the pedagogical practice aspects of their teachers. For it, we analysed the pedagogical practices of two teachers that work for the First Series of Basic Teaching, considering that one of them work at a regular municipal school and the other at a special school. This study entered on a brief theoretical review about the Brazilian Special Education History and the evolution of the school attending sorts offered to the mental deficient people. To comprise the acquired data we used how theoretical review the Social-Historical Theory by Lev Semenovich Vygotsky and the ecological approach of the Human Development by Urie Bronfenbrenner. Inside the social-historical approach we can emphasize the intervention concept in the comprehension of educational act and the importance of social relations to structure the human conscience along the formal educational process. We used the ecological approach by Urie Bronfenbrenner to consider that a school is a social space able to suffer direct and indirect influences from other systems, displaying in the teacher/student duet the interaction impact lived for the both. We delimited the methodological option to a qualitative approach developed in parameters of the ethnographic case study. How strategy to examine and acquire the data was used the Reflexive Interview from the observation register that, in the research environment, provided to participant teachers a reflection space about their pedagogical practice, providing meaningful changes in their way to discern and to explain the events regarding to these practices and, consequently, challenging changes in their pedagogical actions inside the classroom micro system. The acquired data showed that the pedagogical practice of the mental deficient student teachers must be comprise considering some factors that appear permanently acting on it; for example: the teachers doubts face to the complexity of educational act to teach for mental deficient students; the absence of specific qualification for this teachers in the special education area; the conceptions of development and mental deficiency that aid the teaching practice; the predominance of divergent values between family and school.; and, the dichotomy between the studied theory by teacher and its practical actions in the classroom. On that score, we verify that the educational practices established by teachers of mental deficient children were based on activities that little explored the students abstract thinking, emphasizing the unstructured, repetitive and little meaningful tasks considering the specific features of each student whereas creatures historically established, inside an interaction and specific cultural context. Considerando o processo educacional escolar do aluno deficiente mental, o objetivo da presente pesquisa foi compreender aspectos da prática pedagógica de professores desses alunos. Para tanto, analisamos as práticas pedagógicas de duas professoras de Primeira Série do Ensino Fundamental, sendo uma de uma escola regular da rede municipal de ensino e outra de uma escola especial. Iniciamos o estudo com uma breve revisão teórica sobre a história da Educação Especial no Brasil e a evolução dos tipos de atendimento escolar oferecidos às pessoas com deficiência mental. Para a compreensão dos dados obtidos tivemos como referenciais teóricos a Teoria Sócio-Histórica de Lev Semenovich Vygotsky e a abordagem ecológica do Desenvolvimento Humano de Urie Bronfenbrenner. Dentro da abordagem Sócio-Histórica destacamos o conceito de mediação na compreensão do ato educativo e a importância das relações sociais na formação de consciências humanas ao longo do processo educacional formal. Adotamos a abordagem ecológica de Urie Bronfenbrenner por considerarmos a escola como um espaço social que sofre influências diretas ou indiretas de outros sistemas, demonstrando na díade professor-aluno o impacto interacional vivenciada por ambos. Delimitamos nossa opção metodológica a uma abordagem qualitativa realizada dentro dos parâmetros do estudo de caso etnográfico. Como estratégia de investigação e obtenção de dados foi utilizada a Entrevista Reflexiva a partir do Registro de Observação que, no ambiente da pesquisa, proporcionou às professoras participantes um espaço de reflexão sobre sua prática pedagógica, proporcionando transformações significativas na forma delas perceberem e interpretarem os eventos relacionados a estas práticas e, conseqüentemente, desencadearam mudanças em suas ações pedagógicas dentro do microssistema da sala de aula. Os dados obtidos apontaram que a prática pedagógica de professoras de alunos deficientes mentais deve ser compreendida levando-se em conta alguns fatores que aparecem permanentemente influenciando-a; tais como: as dúvidas da professora frente à complexidade do ato de educar alunos com deficiência mental; a falta de habilitação específica destas educadoras na área de educação especial; as concepções de desenvolvimento e de deficiência mental que subsidiam a prática docente; o predomínio de valores divergentes entre família e escola; e dicotomia entre a teoria estudada pela professora e suas ações práticas em sala de aula. Em decorrência disto, verificamos que as práticas educativas implementadas pelas professoras de crianças deficientes mentais eram baseadas em atividades que exploravam pouco o pensamento abstrato dos alunos, com ênfase em tarefas repetitivas, descontextualizadas e pouco significativas considerando-se as especificidades de cada aluno enquanto seres historicamente constituídos, dentro de um contexto interacional e cultural específico. Mestre em Psicologia

Epilepsy is a common finding in chromosomal imbalances, but only a few chromosome abnormalities have a characteristic electro-clinical pattern. Trisomy X is one of the most common sex chromosome abnormalities in females, and is associated with considerable phenotypic variability. This report describes four 47,XXX females with mental deficiency and epilepsy. Although a specific electro-clinical pattern could not be defined, the epileptic phenotypes of these patients share many features; we suggest that the association 47,XXX/epilepsy/mental retardation may not be coincidental. This report also enlarges the clinical spectrum of the 47,XXX phenotype. Moreover, these observations highlight the critical role of chromosome X in epilepsy and mental retardation.

Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. The responsible gene has been assigned to a 5.2 Mbases interval on chromosome 19q in a single French family.

The mental retardation protein FMRP is involved in the transport of mRNAs and their translation at synapses. Patients with fragile X syndrome, in whom FMRP is absent or mutated, show deficits in learning and memory that might reflect impairments in the translational regulation of a subset of neuronal mRNAs. The study of FMRP provides important insights into the regulation and functions of local protein synthesis in the neuronal periphery, and increases our understanding of how these functions can produce specific effects at individual synapses. ispartof: Nature reviews neuroscience vol:6 issue:5 pages:376-387 ispartof: location:England status: published

Every day the school faces the challenge of teaching with quality all the students but without having a lot of success in working with the diversity because of the verified absence of a serious and effective politics of inclusive education in most of the school systems. In the students with special education needs case, the access to a common class in regular schools has being minimum and there are several no solved questions on how the philosophical beginning of school inclusion could happen in practice, not only promoting the socialization but also those students' school income. An alternative thoroughly emphasized has been the need of teachers' qualification who have already been working with those students in their groups. And the scientific literature of more experienced countries in practices of school inclusion has being choosed the collaborative work in the school context as a strategy in ascension, that has shown effectiveness to solve several problems related to the process of teaching and learning and to promote the educators' personal and professional development. The objective of this study consisted in verifying the implications of one way of collaborative work in the school that would be denominated "collaborative teaching" which involves the establishment of a partnership basically among teachers of regular and special teaching. The study was driven at two common schools of elementary teaching, and more directly in four groups from 1st to 4th grades where six students with mental deficiency were inserted. Before and after the intervention, academic and social acting measures of all the students of the four groups were collected. The intervention based in the collaborative teaching involved the establishment of a partnership with the teacher of the special teaching systematic support inside the common class together with the teacher of the regular teaching, in some days of the week and activities planned extra-class, reflection on the practice, meetings with relatives, meetings with the school group and driven studies. The intervention in each group lasted from one semester to one year, and the study had total duration of two years, evolving the attendance in the four groups. After the intervention stage measures of social validity based on the teachers' and families´ opinions on the teaching collaborative were collected. The intervention based on collaborative teach involved a partnership determined by the sistematic support of the special education teacher inside the usual classroom, with the regular education teacher, in some days of the week, besides the extra-class activities with planning, reflexion about the practice, meetings with the student´s families, meetings with the coletive of school and conducted study. The intervention in each group, last since six months to one year, and all the study lasted two years including the four groups attendance. After the intervention stage, social information were colected based on teacher´s and families´s statement about collaborative teaching. The results indicate that all the six students had evoluted in the acting even academic or in socialization, although considerable discrepancy is observed in comparison with the average yield of the group. For all of the teachers the teaching collaborative made possible personal and professional development but some difficulties appeared mainly in the united activities in the classroom atmosphere. The relatives considered that their children had improvements and they felt safer for the fact of having two teachers in the room. The study also indicated that the collaborative teaching was evaluated as an effective strategy of the teachers' personal and professional development involved in practices that seek the school inclusion. As implications of the study, we discuss about the need of changes in the culture of initial and continuous formation of common and special education teachers to prepare them to really act in collaboration. It is still discussed the new role of the special education teacher to act priory as support centered in the common class and not just in services that involve the students' retreat with special education needs of the group or exclusively in segregated services. Cada dia mais a escola enfrenta o desafio de ensinar com qualidade todos os alunos, mas, sem ter muito sucesso em lidar com a diversidade porque se constata a ausência de uma política séria e efetiva de educação inclusiva, na maioria dos sistemas escolares. No caso dos alunos com necessidades educacionais especiais, o acesso a uma classe comum, nas escolas, ainda continua mínimo e persistem várias questões não resolvidas sobre como operacionalizar na prática o princípio filosófico da inclusão escolar, de modo a promover, não apenas a socialização, mas também, o rendimento escolar desses alunos. Uma alternativa amplamente enfatizada tem sido a necessidade de melhorar a qualificação dos professores que já se defrontam com esses alunos em suas turmas. E, a literatura científica de países mais experientes em práticas de inclusão escolar aponta o trabalho colaborativo no contexto escolar como uma estratégia em ascensão que tem se mostrado efetiva, tanto para solucionar problemas diversos relacionados ao processo de ensino aprendizagem quanto para promover o desenvolvimento pessoal e profissional dos educadores. O objetivo deste estudo consistiu em verificar as implicações de uma das formas de trabalho colaborativo na escola, denominado ensino colaborativo que envolve basicamente o estabelecimento de uma parceria entre professores de ensino comum e especial. O estudo foi conduzido em duas escolas de ensino fundamental, mais diretamente, em quatro turmas de 1ª a 4ª série nas quais estavam inseridos seis alunos com deficiência mental. Antes e depois da intervenção foram coletadas medidas de desempenho acadêmico e social de todos os alunos das quatro turmas. A intervenção baseada no ensino colaborativo envolveu o estabelecimento de uma parceria com apoio sistemático do professor de ensino especial dentro da classe comum, juntamente com o professor do ensino comum, em alguns dias da semana, além de atividades extra-classe de planejamento, reflexão sobre a prática, reuniões com familiares, reuniões com o coletivo da escola e estudos dirigidos. A intervenção em cada turma durou de um semestre a um ano, e o estudo teve duração total de dois anos, compreendendo o acompanhamento nas quatro turmas. Após a etapa de intervenção foram coletadas medidas de validade social baseada nas opiniões das professoras e das famílias sobre o ensino colaborativo. Os resultados indicam que todos os seis alunos tiveram evolução no desempenho tanto acadêmico como de socialização, ainda que se observe discrepância considerável em comparação ao rendimento médio da turma. Para todas as professoras o ensino colaborativo possibilitou desenvolvimento pessoal e profissional, mas algumas dificuldades surgiram no tocante principalmente às atividades conjuntas no ambiente de sala de aula. Os familiares consideraram que seus filhos melhoraram e sentiram-se mais seguros pelo fato de ter duas professoras na sala. O estudo indicou ainda que o ensino colaborativo foi avaliado como efetivo enquanto estratégia de desenvolvimento pessoal e profissional dos professores envolvidos em práticas que visam à inclusão escolar. Como implicações do estudo discute-se a necessidade de mudanças na cultura da formação inicial e continuada de professores do ensino comum e especial de modo a prepará-los para atuar efetivamente em colaboração. Discute-se ainda a necessidade de redefinir o papel do professor de ensino especial para atuar prioritariamente como apoio centrado na classe comum e não apenas em serviços que envolvam a retirada dos alunos com necessidades educacionais especiais da turma ou, exclusivamente, em serviços segregados.

A case of tuberous sclerosis (TS) with classic triad of seizures, mental deficiency and angiofibromas is presented. The child also presented with self-mutilating behavior, which resulted in the fracture of her anterior teeth. A comprehensive treatment was rendered to the patient under general anesthesia and a mouth guard was given to prevent further trauma to the teeth.

We report tetraploid/diploid mosaicism in a boy and two girls detected by cultured skin fibroblasts. In all these children, interphase-FISH using DXZ1 probe confirmed the original karyotype. Tetraploid mosaicism was also confirmed by alpha-satellite probes from chromosomes 2, 6, 7, 9, 10, 17, 18 and Y in fibroblasts from the boy. The common features in these children are failure to thrive, slight mental deficiency and some degree of body asymmetry. The advantage of using interphase-FISH is the possibility of analysing a great number of cells in short time, thus giving a more precise percentage with regard to abnormal cells.

A inclusão escolar de portadores de deficiências tem sido a proposta norteadora e dominante na Educação Especial no Brasil nos últimos anos. Esta pesquisa teve por objetivo descrever e analisar a interação social entre três alunos das primeiras séries do Ensino Fundamental com Deficiência Mental (DM) e seus colegas, em três escolas-pólos municipais de Vitória, ES. Aplicaram-se a todos 80 alunos testes sociométricos com perguntas sobre três escolhas e três rejeições para brincar e realizar tarefas escolares; foram filmadas 15 sessões de observações na situação de recreio, cinco para cada um dos três sujeitos focais. Esses dados foram compatíveis com aqueles obtidos nos testes sociométricos, mostrando que esses os alunos com DM são menos aceitos e são mais rejeitados do que seus colegas, passando a maior parte do tempo de recreio sozinhos, demonstrando dificuldades para iniciar, manter e finalizar os contatos sociais com os colegas. The inclusion of bearers of deficiencies in schools has been a guiding and dominating proposal in Special Education, including in Brazil, and has directed rehabilitation and educational programs and policies. The aim of this study was to describe and to analyze the interaction among three students with Mental Retardation (MR) and their peers. The study was carried out with first-grade students of three core municipal schools of the city of Vitória, ES, Brazil, who had classmates who were bearers of MR. All 80 students were given a sociometric test containing questions on three choices and rejections of classmates with whom to play and to accomplish classroom tasks. Fifteen observation sessions were recorded, five for each target children (plus an extra one for one of the children), during an entire month. The results showed that students who have special education needs are less frequently accepted and more frequently rejected than their peers in regular classrooms. It was noted that subjects spent most of their time alone, showing difficulties in initiating, maintaining and finalizing contacts with their classmates.

Submitted by Boris Flegr (boris@uerj.br) on 2021-01-05T21:53:39Z No. of bitstreams: 1 MARIA HELENA.pdf: 260464 bytes, checksum: 413ccaa6b02a3672833cb7cbfc7e7b53 (MD5) Made available in DSpace on 2021-01-05T21:53:39Z (GMT). No. of bitstreams: 1 MARIA HELENA.pdf: 260464 bytes, checksum: 413ccaa6b02a3672833cb7cbfc7e7b53 (MD5) Previous issue date: 2004-02-17 The importance of getting mentally disabled people into the job market has been increasing the interest of find out new strategies to use in special actions to develop education that give these people opportunity to get a job with others members of society.This work is the outcome of a research that interviewed mentally disabled adults and young people who had been able to find a job in spite of their obvious difficulties. Based on their report we looked for relevant facts that contributed to their personal and professional development.This research has been done by means of the life-history method which focused on their feelings and experiences from their achievements. We have interviewed fifteen people in the present work, completely adapted to their labour market, who consistently reported in their speeches: scholar performance, job routine, professional attitudes, necessary adaptations.The final conclusion of the present work is that after getting into the job market, many aspects of their personal lives such as: self-esteem, independence, autonomy as well as equality in treatment. The success of this work will depend on the necessary adaptations for their specific functions. A importância cada vez maior que vem sendo dada à inserção da pessoa com deficiência mental no mercado de trabalho nos últimos anos, leva a estudos que se concentram em buscar estratégias de ação para uma educação voltada para a preparação profissional onde os indivíduos com deficiência mental consigam um lugar junto a outros trabalhadores. Este trabalho é o resultado de uma pesquisa que entrevistou jovens e adultos com deficiência mental que, apesar de todas as dificuldades conseguiram se inserir no mercado formal de trabalho, buscando através de seus relatos pessoais, fatos relevantes que contribuíram para seu desenvolvimento pessoal e profissional. A presente pesquisa foi realizada utilizando o método de História de Vida, e através de entrevistas abertas com quinze indivíduos portadores de deficiência mental, que estão inseridos no mercado de trabalho, objetivou apreender suas vivências quanto à inserção no mercado de trabalho. Vários temas marcaram suas falas e, entre esses destacam-se a sua trajetória escolar e profissional; a rotina de trabalho, enfatizando atitudes profissionais e adaptações necessárias; o significado que o trabalho tem para eles; e seu relacionamento com os colegas. Esses temas são discutidos no corpo do trabalho. Pelos dados obtidos, pode-se concluir que após estarem inseridos, no mercado de trabalho houve melhoria em vários aspectos de sua vida como: no aumento da auto-estima, independência, autonomia, sentimento de igualdade aos demais membros da família, entre outros. Também ficou claro que o sucesso do trabalhador com necessidades especiais depende, em grande parte, da existência em seu local de trabalho das adaptações que se fazem necessárias para a realização das atividades de sua função.

Orientador: Paulo Ferreira de Araujo Tese (doutorado)- Universidade Estadual de Campinas, Faculdade de Educação Fisica Resumo: O objetivo do estudo foi caracterizar, por meio de uma abordagem transversal, o comportamento das variáveis da coordenação motora global em pessoas portadoras de deficiência mental, procurando estabelecer equações generalizadas para ser empregado em futuras análises, tanto no sentido diagnóstico como no de desempenho. A amostra utilizada constitui-se de 236 sujeitos de ambos os sexos, sendo 149 meninos e 87 meninas, com idade entre 7 e 14 anos, matriculados nas AP AEs da Região Noroeste e Oeste do estado do Paraná. As características de crescimento foram determinadas a partir das medidas de estatura e peso corporal. Para a composição corporal recorreu-se às espessuras de dobras cutâneas determinadas nas regiões tricipital e subescapular. Quanto a coordenação motora, foi administrada a bateria de testes KTK. A técnica de regressão múltipla foi usada no desenvolvimento das equações para a estimativa da Coordenação Motora em portadores de Deficiência Mental. Os valores encontrados para os meninos na correlação múltipla neste estudo foram de 0,9991, com um R2 de 0,9983, equivalente a 99,83% e com um erro paàrão (Ep) de 0,7957, e para as meninas uma correlação múltipla de 0,9956, com um R2 de 0,9912, equivalente a 99,12% e com um erro padrão (Ep) de 1,79.0s resultados deste estudo sugerem as seguintes conclusões: quando comparados com os valores médios obtidos em outras populações, como por exemplo, com os estudos de Kiphard e Schilling (1974), verificamos que os resultados médios do nosso estudo são mais baixos; o IMC têm influência fraca e moderada nos resultados de cada teste, principalmente nos saltos monopedais e laterais, portanto, podemos afirmar que os valores de IMC estão ligeiramente associados ao nível de desenvolvimento coordenativo; que provavelmente o estado sócioeconômico, meio ambiente, associados a sua deficiência e à reduzida prática motora estruturada e orientada, entre outros, são fatores responsáveis pelo nível insuficiente de desenvolvimento coordenativo e que as equações desenvolvidas são válidas para a estimativa da coordenação motora Abstract: The aim of the study was characterize, through a transversal approach, the behavior of the variants of global motor coordination in people bearers of mental deficiency, looking for establish generalized equations to be employed in future analyses, both in diagnose and in performance senses. The sample used is constituted of 236 subjects of both sexes, being 149 boys and 87 girls, with age ranging ITom 7 and 14 years old, matriculated in the Northwest and West regions' AP AEs of state of Paraná. The characteristics of growing were determined ITom measurements of height and body weight. To the body composition we utilized the thickness of skin wrinkles determined in the tricipital and subscapular regions. Related to the motor coordination, was administered the KTK tests battery. The technique of multiple regressions was used in the development of the equations to the estimative of Motor Coordination in bearers of Mental Deficiency. The values found to boys in multiple correlation in this study were of 0.9991, with a R2 of 0.9983, equivalent to 99,83% and with a standard deviation of (SD) 0,7957, and to girls a multiple correlation of 0,9956, with a R2 of 0,9912, equivalent to 99,12% and with a standard deviation (SD) of 1,79. The results of this study suggest the following conclusions: when compared to the mean values obtained in other populations, as for instance, with Kiphard and Schilling's studies (1974), we verify that the mean results of our study are lower; the BMI has weak and moderate influence on the results of each test, mainly in monopedal and lateral jumps, so, we can assume that the BMI values are slightly associated to coordinative development leveI; that probably the socioeconomics status, environment, associated to its deficiency and to the reduced structured and oriented motor practice, among others, are the responsible factors for the insufficient leveI of coordinative development and that the developed equations are valid to the estimative of motor coordinatioil Doutorado Atividade Física, Adaptação e Saúde Doutor em Educação Física