INTRODUÇÃO: A Síndrome de Rubinstein-Taybi (RTS) é uma doença genética rara, caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, deficiência mental e baixa estatura. A incidência estimada é de 1: 125 000 a 1: 330000 nativivos. A SRT geralmente ocorre esporadicamente, mas pode ser herdada com um padrão de herança autossômico dominante. O diagnóstico da SRT é essencialmente clínico. OBJETIVOS: Realizar o estudo genético-clínico e citogenético em 30 pacientes brasileiros com SRT, e descrever de forma sistematizada a freqüência de dismorfismos faciais e malformações múltiplas encontradas. MÉTODOS: Neste estudo observacional retrospectivo e prospectivo, os pacientes foram seguidos no período de agosto de 2005 a junho de 2009. O cariótipo com bandeamento G foi realizado em todos os pacientes. RESULTADOS: A maioria dos pacientes avaliados foi do sexo feminino (60%). As seguintes características foram observadas em todos os pacientes da nossa casuística: atraso de desenvolvimento neuropsicomotor, ponta nasal voltada para baixo, columela proeminente, sorriso característico, dificuldades alimentares na infância, persistência dos coxins fetais, falanges distais dos polegares alargadas e pés planos. A baixa estatura e a microcefalia foi observada em 80% e 76% dos casos, respectivamente. As principais características craniofaciais observadas foram: fronte proeminente (86%), ponte nasal larga (60%), hipertelorismo (70%), sobrancelhas espessas e arqueadas (96%) cílios longos em 93%, prega epicântica (76%), fissura palpebral infra vertidas (76%), abertura bucal estreita (93%), retrognatismo (76 %), sorriso característico em 100%, palato alto e estreito (93%), anomalias dentárias (83%). Outras anomalias identificadas foram: estrabismo, erros de refração, obstrução do canal lacrimal, háluces e polegares alargados, angulação de polegares, anomalias do pavilhão auricular (rotação/posição/tamanho/forma), angulação do hálux, clinodactilia, sobreposição dos pododáctilos, falanges distais alargadas de outros dedos, marcha rígida, hipotonia, sopro cardíaco, cardiopatia congênita, criptoquidia, hemangioma plano e hipertricose. Uma paciente apresentou translocação recíproca de novo 46, XX, t (2; 16)(q36.3; p13.3). CONCLUSÕES: A raridade da SRT e o amplo espectro das manifestações clínicas pode atrasar o diagnóstico clínico. A média da idade ao diagnóstico dos nossos pacientes com SRT foi de três anos e oito meses. Todas as crianças devem receber avaliação por geneticista pediátrico, cardiologista, oftalmologista, neuropediatra, e odontopediatra / INTRODUCTION: Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder characterized by distinctive craniofacial dysmorphisms, broad thumbs and toes and mental and statural deficiency. The prevalence of RTS has been estimated to be 1 in 125000 to 1: 330000 live births. RTS usually occurs sporadically although it can be inherited as an autosomal dominant disorder. The diagnosis of RTS is primarily based on clinical features. OBJECTIVES: We performed a clinical and cytogenetic assay in a group of 30 Brazilian RTS patients. We also decribed the frequencies of facial dysmorphisms and multiple malformations. METHODS: In this observational retrospective and prospective study, the patients were followed from August 2005 to June 2009. Chromosomal analysis was performed by G-banding karyotype. RESULTS: Most of the patients were female (60%).The following abnormalities were present in all of the patients: delayed psychomotor development, beaked nose, proeminent collumel, typical facies, broad thumbs and toes, flat feet, joint laxity, feeding problems during the childhood, and finger pads. Short stature was present in 80%, and microcephalia in 76% of the cases, respectively. Main craniofacial characteristics are frontal bossing (86%), wide nasal bridge (60%), ocular hyperthelorism (70%), high arched eyebrows (96%), long eyelashes (93%), epicathal folds (76%), downslanting palpebral fissures (76%), small opening of the mouth (93%), retrognathism (76%), grimacing smile (100%), high arched palate (93%), and dental anomalies (83%). Other findings were: strabism, refractive error, lacrimal obstruction, wide thumb and halux, angulated thumbs, external ears anomalies (rotation, implantation and morfology), angulated halux, clinodactyly, crowded toes, broad distal falanges of other fingers, stiff gait, hipotonia, cardiac murmur, congenital heart defect, undescendent testis, hypertrichosis, and hemangioma. One female patient has found to have a reciprocal de novo translocation t(2;16)(q36.3;p13.3) on G-banding karyotype CONCLUSIONS: The rarity of RTS and the wide spectrum of clinical manifestations, may delay the clinical diagnosis of RTS. The average age at the diagnosis of our patients was 3 years and 8 months. All children of RTS should receive an evaluation by a pediatric geneticist, cardiologist, ophthalmologist, pediatric neurologist, and pediatric dentist

Esta tese tem como objeto de estudo as relações iniciais entre Psicologia e Educação Especial, na área específica da deficiência mental. As primeiras escolas de Educação Especial na área de deficiência mental nasceram, no Brasil, no final do século XIX, anexas aos hospitais psiquiátricos, por iniciativa de médicos que atuavam nesses hospitais. No início do século XX, com as reformas educacionais vinculadas ao avanço da Psicologia como campo de conhecimento científico, as práticas em Educação e Educação Especial, no que tange à deficiência mental, passaram a ser embasadas nessa Psicologia nascente. Com uma abordagem funcionalista, as diferentes teorias psicológicas foram utilizadas para instrumentalizar os professores na prática pedagógica e esses conhecimentos assumiram a primazia do saber educacional especializado. Os testes psicológicos tornaram-se os instrumentos mais utilizados para o reconhecimento da deficiência. Impulsionada pelo movimento escolanovista e da higiene mental, a Psicologia desponta como área de conhecimento necessária à compreensão do educando e ao estabelecimento de critérios de normalidade-patologia-deficiência. O objetivo do presente trabalho é compreender como se deu a inserção da Psicologia como área de estudo e atuação profissional na educação da criança com deficiência mental no Brasil, nas décadas de 1900 a 1930. Para isso, o trabalho foi dividido em três etapas. Na primeira, busca-se construir alguns itinerários históricos de uma Psicologia na Educação Especial e para isso foi utilizada bibliografia específica da história da Educação Especial e da história da Psicologia no Brasil. Essa construção histórica revelou personagens que contribuíram decisivamente para as práticas psicológicas na área, como Helena Antipoff. Dessa forma, na segunda etapa do trabalho são apresentadas as ideias, percursos e propostas de Helena Antipoff na área da deficiência mental, bem como uma pesquisa de campo realizada no Instituto Pestalozzi de Belo Horizonte, instituição fundada pela própria Antipoff, em 1935, e que se revelou como síntese das ideias de uma Psicologia na Educação Especial vigentes no país. Esta pesquisa, de caráter documental, teve por fonte de dados os prontuários de dez crianças, alunos da Instituição durante a década de 1930 (1935-1939), período de sua fundação e quando a própria Antipoff era sua diretora. O procedimento para a coleta de dados foi construído no decorrer da pesquisa e a partir da entrevista com os psicólogos que trabalham atualmente na Instituição, os quais indicaram os documentos que estavam disponíveis sobre o período estudado. Além da análise geral desses prontuários, a pesquisa contém uma análise mais aprofundada de um único prontuário. O objetivo desta pesquisa foi o de compreender como se efetivou a prática psicológica na Educação Especial no período estudado. A terceira etapa apresenta uma análise histórico-crítica do que foram os primeiros passos da Psicologia na Educação Especial. A história revelou que as principais práticas da Psicologia com crianças consideradas deficientes mentais se basearam na psicometria e na psicomotricidade. A psicometria teve a função de reconhecer as crianças com deficiência mental no universo escolar e, por isso, a Educação Especial confundiu-se com políticas para a redução do fracasso escolar, do qual a escola pública era vítima. A psicomotricidade foi amplamente utilizada para o tratamento da criança anormal, uma vez que se considerava que a maturidade física e mental precedia a aprendizagem e o desenvolvimento intelectual. Sendo assim, a Psicologia acabou reproduzindo a ideologia liberal que sustentava o pensamento educacional brasileiro, constituindo práticas que atualmente consideramos como segregadoras e que atingiram amplamente as crianças das classes populares, as quais foram encaminhadas para o atendimento educacional especializado / This thesis aims to study the initial relations between psychology and special education in the specific area of mental retardation. The first special education schools in the area of mental retardation in Brazil began at the end of the 19th century, annexed to psychiatric hospitals as an initiative of doctors who worked in these hospitals. In the beginning of the 20th century, the educational reforms associated with the advance of psychology as a field of scientific knowledge, practices in education and special education, concerning mental retardation, became based on the emergent psychology. With a functionalist approach, different psychological approaches were used to instrumentalize the teachers in the pedagogic practice and this knowledge occupied the primacy of specialized educational knowledge. Psychological tests became the most utilized instruments for identification of retardation. Driven by the escolanovista and mental hygiene movements, psychology appears as an essential area of knowledge in order to comprehend the student and to establish normality-pathology-retardation criteria. The objective of this work is to understand how psychology became included as a study and professional area in educating children with mental retardation in Brazil between 1900 and 1930. Thus, the work was divided into three steps. The first step aims to construct some historical itineraries of psychology in special education and uses specific bibliographical material on the history of special education and psychology in Brazil. This historical construction revealed individuals who decisively contributed to psychological practice in this area, such as Helena Antipoff. In this way, in the second step, Helena Antipoff\'s ideas, trajectories and proposals in the area of mental retardation, as well as a field research conducted at the Pestalozzi Institute in Belo Horizonte, an institution founded by Antipoff in 1935, and which proved to be a synthesis of ideas of inclusion of psychology in special education in the country. This research was documental and the data source were the medical files of ten children who were students at the institute in the 1930s (1935-1940), its foundation period and when Antipoff herself was the director. The data gathering procedure was developed throughout the research and from the interviews with psychologists who currently work at the institute, and who indicated available documents about the studied period. Apart from the general analysis of these medical files, the research contains a more in-depth analysis of a single file. The objective of this research was to understand how psychological practice established itself in special education during the studied period. Finally, the work presents a historical-critical analysis of the initial stages of psychology in special education. History revealed that the main psychological practices with children considered to be mentally retarded were based on psychometry and psychomotricity. Psychometry had the role of identifying children with mental retardation in the school environment, thus special education was confused for policies to reduce failures in the school, and public schools were victims. Psychomotricity was widely used to treat abnormal children since physical and mental maturity was believed to precede learning and intellectual development. Therefore, psychology ended up reproducing a liberal ideology that supported the Brazilian educational vision, leading to practices that we currently consider to be segregationist and which caught up with children of the popular classes, who were referred for specialized education

Notre but de comprendre les mécanismes constitutifs de la déficience intellectuelle et de la dyspraxie verbale, deux pathologies qui affectent les performances aux tests psychométriques. Nous avons sélectionné plusieurs processus pouvant contribuer à l’explication de ces troubles : la vitesse de traitement de l’information et la mémoire travail pour la déficience intellectuelle ; et l’apprentissage procédural pour la dyspraxie verbale. Dans une première étude, nous avons montré que dans la population « tout venant » d’enfants non déficients, la vitesse de traitement augmente avec l’âge. Notre seconde expérience a montré que des patients déficients intellectuels avaient la même vitesse de traitement que des enfants plus jeunes appariés sur l’âge mental. Par ailleurs, nous avons montré que ce ralentissement est similaire dans le syndrome de l’X-Fragile et dans la Trisomie 21. Inversement, la vitesse de traitement des enfants dyspraxiques verbaux est préservée. Ces résultats viennent discuter les deux modèles théoriques de l’intelligence que nous avons choisis comme référence, le modèle en cascade de Fry & Hale (1996) et le modèle d’Anderson (1992). Dans le second volet de nos recherches, nous avons mis en évidence un apprentissage procédural implicite comparable dans deux groupes d’enfants d’âges chronologiques différents malgré des temps de réaction plus importants chez les plus jeunes. La seconde étude montre une préservation de l’apprentissage procédural implicite dans le syndrome de l’X-Fragile et une altération spécifique dans la Trisomie 21. Cela démontre que ce processus est indépendant du QI et varie selon les syndromes. Notre dernière étude montre un trouble important de l’apprentissage procédural implicite dans la dyspraxie verbale, confortant notre hypothèse de départ. L’ensemble de ces résultats est discuté au regard des travaux antérieurs et des modèles théoriques afin de proposer des ouvertures tant théoriques que cliniques. / Our aim is to understand previous process in mental retardation and childhood apraxia of speech (CAS). There are both neurodevelopmental disorders which affect psychometric assessment. We have selected several processes which could explain these disorders such has speed of information processing, working memory for mental retardation and implicit procedural learning for childhood apraxia of speech. In our first study, we have demonstrated within two groups of typical children without disorders that speed of processing increased with chronological age. In the second study, our results have demonstrated the same speed of processing between a group with mental retardation and with mental age matched control group. Moreover, Down and Fragile X syndrome have the same speed of information processing. On the contrary, in our third study, children with CAS and chronological age matched control group have the same speed as process visual information. All results are important to discuss both theories of intelligence we have chosen: the cascade model (Fry and Hall, 1990) and the minimal cognitive architecture (Anderson, 1992). In the second experimental part, our first results have shown a different reaction time between the two groups of young children but both have learned the sequence in a serial reaction time task (implicit procedural learning test). The second study have demonstrated preserved implicit learning in Fragile X but altered learning in Down syndrome. The difference between to these two genetics syndromes is a proof of implicit sequence learning is independent of IQ. The latest results have shown severe implicit procedural learning impairment in CAS. We conclude that this is the cause of CAS.Our discussion is about all results and links between intelligence and disorders with regard to previous studies. Those results aim for both theorical and clinical openings.

Mental retardation is a heterogeneous group of disorders with countless causes. It is characterised by cognitive and functional limitations in everyday skills, for example social skills, communication skills and motor skills and can be classified in behavioural, etiological and educational systems. Down's syndrome and Fetal Alcohol Syndrome are two of the many syndromes defined under mental retardation. The goal of this dissertation was to determine the effect of a water activity intervention programme on the motor proficiency levels of children with Down's syndrome and Fetal Alcohol Syndrome. These aims were addressed by structuring the dissertation in five chapters: Chapter one constituting the introduction and statement of the problem, Chapter 2 presenting a review of relevant literature, Chapters 3 and 4 consisting of two research articles, addressing the specific aims of the study, and Chapter 5 including the summary, conclusions and recommendations. All the children who participated in the study were intuitionalized in a school for the mentally and physically handicapped. The MABC-test was used as the main evaluation instrument, and components of the Charlop-Atwell test were used to evaluate the coordination skills of the children with Down's syndrome. The first aim of this study was to determine the effect of a specially designed water activity intervention programme on the motor proficiency levels of children with Down's syndrome. Six children classified as having Down's syndrome, formed part of the research group. Their chronological age ranged between 9 and 14 years while their mental age classification was that of a 4 to 5 year old. The data was analysed by means Summary of descriptive statistics, and effect sizes were determined. The second aim of the study was to determine the effect of a water activity intervention programme on the motor proficiency levels of children with Fetal Alcohol Syndrome. Six children participated in the programme. Their chronological age ranged between 7 and 17 years while their mental age classification was that of a 4 to 11 year old. Reporting the results were in the form of case studies, and effect sizes of differences were determined. With regard to the first aim of the study the results indicated that the motor proficiency levels of the experimental group with Down's syndrome improved, especially regarding the MABC-total, balance- and total body coordination skills. With reference to the second aim of the study, the results indicated that improvement in the motor proficiency levels of the children with Fetal Alcohol Syndrome had a lasting effect. The MABC total, ball skills and manual dexterity were the components that showed the best improvement. It can be concluded that a water activity intervention programme is a suitable method for rectifying motor deficiencies among children with Down's syndrome and Fetal Alcohol Syndrome. Recommendations for the improvement of the water activity programme were presented, as well as suggestions for further studies. / Thesis (M.A. (Human Movement Science))--North-West University, Potchefstroom Campus, 2004.

Ugdymo ir socialinės integracijos garantijos sudaro sąlygas atskleisti ir plėtoti negalių turinčių vaikų ir suaugusių asmenų potencialą, turi svarbų vaidmenį asmens intelektinių, socialinių ir kt. gebėjimų raidai. Tačiau net ir įstatymiškai įteisintomis integracijos sąlygomis kai kurios negalių turinčių asmenų grupės patiria tam tikrų socializacijos problemų, susijusių tiek su nepalankiomis visuomenės nuostatomis, negalės stereotipais, tiek ir su neįgaliųjų elgsenos ypatingumais. / Scientific problem in the dissertation research is specified according to the following problem questions: How do the strategies for social skills’ education, which are oriented towards the strengths of a pupil and the system of interactions among education participants, function in the educational practice? What particularities of the application of social skills’ strategies (pupil’s strengths and education participants’ system) do the experience of education participants reveal? What positive and problem aspects of the interaction among education participants do the education in the system child-family-school highlights.

Mental retardation is a heterogeneous group of disorders with countless causes. It is characterised by cognitive and functional limitations in everyday skills, for example social skills, communication skills and motor skills and can be classified in behavioural, etiological and educational systems. Down's syndrome and Fetal Alcohol Syndrome are two of the many syndromes defined under mental retardation. The goal of this dissertation was to determine the effect of a water activity intervention programme on the motor proficiency levels of children with Down's syndrome and Fetal Alcohol Syndrome. These aims were addressed by structuring the dissertation in five chapters: Chapter one constituting the introduction and statement of the problem, Chapter 2 presenting a review of relevant literature, Chapters 3 and 4 consisting of two research articles, addressing the specific aims of the study, and Chapter 5 including the summary, conclusions and recommendations. All the children who participated in the study were intuitionalized in a school for the mentally and physically handicapped. The MABC-test was used as the main evaluation instrument, and components of the Charlop-Atwell test were used to evaluate the coordination skills of the children with Down's syndrome. The first aim of this study was to determine the effect of a specially designed water activity intervention programme on the motor proficiency levels of children with Down's syndrome. Six children classified as having Down's syndrome, formed part of the research group. Their chronological age ranged between 9 and 14 years while their mental age classification was that of a 4 to 5 year old. The data was analysed by means Summary of descriptive statistics, and effect sizes were determined. The second aim of the study was to determine the effect of a water activity intervention programme on the motor proficiency levels of children with Fetal Alcohol Syndrome. Six children participated in the programme. Their chronological age ranged between 7 and 17 years while their mental age classification was that of a 4 to 11 year old. Reporting the results were in the form of case studies, and effect sizes of differences were determined. With regard to the first aim of the study the results indicated that the motor proficiency levels of the experimental group with Down's syndrome improved, especially regarding the MABC-total, balance- and total body coordination skills. With reference to the second aim of the study, the results indicated that improvement in the motor proficiency levels of the children with Fetal Alcohol Syndrome had a lasting effect. The MABC total, ball skills and manual dexterity were the components that showed the best improvement. It can be concluded that a water activity intervention programme is a suitable method for rectifying motor deficiencies among children with Down's syndrome and Fetal Alcohol Syndrome. Recommendations for the improvement of the water activity programme were presented, as well as suggestions for further studies. / Thesis (M.A. (Human Movement Science))--North-West University, Potchefstroom Campus, 2004.

The first part of the thesis describes a systematic function analysis that identified in vitro E2 partners for ten different HECT E3 ligase proteins. Using mass spectrometry, the linkage composition for the resulting autoubiquitylation products of a number of functional E2-HECT pairs was determined. HECT domains from different subfamilies catalyze the formation of very different types of Ub chains, largely independent of the E2 in the reaction. The second part of the thesis describes the characterization of the RAD6-interactome. Using affinity purification coupled with mass spectrometry, I identified a novel RAD6-interacting E3 ligase, KCMF1, which binds to a different surface on RAD6 than the other RAD6-associated E3 ligases. KCMF1 also recruits additional proteins to RAD6, and this new complex points to novel RAD6 functions. Interestingly, the RAD6A R11Q mutant polypeptide, found in X-linked mental retardation patients specifically loses the interaction with KCMF1, but not with other RAD6-associated E3 ligases.

The first part of the thesis describes a systematic function analysis that identified in vitro E2 partners for ten different HECT E3 ligase proteins. Using mass spectrometry, the linkage composition for the resulting autoubiquitylation products of a number of functional E2-HECT pairs was determined. HECT domains from different subfamilies catalyze the formation of very different types of Ub chains, largely independent of the E2 in the reaction. The second part of the thesis describes the characterization of the RAD6-interactome. Using affinity purification coupled with mass spectrometry, I identified a novel RAD6-interacting E3 ligase, KCMF1, which binds to a different surface on RAD6 than the other RAD6-associated E3 ligases. KCMF1 also recruits additional proteins to RAD6, and this new complex points to novel RAD6 functions. Interestingly, the RAD6A R11Q mutant polypeptide, found in X-linked mental retardation patients specifically loses the interaction with KCMF1, but not with other RAD6-associated E3 ligases.

Training programs designed to remediate eating deficits of higher level patients have involved some combination of verbal instructions, manual guidance, modeling, and reinforcement. Training methods which incorporate relaxation and imagery to facilitate behavior change have received little attention with this population. The current study was designed to explore the use of relaxation and suggestions as a training strategy to modify the shoveling behavior of moderately and mildly retarded institutionalized clients. Three treatment methods, relaxation-suggestion with reinforcement, modeling-instruction with reinforcement, and relaxation-suggestion alone, were compared. A greater reduction in shoveling behavior was hypothesized for the modeling-instruction with reinforcement group than for either of the relaxation-suggestion groups, and a greater reduction in shoveling behavior was hypothesized for the relaxation suggestion with reinforcement group than for the relaxation-suggestion alone group.

This thesis compares criminal defences of insanity and idiocy between 1660 and 1830 in northern England and southern Scotland, regions which have been neglected by the historiographies of British crime and "insanity defences". It is explained how and why English and Scottish theoretical principles differed or converged. In practice, however, courtroom participants could obtain to alternative conceptions of accountability and mental distraction. Quantitative and qualitative analyses are employed to reveal contemporary conceptions of mental afflictions and criminal responsibility, which provide inverse reflections of "normal" behaviour, speech and appearance. It is argued that the judiciary did not dictate the evaluation of prisoners' mental capacities at the circuit courts, as some historians have contended. Legal processes were determined by subtle, yet complex, interactions between "decision-makers". Jurors could reach conclusions independent from judicial coercion. Before 1830, verdicts of insanity could represent discord between bench and jury, rather than the concord emphasised by some scholars. The activities of counsel, testifiers and prisoners also impinged upon the assessment of a prisoner's mental condition and restricted the bench's dominance. Despite important evidentiary evolutions, the courtroom authentication of insanity and idiocy was not dominated by Britain's evolving medical professions (including "psychiatrists") before 1830. Lay, communal understandings of mental afflictions and criminal responsibility continued to inform and underpin the assessment of a prisoner's mental condition. Such decisions were affected by social dynamics, such as the social and economic status, gender, age and legal experience of key courtroom participants. Verdicts of insanity and the development of Britain's legal practices could both be shaped by micro- and macro-political considerations. This thesis opens new avenues of research for British "insanity defences", whilst offering comparisons to contemporary Continental legal procedures.