923 resultados para DOWN-SYNDROME


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Esta tese analisa a concepção de uma professora sobre o processo ensino-aprendizagem de uma criança com Síndrome de Down incluída em uma classe comum de Educação Infantil. Também foi objeto de estudo a busca, junto à referida professora, de procedimentos favoráveis ao desenvolvimento social, afetivo e cognitivo da aluna. Trata-se de uma pesquisa qualitativa, combinando um estudo de caso de cunho etnográfico com uma pesquisa-ação. Como procedimentos de coletas de dados foram utilizadas entrevistas abertas e semiestruturadas, observação participante e a autoscopia. A análise dos dados foi feita com base na análise de conteúdo, conforme proposta por Bardin (1977). Os dados obtidos, que vêm ao encontro com outros estudos, mostraram as dificuldades de implementação das políticas públicas de inclusão no âmbito do sistema educacional, em geral, e especificamente no caso da escola foco. O processo de inclusão torna-se complexo em virtude de variáveis como: despreparo dos professores em lidar com alunos com deficiência, ausência de conhecimento por parte de professores sobre flexibilização de estratégias de ensino aprendizagem e de organização escolar que não levam em conta a diversidade do alunado. Vimos que a presença da aluna na classe não garantia sua participação nas atividades e que seu processo de escolarização era dificultado pela falta de conhecimentos da professora sobre o desenvolvimento de sujeitos com deficiência intelectual e práticas pedagógicas alternativas. A partir da pesquisa-ação, constatamos mudanças positivas por parte da menina com relação ao desenvolvimento social e afetivo e que a professora, mesmo diante de limitações pedagógicas, contribuiu para esses avanços. Os dados revelaram que os conhecimentos pedagógicos que a professora demonstrava ter, com base nas atividades propostas para os alunos, estavam baseados no ensino tradicional, com uma concepção de educação infantil voltada para a prontidão para a alfabetização, evidenciando uma dificuldade em desenvolver o trabalho pedagógico numa perspectiva sócio-histórica.

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Relatório Final de Estágio apresentado à Escola Superior de Dança, com vista à obtenção do grau de Mestre em Ensino de Dança.

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Objetivo: determinar la frecuencia de las diferentes alteraciones respiratorias durante el sueño (ARS) e hipertensión pulmonar (HTP) y establecer la saturación de oxígeno (SpO2) en vigilia, sueño y durante los eventos en niños con Síndrome Down (SD) a la altura de Bogotá (2640m) de acuerdo a grupos de edad e IMC. Métodos: estudio descriptivo de corte transversal, se incluyeron todos los niños con SD con sospecha de ARS remitidos a polisonograma (PSG) de octubre de 2011 a enero de 2013 a la Fundación Neumológica Colombina (FNC). Se dividieron en 3 grupos: apnea obstructiva, apnea obstructiva y central, sin apneas. Resultados: 74 niños, el 36,5% mujeres, edad media 4 años. 47,3% presento apnea obstructiva, más frecuente en >2 años, 35,1% apnea obstructiva y central, más frecuente en < 2 años y 17,6 % sin apnea. SpO2 promedio en apnea obstructiva 84,63%, apnea obstructiva y central: 81,8% y sin apnea: 86,85% (p 0,058). 23% presento obesidad, 16% con apnea obstructiva. 53 pacientes tenían ecocardiograma: 28% HTP, 53,3% tuvo apnea obstructiva y 26,7 apnea obstructiva y central, no diferencias significativas. SpO2 promedio en HTP 88,3% vigilia, 86,2% sueño REM, 85,7 % sueño no REM, no diferencia significativa comparada con pacientes sin HTP. Conclusiones: Las ARS son frecuentes en los niños con SD, La desaturación está presente en los niños con SD independiente del tipo de apnea. A todos los niños SD se les debe practicar un PSG en el primer año de vida.

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Las cardiopatías son el principal defecto congénito asociado al Síndrome de Down (SD), y su detección e intervención oportuna contribuye a reducir la morbimortalidad. El objetivo del presente estudio fue caracterizar las malformaciones cardiacas congénitas de la población pediátrica con SD que asiste a un centro de atención especializado en la ciudad de Bogotá (Colombia). Materiales y métodos: Se realizó un estudio descriptivo transversal con registros clínicos de pacientes con diagnostico cariotípico de SD, evaluando las cardiopatías congénitas documentadas en las valoraciones pediátricas institucionales; se estudió su posible relación con determinados factores como la edad de los padres y el género del hijo. Resultados: Se revisaron 157 historias clínicas que cumplieron con los criterios de calidad para estudio. El 57,2% eran hombres y el 42,8% mujeres. El cariotipo del 91,7% fue trisomía libre, 3.8% mosaicismos y un caso de translocación. El diagnóstico prenatal se realizó en el 12,1% de los evaluados. Se observó algún defecto cardiaco congénito en el 65,8% de los pacientes (n=103). Se identificaron defectos aislados en 53 pacientes (33,7%), siendo el ductus arterioso persistente el más frecuente con un 26,2%. El defecto múltiple más recurrente fue la comunicación interauricular asociada a comunicación interventricular con un 18,4%. No se identificó relación entre los factores de riesgo estudiados y algún tipo de cardiopatía. Conclusiones: Se identificó una prevalencia de cardiopatías congénitas similar a la reportada por la literatura, sin embargo se documentaron diferencias en cuanto a la frecuencia y tipos de defectos únicos y múltiples descritos en otros estudios. Palabras Clave: Síndrome Down, Cardiopatías congénitas, Colombia.

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El síndrome Down (SD) es la trisomía más común en humanos, presentándose en 1 de cada 745 nacidos vivos y es la causa más frecuente de retardo mental. El origen más observado de la trisomíaes una no disyunción meiótica (95%), la cual generalmente es de origen materno, mientras un 5% se debe a errores post-cigóticos mitóticos. Objetivo: identificar el origen parental delcromosoma 21 extra, el momento del error no disyuncional y establecer una correlación entre estos eventos y las manifestaciones fenotípicas de los pacientes afectados. Materiales y métodos: se estudiaron cincuenta familias con un hijo con SD mediante el uso de cinco short tandem repeats (STR) a lo largo de 21q, se construyeron los haplotipos de cada paciente y sus padres, determinandoel origen parental y el momento en que surgió el error no disyuncional. Resultados:en 80% de las familias el error fue en meiosis I y 20% en la meiosis II; 98% de los cromosomasadicionales fue de origen materno y 2% paterno. Se encontró correlación genotipo-fenotipo en ocho características estudiadas: cuello corto y ancho, tercera fontanela, labio inferior prominente, paladar estrecho y corto, raíz del hélix cruzando la concha, alopecia, pliegue único palmar yotras anomalías como nevus y xeroderma y eventos de recombinación en 24,5% de las familias analizadas. Conclusiones: la edad materna y la variación en el número de recombinaciones está asociada con no disyunciones meióticas I y II; se encontró correlación entre el momento del errorno disyuncional y algunas variables clínicas.

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En la port. adem??s : European Down Syndrome Association (EDSA)

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RESUMO: O presente projecto surge como trabalho final de Mestrado em “Educação Especial: Domínio Cognitivo e Motor”, relatando a concepção, realização e avaliação de um Projecto de Intervenção/Acção, no qual a Expressão Musical configura a área primordial de intervenção. O trabalho intitula-se “(Com)passo a (com)passo com a Síndrome de Down”. Baseia-se num grupo de treze crianças de educação pré-escolar, no qual está incluída uma criança com Síndrome de Down. Neste contexto reflecte-se sobre essa síndrome, segundo a perspectiva de vários autores. Descrevem-se também as metodologias de investigação utilizadas para a recolha de dados, tendo por base autores de referência. Faz-se ainda a caracterização do contexto escolar onde se desenvolveu o Projecto de Intervenção/Acção e a apresentação do respectivo Plano de Acção. Relata-se a intervenção realizada, acrescida da interpretação e avaliação dos dados obtidos a partir das vinte e três sessões de actividade levadas a cabo. A análise dos resultados permitiu inferir que as sessões de Expressão Musical se revestiram de um carácter bastante positivo, dado que se constataram mudanças consideráveis no comportamento das crianças e do grupo. Tais mudanças tornaram-se mais evidentes na área da socialização, traduzidas num maior envolvimento das crianças dentro do grupo, que provocou um maior entusiasmo e interesse em participar nas actividades propostas. ABSTRACT: The present draft appears as Masters final work in “Special Education: Cognitive and Motor Domains”, reporting the idea, implementation and evaluation of an Intervention / Action Project, in which the Musical Expression configures the primary area of intervention. The work is entitled “(Com)passo a (com)passo com a Síndrome de Down”, based on a group of thirteen children of preschool, in which is included in a child with Down Syndrome. In this context this work reflects upon this syndrome from several authors‟ perspective. It also describes the research methodologies used for data collection having for base reference authors. It‟s done, also, the characterization of the school environment where the Intervention/ Action Project and the presentation of its Action Plan were developed. It is reported the intervention, together with the interpretation and evaluation of data obtained from the twenty-three sessions of activity carried out. The results allowed inferring that Musical Expression sessions assumed a very positive character, given that significant changes were observed in the behavior of the studied children and the rest of the group. These changes became more evident in the socialization area, translated into a greater involvement of children within the group, which led to a greater enthusiasm and interest in participating in the proposed activities.

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The comparison of cognitive and linguistic skills in individuals with developmental disorders is fraught with methodological and psychometric difficulties. In this paper, we illustrate some of these issues by comparing the receptive vocabulary knowledge and non-verbal reasoning abilities of 41 children with Williams syndrome, a genetic disorder in which language abilities are often claimed to be relatively strong. Data from this group were compared with data from typically developing children, children with Down syndrome, and children with non-specific learning difficulties using a number of approaches including comparison of age-equivalent scores, matching, analysis of covariance, and regression-based standardization. Across these analyses children with Williams syndrome consistently demonstrated relatively good receptive vocabulary knowledge, although this effect appeared strongest in the oldest children.

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This work makes a documental analise about the relationship between families of Down syndrome students and professionals of who teach them, in order to improve the process of developing teaching-learning, in an inclusive perspective. For this, we use a qualitative approach, because we believe that the object of research is not a passive and neutral knowledge, since it has meanings and relationships whose can be better interpreted and understood by the researcher in a real and active situation. For the development of this research, a bibliographical review was made about the subject, and a case studied in two regular education schools, both of them at the city of Natal/RN, one public and another one particular. We work on these educational institutions with professionals and parents of Down syndrome students. As an instrument of building information we used a semi-structured interview and to analise the results a qualitative method. Crossing the stages, we noticed: the pedagogical coordinators who made up both analyzed schools showed interest about doing an effective work with parents, regardless of Educational Policy Project of each school, predict or not the participation on educational undertaken process; On teachers discourses, reporting the relationship with the family, we realize that one of those teachers try to keep a good relationship with parents, permeated by learning exchanges, guidance and knowledge, in relation to another one, even existing an apparent openness to dialogue, when parents have any suggestions or criticism, that attitude is not always well coming. From the parents interviews, we can emphasize, first of all, that both of them recognize the benefits of inclusion, with regard to socialization - in general from the coexistence with pairs and the process of teaching and learning, as shown in a consistent way. Regarding school meetings with teachers, the studied parents agree about importance of such appointments and try to attend them, besides the other events organized by the school, beyond keeping individual touch with the teacher, when necessary. They are always present, looking for get envolved in everything that happens at school, in order to know better what is being done, listening and may suggest alternatives to improving the educational process. We perceive, from the study undertaken, that although the school inclusion is not an easy process to be built, is something that could be achieved. For this, is necessary that professionals of education and families recognize their functions in the educational process and act jointly on this direction

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The school inclusion is based on respect for diversity and the belief that everyone has the capacity to learn and develop, for this the school needs to prepare itself to meet the differences and provide a meaningful learning for everyone, including those with Down syndrome. It is in the interaction with others that children develop their skills and exchange substantial experiences to learn the school and non school knowledge. Among the knowledge the school must offer students, there is one that is indispensable to the present society; the writing, because writing is a way to Interact, to communicate and to build autonomy to relate in society. Before exposed, the research that started this study aimed to investigate the level of the writing conceptualization of children with Down syndrome during the literacy process in a regular school of the private school network in the city of Natal/RN. For carrying out this study, initially we conducted a qualitative research, using the bibliographical as a methodological recourse, seeking to the deepening of information, based on the literature about the subject, which allowed us to collect data about people with Down syndrome, their education and the process of the writing acquisition. Later, a case study was performed, involving free observation in the room and interviews with teachers and children, trying to verify how this writing acquisition process occurs by children with Down syndrome. The data analyzed and information recorded demonstrated that the school inclusion, when taken seriously, benefits the learning of writing for children who have intellectual deficit, and, mainly, they develop in this environment and are able to learn to write, as long as their own pace are respected

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Background: Down syndrome (DS) is a genetic alteration characterized by being a nonprogressive congenital encephalopathy. Children with DS have hypotonia and developmental delays that interfere in the movement`s acquisition for these children. Objective: Analyze the effects of treadmill inclination on angle and spatiotemporal gait characteristics of these individuals. Methodology: We studied 23 subjects of both sexes, with ages ranged between 05 and 11 years, they presented ability to walk on level 5 classified according to the Functional Ambulation Category (FAC). Initially held a subjective evaluation of balance through a questionnaire (Berg Balance Scale-BBS) then the kinematic gait analysis was realized on a treadmill first, without inclination and then, with inclination of 10%, using the motion system analysis Qualisys System. Data analysis was done using BioStat 5.0 attributing significance level of 5%. Normality of data was verified using D'Agostino test and later was applied paired t-test to compare data in two experimental conditions. Results: There was a statistically significant difference in the spatiotemporal variables: reduction in the cadence (from 108.92 ± 39.07 to 99.11 ± 27.51, p <0.04), increase in cycle time (from 1.24 ± 0.27 to 1.36 ± 0.34, p = 0.03 ) and increase in time to take stock (from 0.77 ± 0.15 to 0.82 ± 0.18, p <0.001). Angular variables that showed statistically significant increasing were: the hip in the initial contact (12.23 ± 4.63 to 18.49 ± 5.17, p <0.0001) and max. flexion in balance (12.96±4:32 to 19.50 ± 4.51, p <0.0001 ), knee in the initial contact (15.59 to ± 6.71 to 21.63 ± 6.48, p <0.0001), the ankle in the initial contact (-2.79 ± 9.8 to 2.25 ± 8.79, p <0.0001), max dorsiflexion in stance (4.41 ± 10.07 to 7.13 ± 11.58, p <0.0009), maximum plantar flexion in the pre-assessment of the ankle joint (increase of -6.33 ± 8.77 to -2.69 ± 8.62, p <0.0004).Conclusions: The inclination acts in a positive way for angular and spatiotemporal features gait of children with Down syndrome, demonstrating possible benefit of using this surface in the gait rehabilitation of children with Down Syndrome

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Down syndrome (DS) is one of the most frequent causes of intellectual disability, affecting one in every 600 to 1000 live births. Studies have demonstrated that people with DS have a lower capacity for short-term memory (STM) and working memory (WM), which affects their capability to learn new words and to follow spoken instructions, specially when they involve multiple information or consecutive orders/orientations. It seems that the basis of the learning process, as it happens with language and mathematics comprehension and reasoning, relies in the STM and WM systems. Individuals with DS are increasingly included in mainstream education, and yet, very few researches have been conducted to investigate the influence of memory development and the type of enrollment (regular school and special school). This study investigated the relationship between the type of school enrollment with the performance on STM tests and also, the relationship of this performance with early stimulation (ES). The tests used in the first research were the digit span, free recall, word recognition and subtests of the Wechsler Intelligence Scale for Children Third Edition (WISC-III). Individuals enrolled in the regular schools group had higher scores on the digit span test and the subtests of the WISC-III. In the free recall and recognition tests, no differences were found. This study indicates that the type of enrollment might influence the memory development of individuals with DS and clearly points the need for future investigations. In the second research, the tests used were the digit span, free word recall and subtests of the WISC-III. The test results showed better performance by adults that received ES before six months of age. The studies showed improvement in STM both in people who attended or were attending regular school, as well as those who benefited from ES before six months of age. However, some issues still need to be better understood. What is the relation between this stimulation with the individual s education? Since ES may reflect a greater family involvement with the individual, what is the role of emotional components derived from this involvement in the cognitive improvement? These and other questions are part of the continuity of this study

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This work presents the processes and the results of a research concerning the affectivity in children suffering from the Down´s Syndrome (DS). The relevance of the study is justified due to the need of the development of researches, in the area of psychological evaluation of people who suffers from Down´s Syndrome (DS), that are backed by the use of appropriate instruments for such purpose. The thematic discussed focuses the characteristics of the affectivity of children suffering from Down´s Syndrome. Affectivity, conceptually, is considered a wide phenomenon, including several aspects such as emotions, passions, anxiety, anguish, sadness, happiness and even the pleasure sensations and pain. The general objective of the study consisted of investigating the manifestation of the affectivity in children and young with Down´s Syndrome and the parents´ and educators´ perception concerning the expression of the affectivity in the behavior and in the social activities. The specific objectives were: to identify the parents' perceptions about the several manifestations of indicative behaviors of affectivity; to verify in the social atmosphere, outside home, through the teachers' perception, the several forms and intensities of the expression of the affectivity; and, to make possible the use of the technique of Zulliger (Z-test) in people with Down´s Syndrome. 70 (seventy) children and young with Down´s Syndrome participated in the research, in the age group from 04 to 26 years old, which are attended by Institutions of Paraíba and of Rio Grande do Norte. The instruments used were two questionnaires, applied with the parents and teachers, and the projective technique, Z-test, applied, individually, with the children and young with Down´s Syndrome. For analysis of the data of the questionnaires, the program Trideux-Mots was used, with the intention of selecting the main outstanding words for the parents and teachers concerning the expression of the children's affectivity and young with Down´s Syndrome. For so much, it was organized a database that was processed by that program and, soon after, interpreted through the Factorial Analysis by Correspondence (AFC), looking for to clear the modalities of presented answers in an organized way, through a graph. The data of the Z-test were analyzed, taking in consideration the need to characterize the aspects of the affectivity and the elaboration of specific norms for this sample type, through normalized scores. In agreement with the data presented by Tri-deux-Mots, it was observed that in the affective behavior and in the relationship with the other, home and in the school, the children and young with Down´s Syndrome they express your affectivity through positive and negative characteristics, in the same way that any other child that doesn't have to syndrome. The Z-test made possible initial elements to work with that population, however it is necessary that grow other researches with the intention of investigating the reason of the answers they present not the specific categories that you/they are related to the affectivity, since it was well-known the diversity of affective characteristics presented by the researched group

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This research aimed to contribute to the characterization of a neuropsychological phenotype of adolescents with Down Syndrome (DS). A multicases study of six adolescents (three males and three females, aged 13 to 14 years) diagnosed with DS and treated at two institutions in the city of Natal (Brazil), was conducted. Participants were assessed using the methodological approach developed by Luria, which is composed by four complementary stages. The first one aimed to investigate the qualitative impact of DS in school life and social development of the adolescents; dimensions of behavior and social-affective aspects of the members of the study were investigated. In the second stage participants performed a battery of neuropsychological tests in order to identify strengths and weaknesses in their cognitive functioning. The third stage was incorporated into the second in order to analyze the quality of the activity of the participants along the quantitative evaluation, highlighting strategies used, errors produced among other indicators. Lastly, the fourth stage refers to the intervention with the participants. Although this is not a specific objective of the study, it is argued that the outcome of this research will subsidize the practice of different professionals working with this clinical group. The results of the first stage emphasized the presence of difficulties in social relationships and in school life of observed adolescents. In turn, the second and third stages pointed out to the presence of difficulties in tasks involving logical and abstract thinking, as well as difficulties in expressive language. In relation to visual memory, we observed a better performance in activities of lower complexity, ie, with less interference of executive functioning, particularly in terms of the functions of planning and initiative. Finally, it was found motor and mental retardation, affecting significantly the performance related to different cognitive areas. The results highlighted here can be considered as subsidies for future interventions, suggesting the need for developping projects that take into account different aspects constituents of the human subject, involving not only the individual with developmental changes, as well as their families, teachers, schools and society in general