978 resultados para Down-Syndrome


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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

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INTRODUÇÃO: Diversos estudos disponibilizam evidências sobre características do desempenho motor e cognitivo de indivíduos com Síndrome de Down (SD), porém poucos estudos analisam a força muscular nestes indivíduos. As alterações apresentadas por indivíduos com SD podem manifestar-se funcionalmente e interferir na sua capacidade de desempenhar de forma independente diversas atividades e tarefas da rotina diária. OBJETIVO: O presente estudo teve como objetivo analisar a influência da textura do objeto na força de preensão palmar em indivíduos com Síndrome de Down. Participaram do estudo dez indivíduos com SD, com idade entre 4 e 30 anos. MÉTODO: A análise da força de preensão palmar foi mensurada por meio de um transdutor de força. A tarefa proposta para a coleta dos dados foi realizar a preensão do transdutor, revestido com diferentes texturas, transportá-lo até um ponto previamente demarcado, e posteriormente o retorno à posição inicial. Os dados obtidos foram analisados por meio de estatística descritiva e não-paramétrica. RESULTADOS: Os dados da estatística descritiva permitiram observar que a textura áspera foi a que exigiu menor força de preensão palmar dos participantes neste estudo, no entanto a análise não-paramétrica indicou não haver diferença estatisticamente significativa. CONCLUSÃO: Os resultados deste estudo indicam que textura do objeto não influenciou a força de preensão palmar executada pelos indivíduos com Síndrome de Down.

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Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis.

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This is a case report of a patient with Down's syndrome with an important mechanical ectropion and elongation of the lower lid related to chronic allergic conjunctivitis, besides cataract and keratoconus. The tarsal strip technique and ressection of redundant and thick conjunctiva was the surgical approach chosen for this case. Functional and cosmetic outcomes were considered satisfactory.

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Pós-graduação em Educação Escolar - FCLAR

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Pós-graduação em Pediatria - FMB