Introdução: A síndrome de Down (SD) é a alteração cromossômica mais comum entre os humanos. O desenvolvimento funcional da criança com a síndrome é prejudicado pelas alterações neuromotoras, musculoesqueléticas, cardiológicas entre outras que a caracterizam. Objetivos: Comparar o desempenho funcional de crianças com SD com o de crianças com desenvolvimento típico (DT) dos dois aos sete anos de idade, provenientes da cidade de Porto Alegre e região metropolitana. Verificar a influência de características familiares e de patologias no desenvolvimento funcional das crianças e seus maiores déficits. Métodos: Estudo observacional com delineamento transversal, com amostragem por conveniência. Utilizou-se o Inventário de Avaliação Pediátrica de Incapacidade (PEDI) para comparar o desenvolvimento funcional dos dois grupos de crianças. Os grupos também foram comparados por faixas etárias de um ano e seis meses. Foi utilizado um questionário para verificar as características familiares e patologias associadas às crianças. Resultados: Participaram 95 crianças, sendo 49 com SD e 46 com DT. Os dois grupos apresentaram diferença estatística em todas as áreas do PEDI analisadas quando comparados em conjunto ou por faixas etárias. As crianças com SD tiveram os escores abaixo do esperado em todas as áreas do PEDI, exceto quanto à assistência do cuidador nas áreas de mobilidade e função social. As características familiares que influenciaram no desenvolvimento funcional foram: profissão da mãe fora do lar, grau de instrução do pai e a frequência na escola. A presença de patologias associadas à síndrome não influenciou o desempenho funcional na SD. Discussão/conclusão: Tanto as crianças com SD como as com DT tiveram dificuldades funcionais, porém nas com SD elas apresentaram-se em atividades menos complexas. As limitações cognitivas nas crianças com SD pode ter influenciado no desenvolvimento funcional. A profissão da mãe fora do lar e frequência na escola podem ter sido favoráveis devido à convivência com outras pessoas e crianças. Provavelmente, com o avanço das cirurgias cardíacas e demais tratamentos, as patologias associadas não influenciaram o desenvolvimento das crianças com SD. Foi verificado nesse estudo que as crianças com SD apresentaram desenvolvimento funcional abaixo do esperado em todas as áreas do PEDI. Quando comparados os dois grupos e subgrupos por faixa etária, crianças com SD e com DT, observou-se que as diferenças mantiveram-se mesmo nas faixas etárias superiores. Não temos como prever o desenvolvimento de uma criança com SD, porém podemos investir na sua independência e qualidade de vida. / Introduction: Down syndrome (DS) is the most common chromosome abnormalities among humans. The functional development of the child with the syndrome is impaired by neuromotor, musculoskeletal, cardiac abnormalities that characterize among others. Objectives: To compare the functional performance of Down syndrome (DS) children with that of children with typical development (TD) from two to seven years of age, from the city of Porto Alegre and its metropolitan area. To investigate the influence of family characteristics and pathologies in the functional development of children and their larger deficits. Methods: Observational study with cross-sectional design with convenience sampling. We used the Pediatric Evaluation of Disability Inventory (PEDI) to compare the functional development of the two groups of children. The groups were also compared by age, using age ranges of one year and six months. A questionnaire was used to assess family characteristics and pathologies associated with children. Results: Participants were 95 children, 49 with DS and 46 with TD. The two groups displayed statistical differences in all areas of the PEDI analyzed, when compared together and also in comparisons involving age groups. Children with DS had scores lower than controls in all areas of the PEDI, except for caregiver assistance in the areas of mobility and social function. Family characteristics that influence the functional development were: mother's profession outside the home, level of parent education and school attendance. The presence of pathologies associated with the syndrome did not influence the functional performance in SD. Discussion/conclusion: Both the children with DS and those with TD had functional difficulties; however, for those with DS, the difficulties appeared in less complex activities. Cognitive limitations in the children with DS may have had an influence on the functional development. The profession of the mother outside the home and school attendance may have been favorable due to interaction with other people and children. Probably, with the advancement of cardiac surgery and other treatments associated pathologies did not influence children's development. It was found in this study that children with DS showed lower than expected functional development in all areas of the PEDI. When comparing the two groups and subgroups by age, children with DS and DT, it was observed that the differences remained even in old age. We cannot predict the development of children with DS; however, we can invest in their independence and quality of life.

Abstract Care for Individuals with Down Syndrome in the Central Bohemia Region This Diploma Thesis deals with the comparison of the used methods and the results in caring for children and adults diagnosed with Down syndrome in home environment and institutional conditions. A qualitative research was realized using the method of case studies in order to answer the research questions. Data collection was conducted by means of semi-structured interviews and data analysis. The research in families showed that an acceptance of a child with Down syndrome was influenced by several factors. The families were given professional support in many ways and the children were being educated. None of the adults with Down syndrome in the research sample was working in the open labour market, however, they all conducted meaningful activities adequate to their age. In most cases, the parents did not encourage their grown-up children with Down syndrome to become independent. The results of the second part of the research map the situation in institutional facilities. In the past individuals with Down syndrome used to be freed from compulsory school attendance in childhood, whereas at present, children with Down syndrome are being educated in these institutions. Various therapeutic activities are offered for adults, often merely as a means of passing leisure time, rather than as a form of activity appropriate for adults. Persons with Down syndrome do not have many opportunities for the integration into the majority society. For persons with Down syndrome, who are living in an institution, a contact with their family is very important and motivating. The study can be beneficial for parents of a child with Down syndrome. Furthermore it offers suggestions how to improve the support for the families, where a child with Down syndrome is raised, as well as suggestions for improving the quality of the institutional care.

Made available in DSpace on 2014-06-11T19:24:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-05-09Bitstream added on 2014-06-13T19:11:48Z : No. of bitstreams: 1 lopes_ia_me_mar.pdf: 636418 bytes, checksum: 7894806f3526080158063174860e2834 (MD5) / Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / Unidade Ffc / Ao observamos, em escolas de Educação Infantil, crianças pequenas com síndrome de Down sem vivenciar a linguagem escrita, buscamos e não localizamos pesquisas que respondam a dúvidas sobre os sentidos que a criança pequena com síndrome de Down pode atribuir a essa linguagem, no contexto da Educação Infantil. Por compreendermos, a partir dos estudos emanados da Teoria Histórico-Cultural, que a criança pequena precisa vivenciar a escrita como uma necessidade, para percorrer o seu processo histórico de aquisição dessa linguagem, desenvolvemos uma pesquisa com o objetivo de descrever e compreender os sentidos atribuídos à escrita por uma criança pequena com síndrome de Down, bem como caracterizar a atuação pedagógica empregada em propostas de vivências dessa linguagem. Para tanto, em Atendimento Pedagógico de Suporte, a pesquisadora buscou promover tais vivências a uma criança pequena com síndrome de Down. Esses atendimentos foram filmados, e posteriormente, transcritos, por meio dos quais foram focalizados os sentidos relacionados à significação da escrita na atuação pedagógica. Os resultados da pesquisa apontam que a criança participante da pesquisa foi capaz de atribuir sentidos à escrita a partir dos modos como a vivenciou, o que decorreu de aspectos circunscritos aos Atendimentos Pedagógicos e também de questões macrossociais. / By observing, in Child Education schools, small children with Down syndrome living without written language, it was searched (but not found) for research that answer questions about the meanings that small children with Down syndrome can attribute to this language, in the context of Child Education. From studies based on the Historical-Cultural Theory, it is understood that small children need to experience writing as a necessity, to go through the historical processes of this language acquisition; therefore, it was conducted a survey aimed at describing and understanding the meanings attributed to writing by a small child with Down syndrome and also at characterizing the pedagogical performance in proposals of experiencing this language. To do so, in Educational Support Services, the researcher sought to promote such experiences to a small child with Down syndrome. These appointments were videotaped and later transcribed; by using them it was focused the meanings related to the writing signification in educational performance. The survey results indicate that the child taking part in the research was able to confer meaning to writing based on the experienced modes, which happened from aspects circumscribed to Pedagogical Appointments as well as macro-social issues.

Made available in DSpace on 2014-06-11T19:35:10Z (GMT). No. of bitstreams: 0 Previous issue date: 2006-07-07Bitstream added on 2014-06-13T20:06:39Z : No. of bitstreams: 1 dotto_pp_dr_sjc.pdf: 4285690 bytes, checksum: ecfd6441fbc5f11ca356a3ef11cb7bfc (MD5) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / O propósito no presente estudo foi verificar a existência da proporção áurea entre algumas medidas cefalométricas laterais de indivíduos com síndrome de Down (SD), bem como, observar se houve variações nas razões avaliadas em diferentes períodos de crescimento de acordo com a curva de crescimento puberal (CCP), e entre os sexos. Para tanto, foram analisadas 52 radiografias cefalométricas laterais e 52 radiografias de mão e punho de indivíduos com SD entre seis e 33 anos de idade. A divisão da amostra foi realizada no programa Curva de Crescimento 1.0 (Radiomemory®). Foram selecionados 16 segmentos craniofaciais, gerando 17 razões. As medidas foram calculadas no programa Radiocef 4.0 (Radiomemory®). O erro intra-examinador foi verificado pelo teste de Análise de Regressão Linear (r >0,95). Os resultados obtidos foram submetidos à Análise de Regressão Linear Múltipla e teste t de Student (5%). Das 17 razões, três apresentaram tendência à proporção áurea em todas as fases tanto para o sexo masculino quanto para o feminino (SAcrS/ N-Ena; S-AcrS/Ena-Enp e N-ASPt/Sf1/-C1MS). A razão NPOMxN/ Or-POMx-Or foi áurea para os dois sexos após o período do pico do surto de crescimento puberal. Em Po-N/Co-Go e Co-Gn/N-POMxN, a tendência foi verificada para o sexo feminino em todas as fases, quanto ao sexo masculino, houve variação na ocorrência durante as fases. Para Co-Gn/Go-Pog, essa tendência foi observada para o sexo masculino no final do crescimento. A razão Co-Go/Sf1/-C1MS apresentou variações na ocorrência para ambos os sexos. O autor concluiu que indivíduos com SD apresentaram algumas medidas do crânio em proporção áurea e que para algumas razões analisadas houve variações na ocorrência com relação às fases de crescimento e diferenças entre os sexos foram observadas. / The aim of the present study was to verify the presence of the golden proportion among some lateral cephalometric measurements of individuals with Down's syndrome (DS), as well as, to observe if there were variations in the appraised ratios at different growth phases in agreement with the Puberal Growth Curve (PGC), and between genders. There were used 52 lateral cephalometric X-rays and 52 hand and wrist X-rays from individuals with DS among six and 33 years old. The sample was divided using the software Curva de Crescimento 1.0 (Radiomemory®). It was selected 16 craniofacial segments, generating 17 ratios. The measurements were calculated by Radiocef 4.0 (Radiomemory®) program. The intra-examiner error was analyzed using the Linear Regression test (r >0,95). The results were analyzed using the Multiple Linear Regression test and the t-Student test (5%). Among the 17 ratios, three presented tendency to the golden proportion in all of the phases as much for males as for females (SAcrS/ N-Ena; S-AcrS/Ena-Enp and N-ASPt/Sf1/-C1MS). The ratio NPOMxN/ Or-POMx-Or was golden for both genders after the pubertal growth spurt. For the ratios Po-N/Co-Go and Co-Gn/N-POMxN, the tendency was verified for females in all of the phases, but for males there was found variation in the occurrence during the phases. For the ratio Co- Gn/Go-Pog, that tendency was observed for males in the final phase of the growth. The ratio Co-Go/Sf1/-C1MS presented variations in the occurrence for both genders. Author concluded that individuals with DS presented some measurements of the skull in golden proportion and variations was found for some analyzed ratios in occurrence regarding the growth phases and differences between genders.

Este estudo teve como objetivo descrever o processo de construção do discurso narrativo em crianças com Síndrome de Down, demonstrando as características existentes na narrativa relacionando a perspectiva estrutural de Labov (1972) e interacional de Perroni(1992), compreendendo, assim, os processos que subjazem à capacidade de narrar dos sujeitos com Síndrome de Down e as semelhanças e diferenças existentes entre relatos pessoais e histórias. Participaram deste estudo três crianças entre 8 e 12 anos de idade com Síndrome de Down, alunos da Escola Especial Ulisses Pernambucano, local da coleta dos dados. Os dados foram transversais, durante o semestre escolar, através de registros quinzenais de vídeo. Observou-se a construção das narrativas de crianças com Síndrome de Down nas situações interativas em sala de aula de recontagem de história e relato de experiência pessoal. Os resultados mostram que a perspectiva estrutural não dá conta do processo construtivo evidenciado nos dados analisados; já uma perspectiva interacionista permite compreender a riqueza dos processos envolvidos na construção das narrativas pelas crianças ao longo do tempo / This study aimed to describe the process of construction of narrative speech in children with Downs Syndrome, by showing the existing characteristics in narrative, relating Labovs structural perspective (1972) to perronis interactional pespective (1992), comprehending, this way, the processes that compox the ability of speech of people with Downs Syndrome and the similarities and differences that exist between personal reports and stories. Students with Downs Syndrome, aging between 8-12 years old and enrolled at Ulisses Pernambucano Special School, where data was collected. This data was transversal, throughout school semester,and collected by video recordings twice a month. The narrative construction of these children was observed in interactive situations in storytelling and self-reporting classrooms. The results show that the structural perspective is not enough for the constructive process found at the analyzed data; however, an interactional perspective allows to understand the richness of the involved processes in the narrative constructions by these children on and on

O objetivo do presente estudo foi investigar, através de uma abordagem qualitativa, o envolvimento paterno e a experiência da paternidade no contexto da Síndrome de Down (SD). Mais especificamente, procurou-se compreender o impacto que a SD exerce sobre este envolvimento e experiência. Para tanto, foram entrevistados seis pais de crianças com SD, cujos filhos tinham idades entre 9 meses e 3 anos e 3 meses. Os resultados revelaram que os pais participavam ativamente das atividades e cuidados relativos aos filhos, sendo responsáveis por diversas tarefas concernentes a eles, embora o tempo disponível para estar com eles sofra restrições em função do trabalho. Apesar das dificuldades e preocupações que enfrentavam sobre o futuro do filho e sobre a relação com eles, os participantes avaliaram positivamente as suas experiências de paternidade. Discute-se a importância do desenvolvimento de ações que auxiliem não somente os pais, mas também as mães e o restante do sistema familiar, a lidar melhor com as particularidades advindas desta experiência, ajudando a proporcionar uma melhor qualidade de vida para estas famílias. / The aim of the present study was to investigate, through a qualitative approach, paternal involvement and paternal experience in the Down Syndrome (DS) context. More specifically, it aimed to understand the DS impact over this involvement and experience. Six parents of children with DS were interviewed, whose children were between 9 months and 3 years and 3 months. The results demonstrated that parents had been participating actively in children’s activities and caretaking, being responsible for several tasks, although the available time to be with them was restricted because of their jobs. In spite of the difficulties, the participants evaluated positively their paternal experiences. The importance of the developing policies that aid not only the fathers, but also mothers and remaining members of the family system, is discussed, with the intention of working better with the particularities of their lives, helping to provide a better life quality for these families.

The purpose of this study is to examine the effects of bilingualism in short-term memory (STM) compared to monolingualism with individuals who have Down syndrome. Five tasks were used for STM skills comparison between monolingual and bilingual participants. Sixteen participants between the ages of 13 to 37 were included in this study. Participants were divided based on their language groups. The experimental tasks consisted of non-verbal activities to examine visual (RVDLT) and spatial (Corsi) STM; as well as three verbal STM tasks (RAVLT, WMS, and Digits). The results showed that bilinguals acquired higher overall correct responses, with a significant difference found in visual STM performance and a trend towards significance in verbal logical STM. Thus, the findings of this study support the bilingual advantage theory. This study will enhance understanding in memory capacity of bilingual individuals with Down syndrome for potential implications to put into practice in clinical intervention strategies.

Down syndrome, or Trisomy 21, is the most commonly occurring genetic condition, and yet there exists a great deal of misinformation and misconception about the lived experience and value of Down syndrome in society. Its construction as a disability is deeply intertwined with racist rhetoric and, despite changes in language, this construction of Down syndrome as a racialized disability category has immense implications in clinical and prenatal genetic counseling settings. This thesis seeks to examine the past and present of Down syndrome in conversation with reproductive justice, disability justice, and the current norms of practice in genetic counseling. In doing so, this thesis makes recommendations towards a disability-centered and actively counter-eugenic genetic counseling practice.

Made available in DSpace on 2014-06-11T19:27:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2009-04-23Bitstream added on 2014-06-13T20:17:10Z : No. of bitstreams: 1 messias_lpa_me_araca.pdf: 396179 bytes, checksum: 7ab8325928adf5a9ec2e467e4b72278a (MD5) / O objetivo do presente estudo foi avaliar a ocorrência dos principais microrganismos periodontopatogênicos e dois viruses herpéticos na saliva e no biofilme microbiano supra e subgengival de 50 crianças e adolescentes com Síndrome de Down, através de métodos moleculares, comparando com um grupo de indivíduos de um grupo controle que não apresentam a síndrome. Espécimes clínicos foram coletados desses pacientes após avaliação das condições sócio-econômicas e comportamentais. A microbiota bucal dos pacientes foi caracterizada através da obtenção de amostras do biofilme subgengival, supragengival e saliva, as quais foram transportadas para o laboratório de Microbiologia e Imunologia da FOA-UNESP para detecção dos principais patógenos por PCR. As características de saúde periodontal foram avaliadas segundo índices específicos. A possibilidade de inter-relações entre os diferentes microrganismos foi determinada através dos testes de Qui-quadrado, teste exato de Fisher e Mann-Whitney. Verificou-se que as condições de saúde periodontal das crianças e adolescentes portadores de Síndrome de Down não diferia significativamente do grupo controle. A ocorrência das espécies microbianas anaeróbias e microaerófilas mais associadas ao ambiente periodontal foi semelhante nos dois grupos de crianças e adolescentes, independentemente da condição gengival, com modesto aumento na ocorrência de Prevotella intermedia e Enterobacteriaceae na saliva dos pacientes sindrômicos, o mesmo ocorrendo com Enterobacteriaceae, Campylobacter rectus, Prevotella nigrescens e gênero Pseudomonas no biofilme supragengival e P. intermedia no biofilme subgengival de pacientes sindrômicos sadios e pseudomonados naqueles com gengivite. A microbiota associada às diferentes condições periodontais nos dois grupos também evidenciou pequenas diferenças, mas confirma o papel... / This study aimed to evaluate the occurrence of the major periodontal pathogens and two herpetic viruses in saliva and dental biofilm from 50 children and adolescents with Down’s syndrome through molecular tools, comparing with those of individuals of a control group who did not present this syndrome. Clinical samples were collected from patients soon after evaluation of socioeconomic and behavioral conditions. The oral microflora was characterized by mean of samples of supragingival and subgingival biofilm and saliva, which were transferred to Microbiology and Immunology Laboratory at FOA-UNESP for detection of the major pathogens by PCR. Periodontal conditions were evaluated through specific indexes. The possibility of relationship between different microorganisms and clinical conditions were determined through Chi-Square test, Fisher’s exact test and Mann-Whitney test. It was verified that periodontal conditions of children and adolescents with Down’s syndrome did not differ significantly from the control group conditions. The occurrence of anaerobes and microaerophiles associated with periodontal environment was similar in both groups of children and adolescents, regardless of the gingival condition, with modest increase in the occurrence of Prevotella intermedia and Enterobacteriaceae in the saliva of patients syndromic patients, the same occurred with Enterobacteriaceae, Campylobacter rectus, Prevotella nigrescens and genus Pseudomonas in the supragingival biofilm and P. intermedia in subgingival biofilm of periodontally healthy patients and pseudomonads in syndromic patients with gingivitis. The microbiota associated with different periodontal conditions in both groups showed minor differences, but confirms the role of strict anaerobes in this process as well as the role of and cytomegalovirus and Epstein-Barr virus, while in syndromic patients, besides these... (Complete abstract click electronic access below)

Made available in DSpace on 2014-06-11T19:27:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2002-03-08Bitstream added on 2014-06-13T20:17:10Z : No. of bitstreams: 1 jesus_cm_me_arafo.pdf: 199618 bytes, checksum: d0ce2867f80614585999c16e15edac52 (MD5) / Por meio de exames clínicos e análises laboratoriais, o presente trabalho avaliou a prevalência de cárie dentária e a relação entre os fatores presença de cárie dental, biofilme bacteriano visível e contagem de Streptococcus grupo mutans em crianças com idade entre 12 e 48 meses, sendo 26 portadoras (grupo teste) e 142 não portadoras da síndrome de Down (grupo controle). A prevalência de cárie dentária no grupo teste foi de 15,38% e no grupo controle de 31,69%. No grupo controle houve aumento estatisticamente significativo do índice ceo-d e dos níveis de Streptococcus grupo mutans a partir dos 36 meses de idade. Nos dois grupos, com o aumento da idade, aumentou o número de crianças colonizadas por Streptococcus grupo mutans. Foi observada dependência estatisticamente significativa entre a presença de lesão cárie dentária e altos níveis de Streptococcus do grupo mutans tanto no grupo teste quanto no grupo controle. Houve também correlação positiva estatisticamente significativa entre a presença de lesão de cárie dentária e a presença de biofilme bacteriano visível, e entre a presença de biofilme bacteriano visível e altos níveis de Streptococcus do grupo mutans apenas no grupo controle. / This study evaluated the dental caries prevalence and the relationship among dental caries, visible bacterial biofilm and mutans streptococci counts in children with Down syndrome (test-group=26) and in health children (control-group=142), aged from 12 to 48 months. The caries prevalence was 15.38% in the test group and 31.69% in the control-group. The dmf-t index and the mutans streptococci levels had a significant statistic increase after 36 months of age in the control group. The number of children who harbored mutans streptococci had a significant increased with age in all children (test and control groups). In both groups dental caries and high levels of mutans streptococci presented a strong positive correlation. High positive correlation was also observed between visible bacterial biofilm and dental caries lesions and between visible bacterial biofilm and high levels of mutans streptococci in the control-group, but not in the test-group. Keywords: Down syndrome, dental caries, mutans streptococci, biofilm.