LEAL, E, N. A criança com Síndrome de Down: expectativa da mãe sobre o processo de inclusão escolar. 2006. Dissertação (mestrado) – Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 2006. É a família a principal responsável pela formação da identidade social e pessoal do indivíduo e com ela que a criança aprende que é um ser aceitável no mundo. A chegada de um bebê Down gera na família nuclear uma gama de emoções conflitantes sendo reforçada pela falta de informação sobre os cuidados primários e quanto ao seu desenvolvimento. Isso desencadeia o questionamento quanto ao futuro fazendo com que os pais, precocemente, procurem instituições para auxiliar no desenvolvimento psicomotor e cognitivo de seu filho e suprir suas aflições. Desta forma, o objetivo geral deste estudo é conhecer quais as expectativas das mães sobre a escolarização de seu filho com Síndrome de Down quando esse se encontra ainda na fase de estimulação precoce e como se realiza o processo de escolha do sistema educacional no qual ele será inserido. Participaram da pesquisa 15 mães com idade de 29 a 45 anos cujos filhos têm Síndrome de Down e estão freqüentando o serviço de estimulação precoce da Associação de Pais e Amigos dos Excepcionais de Ribeirão Preto – APAE e APAES da região. Para a coleta dos dados foi utilizado um roteiro de entrevista semi-estruturado e os dados foram analisados por sistema de categoria. Os resultados mostram que 53% das mães têm expectativa positiva em relação à escolarização de seu filho, ou seja, elas esperam que eles tenham condições de acompanhar os estudos e 46,6% delas não esperam muito quanto a escolarização de seu filho, mas ambas irão matricular seu filho numa escola de ensino regular tendo recebido ou não indicação da instituição de estimulação, pois julgam que essa inserção é necessária para o desenvolvimento geral de seu filho. Assim, concluímos que a expectativa das mães mesmo sendo alta ou baixa, não interferirá na escolha do tipo de escola que a criança freqüentará / The main responsible for the formation of the social and personal identity of the individual is the family and with it the child learns that it is an acceptable being in the world. The arrival of a Down baby generates in the nuclear family a role of conflicting emotions amplified by the lack of information on the primary cares and the development of the syndrome. This unchains the question about the future making that the parents, precociously, look for institutions to assist in the psychomotor and cognitive development of its son and to supply its afflictions. Thus, the general objective of this study is to know what are the expectations of the mothers about school life of its son with Down Syndrome while the child is still found in the phase of precocious stimulation and how undergoes the process of choice of the educational system in which the child will be inserted. Fifteen mothers took part of the research with age from 29 till 45 years whose children have Syndrome of Down and are frequenting the service of precocious stimulation at APAES of the region of Ribeirão Preto. For the collection of the data a half-structuralized script of interview was used and the data were analyzed by a category system. The results shows that 53% of the mothers have positive expectation in relation to the learning process of its son, or either, they presume that they have conditions to follow the studies and that 46,6% of them very does not wait too much about the learning process of its son, but both will register its son in a regular education school having received or not indication from the stimulation institution because they judge that this insertion is necessary for the general development of its son. Thus, we conclude that the expectation of the mothers, even being high or low, will not intervene with the choice of the type of school that the child will frequent

Orientador: José Irineu Gorla / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Educação Física / Made available in DSpace on 2018-08-19T21:32:28Z (GMT). No. of bitstreams: 1 Silva_FabiaFreireda_M.pdf: 1438692 bytes, checksum: f452509b6f1e4ead28b8803ae8a225a5 (MD5) Previous issue date: 2012 / Resumo: A Síndrome de Down (SD) é a mais prevalente anomalia genética resultante de um cromossomo extra no par 21. As pessoas com SD apresentam diversas características que acarretam alterações físicas e intelectuais, sendo responsável por 1/3 dos casos de deficiência intelectual moderada e grave. Dados epidemiológicos brasileiros revelam incidência de 1:600 nascidos vivos, variando de acordo com a idade materna e paterna. O crescimento difere-se dos outros indivíduos da população sem síndrome, pois embora se mantenha relativamente constante no início do estirão de crescimento ao atingi-lo a estatura é inferior, resultando, assim, numa estatura mais baixa. O crescimento de pessoas com SD tem sido estudado há mais de 80 anos e curvas de crescimento têm sido desenvolvidas em países como Estados Unidos, Holanda, Suécia, Reino Unido, República da Irlanda, dentre outros, sendo a curva utilizada como referência a americana desenvolvida por Cronk et al em 1988. Neste estudo observou-se que, durante a puberdade, o crescimento para o sexo feminino dos 10 aos 17 anos houve redução de 27%, já para o sexo masculino, dos 12 aos 17 anos um decréscimo de 50%. Entretanto, estas curvas são consideradas inadequadas para uso em nossa população. Este estudo teve como objetivo caracterizar os padrões de crescimento de pessoas com SD do município do Estado de São Paulo. A metodologia baseou-se em um estudo descritivo de corte transversal onde foram selecionadas escolas e instituições especializadas do município do Estado de São Paulo e realizadas coletas de dados antropométricos (estatura, massa corporal e pregas cutâneas tricepital e subescapular) de pessoas com SD do sexo feminino e masculino na faixa etária de 07 (sete) a 18 (dezoito) anos. O estudo foi dividido em quatro artigos, sendo o primeiro como proposta da revisão de literatura sobre as curvas de crescimento utilizadas nacionalmente e internacionalmente, o segundo estudo abordou a questão da obesidade entre crianças e jovens com SD, o terceiro e o quarto estudo teve como objetivo a elaboração de uma curva de crescimento em estatura e massa corporal, de 9 a 10 anos e 13 a 15 anos, respectivamente, contribuindo assim, para a elaboração de um referencial nacional. Os dados foram tabulados através do software Microsoft Excel 2007 e foi utilizado o pacote estatístico SPSS 17.0. Os dados foram analisados através da estatística descritiva (média e desvio padrão e percentis). Os resultados demonstraram que para a avaliação de crianças e adolescentes com SD quanto ao seu crescimento são recomendadas curvas próprias para um referencial da população brasileira, já que carecemos de dados específicos para a população em questão / Abstract: Down Syndrome (DS) is the most prevalent genetic anomaly resulting from an extra pair of the 21 chromosome. People with Down syndrome have several characteristics that lead to physical and intellectual changes and are responsible for one third of the cases of moderate and severe intellectual disabilities. Brazilian epidemiological data reveals an incidence of 1:600 live births varying according to the age of the parents. Growth has some differences and although it remains relatively constant at the beginning of the growth spurt, the stature is lower, thus resulting in shorter height in comparison to individuals with no syndrome. The growth of people with Down syndrome have been studied for over 80 years and growth curves have been developed in countries such as USA, Netherlands, Sweden, United Kingdom, Ireland, among others, being the American curve developed by Cronk et al in 1988 used as reference,. In this study it was observed that during puberty, the growth in females from 10 to 17 years decreased 27%, while for males, from 12 to 17 years decreased by 50%. However, these curves are considered inappropriate for our population. This study aims to characterize the growth patterns of people with Down syndrome in the city of São Paulo. The methodology was based on a cross-sectional descriptive study, in which selected schools and specialized institutions in the city of São Paulo had performed anthropometric data (height, body mass and triceps skin fold and sub scapular) in females and males aged 07 (seven) to 18 (eighteen) years with the syndrome. It was divided into four articles adjusting to the new structure of the study. The proposal of the first article, is to review the literature on growth curves of both national and international; the second study addresses the issue of obesity among children and young people with Down syndrome; the third and fourth study, aims at the development of a growth curve in height and weight of children from 9 to 10 years and from 13 to 15 years, respectively, thus contributing to the development of a Brazilian reference. Data were drawn using Microsoft Excel 2007 software and the statistical package SPSS 17.0, also analyzed using descriptive statistics (mean and standard deviation and percentiles). The results showed that for the evaluation of children and adolescents with Down syndrome, according to their growth, curves are recommended as reference, for there is a lack of specific data to the Brazilian population with the syndrome / Mestrado / Atividade Fisica Adaptada / Mestre em Educação Física

Orientador: Carlos Roberto Hoppe Fortinguerra / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Odontologia de Piracicaba / Made available in DSpace on 2018-07-25T22:07:02Z (GMT). No. of bitstreams: 1 RossiJunior_WagnerCosta_M.pdf: 3306799 bytes, checksum: 8e614b0130c8a58de2b21e99a62b753c (MD5) Previous issue date: 1999 / Resumo: O objetivo deste estudo foi comparar eletromiograficamente os mm. temporais, masséteres e supra-hióideos, direito e esquerdo, de voluntários com síndrome de Down com voluntários normais, durante movimentos de mastigação livre e oclusão cêntrica forçada. Participaram deste estudo (10) voluntários com síndrome de Down, de ambos os sexos, com idade variando de 15 a 39 anos e (8) voluntários normais, de ambos os sexos, com idade variando de 18 a29 anos. Todos os voluntários realizaram repetições de cada movimento. Para a análise dos traçados eleetromiográficos, foram coletados os valores de RMS (raiz quadrada da média) e estes foram submetidos ao processo de normalização pela média dos valores obtidos. Uma análise qualitativa também foi realizada, a partir dos coeficientes de variabilidade obtidos das 5 repetições realizadas por cada voluntário e então, os traçados eletromiográficos eram tratados através de retificação, envoltório linear e normalização. Os resultados mostraram que não existiu diferença estatisticamente significante entre os músculos examinados em nenhum dos movimentos realizados, quando se comparou os dois grupos selecionados. Uma pequena diferença foi observada entre os .mm. temporais direito e esquerdo dos voluntários com síndrome de Down e ainda, se constatou um padrão gráfico diferente daquele que foi observado nos voluntários normais, durante o movimento de mastigação livre / Abstract: The purpose of this study was to compare electromyographically the temporal, masseter and supra-hyoids muscles, right and left, of volunteer's with Down syndrome and normal patients during free movements of chewing and forced centric occlusion. There were ten (10) volunteers who participated with Down syndrome involving both sexs, aged ranging from 15 to 39 years old and eight (8) normal volunteers, including both sexs, aged ranging from 18 to 29 years old. All of them realized five repetitions of each movement. For the analysis of the electromyographic signals, the RMS ( Root Mean Square) values obtained. A qualitative analysis also was realized, from the coefficient of variation obtained of the 5 repetitions made from each patient and so the electromyographic signals were processed by the rectification, linear envelope and normalization. The results showed that there weren't statistical significant differences among the examined muscles in none of the movements realized, when we compared the two selected groups. A small difference was observed among the right and left temporal muscles of volunteers with Down syndrome and still, we noticed a graphic partem different from that one observed in normal volunteers, during the free movement of chewing / Mestrado / Anatomia / Mestre em Biologia e Patologia Buco-Dental

M.A. (Psychology) / Please refer to full text to view abstract

<p>The relationship between gene copy number and protein expression levels has not thoroughly been examined in humans or mouse models of Down syndrome (DS) in relationship to developmental changes in the trisomic brain. Found on human chromosome 21 (Hsa21) and triplicated in DS, Dual-specificity tyrosine-phosphorylated regulated kinase 1A (<i>DYRK1A)</i> has been linked in DS to neurological deficits by restricting cell growth and proliferation. Little information exists regarding DYRK1A during perinatal development and how its expression may lead to cognitive deficits, and none exists that explores the gene-to-protein relationship during these critical time periods. This study aims to 1) Quantify variable DYRK1A expression across development as a function of age, sex, and brain region in trisomic Ts65Dn mice compared to euploid counterparts and 2) establish that the spatiotemporal pattern of developmental DYRK1A in the brain is not influenced solely by gene copy number, and that reduction of <i>Dyrk1a</i> in euploid and trisomic mice does not result in a corresponding global reduction of DYRK1A expression. DYRK1A was quantified in three areas of the postnatal brain at seven ages using the Ts65Dn mouse, the most studied model of DS, and found that trisomic expression is significantly increased on postnatal day ([P]6), declining by the third week to near euploid levels. We also uncovered a sexual dimorphic expression of DYRK1A when comparing animals of different sexes within the same genotype. Data from <i>Dyrk1a</i> knockdown mice indicated that reducing only <i>Dyrk1a</i> in euploid and in otherwise trisomic animals yields highly variable levels of DYRK1A, dependent on sex and tissue type, supporting the non-intuitive relationship between gene dosage and protein expression. These data emphasize the need to understand the age-dependent regulation of antecedent conditions that are causing changes in <i>Dyrk1a</i> expression in the brain.</p>

京都大学 / 新制・課程博士 / 博士(医科学) / 甲第23472号 / 医科博第131号 / 新制||医科||9(附属図書館) / 京都大学大学院医学研究科医科学専攻 / (主査)教授 滝田 順子, 教授 髙折 晃史, 教授 江藤 浩之 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is a complex genetic disorder caused by the triplication of human chromosome 21 (Hsa21). The presence of an extra copy of an entire chromosome greatly disrupts the copy number and expression of over 350 protein coding genes. This gene dosage imbalance has far-reaching effects on normal development and aging, leading to cognitive and skeletal defects that emerge earlier in life than the general population. The present study begins by characterizing skeletal development in young male Ts65Dn mice to test the hypothesis that skeletal defects in male Ts65Dn mice are developmental in nature.Femurs from young mice ranging from postnatal day 12- to 42-days of age (P12-42) were measured and analyzed by microcomputed tomography (μCT). Cortical defects were present generally throughout development, but trabecular defects emerged at P30 and persisted until P42. The gene Dual-specificity tyrosine-regulated kinase 1a (Dyrk1a) is triplicated in both DS and in Ts65Dn mice and has been implicated as a putative cause of both cognitive and skeletal defects. To test the hypothesis that trisomic Dyrk1a is related to the emergence of trabecular defects at P30, expression of Dyrk1a in the femurs of male Ts65Dn mice was quantified by qPCR. Expression was shown to fluctuate throughout development and overexpression generally aligned with the emergence of trabecular defects at P30. The growth rate in trabecular measures between male Ts65Dn and euploid littermates was similar between P30 and P42, suggesting a closer look into cellular mechanisms at P42. Assessment of proliferation of BMSCs, differentiation and activity of osteoblasts showed no significant differences between Ts65Dn and euploid cellular activity, suggesting that the cellular microenvironment has a greater influence on cellular activity than genetic background. These data led to the hypothesis that reduction of Dyrk1a gene expression and pharmacological inhibition of DYRK1A could be executed during a critical period to prevent the emergence of trabecular defects at P30. To tests this hypothesis, doxycycline-induced cre-lox recombination to reduce Dyrk1a gene copy number or the DYRK1A inhibitor CX-4945 began at P21. The results of both genetic and pharmacological interventions suggest that trisomic Dyrk1a does not influence the emergence of trabecular defects up to P30. Instead, data suggest that the critical window for the rescue of trabecular defects lies between P30 and P42.

Background: Down Syndrome (DS) is a chromosomal defect known to cause intellectual disability. Adolescents with DS may need to live with their families beyond the transition period into adulthood because they require lifelong care due to the disabling consequences of the genetic condition. Evidence is lacking about the actions that carers in remote rural communities are taking to enhance the rights of their adolescents with DS as enshrined in the United Nations Convention on the Rights of Persons with Disabilities (CRPD). Aim: To describe the advocacy and activism actions of carers that promote the disability rights of adolescents with DS. Objectives: To describe carers’ understanding of 'activism’ in relation to the needs of adolescents with DS; to explore what actions carers are engaging with in order to promote participation and equal opportunities for social inclusion of adolescents with DS; to describe barriers encountered and strategies used and to describe carers’ advocacy priority list for social inclusion of adolescents with DS. Methodology: A descriptive qualitative approach was used where three carers told their stories of activism and advocacy actions through a semi-structured in-depth interview method. Their stories were audio-recorded, transcribed into textual form and an inductive data analysis followed a framework approach guided by the research aims. Findings: One overriding theme Puuyelele (bringing adolescents with DS into the open) emerged with four categories: namely, “Speaking for and acting on behalf of adolescents with DS”, “Enabling a continuous enlightening process”, “Ensuring ongoing care and services” and “Raising public awareness on human rights of adolescents with DS”. Discussion: Three concepts about DS advocacy and activism for adolescents with DS formed the discussion; first, it is a strategic process requiring togetherness, courage and perseverance; second, it proceeds from vigilant care-giving and service provision and, lastly, it requires rising of human rights awareness. Conclusion: A strategic and contextualised DS advocacy and activism process such as Puuyelele requires human rights awareness and emerges from vigilant care that enhances community participation and social inclusion of adolescents with DS. The process creates a possible and realistic conceptual framework for further strengthening of disability-inclusive development initiatives in Namibia.

No description available.

Down syndrome (DS) is a congenital disorder caused by partial or complete triplication of human chromosome 21. By age 40, nearly all individuals with DS develop amyloid beta (Aβ) plaques and tau neurofibrillary tangles, the pathological hallmarks of Alzheimer’s disease (AD). This increased susceptibility to Alzheimer’s Disease in Down syndrome (AD-DS) has primarily been attributed to an over-dosage of the amyloid precursor protein (APP), which generates neurotoxic Aβ fragments when cleaved by β- secretase. However, the complete molecular mechanisms of AD-DS are not completely understood, as trisomy of chromosome 21 can induce AD-like neuropathology independently of APP triplication. In addition to classical AD neuropathology, enlarged, APP-positive early endosomes appear early in AD-DS pathogenesis and are the first site of Aβ accumulation. In AD, these endocytic abnormalities have been linked to dysfunction of the endosomal-sorting system known as the retromer complex. Mechanistically, retromer dysfunction can influence amyloid beta production by increasing interaction of the retromer cargo APP with beta-secretase. However, recent studies have also implicated the retromer complex in the development of tau pathology, both through regulation of tau phosphorylation and degradation via lysosomes. Given that retromer dysfunction is associated with the endosomal phenotype found in AD-DS, and that the retromer system can modulate key aspects of AD-DS neuropathology, the objective of the current study is to investigate the role of the retromer complex in the development of AD-DS. We first examined the retromer system in cortices and hippocampi from human patients with DS. Retromer recognition core proteins were significantly decreased in both the hippocampi and cortices of young and aged DS subjects compared to controls. Correlative analyses showed a significant inverse relationship between recognition core proteins and levels of soluble forms of Ab 1-40 and 1-42 in both hippocampus and cortex tissue, and phosphorylated tau epitopes PHF1 and PHF13 in the cortex of the same patients. While this does not indicate causation, these correlative analyses support the hypothesis that dysregulation of the retromer system and AD-like pathology are closely related. Next, we analyzed the retromer system in euploid and trisomic induced pluripotent stem cell (iPSC) -derived neurons and observed an age-related decrease in retromer proteins and elevation of Ab 1-40, Ab 1-42 and phosphorylated tau proteins in trisomic neurons compared to euploid controls. Additionally, we found that pharmacological stabilization of the retromer complex can reduce Ab and phospho-tau in trisomic iPSC-derived neurons. While total levels of retromer proteins are unaffected, we hypothesize that retromer function improves with TPT-172 treatment, as levels of early endosome proteins decrease while autophagy and lysosomal proteins increase with treatment. Treatment of trisomic neurons with TPT-172 also led to reductions in the neuronal tau kinase CDK5 and its activator p25, providing a potential mechanistic link between tau phosphorylation and pharmacological stabilization of the retromer system. Additionally, we examined the effects of genetic overexpression of VPS35, the backbone of the retromer core, in trisomic neurons. We observed similar decreases in AD pathology measures, however, the magnitude of the effect was smaller with genetic overexpression than with pharmacological stabilization using TPT-172. We hypothesized that trisomy 21 may can some inherent instability of the retromer system, possibly due to overabundance of retromer cargo protein APP, that is better overcome by enhancing stability of the complex rather than increasing VPS35 protein level via genetic overexpression. To further explore the role of the retromer system in the AD-DS phenotype, we performed a full characterization of cognitive function and the retromer complex at 2, 5, 9 and 12 months of age in the Ts65dn mouse model of DS. While we observed accelerated aging related cognitive and pathological changes in DS mice, we did not observe any protein levels changes in the retromer complex. However, because these mice do develop endosomal dysfunction that could be indicative of retromer dysfunction, we treated mice with TPT-172 from 4 to 9 months of age and examined cognitive function, the retromer system and AD pathology measures. We observed improvements in cognitive function tests and synaptic function in Ts65dn mice receiving TPT-172, as well as reductions in tau pathology, early endosome proteins, and early endosome size. Taken together, these data demonstrate that retromer complex deficiency occurs in human DS and may contribute to the development of AD-like pathology and cognitive decline in AD-DS. Because pharmacological stabilization of the retromer system improves AD-like pathology and cognitive function in models of DS, we conclude the retromer represents a potential therapeutic target for AD-DS. / Biomedical Sciences