De acordo com a Epistemologia Genética, a linguagem possui relação direta com a construção do conhecimento. Tal relação é claramente observada a partir da constituição da representação, que permite ao indivíduo expressar seu pensamento por meio da linguagem oral. O objetivo da presente tese foi caracterizar o processo de constituição da representação pela criança com síndrome de Down (SD), investigando também a relação entre o uso de gestos e a emergência da linguagem oral. Dez crianças com SD e 15 crianças com desenvolvimento típico (DT) foram submetidas a sessões mensais de observação do desenvolvimento cognitivo e da linguagem expressiva, de acordo com o Protocolo para Observação do Desenvolvimento Cognitivo e da Linguagem Expressiva - versão revisada (PODCLE-r). As sessões foram realizadas durante o período de 10 meses, a partir da sessão em que os sujeitos estavam localizados no início da quarta fase do período sensóriomotor. Todas as sessões foram registradas em vídeo e transcritas em protocolo específico. Para melhor discussão dos dados, a pesquisa foi dividida em dois estudos. O objetivo do Estudo I foi caracterizar o processo percorrido pelas crianças com SD até chegarem à condição de representação, em comparação a crianças com DT. No Estudo II, a partir de uma análise mais detalhada desse processo, buscou-se investigar a relação entre o uso de gestos e a emergência da linguagem oral em crianças com SD em comparação a crianças com DT, equiparadas pela idade cognitiva. Os resultados revelaram que as crianças com SD apresentaram ritmo de desenvolvimento mais lento, tanto em relação ao desenvolvimento cognitivo quanto ao da linguagem expressiva. Além disso, foram observadas diferenças qualitativas entre os grupos em relação à diversidade de suas produções, com menor diversidade quanto maior a complexidade dos indicadores do desenvolvimento cognitivo e da linguagem expressiva, pelas crianças com SD. Essas crianças também apresentaram déficits mais significativos em relação à linguagem expressiva do que em relação ao desenvolvimento cognitivo, com dificuldades maiores no processo de transição das combinações de gesto e palavra para as combinações de duas palavras, especialmente em relação às combinações que envolviam somente elementos representativos. Esses achados sugerem que as crianças com SD, além de apresentarem atraso no desenvolvimento cognitivo e da linguagem expressiva, como relatado na literatura, podem apresentar dificuldades específicas no processo de desenvolvimento de ambas as áreas, as quais devem ser consideradas durante o processo terapêutico fonoaudiológico, de forma a favorecer sua maior efetividade. / According to the Genetic Epistemology, language development is directly related to cognitive construction. Such relationship is clearly observed after the constitution of representation that allows one individual to express his or her thinking through oral language. The aim of the present thesis was to characterize the process of constitution of representation in children with Down syndrome (DS), as well as to investigate the relationship between gestures and the emergence of oral language. Ten children with DS and 15 typically developing (TD) children underwent monthly evaluations, in which cognition and expressive language were observed according to the Protocol for Expressive Language and Cognition Development Observation - revised version (PELCDO-r). The observation sessions were carried out during a 10- month period, starting from the session that subjects were placed at the beginning of the fourth phase of sensorimotor period. All sessions were recorded in video and data were transcribed in a specific protocol. In order to better discuss the results, this research was divided into two studies. The aim of Study I was to characterize the process followed by the children with DS until the constitution of the capacity of representation, in comparison to TD children. In Study II, for a more detailed analysis of this process, it was aimed to investigate the relationship between gestures and the emergence of oral language in children with DS in comparison to TD children, matched for mental age. Results revealed that children with DS presented slower rhythm of development regarding both cognition and expressive language. Besides that, qualitative differences were found between groups concerning the diversity of their productions. Diversity decreased as the complexity of expressive language and cognition development indicators increased for children with DS. These children also presented greater deficits on expressive language than on cognitive development, presenting more significant difficulties in the transitioning process from gesture-word combinations to two-word combinations, especially with regards to combinations involving only representational elements. These findings suggest that children with DS, besides presenting delays on expressive language and cognitive development, as reported in literature, may present specific difficulties in the development process of both areas, which must be considered during the speech-language therapeutic process, in order to enhance its effectiveness.

INTRODUÇÃO: A atuação fonoaudiológica na síndrome de Down tem privilegiado os aspectos de cognição, linguagem e sistema estomatognático destes indivíduos. Devido à escassez de informações a respeito da voz nos sujeitos afetados por esta síndrome, a atuação fonoaudiológica, tanto em clínica quanto em pesquisa ainda é incipiente. Este estudo parte da hipótese de que a hipotonia muscular e frouxidão ligamentar características da síndrome podem afetar o trato vocal e, conseqüentemente, a fonação destas pessoas. OBJETIVO: Caracterização da voz do jovem adulto com SD, a partir de análises acústica e perceptivo-auditiva. MÉTODOS: Participaram 55 sujeitos com síndrome de Down de 18 a 29 anos, 31 do gênero masculino e 24 do gênero feminino. O material de fala consistiu de vogais orais sustentadas do Português brasileiro e foi gravado em mini-disc. Para análise acústica foi utilizado Dr Speech 4.0, Tiger Inc. O tempo máximo de fonação foi medido com cronômetro. Para análise perceptivo-auditiva 3 juízes especialistas em voz utilizaram escala GRBASI e a avaliação de ressonância do perfil de triagem vocal de Buffallo III. Foi realizado teste de concordância inter-juízes RESULTADOS: Valores acústicos médios : F0 gênero masculino 158,42 Hz; F0 gênero feminino 216,26 Hz; jitter 0,44%; shimmer 1,85%; desvio padrão F0 4,18Hz; freqüência do tremor 2,64 Hz; amplitude do tremor 3,45 Hz, energia de ruído glótico -8,45dB; proporção harmônico-ruído 19,87dB; proporção sinal-ruído 18,04dB; tempo máximo de fonação do gênero masculino 6,46 s; tempo máximo de fonação do gênero feminino 5,75 s. Teste de concordância inter-juízes indicou concordância estatisticamente significante, exceto para o parâmetro hiponasalidade. Os juízes estimaram corretamente a idade e o gênero dos sujeitos por meio da voz. A escala GRBASI indicou: Grau global moderado; Rouquidão de normal a moderado; Soprosidade de normal a severo; Astenia com maior concentração no grau normal; Tensão de normal a moderado. A avaliação da ressonância indicou: hipernasalidade de leve a severo; hiponasalidade de leve a severo; ressonância laringo-faríngica de leve a severo; ressonância oral de normal a leve e ressonância cul-de-sac não aparece significativamente na amostra. CONCLUSÕES: F0 do gênero feminino, jitter, shimmer e medidas de ruído dentro da normalidade. F0 do gênero masculino elevada e desvio padrão da F0 aumentado. Tempo máximo de fonação altamente desviante. A identificação de idade e gênero dos sujeitos por meio da voz não foi prejudicada pela elevação da F0. As vozes foram julgadas disfônicas, porém não se pode atribuir a um único parâmetro da escala GRBASI, que teve distribuição heterogênea. Foi identificado foco ressonantal nasal na quase totalidade dos casos, variando entre hiper e hiponasal associado a foco laringo-faríngico / INTRODUCTION: Down syndrome is one of the most common genetic pathologies. Speech and Language Pathology usually deals with cognitition, language development and oral-facial muscular aspects of this syndrome. Due to the lack of information about the voice of people with Down syndrome, Specch and Language Pathology research and voice therapy is still incipient. This research was based on the hipothesis that typical muscular hypotonia and ligamentous faintness of Down syndrome may affect vocal tract and, by consequence, phonation. PURPOSE: Perform acoustical and perceptual analysis of voice of young adults with Down syndrome. METHODS: 55 subjects with Down syndrome, 31 males and 24 females, ages 18 to 29 y.o., students of special education school. Speech signal consisted of sustained vowels of brazilian Portuguese was recorded in mini-discs and, for acoustical analysis, Dr Speech 4.0, Tiger Inc. was used. Maximum phonation time was measured with a digital cronometer. 3 judges, Speech and Language Pathologists voice specialists performed perceptual analysis using GRBASI scale and ressonance evaluation of Buffallo III Vocal Profile. Inter-judge reliability was computed. RESULTS: mean acoustic values: male F0 158,42 Hz; female F0 216,26 Hz; jitter 0,44%; shimmer 1,85%; standart deviation F0 4,18Hz; tremor frequency 2,64 Hz; tremor amplitude 3,45 Hz, normalized noise energy -8,45dB; noise-to-harmonic ratio 19,87dB; signal-to-noise ratio 18,04dB; male maximum phonation time 6,46 s; female maximum phonation time 5,75 s. Inter-judge reliability test was found positive, except for hiponasality. Judges were able to correctly estimate subjects age and sex by voice listening.GRBASI scale indicated : mild Grade; normal to mild Roughness; normal to severe Breathness; normal Asteny; normal to mild Tension. Ressonance evaluation indicated: light to severe hypernasal ressonance; light to severe hyponasal ressonance; light to severe laryngeal-faringeal ressonance; normal to light oral ressonance and cul-de-sac ressonance did not appear significantly at the sample. CONCLUSIONS: Normal female F0, jitter, shimmer and noise measurements inside the normal range. High male F0 and elevated F0 standard deviation. Extremely low abnormal maximum phonation time. Despite F0 elevation, judges could estimate correctly age and sex. GRBASI scale had heterogenous distribution. Voices were classified as disphonic, but we can´t atributte this classification to an isolated parameter. Nasal ressonantal focus was identified in almost every subject, ranging between hyper and hyponasal, associated to laryngeal-faringeal focus

O objetivo deste trabalho foi explorar as experiências de famílias no processo de inclusão de crianças com síndrome de Down na rede regular de ensino, a fim de conhecer as potencialidades e limitações vividas por essa clientela e, assim, levantar necessidades de cuidado, com vistas à promoção de saúde dessas famílias. Trata-se de um estudo de casos múltiplos, de abordagem qualitativa. Participaram da pesquisa 11 mães e um pai de crianças com síndrome de Down, cujas crianças frequentaram a APAE e foram encaminhadas para a rede regular de ensino do município de Ribeirão Preto-SP, no período de 2003 a 2006, totalizando 12 participantes e 11 famílias. Utilizamos, como principal técnica de coleta de dados, a entrevista semiestruturada, complementada pela elaboração do diário de campo. A análise dos dados foi feita por meio da análise de conteúdo. Os resultados foram agrupados nas seguintes categorias: a família e as consequências do diagnóstico da síndrome de Down na dinâmica familiar; o processo de transição para a primeira inclusão; vivendo a inclusão; e o balanço da experiência vivida e perspectivas para o futuro. Os resultados evidenciaram a necessidade de acompanhamento da família, principalmente das mães e pais que permanecem mais próximos do cuidado da criança, antes, durante e após a inclusão propriamente dita, de modo a apoiá-los nos momentos de busca e escolha da escola, da adaptação da criança ao novo ambiente e da transição dos atendimentos oferecidos pela instituição especializada para outros setores. A articulação entre os setores educacional e da saúde é crucial, além de um investimento no preparo das escolas e seus recursos humanos para a recepção dessa clientela. Esta pesquisa não objetivou indicar diretrizes para a inclusão de crianças com síndrome de Down na rede regular de ensino, mas compreender as experiências de famílias no processo de transição da instituição especializada para a rede regular de ensino. O conhecimento produzido nesta pesquisa contribui para mobilizar discussões entre os profissionais da saúde e da educação, na intenção de tornar o processo de inclusão da criança com síndrome de Down, na rede regular de ensino, uma etapa a ser vivida por ela e sua família da melhor forma possível, sentindo-se preparadas e acolhidas. / This study aimed to explore the experiences of families in the process of including children with Down syndrome into mainstream education, so as to get to know the potentials and limitations these clients are confronted with and, thus, survey care needs with a view to these families health promotion. This is a multiple case study with a qualitative approach. Research participants were 11 mothers and one father of children with Down syndrome, whose children attended a non-for-profit organization for children with intellectual disabilities and were forwarded to the mainstream education network in Ribeirão Preto-SP, Brazil, between 2003 and 2006, totaling 12 participants and 11 families. The main data collection technique was the semistructured interview, complemented with the elaboration of a field diary. Content analysis was used to analyze the data. The results were grouped in the following categories: the family and the consequences of the Down syndrome diagnosis for the family dynamics; the transition process to the first inclusion; living the inclusion; and the balance between past experience and future perspectives. The results evidenced the need to follow the family, mainly the mothers and fathers who accompany the childs care more closely, before, during and after the inclusion itself, so as to support them when they look for and choose the school, when the child adapts to the new environment and in the transition from the care offered by the specialized institution to other sectors. The articulation between the education and health sectors is crucial, as well as investments in the preparation of schools and their human resources to receive these clients. This research did not aim to set guidelines for the inclusion of children with Down syndrome into the mainstream education network, but to understand the families experiences in the transition process from the specialized institution to the mainstream education network. The knowledge produced in this research contributes to mobilize discussions between health and education professionals, in the attempt to make the inclusion process of the child with Down syndrome into the mainstream education network into a phase these children and their family can go through in the best possible way, feeling prepared and welcomed.

Submitted by Renata Lopes (renatasil82@gmail.com) on 2016-07-14T13:35:53Z No. of bitstreams: 1 nataliaoliveiracalil.pdf: 2631047 bytes, checksum: fe99cd07406b001cced19a01b4356be6 (MD5) / Approved for entry into archive by Diamantino Mayra (mayra.diamantino@ufjf.edu.br) on 2016-07-19T14:58:17Z (GMT) No. of bitstreams: 1 nataliaoliveiracalil.pdf: 2631047 bytes, checksum: fe99cd07406b001cced19a01b4356be6 (MD5) / Made available in DSpace on 2016-07-19T14:58:17Z (GMT). No. of bitstreams: 1 nataliaoliveiracalil.pdf: 2631047 bytes, checksum: fe99cd07406b001cced19a01b4356be6 (MD5) Previous issue date: 2011-08-17 / CAPES - Coordenação de Aperfeiçoamento de Pessoal de Nível Superior / Indivíduos com síndrome de Down (SD) desenvolvem frequentemente algumas comorbidades, entre elas o hipotireoidismo, que pode estar relacionado a alterações séricas de micronutrientes. Este estudo objetivou verificar aspectos epidemiológicos e caracterizar o estado nutricional relativo aos micronutrientes em indivíduos com SD. Os aspectos epidemiológicos foram verificados por meio de prontuários dos indivíduos com SD, assistidos em Juiz de Fora (MG), entre 2004-2008. Para análise dos micronutrientes, indivíduos com SD (9,7±3,4 anos) foram distribuídos em eutireoidianos (n=10) e hipotireoidianos (n=10) e o grupo controle (8,9±2,8 anos, n=34) foi selecionado entre escolares, pareados por sexo e idade. As quantificações de selênio, zinco, cobre, ferro e magnésio no soro foram realizadas por espectrometria de absorção atômica. A prevalência de SD foi 16,6/10.000 nascidos vivos. Dos 235 indivíduos com prontuários avaliados, 50,6% eram do sexo masculino, 18,8% apresentavam disfunções tireoidianas e 31,1% eram cardiopatas. Os indivíduos com SD apresentaram níveis séricos de selênio (38,6±10,5 μg/L), zinco (64,7±11,8 μg/dL) e cobre (110,9±20,7 μg/dL) significativamente diferentes do grupo controle (49,7±10,2 μg/L; 75,2±18,1 μg/dL e 100,4±17,1 μg/dL, respectivamente). Não foram observadas diferenças nos níveis de ferro e de magnésio entre os indivíduos com SD e o grupo controle, bem como nos níveis dos micronutrientes avaliados entre os indivíduos com SD (eutireoidianos e hipotireoidianos). A prevalência de SD se assemelhou ao descrito para o Brasil e a América Latina. Alterações nos níveis de selênio, zinco e cobre foram observadas nos indivíduos com SD, no entanto, não se correlacionaram ao desenvolvimento de hipotireoidismo nesta população. / Subjects with Down syndrome (DS) often develop some comorbidities, including hypothyroidism, and this fact may be related to changes in micronutrient serum levels. The aim of this study was determine the epidemiological profile and characterize the nutritional status of micronutrients in DS subjects. The epidemiological profile was determined by the analysis of DS patient medical records, treated in Juiz de Fora (MG, Brazil), from 2004-2008. For the analysis of micronutrients, DS subjects (9.7±3.4 years) were distributed in euthyroid (n=10) and hypothyroid (n=10) and the control group (8.9±2.8 years, n=34) was selected from students, matched by sex and age. Serum levels of selenium, zinc, copper, iron and magnesium were quantified using atomic absorption spectrometry. DS prevalence was 16.6/10,000 live births. Of the 235 DS subjects, 50.6% were male, 18.8% had thyroid dysfunction and 31.1% had congenital heart defects. DS subjects had serum levels of selenium (38.6±10.5 μg/L), zinc (64.7±11.8 μg/dL) and copper (110.9±20.7 μg/dL) significantly different from the control group (49.7±10.2 μg/L, 75.2±18.1 μg/dL and 100.4±17.1 μg/dL, respectively). There were no significant statistical differences between these groups in the serum levels of iron and magnesium, as well as in the serum levels of micronutrients assessed among individuals with DS (euthyroid and hypothyroid). The estimated prevalence of DS was similar to the values described for Brazil and Latin America. Altered serum levels of selenium, zinc and copper were observed in DS, but they did not relate to hypothyroidism in this population.

Submitted by isabela.moljf@hotmail.com (isabela.moljf@hotmail.com) on 2017-07-04T10:51:06Z No. of bitstreams: 1 adrianemariabernoderezendeduarte.pdf: 10309233 bytes, checksum: a1e9de941c8313691f0a256a4de6643a (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2017-08-08T14:29:33Z (GMT) No. of bitstreams: 1 adrianemariabernoderezendeduarte.pdf: 10309233 bytes, checksum: a1e9de941c8313691f0a256a4de6643a (MD5) / Made available in DSpace on 2017-08-08T14:29:33Z (GMT). No. of bitstreams: 1 adrianemariabernoderezendeduarte.pdf: 10309233 bytes, checksum: a1e9de941c8313691f0a256a4de6643a (MD5) Previous issue date: 2012-11-23 / O estudo da prevalência das manifestações urogenitais e seus fatores de risco associados às síndromes genéticas torna-se relevante à medida que abre caminhos para novos campos da epidemiologia, cujas intervenções precoces são decisivas e contribuem para boa evolução clínica, redução da morbimortalidade, qualidade de vida e longevidade.O presente estudo teve como objetivos avaliar a prevalência das manifestações urogenitais em pacientes com Síndrome de Down, bem como a associação entre as manifestações urogenitais encontradas e idade materna e paterna, gênero, tabagismo e álcool consumido pelos pais. Foram avaliados 114 pacientes de um ambulatório público especializado em pacientes com Síndrome de Down (SD) de outubro/2010 a outubro/2011. Utilizou-se questionário semi-estruturado, exames físicos e exames complementares. Foi realizada análise estatística descritiva das variáveis, correlação de Pearson e testes de hipótese. Observou-se incidência elevada de manifestações urogenitais (50,9%), com predomínio no gênero masculino. Dos 40 pacientes do gênero masculino, 26 (65%) apresentaram algum tipo de manifestação urogenital, enquanto das 74 pacientes do gênero feminino, 32 (43,2%) tinham algum tipo de manifestação. Não houve associação entre idade dos pais, nem consumo de álcool e presença de manifestação urogenital. Pais tabagistas apresentaram filhos com uma incidência maior de manifestações urogenitais. A prevalência das manifestações urogenitais nos pacientes com SD estudados foi elevada. Verificou-se forte associação entre o gênero masculino e manifestações urogenitais, bem como, uma forte associação entre tabagismo dos pais e a ocorrência das manifestações urogenitais. Idade dos pais e consumo de álcool não se correlacionaram com presença de manifestações urogenitais. / The study of the prevalence of urogenital manifestations and its risk factors associated with genetic syndromes becomes relevant as it paves the way for new fields of epidemiology, whose early interventions are decisive and contribute to the good clinical evolution, reduction of morbimortality, quality of life and longevity. This study aims to evaluate the prevalence of urogenital manifestations in Down syndrome patients, as well as the association of urogenital manifestations found, along with its variables: age of parents, gender, smoking and alcohol consumed by the parents. 114 patients of a free clinic specialized in Down syndrome (DS) were assessed from October/2010 to October/2011. The instruments used were the following: semi-structured questionnaire, as well as physical and complementary exams. A descriptive statistical analysis of the variables was done, as well as Pearson's correlation and hypothesis testing. A heightened incidence of urogenital manifestations (50.9%) was observed, with a prevalence of male individuals. Of the 40 male patients, 26 (65%) showed some type of urogenital manifestation. Of the 74 female patients, 32 (43.2%) displayed some sort of manifestation. There was no association between the age of parents, nor alcohol consumption, with presence of urogenital manifestation. Parents who smoked had children with a higher incidence of urogenital manifestations. The prevalence of urogenital manifestations in Down Syndrome patients studied was intensified. There was also a strong correlation of males and urogenital manifestations, as well as parents who smoked and the occurrence of such manifestations. Age of the parents and alcohol consumption was not correlated to the presence of urogenital manifestations.

Submitted by Geandra Rodrigues (geandrar@gmail.com) on 2018-04-11T17:40:41Z No. of bitstreams: 1 anacarolinapereirabotezine.pdf: 949226 bytes, checksum: defee8fab17efe231ca26993d0d794f5 (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2018-04-11T18:14:08Z (GMT) No. of bitstreams: 1 anacarolinapereirabotezine.pdf: 949226 bytes, checksum: defee8fab17efe231ca26993d0d794f5 (MD5) / Made available in DSpace on 2018-04-11T18:14:08Z (GMT). No. of bitstreams: 1 anacarolinapereirabotezine.pdf: 949226 bytes, checksum: defee8fab17efe231ca26993d0d794f5 (MD5) Previous issue date: 2018-01-23 / A síndrome de Down (SD) representa a anomalia cromossômica congênita mais comum da espécie humana, com prevalência aproximada de um para cada 800 nascidos vivos. Nos últimos anos houve um grande progresso no tratamento físico e mental de crianças com SD, resultando em um significativo aumento na sobrevida e maior integração destes indivíduos à sociedade. Porém, as doenças sistêmicas e/ou comorbidades nestes pacientes podem limitar essa sobrevida. Os agravos em saúde oral tendem a ser maximizados nestes pacientes. Método: Trata-se de um estudo epidemiológico transversal no qual procurou-se investigar a prevalência de agravos em saúde oral e o impacto destes na qualidade de vida de pacientes com SD usando como instrumento o índice Oral Healt Impact Profile (OHIP-14). Resultados: Os resultados demonstraram que dos 39 pacientes avaliados, 22 apresentaram alguma patologia sistêmica associada à síndrome. Em relação aos agravos orais, 69,2% (n=27) apresentaram periodontite e 51,2% (n=20) apresentaram dentes cariados com relação significativa aos domínios de dor e incapacidade do OHIP-14. Conclusão: Neste estudo, conclui-se que a idade e a presença da cárie dentária tiveram relação com a qualidade de vida dos portadores da SD, em relação aos domínios dor e incapacidade do OHIP-14, mas a presença de gengivite/periodontite e a presença de alguma doença sistêmica tal qual a cardiopatia e Diabetes mellitus tem influência na saúde de forma geral. / Down syndrome (DS) represents the most common congenital chromosomal anomaly of the human species, with an approximate prevalence of one in every 800 live births. In recent years there has been great progress in the physical and mental treatment of children with DS, resulting in a significant increase in survival and greater integration of these individuals into society. However, systemic diseases and / or comorbidities in these patients may limit this survival. Oral health complaints tend to be maximized in these patients. Method: This is a cross-sectional epidemiological study in which the prevalence of oral health problems and their impact on the quality of life of DS patients using the Oral Healt Impact Profile (OHIP-14) as an instrument was investigated. Results: The results showed that of the 39 patients evaluated, 22 presented some systemic pathology associated with the syndrome. Regarding oral complaints, 69.2% (n = 27) had periodontitis and 51.2% (n = 20) presented decayed teeth with a significant relation to the domains of pain and disability of OHIP-14. Conclusion: In this study, it was concluded that the age and presence of dental caries had a relation with the quality of life of patients with DS in relation to the pain and disability domains of OHIP-14, but the presence of gingivitis / periodontitis and presence of some systemic disease such as heart disease and Diabetes mellitus has an influence on health in general.

Orientador: José Irineu Gorla / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Educação Física / Made available in DSpace on 2018-08-19T21:41:06Z (GMT). No. of bitstreams: 1 Bertapelli_Fabio_M.pdf: 1796527 bytes, checksum: f8c8506268ba3996afe6db5e8313a108 (MD5) Previous issue date: 2012 / Resumo: O objetivo do presente estudo foi avaliar a composição corporal e o somatotipo de pessoas com idade entre 6 e 19 anos de idade de ambos os sexos com síndrome de Down, institucionalizados do município de Campinas - SP. Inicialmente, foi realizada uma revisão de literatura sobre a composição corporal de crianças e adolescentes com síndrome de Down. Os capítulos subseqüentes foram constituídos através da análise da prevalência de obesidade, topografia da gordura subcutânea e perfil somatotipológico, por meio da realização de treze medidas antropométricas, incluindo peso, estatura, diâmetros biepicondilar do fêmur e úmero, perímetros da perna medial e braço, dobras cutâneas tricipital, bicipital, subescapular, supra-ilíaca, abdominal, coxa e perna. Para determinação do percentual de gordura foram utilizadas as equações de Slaughter, Lohman e Boileau et al. (1988). Em relação à técnica do somatotipo, recorreu-se ao método de Heath e Carter (1967). O tratamento estatístico dos dados foi realizado através do pacote computadorizado R Commander 1.6-3 (Rcmdr) no software R plus, versão 2.12.1. Os dados foram submetidos ao teste de normalidade e utilizada estatística descritiva (mediana e percentis 25 e 75), teste de Mann-Whitney e teste t para amostras independentes para comparação entre grupos etários, adotando-se como nível de significância (p _ 0,05). A concordância entre os valores de gordura e o componente de endomorfia, e os valores de massa magra e o componente de mesomorfia foram analisados através do teste de correlação momentoproduto de Pearson e Spearman para dados paramétricos e não paramétricos, respectivamente. De acordo com a revisão de literatura, meninos e meninas apresentaram quadros elevados de obesidade na maioria dos estudos. Em relação ao aspecto genético, a análise do gene RE Xbal foi fundamental para a compreensão dos genótipos envolvidos com o sobrepeso. Além disso, os aspectos ambientais indicaram baixos níveis no consumo de calorias e práticas de atividades físicas em crianças e adolescentes com síndrome de Down comparados aos indivíduos sem a síndrome. Por fim, através da observação das variáveis fisiológicas, verificou-se a ocorrência de alterações no hormônio leptina e insulina, micronutriente zinco, colesterol, triglicérides e taxa metabólica basal. Com base nessas descobertas, foi possível concluir que os aspectos genéticos, ambientais e fisiológicos exerceram influências relativamente negativas sobre a composição corporal nos indivíduos com síndrome de Down. Em relação aos dados obtidos no presente estudo, a maioria dos indivíduos apresentou excesso de gordura, sendo encontrados valores superiores no sexo feminino em relação ao masculino, verificadas tanto na análise do percentual de gordura quanto nos valores somatotipológicos. Quanto à topografia da gordura subcutânea, a maioria apresentou maior concentração de gordura na coxa e menor depósito na região do bíceps. Diante dessas informações, considera-se que a avaliação da composição corporal e do somatotipo são recursos importantes para subsidiar pesquisadores e profissionais que atuam diretamente na melhora da qualidade de vida de crianças e adolescentes com síndrome de Down / Abstract: The aim of this study was to evaluate the body composition and somatotype of persons of both sexes aged between 6 and 19 years old with Down syndrome, institutionalized in the city of Campinas - SP. Initially, we performed a review of the literature regarding body composition of children and adolescents with Down syndrome. Subsequent chapters were established by analyzing the prevalence of obesity and measure and profile of subcutaneous fat somatotype, by performing thirteen anthropometric measurements including weight, height, biepicondylar diameter of femur and humerus, medial perimeters of the leg and arm folds, triceps, biceps, subscapular, suprailiac, abdomen, thigh and leg. To measure the fat percentage, the equations of Slaughter, Boileau and Lohman et al. (1988) were used. The method of Heath and Carter (1967) was used in relation to the somatotype technique. The statistical treatment of data was performed using the computer package R Commander 1.6-3 (Rcmdr) in the software R, version 2.12.1. Data was tested for normality and used descriptive statistics (median and percentiles 25 and 75), Mann-Whitney and t test for independent samples to compare age groups, adopting the significance level (p _ 0,05). The relationship between the values of fat and endomorphic component, and the values of lean body mass and mesomorphy component were analyzed using the correlation test of Pearson product-moment and Spearman for parametric and nonparametric data, respectively. According to the literature review, boys and girls showed high incidence of obesity in most studies. Regarding the genetic aspect, the analysis of gene RE Xbal was essential to the understanding of the genotypes related to being overweight. In addition, environmental aspects indicated low levels of calorie intake and physical activity in children and adolescents with Down syndrome compared to individuals without the syndrome. Finally, by examining physiological variables, changes occurred in the levels of leptin, insulin, micronutrient zinc, cholesterol, triglycerides and basal metabolic rate. Grounded by these findings, it is possible to conclude that genetics, physiology and the environment exerted relatively negative influences on the body composition of individuals with Down syndrome. Regarding the data obtained in this study, most individuals had excess fat, with higher values seen in both the analysis of the percentage of fat and the somatotype values in females compared to males. In the measure of subcutaneous fat, the majority presented a higher concentration of fat in the thigh and lower deposits in the area of the biceps. With this information known, it is considered that the value of body composition and somatotype are important resources to support researchers and professionals who work directly towards improving the quality of life of children and adolescents with Down syndrome / Mestrado / Atividade Fisica Adaptada / Mestre em Educação Física

M.Ed. / South Africa has undergone a transformation in the past decade. The year 2004 brings not only ten years of democratic governance, but also an inclusive philosophy of education. It is hoped that difference in whatever form in the ‘new’ South Africa is now acknowledged and celebrated. For many years, learners with Down syndrome were seen as ‘different’, which was synonymous with ‘subnormal’. These learners were initially institutionalized and later placed in special schools to ‘care’ for them. However, following global trends of building inclusive societies, South Africa has had to re-evaluate its education system, resulting in a shift towards an inclusive education system that accepts and supports learners with barriers to learning (including Down syndrome). The aim of this research was to explore curriculum adaptation for learners with Down syndrome in schools, which adhere to inclusive education principles. A case study design was selected since this would allow for an in-depth exploration of how the curriculum is being adapted for learners with Down syndrome. Two cases were used, comprising two primary schools in Gauteng. Parents, principals and educators in the foundation phase were included as participants. Interviews were conducted with the participants and direct observation was conducted in two of the foundation phase classes at the respective schools. This data was complemented by document analysis and data collected during a two-day workshop I attended on inclusive education, focusing on Down syndrome specifically. Within-case analysis and later cross-case analysis were carried out using the constant comparative method of data analysis. Through cross-case analysis a number of themes emerged that are indicative of the course of curriculum adaptation for learners with Down syndrome in the foundation phase. Firstly, there are multifaceted and multidimensional individual considerations pertaining to the learners with Down syndrome, the parents, the educators, the principal and the school that influence curriculum adaptation. Secondly, the process of curriculum adaptation progresses through identifiable chronological steps through lesson planning and lesson implementation. The initial grade planning phase can precede the utilization of the six steps of adaptation activities for learners with Down syndrome. Lastly, classroom management strategies and the deployment of learning assistants are incorporated when adapting the curriculum for learners with Down syndrome, in order to optimise the learning experience for these learners. / Prof. R.E. Swart

A mere glance at a family photograph of the Victorian era leaves little doubt of the position of the figure exuding impervious, authoritarian detachment. Austere, rigid and solemn, it is not hard to guess who cast the shadow over the picture. Arrestingly imposing in his role as backbone of the family, this is the nineteenth century legacy image of the father. However, the last century has seen fatherhood redefine itself and the more liberal, lenient and openly loving figure replaced the strict patriarchal model. In contemporary times, fathers are regularly seen comfortably behind a stroller, outdoors with children on their shoulders, at home tousling with their children, and considerably more involved in school and social events. Unashamedly, fathers have moved toward both acknowledging and displaying a softer paternal image. By definition fatherhood is a decidedly individual concept and a unique experience, involving much more than being the male parent in a family, the family protector, or the provider of paycheques. Although the past decade has seen a surge of research and interest in fatherhood with an increased recognition that the involvement of fathers contribute to the well-being, cognitive growth and social competence of their children, there remains a deficit in research on the experiences, perceptions and involvement of fathers of children diagnosed with Down syndrome. And whilst most of this knowledge base is extrapolated from studies about the mother’s experience, true understanding requires that fathers are studied directly. Mothers and fathers respond differently to the pressure associated with raising a child with Down syndrome and literature supports the common view that men are less likely and easy to engage in therapy than women, are less likely to attend therapy, or seek help for physical or psychological problems. For fathers of any differently abled child, the distance between the idealized fathering experience and the actual one may be enormous. Based upon the patriarchy model of the family, in many conventional homes, the wife and mother is like a thermometer, sensing and reflecting the home’s temperature, whilst the father and husband is like the home’s thermostat, which determines and regulates the temperature. The equilibrium of the father plays an important role in his ‘thermostat settings’ to set the right temperature in the marriage and his family. Having a differently abled child is almost never expected and often necessitates a change in plans as the family members adjust their views of their own future, their future with their child, as well as how they will henceforth operate as a family.Some fathers may experience uncertainty about their parenting role of a child diagnosed with Down syndrome, often resulting in peculiar behaviours of the father. This may include engrossing themselves into their work, hobbies, sport, and so forth, almost abdicating their duty as father; believing that the mother knows best (sometimes using their own lack of knowledge as a cop-out); or, they simply withdraw because the mother takes such complete control of every aspect of the child that the father feels inadequate, superfluous, and peripheral as parent. Each parent grieves the ‘loss’ of the child they expected in their own individual way. However, such a highly emotive situation may be compounded by the following aspects: the undeniable pressure of caring for the differently abled child; the additional financial burden; a waning social life; and, the incapacity to cope emotionally whilst invariably displaying the contrary purely to create the illusion that they are indeed coping. Fathers need to develop strategies and skills to cope with the very real and practical needs of parenting their child with Down syndrome, to furthermore minimize relationship conflict and misunderstanding, and to support their child’s optimal development. How these specific issues are embraced and managed may dramatically influence the peace and harmony of family life as well as the marital relationship. This study explores the perspectives of fathers of a child with Down syndrome to ultimately support this unique journey as they navigate their way through “Down”town Holland, as illustrated in the analogy to follow.

This essay explores the understanding of suffering from an ethical stand point. The issue of defining suffering is not an easy task albeit an important one, depending on the definition different consequences ensues. This essay examines how suffering is defined in the field of bioethics, and how these definitions become apparent through the argument of certain biomedical ethicists. To pinpoint the moral arguments and dilemmas a preexisting case, the case of Baby (or Infant) Doe is examined from each biomedical ethicist’s perspective. From the conclusions gathered from the studies, this essay will then attempt to answer the question of defining and understanding suffering.