Thesis--Universidade Estadual de Campinas, 1979.

Thesis (M.Phil.) - University of Queensland, 2004. / Cover title. Includes bibliography.

Thesis (Ph. D.)--University of Wisconsin--Madison, 1974. / Typescript. Vita. eContent provider-neutral record in process. Description based on print version record. Includes bibliographical references.

Thesis--Universidade Estadual de Campinas, 1979.

Thesis (Ph. D.)--University of Hong Kong, 2006. / Title proper from title frame. Also available in printed format.

Thesis (Ph. D.)--University of Washington, 1987. / Vita. Bibliography: leaves [153]-163.

Thesis (Ph. D.)--Ohio State University, 1984. / Includes vita. Includes bibliographical references (leaves 87-98). Available online via OhioLINK's ETD Center.

Down syndrome, also referred to as trisomy 21, is a chromosomal abnormality in which the 21st human chromosome is partially or entirely duplicated. It is associated with a myriad of characteristics, including distinct facial deformities, intellectual disability, a heart defect, low muscle tone, and development of Alzheimer's disease symptoms with aging. This duplication is associated with increased levels of gene expression relative to what is present in euploid cells and disrupts the structure of some gene products. This study examines current mouse models of trisomy 21, describes a bioinformatics approach to evaluate relationships between genes on chromosome 21, and to determine the role they may play in Down syndrome associated intellectual disability. The Ts1Rhr, Tc1, and Ts65Dn mouse models are compared and contrasted to human trisomy 21. Representation of intellectual disability is determined by how the mice in each model perform on learning and memory tasks. Each model is examined for duplication of Down syndrome associated genes as well as for body weight, cerebral size, cerebellar size, balance, motor coordination, learning and memory, attention, activity, presence or absence of a heart defect, and presence or absence of a craniofacial defect. Next, a bioinformatics approach is proposed as tool with the capacity to examine the individual genes on chromosome 21, the relationships between the genes, group genes together by functional similarity and biological implication, and then establish which of these groups are enriched. The combined evaluation of mouse models and bioinformatics can be used as an innovative way to study the involvement in the intellectual disability associated with Down syndrome. Through the review of current mouse models and the evaluation of individual chromosome 21 genes using bioinformatics resources, the study seeks to determine what insights on intellectually disability can be gained.

Considerando-se que o conhecimento do educando é condição necessária ao se propor diretrizes para sua educação, este trabalho procurou obter dados que permitissem verificar a existência ou não de um perfil identificando o portador da Síndrome de Down. Assim, numa metodologia de Pesquisa Qualitativa, buscou dimensionar as características importantes para essa verificação, através de entrevistas semiestruturadas com mães e professoras de crianças portadoras da Síndrome de Down que frequentaram o Setor Educacional da APAE (Associação de Pais e Amigos dos Excepcionais), de São Paulo. Tanto as mães como as professoras enfatizaram a facilidade na comunicação oral, favorecendo os contatos afetivo-sociais do portador da Síndrome de Down, No entanto, foram divergentes quanto à caracterização de sua afetividade, não confirmando as informações iniciais quanto à sua docilidade e amistosidade. As mães revelaram suas necessidades de se sentirem atendidas e apoiadas a partir da notícia do diagnóstico da Síndrome de Down e durante todo o desenvolvimento, inclusive ao se referirem às próprias dificuldades em lidar com o assunto vida sexual e suas implicações. Constatou-se, portanto, a necessidade de uma atenção à família para uma ação eficaz, logo nos primeiros anos de vida da criança portadora da Síndrome de Down, considerando-se este período como marco inicial para sua educação. Os dados também revelaram necessidades específicas do portador da Síndrome de Down, a partir de dificuldades de compreensão mais abstratas detectadas pelas professoras, bem como de práticas pedagógicas, levando em conta o seu ritmo de aprendizagem. Esta e outras características assinalaram alguns pontos para se pensar ou repensar a educação do Portador da Síndrome de Down. / Considering that the knowledge of the student is a necessary condition to propose guidelines to his education, this work aimed to obtain data that could verify the existence or not of a way to identify the child with Down s Syndrome. Thus, this work searched for important characteristics, with a methodology of Qualify Survey, by interviewing mothers and teachers of children with Downs Syndrome who attended the Central Educational Departmente of APAE (Associação de Pais e Amigos dos Excepcionais) of São Paulo. Both the mothers and the teachers emphasize the facility in oral communication enabling the affective and social contacts. However, they were divergent concerning the characterization of the childrens affectiveness and also they did not confirm their prior information about the childrens meekness and amicability. The mothers showed their need to the supported when they come to know the diagnostic of the Downs Syndrome and its development, and also related to their own difficulties in dealing with some matters like sexual life and his implications. It was found out, therefore, that the need of an attention to the family in the first years of the child as an effective action and considering this period the initial point in his education. The data also showed some specific needs of the children related to their difficulties in comprehending abstract things noted by their teachers as well as in pedagogical practices, taking into consideration their learning rhythm. This and other characteristics showed some points to think about the education of the children with Downs Syndrome.

Includes bibliographical references / M.S. Florida State College for Women 1933