Screening the Utah State Training School (a resident institution for the mentally retarded) for kindreds having at least two institutionalized sibs generated 54 sib groups. Of these, 20-male only sibships had histories compatible with sex-linked mental retardation without physical stigmata (Martin-Bell or Renpenning type). Affected males had no characteristic physical stigmata (an appreciable number did have speech problems and/or seizure disorders) and exhibited IQs ranging from 5 to 74 with a mean of 34.2. Obligate carrier females had a mean IQ score of 91.9 (range, 79 to 106), which is as would be predicted due to random X-inactivation. Carrier females were tested with the MMPI, and showed elevated profiles. The results also indicated that the FAM scale would differentiate between groups of carrier females and normal females and between groups of carrier females and other females who had retarded children. It is suggested that the extension of psychometric methods may be useful in the identification of high risk females. Identification of these females would then allow for accurate genetic counseling, an objective which has not yet been achieved.

Made available in DSpace on 2016-03-15T19:40:01Z (GMT). No. of bitstreams: 1 Celia Maria Teodoro.pdf: 1447756 bytes, checksum: f3a9fef1c9b1e432d787ff5ecaa70e9a (MD5) Previous issue date: 2007-03-19 / Fundo Mackenzie de Pesquisa / The purpose of this study was to identify, describe and analyze the conditions that make things more difficult or easier found in the practice of sport activities by people with vision and physical impairment that became high level athletes. For such, a qualitative research of exploratory nature was performed, consisting in the application of a semi-structured interview with five paralympic athletes living in the city of São Paulo. The analysis of the data showed that rehab is a mean that benefits the entrance in the adapted sport driving disability people to high level sport. However, from the moment that they begin to practice a sport, since the physical education classes until the moment that they are called to the Paralympics, they face many difficulties with the adapted sport, appropriate places to train, prejudice, financial problems, lack of prepare from professionals, among others. In relation to the eases found to reach the Paralympics, they all state that they do not exist, however in the testimonials some evidences of situations that benefit the practice of sport activities are found, such as family support, financial support offered by the government, among others. The data showed that although the difficulties to the practice of adapted sports are much greater than the eases pointed by the athletes it is possible to overcome them. Nevertheless, the need to divulge high level sport to all society and also a greater interest of our rulers in the accomplishment of our laws that might benefit impaired people that practice sports and those who want to practice them. / O presente estudo tem como objetivo identificar, descrever e analisar as condições dificultadoras ou facilitadoras encontradas na prática de atividades esportivas por pessoas com deficiência física e visual que se tornaram atletas de alto rendimento. Para isso realizou-se uma pesquisa qualitativa de natureza exploratória, constando da aplicação de entrevista semiestruturada com cinco atletas paraolímpicos, residentes na cidade de São Paulo. A análise dos dados constatou que a reabilitação é um meio que favorece o ingresso no esporte adaptado impulsionando as pessoas com deficiências para o esporte de alto rendimento. Entretanto, a partir do momento em que iniciam no esporte, desde as aulas de educação física escolar até conseguirem convocação para as paraolimpíadas, enfrentam dificuldades com transporte adaptado, locais apropriados para treinar, preconceito, problemas financeiros, falta de preparo de profissionais, entre outros. Com relação às facilidades encontradas para se chegar a uma paraolimpíada todos relatam que não existem, porém nos depoimentos há algumas evidências de situações que favorecem a prática de atividades esportivas, tais como apoio familiar, incentivo financeiro oferecido pelo governo, entre outros. Os dados mostraram que apesar das dificuldades para a prática do esporte adaptado serem muito maiores do que as facilidades apontadas pelos atletas são possíveis de superá-las. Porém, há a necessidade de divulgação do esporte de alto rendimento para toda a sociedade e também um maior interesse dos nossos governantes no cumprimento de leis que possam beneficiar pessoas com deficiência que praticam esportes e aquelas que queiram praticá-los.

Thesis (Ph. D.)--State University of New York at Binghamton, Department of History. / Includes bibliographical references.