This thesis presents a study of children’s speech. The children have Down syndrome (DS). Often the speech of children with DS is hard for other people to understand. The aim of the study is to try a new way of describing these children’s speech. My perspective reflects an ambition to conceive the children as active, speaking subjects. In phenomenology human beings are regarded as always being intentional. The phenomenological perspective on intentionality views articulation as intentional, even though we normally experience it as “automatic”. This seemed to be a fertile perspective for this study, where the central focus is on the intentionality in the speech, i.e. the relation between the speaker and his or her speech while speaking. I have drawn mainly on Merleau-Ponty’s views on speech. The speech of four children 6–7 years old was studied. The children were videotaped together with an adult in a specific situation (while naming pictures of familiar objects). The children’s speech was transcribed phonetically and some of the words were subjected to acoustic analysis. The main features of the situation were noted down. By means of the acoustic analysis, it was possible to study particular words in minute detail. These words were interpreted in relation to the context in which each utterance was made. The four children all differ individually in their speaking strategies. The children’s speaking strategies may be described as flexible or rigid, diversified or undiversified. Within the child’s total expression there is a part which, in my opinion, the child could reach and develop. In my study, I introduce the terms the accessible speech or the accessible expression for that part of the child’s expression. By the terms the visible speech or the visible expression, I have tried to capture the part of the expression which I conceive that the child is capable of approaching as an object. The terms accessibility and visibility involve the notion of intentionality; the speech is accessible or visible to someone. The children show us what is within reach for them. I believe that a good starting point for supporting the children’s speech development is the point where they reveal accessible and/or visible speech.

The aim of the current study was twofold: first, to examine the relationship between participants attitudes and their decisions about selective reproduction; second, to examine the influence of information about Down syndrome (DS) on these same decisions. As a preliminary step in investigating the influence of attitudes and information presentation on selective reproduction decisions, the current study examined the hypothetical decisions of female undergraduate students. Although presenting more positive information about DS did not appear to influence hypothetical decisions about selective reproduction, participants attitudes were related to these decisions. Specifically, attitudes toward persons with DS were related to decisions about prenatal screening. For decisions about prenatal testing and selective abortion, though, perceptions of parenting a child with DS mediated the relationship between attitudes and reproductive intentions. These findings suggest that women may be more likely to personalize their decisions about prenatal testing and selective reproduction by considering their perceptions of parenting a child with DS. These findings also suggest that informed decision making may require the inclusion of different information at the different decision stages (i.e., screening, testing, and selective abortion). In order to facilitate informed decision making, and in an attempt to ensure that attitudes toward persons with DS are informed by multiple perspectives, expanded information about DS should be included in prenatal screening protocols. Similarly, because perceptions of parenting appear to play a role in later decisions, information about raising a child with DS should be included in prenatal testing and selective abortion counselling sessions.

The aim of the current study was twofold: first, to examine the relationship between participants attitudes and their decisions about selective reproduction; second, to examine the influence of information about Down syndrome (DS) on these same decisions. As a preliminary step in investigating the influence of attitudes and information presentation on selective reproduction decisions, the current study examined the hypothetical decisions of female undergraduate students. Although presenting more positive information about DS did not appear to influence hypothetical decisions about selective reproduction, participants attitudes were related to these decisions. Specifically, attitudes toward persons with DS were related to decisions about prenatal screening. For decisions about prenatal testing and selective abortion, though, perceptions of parenting a child with DS mediated the relationship between attitudes and reproductive intentions. These findings suggest that women may be more likely to personalize their decisions about prenatal testing and selective reproduction by considering their perceptions of parenting a child with DS. These findings also suggest that informed decision making may require the inclusion of different information at the different decision stages (i.e., screening, testing, and selective abortion). In order to facilitate informed decision making, and in an attempt to ensure that attitudes toward persons with DS are informed by multiple perspectives, expanded information about DS should be included in prenatal screening protocols. Similarly, because perceptions of parenting appear to play a role in later decisions, information about raising a child with DS should be included in prenatal testing and selective abortion counselling sessions.

Virtually all signaling pathways that play key roles in development such as the transfroming growth factor (TGF)-beta, notch, and wnt pathways also influence tumor formation, implying that cancer is in a sense development gone awry. Therefore, identification and elucidation of developmental pathways has great potential for generating new diagnostic tools and molecular therapy targets. Singleminded-2s (SIM2s), a splice variant of the basic helilx-loop-helix / PER-ARNT-SIM (bHLH/PAS) transcriptional repressor Singleminded-2, is lost or repressed in approximately 70% of human breast tumors and has a profound influence on normal mammary development. In order to gain a better understanding of the mechanisms by which SIM2s restricts malignant transformation and progression in breast cancer, we depleted SIM2 RNA in MCF-7 cells using a retroviral shRNA system and examined gene expression and functional abilities of the SIM2-depleted MCF-7 cells (SIM2i) relative to a control MCF line expressing a non-specific “scrambled” shRNA (SCR). Depletion of SIM2 resulted in an epithelial-mesenchymal transition (EMT)-like effect characterized by increased migration and invasion, altered morphology, and loss of epithelial markers concomitant with gain of mesenchymal markers. The root of this effect may be loss of SIM2- mediated repression of the E-cadherin repressor slug, as SIM2 is able to bind and repress transcription from the slug promoter, and slug expression is dramatically elevated in SIM2i MCF-7 cells. Consistent with the previously established role of slug in resistance to various cancer therapies, SIM2i cells are resistant to the radiomimetic doxorubicin and appear to have elevated self-renewal capacity under certain conditions. Intriguingly, SIM2 protein levels are elevated by treatment with DNA damaging agents, and SIM2 interacts with the p53 complex via co-regulation of specific p53- target gene such as p21/WAF1/CIP1. These results provide a plausible mechanism for the tumor suppressor activity of SIM2, and provide insight into a novel tumor suppressive transcriptional circuit that may have utility as a therapeutic target.

Thesis (Ph. D.)--University of Washington, 2002. / Vita. Includes bibliographical references (leaves 94-99).

While obstructive sleep apnea among children with Down syndrome is very common, the pre-existing risk factors and its impact to neurodevelopment are not well known. The aims and objectives of this systematic review are to determine the prevalence of OSA among DS children and to identify the associated risk factors. 6 articles that met the inclusion criteria were retrieved after using PubMed and Google Scholar in literature searching. The prevalence of OSA has great variation among different countries but are relatively high, ranging from 57% to 79%. OSA was significant associated with obesity, age and tonsil size. It is also known to associate with behavioral problem in DS children and delay their neurodevelopment. Therefore, early treatment followed by appropriate modification in lifestyle and diet is crucial in managing OSA. / published_or_final_version / Public Health / Master / Master of Public Health

published_or_final_version / abstract / Physiology / Doctoral / Doctor of Philosophy

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No description available.

In the present study, performance on a range of mathematical reasoning and number processing tasks was assessed across two syndrome groups for which numerical ability is under-researched: Fragile X syndrome and Down syndrome. Given the paucity of current research, it was unknown whether all aspects of arithmetic and number processing would be globally affected across groups or whether there would be syndrome specific proficiencies and deficiencies. Statistical analysis revealed that males with fragile X syndrome performed significantly worse on all tasks even when performance was compared to typically developing children of a similar developmental level. However, when performance was compared to children with Down syndrome differing profiles emerged, with greater weaknesses by the fragile X syndrome males on specific tasks requiring mental arithmetic and basic numeracy skills. The importance of using syndrome specific information in the assessment of math disabilities and the design of early educational interventions are discussed.