Note:

Thesis (M.S.)--University of Michigan, 1975.

Thesis (M.S.)--University of Michigan, 1975.

Thesis--Universidade Estadual de Campinas, 1979.

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.

published_or_final_version / Medical Sciences / Master / Master of Medical Sciences

Children with Down syndrome present with an array of physical and cognitive sequelae that can hinder speech and language development. These individuals can constitute a considerable portion of a speech-language pathologist’s caseload. Based on the principles of best evidence, clinicians are ethically responsible for providing the most effective treatment for their clients. The available literature focuses mainly on describing the linguistic characteristics in this population, while relatively less focus is placed on effective intervention programs. This paper investigates the available evidence regarding speech and language interventions for children with Down syndrome who are in the mild to moderate range of linguistic functioning, and provides an outlook for future research based on best evidence. / text

Down syndrome (DS), caused by an extra chromosome 21, affects 1 in 750 live births, and is characterized by cognitive impairment as well as several congenital defects. Currently, little is known about the molecular pathogenesis of DS and no direct genotype-phenotype relationship has yet been confirmed. The current screening test for DS subjects many women to undergo invasive procedures such as amniocentesis due to suboptimal sensitivity and specificity. Therefore, this study aimed to discover novel biomarkers to improve screening tests, and to discovery dysregulated molecular pathways in DS-affected fetus to better understand pathogenesis. To achieve this objective, proteomic analyses of amniotic fluid (AF) and amniotic fluid cells (amniocytes) were performed using mass spectrometry (MS), which allows discovery of a large number of proteins in complex biological samples. Since AF contains the most information of the developing fetus, we first generated the most comprehensive list of proteins present in AF by using high resolution MS. We then performed quantitative analyses of proteins from AF as well as amniocytes to reveal novel biomarkers and clues to altered molecular mechanisms of DS. Comparison between the proteome of AF from unaffected and DS-affected pregnancies allowed selection of 60 candidate biomarkers based on spectral counting. Two candidates, APP and TNC-C, were verified by immunoassays to show two-fold increase in AF from DS-pregnancies. Additionally, CPA4, MUC13, CEL, DPP4 and MMP2 were verified to be differentially expressed in trisomy 21-AF via selected reaction monitoring assays using triple-quadruple mass spectrometer. Amniocytes from DS-affected and unaffected fetuses were also quantitatively analyzed by using Stable Isotope Labelling of Amino acids in Cell culture technique. Over 4900 proteins were identified from amniocyte lysate and supernatant by LTQ-Orbitrap mass spectrometer, and 85% of these proteins were quantified based on MS/MS spectra ratios of peptides containing isotope-labelled amino acids. Proteins that consistently showed aberrant expression from affected amniocytes have been selected for further verification and molecular network analyses since they may play a role in DS pathogenesis.

M.A. (Counselling Psychology) / Sibling interaction is often an overlooked aspect of family functioning. For many years there has been an overemphasis on the importance of parental influences on children, yet common sense dictates that brothers and sisters must have some effect on each other even though this effect may not always be obvious. The sibling relationship is a life-long process, and is therefore highly influential throughout the life cycle ...