Doktoravhandling--Copenhagen. / Bibliography: p. 97-[100].

Thesis (Ph. D.)--University of Texas at Austin, 2007. / Vita. Includes bibliographical references.

Indiana University-Purdue University Indianapolis (IUPUI) / Trisomy 21 occurs in approximately 1 out of 750 live births and causes brachycephaly, a small oral cavity, a shortened mid-face, and mental impairments in individuals with Down syndrome (DS). Craniofacial dysmorphology occurs in essentially all individuals with trisomy 21 and causes functional difficulties. Mouse models are commonly used to study the etiology of human disorders because of the conserved phenotypes between species. The Ts65Dn Down syndrome mouse model has triplicated homologues for approximately half the genes on human chromosome 21 and exhibits many phenotypes that parallel those found in individuals with DS. Specifically, newborn and adult Ts65Dn mice display similar craniofacial defects as humans with DS. Ts65Dn embryos also exhibit smaller mandibular precursors than their euploid littermates at embryonic day 9.5 (E9.5). Furthermore, Ts65Dn mice exhibit reduced birth weight which suggests a possible generalized delay in overall embryonic growth. Based on previous research at E9.5, it was hypothesized that Ts65Dn E13.5 embryos would have reduced mandibular precursors with altered gene expression. It was also hypothesized that other neural crest derived structures would be reduced in trisomic embryos. Using morphological measurements it was determined that the mandible, Meckel’s cartilage, and hyoid cartilage were significantly reduced in E13.5 trisomic embryos. The tongue was of similar size in trisomic and euploid embryos while cardiac and brain tissue volumes were not significantly different between genotypes. Analysis of total embryonic size at E9.5 and E13.5 revealed smaller trisomic embryos with developmental attenuation that was not related to maternal trisomy. A microarray analysis performed on the mandibular precursor revealed 155 differentially expressed non-trisomic genes. Sox9 was of particular interest for its role in cartilage condensation and endochondral ossification. It was hypothesized that the overexpression of Sox9 in the developing mandible would be localized to Meckel’s and hyoid cartilages. Immunohistochemistry performed on the mandibular precursor confirmed an overexpression of Sox9 in both Meckel’s and the hyoid cartilages. This research provides further insight into the development of trisomic tissues, both neural crest and non-neural crest-derived, and also the specific molecular mechanisms that negatively affect mandibular development in Ts65Dn mice and presumably individuals with Down syndrome.

The high susceptibility to infection in persons with Down Syndrome (DS) has led some investigators to explore the possibility of a defect in the immune system. Studies to date indicate no defect in humoral immunity suggesting that the defect might be in the cellular immune functions, but no specific defect has been found. Our investigation of the cellular immune system of adult DS patients was conducted by examining (1) the number and function of T-lymphocytes, (2) the phagocytic function of granulocytes, (3) the level of superoxide dismutase-1 (SOD-1) in leukocytes, and (4) the effects of SOD-1 on lymphocyte and granulocyte functions.

No description available.

The awareness that people with Down syndrome are at risk of dementia at a younger age, even in their forties or fifties, brings to the fore a group previously excluded from research. Literature documents the experiences of people with Down syndrome and, separately, that of people with dementia. This includes knowledge of individual experiences through self-advocacy, inclusion in service development, policy and research, and the drive for a more person-centred way of providing support. We do not have the same knowledge about the experience of individuals who have both Down syndrome and dementia. Research literature suggests that people with Down syndrome are already marginalised before a diagnosis of dementia, due to society’s interpretation of their intellectual disability. The first quantitative stage of this longitudinal, mixed method study demonstrates the awareness of carers and actions taken post-diagnosis, highlighting the social exclusion experienced by people with Down syndrome. The second more substantive, qualitative stage considers factors that impact on the experience of individuals with Down syndrome and dementia. My observation identifies factors that highlight the process of further social and cultural marginalisation after a diagnosis of dementia. Findings are initially based on a thematic analysis of my transcribed data to develop case studies, followed by cross case analysis. Emerging issues from both stages of the research suggest commonality of experience in relation to the lack of a shared diagnosis, lack of recognition of sense of Self or identity, failure to recognise the importance of adapting communication to enable social interaction, a readiness to define a person by their situation rather than as an individual, and my observations of the impact of staff. I suggest that care and support for people with Down syndrome and dementia is at a crossroads, with an absence of shared learning between intellectual disability services and dementia services. I demonstrate how far I have been able to synthesise my approach to methodology and methods of data collection to enable the inclusion of a group previously excluded from research, incorporating both verbal and non-verbal exchanges as dementia progressed. Despite individuals with Down syndrome and dementia not being visible in service development and policy, it has been evidenced that their participation in research is not only possible, it is essential, as this group continues to enjoy a longer life expectancy that brings with it an associated risk of dementia.

(MEdPsych)--University of Stellenbosch, 2004. / ENGLISH ABSTRACT: Stories let the world go round! In this study I try to tell a story, to weave the voices from the inside with those from the outside. It's my story, Lize's story, our story and the story of us all, our culture and our society - little patches of that. I try to explain narrative speech - inquiry, curiosity, purpose, inspiration and my commitment to the study. I explore stories about Down Syndrome and inclusive education. I try to follow the path of my own experience in the landscapes of narrative philosophy, inquiry and therapy. I tel! the story of my and Lize's shared experience during our work in therapy, I reflect on the process of this study as a self-story and the therapeutic outcome(s), the opening of more choices and possibilities and beyond: A journey. / AFRIKAANSE OPSOMMING: Stories laat die wêreld draai! In hierdie studie probeer ek 'n storie vertel, weef ek die binnestemme met die buitestemme saam. Dit is my storie, Lize se storie, ons storie saam, ons almal se storie en die storie van ons kultuur en samelewing of liewer kolletjies daarvan. Ek poog om narratiewe navorsing - ondersoek, belangstelling, doel, inspirasie en my verbintenis daartoe te verduidelik. Ek verken stories oor Downsindroom en inklusiewe onderwys. Ek volg die pad van my eie ervaring in die landskap van narratiewe ondersoek, uitgangspunte en terapie. Ek vertelook fragmente van my en Lize se gedeelde ervaring tydens ons saamwees in terapie. Ek reflekteer op die proses van die studie as selfstorie en die terapeutiese uitkoms(te)/ontdekking van meer keuses, moontlikhede en verder: 'n Pelgrimstog.

It is known that age-related changes impacting multiple organ systems occur earlier in people with Down syndrome (Ds), but the biological basis underlying this trisomy 21-associated propensity for premature aging is poorly understood. Given that the trisomic/normal cells from people with mosaic Ds (mDs) are identical with regards to environmental exposures and genes (except for chromosome 21 copy number), comparisons of these isogenic trisomic/disomic cells allow one to “unmask” the cellular consequences of trisomy 21 by removing extraneous factors. The primary aim of this study was to determine if trisomy 21 results in an increase in the acquisition of age-related somatic chromosomal changes. To meet this aim, chromosome-specific telomere lengths, senescence-associated distension of satellites (SADS), and chromosomal instability frequencies were compared between the isogenic trisomic/disomic cells of people with mDs ranging from 1 to 44 years of age. Chromosome-specific telomere lengths were quantified using a Q-FISH (pantelomeric probe) method. The average trisomic cell telomere length (3.609 mean, +/- 0.082 SE) was significantly less than the average disomic cell telomere length (3.888 +/- 0.083) (n=28; p

Background: Down syndrome (DS) is the most common cause of intellectual disability in children. The child has an extra chromosome in the 21st chromosome pair. It is important that the nurse is comfortable within their own field of knowledge in order to give every individual the specific care they need. Becoming a parent is a major event in people's lives and it can be fraught with joy and anxietya bout the future. Aim: The aim of this literature review was to describe parents' experiences of support from the health care professionals when the child is born with DS and the experiences of support during the child's first year. The aim was further more to describe the included articles data collections methods. Method: A literaturere view with descriptive design. The literature contains ten scientific articles with both qualitative and quantitative approach. The articles were collected through PubMed and Cinahl. The authors reviewed articles and looked for similarities and differences that could form the basis of the result. Main result: The literature review shows that parents of children with DS are concerned about the future when support and information from nurses and health care professionals is inadequate. The parents feel unprepared for the parent hood. The results of this review were based on both qualitative and quantitative articles. Interviews, surveys and questionnaires were used as data collection methods in these articles.    Conclusion: This literature demonstrates the importance of good communication between parents and health care professionals. The lack of informative and emotional support creating anxiety and fear among parents. Having a child with DS is something that can change the lives of the entire family. The nurse has an important role in providing adequate support to the whole family. / Bakgrund: Downs syndrom (DS) är den vanligaste orsaken till en intellektuell funktionsnedsättning hos barn. Barnet har en extra kromosom på det 21:a kromosomparet. Det är viktigt att sjuksköterskan är trygg inom det egna kunskapsområdet för att kunna ge varje individ den specifika vård den behöver. Att bli förälder är en stor händelse i människors liv och det kan vara förenat med både glädje och oro inför framtiden. Syfte: Syftet med denna litteraturstudie var att beskriva föräldrars erfarenheter av stöd från sjukvårdspersonal när barnet föds med DS samt erfarenheter av stöd under barnets första levnadsår. Syfte var även att studera de valda artiklarnas datainsamlingsmetoder. Metod: En litteraturstudie med beskrivande design. Litteraturstudien innehåller tio vetenskapliga artiklar med kvalitativ och kvantitativ ansats. Artiklarna samlades in via PubMed och Cinahl. Författarna granskade artiklarna samt letade efter likheter och skillnader som kunde ligga till grund för resultatet. Huvudresultat: Litteraturstudien visar att föräldrar till barn med DS känner oro inför framtiden när stödet och informationen från sjuksköterskan och sjukvårdspersonalen är bristfällig. Föräldrarna känner sig oförberedda på föräldraskapet. Resultatet i denna litteraturstudie baserades på både kvalitativa och kvantitativa artiklar. Datainsamlingsmetoder som användes i dessa artiklar var intervjuer, enkäter samt frågeformulär. Slutsats: Föreliggande litteraturstudie visar på betydelsen av god kommunikation mellan förälder och sjukvårdspersonal. Bristen på upplysande och känslomässigt stöd kan skapa oro och rädsla hos föräldrar. Att få ett barn med DS är något som kan förändra livssituationen för hela familjen. Sjuksköterskan har därför en viktig roll i att ge ett fullgott stöd till hela familjen.

The purpose of this study was to explore the meanings of the relationship of school-age siblings of brothers or sisters with Down syndrome in order to gain a greater understanding of the lived experience from the view point of the school-age sibling. Sibling spend more time together than any other family subsystem and siblings actively shape one another’s lives and prepare each other for future experiences. With children with Down syndrome living into their 60’s, the question regarding the sibling relationship is becoming an important focus due to the possible demands on the sibling to care for the individual with Down syndrome. Therefore, it is important to understand the sibling relationship at an early stage of their lives and what the lived experience is for the sibling. The framework for this study was developed from the author’s worldview of reciprocal interaction and epistemology of constructionism. The influences of the environment and other individuals on the sibling supported the use of the theoretical framework of Bronfenbrenner’s Bioecological System Theory. The notion that children are continually evolving holistic individuals who are developing through task achievements and, with the influences of family members, supported the use of Erikson’s psychosocial developmental theory. These two theories were combined to frame this study. Interpretive phenomenology was used as the method of research in this study. The sample consisted of seven school-age siblings, between the ages of eight to eleven years of age, of children with Down syndrome. Data analysis involved the use of the hermeneutic circle. From the analysis emerged seven themes: always together, tolerance, intense love, responsibility for my brother or sister, things will change when child with Down syndrome gets better, no difference from other families, and impact on other relationships. Two themes provided new information about the meaning of the lived experience of being a sibling, always together and things will change when child with Down syndrome gets better. The knowledge gained from this study will allow us to begin to hear sibling’s voices so that we can see what we need to do in the future to help with support and future research.