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.

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Indiana University-Purdue University Indianapolis (IUPUI) / Down syndrome (DS) is the most common aneuploidy to affect humans and occurs in approximately 1 of 750 live births. Individuals with DS present with a wide range of clinical phenotypes. Common craniofacial phenotypic expressions include a small mandible, protruding tongue, and a flattened nasal bridge. These traits may affect the feeding, breathing, and swallowing of individuals with DS. Because some complications may go unnoticed for longer periods of time, we hypothesize that significant cardiac and GI defects may be indicative of feeding and airway difficulties. In order to better understand the secondary phenotypes resulting from DS, we have implemented a retrospective chart review of 137 infants between zero and six months of age who were evaluated through the Down Syndrome Program at Riley Hospital for Children from August 2005 to August 2008. Data regarding cardiac, gastrointestinal, endocrine, airway, auditory, and feeding abnormalities have been collected and incedences and comorbidites of these traits has been examined. Comprehensive results indicate cardiac abnormalities occur in 80% of infants, 60% experience gastrointestinal complications, feeding difficulties occur in 46%, and airway complications occur in 38% of infants. Infants with DS were found to be breastfed less over time, with an increase in tube feeds. Notably, we have found all infants with videofluoroscopic evaluations had some type of dysphagia. The presence of gastrointestinal abnormalities closely correlate with the need for tube feeds, and the comorbidity between GI anomalies and muscle tone appear to indicate the likelihood of feeding difficulties and need for altered feeding strategies. Comorbidities between feeding difficulties were nearly significant with cardiac defects and significant with GI abnormalities. Identification of such associations will help healthcare providers determine the best course of treatment and recommended feeding methodology for infants with DS. In order to utilize an in vitro model to study the craniofacial dysmorphologies seen in individuals with DS, cranial neural crest cells (NC) have been cultured. With these, we have begun to investigate the mechanisms behind a smaller trisomic mandibular precursor as compared to the euploid. With this in vitro model, we will be able to test proliferation, migration, and senescence of NC in a culture system.

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.

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

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.

Recent research provides evidence for new conceptualizations of memory, including the brain's drive to predict and anticipate future events based on past experiences, a narrowing gap between perceptual and mnemonic functions, and the importance of sleep-dependent memory consolidation. These new perspectives, which highlight the interactive nature of the brain bases of memory, are rarely applied to the study of memory in neurodevelopmental disorders. In the present work, I adopted some of these theoretical perspectives to rethink the study of memory in typical development and in neurodevelopmental disorders such as Down syndrome (Trisomy 21). Given that several studies have reported atypical patterns of brain connectivity in individuals with Down syndrome, this dissertation aims to assess the integrity of memory processing in this population by examining different levels of cross-regional communication measured at the neuropsychological level. I first provide evidence of impaired rapid interactions between the brain areas that mediate high-level influences on figure-ground perception and relatively unimpaired integration of neural inputs across local areas of visual cortex (Spanò, Peterson, Nadel, Rhoads, & Edgin, 2015; see Appendix A). In the second study, I demonstrate spared use of anticipatory scene representation, thought to rely on top-down information from the hippocampus and likely to support our understanding of the properties of the visual world (Spanò, Intraub, & Edgin, submitted; see Appendix B). Finally, the third study reveals impaired sleep-dependent memory consolidation of arbitrary object-label associations, symptomatic of a weak dialogue between prefrontal cortex and hippocampus (Spanò, Gómez, Demara, Alt, Cowen, & Edgin, in preparation; see Appendix C). Based on these findings, treatments for Down syndrome, and other developmental disorders affecting functional connectivity, should be aimed at establishing balanced neural communication and cross-regional connectivity early on in development.

The present study used quantitative and qualitative methodology to examine mothers’ hope and worry. Participants were recruited via autism and Down syndrome organizations. Two hundred fifty-nine mothers of children with autism spectrum disorders (n = 199) and Down syndrome (n = 60) responded to the online questionnaire. Most mothers were white (n = 230); eighty-seven percent were married and their average age was 39.06 years. Findings support previous research suggesting that hope is a protective factor against psychological distress: mothers with higher hope reported lower dispositional worry. Mothers were asked to describe what they worried about when they woke up at night; a thematic analysis of their responses resulted in identification of a number of self-focused and child and family-focused concerns. Results suggest that maternal level of education as well as child’s age, diagnosis and severity of impairment may impact mother’s level of hope and worry.

The study documented three case studies of primary school aged children with Down Syndrome attending ordinary public schools in Gauteng province, South Africa by employing an adapted ecosystemic model (Donald, Lazarus & Lolwana, 2002). Triangulation and content analysis was employed to analyse the data obtained from a parent questionnaire; parent, teacher and teaching assistant interviews; documented reports; school observations; an educator rating scale; a speech-language assessment and audiological screening. The study found that inclusive education had been successful for the participating children. Their communicative impairments impacted on the domains of communication, academic skills and socialization in the inclusive school context and had the greatest influence on their functioning in the ordinary school. The unique perceptions, attitudes and experiences of the children’s parents and educators were found to have a profound impact on the inclusive education process. The study found that systemic factors influencing inclusive education within the South African context acted as barriers and challenges to the successful inclusive education of the children and that their parents were the most influential and contributing force to the success of the process. Paramount implications for the systems and subsystems involved in the inclusive education process, clinical practice of Speech-Language Pathology and for the advancement of theory and research are discussed. A valuable proposed inclusive education process for the learner with Down Syndrome in the South African context is set out.

Thesis advisor: Penny Hauser-Cram / Williams syndrome (WS) is a genetic disorder marked by a microdeletion of approximately 25 genes on chromosome 7. Down syndrome (DS) is a genetic disorder marked by a chromosomal abnormality in which an additional copy of chromosome 21 is present in some or all cells. A comparative analysis of language acquisition between populations of children with WS and populations of children with DS yielded largely different patterns in language development. Phonology was found to be largely intact in children with WS, while children with DS struggled to produce intelligible and articulate speech. Semantics proved an area of relative strength in comparison to other areas of language development in both populations. Syntax was found to be a relative strength in the WS population, while children with DS struggled with syntactic output. Both groups exhibited difficulties in syntactic processing. In contrast to common conceptions regarding pragmatic strengths in children with WS, results indicated that gesture, narrative and discourse were areas of relative weakness in this population. Gesture, narrative and discourse proved areas of relative strength for children with DS. / Thesis (BA) — Boston College, 2011. / Submitted to: Boston College. College of Arts and Sciences. / Discipline: College Honors Program.