M.Ed. / South Africa has undergone a transformation in the past decade. The year 2004 brings not only ten years of democratic governance, but also an inclusive philosophy of education. It is hoped that difference in whatever form in the ‘new’ South Africa is now acknowledged and celebrated. For many years, learners with Down syndrome were seen as ‘different’, which was synonymous with ‘subnormal’. These learners were initially institutionalized and later placed in special schools to ‘care’ for them. However, following global trends of building inclusive societies, South Africa has had to re-evaluate its education system, resulting in a shift towards an inclusive education system that accepts and supports learners with barriers to learning (including Down syndrome). The aim of this research was to explore curriculum adaptation for learners with Down syndrome in schools, which adhere to inclusive education principles. A case study design was selected since this would allow for an in-depth exploration of how the curriculum is being adapted for learners with Down syndrome. Two cases were used, comprising two primary schools in Gauteng. Parents, principals and educators in the foundation phase were included as participants. Interviews were conducted with the participants and direct observation was conducted in two of the foundation phase classes at the respective schools. This data was complemented by document analysis and data collected during a two-day workshop I attended on inclusive education, focusing on Down syndrome specifically. Within-case analysis and later cross-case analysis were carried out using the constant comparative method of data analysis. Through cross-case analysis a number of themes emerged that are indicative of the course of curriculum adaptation for learners with Down syndrome in the foundation phase. Firstly, there are multifaceted and multidimensional individual considerations pertaining to the learners with Down syndrome, the parents, the educators, the principal and the school that influence curriculum adaptation. Secondly, the process of curriculum adaptation progresses through identifiable chronological steps through lesson planning and lesson implementation. The initial grade planning phase can precede the utilization of the six steps of adaptation activities for learners with Down syndrome. Lastly, classroom management strategies and the deployment of learning assistants are incorporated when adapting the curriculum for learners with Down syndrome, in order to optimise the learning experience for these learners. / Prof. R.E. Swart

A mere glance at a family photograph of the Victorian era leaves little doubt of the position of the figure exuding impervious, authoritarian detachment. Austere, rigid and solemn, it is not hard to guess who cast the shadow over the picture. Arrestingly imposing in his role as backbone of the family, this is the nineteenth century legacy image of the father. However, the last century has seen fatherhood redefine itself and the more liberal, lenient and openly loving figure replaced the strict patriarchal model. In contemporary times, fathers are regularly seen comfortably behind a stroller, outdoors with children on their shoulders, at home tousling with their children, and considerably more involved in school and social events. Unashamedly, fathers have moved toward both acknowledging and displaying a softer paternal image. By definition fatherhood is a decidedly individual concept and a unique experience, involving much more than being the male parent in a family, the family protector, or the provider of paycheques. Although the past decade has seen a surge of research and interest in fatherhood with an increased recognition that the involvement of fathers contribute to the well-being, cognitive growth and social competence of their children, there remains a deficit in research on the experiences, perceptions and involvement of fathers of children diagnosed with Down syndrome. And whilst most of this knowledge base is extrapolated from studies about the mother’s experience, true understanding requires that fathers are studied directly. Mothers and fathers respond differently to the pressure associated with raising a child with Down syndrome and literature supports the common view that men are less likely and easy to engage in therapy than women, are less likely to attend therapy, or seek help for physical or psychological problems. For fathers of any differently abled child, the distance between the idealized fathering experience and the actual one may be enormous. Based upon the patriarchy model of the family, in many conventional homes, the wife and mother is like a thermometer, sensing and reflecting the home’s temperature, whilst the father and husband is like the home’s thermostat, which determines and regulates the temperature. The equilibrium of the father plays an important role in his ‘thermostat settings’ to set the right temperature in the marriage and his family. Having a differently abled child is almost never expected and often necessitates a change in plans as the family members adjust their views of their own future, their future with their child, as well as how they will henceforth operate as a family.Some fathers may experience uncertainty about their parenting role of a child diagnosed with Down syndrome, often resulting in peculiar behaviours of the father. This may include engrossing themselves into their work, hobbies, sport, and so forth, almost abdicating their duty as father; believing that the mother knows best (sometimes using their own lack of knowledge as a cop-out); or, they simply withdraw because the mother takes such complete control of every aspect of the child that the father feels inadequate, superfluous, and peripheral as parent. Each parent grieves the ‘loss’ of the child they expected in their own individual way. However, such a highly emotive situation may be compounded by the following aspects: the undeniable pressure of caring for the differently abled child; the additional financial burden; a waning social life; and, the incapacity to cope emotionally whilst invariably displaying the contrary purely to create the illusion that they are indeed coping. Fathers need to develop strategies and skills to cope with the very real and practical needs of parenting their child with Down syndrome, to furthermore minimize relationship conflict and misunderstanding, and to support their child’s optimal development. How these specific issues are embraced and managed may dramatically influence the peace and harmony of family life as well as the marital relationship. This study explores the perspectives of fathers of a child with Down syndrome to ultimately support this unique journey as they navigate their way through “Down”town Holland, as illustrated in the analogy to follow.

This essay explores the understanding of suffering from an ethical stand point. The issue of defining suffering is not an easy task albeit an important one, depending on the definition different consequences ensues. This essay examines how suffering is defined in the field of bioethics, and how these definitions become apparent through the argument of certain biomedical ethicists. To pinpoint the moral arguments and dilemmas a preexisting case, the case of Baby (or Infant) Doe is examined from each biomedical ethicist’s perspective. From the conclusions gathered from the studies, this essay will then attempt to answer the question of defining and understanding suffering.

The purpose of this thesis is to query the legitimacy of offering preimplantation genetic diagnostic (PGD) testing against Down's syndrome on the basis of United Kingdom (UK) law and policies. I will argue that extending PGD testing for Down’s syndrome as a permissible use of this technology does not (straightforwardly) adhere with the Human Fertilisation and Embryology Authority (HFEA) Code of Practice's stated factors which are to be considered when assessing the appropriateness of PGD applications. Indeed, due consideration of the evidence given in the relevant literature about the capacities and quality of life possible for persons living with Down's syndrome would seriously call into question the validity of a positive judgment recommending PGD as a treatment service for Down's syndrome according to the current UK regulatory instruments. I end the thesis by considering why the HFEA's relatively recent decision to limit client access according to an exclusive list of "serious" and therefore "in principle" test-worthy genetic conditions—understood as legitimate applications for PGD—stands to entrench prejudice, stigma, social bias, and unfair discrimination against the disadvantaged social group of persons living with Down's syndrome.

This thesis explored attachment in individuals with intellectual disability (ID). It investigated the role attachment may have in presenting difficulties such as challenging behaviour, which is an area much researched within other populations. It also considered parental well-being in the early years following diagnosis and the implications this may have for attachment development. Paper 1 describes a systematic review of the literature on parental response and adaptation to a child’ diagnosis of an ID in the early years. The news of a child’s diagnosis can be met with a range of intense emotions however, existing research reports conflicting outcomes regarding the nature of parental reactions and the psychological impact that may result. 12 studies were reviewed with one study demonstrating a strong methodology. The review found that the comparison groups used within studies had an important bearing on how effectual parental response and adaptation appeared. Due to the limited literature available and the methodological variation within the reviewed studies, no clear conclusions could be drawn. Paper 2 describes an empirical study which investigated the contribution of attachment behaviour to engagement in challenging behaviour, whilst considering other variables, in adults with ID. 22 service staff completed assessment questionnaires which examined service user attachment behaviour, level of adaptive ability, challenging behaviour and other variables. The relationships between particular variables were analysed. Results showed that level of adaptive ability was significantly related to attachment behaviour and challenging behaviour. Attachment behaviour was also significantly related to challenging behaviour, particularly social withdrawal and lethargy. However, when adaptive behaviour was controlled for the significance of these relationships disappeared. Therefore attachment behaviour did appear to contribute to challenging behaviour but less significantly than level of adaptive ability. The nature of the interaction between these three key variables is unclear and requires further research. Findings support the implementation of effective attachment based interventions alongside evidence based behavioural strategies. This would be particularly important for those at high risk of attachment and behavioural difficulties, which current and previous findings suggest may be those with ASD and those with lower levels of ability. Paper 3 describes the strengths and limitations of the systematic review and empirical paper. The research process, findings and clinical implications from each of the previous papers are discussed and reflected upon.

Orientador: Daniela Atili Brandini / Resumo: A qualidade de vida é a percepção do indivíduo sobre sua posição na vida e em relação aos seus objetivos, expectativas, padrões e preocupações representando seu grau de satisfação. Cuidar de pacientes com Sídrome de Down (SD) demanda tarefas complexas, delicadas e sofridas que somadas as responsabilidades diárias, podem gerar um impacto na qualidade de vida. Além disso, toda sobrecarga, pode causar estresse social e trazer sentimentos de ansiedade e depressão, em longo prazo, ao cuidador de um portador da SD. Assim, o objetivo foi avaliar a qualidade de vida, ansiedade, estresse e depressão de cuidadores de pacientes com ou sem síndrome de Down. O estudo foi conduzido com uma amostra de 144 participantes, que serão divididos entre dois grupos denominados GC (Grupo Controle) e GSD (Grupo Síndrome de Down). No GC, participou do estudo cuidadores de crianças com desenvolvimento normal de uma escola pública, numa faixa etária de 4 a 8 anos e no GSD, participou do estudo cuidadores principais de pacientes com SD, numa faixa etária de 4 a 30 anos de idade. Para coleta de dados foram utilizados 5 questionários para identificação do cuidador, avaliação da qualidade de vida (WHOQOL-Bref), avaliação de depressão (BDI), avaliação de ansiedade (BAI) e avaliação de estresse (LIPP). Para a análise dos dados foram identificadas categorias referentes ao perfil do cuidador, e foi utilizado teste Qui-quadrado com post hoc Bonferroni modificado com nível de significância de p ≤ 0,05, para compa... (Resumo completo, clicar acesso eletrônico abaixo) / Doutor

Orientador: Fátima Elisabeth Denari / Resumo: Esta pesquisa tem como objetivo analisar as expressões e percepções de jovens com Síndrome de Down a respeito do afeto e da própria sexualidade. A metodologia abordada priorizou a escuta de adolescentes, tendo o afeto, sexualidade, a deficiência e a deficiência como categorias principais de análise, configurando-se como uma pesquisa qualitativa fundamentada na abordagem descritiva. Para tanto, foram realizadas três oficinas, com quatro jovens que apresentavam Síndrome de Down entre 18 e 22 anos. Os participantes frequentam o Centro de Atendimento Especializado Exclusivo, interior de São Paulo. Além da discussão, recorreu-se na confecção de desenhos e imagens em temas cotidianos, contemplando aspectos decorrentes da expressão não-verbal. A análise dos dados demonstrou a existência de uma educação sexual repressora para alguns jovens, apesar da faixa etária e constituição biológica lhes conferirem condições. Porém, a presente pesquisa apontou que muitos veem sua sexualidade de maneira positiva. Constatou-se, assim, os valores e as atitudes relacionadas ao afeto e a sexualidade podem ser transmitidos e assimilados pelas pessoas com Síndrome de Down, que favorece o aprendizado em comportamentos partilhados, tornando-os socialmente aceitos no contexto que fazem parte. Conclui-se que a limitação cognitiva, quando leve ou moderada, não impede a realização na inserção de programas referentes à educação sexual, demonstra prioridade, entendendo que a sexualidade é dimensão presente dur... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: This research aims to analyze the expressions and perceptions of young people with Down Syndrome regarding affection and sexuality itself. The approached methodology prioritized listening to adolescents, with affection, sexuality, disability and handicap as main categories of analysis, configuring itself as a qualitative research based on the descriptive approach. To this end, three workshops were held, with four young people who had Down Syndrome between 18 and 22 years old. Participants attend the Exclusive Specialized Service Center, in the interior of São Paulo. In addition to the discussion, we made use of drawings and images in everyday themes, contemplating aspects arising from non-verbal expression. The analysis of the data demonstrated the existence of a repressive sex education for some young people, despite the age group and biological constitution giving them conditions. However, the present research showed that many see their sexuality in a positive way. Thus, it was found that the values and attitudes related to affection and sexuality can be transmitted and assimilated by people with Down Syndrome, which favors learning in shared behaviors, making them socially accepted in the context they are part of. It is concluded that the cognitive limitation, when mild or moderate, does not prevent the realization of the insertion of programs related to sexual education, demonstrates priority, understanding that sexuality is present dimension during all human development,... (Complete abstract click electronic access below) / Mestre

There is some discrepancy on how differential reinforcement of other behavior (DRO) and response cost (RC) affect responding within the context of token economies. We evaluated DRO and two variations of response cost with and without verbal feedback to decrease response errors in the context of academic skills for three children diagnosed with Down syndrome. The results suggest that a token economy intervention alone, with or without verbal feedback, was not effective for 2 of 3 participants. Gestural prompting was required to reduce response errors for those 2 participants and is possibly responsible for reducing response errors for the third participant.

Title: Postural Stability in Adults with Down Syndrome Objectives: The goal of the thesis was to compare postural stability in individuals with Down syndrome and the control group comprising of healthy individuals, and to compare postural stability in adult men with Down syndrome and adult women with Down syndrome. Methods: The empirical part of the thesis was based on data collected from a pressure sensing platform MobileMat 3140 by Tekscan. The study was made up of 52 probands (30 men and 22 women). The probands were separated into the experimental and the control group based on their Down syndrome diagnosis. The experimental group consisted of 11 men and 15 women, with the average age being 38,4 ± 8,7 years, the average height 156 ± 7,2 cm, and the average weight 75,1 ± 16,2 kg. Similarly, the control group consisted of 11 men and 15 women, with the average age being 38,8 ± 9,2 years, the average height 175 ± 10,1 cm, and the average weight 78,9 ± 14,5 kg. The participants were measured in four modifications of the bipedal stance: wide base of support with the eyes open; wide base of support with the eyes closed; narrow base of support with the eyes open; narrow base of support with the eyes closed. Each measuring session took 30 seconds. Results: Six parameters of postural stability were...

Advances in Down syndrome (DS) research depend on the availability of mouse models that replicate the genetic landscape and resulting phenotypes of DS which allow for experimental manipulation to correlate cellular and molecular changes with behavior, in a way that is not possible with human studies alone. These models have been a critical component in understanding the underlying mechanism of the intellectual disability in people with Down syndrome. The Ts(1716)65Dn (Ts65Dn) mouse is one of the most commonly used models as it recapitulates many of the phenotypes seen in individuals with Down syndrome, including neuroanatomical changes and impaired learning and memory. Although Ts65Dn exhibits a number of traits also present in DS, studies have produced variable results across time that call into question the validity of Ts65Dn and its use as a tool for studying Down syndrome. As Ts65Dn is the platform employed to gather preclinical evidence for treatments of DS, a critical assessment regarding the validity of the model over time is necessary. In this study, we conduct a rigorous and comprehensive, comparative analysis of multiple cohorts from the Ts65Dn line to assess the stability and reproducibility of neuroanatomical and behavioral characteristics. We measured gross anatomical brain and body size, neuronal density in the hippocampus and cerebellum, alterations to oligodendrocyte maturation and myelination, acquisition of developmental milestones, and learning and memory performance using the Morris water maze. Our results show a significant amount of variability in Ts65Dn, both across as well as within cohorts. Inconsistent phenotypes in Ts65Dn mice highlight specific cautions and caveats for use of these mice when studying Down syndrome and suggest it is not always the most appropriate model system to use. In addition to phenotypic variability, a major pitfall of the Ts65Dn model is the unintended triplication of 60 non-DS-related genes and the unknown consequences on resulting phenotypes. Recent advances in gene editing strategies have allowed for the gene dosage normalization of those 60 genes and the generation of a new mouse model of Down syndrome, Ts66YAH. As this newly developed line has not yet been characterized, we conducted an analysis complimentary to our study of Ts65Dn to investigate the utility of Ts66YAH for Down syndrome research. We found Ts66YAH mice show no measurable neuroanatomical changes, developmental delays, or learning and memory deficits suggesting that the deleted non-DS-related genes do influence the phenotypes seen in Ts65Dn. Although Ts66YAH is a more genetically representative model of Down syndrome compared to Ts65Dn, it does not exhibit disease relevant phenotypes and therefore, may not be a suitable model for studying DS. The various downfalls identified in the present study may be impacting other mouse models of DS as well and thus, our analysis of Ts65Dn across time and comparative study of Ts66YAH illustrate the need for careful use and increased rigor to ensure translational and reproducible results when working with all mouse models of Down syndrome.