The purpose of our research study was to examine if there was a relationship between PA and functioning in adults with DS. Our research study had 17 adults with Down syndrome participate. The functional performance of participants were measured with the Timed Up-and-Go test (TUG) and the 6-minute walk test (6MWT). After the testing session was completed, the physical activity of participants over seven days was measured. The main findings were that adults with DS had low levels of physical functioning and PA, and that physical functioning was associated with PA levels. Improving the functional profiles of adults with DS may aid these individuals in accumulating the amount of PA required for improving their health.

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<p>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.</p><p>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.</p><p>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.</p><p>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.</p><p>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.</p>

The recent evidence concerning the nature of cognitive development in Down Syndrome (DS) suggests that it is different than normal development. The neuropathology seen in DS implicates a prenatal interruption of normal neural development as a possible basis for these differences. Since the hippocampal formation (HF) undergoes extensive postnatal maturation and is found to be abnormal in DS, it is proposed that cognitive deficits associated with DS would be most evident in tasks requiring hippocampal function. The performance of DS children at 16-18 months and 28-30 months of age was compared to that of age-matched control groups of normal children on two cognitive tasks requiring abilities that develop during the first postnatal year shown not to involve hippocampal function, and a task requiring abilities that develop during the second postnatal year shown to require hippocampal functioning. The results show that the DS performed comparably on the nonhippocampal tasks but differently on the hippocampal task. The normal children's performance supports the position that the ability to perform HF tasks develops during the second postnatal year while the performance of the older DS children suggested that this development does not occur in DS. The specificity of the deficits to the hippocampal task was interpreted as indicative of a lack of HF development in DS.

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Student Number : 9703129J - MSc(Med) research report - School of Pathology - Faculty of Health Sciences / Down syndrome is the commonest cause of congenital developmental disability in industrialized countries, where it occurs in approximately 1.4 per 1000 live births. In South Africa, the birth prevalence of Down syndrome was documented as 1.8 and 2.09 per 1000 live births in urban and rural populations, respectively. The physical, psychosocial and emotional burden of Down syndrome on affected families is significant. The aim of this study was to determine the reproductive choices of women with a child with Down syndrome, aged 1 year or older. The survey was conducted using a structured questionnaire. The sample consisted of fifty women; 36 African, 4 Asian and 10 Caucasian. The questionnaire assessed the mothers’ knowledge of Down syndrome prior to diagnosis, what counselling was received and how this knowledge was utilised. Information was also obtained on the mothers’ use of family planning, the knowledge and use of prenatal medical genetic screening and diagnosis, and what decisions would be made in future pregnancies. None of the sample group of mothers had prenatal diagnosis in their pregnancy with their Down syndrome child, but 76% (38) said that they would want prenatal diagnosis in any future pregnancies. Of the 50 mothers, 21 (42%) said they would terminate a pregnancy if Down syndrome had been detected, 26 (52%) said they would not, and 3 (6%) said they were unsure what they would have done if faced with this decision. Of the Caucasian women, 40% (4) said they would opt for termination of pregnancy, 40% (4) said they would not and 20% (2) were unsure. Of the African and Asian women, 52.8% (19) and 75% (3) respectively said they would not terminate an affected fetus. The information from this study can be used to improve the understanding of how women and their families cope with their children with Down syndrome and give insight for the provision of more effective and comprehensive genetic counselling.

Orientador: Mônica Fernandes Gomes / Banca: José Elias Matieli / Banca: José Benedito Oliveira Amorim / Resumo: Esta pesquisa avaliou por meio de análise eletromiográfica de superfície (EMGs)os efeitos terapêuticos de um dispositivo intrabucalsobre as atividades elétricas dos músculos masseter (porção superficial) e temporal (porção anterior), bilateralmente, em pacientes com síndrome de Down. A amplitude de abertura bucal, a intensidade de força mastigatória total (FMT) foram, também, investigadas por meio de paquímetro e transdutor de força. Adicionalmente, medidas antropométricas, incluindo índice de massa corporal (IMC), circunferências do pescoço (P) e abdominal (A) e relação cintura e quadril (RCQ) foram analisadas antes e após dois meses de terapia com DM. Dez pacientes com síndrome de Down, adultos, de ambos os gêneros, foram submetidos a uma terapia com um dispositivo mastigatório (DM). Os registros eletromiográficos foram realizados para avaliar a atividade elétrica dos músculos masseter e temporal, antes e após a terapia preconizada.Diante dos resultados obtidos, conclui-se que o DM promoveu diminuição das atividades elétricas do músculo temporal em condição de repouso da mandíbula e aumento da abertura bucal, conferindo um possível equilíbrio no sistema muscular mastigatório. A atividade elétrica na contração isométrica do músculo masseter e temporal foi aumentada, sugerindo uma maximização nas unidades motoras. A discreta redução do IMC e da RCQ indica, provavelmente, uma melhoria na distribuição de gordura corporal dos pacientes.Portanto, o DM colaborou para a melhoria do... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: This research evaluated the therapeutic effects of an intrabuccal device on the electrical activities of the masseter (superficial portion) and temporal (anterior portion) muscles, bilaterally, in patients with Down syndrome by means of surface electromyographic analysis (EMGs). The mouth opening amplitude and the total masticatory force intensity (FMT) were also investigated by means of a pachymeter and force transducer. In addition, anthropometric measurements, including body mass index (BMI), neck (P) and abdominal (A) circumference and waist and hip ratio (WHR) were analyzed before and after two months of DM therapy. Ten patients with Down syndrome, adults of both genders, underwent masticatory (DM) therapy. The electromyographic records were performed to evaluate the electrical activity of the masseter and temporal muscles, before and after the recommended therapy. In view of the obtained results, it was concluded that DM promoted a decrease in the electrical activities of the temporal muscle in a condition of rest of the mandible and increase of the buccal opening, conferring a possible balance in the muscular masticatory system. The electrical activity in the isometric contraction of the masseter and temporal muscle was increased, suggesting a maximization in the motor units. The discrete reduction in BMI and WHR probably indicates an improvement in patients' body fat distribution. Therefore, DM collaborated to improve the biomechanical performance of mastication / Mestre

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