A síndrome de Down (SD) é a anomalia genética mais comum em seres humanos e acomete todas as etnias e níveis socioeconômicos. Esta síndrome também se manifesta na cavidade bucal dos indivíduos, alterando tecidos moles e duros, a constituição salivar e a microbiologia oral. Em relação à cárie dentária, muitos estudos na literatura avaliaram a experiência desta doença nas pessoas com SD, mas os resultados são conflitantes. Enquanto a maioria dos trabalhos reportou uma menor experiência de cárie nas pessoas com a síndrome comparadas a indivíduos não sindrômicos, outros estudos não mostraram diferença. Assim, três estudos foram conduzidos para elucidar algumas controvérsias. O primeiro estudo foi uma revisão sistemática de literatura que teve como objetivo determinar se existem ou não diferenças na experiência de cárie entre pessoas com e sem SD. Foram incluídos 13 artigos para extração dos dados. Entretanto, devido à baixa qualidade metodológica de todos os estudos, concluiu-se que não existe evidência cientifica para suportar a hipótese que pessoas com SD apresentem menor experiência de cárie do que indivíduos não sindrômicos. O segundo estudo teve caráter observacional e transversal e foi conduzido com131 crianças entre 6 e 12 anos de idade (60 com SD e 71 sem SD). Foram verificados os índices de placa (IP), índice de sangramento gengival (ISG), experiência de cárie e quantificação salivar Streptococcus mutans (S. mutans). Questionários que incluíram hábitos de escovação, dieta e renda dos participantes foram realizados. A experiência de cárie foi similar entre os dois grupos. Os IP e ISG foram menores nas crianças com SD e isto foi associado a uma maior supervisão dos pais ou responsáveis durante a escovação. Significativamente mais crianças com SD tiveram altas contagens salivares de S. mutans. O estudo concluiu que crianças com e sem SD da mesma faixa-etária apresentam experiência de cárie similar. Entretanto, crianças com SD frequentemente apresentam maiores contagens salivares de S. mutans do que crianças sem a síndrome. Além disso, crianças com SD que têm escovação supervisionada por pais ou cuidadores apresentam menores índices de placa e sangramento gengival. O terceiro estudo foi observacional laboratorial conduzido com o objetivo de avaliar a diversidade genotípica de S. 5 mutans e a acidogenicidade de diferentes genótipos deste microrganismo em crianças com e sem SD. Dezessete crianças (9 com SD e 8 sem SD) com altas contagens salivares de S. mutans foram selecionadas. Elas foram divididas em dois grupos: livres de cárie e com alta experiência de cárie. Isolados de S. mutans foram obtidos de cada paciente e 99 cepas (50 de SD e 49 sem SD) foram confirmadas utilizando PCR. Por meio de AP-PCR, observaram-se os diferentes perfis genotípicos. A acidogenicidade de uma cepa representativa para cada genótipo obtido foi avaliada. As crianças com SD tiveram uma menor diversidade genotípica de S. mutans do que as crianças sem a síndrome, e os genótipos avaliados das crianças com SD foram significativamente menos acidogênicos do que nas crianças sem síndrome. O estudo concluiu que crianças com SD apresentam genótipos de S. mutans menos acidogênicos quando comparados aos de crianças sem a síndrome. Os resultados dos trabalhos realizados permitem concluir que: não existem evidências científicas que suportem a hipótese que pessoas com SD apresentem menor experiência de cárie do que indivíduos sem a síndrome; pessoas com SD apresentam experiência de cárie similar a pessoas sem a síndrome; existe uma maior frequência de crianças com SD que apresentam altas contagens salivares de S. mutans do que crianças sem a síndrome; crianças com SD que têm escovação supervisionada por pais ou cuidadores apresentam menores índices de placa e sangramento gengival; os genótipos de S. mutans encontrados na cavidade bucal de crianças com SD são menos acidogênicos do que os das crianças sem síndrome. / Down Syndrome (DS) is the most common genetic anomaly in human, affecting all ethnicities and socioeconomic levels. The syndrome has also manifestations in the oral cavity of the subjects, altering soft and hard tissues, salivary constitution and oral microbiology. Regarding dental caries, previous studies have found conflicting results when evaluating the caries experience in DS subjects. While the majority of researchers reported a lower caries experience in DS versus non-DS subjects, other studies did not find difference. In order to elucidate the controversies, three studies were conducted. The first study was a systematic review with the aim of determining if there was difference in the caries experience in DS and non-DS subjects. In total, 13 articles were included for data extraction. However, due to the low methodological quality of all the studies, it was concluded that there was no scientific evidence to support the hypothesis that DS subjects have a lower caries experience than non-DS subjects. The second study was observational and cross-sectional and was performed with 131 children aged between 6-12 (60 with DS and 71 non-DS). The plaque index (PI), gingival bleeding index (GBI), caries experience and salivary Streptococcus mutans (S. mutans) quantification were investigated. Questionnaires that included tooth brushing habits, diet and income of the subjects were performed. Caries experience was similar in both groups. PI and GBI were lower in DS subjects, what was associated with a higher parental/caregiver supervision. Significantly more children with DS had high salivary counts of S. mutans. The study concluded that children with and without DS of the same age range have similar caries experience. However, children with DS often have higher salivary counts of S. mutans than children without the syndrome. In addition, children with DS who have tooth brushing supervised by parents or caregivers have lower PI and GBI. The third study was laboratory observational aimed to evaluate the S. mutans genotypical diversity and the associated acidogenicity in DS and non-DS children. Seventeen children (9 DS and 8 non-DS) with high salivary counts of S. mutans were selected and divided in two groups: caries-free and high caries experience. S. mutans isolates were obtained from each subject and 99 strains (50 in DS and 7 49 in non-DS) were confirmed through PCR. Different genotypical profiles were observed through AP-PCR technique. The acidogenicity of a representative strain from each genotype was analysed. DS children presented a lower S. mutans genotypical diversity than non-DS children. Moreover, the DS genotypes were significantly associated with less acidogenic than non-DS. The study concluded that children with DS present less acidogenic S. mutans genotypes when compared to children without the syndrome. In summary, the results of this studies allow conclude that: DS subjects have a similar caries experience than non-DS subjects; a significant higher frequency of DS children have higher S. mutans salivary counts than children without the syndrome; children with DS who have tooth brushing supervised by parents or caregivers have lower PI and GBI; the genotypes of S. mutans found in the oral cavity of children with DS are less acidogneic than those of children without the syndrome.

1.1 Background This thesis is presented as an investigation into the movement integration, performance processes and effects of anxiety on the skill acquisition of individuals diagnosed with Down syndrome or DS as it will be referred to in this thesis (a full description of this genetic condition is presented in the thesis introduction). The investigation of several features of motor control and performance pressure in individuals with DS is carried out through several related research projects which will be rationalised and outlined throughout. In both everyday life and in sporting situations, people are required to perform tasks quickly and accurately and these tasks vary in complexity. Some of these actions consist of one segment movements (e.g. turning on a light switch), whilst other actions have multiple segments (e.g. making a cup of tea) and the need to be fast whilst maintaining a high degree of accuracy is very important. Therefore understanding the basic principles behind these actions in individuals with DS and how performance pressure may affect speed and accuracy of movements will not just have theoretical implications, but also practical importance such as designing practice protocols to enhance functional independence. Motor skill control, learning and performance are imperative for everyday activities such as signing one’s name, dressing oneself and personal hygiene. The capability to perform these motor skills with or without support is of the upmost importance for individuals with DS. Discovering new channels of enhancement in motor skill control, learning and performance for individuals with DS is extremely important and vital step on the pathway to improving functional independence for personal and professional gains. 1.2 Outline of thesis This thesis attempts to investigate the issues relating to the programming of movements and the affects of anxiety on the motor skill learning of individuals with DS. The first experimental chapter focuses on the underlying mechanisms responsible for the planning, control and integration of multiple target aiming extension movements in individuals with DS. The aim of this chapter was utilise to the One Target Advantage (OTA) phenomenon in sequential extension movements to see if individuals with DS utilise similar movement planning and control strategies to typically developing (TD) individuals and individuals with an undifferentiated intellectual disability (UID). The second experimental chapter was designed to further understand the control of multiple directional movement actions in the DS population and the possible central and peripheral movement deficits. This experimental chapter aims to examine both the directional requirement of the second movement together with the effects of practice on the OTA phenomenon in persons with DS. Specifically, as in the first experimental chapter, we compare single-target movements with two-target extension sequences when the two-target responses are performed with a single arm and when there is a switch between the arms used to execute the first and second movement segments. However, in this chapter we also include sequences where the second movement in the sequence requires a reversal in direction to that of the first movement. The purpose of the third experimental chapter was to investigate the effects of environmental characteristics outside of those associated with the number of targets within a sequence. Specifically, the effects of performance pressure on the speed and accuracy of the movements of persons with DS. 1.3 Thesis format This thesis consists of a review of the literature, three research papers and a general discussion. All three manuscripts were written as stand-alone research articles and have been or are currently being prepared to be submitted for publication in international disability research journals. For consistency, all manuscripts have been written in the style of the American Psychological Association Publication Manual (Deckers, 2001) and the current recommendations adopted by the School of Sport, Health and Exercise Sciences, Bangor University for thesis preparation. For this purpose, all illustrations are numbered consecutively and citations are included in a single section at the end of this thesis. For ease of reading, all abbreviations are defined at their first appearance within each chapter of the thesis. Any contribution of co-authors is detailed in the ‘acknowledgements’ section of this thesis. All experimental chapters of this thesis are independent but linked, therefore at times there may be a necessary overlap in content between chapters.

Master of Science / School of Family Studies and Human Services / Briana S. Nelson Goff / Parenting a child with Down syndrome may pose unique challenges for parents’ relationship quality. Structural equation modeling was used with a sample of 351 mothers of children with Down syndrome to test if hope mediated the associated between various coping behaviors and relationship quality. Results indicated a greater degree of religious coping and internal coping were each significantly associated with more hope, whereas support seeking was not related with more hope. Higher hope was significantly associated with greater relationship quality. An indirect effect from both religious coping and internal coping to hope, and then hope to relationship quality was identified. Implications for family professionals and future research are discussed.

Made available in DSpace on 2014-06-11T19:27:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2008-07-29Bitstream added on 2014-06-13T19:35:59Z : No. of bitstreams: 1 cavalcante_lb_me_arafo.pdf: 525661 bytes, checksum: eedcceaa1d88ecd8c04e3ca7225d9019 (MD5) / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) / Vários periodontopatógenos podem colonizar muito precocemente a cavidade bucal de indivíduos com Síndrome de Down (SD). Isso reflete a alta prevalência (40%) de Doença Periodontal (DP) em adolescentes com SD, que evolui para cerca de 100% em indivíduos com idade próxima aos 30 anos. A higienização oral deficiente dos indivíduos com SD não é capaz de isoladamente explicar a destruição periodontal severa nesses indivíduos. Esta pesquisa investigou a expressão dos genes IL10 (interleucina 10), IL10RA, IL10RB (receptores Alfa e Beta da IL-10), JAK1 (janus-quinase 1), STAT3 (transdutor de sinal e ativador da transcrição 3), SOCS3 (supressor de sinalização de citocina 3), IP10 (proteína 10 induzível por interferon gama) e ICAM1 (molécula de adesão intercelular 1) em indivíduos com Síndrome de Down com Doença Periodontal e sem DP em relação a indivíduos sem SD com e sem DP. Fizeram parte deste estudo 80 indivíduos entre 6 e 61 anos de idade subdivididos em 4 grupos: Síndrome de Down com Doença Periodontal (SDcDP); indivíduos com SD sem DP (SDsDP); indivíduos não-sindrômicos com DP (CcDP) e indivíduos não-sindrômico sem DP (CsDP). A expressão gênica foi investigada por meio de quantificação relativa utilizando a técnica da reação em cadeia da Polimerase (PCR) em Tempo Real com o sistema Sybr Green. Obteve-se como resultado uma superexpressão do gene IL10 em indivíduos não-sindrômico com DP e uma menor expressão em indivíduos com SD. Nos indivíduos com SD houve uma superexpressão do IL10RB. Observou-se que os genes SOCS3, IP10 e ICAM1 foram responsivos à IL10. Portanto, a SD interfere na sinalização da IL10, causando assim uma imunodeficiência nesses indivíduos e a DP proporciona uma maior sinalização da IL10 gerando um processo antiinflamatório. / Many periodontopathogens can colonize the oral cavity early in individuals with Down syndrome (DS). This reflects the high prevalence (40%) of periodontal disease (PD) in adolescents with DS and affects nearly 100% of these individuals when they are around 30 years old. The severe periodontal destruction that occurs in these individuals cannot be explained by poor oral hygiene alone. This study investigated individuals with DS and PD and individuals with DS without PD regarding the expression of the genes IL10 (interleukin 10), IL10RA, IL10RB (IL-10 alpha and beta receptors), JAK1 (janus kinase), STAT3 (signal transducer and activator of transcription 3), SOCS3 (suppressor of cytokine signaling 3), IP10 (gamma interferon-induced protein) and ICAM1 (intercellular adhesion molecule-1). Eighty individuals aging from 6 to 61 years of age participated in this study and were divided into 4 groups: Down syndrome with periodontal disease (DSwPD); Down syndrome without periodontal disease (DSoPD); individuals without Down syndrome (control) with PD (CwPD) and control without PD (CoPD). Gene expression was investigated by relative quantification using the real-time polymerase chain reaction technique (Real-time PCR) with the system Sybr Green. A superexpression of the gene IL10 was found in individuals with PD and a smaller expression in individuals with DS. A superexpression of IL10RB was found in individuals with DS. The genes SOCS3 and ICAM1 were responsive to IL10. Therefore, DS interferes in IL10 signaling thus causing an immune deficiency in these individuals and PD promotes greater IL10 signaling, generating an anti-inflammatory process.

Orientador: Raquel Mantuaneli Scarel Caminaga / Banca: Elisa Maria Aparecida Giro / Banca: Sérgio Roberto Peres Line / Resumo: Vários periodontopatógenos podem colonizar muito precocemente a cavidade bucal de indivíduos com Síndrome de Down (SD). Isso reflete a alta prevalência (40%) de Doença Periodontal (DP) em adolescentes com SD, que evolui para cerca de 100% em indivíduos com idade próxima aos 30 anos. A higienização oral deficiente dos indivíduos com SD não é capaz de isoladamente explicar a destruição periodontal severa nesses indivíduos. Esta pesquisa investigou a expressão dos genes IL10 (interleucina 10), IL10RA, IL10RB (receptores Alfa e Beta da IL-10), JAK1 (janus-quinase 1), STAT3 (transdutor de sinal e ativador da transcrição 3), SOCS3 (supressor de sinalização de citocina 3), IP10 (proteína 10 induzível por interferon gama) e ICAM1 (molécula de adesão intercelular 1) em indivíduos com Síndrome de Down com Doença Periodontal e sem DP em relação a indivíduos sem SD com e sem DP. Fizeram parte deste estudo 80 indivíduos entre 6 e 61 anos de idade subdivididos em 4 grupos: Síndrome de Down com Doença Periodontal (SDcDP); indivíduos com SD sem DP (SDsDP); indivíduos não-sindrômicos com DP (CcDP) e indivíduos não-sindrômico sem DP (CsDP). A expressão gênica foi investigada por meio de quantificação relativa utilizando a técnica da reação em cadeia da Polimerase (PCR) em Tempo Real com o sistema Sybr Green. Obteve-se como resultado uma superexpressão do gene IL10 em indivíduos não-sindrômico com DP e uma menor expressão em indivíduos com SD. Nos indivíduos com SD houve uma superexpressão do IL10RB. Observou-se que os genes SOCS3, IP10 e ICAM1 foram responsivos à IL10. Portanto, a SD interfere na sinalização da IL10, causando assim uma imunodeficiência nesses indivíduos e a DP proporciona uma maior sinalização da IL10 gerando um processo antiinflamatório. / Abstract: Many periodontopathogens can colonize the oral cavity early in individuals with Down syndrome (DS). This reflects the high prevalence (40%) of periodontal disease (PD) in adolescents with DS and affects nearly 100% of these individuals when they are around 30 years old. The severe periodontal destruction that occurs in these individuals cannot be explained by poor oral hygiene alone. This study investigated individuals with DS and PD and individuals with DS without PD regarding the expression of the genes IL10 (interleukin 10), IL10RA, IL10RB (IL-10 alpha and beta receptors), JAK1 (janus kinase), STAT3 (signal transducer and activator of transcription 3), SOCS3 (suppressor of cytokine signaling 3), IP10 (gamma interferon-induced protein) and ICAM1 (intercellular adhesion molecule-1). Eighty individuals aging from 6 to 61 years of age participated in this study and were divided into 4 groups: Down syndrome with periodontal disease (DSwPD); Down syndrome without periodontal disease (DSoPD); individuals without Down syndrome (control) with PD (CwPD) and control without PD (CoPD). Gene expression was investigated by relative quantification using the real-time polymerase chain reaction technique (Real-time PCR) with the system Sybr Green. A superexpression of the gene IL10 was found in individuals with PD and a smaller expression in individuals with DS. A superexpression of IL10RB was found in individuals with DS. The genes SOCS3 and ICAM1 were responsive to IL10. Therefore, DS interferes in IL10 signaling thus causing an immune deficiency in these individuals and PD promotes greater IL10 signaling, generating an anti-inflammatory process. / Mestre

A síndrome de Down (SD) é a anomalia genética mais comum em seres humanos e acomete todas as etnias e níveis socioeconômicos. Esta síndrome também se manifesta na cavidade bucal dos indivíduos, alterando tecidos moles e duros, a constituição salivar e a microbiologia oral. Em relação à cárie dentária, muitos estudos na literatura avaliaram a experiência desta doença nas pessoas com SD, mas os resultados são conflitantes. Enquanto a maioria dos trabalhos reportou uma menor experiência de cárie nas pessoas com a síndrome comparadas a indivíduos não sindrômicos, outros estudos não mostraram diferença. Assim, três estudos foram conduzidos para elucidar algumas controvérsias. O primeiro estudo foi uma revisão sistemática de literatura que teve como objetivo determinar se existem ou não diferenças na experiência de cárie entre pessoas com e sem SD. Foram incluídos 13 artigos para extração dos dados. Entretanto, devido à baixa qualidade metodológica de todos os estudos, concluiu-se que não existe evidência cientifica para suportar a hipótese que pessoas com SD apresentem menor experiência de cárie do que indivíduos não sindrômicos. O segundo estudo teve caráter observacional e transversal e foi conduzido com131 crianças entre 6 e 12 anos de idade (60 com SD e 71 sem SD). Foram verificados os índices de placa (IP), índice de sangramento gengival (ISG), experiência de cárie e quantificação salivar Streptococcus mutans (S. mutans). Questionários que incluíram hábitos de escovação, dieta e renda dos participantes foram realizados. A experiência de cárie foi similar entre os dois grupos. Os IP e ISG foram menores nas crianças com SD e isto foi associado a uma maior supervisão dos pais ou responsáveis durante a escovação. Significativamente mais crianças com SD tiveram altas contagens salivares de S. mutans. O estudo concluiu que crianças com e sem SD da mesma faixa-etária apresentam experiência de cárie similar. Entretanto, crianças com SD frequentemente apresentam maiores contagens salivares de S. mutans do que crianças sem a síndrome. Além disso, crianças com SD que têm escovação supervisionada por pais ou cuidadores apresentam menores índices de placa e sangramento gengival. O terceiro estudo foi observacional laboratorial conduzido com o objetivo de avaliar a diversidade genotípica de S. 5 mutans e a acidogenicidade de diferentes genótipos deste microrganismo em crianças com e sem SD. Dezessete crianças (9 com SD e 8 sem SD) com altas contagens salivares de S. mutans foram selecionadas. Elas foram divididas em dois grupos: livres de cárie e com alta experiência de cárie. Isolados de S. mutans foram obtidos de cada paciente e 99 cepas (50 de SD e 49 sem SD) foram confirmadas utilizando PCR. Por meio de AP-PCR, observaram-se os diferentes perfis genotípicos. A acidogenicidade de uma cepa representativa para cada genótipo obtido foi avaliada. As crianças com SD tiveram uma menor diversidade genotípica de S. mutans do que as crianças sem a síndrome, e os genótipos avaliados das crianças com SD foram significativamente menos acidogênicos do que nas crianças sem síndrome. O estudo concluiu que crianças com SD apresentam genótipos de S. mutans menos acidogênicos quando comparados aos de crianças sem a síndrome. Os resultados dos trabalhos realizados permitem concluir que: não existem evidências científicas que suportem a hipótese que pessoas com SD apresentem menor experiência de cárie do que indivíduos sem a síndrome; pessoas com SD apresentam experiência de cárie similar a pessoas sem a síndrome; existe uma maior frequência de crianças com SD que apresentam altas contagens salivares de S. mutans do que crianças sem a síndrome; crianças com SD que têm escovação supervisionada por pais ou cuidadores apresentam menores índices de placa e sangramento gengival; os genótipos de S. mutans encontrados na cavidade bucal de crianças com SD são menos acidogênicos do que os das crianças sem síndrome. / Down Syndrome (DS) is the most common genetic anomaly in human, affecting all ethnicities and socioeconomic levels. The syndrome has also manifestations in the oral cavity of the subjects, altering soft and hard tissues, salivary constitution and oral microbiology. Regarding dental caries, previous studies have found conflicting results when evaluating the caries experience in DS subjects. While the majority of researchers reported a lower caries experience in DS versus non-DS subjects, other studies did not find difference. In order to elucidate the controversies, three studies were conducted. The first study was a systematic review with the aim of determining if there was difference in the caries experience in DS and non-DS subjects. In total, 13 articles were included for data extraction. However, due to the low methodological quality of all the studies, it was concluded that there was no scientific evidence to support the hypothesis that DS subjects have a lower caries experience than non-DS subjects. The second study was observational and cross-sectional and was performed with 131 children aged between 6-12 (60 with DS and 71 non-DS). The plaque index (PI), gingival bleeding index (GBI), caries experience and salivary Streptococcus mutans (S. mutans) quantification were investigated. Questionnaires that included tooth brushing habits, diet and income of the subjects were performed. Caries experience was similar in both groups. PI and GBI were lower in DS subjects, what was associated with a higher parental/caregiver supervision. Significantly more children with DS had high salivary counts of S. mutans. The study concluded that children with and without DS of the same age range have similar caries experience. However, children with DS often have higher salivary counts of S. mutans than children without the syndrome. In addition, children with DS who have tooth brushing supervised by parents or caregivers have lower PI and GBI. The third study was laboratory observational aimed to evaluate the S. mutans genotypical diversity and the associated acidogenicity in DS and non-DS children. Seventeen children (9 DS and 8 non-DS) with high salivary counts of S. mutans were selected and divided in two groups: caries-free and high caries experience. S. mutans isolates were obtained from each subject and 99 strains (50 in DS and 7 49 in non-DS) were confirmed through PCR. Different genotypical profiles were observed through AP-PCR technique. The acidogenicity of a representative strain from each genotype was analysed. DS children presented a lower S. mutans genotypical diversity than non-DS children. Moreover, the DS genotypes were significantly associated with less acidogenic than non-DS. The study concluded that children with DS present less acidogenic S. mutans genotypes when compared to children without the syndrome. In summary, the results of this studies allow conclude that: DS subjects have a similar caries experience than non-DS subjects; a significant higher frequency of DS children have higher S. mutans salivary counts than children without the syndrome; children with DS who have tooth brushing supervised by parents or caregivers have lower PI and GBI; the genotypes of S. mutans found in the oral cavity of children with DS are less acidogneic than those of children without the syndrome.

abstract: Specific dendritic morphologies are a hallmark of neuronal identity, circuit assembly, and behaviorally relevant function. Despite the importance of dendrites in brain health and disease, the functional consequences of dendritic shape remain largely unknown. This dissertation addresses two fundamental and interrelated aspects of dendrite neurobiology. First, by utilizing the genetic power of Drosophila melanogaster, these studies assess the developmental mechanisms underlying single neuron morphology, and subsequently investigate the functional and behavioral consequences resulting from developmental irregularity. Significant insights into the molecular mechanisms that contribute to dendrite development come from studies of Down syndrome cell adhesion molecule (Dscam). While these findings have been garnered primarily from sensory neurons whose arbors innervate a two-dimensional plane, it is likely that the principles apply in three-dimensional central neurons that provide the structural substrate for synaptic input and neural circuit formation. As such, this dissertation supports the hypothesis that neuron type impacts the realization of Dscam function. In fact, in Drosophila motoneurons, Dscam serves a previously unknown cell-autonomous function in dendrite growth. Dscam manipulations produced a range of dendritic phenotypes with alteration in branch number and length. Subsequent experiments exploited the dendritic alterations produced by Dscam manipulations in order to correlate dendritic structure with the suggested function of these neurons. These data indicate that basic motoneuron function and behavior are maintained even in the absence of all adult dendrites within the same neuron. By contrast, dendrites are required for adjusting motoneuron responses to specific challenging behavioral requirements. Here, I establish a direct link between dendritic structure and neuronal function at the level of the single cell, thus defining the structural substrates necessary for conferring various aspects of functional motor output. Taken together, information gathered from these studies can inform the quest in deciphering how complex cell morphologies and networks form and are precisely linked to their function. / Dissertation/Thesis / Ph.D. Neuroscience 2013

Background: Down syndrome is the most common chromosomal abnormality in Sweden. Around 120 to 140 children with Down syndrome are born annually in Sweden. There is a lack of studies that examine how parents of children with Down syndrome experience the interactions with healthcare personnel.   Aim: The aim of this study was to illustrate how parents of children with Down syndrome experienced the encounters with healthcare personnel during the child’s first year, based on a family centered perspective.   Method: A literature study was done using 13 original articles from different countries. They were chosen through Pubmed. These were reviewed and processed into four categories. Joyce Travelbee’s nursing theory, as well as family centered care was used as frame of reference.   Result: A majority of the families in this study described negative experiences of interactions with healthcare personnel. Families experienced that they did not receive adequate emotional support. They lacked information about Down syndrome and the information they received was described as being too negative and unbalanced. Parents also described a lack of contact information to support groups and other institutions in the society. They also experienced that the health care did not notice their children's potential nor had the knowledge about the conditions for people with Down syndrome in the society.   Conclusion: Parents mostly have a negative experience of the health care when theyhave a child with Down syndrome. The healthcare primarily has to see to the new born child, congratulate the parents to a new member of the family before focus on the diagnosis. Thereafter, the health care should give a balanced information in an early stage regarding the family’s and the baby’s needs and provide the family with emotional support. The nurse has an important part to fill from a family centered perspective.

A intenção desta pesquisa foi a de construir subsídios para o estudo do lugar a partir da ótica de alunos com SD, sob a perspectiva de seus diversos indicadores cotidianos. Considerando-se que há uma ausência de estudos nesse âmbito e, principalmente, na área do ensino em Geografia, esta peculiaridade tornou-se, um estímulo a mais para que este trabalho se realizasse. Compreender o lugar no qual se está inserido nos leva a conhecer a história do lugar e, dessa forma, compreender o que ali ocorre. Nesta conjuntura, o ensino de Geografia ligado a meios midiáticos e tecnológicos e direcionado a alunos com SD, em relação ao estudo do lugar de pertencimento, possibilita inúmeras formas de aprendizagem através de uma “geoconexão”, permitindo que informações geográficas conectem-se aos conteúdos e abram espaços de relação entre o virtual e o real, concretizando inclusões entre a Geografia ideal, a real e a possível de se construir no mundo contemporâneo onde todos os conhecimentos interagem entre si, onde todas as áreas do saber se encontram e onde a criatividade de quem aprende extrapola o livro e o caderno, sob um universo globalizado. O processo metodológico desta pesquisa ocorreu através de atividades pedagógicas desenvolvidas com os alunos com SD e realizou-se em três etapas, a saber: 1) Textual-Descritiva; 2) Produção de Histórias em Quadrinho com figuras pré-selecionadas; e, 3) Produção de uma atividade em computador usando o programa Power Point, imagens da cidade de Porto Alegre e produção textual. Além disso, o diálogo e a proximidade com os outros docentes despertaram o interesse da pesquisadora pela escuta dos docentes envolvidos no processo de ensino através de uma entrevista informal. Posteriormente à análise dos dados, verificou-se que o lugar onde os alunos com SD se percebem e percebem o seu próprio lugar no mundo através de sua identidade subjetiva, proporciona uma leitura do mundo destes alunos no espaço real e virtual de Porto Alegre. Desse modo, os lugares por eles referenciados estão intimamente ligados a história de cada um, e, desta forma, até mesmo sem perceberem, eles enfatizaram durante o processo desta pesquisa, a sua existência não apenas em um determinado lugar, mas, em um mundo que é vivido tanto no ambiente virtual quanto real, à nível individual e social, que representa a história de cada um, onde os signos e significados do lugar são caracterizados pelo sentimento de pertencimento do ser humano. / The intention of this research was to build subsidies for the study of the place from the perspective of students with Down syndrome, from the perspective of its various indicators daily. Considering that there is a lack of studies in this area and especially in the area of teaching in geography, this peculiarity has become a stimulus to which this work is accomplished. Understand the place in which it is inserted leads us to know the history of the place and thus understand what happens there. In this way, the Geography teaching linked to media and technologic sources and directed to students with DS, worried about the study of the belonging place, generates several ways of learning through a “geoconnection”, allowing that geographical information get together to the contents and open spaces of relation between the real and the virtual, promoting inclusions among the ideal Geography, the real one and the possible one that can be built in our contemporary world where all knowledge is connected to the other, where all awareness fields meet and where the learner‟s creativity goes beyond the book and the notebook, involved in a globalized universe. The methodological process of this research took place through pedagogical activities developed with the students with DS and had three steps: 1) Descriptive-textual; 2) Production of cartoon stories with pre-determined pictures; and 3) Production of an activity in the computer using Power Point program, pictures of Porto Alegre city and text production. Besides that, the dialogue and the closeness to the other teachers increased the interest of the researcher to the opinions of the educators involved in the learning process through an informal interview. After the data analysis, we verified that the place where the students with DS realize and realize their own place in the world through their subjective perspective provides them a reading of the world in the real and virtual space of Porto Alegre. Because of that, the places referred by them are closely connected to their own stories and, for this reason, without they realize it, they have confirmed during the process of this research, their existence not just in a determined place, but, in a world that is lived as much as in a virtual space as real, in a social and individual grade, that represents the story of each one, where the signs and meanings of place are characterized by the sense of belonging of the human being.

Orientador: Maria Irma Hadler Coudry / Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Estudos da Linguagem / Made available in DSpace on 2018-08-16T22:00:41Z (GMT). No. of bitstreams: 1 Ghirello-Pires_CarlaSalatiAlmeida_D.pdf: 8350925 bytes, checksum: c59c67c66fc682717cb565e3964b4fdf (MD5) Previous issue date: 2010 / Resumo: Esta tese apresenta e analisa o acompanhamento fonoaudiológico longitudinal de duas crianças com Síndrome de Down: ML e AM. Objetiva compreender a relação estabelecida entre linguagem oral e escrita no início dessas crianças do mundo das letras. Buscou-se identificar como os sujeitos da pesquisa adquiriram autonomia na fala por meio da mediação considerando, para tanto, o papel do outro/interlocutor. No início desse processo, a escrita funcionou como sustentação da materialidade da fala e, posteriormente, ganhou corpo como uma nova possibilidade de linguagem. Este trabalho tem ancoragem teórica na Neurolinguística Discursiva que concebe a linguagem, sintaticamente, como indeterminada e heterogênea, e semanticamente, humana, como lugar de interação e de interlocução em uma relação dinâmica e constitutiva entre sujeitos. A análise dos dados foi feita com base no conceito de dado-achado, produzido no momento da interação, e, no momento da análise, como um achado acionado pela teorização. No início do trabalho, observou-se que ML e AM apresentavam diferenças significativas em relação à oralidade indicando uma discrepância em relação à fala e seu funcionamento. Este fato, porém, não foi impeditivo e nem demarcou diferenças significativas em relação à leitura e à escrita. Além disso, constatou-se que os processos intermediários de significação realizados por essas crianças para domínio do sistema alfabético se estendessem por um tempo maior do que o esperado em relação às crianças tidas como normais e da mesma idade. Os sujeitos demonstraram avanços significativos em relação ao domínio e à autonomia na escrita, devido à mediação e à intervenção do adulto ao materializar e dar visibilidade à suas dificuldades com desafios a serem avançados com segurança, respeitando o ritmo e a individualidade. No final do trabalho, essas crianças, que não sabiam ler e nem escrever, demonstraram certa autonomia nesse domínio que, no entanto, necessita de acompanhamento para um avanço contínuo / Abstract: This research presents and analyzes the development of the speech of two children with Down syndrome: named as M.L. and A.M. It aims to understand the children's conception between oral and written language. It searches to identify how the subjects acquire speech autonomy considering an adult's interference. At the beginning of the process, the writing was a support of the materiality of speech, and later on as a new possibility of language. This work has basis on the foundations of Discursive Neurolinguistics theories that conceive language, syntactically, as indeterminate and heterogeneous, semantically, human, as a place of interaction and dialogue in a dynamic and constitutive relationship between subjects. Data analysis was based on the concepts of interaction theory. In early work, the children showed oral differences indicating a discrepancy in relation to speech and its functioning. That fact, however, was not relevant and did not cause meaningful differences to reading and writing processes. It took a longer period to achieve the results than expected comparing to children conceived as normal and with the same age. The subjects showed significant improvements in writing autonomy, caused by adults' intervention in order to materialize and to recognize their difficulties with challenges, respecting their rhythm and individuality. At the end of the study, the children who could neither read nor write have shown some independence requiring supervision for continuous development / Doutorado / Neurolinguistica / Doutor em Linguística