Made available in DSpace on 2014-12-17T15:39:02Z (GMT). No. of bitstreams: 1 RosaliaCLF_DISSERT.pdf: 7248091 bytes, checksum: 78f0c88f129b94ac237649d5f3159584 (MD5) Previous issue date: 2013-07-03 / Coordena??o de Aperfei?oamento de Pessoal de N?vel Superior / This research aimed to contribute to the characterization of a neuropsychological phenotype of adolescents with Down Syndrome (DS). A multicases study of six adolescents (three males and three females, aged 13 to 14 years) diagnosed with DS and treated at two institutions in the city of Natal (Brazil), was conducted. Participants were assessed using the methodological approach developed by Luria, which is composed by four complementary stages. The first one aimed to investigate the qualitative impact of DS in school life and social development of the adolescents; dimensions of behavior and social-affective aspects of the members of the study were investigated. In the second stage participants performed a battery of neuropsychological tests in order to identify strengths and weaknesses in their cognitive functioning. The third stage was incorporated into the second in order to analyze the quality of the activity of the participants along the quantitative evaluation, highlighting strategies used, errors produced among other indicators. Lastly, the fourth stage refers to the intervention with the participants. Although this is not a specific objective of the study, it is argued that the outcome of this research will subsidize the practice of different professionals working with this clinical group. The results of the first stage emphasized the presence of difficulties in social relationships and in school life of observed adolescents. In turn, the second and third stages pointed out to the presence of difficulties in tasks involving logical and abstract thinking, as well as difficulties in expressive language. In relation to visual memory, we observed a better performance in activities of lower complexity, ie, with less interference of executive functioning, particularly in terms of the functions of planning and initiative. Finally, it was found motor and mental retardation, affecting significantly the performance related to different cognitive areas. The results highlighted here can be considered as subsidies for future interventions, suggesting the need for developping projects that take into account different aspects constituents of the human subject, involving not only the individual with developmental changes, as well as their families, teachers, schools and society in general / A presente pesquisa teve como objetivo contribuir para a caracteriza??o de um fen?tipo neuropsicol?gico de adolescentes com S?ndrome de Down (SD). Foi realizado um estudo multicasos de seis adolescentes diagnosticados com SD, sendo tr?s do sexo masculino e tr?s do sexo feminino, na faixa et?ria de 13 e 14 anos, atendidos em duas institui??es da cidade de Natal. Os participantes foram avaliados a partir da metodologia desenvolvida por Luria, sendo esta constitu?da de quatro etapas complementares. A primeira teve como objetivo a investiga??o qualitativa do impacto da SD no cotidiano escolar e social dos adolescentes. Foram investigadas as dimens?es do comportamento e dos aspectos s?cio-afetivos dos integrantes do estudo. Na segunda etapa, os participantes realizaram uma bateria de testes neuropsicol?gicos com o intuito de identifica??o de pontos fortes e fragilidades em seu funcionamento cognitivo. A terceira etapa foi incorporada ? segunda e teve como objetivo central analisar a qualidade da atividade dos participantes ao longo da avalia??o quantitativa, destacando estrat?gias utilizadas, erros produzidos dentre outros indicadores. Por fim, a quarta etapa refere-se ? interven??o junto aos participantes. Apesar desta n?o ser um objetivo espec?fico do estudo, defende-se que o resultado final desta pesquisa subsidiar? a pr?tica significativa de diferentes profissionais que atuam junto a este grupo cl?nico. Os resultados da primeira etapa ressaltam a presen?a de dificuldades nos relacionamentos sociais e no cotidiano escolar deste subgrupo. Por sua vez, as etapas dois e tr?s apontam para a presen?a de dificuldades em tarefas que envolvem o pensamento l?gico e abstrato, bem como preju?zos significativos na linguagem expressiva. Em rela??o ? mem?ria visual, observou-se um desempenho melhor em atividades de menor complexidade, ou seja, com menos interfer?ncia do funcionamento executivo, notadamente em termos das fun??es de planejamento e iniciativa. Por fim, destaca-se a presen?a de lentifica??o motora e mental, repercutindo significativamente no desempenho de diferentes ?reas cognitivas. Nesse sentido, os resultados aqui destacados podem ser considerados enquanto subs?dios para interven??es futuras, sugerindo a necessidade do desenvolvimento de projetos que levem em considera??o os diferentes aspectos constituintes do sujeito humano, envolvendo n?o apenas o indiv?duo com altera??es desenvolvimentais, como tamb?m suas fam?lias, professores, escolas e a sociedade em geral

O conhecimento das características funcionais da Síndrome de Down (SD) é importante para a ciência odontológica, pois indivíduos com SD apresentam alterações craniofaciais e dentárias que alteram o desempenho do sistema estomatognático. O objetivo deste estudo foi determinar padrões de referência da força de mordida molar direita (FMMD) e esquerda (FMME) máximas de indivíduos com SD analisando a influência da idade, além de compará-los com indivíduos sem síndrome de Down. A abertura bucal, estalo na ATM, ranger dos dentes (sono e vigília) foram avaliados nos indivíduos com SD. Participaram 100 indivíduos com SD que foram distribuídos em quatro grupos: crianças entre 8 e 12 anos (GSDI, n=28); adolescentes entre 13 e 20 anos (GSDII, n=30); adultos jovens entre 21 e 40 anos (GSDIII, n=29) e adultos entre 41 e 60 anos (GSDIV, n=13). Os GSD (I, II, III e IV) foram pareados sujeito a sujeito com seus respectivos controles sem síndrome (GCI, GCII, GCIII e GCIV) por idade, gênero e IMC. Os registros da FMMD e FMME foram captados pelo dinamômetro digital. O estalo sem dor (ESD), ranger dos dentes no sono (RS) e na vigília (RV) foram analisados por meio de questionário anamnésico. A abertura sem auxílio e sem dor (A), abertura máxima sem auxílio (MSA) e abertura máxima com auxílio (MCA) foram mensuradas por régua milimétrica. Os dados de FMM máximas, abertura bucal foram tabulados e submetidos à análise estatística (SPSS 22.0, p ≤0,05). Os dados de ESD, RS e RV em indivíduos com SD foram demonstrados em valores percentuais. Houve diferença estatística significante (ANOVA, p ≤ 0,05) para FMME no GSD ao longo dos anos (p=0,00) registrando maior força para o GSDII. Na comparação dos Grupos etários com os Grupos controles houve diferença estatística significante (teste t de student, p ≤ 0,05) para FMMD: GSDII X GCII (p=0,00), GSDIII X GCIII (p=0,00), GSDIV X GCIV (p=0,00) e FMME: GSDI X GCI (p=0,00), GSDII X GCII (p=0,00), GSDIII X GCIII (p=0,00) e GSDIV X GCIV (p=0,00). As FMMD e FMME dos Grupos etários com SD foram menores quando comparados aos GC (I, II, III e IV). Na abertura bucal ocorreu diferença estatística significante (ANOVA, p ≤ 0,05) ao longo dos anos: A (p=0,00), MSA (p=0,00) e MCA (p=0,00) com maior A no GSDII e maior MSA e MCA no GSDIII. O GSDIII apresentou maior valor percentual de ESD e RDV e o GSDI maior de RDS. Os resultados deste estudo determinaram padrões referenciais de FMM ao longo dos anos em indivíduos com SD, com maior força para os adolescentes, diminuição gradual durante o envelhecimento, menor força máxima quando comparado aos indivíduos sem síndrome, influência da idade na abertura bucal e presença de ESD, RS e RV. / Knowledge of the functional characteristics of Down Syndrome (DS) is important for dental science, since individuals with DS present craniofacial and dental alterations that alter the performance of the stomatognathic system. The aim of this study was to determine reference patterns of maximal right (RMBF) and left (LMBF) molar bite force of SD individuals by analyzing the influence of age, as well as comparing them with healthy individuals. The mouth opening, clicking in the TMJ, teeth grinding (sleep and wakefulness) were evaluated in individuals with DS. A total of 100 individuals with DS were divided into four groups: children aged 8 to 12 years (DSGI, n = 28); Adolescents between 13 and 20 years old (DSGII, n = 30); Young adults aged between 21 and 40 years (DSGIII, n = 29) and adults between 41 and 60 years (DSGIV, n = 13). GDSs (I, II, III and IV) were paired subject to their respective healthy controls (CGI, CGII, CGIII and CGIV) by age, gender and BMI. RMBF and LMBF records were captured by the digital dynamometer. The painless popping (PP), teeth grinding in sleep (GS) and wakefulness (W) were analyzed by means of an anamnestic questionnaire. The pain free opening (PFO), maximum unassisted opening (MUO), maximum assisted opening (MAO) mouth opening were measured by millimeter rule. Maximum MBF data, mouth opening were tabulated and submitted to statistical analysis (SPSS 22.0, P≤0.05). The PP, GS and W data in individuals with SD were demonstrated in percentage values. There was a statistically significant difference (ANOVA, P ≤ 0.05) for LMBF in GDS over the years (P = 0.00), registering the highest force for DSGII. In the comparison between age groups and control groups without SD, there was a significant statistical difference (Student t test, P ≤ 0.05) for RMBF: DSGII X CGII (P = 0.00), DSGIII X CGIII (P = 0.00), DSGIV X CGIV (P = 0.00) and LMBF: DSGI X CGI (P = 0.00), DSG II X CGII (P = 0.00), DSGIII X CGIII (P = 0.00) and DSGIV X CGIV (P = 0.00). The RMBF and LMBF of the age groups with SD were smaller when compared to the CG (I, II, III and IV). In the mouth opening, there was a significant statistical difference (ANOVA, P ≤ 0.05) over the years: PFO (p = 0.00), MUO (P = 0.00) and MAO (P = 0.00) In DSGII and higher MUO and MAO in DSGIII. The DSGIII had the highest percentage of PP and W and the highest DSGI of GS. The results of this study determined reference patterns of MBF over the years in individuals with DS, with greater strength in adolescents, gradual decrease during aging, lower maximum strength when compared to healthy individuals, influence of age on mouth opening and presence of PP,GS and W.

A pesquisa de marcadores ultrassonográficos no segundo trimestre da gestação, após rastreamento combinado no primeiro, parece elevar substancialmente as taxas de detecção de Síndrome de Down, mas está amparada na assunção não comprovada de independência entre esses testes. O presente estudo investigou a relação entre a translucência nucal e uma série de marcadores ultrassonográficos no segundo trimestre. A medida da translucência nucal no primeiro trimestre era seguida pela realização da ultrassonografia morfológica entre 18 a 23 semanas e 6 dias de gestação, incluindo a pesquisa de três marcadores qualitativos (foco ecogênico intracardíaco, intestino hiperecogênico e defeito estrutural) e as medidas do osso nasal, da prega nucal, do comprimento do úmero, do comprimento do fêmur, do diâmetro anteroposterior das pelves renais e da espessura pré-nasal. Todas as variáveis contínuas foram expressas em múltiplos da mediana para a idade gestacional e os coeficientes de correlação entre a translucência nucal e essas variáveis (após transformação logarítmica) foram calculados. Em seguida, as frequências de marcadores clássicos no segundo trimestre, em casos com translucência nucal normal, foram comparadas àquelas com translucência nucal aumentada, usando pontos de corte definidos em múltiplos da mediana. Em população prospectiva de 1970 casos, a translucência nucal se correlacionou significativamente com todas as variáveis ultrassonográficas do segundo trimestre, em particular, com a prega nucal (r=0.10). Houve frequência significativamente maior de casos com prega nucal aumentada (10,7 versus 2,2%), definida como valor (em MoMs) acima do percentil 97,5, e intestino hiperecogênico (2,4% versus 0,1%) em casos com translucência nucal aumentada. Concluindo, a utilização de razões de verossimilhança baseadas na presença, ou ausência, de marcadores ultrassonográficos no segundo trimestre para modificar o risco calculado, no primeiro trimestre, poderia deteriorar a precisão das estimativas. Técnicas multivariadas por meio de marcadores ultrassonográficos quantitativos seriam opção mais adequada para a implantação de estratégias de rastreamento sequenciais / Genetic sonogram following first trimester combined screening appears to substantially increase detection rates for Down syndrome but it relies on the unproved assumption of independence between these tests. In this study we have investigated the relation of first trimester nuchal translucency to a series of secondtrimester soft markers. Nuchal translucency (NT) measurement in the first trimester was followed by second trimester scan (18-23w+6 days) including search for three categorical soft-markers (intracardiac echogenic foci, hyperechogenic bowel and structural defects) and measurements of nasal bone length, nuchal fold thickness, femur length, humerus length, renal pelvices diameter and prenasal thickness. All continuous variables were expressed in multiples of the medians for gestation (MoMs) and correlation coefficients between log-transformed NT and second trimester variables were calculated. In addition, frequencies of classical soft-markers in cases with increased NT were compared to those with normal NT, using MoMs cutoffs. In a dataset of 1970 cases, NT was significantly correlated (p<0.05) to all second trimester continuous variables, in particular to nuchal fold thickness (r=0.10). There was a higher frequency of cases with second trimester nuchal fold thickness above the 95th centile (10.7% versus 2.2%) and hyperechogenic bowel (2.4% versus 0.1%) in cases with increased NT. In conclusion, straightforward reassessment of risk using likelihood ratios derived from the classical genetic sonogram might lead to inaccurate estimates. Multivariate models using continuous second-trimester variables might be preferable in sequential screening strategies

O objetivo do trabalho foi avaliar as alterações comportamentais e fisiológicas durante a remoção de tecido cariado através dos métodos mecânico e químico-mecânico (CARISOLV TM ), sob anestesia local com lidocaína a 2% sem vasoconstritor, em crianças com Síndrome de Down. O estudo foi realizado em 20 crianças ASA I, sendo 10 crianças com Síndrome de Down (grupo experimental) e 10 crianças “normais” (grupo controle), de 5 a 12 anos de idade. Foram realizadas avaliações comportamentais, através do índice de Venham modificado e mensurações automáticas (Criticaire System® - Scholar II) dos seguintes parâmetros fisiológicos: freqüência cardíaca, pressão arterial sistólica, pressão arterial diastólica e saturação de oxigênio, e comparados aos valores basais. A avaliação dos parâmetros comportamentais e fisiológicos ocorreram em 5 fases: (1) 5 minutos antes da anestesia local; (2) durante a anestesia local; (3) durante a remoção do tecido cariado; (4) imediatamente após a restauração e (5) 5 minutos após o término do procedimento. A fase de remoção do tecido cariado apresentou a maior alteração comportamental e fisiológica para todas as variáveis analisadas, exceto para a saturação de oxigênio. Em relação à alteração comportamental não foram observadas diferenças estatisticamente significantes (significantes a 5 %)entre os tipos de tratamento para a remoção do tecido cariado em ambos os grupos. Em relação à freqüência cardíaca, houve diferença estatisticamente significante (significantes a 1 %) entre os grupos e o tipo de remoção do tecido cariado. Nas crianças “normais” (grupo controle) houve diminuição da freqüência cardíaca com a remoção químico-mecânica e aumento da freqüência cardíaca com a remoção mecânica do tecido cariado. Nas crianças com Síndrome de Down (grupo experimental) houve aumento da freqüência cardíaca com a remoção químico-mecânica e diminuição da freqüência cardíaca com a remoção mecânica do tecido cariado. Em relação à pressão arterial sistólica, não foram observadas diferenças estatisticamente significantes entre os grupos avaliados e o tipo de remoção do tecido cariado. Em relação à pressão arterial diastólica e saturação de oxigênio não houve diferença estatisticamente significante em relação ao tipo de remoção do tecido cariado. / The aim of this study was to assess the behavior and physiological alterations observed in Down Syndrome children during caries removal using the mechanical or the chemo-mechanical (Carisolv TM ) methods and a 2% lidocaine anesthesia without vasoconstrictor. The study was conducted in 20 ASA I children between 5 and 12 years of age, being 10 with Down Syndrome (experimental group) and 10 “normal” children (control group). Behavior alterations were observed using the modified Venham index. The following physiological parameters were measured automatically using a Criticaire System® - Scholar II: heart rate, systolic and diastolic blood pressure and oxygen saturation. The behavior and physiological assessment were performed in 5 stages of caries removal: (1) 5 minutes before local dental anesthesia; (2) during local dental anesthesia; (3) during caries removal; (4) immediately after restoration; and (5) 5 minutes after the end of the treatment. The physiological parameters observed during caries removal were compared to the child’s baseline measurements. The phase of caries removal showed the greatest alteration in the behavior and all physiological aspects, except for oxygen saturation. No significant difference was found in the behavior alterations between the two groups (p > 0.05). Statistically significant difference was observed between the groups and the caries removal method in relation to the heart rate (p < 0.01). In the control group (normal children), the heart rate decreased during the chemo-mechanical caries removal method and increased when only the mechanical method was used. In the Down Syndrome group (experimental group), the opposite occurred, heart rate increased when the chemo-mechanical method of caries removal was used and decreased with the mechanical method. No statistical significant difference was observed between the two groups of children and the two caries removal methods studied in relation to oxygen saturation and systolic and diastolic blood pressure.

Made available in DSpace on 2016-04-27T13:10:23Z (GMT). No. of bitstreams: 1 Carolina Barbosa Ribeiro.pdf: 1109798 bytes, checksum: 6de2cd2e3532771d51114ca0f62384f9 (MD5) Previous issue date: 2013-10-16 / The Down Syndrome is genetic and metabolic disturb that can affect the nutrition physic state and for this reason are necessary intervation and the nutritivon assessment for these people can have a best quality of ife in their growth and development. The aim has to assess the antropometrical states from 19 students with Down Syndrome that are treated at Associação de Pais e Amigos dos Excepcionais de Araras. Also were assessed the nutrition state of 14 members of the team, that are directly involved to the sudents´ food. Its was collected the weigh, high, together waist, hips and the skin measure. In relation to students, 16 are overweight in relation to curve de Cronk, all the students had índices higher in relation to waist and hips in relation the OMS and 18 students had a higher fat percentage in relation to Guedes. However, 8 members had a normal weight in relation to OMS, 8 members had normal índices to waist and hips in relation to OMS, 4 members had the normal fat percentage in relation Loham. It was made a questionnaire elaborated and validated by Guadagnin to check the knowledge of the team in respect of the healthy nutrition and it was administered a speech and it was held another test. The domínion that had the biggest percentage of rsucess was the domínion 4, where the Knowledge was about salt.The domain had lower percentage of success was the domain 2, where issues were related to perceptions of healthy eating. Was prepared a primer on healthy food delivered to staff, with the main focus of the teacher, which shall carry out the activities contained in the booklet along with the nutritionist. Until the completion of the thesis were five activities for a month. After these activities can be seen that 14 students are still overweight. According to the statistics made significant reduction in weight and body mass index of students, though most still overweight. For future work ideally working with parents (families) as they are the key influencers in food, and most have no knowledge of what is healthy eating and what consequences that a poor diet can cause especially in patients Down Syndrome / A Síndrome de Down é um distúrbio genético e metabólico, que pode afetar o estado nutricional, por essa razão, são necessárias avaliações e intervenções nutricionais para que esses indivíduos possam ter uma melhora na qualidade de vida, no crescimento e desenvolvimento. O objetivo foi avaliar o estado antropométrico dos 19 alunos portadores de Síndrome de Down atendidos na Associação de Pais e Amigos dos Excepcionais de Araras, unidade Escola. Também foi avaliado o estado nutricional de 14 membros da equipe que estão envolvidos com a alimentação desses alunos. Foram coletados peso, altura, relação cintura quadril e pregas cutâneas. Em relação aos alunos, 16 estão acima do peso de acordo com a curva de Cronk, todos os alunos apresentaram índices altos de relação cintura quadril, de acordo com a classificação da Organização Mundial de Saúde e 18 alunos apresentaram uma alta porcentagem de gordura de acordo classificação do protocolo de Guedes. Em relação a equipe, 8 membros apresentaram eutrofia ( peso adequado) de acordo com os pontos de cortes da Organização Mundial de Saúde, 8 membros apresentam índices normais em relação cintura quadril, de acordo com a classificação da Organização Mundial de Saúde e 4 membros da equipe apresentaram porcentagem de gordura adequada de acordo classificação de Lohman. Foi aplicado um questionário elaborado e validado por Guadagnin, para verificar o conhecimento da equipe em relação à alimentação saudável, após foi ministrada uma palestra e aplicado novamente o mesmo teste. O domínio que obteve maior porcentual de acerto, foi o domínio 4, onde as questões eram referentes ao conhecimento sobre o sal. O domínio que obteve menor porcentagem de acerto foi o domínio 2, onde as questões estavam relacionadas a percepção de alimentação saudável. Foi elaborada uma cartilha sobre alimentação saudável entregue a equipe, tendo o foco principal o professor, onde deverá realizar as atividades contidas na cartilha, juntamente com a nutricionista. Até a finalização da tese foram realizadas cinco atividades durante um mês. Após essas atividades pode observar que 14 alunos continuam acima do peso. De acordo com a estatística realizada houve diminuição de peso, e índice de massa corporal dos alunos, entretanto a maioria continua acima do peso. Para um trabalho futuro o ideal seria trabalhar com os pais (família), pois são os principais influenciadores na alimentação, sendo que a maioria não tem conhecimento do que é a alimentação saudável, e quais as consequências que uma má alimentação pode ocasionar principalmente em portadores de Síndrome de Down

Objetivo: Estudar a estruturação hierárquica da sintaxe em crianças com distúrbios de linguagem. Foram pesquisados os quadros de Distúrbio Específico de Linguagem (DEL), Distúrbios do Espectro Autístico (DEA) e Síndrome de Down (SD). O objetivo principal desta pesquisa foi avaliar e comparar a designação sintática estrutural, por meio da compreensão de sentenças com predicativos e pronomes reflexivos ligados a um substantivo não adjacente, de modo a testar a hipótese do Déficit de Ordenação Hierárquica (DOH). Essa hipótese postula que crianças com distúrbios de linguagem têm dificuldade em estabelecer relações não adjacentes (hierárquicas) entre os elementos de uma frase. Esta pesquisa também avaliou se uma demanda adicional de memória de trabalho, em construções contendo pronomes reflexivos, afeta a designação sintática estrutural em crianças com DEL, DEA e SD. Método: Sessenta e duas crianças falantes do Português Brasileiro (40 meninos e 22 meninas) entre 7; 0 e 14; 2 anos de idade participaram de dois estudos que investigaram a designação sintática de predicativo e de pronome reflexivo. O Estudo I comparou o desempenho de crianças com DEL e crianças com desenvolvimento típico de linguagem (DTL). O Estudo II comparou o desempenho de crianças com DEL, DEA, SD e seus pares com DTL. O experimento consistiu em uma tarefa computadorizada de compreensão de sentenças desenvolvida no software E-Prime. Cada criança respondeu a 72 ensaios apresentados aleatoriamente, de modo a evitar efeitos de ordem ou familiarização. Em cada ensaio, a criança foi apresentada a uma frase contextual (duração máxima de 5500 ms) e, após um intervalo entre estímulos de 1000 ms, a frase alvo (duração máxima de 5000 ms) e o estímulo visual (quatro figuras) foram apresentados simultaneamente. Resultados: No Estudo I, as crianças com DEL foram significativamente menos precisas em todas as condições. Diferentes distribuições de erro foram observadas nas duas condições de memória de trabalho. Ambos os grupos apresentaram mais erros acarretando em construções sintáticas incorretas na condição de longa demanda de memória de trabalho. No Estudo II, crianças com DEL, DEA e SD apresentaram pior desempenho quando comparadas às crianças com DTL. Os grupos DEA e SD apresentaram padrões de resposta semelhantes entre si em diferentes condições. As crianças com DEL apresentaram desempenho similar ao de crianças com DEA e SD apenas quando as demandas de memória de trabalho foram maiores. Conclusões: A hipótese DOH não foi confirmada. Crianças com DEL, DEA e SD se diferenciam de crianças com DTL na compreensão de sentenças com predicativos e reflexivos onde o conhecimento da designação sintática estrutural é necessário. Existem semelhanças entre as crianças com DEA e SD na compreensão destas estruturas. Diferentes efeitos de memória de trabalho na compreensão sintática são encontrados de acordo com o distúrbio de linguagem / Purpose: To study the hierarchical syntactic structuring in children with language disorders. The research involved children with Specific Language Impairment (SLI), Autism Spectrum Disorders (ASD), and Down Syndrome (DS). The main purpose of this dissertation was to examine and compare the syntactic structural assignment, through the comprehension of sentences with predicates and reflexives that are linked to a non-adjacent noun, as a test of the Hierarchical Ordering Deficit Hypothesis (HOD). That hypothesis posits that children with language impairment have difficulty in establishing non-adjacent (hierarchical) relations among elements of a sentence. This dissertation also tested whether additional working memory demands in constructions containing reflexives affected the syntactic assignment of children with SLI, ASD and DS. Method: Sixty-twoBrazilian Portuguese-speakingchildren (40 boys and 22 girls) between 7;0 and 14;2 years of age participated in two studies that investigated the syntactic assignment of predicates and reflexives. Study I compared performance of children SLI to children with typical language development (TLD). Study II compared the performance of children with SLI, ASD, DS and TLD peers. The experiment consisted on a computerized sentence comprehension task designed on E-Prime software. Each child responded to 72 trials which were randomly presented to avoid order or familiarization effects. For each trial, the child was presented with a context sentence (maximum duration of 5500 ms) and, after an interstimulus interval of 1000 ms, the target sentence (maximum duration of 5000 ms) and the visual stimuli (four pictures) were presented simultaneously.Results:In Study I, children with SLI were significantly less accurate on all conditions. Different error distributions were observed on the two working memory conditions. Both groups made more errors resulting in incorrect syntactic construction in the long working memory condition. In Study II, children with SLI, ASD, and DS exhibited poorer overall performance than TLD children. The groups of ASD and DS exhibited similar response patterns across conditions. Children with SLI exhibited similar performance to the DS and ASD children only when working memory demands were higher. Conclusion: The HOD hypothesis was not confirmed. Children with SLI, ASD and DS differ from children with TLD on the comprehension of predicate and reflexive structures where knowledge of syntactic structural assignment is required. There are similarities between children with ASD and DSon the comprehension of these structures. Working memory has different effects in syntactic comprehension depending on the language disorder.

No description available.

<p>In this study 165 Swedish parents of young children with Downs’s syndrome (DS) were investigated regarding their perception of the quality of the first information and support received after the birth of the child. The parents’ opinions were compared with clinical routines at the paediatric clinics regarding these issues. Strong clinical ambitions fell short, however, since 70 % of the parents felt insufficiently informed; 56 % felt unsupported, and the timing of the disclosure varied between 0 hour to >5 days. On the basis of a grounded theory analysis the parents’ written narratives regarding the quality of the first information and support were analysed to better understand the reasons underlying the parental dissatisfaction. Criticisms were raised by the parents concerning: the low communication skills by professionals; the lack of privacy; too much negative information; and an unmet desire to early meet other DS parents. </p><p>The implications of being DS parents regarding their daily life were examined by measuring parental health, stress, sense of coherence, employment and sick leave rates. Results were compared with those in a randomly selected group of parents of healthy age-matched children. The similarities between the DS and control parents were more pronounced than the differences regarding divorce rates, siblings in the family, time spent on child care, employment and sick leave rates, and their self-perceived health, stress, and sense of coherence. However, self-perceived health of the DS mothers was impaired and stress was increased. A small group of DS parents (5 mothers and 1 father) had an extremely high rate of sick leave and no such group was seen in the control parents. In addition, the DS mothers stayed at home because of the child’s sickness most frequently and the DS fathers stayed at home for this reason more than control mothers.</p><p>Conclusions: Existing guidelines for optimal first information and support of new parents of children with DS are not always followed in Sweden. Qualitative clinical improvements from the parents’ perspective are proposed. Most DS parents live an ordinary family life in respect to the measured parameters, but the risk for health deterioration, particularly in DS mothers, might need attention.</p>

<p>To assess the impact of congenital malformations in Down syndrome (DS) on morbidity, mortality and outcome at birth, information on all children with DS born in the northern part of Sweden in 1973-80 (n=211) and 1995-98 (n=88) was collected. Most common were congenital heart defects (CHD), dominated by atrioventricular septal defects (AVSD). Up to age 10 years, morbidity and mortality were more than 10 times higher in DS children with CHD than in healthy DS children. The DS children seemed more vulnerable at birth than Swedish children in general: they had increased frequencies of Cesarean sections, premature birth, asphyxia, and low birthweight, and higher proportions of children small for gestational age, regardless of the presence of CHD. Infant mortality decreased from 14.2% to 2.3% between the two periods.</p><p>All children with AVSD with and without DS born in Sweden 1973-1997 (n=801) were followed up retrospectively to 2001. Children with isolated AVSD without complex additional CHDs were studied more closely (n=502). A reduction in age at operation and postoperative mortality (from 28 to 1%) was observed. No significant difference in 5-year postoperative mortality between genders or between DS and non-DS children was found. The 5-year postoperative mortality in DS decreased from 35% in 1973-77 to about 10% in 1993-97. </p><p>CHD had a major influence on morbidity, infectionrate and mortality in DS, but not on DS birth variables. The formerly high mortality in CHD is now reduced. In isolated AVSD measures seem equally successful in DS and non-DS children. Mortality is still 3 times higher in DS children with isolated AVSD than in healthy DS children. </p>

To assess the impact of congenital malformations in Down syndrome (DS) on morbidity, mortality and outcome at birth, information on all children with DS born in the northern part of Sweden in 1973-80 (n=211) and 1995-98 (n=88) was collected. Most common were congenital heart defects (CHD), dominated by atrioventricular septal defects (AVSD). Up to age 10 years, morbidity and mortality were more than 10 times higher in DS children with CHD than in healthy DS children. The DS children seemed more vulnerable at birth than Swedish children in general: they had increased frequencies of Cesarean sections, premature birth, asphyxia, and low birthweight, and higher proportions of children small for gestational age, regardless of the presence of CHD. Infant mortality decreased from 14.2% to 2.3% between the two periods. All children with AVSD with and without DS born in Sweden 1973-1997 (n=801) were followed up retrospectively to 2001. Children with isolated AVSD without complex additional CHDs were studied more closely (n=502). A reduction in age at operation and postoperative mortality (from 28 to 1%) was observed. No significant difference in 5-year postoperative mortality between genders or between DS and non-DS children was found. The 5-year postoperative mortality in DS decreased from 35% in 1973-77 to about 10% in 1993-97. CHD had a major influence on morbidity, infectionrate and mortality in DS, but not on DS birth variables. The formerly high mortality in CHD is now reduced. In isolated AVSD measures seem equally successful in DS and non-DS children. Mortality is still 3 times higher in DS children with isolated AVSD than in healthy DS children.