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

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

The hippocampus plays a critical role in binding together information into an integrated memory, and memory for these arbitrary associations is important when learning new words. Recent studies have investigated a learning mechanism called fast mapping (FM), showing that rapid acquisition of novel arbitrary associations can be learned independent of the hippocampus. In the current study we examine word-learning across two conditions more and less likely to require information integration via the hippocampus in typically developing children and individuals with hippocampal dysfunction (e.g., Down syndrome). Individuals with Down syndrome (DS) manifest hippocampal dysfunction and display memory and learning difficulties, hence could potentially benefit from alternative learning strategies. The current study found no benefit of the FM condition in either group. Both groups performed similarly and above chance level across the two conditions and over a week's delay, but a delay by group interaction suggested that the typically developing children showed improvement across all conditions after 1 week whereas performance in DS stayed consistent. Given evidence for sleep deficits in DS we examined how sleep disturbance related to delayed word retention. Sleep efficiency did not appear to be driving maintenance in either group. Future studies investigating when an individual with DS sleeps after learning, could provide a better understanding of how sleep can influence the word learning process. Additionally, future studies in an older group of children can also provide information on when the hippocampus and sleep dependent learning may develop in childhood.

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

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

LEAL, E, N. A criança com Síndrome de Down: expectativa da mãe sobre o processo de inclusão escolar. 2006. Dissertação (mestrado) – Faculdade de Filosofia, Ciências e Letras de Ribeirão Preto, Universidade de São Paulo, 2006. É a família a principal responsável pela formação da identidade social e pessoal do indivíduo e com ela que a criança aprende que é um ser aceitável no mundo. A chegada de um bebê Down gera na família nuclear uma gama de emoções conflitantes sendo reforçada pela falta de informação sobre os cuidados primários e quanto ao seu desenvolvimento. Isso desencadeia o questionamento quanto ao futuro fazendo com que os pais, precocemente, procurem instituições para auxiliar no desenvolvimento psicomotor e cognitivo de seu filho e suprir suas aflições. Desta forma, o objetivo geral deste estudo é conhecer quais as expectativas das mães sobre a escolarização de seu filho com Síndrome de Down quando esse se encontra ainda na fase de estimulação precoce e como se realiza o processo de escolha do sistema educacional no qual ele será inserido. Participaram da pesquisa 15 mães com idade de 29 a 45 anos cujos filhos têm Síndrome de Down e estão freqüentando o serviço de estimulação precoce da Associação de Pais e Amigos dos Excepcionais de Ribeirão Preto – APAE e APAES da região. Para a coleta dos dados foi utilizado um roteiro de entrevista semi-estruturado e os dados foram analisados por sistema de categoria. Os resultados mostram que 53% das mães têm expectativa positiva em relação à escolarização de seu filho, ou seja, elas esperam que eles tenham condições de acompanhar os estudos e 46,6% delas não esperam muito quanto a escolarização de seu filho, mas ambas irão matricular seu filho numa escola de ensino regular tendo recebido ou não indicação da instituição de estimulação, pois julgam que essa inserção é necessária para o desenvolvimento geral de seu filho. Assim, concluímos que a expectativa das mães mesmo sendo alta ou baixa, não interferirá na escolha do tipo de escola que a criança freqüentará / The main responsible for the formation of the social and personal identity of the individual is the family and with it the child learns that it is an acceptable being in the world. The arrival of a Down baby generates in the nuclear family a role of conflicting emotions amplified by the lack of information on the primary cares and the development of the syndrome. This unchains the question about the future making that the parents, precociously, look for institutions to assist in the psychomotor and cognitive development of its son and to supply its afflictions. Thus, the general objective of this study is to know what are the expectations of the mothers about school life of its son with Down Syndrome while the child is still found in the phase of precocious stimulation and how undergoes the process of choice of the educational system in which the child will be inserted. Fifteen mothers took part of the research with age from 29 till 45 years whose children have Syndrome of Down and are frequenting the service of precocious stimulation at APAES of the region of Ribeirão Preto. For the collection of the data a half-structuralized script of interview was used and the data were analyzed by a category system. The results shows that 53% of the mothers have positive expectation in relation to the learning process of its son, or either, they presume that they have conditions to follow the studies and that 46,6% of them very does not wait too much about the learning process of its son, but both will register its son in a regular education school having received or not indication from the stimulation institution because they judge that this insertion is necessary for the general development of its son. Thus, we conclude that the expectation of the mothers, even being high or low, will not intervene with the choice of the type of school that the child will frequent

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.

I Sverige föds varje år drygt 100 barn med Downs syndrom. Föräldrarna till dessa barn kan vid beskedet om att deras barn inte är friskt uppleva en omvälvande tid i sina liv eftersom de förväntningar de hade på sitt barn och sitt föräldraskap inte förverkligas. När vårdpersonal träffar dessa familjer behöver de kunskap om hur föräldrarna upplever sin situation. Syftet med denna studie är därför att belysa upplevelsen av att vara förälder till barn med Downs syndrom. Uppsatsen baseras på analys av nio vetenskapliga artiklar med kvalitativ ansats, vilkas resultat har granskats och sammanställts i teman som tillsammans bildar uppsatsens resultat. De fyra teman som framkom var: att uppleva att man genomlever en kris, förändringar i det sociala livet, att uppleva bristande/tillräckliga resurser samt att känna oro. Resultatet visar att föräldrar till barn med Downs syndrom upplever att föräldraskapet innefattar både positiva och negativa aspekter. Att få ett barn med Downs syndrom innebär på många sätt en chock, men med tiden anpassar sig de flesta familjer till den nya situationen. Det framkommer även att föräldraskapet innebär en ständig oro inför barnets framtid och omgivningens reaktioner. Familjens relationer kan både förbättras och försämras av att ha barn med Downs syndrom. Resultatet diskuteras i relation till bakgrunden samt relevant litteratur inom ämnet. Föräldraskapets innebörd och betydelse relaterat till barn med Downs syndrom jämförs med föräldraskap i allmänhet samt diskuteras i relation till krisbearbetning. Diskussionen innehåller även en kulturell aspekt av upplevelsen av att vara förälder till barn med Downs syndrom samt reflektioner kring omgivningens påverkan på föräldrars förmåga att acceptera sin situation. / <p>Program: Sjuksköterskeutbildning</p><p>Uppsatsnivå: C</p>

No description available.

É previsto que o desenvolvimento global das crianças com síndrome de Down (SD) ocorra com atraso, repercutindo nas habilidades cognitivas, sociais, de autocuidados, motoras e linguísticas. As diferenças significativas no padrão usual de aquisição de linguagem de crianças com SD ainda não foram totalmente dimensionadas. Apesar do extenso corpo de conhecimento sobre a SD e desempenho comunicativo, principalmente no âmbito internacional, há consideráveis lacunas para a compreensão destes processos. A proposição deste estudo foi verificar e analisar o desempenho de vocabulário receptivo e expressivo de crianças com SD e comparar com o desempenho de crianças com desenvolvimento típico (DT) pareados pela idade mental (Stanford-Binet) e sexo. Cumpriram-se os aspectos éticos. Participaram do estudo 20 crianças com SD (grupo experimental - GE), de ambos os sexos, com idade cronológica variando entre 36 e 71 meses e 20 crianças com DT (grupo controle - GC), com idade cronológica variando entre 13 e 44 meses. Foi realizada entrevista com os responsáveis e aplicado o Inventário de Desenvolvimento de Habilidades Comunicativas MacArthur (MacArthur). Os procedimentos de avaliação utilizados foram a Observação do Comportamento Comunicativo (OCC), o Teste de Vocabulário por Imagens Peabody (TVIP), o Teste de Linguagem Infantil ABFW Vocabulário Parte B (ABFW) e o Teste de Screening de Desenvolvimento Denver II (Denver II). O tratamento estatístico foi realizado com utilização de testes paramétricos e não paramétricos. Os resultados apontaram diferença estatisticamente significante entre o desempenho do GE e GC para todos os testes aplicados, exceto para a área pessoal-social e motora grossa do instrumento Denver II e para vocabulário expressivo do MacArthur. Em relação às habilidades receptivas e expressivas, o desempenho em vocabulário receptivo foi melhor do que no vocabulário expressivo para ambos os grupos. Na correlação entre os instrumentos aplicados, não foi encontrada correlação estatisticamente significante para desempenho no MacArthur e TVIP para GC e GE e no Denver II e TVIP apenas para GC. Ao analisar o desempenho de crianças com SD verificou-se alteração quanto ao vocabulário receptivo e expressivo. Ao comparar o desempenho das crianças com SD com crianças com DT, pareadas quanto ao sexo e idade mental, verificou-se que as crianças com SD apresentaram desempenho inferior quanto ao vocabulário receptivo e expressivo, com distinções em seus padrões de respostas. / Is provided that the overall development of children with Down syndrome (DS) occurs with delay, reflecting the cognitive, social, self-care, motor and language skills. Significant differences in the usual pattern of language acquisition of children with DS have yet to be scaled. Despite the extensive body of knowledge about DS and communicative performance, especially at the international level, there are considerable gaps in understanding these processes. The purpose of this study was to check and analyze the performance of receptive and expressive vocabulary of children with DS and compare with the performance of children with typical development (TD) matched for dental age (Stanford-Binet) and sex. Were fulfilled the ethical aspects. Study participants were 20 children with DS (experimental group - EG), of both sexes, with age varying between 36 and 71 months and 20 children with TD (control group - CG), with age varying between 13 and 44 months. Was performed an interview with those responsible and apply to the Inventory of Development Communication Skills MacArthur (MacArthur). The evaluation procedures used were the Communicative Behavior Observation (CBO), the Peabody Picture Vocabulary Test (PPVT), the Child Language ABFW Test - Vocabulary Part B (ABFW) and Development Screening Test Denver II (Denver II). Statistical analysis was conducted using parametric and nonparametric tests. The results showed a statistically significant difference between the performance of GE and GC for all tests, except for the personal-social and gross motor Denver II instrument and expressive vocabulary of MacArthur. With regard to receptive and expressive skills, performance on receptive vocabulary was better than the expressive vocabulary for both groups. In the correlation between the instruments applied, no statistically significant correlation was found for performance on MacArthur and PPVT to CG and EG and the Denver II and PPVT only for GC. Analyzing the performance of children with DS was found to change as receptive and expressive vocabulary. Comparing the performance of DS children with TD children, matched by sex and mental age, it was found that children with DS showed lower performance on the receptive and expressive vocabulary, with distinctions in their response patterns.