A aneuploidia é o distúrbio cromossômico mais comum em humanos e ocorre em pelo menos 5% de todas as gestações clinicamente reconhecidas. A trissomia é o tipo de aneuploidia mais frequente, sendo a trissomia do 21 a mais comum entre os nascidos vivos. A não-disjunção meiótica é a principal causa da trissomia livre do 21, sendo responsável por 95% dos indivíduos afetados. Apesar de poder ocorrer em qualquer um dos genitores, em 90% dos casos a não-disjunção meiótica é de origem materna. A idade materna é o único fator comprovadamente ligado à aneuploidia em humanos. Estudos recentes indicam que a família gênica p53 exerce importante função como reguladora de processos de reprodução e desenvolvimento, limitando a propagação de células aneuplóides. Sua disfunção ou desequilíbrio pode levar a anomalias patológicas em humanos. Este estudo teve como objetivo avaliar polimorfismos nos genes da família p53 e sua via regulatória como fatores de risco para Síndrome de Down (SD) em um estudo caso-controle. Foram analisados os polimorfismos c.215G>C do gene TP53, c.43-4742T>G do gene TP63, c.-30G>A e c.-20C>T do gene TP73, c.14+309T>G do gene MDM2, c.753+572C>T do gene MDM4 e c.2719-234G>A do gene USP7 em 263 mães de portadores da SD e 196 mães de crianças sem malformações. As frequências dos polimorfismos foram determinadas pelo método TaqMan de discriminação alélica através de PCR real-time. A distribuição alélica e genotípica dos polimorfismos testados foi similar entre os grupos caso e controle, e não apresentou diferença estatisticamente significativa quando avaliada individualmente, mesmo quando controlado para idade materna. Entretanto, quando testada a interação gene-gene, a combinação dos alelos TP53 C e MDM2 G, e TP53 C e USP7 A foi associada a um aumento no risco de ter filho com SD (OR = 1,84 e 1,77; 95% IC; P < 0,007 e 0,018, respectivamente). Nossos resultados sugerem que, embora os polimorfismos estudados não estejam associados com o aumento no risco de trissomia do 21, seus alelos combinados podem ter um efeito sinergístico de maneira multifatorial. Neste trabalho, buscamos por diferentes fatores de susceptibilidade que poderiam predispor a nascimentos aneuplóides. Este é o primeiro trabalho a estabelecer uma relação entre polimorfismos na família gênica p53 e sua via regulatória como fator de risco para aneuploidia do 21. / The aneuploidy is the most common chromosomal disorder in humans, and occurs in at least 5% of all clinically recognized pregnancies. Trisomy is the most frequent type of aneuploidy, trisomy being 21 the most common among newborns. The meiotic nondisjunction is the leading cause of free trisomy 21, accounting for 95% of affected individuals. Although it can occur in any one parent, in 90% of cases the meiotic nondisjunction has maternal origin. Maternal age is the only factor demonstrably linked to aneuploidy in humans. Recent studies indicate that the p53 gene family plays an important role as a regulator of reproduction and development, limiting the spread of aneuploidy cells. Its dysfunction or imbalance can lead to pathological abnormalities in humans. This study aimed to evaluate polymorphisms in genes of the p53 family, and its regulatory pathway as risk factors for Down syndrome (DS) in a case-control study. We analyzed the polymorphisms TP53 c.215G>C (P72R), TP63 c.43-4742T>G, TP73 4 c.-30G>A and 14 c.-20C>T, MDM2 c.14+309T>G (SNP309), MDM4 c.753+572C>T and USP7 c.2719-234G>A in 263 mothers with DS and 196 mothers of children without malformations. The frequencies of polymorphisms were determined using the TaqMan allelic discrimination by real-time PCR. The allelic and genotypic distribution of these polymorphisms tested was similar between case and control groups, and did not differ statistically when evaluated individually, even when controlling for maternal age. However, when assessed the gene-gene interactions, the combination of the alleles TP53 C and MDM2 G, and TP53 C and USP7 A was associated with an increased risk of having a child with Down Syndrome (OR = 1.84 and 1.77, 95% CI, P <0.007 and 0.018 respectively). Our results suggest that, although the evaluated polymorphisms are not associated with the risk of risk of 21 trisomy, the combined alleles may have a synergistic effect in a multifactorial way. In this study, we search by different susceptibility factors that could predispose to aneuploid births. This is the first study to establish a relationship between polymorphisms in the p53 gene family and its regulatory pathway as a risk factor for aneuploidy of 21.

Orientador: Gilson Ricardo de Medeiros Pereira. / Dissertação (mestrado) - Universidade Regional de Blumenau, Centro de Ciências da Educação, Programa de Pós-Graduação em Educação.

No description available.

Los fundamentos legales en diferentes paises como en Bolivia indudablemente son un avance importante paea consolidar la integración escolar, sin embargo es un hecho comprobado que esta no se logra mediante un marco legal, sino necesariamente implica un cambio de actitudes, una verdadera cultura de integración que considere: que estos niños/as se benefician mas de la convivencia con los otros niños de la escuela regular, que sus dificultades específicas en el aprendizaje puedan resolverse con estrategias diversas.

En esta investigación se aborda la problemática de los factores socio-culturales y su incidencia en la integración educativa de dos niños con Síndrome de Down con diagnóstico de coeficiente intelectual leve a moderado, que asisten a la Unidad Educativa “René Barrientos Ortuño” de la ciudad de La Paz, con base en la teoría existente sobre la integración educativa de estudiantes que presentan algún tipo de discapacidad intelectual. Para una mejor comprensión de la problemática, se revisó la literatura pertinente, habiéndose identificado las características psicosomáticas de las personas que presentan Síndrome de Down en sus diferentes niveles, así como sus causas, sus capacidades y limitaciones, remarcando el interés por la respuestas del entorno social y educativo, que muchas veces suele tender a ser discriminatoria y marginalizadora. Con la observación directa y la consulta a los propios compañeros de curso, de los estudiantes con Síndrome de Down, como a los padres de familia y educadores, se logró tener una visión más clara y específica de las dificultades socio culturales que deben enfrentar los niños con Síndrome de Down en su proceso de integración educativo.

Syfte Syftet med denna studie är att beskriva föräldrars upplevelse av bemötande, stöd och information i samband med födseln av ett barn med Downs syndrom, DS.                         Bakgrund Ungefär 120 barn per år föds med Downs syndrom i Sverige och vårdas den första tiden på nyföddhetsavdelningar. Tidigare forskning har visat att föräldrarna upplevt otillräckligt stöd och information under den första tiden. Idag finns konkreta råd för hur det tidiga föräldrastödet ska se ut.                                                                                            Design En kvalitativ studie.                                                                                                 Metod Enkäter med öppna breda frågor skickades ut till 47 föräldrar till barn med DS. Av dessa analyserades 28 enkäter. Enkäterna analyserades med kvalitativ innehållsanalys. Data insamlades under april 2015. Resultat: Fyra teman identifierades vilka illustrerar föräldrars upplevelser i samband med födseln av ett barn med DS. När misstanken väcktes beskriver föräldrarnas upplevelser av hur och av vem misstanken väcktes att deras barn hade DS. Otydlig och bristfällig information Trots att goda exempel finns, är det många föräldrar som har dåliga erfarenheter av den första tiden. De beskriver hur personalen har undanhållit information samt att informationen har varit otydlig. Föräldrarna vill ha tydlig och ärlig information Vi har fått barn, inte bara en diagnos Vårdpersonalens attityder till DS har haft betydelse för föräldrarnas upplevelse på gott och ont, vilket även har påverkat deras copingstrategier.  Viktig att bli bekräftad beskriver hur föräldrarna önskar mer tid för samtal, många föräldrar har upplevt sig utelämnade. De önskar att vårdpersonalen vågat vara personliga och ge sitt stöd.

Assisted reproduction technology is increasingly used for treatment of couples with subfertility. These women are usually of more advanced maternal age and carry a higher risk of fetal Down syndrome. Results from early publications showed that biochemical markers for screening of fetal Down syndrome in the second trimester were different between pregnancies from in vitro fertilization (IVF) and natural conception. This could potentially increase the false positive rate and result in unnecessary invasive diagnostic procedures. Questions were raised as to whether the alterations were related to ovarian stimulation. This laid the fundamentals of a series of studies presented in this thesis with an aim to address the variations in the concentrations of markers of fetal Down syndrome and the fetal growth profile of pregnancies conceived following different assisted reproduction treatments. Studies were conducted on maternal serum and amniotic fluid alpha fetoprotein (AFP) and human chorionic gonadotrophin (hCG) in the second trimester in pregnancies conceived by assisted reproduction. A reduced level of AFP in maternal serum in pregnancies with fresh embryos together with an elevated level of hCG in both maternal serum and amniotic fluid in pregnancies with frozen thawed embryos were found. This pioneer piece of data showing the raised hCG in frozen thawed embryo pregnancies with unstimulated treatment cycles spoke against the ovarian driven hypothesis, but suggested placental dysfunction be a possible underlying pathophysiology. For markers adopted in the first trimester, the level of pregnancy associated protein A (PAPP-A) was significantly reduced in pregnancies from assisted reproduction. The data on free βhCG was heterogeneous. Apart from biochemical markers, the nuchal translucency was also increased in these singleton pregnancies but not in dichorionic twins. As the direction of deviations of these markers in unaffected pregnancies from assisted reproduction resembled those observed in pregnancies affected by Down syndrome, appropriate adjustment was necessary to reduce the false positive rate for these women. Altered biochemical markers, notably a low PAPP-A level, were also associated with adverse obstetric outcomes. The changes observed in pregnancies from assisted reproduction might be a manifestation of an intrinsic placental insufficiency or fetal developmental delay. A longitudinal study was performed to examine the intrauterine fetal growth profile in these pregnancies. The rate of increment in the mean sac size, which could represent an adaptive compensatory mechanism, was significantly greater in pregnancies from assisted reproduction compared to natural conception. We concluded that pregnancies conceived after assisted reproduction technology were different from pregnancies from natural conception in terms of the concentrations of biochemical and ultrasound markers of Down syndrome. Due to the wide variation in treatment protocols and patients’ background demographics, the exact underlying pathophysiology might be difficult to be explored. Couples undergoing assisted reproduction treatment should be counseled on the increased risk of adverse pregnancy course and perinatal outcome. / published_or_final_version / Medicine / Master / Doctor of Medicine

A forced-choice reaction time (RT) task was used to examine the relations between covert orienting (shifts of visual attention independent of eye movement) and filtering (the inhibition of processing of irrelevant stimuli) components of attention in persons with Down syndrome (n = 17) and children of average intelligence (n = 17) matched for mental age (MA), (MA = approximately 5 years). Conditions varied with regard to presence or absence of distractors, and the validity (valid, invalid, or neutral) of location cues. RT/p(correct) scores of both groups were longer in distractor-present conditions and in conditions when the location cue provided incorrect information (invalid cue). In addition, RT/p(correct) scores of both groups were longer when it was necessary to simultaneously search for a target and filter out irrelevant information, than when each of these attention demanding tasks was utilized separately. However, there were no differences in performance between persons with Down syndrome and MA matched children of average intelligence. This evidence is used to challenge the notion of an overall deficit in selective attention abilities in persons with Down syndrome as compared to MA matched children of average intelligence. Findings are also discussed in terms of their support for a capacity sharing relationship between covert orienting and filtering.

This study investigated friendship formations of two girls with Down Syndrome who were integrated into a unit of 34 ten and eleven-year-old girls at a residential summer camp. While acting as participant observer, in the role of co-counsellor, I recorded behavioural observations and informal interviews in a journal, friendship log and personal log. A quantitative data analysis investigated the frequency with which campers elected to be with these two girls, as well as the number of campers who chose them as their best friends, as preferred bunkmates for next year and as those with whom they would want to keep in touch. A qualitative data analysis investigated the comments made by campers and counsellors concerning the program and the two girls of interest to this study. Results indicated that these two girls formed friendships during this month-long program. Limitations of this investigation are considered and some suggestions for further research are explored.

The goal of this study was to examine theory of mind and deliberate rule use in children with Down syndrome as compared to children of normal intelligence. Theory of mind was defined as the ability to understand that other people have thoughts, beliefs and desires. Deliberate rule use was considered to be the extent to which children were able to learn and subsequently switch between a set of ad hoc rules unrelated to mental states. Participants included 10 individuals with Down syndrome and 10 individuals of normal intelligence matched for mental age. The primary finding of this study was that individuals with Down syndrome do not possess a theory of mind at a mental age of 5 years. Furthermore, individuals with Down syndrome possess domain specific knowledge of embedded rules, whereas, individuals with normal intelligence apply an embedded rule structure that effects mental and non-mental state tasks equally. The embedded rule use of individuals with Down syndrome was characterized by: (a) an inability to effectively use embedded rules in theory of mind and deductive card sort tasks; and, (b) the ability to use embedded rules in a task assessing physical causality.