published_or_final_version / Medical Sciences / Master / Master of Medical Sciences

Children with Down syndrome present with an array of physical and cognitive sequelae that can hinder speech and language development. These individuals can constitute a considerable portion of a speech-language pathologist’s caseload. Based on the principles of best evidence, clinicians are ethically responsible for providing the most effective treatment for their clients. The available literature focuses mainly on describing the linguistic characteristics in this population, while relatively less focus is placed on effective intervention programs. This paper investigates the available evidence regarding speech and language interventions for children with Down syndrome who are in the mild to moderate range of linguistic functioning, and provides an outlook for future research based on best evidence. / text

Down syndrome (DS), caused by an extra chromosome 21, affects 1 in 750 live births, and is characterized by cognitive impairment as well as several congenital defects. Currently, little is known about the molecular pathogenesis of DS and no direct genotype-phenotype relationship has yet been confirmed. The current screening test for DS subjects many women to undergo invasive procedures such as amniocentesis due to suboptimal sensitivity and specificity. Therefore, this study aimed to discover novel biomarkers to improve screening tests, and to discovery dysregulated molecular pathways in DS-affected fetus to better understand pathogenesis. To achieve this objective, proteomic analyses of amniotic fluid (AF) and amniotic fluid cells (amniocytes) were performed using mass spectrometry (MS), which allows discovery of a large number of proteins in complex biological samples. Since AF contains the most information of the developing fetus, we first generated the most comprehensive list of proteins present in AF by using high resolution MS. We then performed quantitative analyses of proteins from AF as well as amniocytes to reveal novel biomarkers and clues to altered molecular mechanisms of DS. Comparison between the proteome of AF from unaffected and DS-affected pregnancies allowed selection of 60 candidate biomarkers based on spectral counting. Two candidates, APP and TNC-C, were verified by immunoassays to show two-fold increase in AF from DS-pregnancies. Additionally, CPA4, MUC13, CEL, DPP4 and MMP2 were verified to be differentially expressed in trisomy 21-AF via selected reaction monitoring assays using triple-quadruple mass spectrometer. Amniocytes from DS-affected and unaffected fetuses were also quantitatively analyzed by using Stable Isotope Labelling of Amino acids in Cell culture technique. Over 4900 proteins were identified from amniocyte lysate and supernatant by LTQ-Orbitrap mass spectrometer, and 85% of these proteins were quantified based on MS/MS spectra ratios of peptides containing isotope-labelled amino acids. Proteins that consistently showed aberrant expression from affected amniocytes have been selected for further verification and molecular network analyses since they may play a role in DS pathogenesis.

M.A. (Counselling Psychology) / Sibling interaction is often an overlooked aspect of family functioning. For many years there has been an overemphasis on the importance of parental influences on children, yet common sense dictates that brothers and sisters must have some effect on each other even though this effect may not always be obvious. The sibling relationship is a life-long process, and is therefore highly influential throughout the life cycle ...

Postítulo en terapias de arte, mención musicoterapia / El presente texto tiene por finalidad, relatar una experiencia de intervención musicoterapéutica realizada en la Escuela San Juan de Dios de la ciudad de Viña del Mar, donde se trabajó con una niña de 8 años diagnosticada con Síndrome de Down. Bajo este contexto, esta monografía describe las principales características de las afecciones antes mencionadas, las que complementadas con diversas propuestas metodológicas musicoterapéuticas, ofrecerán las pautas a seguir en la intervención realizada, proyectando sus alcances y ofreciendo panorámicas de la evolución vivida dentro del pasar de las sesiones. Del mismo modo, quedan aquí plasmadas las conclusiones extraídas de un proceso terapéutico, que da fe de los logros y aprendizajes derivados de una experiencia de práctica profesional realizada.

Trabajo de Investigación Requisito para optar al Título de Cirujano Dentista / Introducción: El Síndrome de Down (SD) es una anomalía genética que afecta a 2.47 por cada mil nacidos vivos en Chile, se manifiesta con retraso mental además de diversas alteraciones físicas y fisiológicas. Individuos portadores de esta anomalía presentan también inmunodeficiencia que los hace más susceptibles a diversas infecciones a nivel general, incluyendo patologías infecciosas en la cavidad oral. Objetivo: Comparar los recuentos de especies de Streptococcus mutans, Lactobacillus spp. y levaduras del género Candida aislados desde muestras de saliva de niños con SD y un grupo control sin el síndrome. Materiales y métodos: 25 sujetos con Síndrome de Down y 25 controles entre 2 y 17 años fueron evaluados clínicamente para determinar el índice de Higiene Oral Simplificado, índices ceod y COPD para historia de caries. Además se recolectaron muestras de saliva no estimulada para cultivo microbiológico, a partir de los cuales se realizó el aislamiento, identificación y recuento de Streptococcus mutans, Lactobacillus spp. y levaduras del género Candida. Resultados: El grupo de niños con Síndrome de Down y grupo control no presentaron diferencias significativas respecto al Índice de Higiene Oral Simplificado y los índices ceod/COPD. Los hallazgos microbiológicos no arrojaron diferencias significativas en relación al recuento de Streptococcus mutans, pero se encontraron altos niveles de Lactobacillus spp. en el grupo control y altos niveles levaduras del género Candida en los niños con SD, existiendo diferencias estadísticamente significativas entre ambos grupos Conclusiones: Los altos recuentos de levaduras del género Candida en niños con Síndrome de Down podrían ser un factor de riesgo para el desarrollo de patologías fúngicas orales y sistémicas asociadas a estos microorganismos.

El presente es un estudio cuanti - cualitativo con un diseño descriptivo simple. La población está conformada por 10 estudiantes de 6 a 9 años con Síndrome de Down de una institución educativa privada del distrito de Surco. Por las características de la población y por el número de sujetos, la muestra será igual a la población. El objetivo de estudio es conocer las características de la masticación y deglución en niños con Síndrome de Down, para tal fin usamos como instrumento el Protocolo de Evaluación Mio funcional de Irene Marchesan, el cual nos permite describir las estructuras oro faciales, así como las características de las funciones orales. Nuestros hallazgos evidencias un tipo de incisión adecuada y una zona de trituración en dientes posteriores con lengua. Durante la masticación encontramos presencia de contracciones musculares atípicas y ruidos; mientras que en la deglución encontramos presencia de atoros en alimentos y líquidos, así como presencia de restos alimenticios. / Tesis

Esta investigación tiene como objetivo describir las características de la sensitividad materna reportada en un grupo de madres de niños con síndrome de Down. Se contó con la participación de 15 madres entre 35 y 51 años (M= 41.5, DE=4.4), con un grado de instrucción superior completa, y con la presencia del padre del niño en la dinámica familiar. Los menores, 11 varones y 4 mujeres, tienen un diagnóstico de síndrome de Down, y edades entre 3 y 5 años (M =46.7meses, DE =8.4). Se aplicó al Maternal Behavior for Preschoolers Q-Set (MBPQS) a modo de autoreporte. Los resultados obtenidos muestran que si bien este grupo reporta tener una sensitividad por debajo del criterio teórico, tiene puntuaciones mayores que otra investigación con una muestra similar de madres de niños con TEA. Reportan, además, que su compromiso emocional y conductual, y su capacidad para proporcionar seguridad al niño es acorde al ideal. Sin embargo, refieren tener dificultades en su manera de reaccionar frente a situaciones de tensión y angustia, y en la negociación de límites. Finalmente, estas madres reportan tener un nivel adecuado de sensitividad, siendo capaces, desde su percepción, de leer y responder adecuadamente a las señales de sus hijos. / This research aims to describe the characteristics of maternal sensitivity reported in a group of mothers of children with Down syndrome. For this purpose, 15 mothers between 35 and 51 years old (M= 41.5, SD= 4.4) participated, all of them with a third level education stage completed, and feeling the presence of their partner in the family dynamics. The children, 11 males and 4 females, have a diagnosis of Down syndrome, and have ages between 3 and 5 years (M = 46.7months, SD = 8.4). The Maternal Behavior for Preschoolers Q-Set (MBPQS) was assessed as a self-report. The results show that as much as these mothers reported a sensitivity level below the criterion score, they scored better than another study with a sample of mothers of children with ASDs. They also reported that their emotional and behavioral commitment and their ability to provide security to their child is according to the ideal criterion. However, they reported to have difficulties in the way they react to situations of tension and anxiety, and negotiating boundaries with their children. In general, these mothers reported to have an adequate level of sensitivity, being able, from their point of view, to read and respond properly to the signals of their children. / Tesis

La presente investigación es cuanti - cualitativa con diseño descriptivo simple. La población está conformada por 7 estudiantes de 8 a 10 años con Síndrome Down de una institución educativa estatal del distrito de La Victoria. Por las características de la población y por el número de sujetos la muestra será igual a la población. El objetivo principal de la investigación es describir las características de la masticación y deglución en niños con Síndrome Down y por ello se utilizó como instrumento de evaluación el Protocolo de Evaluación Miofuncional de Irene Marchesan MGBR 2012 el cual permitió describir las estructuras orofaciales así como las características de las funciones orales de masticación y deglución Los hallazgos encontrados evidencian el tipo un tipo incisión anterior y una de zona de trituración en dientes anteriores. Durante la masticación se encontró presencia de contracciones musculares atípicas y ruidos mientras que la deglución fue de tipo adaptada así como presencia de restos alimenticios. / This is a quantitative and qualitative study, which uses a simple descriptive design. The patients were 7 students from 8 to 10 years of age with Down syndrome all of them from a state school in the victory district. The sample would mean the population in terms of number of subjects and their characteristics. The aim this study is to describe the characteristics of chewing and swallowing in the children with Down syndrome to so we use the Miofuncional Assessment protocol by Irene Marchesan as a researching instrument. This allowed us to describe the oral and facial structures as well as the characteristics of the oral functions. Our findings evidence an inadequate type of incision anterior and area of chewing in the previous teeth. During the mastication process, we found that there were a typical muscle contractions and noise while during the swallowing adapted as well as the presence of leftovers / Tesis

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.