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PLoS One ; 14(12): e0225281, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31800591


OBJECTIVES: Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide. New non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA in maternal blood can provide benefits due to its higher sensitivity and specificity in comparison to conventional screening tests. This study aimed to assess the cost-effectiveness of using population-level NIPT in fetal aneuploidy screening for DS. METHODS: We developed a microsimulation decision-analytic model to perform a probabilistic cost-effectiveness analysis (CEA) of prenatal screening and diagnostic strategies for DS. The model followed individual simulated pregnant women through the pregnancy pathway. The comparators were serum-only screening, contingent NIPT (i.e., NIPT as a second-tier screening test) and universal NIPT (i.e., NIPT as a first-tier screening test). To address uncertainty around the model parameters, the expected values of costs and quality-adjusted life-years (QALYs) in the base case and all scenario analyses were obtained through probabilistic analysis from a Monte Carlo simulation. RESULTS: Base case and scenario analyses were conducted by repeating the micro-simulation 1,000 times for a sample of 45,605 pregnant women per the population of British Columbia, Canada (N = 4.8 million). Preliminary results of the sequential CEAs showed that contingent NIPT was a dominant strategy compared to serum-only screening. Compared with contingent NIPT, universal NIPT at the current test price was not cost-effective with an incremental cost-effectiveness ratio over $100,000/QALY. Contingent NIPT also had the lowest cost per DS case detected among these three strategies. CONCLUSION: Including NIPT in existing prenatal screening for DS is shown to be beneficial over conventional testing. However, at current prices, implementation of NIPT as a second-tier screening test is more cost-effective than deploying it as a universal test.

Análise Custo-Benefício , Síndrome de Down/diagnóstico , Testes Genéticos/economia , Diagnóstico Pré-Natal/economia , Adulto , Simulação por Computador , Síndrome de Down/economia , Feminino , Testes Genéticos/métodos , Humanos , Método de Monte Carlo , Gravidez , Diagnóstico Pré-Natal/métodos , Anos de Vida Ajustados por Qualidade de Vida
Clin Epigenetics ; 11(1): 180, 2019 12 04.
Artigo em Inglês | MEDLINE | ID: mdl-31801612


BACKGROUND: Epigenetic mechanisms provide an interface between environmental factors and the genome and are influential in various diseases. These mechanisms, including DNA methylation, influence the regulation of development, differentiation, and establishment of cellular identity. Here, we performed high-throughput methylome profiling to determine whether differential patterns of DNA methylation correlate with Down syndrome (DS). MATERIALS AND METHODS: We extracted DNA from the chorionic villi cells of five normal and five DS fetuses at the early developmental stage (12-13 weeks of gestation). Methyl-capture sequencing (MC-Seq) was used to investigate the methylation levels of CpG sites distributed across the whole genome to identify differentially methylated CpG sites (DMCs) and regions (DMRs) in DS. New functional annotations of DMR genes using bioinformatics tools were predicted. RESULTS: DNA hypermethylation was observed in DS fetal chorionic villi cells. Significant differences were evident for 4,439 DMCs, including hypermethylation (n = 4,261) and hypomethylation (n = 178). Among them, 140 hypermethylated DMRs and only 1 hypomethylated DMR were located on 121 genes and 1 gene, respectively. One hundred twenty-two genes, including 141 DMRs, were associated with heart morphogenesis and development of the ear, thyroid gland, and nervous systems. The genes were significantly associated with DS and various diseases, including hepatopulmonary syndrome, conductive hearing loss, holoprosencephaly, heart diseases, glaucoma, and musculoskeletal abnormalities. CONCLUSIONS: This is the first study to compare the whole-epigenome DNA methylation pattern of the chorionic villi cells from normal and DS fetuses at the early developmental-stage using MC-seq. Overall, our results indicate that the chorionic villi cells of DS fetuses are hypermethylated in all autosomes and suggested that altered DNA methylation may be a recurrent and functionally relevant downstream response to DS in human cells. This study provides basic information for future research focused on the pathophysiology of the DS and its potential effects, as well as the role DNA methylation plays in the early developmental stage of DS fetuses.

Vilosidades Coriônicas/química , Metilação de DNA , Síndrome de Down/genética , Epigenômica/métodos , Estudos de Casos e Controles , Ilhas de CpG , Feminino , Redes Reguladoras de Genes , Humanos , Masculino , Anotação de Sequência Molecular , Gravidez , Primeiro Trimestre da Gravidez/genética , Sequenciamento Completo do Genoma/métodos
J Neurodev Disord ; 11(1): 39, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842726


BACKGROUND: Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, acute neuropsychiatric symptomatology, and dementia in this population of patients. METHODS: We adapted a widely used instrument, the Clinical Dementia Rating (CDR) Scale, which is a component of the Uniform Data Set used by all federally funded Alzheimer Disease Centers for use in adults with DS, and tested the instrument among 34 DS patients recruited from the community. The participants were assessed using two versions of the modified CDR-a caregiver questionnaire and an in-person interview involving both the caregiver and the DS adult. Assessment also included the Dementia Scale for Down Syndrome (DSDS) and the Raven's Progressive Matrices to estimate IQ. RESULTS: Both modified questionnaire and interview instruments captured a range of cognitive impairments, a majority of which were found to be chronic when accounting for premorbid function. Two individuals in the sample were strongly suspected to have early dementia, both of whom had elevated scores on the modified CDR instruments. Among individuals rated as having no dementia based on the DSDS, about half showed subthreshold impairments on the modified CDR instruments; there was substantial agreement between caregiver questionnaire screening and in-person interview of caregivers and DS adults. CONCLUSIONS: The modified questionnaire and interview instruments capture a range of impairment in DS adults, including subthreshold symptomatology, and the instruments provide complementary information relevant to the ascertainment of dementia in DS. Decline was seen across all cognitive domains and was generally positively related to age and negatively related to IQ. Most importantly, adjusting instrument scores for chronic, premorbid impairment drastically shifted the distribution toward lower (no impairment) scores.

Síndrome de Down/diagnóstico , Testes de Estado Mental e Demência/normas , Adolescente , Adulto , Síndrome de Down/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
Cells ; 8(12)2019 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-31817891


Down syndrome (DS), or trisomy 21, is the most prevalent chromosomal anomaly accounting for cognitive impairment and intellectual disability (ID). Neuropathological changes of DS brains are characterized by a reduction in the number of neurons and oligodendrocytes, accompanied by hypomyelination and astrogliosis. Recent studies mainly focused on neuronal development in DS, but underestimated the role of glial cells as pathogenic players. Aberrant or impaired differentiation within the oligodendroglial lineage and altered white matter functionality are thought to contribute to central nervous system (CNS) malformations. Given that white matter, comprised of oligodendrocytes and their myelin sheaths, is vital for higher brain function, gathering knowledge about pathways and modulators challenging oligodendrogenesis and cell lineages within DS is essential. This review article discusses to what degree DS-related effects on oligodendroglial cells have been described and presents collected evidence regarding induced cell-fate switches, thereby resulting in an enhanced generation of astrocytes. Moreover, alterations in white matter formation observed in mouse and human post-mortem brains are described. Finally, the rationale for a better understanding of pathways and modulators responsible for the glial cell imbalance as a possible source for future therapeutic interventions is given based on current experience on pro-oligodendroglial treatment approaches developed for demyelinating diseases, such as multiple sclerosis.

Síndrome de Down/metabolismo , Neuroglia/citologia , Neuroglia/metabolismo , Animais , Humanos , Receptores Notch/metabolismo , Substância Branca/citologia , Substância Branca/metabolismo
Clin Epigenetics ; 11(1): 195, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31843015


BACKGROUND: Trisomy 21 (T21) is associated with intellectual disability that ranges from mild to profound with an average intellectual quotient of around 50. Furthermore, T21 patients have a high risk of developing Alzheimer's disease (AD) early in life, characterized by the presence of senile plaques of amyloid protein and neurofibrillary tangles, leading to neuronal loss and cognitive decline. We postulate that epigenetic factors contribute to the observed variability in intellectual disability, as well as at the level of neurodegeneration seen in T21 individuals. MATERIALS AND METHODS: A genome-wide DNA methylation study was performed using Illumina Infinium® MethylationEPIC BeadChips on whole blood DNA of 3 male T21 patients with low IQ, 8 T21 patients with high IQ (4 males and 4 females), and 21 age- and sex-matched control samples (12 males and 9 females) in order to determine whether DNA methylation alterations could help explain variation in cognitive impairment between individuals with T21. In view of the increased risk of developing AD in T21 individuals, we additionally investigated the T21-associated sites in published blood DNA methylation data from the AgeCoDe cohort (German study on Ageing, Cognition, and Dementia). AgeCoDe represents a prospective longitudinal study including non-demented individuals at baseline of which a part develops AD dementia at follow-up. RESULTS: Two thousand seven hundred sixteen differentially methylated sites and regions discriminating T21 and healthy individuals were identified. In the T21 high and low IQ comparison, a single CpG located in the promoter of PELI1 was differentially methylated after multiple testing adjustment. For the same contrast, 69 differentially methylated regions were identified. Performing a targeted association analysis for the significant T21-associated CpG sites in the AgeCoDe cohort, we found that 9 showed significant methylation differences related to AD dementia, including one in the ADAM10 gene. This gene has previously been shown to play a role in the prevention of amyloid plaque formation in the brain. CONCLUSION: The differentially methylated regions may help understand the interaction between methylation alterations and cognitive function. In addition, ADAM10 might be a valuable blood-based biomarker for at least the early detection of AD.

Proteína ADAM10/genética , Doença de Alzheimer/genética , Secretases da Proteína Precursora do Amiloide/genética , Metilação de DNA , Síndrome de Down/genética , Epigenômica/métodos , Proteínas de Membrana/genética , Adulto , Doença de Alzheimer/diagnóstico , Cognição , Diagnóstico Precoce , Epigênese Genética , Feminino , Estudo de Associação Genômica Ampla , Alemanha , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos , Adulto Jovem
Aging (Albany NY) ; 11(24): 12202-12212, 2019 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-31860872


Abnormal ß-amyloid (Aß) levels were found in patients with Down syndrome (DS). However, Aß levels in patients with DS and DS with dementia (DSD) vary considerably across studies. Therefore, we performed a systematic literature review and quantitatively summarized the clinical Aß data on the cerebrospinal fluid (CSF) and blood of patients with DS and those with DSD using a meta-analytical technique. We performed a systematic search of the PubMed and Web of Science and identified 27 studies for inclusion in the meta-analysis. Random-effects meta-analysis indicated that the levels of blood Aß1-40 and Aß1-42 were significantly elevated in patients with DS compared with those in healthy control (HC) subjects. In contrast, there were no significant differences between patients with DS and those with DSD in the blood Aß1-40 and Aß1-42 levels. The CSF Aß1-42 levels were significantly decreased in patients with DS compared to those in HC subjects. Further, CSF Aß1-42 levels were significantly decreased in patients with DSD compared to those with DS, with a large effect size. Taken together, our results demonstrated that blood Aß1-40 and Aß1-42 levels were significantly increased in patients with DS while CSF Aß1-42, but not Aß1-40 levels were significantly decreased in patients with DS.

Doença de Alzheimer/sangue , Doença de Alzheimer/líquido cefalorraquidiano , Peptídeos beta-Amiloides/sangue , Peptídeos beta-Amiloides/líquido cefalorraquidiano , Síndrome de Down/sangue , Síndrome de Down/líquido cefalorraquidiano , Biomarcadores/sangue , Biomarcadores/líquido cefalorraquidiano , Humanos
PLoS Genet ; 15(12): e1008414, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31830031


Human nondisjunction errors in oocytes are the leading cause of pregnancy loss, and for pregnancies that continue to term, the leading cause of intellectual disabilities and birth defects. For the first time, we have conducted a candidate gene and genome-wide association study to identify genes associated with maternal nondisjunction of chromosome 21 as a first step to understand predisposing factors. A total of 2,186 study participants were genotyped on the HumanOmniExpressExome-8v1-2 array. These participants included 749 live birth offspring with standard trisomy 21 and 1,437 parents. Genotypes from the parents and child were then used to identify mothers with nondisjunction errors derived in the oocyte and to establish the type of error (meiosis I or meiosis II). We performed a unique set of subgroup comparisons designed to leverage our previous work suggesting that the etiologies of meiosis I and meiosis II nondisjunction differ for trisomy 21. For the candidate gene analysis, we selected genes associated with chromosome dynamics early in meiosis and genes associated with human global recombination counts. Several candidate genes showed strong associations with maternal nondisjunction of chromosome 21, demonstrating that genetic variants associated with normal variation in meiotic processes can be risk factors for nondisjunction. The genome-wide analysis also suggested several new potentially associated loci, although follow-up studies using independent samples are required.

Síndrome de Down/genética , Estudo de Associação Genômica Ampla/métodos , Não Disjunção Genética/genética , Aurora Quinase C/genética , Proteínas de Transporte de Cátions/genética , Criança , Síndrome de Down/etnologia , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Meiose , Mães , Oócitos , Estados Unidos/etnologia , Fator A de Crescimento do Endotélio Vascular/genética
Aquichan ; 19(4): e1946, July-Dec. 2019. tab, graf
Artigo em Inglês | LILACS, BDENF - Enfermagem, COLNAL | ID: biblio-1098043


ABSTRACT Objective: To evaluate the technique and duration of breastfeeding in healthy children and children with Down Syndrome (DS) using the breastfeeding observation form. Materials and methods: An observational study of a prospective cohort was carried out at the Clinical Hospital of Granada during 2015. The Study Group consisted of 40 children with DS and the control group was formed by each new-born with DS and a healthy new-born with the same characteristics of weight and gestational age was selected. The new-borns evaluated shared housing with the mother where the technique was valued during the first 5 days postpartum by a health professional. A bivariable analysis was performed to compare the groups using Student's T test for numerical variables and chi-square for categorical variables. Results: Lactogenesis onset was earlier in the DS group (92.5 % in the first 24 hours vs 20 %; p <0.001). It was observed that 60 % of the healthy children were breastfed for more than three months while in the group of babies with DS this time period was 47.5 %. Conclusions: The results of this study reveal that the breastfeeding technique presented at the beginning more difficulties in mothers of children with DS and it has been shown that technical errors influence the onset and duration of breastfeeding in mothers of these children.

RESUMEN Objetivo: evaluar la técnica y la duración de la lactancia materna (LM) en niños sanos y en niños con síndrome de Down (SD), a través del Formulario de observación del amamantamiento. Materiales y métodos: se realizó un estudio observacional de cohorte prospectivo en el Hospital Clínico de Granada, a finales de 2015. El grupo de estudio estuvo constituido por cuarenta pacientes con SD, y el grupo control se conformó por niños recién nacidos con dicha alteración y, en la misma cantidad, por niños sanos, con las mismas características de peso y edad gestacional. Los recién nacidos evaluados estuvieron en una habitación conjunta con la madre, donde el personal sanitario valoró la técnica durante los primeros cinco días posparto. Se realizó un análisis bivariante para comparar los grupos, utilizando el test t de Student para las variables numéricas, y el chi-cuadrado, para las categóricas. Resultados: la lactogénesis se produjo primero en el grupo sin SD (92,5 % en las primeras 24 horas vs 20 %; p<0,001). Se observó que el 60 % de los niños sanos mantuvieron la LM por más de tres meses, mientras que el grupo de bebés con SD logró en este tiempo el 47,5%. Conclusiones: la LM presentó, al inicio, más dificultades en las madres de niños con SD. Los errores técnicos influyen en el inicio y en el mantenimiento de la LM en las madres de estos niños.

RESUMO Objetivo: avaliar a técnica e a duração do aleitamento materno em crianças saudáveis ​​e crianças com síndrome de Down (SD), com a utilização do formulário de observação do aleitamento materno. Materiais e métodos: estudo de coorte prospectivo observacional, realizado no Hospital Clínico de Granada, em 2015. O grupo de estudo foi composto por 40 pacientes com SD e o grupo controle formado por recém-nascidos com essa alteração e com crianças saudáveis, considerando as mesmas características de peso e idade gestacional. Os recém-nascidos avaliados estavam em um quarto conjunto com a mãe, onde a técnica foi avaliada durante os primeiros cinco dias pós-parto pela equipe médica. Uma análise bivariada foi realizada para comparar os grupos, utilizando o teste t de Student para as variáveis numéricas e o qui-quadrado para as variáveis categóricas. Resultados: a lactogênese ocorreu primeiramente no grupo sem SD (92,5 % nas primeiras 24 horas vs 20 %; p <0,001). Tornou-se evidente que 60 % das crianças saudáveis mantiveram a amamentação por mais de três meses, enquanto no grupo de bebês com SD, esse tempo foi de 47,5 %. Conclusões: os resultados deste estudo revelam que a técnica de amamentação apresentou no início mais dificuldades em mães de crianças com SD e demonstrou que erros técnicos influenciam o início e a manutenção do aleitamento materno em mães dessas crianças.

Humanos , Lactente , Aleitamento Materno , Síndrome de Down , Criança , Enfermagem em Saúde Comunitária , Estudo Observacional , Cuidado do Lactente
Rev. cuba. obstet. ginecol ; 45(4): e440, oct.-dic. 2019. tab
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126709


RESUMEN Introducción: La pesquisa prenatal de anomalías cromosómicas, mediante el uso de marcadores epidemiológicos y ecográficos del primer trimestre permite identificar gestantes con riesgo incrementado de síndrome de Down. Objetivos: Analizar la edad materna, la translucencia nucal, el ductus venoso y el hueso nasal, durante el cribaje del primer trimestre, en las gestantes que se realizaron diagnóstico prenatal citogenético, con el fin de evaluar la efectividad del mismo en la detección temprana del síndrome Down y su utilidad para la reducción del número de pruebas invasivas. Métodos: Se realizó un estudio descriptivo retrospectivo de corte transversal y se analiza una muestra de 3439 gestantes a las que se realizó el estudio citogenético indicado en el Centro Provincial de Genética Médica de La Habana, en el período comprendido entre el 3 de enero de 2006 y el 30 de diciembre de 2008. Resultados: La edad materna avanzada mostró una sensibilidad de un 87 por ciento del test y una tasa de falsos positivos de 99 por ciento. La translucencia nucal se comportó con una sensibilidad de 10 por ciento. El hueso nasal no mostró asociación con los cariotipos positivos para síndrome de Down. Al no realizarse sistemáticamente la presencia del ductus venoso, no se pudo establecer una asociación estadística. La estimación de riesgo de síndrome de Down basada únicamente en la edad materna avanzada determina una alta tasa de falsos positivos. Por lo que este marcador, unido a la evaluación de los marcadores ecográficos del primer trimestre para recalcular el riesgo individual, puede aumentar la efectividad en el diagnóstico y disminuir el número de pruebas invasivas. Conclusiones: La estimación de riesgo de síndrome de Down basada únicamente en la edad materna avanzada determina una alta tasa de falsos positivos. Por lo que este marcador, unido a la evaluación de los marcadores ecográficos del primer trimestre para recalcular el riesgo individual, puede aumentar la efectividad en el diagnóstico y disminuir el número de pruebas invasivas(AU)

ABSTRACT Introduction: The prenatal investigation of chromosomal abnormalities through the use of epidemiological and echographic markers on the first trimester, allows to identify pregnant women with an increased risk of Down syndrome. Objectives: To analyze maternal age, nuchal translucency, venous ductus and nasal bone, during the first trimester screening, in pregnant women who underwent prenatal cytogenetic diagnosis, in order to evaluate effectiveness in early detection of Down syndrome and the value for reducing the number of invasive tests. Methods: A descriptive retrospective cross-sectional study was carried out and a sample of 3439 pregnant women was studied. The cytogenetic study ordered at Havana Provincial Center for Medical Genetics was carried out from January 3, 2006 to December 30, 2008. Results: Advanced maternal age showed 87 percent sensitivity and 99 percent of false positive rate. Nuchal translucency accounted 10 percent of sensitivity. The nasal bone showed no association with positive karyotypes for Down syndrome. A statistical association of the venous ductus presence could not be established since the search was not systematically. Conclusions: The estimation of Down syndrome risk based solely on advanced maternal age determines high false positive rate. Therefore, this marker, together with the evaluation of the first trimester ultrasound markers for recalculating the individual risk, can increase the diagnostic effectiveness and decrease the number of invasive tests(AU)

Humanos , Feminino , Gravidez , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Programas de Rastreamento/efeitos adversos , Síndrome de Down/diagnóstico , Medição da Translucência Nucal/métodos , Epidemiologia Descritiva , Estudos Transversais , Estudos Retrospectivos , Citogenética/métodos
Odontoestomatol ; 21(34): 46-55, Jul-Dic. 2019.
Artigo em Espanhol | LILACS, BNUY | ID: biblio-1024979


El Síndrome de Down (SD) o trisomía 21, es la anomalía congénita autosómica más frecuente cuya prevalencia mundial es de 10/10.000, en Chile de 2,5/1.000 nacidos vivos. Por trastornos de crecimiento, desarrollo e hipotonía muscular, las personas con SD presentan boca abierta con gran salivación, labio inferior evertido, elevación del labio superior en inactividad y descenso del ángulo de la boca. Objetivo: Evaluar la literatura sobre el tratamiento temprano de alteraciones orofaciales en niños con SD para prevenirlas o minimizarlas. Método: Búsqueda en base de datos PubMed y Scielo, sin discriminar año de publicación, idioma: inglés-español, seleccionando 26 artículos. Resultados: Existen cambios positivos en la función motora orofacial, observando mayores cambios en los casos más severos. Conclusiones: Un niño con SD se beneficia del tratamiento temprano, pero faltan estudios comparables en cuanto a duración, edad y tipo de terapia.

Down syndrome (DS) or trisomy 21 is the most frequent autosomal congenital anomaly, with a worldwide prevalence of 10/10,000; in Chile, the prevalence is 2.5/1,000 live births. People with DS present an open mouth with increased salivation, an everted lower lip, elevated and inactive upper lip, and lowering of the angle of the mouth on account of growth and development disorders, and muscular hypotonia. Objective: To evaluate the literature on the early treatment of orofacial alterations in children with DS to prevent or minimize them. Method: Search in PubMed and Scielo databases, regardless of the year of publication or language; 26 articles were selected. Results: There are positive effects on the orofacial motor function, observing significant changes in the most severe cases. Conclusions: A child with DS can benefit from early treatment, but there are insufficient comparable studies in terms of duration, age and type of therapy

A síndrome de Down (SD) ou a trissomia do cromossomo 21, é a anomalia congênita autossômica mais frequente, com prevalência global de 1 / 1.000, no Chile de 2.5 / 1.000 nascidos vivos. Devido aos distúrbios de crescimento, desenvolvimento e hipotonia muscular, as pessoas com SD apresentam boca aberta com grande salivação, lábio inferior evertido, elevação do lábio superior inativo e ângulo da boca mais baixo. Objetivo: Avaliar a literatura sobre o tratamento precoce dos distúrbios orofaciais em crianças com SD para prevenilas ou minimizá-las. Método: Pesquisa na base de dados PubMed e Scielo, sem discriminar ano de publicação, idioma: inglês-espanhol, selecionando 26 artigos. Resultados: Existem mudanças positivas na função motora orofacial, observando-se grandes alterações nos casos mais graves. Conclusões: Uma criança com SD se beneficia do tratamento precoce, mas faltam estudos comparáveis em termos de duração, idade e tipo de terapia.

Humanos , Criança , Síndrome de Down , Modalidades de Fisioterapia
Sex., salud soc. (Rio J.) ; (33): 101-117, set.-dez. 2019.
Artigo em Espanhol | LILACS | ID: biblio-1059083


Resumen La sexualidad es un proceso complejo, especialmente cuando se habla de personas con síndrome de Down. Por ello, el objetivo de este trabajo fue identificar las limitaciones sociales en el ejercicio de los derechos a la sexualidad de esta población. La revisión incluyó información de publicaciones de los años 2006 a 2019, de España, Argentina y Colombia. El análisis arrojó que entre las mayores limitaciones que condicionan la satisfacción de las necesidades afectivas y sexuales de las personas con síndrome de Down, se encuentran el trato infantil, la sobreprotección de sus familias, la reprensión y control excesivo, coerción de su autodeterminación y ausencia de una educación sexual; factores que limitan una inclusión real en la sociedad, pues consideran que son seres asexuados o por el contrario que su exacerbación sexual debe ser inhibida o controlada. Además, varios autores manifiestan que la educación para la sexualidad no se brinda desde la niñez, por miedo a despertar deseos que no se puedan controlar, situación que termina por coaccionar su desarrollo como persona, su inclusión social, el desarrollo de su calidad de vida y ser sujeto de derechos y deberes.

Resumo A sexualidade é um processo complexo, principalmente quando se fala de pessoas com síndrome de Down, portanto, o objetivo deste trabalho é identificar as limitações sociais no exercício dos direitos à sexualidade dessa população. A revisão inclui informações sobre publicações de 2006 a 2019, da Espanha, Argentina e Colômbia. A análise mostra que entre as principais limitações que condicionam a satisfação das necessidades emocionais e sexuais das pessoas com síndrome de Down, estão o tratamento infantil, superproteção de suas famílias, repressão e controle excessivo, coerção de sua autodeterminação e ausência de uma educação sexual; fatores que limitam uma inclusão real na sociedade, que os considera seres assexuais ou, pelo contrário, que sua exacerbação sexual deve ser inibida ou controlada. Além disso, vários autores afirmam que a educação para a sexualidade não é fornecida desde a infância, por medo de despertar desejos que não podem ser controlados, situação que acaba coagindo seu desenvolvimento como pessoa, sua inclusão social, o desenvolvimento de sua qualidade de vida e estar sujeito a direitos e deveres.

Abstract Sexuality is a complex process, especially when related to people with Down syndrome. This work identifies social limitations in this population's exercise of sexual rights. The review includes information from publications of the years 2006-2019 in Spain, Argentina and Colombia. The greatest constraints on the emotional and sexual needs of people with Down syndrome are their infantilization, overprotection from families, excessive repression and control, coercion of self-determination, and absence of sex education; factors that limit their real inclusion in society, which considers them asexual beings or that their sexual exacerbation must be inhibited or controlled. In addition, several authors state that sexual education is not provided, since childhood, for fear of arousing desires that cannot be controlled, a situation that ends up coercing their development as a person, their social inclusion, the development of a quality of life, and being subjects of rights and duties.

Humanos , Educação Sexual , Síndrome de Down , Sexualidade , Direitos Sexuais e Reprodutivos , Estigma Social , Direitos Humanos , Argentina , Qualidade de Vida , Espanha , Família , Colômbia
Acta méd. costarric ; 61(4): 177-182, oct.-dic. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1054728


Resumen Justificación: El síndrome de Down es la cromosomopatía más frecuente en Costa Rica y el mundo, así como la principal causa de discapacidad intelectual. La edad materna avanzada es el mayor factor de riesgo conocido para este padecimiento. El objetivo fue conocer la tendencia de síndrome de Down en nacidos vivos, según edad materna en Costa Rica. Métodos: Se realizó un estudio observacional de prevalencias de todos los casos de síndrome de Down nacidos vivos en Costa Rica entre 1996-2016, reportados al Centro Nacional de Registro de Enfermedades Congénitas, programa nacional de vigilancia de los defectos congénitos. Se determinó la tendencia y prevalencia en nacidos vivos según edad materna: < 20, 20-34 y 35 años o más, y según período: 1996-2007 y 2008-2016. Se realizó una regresión de Poisson, tomando como referencias el grupo 20-34 años y 1996-2002, y se compararon estimados mediante chi cuadrado de Wald. Se calculó la razón de prevalencias en madres ≥35 años y la fracción atribuible poblacional para este estrato. Por último, se comparó la tendencia del síndrome de Down con la tendencia de la tasa de fecundidad específica en madres ≥35 años en el país, para el período en estudio. Resultados: Para 1996-2016, la prevalencia de síndrome de Down en nacidos vivos fue de 1,02 x 1000 (IC95 %: 0,97-1,07). Hubo un aumento significativo de 0,91 (1996-2007) a 1,16 x 1000 (2008-2016), a expensas de la prevalencia en madres ≥35 años, la cual aumentó de 4,27 a 5,44 x 1000; mientras que la tasa de fecundidad en estas madres cayó significativamente de 20,15 x 1000 (IC95 %: 20,02-20,28) en 1996-2007, a 15,58 x 1000 (IC95 % 15,46-15,70) para o 2008-2016. La edad materna media en SD fue de 32,2 años, contra 25,5 años para la población general (p≤0,001). La razón de prevalencia ajustada por período, en madres de ≥35 años, contra madres de 20-34 años fue de 8,05 (IC95 % 7,25-8,95) y la fracción atribuible poblacional del 41,22 %. Conclusiones: La prevalencia al nacimiento de síndrome de Down en Costa Rica aumentó a expensas de la prevalencia en madres ≥35 años, pese a que la tasa de fecundidad específica en esas mujeres cayó significativamente. La inclusión del Hospital Nacional de Niños como institución de referencia nacional para este síndrome, dentro de la red de vigilancia de los defectos congénitos, pudo ser un factor determinante en el aumento de la prevalencia.

Abstract Justification: Down syndrome is the most frequent chromosomopathy in Costa Rica and the world, as well as the main cause of intellectual disability. Advanced maternal age is the main known risk factor for this condition. The objective was to know the trend of Down syndrome in live births according to maternal age in Costa Rica. Methods: A prevalence study was made of all Down syndrome cases, born alive in Costa Rica from 1996 to 2016 and reported to the Costa Rican Births Defects Register Center, a national program for the monitoring of congenital defects. The trend and prevalence in live births was determined, according to maternal age: <20, 20-34 and 35 years or more, and according to period: 1996-2007 and 2008-2016. A Poisson regression was carried out, taking as references the group 20-34 years and the period 1996-2002 and the results were compared Wald's chi-square. The prevalence ratio in mothers ≥35 years and the population attributable fraction was calculated for this stratum. Finally, the trend of Down syndrome was compared with the trend of the specific fertility rate in mothers ≥35 years. Results: For 1996-2016 the prevalence of Down syndrome in live births was 1.02 x 1000 (95% CI: 0.97-1.07). There was a significant increase from 0.91 (1996-2007) to 1.16 x 1000 (2008-2016), at the expense of the prevalence in mothers ≥35 years, which increased from 4.27 to 5.44 x 1000; while the fertility rate in these mothers fell significantly from 20.15 x 1000 (95% CI: 20.02-20.28) in 1996-2007, to 15.58 x 1000 (95% CI 15.46-15.70) in 2008-2016. Maternal age mean MS in SD was 32.2 years, versus 25.5 years in the general population (p≤0.001). The prevalence ratio adjusted by period, in mothers of ≥35 years, against mothers of 20-34 years was of 8.05 (95% CI 7.25-8.95) and the population attributable fraction was 41.22%. Conclusions: The livebirth`s prevalence of Down syndrome in Costa Rica increased for the study period, at the expense of prevalence in mothers ≥35 years, although the specific fertility rate in these women fell significantly. The inclusion of the National Children's Hospital - as a national reference institution for this syndrome - within the surveillance network of congenital defects, could be a determining factor in in prevalence rise.

Humanos , Prevalência , Idade Materna , Síndrome de Down , Síndrome de Down/epidemiologia , Costa Rica , Doenças Genéticas Inatas
Rev. Soc. Odontol. La Plata ; 29(57): 25-31, dic. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1049947


El síndrome de Down (SD) es un trastorno genético que se caracteriza por la presencia de un grado variable de discapacidad cognitiva, rasgos y características físicas peculiares, que también, repercuten a nivel estomatognático. Los autores presentamos un estudio clínico y descriptivo, detallando las características odontológicas y estomatognáticas más prevalentemente diagnosticadas en ochenta (80) pacientes que presentan SD, atendidos durante el lapso de 2 años en el consultorio externo del Hospital Bollini, ubicado en el Instituto Psicopedagógico Especial de la Ciudad de La Plata. Nuestro objetivo fue evaluar las manifestaciones clínico­epidemiológicas del paciente con SD, y cómo estas repercuten en el funcionamiento y estructura del sistema estomatognático

Down syndrome (DS) is a genetic disorder characterized by the presence of a variable degree of cognitive disability, features and peculiar physical characteristics, affecting them at the stomatognathic level. We present a clinical and descriptive study, detailing the dental and stomatognathic characteristics most prevalently diagnosed in 80 eighty patients with SD, treated during a period of 2 years in the outpatient clinic of Hospital Bollini, located in The Special Psycopedagogical Institute of the city of La Plata Our the objetive was evaluate the clinical and epidemiological manifestastations of the patient's of SD, and how these affect functioning and structure of the stomatognatic system

Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Anormalidades Dentárias , Síndrome de Down/complicações , Assistência Odontológica para Pessoas com Deficiências , Síndrome de Down
Rev. chil. pediatr ; 90(6): 589-597, dic. 2019. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1058189


INTRODUCCIÓN: La enfermedad celíaca (EC) en niños con síndrome de Down (SD) ha sido publicada por varios paí ses, sin que existan datos para Colombia. OBJETIVO: Determinar la frecuencia y factores relacionados de EC en niños con SD, comparado con un grupo de niños sin SD, analizando las manifestaciones clínicas, inmunológicas y genéticas. PACIENTES Y MÉTODO: Fueron estudiados 209 niños, 1-18 años de edad (8,4 ± 4,1 años; 55,5% sexo femenino): 97 con SD y 112 sin SD usando como marcador serológico los anticuerpos anti-transglutaminasa (tTG2); se estudiaron variables de edad, genero, raza, ori gen, peso, talla y síntomas digestivos. A los niños con tTG2 positivos, se les realizó biopsia duodenal y genotipo. Se estimó la proporción de niños con SD, sin SD y EC y su IC95%; medidas de tendencia central, análisis univariado y bivariado, siendo significativa una p < 0,05. RESULTADOS: Ocho niños con SD (8,2%) y 5 niños sin SD (4,5%) fueron tTG2 positivos (p = 0,200). Ninguno presentó deficiencia de IgA sérica. Un niño con SD presentó EC con Marsh II (1,0%); y 2 niños con SD (2,1%) y 2 sin SD (1,8%), presentaron EC potencial (p = 0,432). Tres niños fueron HLA-DQ2. Hubo mayor opor tunidad de presentar EC en el grupo de pre-escolares (OR = 6,14 IC95% = 0,41-87,35 p = 0,0462). CONCLUSIONES: La frecuencia de EC por biopsia intestinal en estos niños con SD es muy inferior a lo relatado en la literatura, estando asociada al pre-escolar, y siendo su principal alelo el DQ2, hallazgos similares a lo descrito a nivel mundial.

INTRODUCTION: Celiac disease (CD) in children with Down syndrome (DS) has been published by several countries, without available data for Colombia. OBJECTIVE: To determine the frequency and related factors of CD in children with DS, compared with a group of children without DS, analyzing the clinical, im munological, and genetic manifestations. PATIENTS AND METHOD: A total of 209 children between 1-18 years of age (8.4 ± 4.1 years, 55.5% female) were studied, 97 with DS and 112 without DS, using anti-transglutaminase antibodies as serological marker (tTG2). Variables of age, gender, race, ori gin, weight, height, and digestive symptoms were studied. Children with positive tTG2 underwent duodenal biopsy and genotype. The proportion of children with DS, without DS, and CD was esti mated and their 95% CI; measures of central tendency, univariate and bivariate analysis, considering a p < 0.05 significant. RESULTS: Eight children with DS (8.2%) and five children without DS (4.5%) were tTG2 positive (p = 0.200). None presented serum IgA deficiency. One child with DS presented CD with Marsh II (1.0%), and two children with DS (2.1%) and two without DS (1.8%), presen ted potential CD (p = 0.432). Three children were HLA-DQ2. CD was more likely in the preschool group (OR = 6.14 95%CI = 0.41-87.35 p = 0.0462). CONCLUSIONS: The CD frequency due to intestinal biopsy in children with DS is much lower than that reported in the literature, being associated with preschool, and having DQ2 as its main allele. These findings are similar to those described worldwide.

Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Doença Celíaca/complicações , Síndrome de Down/complicações , Doença Celíaca/diagnóstico , Doença Celíaca/epidemiologia , Síndrome de Down/epidemiologia , Colômbia/epidemiologia
Cuad. bioét ; 30(100): 315-329, sept.-dic. 2019.
Artigo em Espanhol | IBECS | ID: ibc-185244


La comunicación del diagnóstico de síndrome de Down tiene serias implicaciones éticas ya que la finalidad del mismo puede ser eugenésica o terapéutica. El objetivo de este artículo es, por un lado, resaltar el papel fundamental que desempeñan los profesionales sanitarios en la comunicación del diagnóstico y la posterior decisión de la madre. Por otra parte, se exponen las recomendaciones sobre la manera de comunicar un diagnóstico. Por último, se analiza el estado de la cuestión en España, para lo que se exponen los resultados de un estudio descriptivo transversal con una muestra de 352 madres en la que expresan, mediante una encuesta, sus experiencias personales sobre como han recibido la noticia. La conclusión a la que se llega es que la comunicación del diagnóstico de síndrome de Down se puede mejorar en muchos aspectos

Down Syndrome diagnosis communication has got serious ethical implications, since the aim thereof can be either eugenic or therapeutic. The purpose of this paper is, on the one hand, to highlight the fundamental role which sanitary professionals play in diagnosis communication and the subsequent decision of the mother. On the other, recommendations on the way to communicate a diagnosis are set out. Finally, in order to analize the state of play in Spain the results of a cross-sectional descriptive study with a sample of 352 mothers are exposed. In this study the mothers express, by means of a survey, their personal experiences of how they have received the news. It is concluded that the communication of Down syndrome diagnosis can be improved in many aspects

Humanos , Feminino , Comunicação em Saúde/ética , Síndrome de Down/diagnóstico , Diagnóstico Pré-Natal/ética , Confidencialidade , Responsabilidade pela Informação/ética , Cuidado Pós-Natal/ética , Estudos Transversais , Eugenia (Ciência) , Notificação aos Pais/ética
Nat Commun ; 10(1): 4991, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31676751


Overinhibition is assumed one of the main causes of cognitive deficits (e.g. memory impairment) in mouse models of Down syndrome (DS). Yet the mechanisms that drive such exaggerated synaptic inhibition and their behavioral effects remain unclear. Here we report the existence of bidirectional alterations to the synaptic inhibition on CA1 pyramidal cells in the Ts2Cje mouse model of DS which are associated to impaired spatial memory. Furthermore, we identify triplication of the kainate receptor (KAR) encoding gene Grik1 as the cause of these phenotypes. Normalization of Grik1 dosage in Ts2Cje mice specifically restored spatial memory and reversed the bidirectional alterations to CA1 inhibition, but not the changes in synaptic plasticity or the other behavioral modifications observed. We propose that modified information gating caused by disturbed inhibitory tone rather than generalized overinhibition underlies some of the characteristic cognitive deficits in DS.

Região CA1 Hipocampal/fisiologia , Dendritos/fisiologia , Síndrome de Down/fisiopatologia , Plasticidade Neuronal/fisiologia , Células Piramidais/fisiologia , Memória Espacial/fisiologia , Animais , Região CA1 Hipocampal/citologia , Modelos Animais de Doenças , Síndrome de Down/patologia , Feminino , Humanos , Masculino , Camundongos
J Pediatr Nurs ; 49: e74-e80, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31677829


PURPOSE: Children with Down syndrome (DS) are more likely to experience bladder bowel dysfunction (BBD) than typically developing children, which could in turn have a serious effect on children with DS and on their parents and other family members. This study aimed to explore the prevalence of BBD in Korean children with DS and its effect on parental quality of life (QOL). DESIGN AND METHODS: To assess BBD and parental QOL, we used self-administered questionnaires (Dysfunctional Voiding Symptom Score [DVSS], Rome IV criteria, and World Health Organization Quality of Life scale [WHOQOL-BREF]) for parents of children with DS. We collected data from 86 parents between September and October 2017 through an online community website. RESULTS: DVSS was elevated in 26.7% of the children with DS. Specifically, 14% had daytime urinary incontinence, and 33.7% had functional constipation. Moreover, 18.6% of children had BBD according to the DVSS and Rome IV criteria. The sensitivity and specificity of DVSS to functional constipation was 55.17% and 87.72%, respectively. The BBD score and total parental QOL score were statistically correlated (r = 0.291, p = 0.007). CONCLUSIONS: Although children with DS are a high-risk group for BBD, their BBD symptoms are often overlooked because of their intellectual disability. Consequently, this could negatively affect children's and family's health and QOL in the long term. PRACTICE IMPLICATIONS: Health-care providers should reconsider a routine check-up of BBD in children with DS. If a child has BBD, health-care providers should consult a urologist to determine the appropriate diagnosis and intervention.

Cuidadores/psicologia , Síndrome de Down/complicações , Incontinência Fecal/etiologia , Poder Familiar/psicologia , Qualidade de Vida , Transtornos Urinários/etiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Intervalos de Confiança , Constipação Intestinal/epidemiologia , Constipação Intestinal/etiologia , Constipação Intestinal/enfermagem , Estudos Transversais , Síndrome de Down/diagnóstico , Incontinência Fecal/epidemiologia , Incontinência Fecal/enfermagem , Feminino , Humanos , Masculino , Razão de Chances , Prevalência , Prognóstico , República da Coreia , Medição de Risco , Fatores Sexuais , Estresse Psicológico/epidemiologia , Inquéritos e Questionários , Transtornos Urinários/epidemiologia , Transtornos Urinários/enfermagem
Am J Hum Genet ; 105(6): 1091-1101, 2019 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-31708118


The Netherlands launched a nationwide implementation study on non-invasive prenatal testing (NIPT) as a first-tier test offered to all pregnant women. This started on April 1, 2017 as the TRIDENT-2 study, licensed by the Dutch Ministry of Health. In the first year, NIPT was performed in 73,239 pregnancies (42% of all pregnancies), 7,239 (4%) chose first-trimester combined testing, and 54% did not participate. The number of trisomies 21 (239, 0.33%), 18 (49, 0.07%), and 13 (55, 0.08%) found in this study is comparable to earlier studies, but the Positive Predictive Values (PPV)-96% for trisomy 21, 98% for trisomy 18, and 53% for trisomy 13-were higher than expected. Findings other than trisomy 21, 18, or 13 were reported on request of the pregnant women; 78% of women chose to have these reported. The number of additional findings was 207 (0.36%); these included other trisomies (101, 0.18%, PPV 6%, many of the remaining 94% of cases are likely confined placental mosaics and possibly clinically significant), structural chromosomal aberrations (95, 0.16%, PPV 32%,) and complex abnormal profiles indicative of maternal malignancies (11, 0.02%, PPV 64%). The implementation of genome-wide NIPT is under debate because the benefits of detecting other fetal chromosomal aberrations must be balanced against the risks of discordant positives, parental anxiety, and a potential increase in (invasive) diagnostic procedures. Our first-year data, including clinical data and laboratory follow-up data, will fuel this debate. Furthermore, we describe how NIPT can successfully be embedded into a national screening program with a single chain for prenatal care including counseling, testing, and follow-up.

Síndrome de Down/diagnóstico , Testes Genéticos/métodos , Genoma Humano , Implementação de Plano de Saúde , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adolescente , Adulto , Aberrações Cromossômicas , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Gravidez , Primeiro Trimestre da Gravidez , Prognóstico , Síndrome da Trissomia do Cromossomo 13/epidemiologia , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/epidemiologia , Síndrome da Trissomía do Cromossomo 18/genética , Adulto Jovem