Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 5.316
Filtrar
2.
Pediatrics ; 145(6)2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32471843

RESUMO

Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adaptive, cognitive, and social functioning in persons with DS usually in adolescence to early adulthood. Initially reported in 1946 as "catatonic psychosis," there has been an increasing interest among the DS community, primary care, and subspecialty providers in this clinical area over the past decade. This condition has a subacute onset and can include symptoms of mood lability, decreased participation in activities of daily living, new-onset insomnia, social withdrawal, autistic-like regression, mutism, and catatonia. The acute phase is followed by a chronic phase in which baseline functioning may not return. No strict criteria or definitive testing is currently available to diagnose DSDD, although a comprehensive psychosocial and medical evaluation is warranted for individuals presenting with such symptoms. The etiology of DSDD is unknown, but in several hypotheses for regression in this population, psychological stress, primary psychiatric disease, and autoimmunity are proposed as potential causes of DSDD. Both psychiatric therapy and immunotherapies have been described as DSDD treatments, with both revealing potential benefit in limited cohorts. In this article, we review the current data regarding clinical phenotypes, differential diagnosis, neurodiagnostic workup, and potential therapeutic options for this unique, most disturbing, and infrequently reported disorder.


Assuntos
Atividades Cotidianas/psicologia , Transtorno Autístico/epidemiologia , Transtorno Autístico/psicologia , Síndrome de Down/epidemiologia , Síndrome de Down/psicologia , Adolescente , Transtorno Autístico/diagnóstico , Catatonia/diagnóstico , Catatonia/epidemiologia , Catatonia/psicologia , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/psicologia , Síndrome de Down/diagnóstico , Feminino , Humanos , Masculino , Transtornos do Humor/diagnóstico , Transtornos do Humor/epidemiologia , Transtornos do Humor/psicologia , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Literatura de Revisão como Assunto
3.
Lancet Child Adolesc Health ; 4(6): 455-464, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32450124

RESUMO

Several features and comorbidities in Down syndrome have nutritional implications and consequences. In infancy and early childhood, children with Down syndrome have a high risk of oral motor difficulties and pharyngeal dysphagia with aspiration, which both require systematic attention. To improve nutritional status in children who are underweight and who have clinical signs of feeding problems, further evaluation of underlying causes is required. Clinical interventions should promote swallowing safety and development of feeding abilities. Even from 4-5 years of age, overweight in children with Down syndrome can be a concern. To prevent disease later in life, an urgent need exists for more research on nutritional aspects in the prevention and treatment of obesity in adolescents with Down syndrome. This Review did not find any data to support the use of dietary supplementation, except when deficiency is documented. Additionally, the literature reported the need for more research that uses larger study samples and control groups and that addresses important nutritional challenges in children and adolescents with Down syndrome.


Assuntos
Síndrome de Down/diagnóstico , Síndrome de Down/epidemiologia , Estado Nutricional , Sobrepeso/epidemiologia , Magreza/epidemiologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , Necessidades Nutricionais , Obesidade/epidemiologia , Medição de Risco
4.
Pediatr Surg Int ; 36(4): 477-483, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32114651

RESUMO

PURPOSE: Congenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down's syndrome, in around a third of infants. The aim of this study was to explore the impact of T21 on the epidemiology, management, and outcomes of infants with CDO. METHODS: Data were prospectively collected from specialist neonatal surgical centres in the United Kingdom over a 12 month period from March 2016 using established population-based methodology for all babies with CDO. Infants with T21 were compared to those without any chromosomal anomaly. RESULTS: Of 102 infants with CDO that underwent operative repair, T21 was present in 33 [32% (95% CI 23-41%)] babies. Cardiac anomalies were more common in those with T21 compared to those without a chromosomal anomaly (91 vs 17%, p < 0.001), whereas associated gastrointestinal anomalies were less common in infants with T21 (3 vs 12%, p = 0.03). Surgical management was not influenced by T21. Time to achieve full enteral feed, need for repeat related surgery, and mortality were similar between groups. Infants with T21 had a longer median initial inpatient stay (23 vs 16.5 days, p = 0.02). CONCLUSIONS: Infants with T21 have a higher incidence of cardiac anomalies and a longer initial inpatient stay; however, it does not change CDO management or outcomes. This information is important for prenatal and postnatal counselling of parents of infants with CDO and T21.


Assuntos
Anormalidades Múltiplas , Anormalidades do Sistema Digestório/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório , Síndrome de Down/diagnóstico , Obstrução Duodenal/congênito , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/epidemiologia , Obstrução Duodenal/epidemiologia , Obstrução Duodenal/cirurgia , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Reoperação , Estudos Retrospectivos , Reino Unido/epidemiologia
5.
Acta Obstet Gynecol Scand ; 99(6): 731-743, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32166736

RESUMO

INTRODUCTION: The objective of this study was to report on the clinical performance of non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 in twin pregnancies and to define the performance of NIPT by combining our cohort study results with published studies in a systematic meta-analysis. MATERIAL AND METHODS: A cohort study was carried out in the First Affiliated Hospital of Sun Yat-sen University and Kanghua Hospital. Meanwhile, searches of PubMed, EMBASE, The Cochrane Library and Web of Science for all relevant peer-reviewed articles were performed with a restriction to English language publication before 15 June 2019. Quality assessments were conducted with the Quality Assessment Tool for Diagnostic Accuracy Studies-2 checklist. Data analysis, heterogeneity, subgroup analysis and publication bias were carried out using META-DISC 1.4 and STATA 12.0. RESULTS: In all, 141 twin pregnancies included in our cohort study; confirmation revealed one true-positive case for trisomy 21 and 140 true-negative cases. The sensitivity and specificity for trisomy 21 by NIPT were both 100%. Twenty-two eligible studies were enrolled in this meta-analysis together with our study. There were 199 cases of trisomy 21, 58 cases of trisomy 18, 14 cases of trisomy 13 and 6347 cases of euploids in total. For trisomy 21, NIPT showed the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio were 0.99, 1.00, 145.81, 0.06 and 1714.09, respectively. For trisomy 18, the pooled sensitivity, specificity, positive likelihood ratio, negative likelihood ratio and diagnostic odds ratio were 0.88, 1.00, 200.98, 0.19 and 483.68, respectively. CONCLUSIONS: The performance of NIPT for trisomy 21 in twin pregnancy was excellent and it was similar to that reported in singleton pregnancy. However, due to publication bias (trisomy 18) and small number of cases (trisomy 13), accurate assessment of the predictive performance of NIPT for trisomies 18 and 13 could not be achieved.


Assuntos
Síndrome de Down/diagnóstico , Teste Pré-Natal não Invasivo , Gravidez de Gêmeos , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Adolescente , Adulto , Estudos de Coortes , Feminino , Humanos , Funções Verossimilhança , Gravidez , Sensibilidade e Especificidade , Adulto Jovem
6.
Biochem Genet ; 58(1): 74-101, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31273557

RESUMO

Chromosomal microarray (CMA) has emerged as a robust tool for identifying microdeletions and microduplications, termed copy number variants (CNVs). Nevertheless, data regarding its utility in different patient populations with developmental delay (DD), dysmorphic features (DF) and congenital anomalies (CA), is a matter of dense debate. Although regions of homozygosity (ROH) are not diagnostic of a specific condition, they may have pathogenic implications. Certain CNVs and ROH have ethnically specific occurrences and frequencies. We aimed to determine whether CMA testing offers additional diagnostic information over classical cytogenetics for identifying genomic imbalances in a pediatric cohort with idiopathic DD, DF, or CA. One hundred sixty-nine patients were offered cytogenetics and CMA simultaneously for etiological diagnosis of DD (n = 67), DF (n = 52) and CA (n = 50). CMA could identify additional, clinically significant anomalies as compared with cytogenetics. CMA detected 61 CNVs [21 (34.4%) pathogenic CNVs, 37 (60.7%) variants of uncertain clinical significance and 3 (4.9%) benign CNVs] in 44 patients. CMA identified one or more ROH in 116/169 (68.6%) patients. When considering pathogenic CNVs and aneuploidies as positive findings, 9/169 (5.3%) received a genetic diagnosis from cytogenetics, while 25/169 (14.8%) could have a genetic diagnosis from CMA. The identification of ROH was clinically significant in two cases (2/169), thereby, adding 1.2% to the diagnostic yield of CMA (16% vs. 5.3%, p < 0.001). CMA uncovers additional genetic diagnoses over cytogenetics, thereby, offering a much higher diagnostic yield. Our findings convincingly demonstrate the additive diagnostic value of clinically significant ROH identified during CMA testing, highlighting the need for careful clinical interpretation of these ROH.


Assuntos
Síndrome de Down/diagnóstico , Homozigoto , Síndrome de Klinefelter/diagnóstico , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome de Turner/diagnóstico , Adolescente , Criança , Pré-Escolar , Quebra Cromossômica , Estudos de Coortes , Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento/genética , Síndrome de Down/genética , Feminino , Humanos , Lactente , Recém-Nascido , Síndrome de Klinefelter/genética , Masculino , Análise de Sequência com Séries de Oligonucleotídeos/métodos , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/genética , Síndrome de Turner/genética
7.
Am J Obstet Gynecol ; 222(2): 185.e1-185.e17, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31394068

RESUMO

BACKGROUND: Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE: In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN: In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS: As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION: Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.


Assuntos
Hemoglobinas Anormais/genética , Hidropisia Fetal/diagnóstico , Amniocentese , Teorema de Bayes , Ácidos Nucleicos Livres , Amostra da Vilosidade Coriônica , Cordocentese , Síndrome de Down/diagnóstico , Feminino , Genótipo , Heterozigoto , Humanos , Hidropisia Fetal/genética , Teste Pré-Natal não Invasivo , Gravidez , Sensibilidade e Especificidade , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Talassemia alfa/diagnóstico , Talassemia alfa/genética
8.
Arch Dis Child ; 105(1): 47-52, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31243005

RESUMO

OBJECTIVE: To evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care. METHOD: We retrospectively reviewed data for all women with a singleton pregnancy attending for routine first trimester screening over an 18-month period. Women with a 'high-chance' of trisomy 21, 18 or 13 (≥1:150) were offered the choice of no further testing, NIPT or invasive testing, in line with the screening pathway recommended by the UK National Screening Committee. RESULTS: Of 9342 women attending for a first trimester ultrasound scan, 7939 women were included in this study. Of these, 352 had a high-chance screening result for trisomy 21, and 291 (82.7%) opted for NIPT. The proportion of women opting for NIPT decreased as the chance of trisomy 21 increased: uptake was 93.2%, 90.0%, 77.1% and 47.2% for women with a chance of 1:100-150, 1:50-99, 1:10-49 and >1:10, respectively. 516 women (5.5%) accessed primary NIPT screening in the private sector, and 638 women (6.8%) declined any aneuploidy screening or testing. CONCLUSION: Implementation of NIPT testing in a contingency model has a high uptake in a non-research National Health Service setting; the rate of uptake is related to the combined test risk result.


Assuntos
Aneuploidia , Comportamento de Escolha , Teste Pré-Natal não Invasivo , Adolescente , Adulto , Síndrome de Down/diagnóstico , Feminino , Humanos , Pessoa de Meia-Idade , Teste Pré-Natal não Invasivo/estatística & dados numéricos , Gravidez , Estudos Retrospectivos , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Reino Unido , Adulto Jovem
9.
Nursing (Säo Paulo) ; 23(262): 3745-3750, abr.2020.
Artigo em Português | LILACS, BDENF - Enfermagem | ID: biblio-1100639

RESUMO

Objetivo: compreender a vivência de mães de filhos com síndrome de Down. Método: pesquisa descritiva e exploratória, qualitativa, desenvolvida com mães de crianças diagnosticadas com Síndrome de Down acompanhadas pela Associação de Pais e Amigos dos Excepcionais. A coleta de dados se deu por meio de entrevistas por meio da técnica de história de vida oral. A análise de conteúdo subsidiou a análise dos dados. Resultados: participaram do estudo, seis mães de crianças com Síndrome de Down. Da análise emergiram três categorias: Vivenciando o diagnóstico de Síndrome de Down; as transformações no cotidiano e suas implicações; e, A assistência de saúde dispensadas as mães com crianças diagnosticadas com Síndrome de Down. Conclusão: pode-se compreender as vivências de mães de crianças diagnosticadas com Síndrome de Down. Identificou-se emoções e sentimentos experimentados no momento do diagnóstico, os quais perpassaram durante todo o desenvolvimento do filho e incidiram sobre o processo de maternagem.(AU)


Objective: to understand the experience of mothers of children with Down syndrome. Method: descriptive and exploratory, qualitative research, developed with mothers of children diagnosed with Down Syndrome accompanied by the Association of Parents and Friends of the Exceptional. Data collection took place through interviews using the oral life history technique. Content analysis supported the data analysis. Results: six mothers of children with Down syndrome participated in the study. Three categories emerged from the analysis: Experiencing the Down Syndrome diagnosis; The transformations in daily life and its implications; and, the health care provided to mothers with children diagnosed with Down Syndrome. Conclusion: the experiences of mothers of children diagnosed with Down Syndrome can be understood. Emotions and feelings experienced at the moment of diagnosis were identified, which permeated throughout the child's development and focused on the mothering process.(AU)


Objetivo: comprender la experiencia de madres de niños con síndrome de Down. Método: investigación cualitativa, descriptiva y exploratoria, desarrollada con madres de niños diagnosticados con Síndrome de Down acompañados por la Asociación de Padres y Amigos de los Excepcionales. La recolección de datos se realizó a través de entrevistas utilizando la técnica de historia de vida oral. El análisis de contenido apoyó el análisis de datos. Resultados: seis madres de niños con síndrome de Down participaron en el estudio. Del análisis surgieron tres categorías: experimentar el diagnóstico del síndrome de Down; Las transformaciones en la vida diaria y sus implicaciones; y, la atención médica brindada a madres con niños diagnosticados con Síndrome de Down. Conclusión: se pueden entender las experiencias de madres de niños diagnosticados con síndrome de Down. Se identificaron las emociones y los sentimientos experimentados en el momento del diagnóstico, que impregnaron todo el desarrollo del niño y se centraron en el proceso de maternidad.(AU)


Assuntos
Humanos , Serviços de Saúde da Criança , Síndrome de Down , Acontecimentos que Mudam a Vida , Relações Mãe-Filho , Síndrome de Down/diagnóstico , Emoções/ética
10.
PLoS One ; 14(12): e0225281, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31800591

RESUMO

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.


Assuntos
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
11.
Cuad. bioét ; 30(100): 315-329, sept.-dic. 2019.
Artigo em Espanhol | IBECS | ID: ibc-185244

RESUMO

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


Assuntos
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
12.
J Neurodev Disord ; 11(1): 39, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842726

RESUMO

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.


Assuntos
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
13.
BMC Health Serv Res ; 19(1): 898, 2019 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-31775720

RESUMO

BACKGROUND: To identify the most cost-beneficial model as a national policy of screening and diagnosis of fetal Down syndrome (DS) in developing countries. METHODS: Cost-benefit analysis (CBA) was performed based on the effectiveness and probabilities derived from a large prospective study on MSS (maternal serum screening) among Thai population. Various models including maternal age alone, STS (second trimester screen), I-S (independent screen: first or second trimester screen depending on the time of first visit), C-S (contingent serum screen) plus STS, maternal age with NIPS (non-invasive prenatal test), STS alone with NIPS, I-S with NIPS, C-S plus STS with NIPS, and Universal NIPS were compared. RESULTS: I-S with NIPS as a secondary screening was most cost-beneficial (Benefit/Cost ratio 4.28). Cost-benefit is directly related to the costs of NIPS. CONCLUSION: In addition to simplicity and feasibility, I-S with expensive NIPS as a secondary screening is the most cost-beneficial method for low resource settings and should be included in universal healthcare coverage as a national policy. This study could be a model for developing countries or a guideline for international health organizations to help low resource countries, probably leading to a paradigm shift in prenatal diagnosis of fetal DS in the developing world.


Assuntos
Países em Desenvolvimento , Síndrome de Down/diagnóstico , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/métodos , Análise Custo-Benefício , Feminino , Humanos , Gravidez , Estudos Prospectivos
14.
BMC Health Serv Res ; 19(1): 897, 2019 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-31775842

RESUMO

BACKGROUND: To identify the performance of fetal Down syndrome (DS) screening for developing countries. METHODS: A prospective study on MSS (maternal serum screening) with complete follow-ups (n = 41,924) was conducted in 32 network hospitals in the northern part of Thailand. Various models of MSS were tested for performance. RESULTS: MSS based on Caucasian reference range resulted in very high false positive rate (FPR; 13%) in our country, compared to the rate of 7.8% with our own (Thai) reference range, whereas the detection rate was comparable. As individual screening, C-S (contingent first trimester screening including PAPP-A, and free beta-hCG, classified as a) high risk [> 1:30], indicated for invasive diagnosis; b) intermediate risk [1:30-1500], indicated for STS; and c) low risk [< 1:1500], need no further tests.) was the most effective model (sensitivity 84.9%, FPR 7.7%) but nearly one-third needed the second trimester test (STS) because of intermediate results. Additionally, about one-third had their first visits in the second trimester and had no chance of FTS (first trimester screening). C-S plus STS had a sensitivity of 82.4% and FPR 8.1% whereas independent first and second trimester screening model (I-S) gave the sensitivity of 78.4% and FPR of 7.5% but was much more convenient and practical. CONCLUSION: C-S plus STS was the most effective models while I-S model was also effective and may be better for developing countries because of its simplicity and feasibility.


Assuntos
Países em Desenvolvimento , Síndrome de Down/diagnóstico , Testes para Triagem do Soro Materno , Diagnóstico Pré-Natal/métodos , Síndrome de Down/sangue , Feminino , Humanos , Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Tailândia
15.
PLoS One ; 14(11): e0225009, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31725777

RESUMO

BACKGROUND: Cognitive inhibition is one of the executive functions; this process over memory plays a fundamental role in recalling relevant information. The aims of this study were to understand the effects of maintenance load and stimuli on the operation of cognitive inhibition over memory in working memory tasks in adults with Down syndrome. METHOD: The study included 36 individuals with Down syndrome (mean age = 33.44 years, standard deviation = 7.54 years, 50% women) and 36 individuals with neurotypical development (mean age = 33.55 years, standard deviation = 7.52 years, 50% women). The participants performed a working memory task in which they had to solve an interference problem during the maintenance phase. RESULTS: The Down syndrome group performed worse on cognitive inhibition over memory than the neurotypical development group. Both groups had lower recall with interference and under high-load conditions. In the neurotypical development group, memory was similar with both materials. The Down syndrome group performed better with non-social stimuli than with social stimuli. CONCLUSIONS: Understanding the variables that influence cognitive inhibition over memory will help in planning effective interventions for people with Down syndrome. Considering the results, special importance should be placed on work with social stimuli, at least in individuals with Down syndrome.


Assuntos
Cognição , Síndrome de Down/psicologia , Função Executiva , Inibição Psicológica , Memória , Adulto , Análise de Variância , Síndrome de Down/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Adulto Jovem
16.
Am J Hum Genet ; 105(6): 1091-1101, 2019 12 05.
Artigo em Inglês | MEDLINE | ID: mdl-31708118

RESUMO

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.


Assuntos
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
17.
Spine Deform ; 7(6): 950-956, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31732007

RESUMO

STUDY DESIGN: Retrospective evaluation of cervical spine images from 2006-2012 for the purposes of "screening" children with Down syndrome for instability. OBJECTIVE: To determine whether a full series of cervical spine images including flexion/extension lateral (FEL) radiographs was needed to avoid missing upper cervical instability. SUMMARY OF BACKGROUND DATA: The best algorithm, measurements, and criteria for screening children with Down syndrome for upper cervical instability are controversial. Many authors have recommended obtaining flexion and extension views. We noted that patients who require surgical stabilization due to myelopathy or cord compression typically have grossly abnormal radiographic measurements on the neutral upright lateral (NUL) cervical spine radiograph. METHODS: The atlanto-dental interval, space available for cord, and basion axial interval were measured on all films. The Weisel-Rothman measurement was made in the FEL series. Clinical outcome of those with abnormal measurements were reviewed. Sensitivity, specificity, and positive and negative predictive values of NUL and FEL radiographs for identifying clinically significant cervical spine instability were calculated. RESULTS: A total of 240 cervical spine series in 213 patients with Down syndrome between the ages of 4 months and 25 years were reviewed. One hundred seventy-two children had an NUL view, and 88 of these patients also had FEL views. Only one of 88 patients was found to have an abnormal atlanto-dental interval (≥6 mm), space available for cord at C1 (≤14 mm), or basion axial interval (>12 mm) on an FEL series that did not have an abnormal measurement on the NUL radiograph. This patient had no evidence of cord compression or myelopathy. CONCLUSIONS: Obtaining a single NUL radiograph is an efficient method for radiographic screening of cervical spine instability. Further evaluation may be required if abnormal measurements are identified on the NUL radiograph. We also propose new "normal" values for the common radiographic measurements used in assessing risk of cervical spine instability in patients with Down syndrome. LEVEL OF EVIDENCE: Level IV.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Síndrome de Down/complicações , Instabilidade Articular/diagnóstico por imagem , Radiografia/métodos , Adolescente , Algoritmos , Articulação Atlantoaxial/diagnóstico por imagem , Articulação Atlantoaxial/fisiopatologia , Vértebras Cervicais/fisiopatologia , Vértebras Cervicais/cirurgia , Criança , Pré-Escolar , Síndrome de Down/diagnóstico , Síndrome de Down/patologia , Feminino , Humanos , Lactente , Instabilidade Articular/fisiopatologia , Instabilidade Articular/cirurgia , Masculino , Programas de Rastreamento/métodos , Valor Preditivo dos Testes , Amplitude de Movimento Articular/fisiologia , Estudos Retrospectivos , Sensibilidade e Especificidade , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/cirurgia , Doenças da Medula Espinal/etiologia , Doenças da Medula Espinal/cirurgia , Fusão Vertebral/métodos , Adulto Jovem
18.
Spine Deform ; 7(6): 957-961, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31732008

RESUMO

STUDY DESIGN: Retrospective case series. OBJECTIVES: To describe the indications and outcomes of cervical fixation using modern instrumentation in a case series of pediatric Down syndrome (DS) patients. SUMMARY OF BACKGROUND DATA: Cervical instability is the major cervical spine concern in children with DS. Although fixation techniques have advanced over the past quarter-century, the outcome of fixation with modern instrumentation for upper cervical instability in DS patients has not been thoroughly investigated. METHODS: We searched the orthopedic database at our institution for patients with a diagnosis of DS who had undergone a cervical spine fusion between 2006 and 2017. Patient demographics, diagnoses, surgical indications, surgical details, and complications were recorded. Preoperative imaging was reviewed to determine atlanto-dens intervals and spinal cord signal changes. Postoperative radiographs or CT scans were reviewed to determine union. RESULTS: Twelve DS patients met our inclusion criteria. The mean age at surgery was 9.3 years (range 3.8-18.8 years). Patients with secondary causes of instability included 7 patients with os odontoideum and 1 patient with a pars fracture. Three patients (25%) were identified on asymptomatic screening, with none of these having cord signal changes on magnetic resonance imaging (MRI). Modern implants (screws, plates, cages) were used in every patient in our series. The mean number of levels fused was 1.9 (range 1-5). The overall complication rate was 41.7% (5/12). Four patients required repeat surgery for nonunion. All patients with adequate radiographic follow-up demonstrated union (11/11, 100%). One patient was lost to follow-up. CONCLUSIONS: Fixation for cervical instability is a critical component of the management of DS. A minority of patients receiving surgery were identified through asymptomatic screening. There was a high complication risk associated with surgery in our study; however, the addition of rigid fixation has lessened the complication rate compared with previous studies. LEVEL OF EVIDENCE: Level IV.


Assuntos
Vértebras Cervicais/cirurgia , Síndrome de Down/complicações , Instabilidade Articular/etiologia , Instabilidade Articular/cirurgia , Fusão Vertebral/instrumentação , Adolescente , Articulação Atlantoaxial/diagnóstico por imagem , Articulação Atlantoaxial/fisiopatologia , Vértebra Cervical Áxis/diagnóstico por imagem , Vértebra Cervical Áxis/patologia , Parafusos Ósseos/normas , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/fisiopatologia , Criança , Pré-Escolar , Síndrome de Down/diagnóstico , Síndrome de Down/patologia , Humanos , Imagem por Ressonância Magnética/métodos , Período Pós-Operatório , Período Pré-Operatório , Radiografia/métodos , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Medula Espinal/diagnóstico por imagem , Medula Espinal/patologia , Fusão Vertebral/efeitos adversos , Fusão Vertebral/métodos , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento
19.
J Med Life ; 12(3): 221-224, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31666820

RESUMO

The last decade has seen incredible advances in the genetic era, in next-generation sequencing of cell-free DNA in the maternal plasma, detecting abnormal fetal chromosomes. Non-invasive prenatal testing (NIPT) has showed increased sensitivity and specificity for Down syndrome superior to any other screening test. Technical advances have made possible the detection of other conditions which does not necessarily mean clinical benefit for the patient. Private laboratories have added multiple conditions in the panel of NIPT, but some of these abnormalities are so rare, that their prevalence is not even clear. Data regarding clinical performance of extended NIPT is lacking. Implementation of such a test has to be carefully weighed, and not only the benefits but also the harm should be taken into account.


Assuntos
Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Aconselhamento , Síndrome de Down/diagnóstico , Feminino , Feto/diagnóstico por imagem , Feto/patologia , Humanos , Gravidez , Organização Mundial da Saúde
20.
Cuad Bioet ; 30(100): 315-329, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31618593

RESUMO

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 proffesionals play in diagnosis communication and the subsequent decission 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 experiencies of how they have received the news. It is concluded that the communication of Down syndrome diagnosis can be improved in many aspects.


Assuntos
Síndrome de Down/diagnóstico , Mães/psicologia , Diagnóstico Pré-Natal/ética , Revelação da Verdade/ética , Aborto Eugênico/ética , Adulto , Atitude , Estudos Transversais , Tomada de Decisões , Síndrome de Down/embriologia , Síndrome de Down/prevenção & controle , Síndrome de Down/psicologia , Emoções , Feminino , Humanos , Recém-Nascido , Relações Médico-Paciente , Gravidez , Diagnóstico Pré-Natal/psicologia , Distância Social , Espanha , Valor da Vida
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA