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1.
Artigo em Inglês | MEDLINE | ID: mdl-33466470

RESUMO

The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing, and to identify sources frequently used for demographic assessment of Down Syndrome in the world. We reviewed existing studies on demographic transformations in the population with Down Syndrome, specifically birthrate indicators, under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. The searches were made in Medline (via EBSCO Host), Academic Search Complete (via EBSCO Host), PsycINFO (via EBSCO Host), Web of Science (Core Collection), Public Health Database (via ProQuest), and The Cochrane Library. The terms were developed through Medical Subject Headings (MESH) and American Psycological Asociation Thesaurus of Psychological Index Terms (APA). Full texts were reviewed if information was given regarding location and birthrate for a range of three years or more, and if the first and last year considered was within 1960 and 2019. We found 22 references with a period of study between 1960 and 2019 following the global spread of prenatal testing for Down Syndrome. We found a consistent association between prenatal diagnosis and birthrate, enough to explain the significant fall in the prevalence of Down Syndrome, a somewhat rising incidence of Down Syndrome related to increased maternal age and extension of fertility services in healthcare systems, a generalized use of specific congenital birth defect registries as the primary source of data, and an unclear influence of socio-cultural and territorial variables. Our findings can inform research, policy, and practice to improve the reproductive health and quality of life of the population with Down Syndrome.


Assuntos
Demografia , Síndrome de Down , Coeficiente de Natalidade , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiologia , Feminino , Humanos , Idade Materna , Gravidez , Diagnóstico Pré-Natal , Qualidade de Vida , Estados Unidos
2.
Artigo em Inglês | MEDLINE | ID: mdl-33466714

RESUMO

From a public health perspective, it is important that children with Down syndrome (DS) lay the foundations of physical activity (PA) early in life to keep active in school, as teenagers and as adults. The aims were to investigate PA patterns in children and adolescents with DS, as well as their parents' and siblings' PA patterns. METHODS: A survey was performed among 310 families with children with DS (54% boys and 46% girls) aged 8-18 years (mean 14.04, SD 3.18) in Sweden. Chi-squared tests and multiple logistic regression were carried out. RESULTS: Nineteen percent of children and adolescents with DS and 34% of the parents were active three or more times per week. The child's PA level was significantly associated with parents' PA (OR = 5.5), siblings' PA (OR = 5.1) and the child's locomotion ability (OR = 3.5). Physically active parents had active children to a greater extent than inactive parents (59% vs. 29%; p < 0.001). CONCLUSIONS: Physically active parents have active children. To promote PA among children and adolescents with DS, it is important to promote and pay attention to the parents' and siblings' PA behavior, as children with DS are dependent on support from the family.


Assuntos
Síndrome de Down , Adolescente , Adulto , Criança , Síndrome de Down/epidemiologia , Exercício Físico , Feminino , Humanos , Masculino , Comportamento Sedentário , Irmãos , Suécia/epidemiologia
3.
Am J Med Genet C Semin Med Genet ; 187(1): 70-82, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33385186

RESUMO

The COVID-19 pandemic necessitated a rapid transition from in-person office visits to virtual visits in the Down syndrome specialty program at Massachusetts General Hospital (MGH DSP). We describe the clinic transition to virtual visits in April 2020 and reflect on our six-month experience in virtual visits. Clinic metrics were tracked. Electronic survey responses were collected from caregivers attending virtual visits. Input from the MGH DSP team was collected. From April to September 2020, we maintained patient volume (45 visits per month) and overall satisfaction score (6.7 out of 7) following a sudden, unanticipated transition to virtual visits. Survey of 17 caregivers attending virtual visits found that most were equipped with technology, had access to a private location, and most were able to access visit without any limitations. Caregivers appreciated the convenience of virtual visits but sometimes missed the personal connection of an in-person visit. Overall, though, virtual visits were frequently viewed as no different than office visits. Team members identified benefits and challenges of virtual visits, as well as lessons learned from this transition. We were able to maintain multidisciplinary, specialty care with optimal caregiver feedback and sustained number of patient visits.


Assuntos
Síndrome de Down/epidemiologia , Padrões de Prática Médica/tendências , Telemedicina/métodos , Telemedicina/estatística & dados numéricos , Adolescente , Adulto , Cuidadores , Criança , Pré-Escolar , Síndrome de Down/diagnóstico , Síndrome de Down/terapia , Feminino , Humanos , Lactente , Comunicação Interdisciplinar , Masculino , Equipe de Assistência ao Paciente , Interface Usuário-Computador , Adulto Jovem
4.
Sci Rep ; 11(1): 1930, 2021 01 21.
Artigo em Inglês | MEDLINE | ID: mdl-33479353

RESUMO

SARS-CoV-2 infection has spread uncontrollably worldwide while it remains unknown how vulnerable populations, such as Down syndrome (DS) individuals are affected by the COVID-19 pandemic. Individuals with DS have more risk of infections with respiratory complications and present signs of auto-inflammation. They also present with multiple comorbidities that are associated with poorer COVID-19 prognosis in the general population. All this might place DS individuals at higher risk of SARS-CoV-2 infection or poorer clinical outcomes. In order to get insight into the interplay between DS genes and SARS-cov2 infection and pathogenesis we identified the genes associated with the molecular pathways involved in COVID-19 and the host proteins interacting with viral proteins from SARS-CoV-2. We then analyzed the overlaps of these genes with HSA21 genes, HSA21 interactors and other genes consistently differentially expressed in DS (using public transcriptomic datasets) and created a DS-SARS-CoV-2 network. We detected COVID-19 protective and risk factors among HSA21 genes and interactors and/or DS deregulated genes that might affect the susceptibility of individuals with DS both at the infection stage and in the progression to acute respiratory distress syndrome. Our analysis suggests that at the infection stage DS individuals might be more susceptible to infection due to triplication of TMPRSS2, that primes the viral S protein for entry in the host cells. However, as the anti-viral interferon I signaling is also upregulated in DS, this might increase the initial anti-viral response, inhibiting viral genome release, viral replication and viral assembly. In the second pro-inflammatory immunopathogenic phase of the infection, the prognosis for DS patients might worsen due to upregulation of inflammatory genes that might favor the typical cytokine storm of COVID-19. We also detected strong downregulation of the NLRP3 gene, critical for maintenance of homeostasis against pathogenic infections, possibly leading to bacterial infection complications.


Assuntos
/genética , Síndrome de Down/genética , /epidemiologia , /metabolismo , Síndrome da Liberação de Citocina/imunologia , Síndrome de Down/epidemiologia , Síndrome de Down/imunologia , Síndrome de Down/virologia , Redes Reguladoras de Genes , Interações entre Hospedeiro e Microrganismos , Humanos , Inflamação/imunologia , Pandemias , Fatores de Proteção , Fatores de Risco , /isolamento & purificação , Serina Endopeptidases/genética , Serina Endopeptidases/metabolismo , Transcriptoma/genética
6.
Medicine (Baltimore) ; 99(52): e23792, 2020 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-33350765

RESUMO

ABSTRACT: The present study aimed to analyze the positive rate of Down syndrome in second-trimester pregnant women in 1 lunar cycle and calculate variation coefficients of daily person numbers and daily positive rates in this population so as to explore the relationship of the lunar cycle with Down syndrome screening and its effects.Data and laboratory results of 51,450 second-trimester pregnant women who underwent Down syndrome screening between May 2013 and June 2017 of the Chinese lunar calendar were collected. The patients were allocated into groups according to the time period of the lunar cycle based on the start date of their last menstruation. In the Chinese lunar calendar, 1 lunar cycle is divided into eight time periods. The positive rate of Down syndrome in pregnant women with the same start date of last menstruation and changes in their variation coefficients of daily person numbers and daily positive rates were analyzed.The findings displayed the lowest positive rate of Down syndrome in the group of pregnant women who had the start date of last menstruation within the full-moon time period. The greatest variation coefficients of daily person numbers and daily positive rates were also found in the same group.The study showed that the moon indeed affected pregnant women, and the effect reached the peak by the full moon. The effect interfered with the body homeostasis of pregnant women to a certain degree. Therefore, the relationship of the lunar cycle with Down syndrome screening reflected the interaction of the moon with the homeostasis of pregnant women.


Assuntos
Síndrome de Down/diagnóstico , Homeostase/fisiologia , Lua , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Adulto , China , Correlação de Dados , Síndrome de Down/epidemiologia , Meio Ambiente , Feminino , Humanos , Menstruação , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos
7.
J Biol Regul Homeost Agents ; 34(4 Suppl. 2): 99-106, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33000608

RESUMO

This study examined the prevalence and distribution of elevated systolic pulmonary arterial pressure, measured by echocardiography, in young patients with down syndrome associated or not with congenital heart disease and surgical correction during childhood. Pulmonary artery systolic pressure, computed by regurgitant tricuspid flow velocity evaluation, is the most frequently used parameter for the screening of pulmonary hypertension. Down syndrome and congenital heart disease often coexist and the probability to detect elevated systolic pulmonary arterial pressure in this setting is high. However, little is known about the evaluation of pulmonary arterial pressure during growth of patients with down syndrome with or without congenital heart disease. We enrolled 47 young patients (55% of male sex; mean age: 18.4 ± 6.0 years), 40 with congenital heart disease and 7 without a cardiac defect. Systolic pulmonary arterial pressure was assessed by echocardiography. No difference was found in the population dichotomized by presence or absence of CHD. Only male sex (p=0.000), highly sensitive troponin-T (P=0.027), tricuspid annular plane systolic excursion (TAPSE, p=0.045) and sPAP (p=0.004) were elevated in surgical group. The ASD was found as, the most common structural abnormality in our patients (50%), followed by VSD (27.5%) and complex CHD (such as complete atrioventricular canal defect, CAVC = 25% and Fallot disease = 15%). Furthermore, about 45% of patients had the combined defect. Only 37.5% of patients underwent to corrective surgery during the first months of life. We observed a significantly increase of sPAP values in patients with complex CHD, such as CAVC (p=0.019) and Fallot disease (p=0.001) but, in the following multivariate analysis performed in the patients with CHD, only Fallot disease remains as independent predictors of elevated values of sPAP (p=0.022). An elevated systolic pulmonary arterial pressure may represent the key screening tool in the diagnostic assessment of suspect pulmonary arterial hypertension in high risk population with down syndrome regardless the presence of congenital heart disease.


Assuntos
Síndrome de Down , Cardiopatias Congênitas , Adolescente , Pressão Sanguínea , Criança , Síndrome de Down/complicações , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/epidemiologia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Humanos , Masculino , Prevalência , Artéria Pulmonar/diagnóstico por imagem , Adulto Jovem
9.
Nutr Metab Cardiovasc Dis ; 30(9): 1564-1572, 2020 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-32636123

RESUMO

BACKGROUND AND AIMS: We previously demonstrated that children with Down syndrome (DS) exhibited a greater risk of steatosis than the general pediatric population. This trend was independent of obese phenotype, thus suggesting a role of genetic predisposition. Therefore, we investigated the prevalence of non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome (MetS) in function of genetic susceptibility and adipocytokine levels in children with DS. METHODS AND RESULTS: A total of 84 Caucasian children with DS (age range 5-17 years), were included in this study. For all children, we collected data on anthropometric and biochemical parameters, and liver ultrasound (US). We also measured adipocytokines circulating levels and specific polymorphisms closed to NAFLD. We found a prevalence of 64.3% of liver steatosis at US, with a severe steatosis of about 4% in children with DS. The presence of steatosis in children with DS was associated with the presence of patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 variant, which also correlated with interleukin (IL)-6 levels. Moreover, we found that the 52.4% had a waist circumference > 90th percentile, 21.4% were hypertensive, 7.14% had hyperglycemia, 9.5% had hypertriglyceridemia, and 17.9% showed high-density lipoprotein cholesterol ≤ 40 mg/dl. Finally, the IL-6 and adiponectin levels correlated with steatosis, and several adipocytokines correlated with single MetS traits in children with DS. CONCLUSION: The present study explores for the first time potential pathomechanisms connecting pediatric NAFLD and MetS in DS. We found that the PNPLA3 variant is associated with steatosis, but not with MetS, in children with DS.


Assuntos
Síndrome de Down/genética , Lipase/genética , Proteínas de Membrana/genética , Síndrome Metabólica/genética , Hepatopatia Gordurosa não Alcoólica/genética , Polimorfismo de Nucleotídeo Único , Adiponectina/sangue , Adolescente , Fatores Etários , Biomarcadores/sangue , Glicemia/metabolismo , Criança , Pré-Escolar , Síndrome de Down/sangue , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiologia , Feminino , Predisposição Genética para Doença , Humanos , Interleucina-6/sangue , Lipídeos/sangue , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Hepatopatia Gordurosa não Alcoólica/sangue , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Fenótipo , Prevalência , Medição de Risco , Fatores de Risco , Roma/epidemiologia
11.
PLoS One ; 15(7): e0236087, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32697810

RESUMO

INTRODUCTION: The Emotional Quotient Inventory: Youth version-EQ-i:YV was developed by Bar-On & Parker in 2000 and later translated and adapted for the general Spanish adolescent population by Ferrandiz et al. in 2012. The Spanish scale presents similar psychometric properties to the original version (54 items and five subdimensions). The Emotional Quotient Inventory assesses a set of personal, emotional, and social skills that influence adaptation to and coping with environmental demands and pressures. These factors can influence an adolescent's success later in life, health, and psychological well-being. Traditionally, research in Down syndrome (DS) has focused on identifying cognitive deficits, relatively little is known about emotional intelligence (EI) and there are no scales that measure EI in people with DS adults. OBJECTIVES: To validate and analyze the psychometric properties of the scale in the clinical population, specifically in Spanish adults with DS (EQ-i: SVDS). METHODS: A cross-sectional investigation was carried out in several stages. Descriptive, exploratory factorial (n = 345), confirmatory (n = 397), and scale reliability analyses were performed with better goodness-of-adjustment indices. RESULTS: A new scale named Emotional Quotient Inventory: Short Version for DS adults was obtained with a structure of four factors called mood, stress management, interpersonal, and intrapersonal. This new scale was reduced to 25 items. Goodness-of-fit indices were excellent (RMSEA [95% CI] = 02[.01; .03]; CFI = .99; TLI = .98; GFI = .87; AGFI = .89). The internal consistency of the four dimensions and the calculated total score (α = .91, ω = .93 and divided halves = .90) yielded high values in this clinical sample. DISCUSSION: The results recommend the use of the revised EQ-i: YV, the EQ-i: SVDS, to assess EI in adults with DS. The psychometric properties of this study are satisfactory but have four factors. The findings are discussed in terms of future research and practical implication to gain a more thorough understanding of how this population behaves on both a general and preventive level in order to teach EI properly. CONCLUSIONS: This new version is a valid and reliable tool to evaluate emotional intelligence in people with intellectual disabilities and specifically in Spanish adults with DS.


Assuntos
Adaptação Psicológica , Síndrome de Down/psicologia , Inteligência Emocional/fisiologia , Psicometria/métodos , Adulto , Estudos Transversais , Síndrome de Down/epidemiologia , Análise Fatorial , Feminino , Humanos , Masculino , Espanha/epidemiologia , Inquéritos e Questionários , Adulto Jovem
12.
Lancet ; 395(10242): 1988-1997, 2020 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-32593336

RESUMO

BACKGROUND: Alzheimer's disease and its complications are the leading cause of death in adults with Down syndrome. Studies have assessed Alzheimer's disease in individuals with Down syndrome, but the natural history of biomarker changes in Down syndrome has not been established. We characterised the order and timing of changes in biomarkers of Alzheimer's disease in a population of adults with Down syndrome. METHODS: We did a dual-centre cross-sectional study of adults with Down syndrome recruited through a population-based health plan in Barcelona (Spain) and through services for people with intellectual disabilities in Cambridge (UK). Cognitive impairment in participants with Down syndrome was classified with the Cambridge Cognitive Examination for Older Adults with Down Syndrome (CAMCOG-DS). Only participants with mild or moderate disability were included who had at least one of the following Alzheimer's disease measures: apolipoprotein E allele carrier status; plasma concentrations of amyloid ß peptides 1-42 and 1-40 and their ratio (Aß1-42/1-40), total tau protein, and neurofilament light chain (NFL); tau phosphorylated at threonine 181 (p-tau), and NFL in cerebrospinal fluid (CSF); and one or more of PET with 18F-fluorodeoxyglucose, PET with amyloid tracers, and MRI. Cognitively healthy euploid controls aged up to 75 years who had no biomarker abnormalities were recruited from the Sant Pau Initiative on Neurodegeneration. We used a first-order locally estimated scatterplot smoothing curve to determine the order and age at onset of the biomarker changes, and the lowest ages at the divergence with 95% CIs are also reported where appropriate. FINDINGS: Between Feb 1, 2013, and June 28, 2019 (Barcelona), and between June 1, 2009, and Dec 31, 2014 (Cambridge), we included 388 participants with Down syndrome (257 [66%] asymptomatic, 48 [12%] with prodromal Alzheimer's disease, and 83 [21%] with Alzheimer's disease dementia) and 242 euploid controls. CSF Aß1-42/1-40 and plasma NFL values changed in individuals with Down syndrome as early as the third decade of life, and amyloid PET uptake changed in the fourth decade. 18F-fluorodeoxyglucose PET and CSF p-tau changes occurred later in the fourth decade of life, followed by hippocampal atrophy and changes in cognition in the fifth decade of life. Prodromal Alzheimer's disease was diagnosed at a median age of 50·2 years (IQR 47·5-54·1), and Alzheimer's disease dementia at 53·7 years (49·5-57·2). Symptomatic Alzheimer's disease prevalence increased with age in individuals with Down syndrome, reaching 90-100% in the seventh decade of life. INTERPRETATION: Alzheimer's disease in individuals with Down syndrome has a long preclinical phase in which biomarkers follow a predictable order of changes over more than two decades. The similarities with sporadic and autosomal dominant Alzheimer's disease and the prevalence of Down syndrome make this population a suitable target for Alzheimer's disease preventive treatments. FUNDING: Instituto de Salud Carlos III, Fundació Bancaria La Caixa, Fundació La Marató de TV3, Medical Research Council, and National Institutes of Health.


Assuntos
Doença de Alzheimer/metabolismo , Biomarcadores/sangue , Síndrome de Down/complicações , Adulto , Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/epidemiologia , Peptídeos beta-Amiloides/metabolismo , Amiloidose/diagnóstico por imagem , Amiloidose/patologia , Apolipoproteínas E/metabolismo , Estudos de Casos e Controles , Disfunção Cognitiva/psicologia , Estudos Transversais , Síndrome de Down/epidemiologia , Síndrome de Down/mortalidade , Síndrome de Down/psicologia , Fluordesoxiglucose F18/administração & dosagem , Humanos , Imagem por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Proteínas de Neurofilamentos/líquido cefalorraquidiano , Tomografia por Emissão de Pósitrons/métodos , Prevalência , Espanha/epidemiologia , Reino Unido/epidemiologia , Proteínas tau/metabolismo
14.
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
15.
Bull Cancer ; 107(6): 629-632, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32387061

RESUMO

Since the emergence of the SARS-CoV-2 infection, many recommendations have been made. However, the very nature of acute lymphoblastic leukemias and their treatment in children and adolescents led the Leukemia Committee of the French Society for the fight against cancers and leukemias in children and adolescents (SFCE) to propose more specific recommendations, even if data for this population are still scarce. They may have to evolve according to the rapid evolution of knowledge on COVID-19.


Assuntos
Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/epidemiologia , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/farmacocinética , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Antivirais/farmacocinética , Antivirais/uso terapêutico , Criança , Técnicas de Laboratório Clínico , Terapia Combinada , Comorbidade , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/prevenção & controle , Gerenciamento Clínico , Síndrome de Down/epidemiologia , Interações Medicamentosas , Neutropenia Febril/induzido quimicamente , Neutropenia Febril/tratamento farmacológico , Neutropenia Febril/prevenção & controle , Feminino , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Humanos , Hospedeiro Imunocomprometido , Masculino , Pandemias/prevenção & controle , Pneumonia Viral/diagnóstico , Pneumonia Viral/prevenção & controle , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Recidiva , Indução de Remissão , Risco , Medição de Risco , Terapia de Salvação , Avaliação de Sintomas
16.
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
18.
PLoS Med ; 17(2): e1003047, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-32092053

RESUMO

BACKGROUND: China implemented a partial two-child policy (2013) followed by a universal two-child policy (2015), replacing the former one-child policy mandated by the government. The changes affect many aspects of China's population as well as maternal and infant health, but their potential impact on birth defects (BDs) remains unknown. In this study, we investigated the associations of these policy changes with BDs in Zhejiang Province, China. METHODS AND FINDINGS: We used data from the BD surveillance system in Zhejiang Province, China, which covers 90 hospitals in 30 urban districts and rural counties, capturing one-third of the total births in this province. To fully consider the time interval between conception and delivery, we defined the one-child policy period as data from 2013 (births from October 2012 to September 2013), the partial two-child policy period as data from 2015 (births from October 2014 to September 2015), and the universal two-child policy period as data from 2017 (births from October 2016 to September 2017). Data from 2009 and 2011 were also used to show the changes in the proportion of births to women with advanced maternal age (35 years and older) prior to the policy changes. Main outcome measures were changes in the proportion of mothers with advanced maternal age, prevalence of BDs, rankings of BD subtypes by prevalence, prenatal diagnosis rate, and live birth rate of BDs over time. A total of 1,260,684 births (including live births, early fetal losses, stillbirths, and early neonatal deaths) were included in the analyses. Of these, 644,973 (51.16%) births were to women from urban areas, and 615,711 (48.84%) births were to women from rural areas. In total, 135,543 (10.75%) births were to women with advanced maternal age. The proportion increased by 85.68%, from 8.52% in 2013 to 15.82% in 2017. However, it had remained stable prior to policy changes. Overall, 23,095 BDs were identified over the policy changes (2013-2017). The prevalence of BDs during 2013, 2015, and 2017 was 245.95, 264.86, and 304.36 per 10,000 births, respectively. Trisomy 21 and other chromosomal defects increased in both risk and ranking from 2013 to 2017 (crude odds ratio [95% confidence interval] 2.13 [1.75-2.60], from ranking 10th to 5th, and 3.63 [2.84-4.69], from ranking 16th to 6th, respectively). The prenatal diagnosis rate increased by 3.63 (2.2-5.1) percentage points (P < 0.001), from 31.10% to 34.72%, and identification of BDs occurred 1.88 (1.81-1.95) weeks earlier (P < 0.001). The live birth rate for infants with BDs born before 28 gestational weeks increased from 1.29% to 11.45%. The major limitations of this observational study include an inability to establish causality and the possible existence of unknown confounding factors, some of which could contribute to BDs. CONCLUSIONS: In this study, we observed significant increases in maternal age and the prevalence of total and age-related anomalies following China's new two-child policy. Increases in live birth rate for infants with BDs born before 28 gestational weeks suggest that healthcare for very preterm births with BDs may be warranted in the future, as well as updating the definition of perinatal period.


Assuntos
Anormalidades Congênitas/epidemiologia , Política de Planejamento Familiar , Idade Materna , Adulto , China/epidemiologia , Transtornos Cromossômicos/epidemiologia , Anormalidades Congênitas/diagnóstico , Síndrome de Down/epidemiologia , Feminino , Humanos , Lactente Extremamente Prematuro , Nascimento Vivo/epidemiologia , Gravidez , Diagnóstico Pré-Natal/tendências , Prevalência
19.
Eur J Endocrinol ; 182(4): 385-392, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31999620

RESUMO

Objective: To evaluate the prevalence and natural course of autoimmune and non-autoimmune subclinical hypothyroidism (SH) in Down syndrome (DS) children and adolescents. Design: Prospective multicenter study. Methods: For the study, 101 DS patients with SH (TSH 5-10 mIU/L; FT4 12-22 pmol/L), aged 2-17 years at SH diagnosis were enrolled. Annual monitoring of TSH, FT4, BMI, height, and L-thyroxine dose was recorded for 5 years. Thyroid autoimmunity was tested at diagnosis and at the end of follow-up. Results: Thirty-seven out of 101 patients displayed autoantibody positivity (group A); the remaining 64 were classified as non-autoimmune SH (group B). Group A was characterized by higher median age at SH diagnosis and by more frequent family history of thyroid disease (6.6 vs 4.7 years, P = 0.001; 32.4% vs 7.8%, P = 0.001 respectively), whereas congenital heart defects were more common in group B (65.6% vs 43.2%, P = 0.028). Gender, median BMI (SDS), height (SDS), FT4, and TSH were similar in both groups. At the end of follow-up: 35.1% of group A patients developed overt hypothyroidism (OH) vs 17.2% of group B (P = 0.041); 31.25% of group B vs 10.8% of group A became biochemically euthyroid (P = 0.02); and 37.8% of group A vs 51.5% of group B still had SH condition (P = 0.183). Logistic regression suggested autoimmunity (OR = 3.2) and baseline TSH values (OR = 1.13) as predictive factors of the evolution from SH to OH. Conclusions: In DS children, non-autoimmune SH showed higher prevalence and earlier onset. The risk of thyroid function deterioration over time seems to be influenced by thyroid autoimmunity and higher baseline TSH values.


Assuntos
Síndrome de Down/epidemiologia , Doença de Hashimoto/epidemiologia , Tireoidite Autoimune/epidemiologia , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Síndrome de Down/complicações , Feminino , Doença de Hashimoto/complicações , Humanos , Masculino , Estudos Prospectivos , Tireoidite Autoimune/complicações
20.
J Pediatr ; 218: 138-145, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31928800

RESUMO

OBJECTIVES: To describe the mortality patterns, comorbidities, and attendance at accident and emergency departments among children with Down syndrome in Hong Kong. STUDY DESIGN: This is a population-based, retrospective cohort study of live births of children with Down syndrome delivered between 1995 and 2014, as identified from territory-wide hospitalization data in Hong Kong. The Kaplan-Meier product limit method was adopted to estimate the survival probabilities of children with Down syndrome by selected demographic and clinical characteristics. Cox regression analyses were conducted to examine associations of comorbidities and accident and emergency department accident and emergency departments attendances with mortality patterns. RESULTS: There were 1010 live births of children with Down syndrome in Hong Kong within the study period and the average rate of live births with Down syndrome was 8.0 per 10 000 live births (95% CI, 6.8-9.30). The rate of live births with Down syndrome over the past 2 decades decreased from 11.8 per 10 000 live births in 1995 to 3.4 per 10 000 in 2014. Eighty-three patients with Down syndrome died during this period. The overall 6-month and 1- and 5-year survival probabilities were 95.8%, 94.4%, and 92.6%, respectively. There was a significant decrease in mortality rates over the study period, particularly among those born between 2000-2004 and 2005-2009 compared with those born between 1995 and 1999 (P < .05). Patients with Down syndrome without congenital cardiovascular anomalies and without low birth weight had lower mortality rates than those with these diagnoses. CONCLUSIONS: Over the past 2 decades, the early life mortality of children with Down syndrome in Hong Kong has improved significantly along with a reduction in Down syndrome live births.


Assuntos
Síndrome de Down/epidemiologia , Síndrome de Down/mortalidade , Pré-Escolar , Síndrome de Down/complicações , Serviço Hospitalar de Emergência , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Hong Kong/epidemiologia , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Probabilidade , Modelos de Riscos Proporcionais , Estudos Retrospectivos
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