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1.
Gene ; 764: 145099, 2021 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-32861879

RESUMO

Down syndrome (DS, trisomy 21) is the most common major chromosomal aneuploidy compatible with life. The additional whole or partial copy of chromosome 21 results in genome-wide imbalances that drive the complex pathobiology of DS. Differential DNA methylation in the context of trisomy 21 may contribute to the variable architecture of the DS phenotype. The goal of this study was to examine the genomic DNA methylation landscape in myocardial tissue from non-fetal individuals with DS. >480,000 unique CpG sites were interrogated in myocardial DNA samples from individuals with (n = 12) and without DS (n = 12) using DNA methylation arrays. A total of 93 highly differentially methylated CpG sites and 16 differentially methylated regions were identified in myocardial DNA from subjects with DS. There were 18 differentially methylated CpG sites in chromosome 21, including 5 highly differentially methylated sites. A CpG site in the RUNX1 locus was differentially methylated in DS myocardium, and linear regression suggests that donors' age, gender, DS status, and RUNX1 methylation may contribute up to ~51% of the variability in RUNX1 mRNA expression. In DS myocardium, only 58% of the genes overlapping with differentially methylated regions codify for proteins with known functions and 24% are non-coding RNAs. This study provides an initial snapshot on the extent of genome-wide differential methylation in myocardial tissue from persons with DS.


Assuntos
Ilhas de CpG/genética , Metilação de DNA , Síndrome de Down/genética , Epigênese Genética , Miocárdio/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Cromossomos Humanos Par 21/genética , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Epigenômica , Feminino , Loci Gênicos/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Análise de Sequência de DNA , Adulto Jovem
2.
JAMA ; 324(15): 1509-1511, 2020 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-33079137
3.
JAMA ; 324(15): 1543-1556, 2020 10 20.
Artigo em Inglês | MEDLINE | ID: mdl-33079159

RESUMO

Importance: Down syndrome is the most common chromosomal condition, and average life expectancy has increased substantially, from 25 years in 1983 to 60 years in 2020. Despite the unique clinical comorbidities among adults with Down syndrome, there are no clinical guidelines for the care of these patients. Objective: To develop an evidence-based clinical practice guideline for adults with Down syndrome. Evidence Review: The Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup (n = 13) developed 10 Population/Intervention/ Comparison/Outcome (PICO) questions for adults with Down syndrome addressing multiple clinical areas including mental health (2 questions), dementia, screening or treatment of diabetes, cardiovascular disease, obesity, osteoporosis, atlantoaxial instability, thyroid disease, and celiac disease. These questions guided the literature search in MEDLINE, EMBASE, PubMed, PsychINFO, Cochrane Library, and the TRIP Database, searched from January 1, 2000, to February 26, 2018, with an updated search through August 6, 2020. Using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) methodology and the Evidence-to-Decision framework, in January 2019, the 13-member Workgroup and 16 additional clinical and scientific experts, nurses, patient representatives, and a methodologist developed clinical recommendations. A statement of good practice was made when there was a high level of certainty that the recommendation would do more good than harm, but there was little direct evidence. Findings: From 11 295 literature citations associated with 10 PICO questions, 20 relevant studies were identified. An updated search identified 2 additional studies, for a total of 22 included studies (3 systematic reviews, 19 primary studies), which were reviewed and synthesized. Based on this analysis, 14 recommendations and 4 statements of good practice were developed. Overall, the evidence base was limited. Only 1 strong recommendation was formulated: screening for Alzheimer-type dementia starting at age 40 years. Four recommendations (managing risk factors for cardiovascular disease and stroke prevention, screening for obesity, and evaluation for secondary causes of osteoporosis) agreed with existing guidance for individuals without Down syndrome. Two recommendations for diabetes screening recommend earlier initiation of screening and at shorter intervals given the high prevalence and earlier onset in adults with Down syndrome. Conclusions and Relevance: These evidence-based clinical guidelines provide recommendations to support primary care of adults with Down syndrome. The lack of high-quality evidence limits the strength of the recommendations and highlights the need for additional research.


Assuntos
Síndrome de Down/terapia , Adulto , Doença de Alzheimer/complicações , Doença de Alzheimer/epidemiologia , Doenças Cardiovasculares/complicações , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/prevenção & controle , Comorbidade , Complicações do Diabetes/epidemiologia , Síndrome de Down/complicações , Medicina Baseada em Evidências , Humanos , Programas de Rastreamento , Obesidade/complicações
5.
Rev. cuba. estomatol ; 57(3): e3060, jul.-set. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126525

RESUMO

RESUMEN Introducción: Durante la odontogénesis se pueden producir malformaciones congénitas que afectan la forma, el número, el tamaño, la estructura, la posición, el color y la erupción de los dientes. En las personas con discapacidades como parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista, pueden presentarse variedad de anomalías dentales. Objetivo: Describir las anomalías dentales en las condiciones de discapacidad de parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista. Métodos: Se realizó una búsqueda bibliográfica en las bases de datos Clinical Key, Medline, Dialnet y SciELO. Se aplicó la lista de comprobación PRISMA. Análisis e integración de la información: Posterior al proceso de lectura y análisis de la información, se recuperaron 800 artículos de las bases de datos, se eliminaron 590 por encontrarse repetidos. Luego de la discriminación, quedaron para revisar 210, a estos restantes se hizo la revisión de texto completo. Se eliminaron 193 no hacían referencia a anomalías dentales y/o a los trastornos o síndromes. De los 17 restantes, solo 15 cumplieron con los criterios de inclusión. Conclusiones: No se encontraron diferencias para afirmar que algunas de las anomalías y alteraciones presentadas correspondan de manera individual a cada tipo de discapacidad. Sin embargo, el síndrome de Down presenta anomalías dentales relacionadas al estado del paciente. La parálisis cerebral reporta otros hallazgos como bruxismo, debido al deficiente desarrollo muscular, lo que afecta la cavidad bucal y sus estructuras(AU)


ABSTRACT Introduction: During odontogenesis, congenital malformations can occur that affect teeth shape, number, size, structure, position, color and eruption. In people with disabilities such as cerebral palsy, intellectual development disorder, Down syndrome, and autism spectrum disorder, a variety of dental abnormalities can occur. Objective: To describe dental anomalies in such disability conditions as cerebral palsy, intellectual development disorder, Down syndrome and autism spectrum disorder. Methods: A bibliographic search was performed in the databases Clinical Key, Medline, Dialnet and SciELO. The PRISMA checklist was applied. Information analysis and integration: After reading and analyzing the information, 800 articles were retrieved from the databases, of which 590 were deleted because they were repeated. After the discrimination, 210 were pending to review; the remaining ones were reviewed full-text. 193 were deleted because they did not do any reference to dental anomalies and/or disorders or syndromes. Of the remaining 17, only 15 met the inclusion criteria. Conclusions: No differences were found to affirm that some of the anomalies and alterations presented correspond individually to each type of disability. However, Down syndrome has dental abnormalities related to patient condition. Cerebral palsy coincides with other findings such as bruxism, due to poor muscle development, which affects the oral cavity and its structures(AU)


Assuntos
Humanos , Anormalidades Dentárias/terapia , Anormalidades Congênitas/diagnóstico , Pessoas com Deficiência , Odontogênese/fisiologia , Literatura de Revisão como Assunto , Bases de Dados Bibliográficas , Síndrome de Down/diagnóstico , Transtorno do Espectro Autista/diagnóstico
8.
PLoS One ; 15(9): e0239040, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32915911

RESUMO

BACKGROUND: Individuals with Down syndrome are predisposed to a number of chronic health conditions, but the relationship between these conditions and cognitive ability is not clear. The primary objective of this systematic review is to assess this relationship by evaluating studies that measure cognitive performance in the context of Down syndrome-associated chronic health conditions. METHODS: A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines. Studies included in this review (1) included children, adolescent, and young adult participants with Down syndrome and one or more co-occurring health conditions; (2) were quantitative; and (3) reported outcomes related to both chronic health conditions and cognitive performance. A set of predetermined chronic health conditions that are common in Down syndrome (e.g. sleep disorders, congenital heart disease, thyroid disease, seizure disorders, and pulmonary hypertension) were selected based on prevalence rates in Down syndrome. RESULTS: Fifteen studies met inclusion criteria. The majority these of studies assessed cognitive performance in association with sleep disorders (47%) and congenital heart disease (47%). Fewer studies reported on the effect of thyroid disease (7%) and seizure disorders (7%) on cognitive ability. None of the studies reported cognitive outcomes related to pulmonary hypertension. Of the chronic health conditions evaluated, associations between sleep disorders and cognitive dysfunction were most common among individuals with Down syndrome. CONCLUSIONS: Individuals with Down syndrome exhibit deficits in cognitive ability, particularly related to attention, executive function and verbal processing. These deficits may be further exacerbated by the presence of chronic health conditions, particularly sleep disorders. Individuals with Down syndrome and co-occurring sleep disorders may benefit from early interventions to mitigate their risk for adverse cognitive outcomes.


Assuntos
Transtornos Cognitivos/complicações , Síndrome de Down/complicações , Síndrome de Down/psicologia , Adolescente , Doenças Cardiovasculares/complicações , Criança , Doença Crônica , Transtornos Cognitivos/psicologia , Epilepsia/complicações , Feminino , Humanos , Pneumopatias/complicações , Masculino , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/psicologia , Doenças da Glândula Tireoide/complicações , Adulto Jovem
10.
J. Hum. Growth Dev. (Impr.) ; 30(2): 197-208, May-Aug. 2020. ilus, tab
Artigo em Inglês | LILACS, Index Psicologia - Periódicos técnico-científicos | ID: biblio-1114928

RESUMO

BACKGROUNG: People with Down syndrome (DS) may present changes in the lipid profile. The objective of this research was to collect data from the literature on the lipid profile and the effect of exercise on this variable of people with DS. Five databases were searched (MedLine, Lilacs, EBSCO Host, Web of Science and PsycInfo) using terms related to the research objectives. At the end of the searches, 15 articles were included in the review. Five studies verified changes in the lipid profile and high incidence of dyslipidemias, with the most frequent changes being low HDL and elevated triglycerides. Two studies investigated the effect of intervention with exercise and counseling for health-friendly practices and found improvement mainly in HDL after the intervention period. Thus, the lipid profile should be investigated in people with DS and the practice of physical exercises can be used to control these variables


INTRODUÇÃO: Pessoas com síndrome de Down (SD) podem apresentar alterações no perfil lipídico. O objetivo desta pesquisa foi reunir dados da literatura sobre o perfil lipídico e o efeito do exercício sobre essa variável de pessoas com SD. Cinco bases de dados foram pesquisadas (MedLine, Lilacs, EBSCO Host, Web of Science e PsycInfo), utilizando termos relacionados aos objetivos da pesquisa. Ao final das buscas, 15 artigos foram incluídos na revisão. Cinco estudos verificaram alterações no perfil lipídico e incidência elevada de dislipidemias, sendo as alterações mais frequentes o baixo HDL e triglicérides elevados. Dois estudos investigaram o efeito de intervenção com exercícios físicos e com aconselhamento para práticas benéficas para saúde e verificaram melhora principalmente no HDL depois do período de intervenção. Assim, o perfil lipídico deve ser investigado em pessoas com SD e a prática de exercícios físicos pode ser utilizada para o controle destas variáveis


Assuntos
Humanos , Masculino , Feminino , Triglicerídeos , Exercício Físico , Colesterol , Síndrome de Down , Dislipidemias
11.
Pediatrics ; 146(Suppl 1): S3-S8, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32737225

RESUMO

One of the earliest controversies in the modern history of bioethics was known at the time as "the Hopkins Mongol case," involving an infant with Trisomy 21 and duodenal atresia whose parents declined to consent to surgery. Fluids and feeding were withheld, and the infant died of dehydration after 15 days. The child's short life had a profound impact on the author's career and that of several others and ultimately led to changes in the care of children and adults with disabilities and the way difficult end-of-life decisions are made in US hospitals today. It also contributed to the growth of the modern bioethics movement and scholarship focused on pediatric bioethics issues.


Assuntos
Temas Bioéticos , Tomada de Decisão Clínica/ética , Síndrome de Down/terapia , Pediatria/ética , Suspensão de Tratamento/ética , Comitês Consultivos/ética , Temas Bioéticos/história , Temas Bioéticos/legislação & jurisprudência , Crianças com Deficiência/legislação & jurisprudência , Síndrome de Down/história , Atresia Esofágica/história , Atresia Esofágica/terapia , Fundações , História do Século XX , Humanos , Recém-Nascido , Consentimento dos Pais/ética , Consentimento dos Pais/legislação & jurisprudência , Pais , Pediatria/legislação & jurisprudência , Assistência Terminal/ética , Suspensão de Tratamento/legislação & jurisprudência
12.
Pediatrics ; 146(Suppl 1): S9-S12, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32737226

RESUMO

The "Baby Doe" case of the early 1980s was marked by considerable controversy, primarily regarding the legal response of the federal government to the case at the time. In the decades that followed, the decision-making for children with trisomy 21, like Baby Doe, has been substantially reevaluated. The data, the assumptions about quality of life that were based on those data, and the ethical principles underpinning the decision-making in the Baby Doe case have all evolved significantly over time. The present strategies for decision-making for children with trisomy 13 and 18 appear to be following a similar pattern. The data, quality-of-life assumptions based on those data, and even the ethical principles underlying the decision-making for these children are currently being reexamined. Children with trisomy 13 and 18 are, in this regard, the next Baby Doe(s).


Assuntos
Tomada de Decisão Clínica/ética , Síndrome de Down/terapia , Síndrome da Trissomia do Cromossomo 13/terapia , Síndrome da Trissomía do Cromossomo 18/terapia , Desenvolvimento Infantil , Atresia Esofágica , Humanos , Recém-Nascido , Estimativa de Kaplan-Meier , Pais , Qualidade de Vida , Síndrome da Trissomia do Cromossomo 13/mortalidade , Síndrome da Trissomía do Cromossomo 18/mortalidade , Suspensão de Tratamento/ética , Suspensão de Tratamento/legislação & jurisprudência
14.
Curr Diab Rep ; 20(9): 47, 2020 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-32839884

RESUMO

PURPOSE OF REVIEW: An increased frequency of autoimmunity in children with Down syndrome (DS) is well described but few studies have investigated the underlying mechanisms. Recent immune system investigation of individuals with DS may shed light on the increased risk of autoimmune conditions including type 1 diabetes. RECENT FINDINGS: Diagnosis of type 1 diabetes is accelerated in children with DS with 17% diagnosed at, or under, the age of 2 years compared with only 4% in the same age group in the general population. Counterintuitively, children with DS and diabetes have less human leukocyte antigen (HLA)-mediated susceptibility than age-matched children with autoimmune diabetes from the general population. Early onset of diabetes in DS is further highlighted by the recent description of neonatal cases of diabetes which is autoimmune but not HLA associated. There are two potential explanations for this accelerated onset: (1) an additional chromosome 21 increases the genetic and immunological risk of autoimmune diabetes or (2) there are two separate aetiologies in children with DS and diabetes. Autoimmunity in DS is an under-investigated area. In this review, we will draw on recent mechanistic studies in individuals with DS which shed some light on the increased risk of autoimmunity in children with DS and consider the current support for and against two aetiologies underlying diabetes in children with DS.


Assuntos
Diabetes Mellitus Tipo 1 , Síndrome de Down , Ilhotas Pancreáticas , Autoanticorpos , Autoimunidade , Criança , Diabetes Mellitus Tipo 1/complicações , Síndrome de Down/complicações , Antígenos de Histocompatibilidade Classe II , Humanos , Sistema Imunitário
16.
Medicine (Baltimore) ; 99(28): e20753, 2020 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-32664068

RESUMO

Down syndrome (DS) is the leading cause of intellectual disability. Previous quantitative studies have examined the effects of DS on families of children with DS. This study explored the coping strategies adopted by the families of children with DS. This was a qualitative content analysis study, in which the participants were selected using purposive sampling from the families of children with DS. Semi-structured interviews were performed and collected data were analyzed. A total of 20 family members (10 mothers, 6 fathers, 2 brothers, and 2 sisters) were interviewed. Six categories were extracted in this study, namely "searching for information," "paying attention to children's healthcare needs," "concentration on spirituality," "teaching socially appropriate behavioral skills," "efforts to increase self-reliance in children," and "development of family support circle." The participating families were able to use positive adaptive mechanisms and cope well with the problems associated with having a child with DS. However, they still needed more support from healthcare providers and support organizations. Receiving more support from healthcare providers, such as nurses, can help them in better management of their children.


Assuntos
Adaptação Psicológica , Síndrome de Down , Família/psicologia , Adolescente , Adulto , Família/etnologia , Feminino , Humanos , Irã (Geográfico) , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa
17.
Medicine (Baltimore) ; 99(29): e21015, 2020 Jul 17.
Artigo em Inglês | MEDLINE | ID: mdl-32702842

RESUMO

BACKGROUND: Down syndrome (DS) also known as Trisomy 21, is a chromosomal disorder affecting approximately 1 in 732newborns annually in the United States. Children with DS are more likely to develop acute lymphoblastic leukemia (ALL). For the management of pediatric ALL, different treatment protocols have been set up since years. However, ALL children with coexisting DS have shown to have increased therapy-related toxicities compared to those without DS. Therefore, in this study, we aimed to systematically analyze the treatment outcomes in acute ALL children with versus without coexisting DS. METHODS: Electronic databases including the Web of Science, EMBASE, Cochrane Central, MEDLINE, http://www.ClinicalTrials.gov, and Google scholar were searched for publications reporting treatment related outcomes in ALL children with versus without co-existing DS. Several treatment protocols were used accordingly. This study had a long-term follow-up time period ranging from 5 to 10 years. The RevMan 5.3 software was used to carry out this analysis. Odds ratios (OR) with 95% confidence intervals (CI) were used to represent the results post analysis. RESULTS: A total number of 31,476 children with ALL enrolled between the years 1981 and 2011 were included. Among the total number of children with ALL, 1303 had coexisting DS. Our results showed that event-free survival was similar in ALL children with versus without DS (odds ratio [OR]: 1.34, 95% confidence interval [CI]: 0.51-3.50; P = .55). Overall mortality (OR: 1.63, 95% CI: 0.86-3.10; P = .13) and participants who achieved clinical remission (OR: 1.04, 95% CI: 0.12-9.29; P = .97) were also similarly manifested. However, treatment-related mortality (OR: 4.29, 95% CI: 2.90-6.36; P = .00001) and induction failure (OR: 2.77, 95% CI: 1.08-7.07; P = .03) were significantly higher in the DS group. Also, total (OR: 1.38, 95% CI: 1.02-1.88; P = .04) and bone marrow relapses (OR: 1.29, 95% CI: 1.00-1.67; P = .05) were significantly higher in ALL children with DS. Nevertheless, central nervous system relapse (OR: 1.15, 95% CI: 0.60-2.20; P = .67), testicular relapse (OR: 0.84, 95% CI: 0.38-1.85; P = .87), and other relapses (OR: 1.12, 95% CI: 0.27-4.62; P = .88) were not significantly different when these outcomes were separately analyzed. CONCLUSION: Based on this analysis of the treatment outcomes in ALL children with versus without DS, event-free survival, overall mortality, and patients who achieved clinical remission were similar during this long-term follow-up time period. However, due to the significantly higher treatment-related mortality, induction failure, and certain relapses in ALL children with DS, new guidelines might have to focus on reconsidering or modifying treatment regimens for ALL children with DS.


Assuntos
Síndrome de Down/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Humanos , Recidiva Local de Neoplasia , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Indução de Remissão , Falha de Tratamento
20.
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
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