A síndrome de Down é uma anomalia cromossômica causada pela presença de uma terceira cópia (parcial ou total) do material genético do cromossomo 21 e que se caracteriza por deficiência intelectual variável, hipotonia muscular e frouxidão articular, frequentemente associada a um dismorfismo facial característico e diversas anomalias, como defeitos cardíacos, gastrointestinais ou endócrinos.
Introdução
O que você precisa saber de cara
A síndrome de Down é uma anomalia cromossômica causada pela presença de uma terceira cópia (parcial ou total) do material genético do cromossomo 21 e que se caracteriza por deficiência intelectual variável, hipotonia muscular e frouxidão articular, frequentemente associada a um dismorfismo facial característico e diversas anomalias, como defeitos cardíacos, gastrointestinais ou endócrinos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 102 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Condição cromossômica — cromossomo 21
Envolve alteração no cromossomo 21. O fenótipo resulta da alteração na dose de múltiplos genes simultaneamente — não há gene causal único. Diagnóstico por cariótipo, CMA ou FISH.
Down Syndrome Critical Region (DSCR): 21q22.13→q22.2. Genes DYRK1A, DSCAM, APP (Alzheimer precoce).
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Down
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Down
Centros para Síndrome Down
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Mostrando amostra de 200 publicações de um total de 8.946
The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
Esta revisão sistemática sobre a Arábia Saudita revela que pais e cuidadores de crianças com deficiência, incluindo síndrome de Down, frequentemente enfrentam uma qualidade de vida (QoL) diminuída, com mães sendo as mais afetadas. As dificuldades são predominantes nas esferas física, social e ambiental, e são agravadas por desemprego, baixa renda e acesso limitado a serviços de apoio. Para pacientes e médicos, é crucial reconhecer que o bem-estar dessas famílias é comprometido, exigindo intervenções de apoio direcionadas para melhorar sua QoL.
🇧🇷 traduzidoThe evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.
A terapia com células CAR T tem demonstrado notável sucesso no tratamento da leucemia linfoide aguda de células B (LLA-B) em crianças e jovens adultos, inclusive em populações complexas como as crianças com Síndrome de Down, onde proporciona remissões profundas e, muitas vezes, duradouras. No entanto, a persistência de recaídas em quase metade dos pacientes e a introdução de novas terapias exigem aprimoramentos contínuos para otimizar o uso das células CAR T, possivelmente mais cedo no tratamento, buscando maior durabilidade e segurança.
🇧🇷 traduzidoSucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
Este estudo revela que bebês com Síndrome de Down frequentemente apresentam hipotonia generalizada e padrões de sucção disfuncionais ou desorganizados (em 93% dos casos), mesmo quando nascem a termo. Isso ressalta a importância crítica de avaliações formais detalhadas da alimentação e deglutição, utilizando ferramentas clínicas, para determinar a prontidão para a alimentação oral e guiar intervenções baseadas em evidências que promovam uma alimentação segura e melhores resultados neurodesenvolvimentais.
🇧🇷 traduzidoIncreased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.
A Síndrome de Down, que causa deficiência intelectual, é associada a um desequilíbrio na excitação-inibição neuronal no cérebro. Este estudo em camundongos (modelo de SD) revelou um aumento marcante da inibição sináptica em áreas específicas dos dendritos das células granulares, enquanto a inibição no corpo celular pode estar reduzida ou inalterada. Essa descoberta sugere que o excesso de inibição em regiões específicas pode ser um alvo terapêutico promissor para restaurar o equilíbrio neuronal e, consequentemente, melhorar a função cognitiva em pessoas com Síndrome de Down.
🇧🇷 traduzidoSelective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.
Este estudo revelou que, em células da Síndrome de Down (que possuem uma cópia extra do cromossomo 21), a expressão de um gene específico (RWDD2B) nem sempre é proporcional ao número de cópias. Em vez disso, sua atividade é significativamente influenciada por variações genéticas (polimorfismos) e modificações epigenéticas (metilação) em apenas uma das cópias do cromossomo, o que pode levar a um "doseamento" funcional diferente do esperado. Embora a função do RWDD2B seja desconhecida, ele é ligado à osteoartrite e pode ter papéis na imunidade ou inflamação, áreas relevantes para a saúde de pessoas com Síndrome de Down.
🇧🇷 traduzidoPublicações recentes
DYRK1A and Parkinson's disease, facts and hypotheses.
Questions Matter: Investigating the Role of Caregiver Interactions in Children With Down Syndrome.
Association of Childhood Acute Leukemia With Autoimmune Diseases.
Community-acquired pneumonia mimicking tuberculosis in a patient with Down syndrome treated with adjunctive injectable corticosteroids.
Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder.
📚 EuropePMC13.105 artigos no totalmostrando 196
Respiratory syncytial virus - from discovery to vaccines.
Journal of medical microbiologyThe quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
Frontiers in pediatricsEducational attainment among primary school children with neurodisability: a population-based cohort study using linked education and health data from England.
Archives of disease in childhoodNeuropathological measures of increased tau phosphorylation across the Down syndrome lifespan.
Acta neuropathologicaPreoperative pulmonary hemodynamics and clinical decision making to determine operability and risk of long-term pulmonary hypertension in infants with open shunt under 1 year.
International journal of cardiologyCombining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID-G) for diagnosing cognitive decline in Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationTargeting lncRNA DSCAM-AS1 for disease diagnosis and therapy.
Non-coding RNA researchThe evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.
Molecular therapy. OncologyComplications of Adenotonsillectomy Surgery: Analysis of Pediatric Down Syndrome Patients in a Tertiary Center.
The Journal of craniofacial surgerySoft Tissue Surgical Technique for Obligate Dislocation of the Patella.
Ochsner journalFirst-Trimester Down Syndrome Screening in Renal-Transplanted Pregnant Women: Blood Creatinine Levels Impact False-Positive Rate.
Prenatal diagnosisPatterns, survival, and mortality predictors in children with down syndrome and congenital heart disease in resource-limited settings: a follow-up study.
BMC pediatricsSucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
Puerto Rico health sciences journalQuantitative analysis of DNA-GATA1 binding alterations linked to hematopoietic disorders.
The FEBS journalMeasurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [125I]IPPI and [125I]IBETA Autoradiography.
Synapse (New York, N.Y.)Strengthening Undergraduate Medical Education for Inclusive Health Care for People With Down Syndrome and Intellectual and Developmental Disabilities in Medical Schools: Protocol for a Scoping Review.
JMIR research protocolsIdentification of autosomal and sex chromosome aneuploidies using next generation sequencing.
Bioinformatics (Oxford, England)Positron emission tomography of neuroinflammation in Down syndrome and Alzheimer's disease: Current status and future perspectives.
Neural regeneration researchThe Amyloid Plaque Proteomes of Alzheimer's Disease and Mild Cognitive Impairment.
Research squareIncreased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.
Frontiers in cellular neuroscienceEvaluation of [18F]MK-6240 binding to tau protein in postmortem human brains of Down syndrome and Alzheimer's disease and assessment of off-target (non-tau) binding.
Acta neuropathologica communicationsDefinitive ileostomy in Total Colonic Aganglionosis: results and considerations from a single-center experience.
Journal of pediatric surgerySelective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.
American journal of human geneticsDietary Patterns and Lifestyle Factors as Determinants of Body Mass Index and Body Composition in Individuals with Down Syndrome-A Study Across Three Clinical Sites.
NutrientsThe Effects of Physical Therapy in the Rehabilitation of Motor Delays in Children with Down Syndrome: A Systematic Review.
Journal of clinical medicineBiologically Younger Individuals, as Identified by MARK-AGE Biological Age Scores, Display a Distinct Favourable Blood Chemistry Profile Regardless of Age.
Aging cellTransient Abnormal Myelopoiesis in a Non-Down Syndrome Infant With Subsequent Evolution to Acute Myeloid Leukemia.
Pediatric blood & cancerProphylactic Levofloxacin Use in Oncology and Hematopoietic Stem Cell Transplants for Children Under 2 Years of Age.
Journal of pediatric hematology/oncologyPredicting down syndrome: a comparative evaluation of nasal bone length in mid-trimester pregnancy.
BMC pregnancy and childbirthNail Disorders in Children With Down Syndrome: A Multicenter Study.
Pediatric dermatologyPediatric SleepNet: A Deep Learning Network for Reliable Pediatric Sleep Staging Across Developmental Stages.
SleepTinea Capitis and Down Syndrome: A Multi-Center Retrospective Cohort Study.
Pediatric dermatologyValidation of the sibling acceptance questionnaire among typically-developing emerging adult siblings of individuals with disabilities.
Frontiers in psychologyA Comparative Effectiveness Study of Lorazepam or IVIg Versus no Treatment for Down Syndrome Regression Disorder.
Neurology and therapyHigh Metabolic Syndrome Prevalence in Down Syndrome Children: Need for New Guidelines.
American journal of medical genetics. Part AValues of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.
Journal of intellectual disability research : JIDRImmediate Effect of LED Cluster on Masticatory Muscles in Children and Adolescents Diagnosed With Down Syndrome: A Pilot Study.
Journal of lasers in medical sciencesAcute kidney injury and chronic kidney disease in individuals with Down syndrome: a nationwide cohort study.
Clinical kidney journalGenetic analysis of triplicated genes affecting sex-specific skeletal deficits in Down syndrome model mice.
G3 (Bethesda, Md.)Nucleoli-localized KANSL2 as an epigenetic regulator of ribosome biogenesis in glioblastoma cells.
Communications biologyFamilial Robertsonian Translocation, rob(14;21), with high risk for Down syndrome.
Cytogenetic and genome researchElectroconvulsive Therapy in a Patient With Down Syndrome Regression Disorder and Inspire Device: A Case Report.
The journal of ECTWhen the Wires Cross Twice: A Case Report of the Perioperative Management of a Pediatric Patient With Both Abdominal Cardiac and Diaphragm Pacemakers.
A&A practiceA Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.
Journal of vitreoretinal diseasesDifferences in upper airway endotype among phenotypically different pediatric OSA patients.
Sleep medicineObstructive Sleep Apnea-Hypopnea Syndrome in Children With Down Syndrome Treated at a Tertiary Care Hospital in Northeastern Colombia.
CureusFormative evaluation of PREPARE for Autistic Adults: An adult autism training for resident physicians designed with autistic adults and family members.
Autism in adulthoodBetween care and collapse: the hidden health and emotional struggles of Saudi mothers of children with Down syndrome.
Frontiers in psychologySpontaneous remission of congenital acute megakaryoblastic leukemia in a neonate with down syndrome.
Open medicine (Warsaw, Poland)Estimation of the number of people with Down syndrome in Latin America and the Caribbean.
Genetics in medicine : official journal of the American College of Medical GeneticsMedicaid home and community based services are vital for adults with intellectual and developmental disabilities: A descriptive study of service use among all adult enrollees, 2022.
Disability and health journalPrognostic Value of Leuko-glycemic Index as a Marker of Immediate Postoperative Events After Repair of Complete Atrioventricular Septal Defect in Infants With Down Syndrome.
Journal of cardiothoracic and vascular anesthesiaEfficacy of bumetanide for cognitive improvement in children and adolescents with Down syndrome: study protocol of a randomised, double-blind, placebo-controlled trial.
BMJ openTongue strength and endurance in relation to oral cavity morphology among children with Down syndrome in the permanent dentition period.
Journal of the Indian Society of Pedodontics and Preventive DentistryA Population-Based Study of U.S. Trends in Selected Congenital Anomalies (2016-2023) and Socio-Demographic Disparities: A CDC WONDER Analysis.
Children (Basel, Switzerland)Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study.
Paediatric and perinatal epidemiologyNeuroinflammation as a driver of Down syndrome-associated Alzheimer's disease.
Brain, behavior, and immunitySocio-Ecological Factors of Physical Activity in Children and Adolescents With Down Syndrome: A Mixed-Methods Systematic Review.
Journal of intellectual disability research : JIDREstablishment and characterization of induced pluripotent stem cell lines from individuals with Down syndrome and age-matched euploid donors.
Stem cell researchInfants ≤24 weeks are not just smaller extremely preterm infants.
Journal of perinatology : official journal of the California Perinatal AssociationAdults with Down syndrome display altered entrainment of occipital cortical neurons.
Brain communicationsExperiences and Preferences With Pediatric Health Supervision Care Among Family Caregivers of Individuals With Down Syndrome.
Clinical pediatricsMulti-omics investigation of thyroid development and dysfunction in down syndrome.
Human molecular geneticsOphthalmic screening in down syndrome: A DSMIG UK Best practice recommendation (Revised 2025).
Eye (London, England)Detection, imaging and quantification of phosphoinositides using ion chromatography suppressed conductivity and mass spectrometry imaging.
Methods in enzymology[A woman with a very itchy rash].
Nederlands tijdschrift voor geneeskundeThe cholinergic system exerts opposing effects on memory at different stages of disease progression in Alzheimer's and Down syndrome model systems.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationLong-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.
Clinical and experimental pediatricsProsodic Imitation in Children With Down Syndrome: Evidence From Sentence Repetition and Pitch Contour Modeling.
American journal of speech-language pathologyDirected Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.
La Tunisie medicaleSearching for New Possible Peripheral Biomarkers of Cognitive Decline in Down Syndrome: The Role of IL-18 Pathway and its Interaction with TGF-β1 and TNF-α.
Neuromolecular medicineSurveying immune and inflammatory alterations in periodontitis among individuals with Down syndrome: A preliminary cross-sectional study.
Journal of periodontologyA Rare Dual Atresia Case Report Introducing Gastric Distension-Assisted Esophageal Approximation (GDEA): A Hypothetical Novel Technique for Long-Gap Esophageal Atresia.
International medical case reports journalDecoding Alzheimer's disease through down syndrome: insights from a genetically defined population.
Current opinion in neurologyHabilitative and rehabilitative educational interventions as protective factors against cognitive decline in adults with Down syndrome: A retrospective study.
L'EncephaleCommunicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.
Research in developmental disabilitiesCognitive Predictors of Adaptive Behaviour in Children With Down Syndrome: A Systematic Review.
Journal of applied research in intellectual disabilities : JARIDUp-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in a Drosophila model of fragile X syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaFactors impacting survival in individuals with Down syndrome-associated Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationIncidence and risk factors of respiratory events after tonsillectomy for obstructive sleep apnea in children with a preoperative indication of intensive care unit admission.
European journal of pediatricsParents' Experiences and Expectations From Physiotherapy for Children With Down Syndrome: A Scoping Review.
Journal of intellectual disability research : JIDRA rare intersection: Oral carcinoma cuniculatum in the context of Down syndrome.
Journal of oral and maxillofacial pathology : JOMFPAssessment of cognitive function in individuals with Down syndrome and dementia: a systematic review.
Dementia & neuropsychologiaLoss of cystathionine-β-synthase contributes to elevated OXPHOS, a vulnerability in Ara-C-resistant Myeloid Leukemia in Down syndrome.
Biochemical pharmacologySpatial abilities in aging adults with Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationObstructive sleep apnea in adults with Down syndrome: body composition, metabolic profile and cognitive status.
Clinics (Sao Paulo, Brazil)Multi-level surgery for obstructive sleep apnoea in syndromic and non-syndromic paediatric patients - A systematic review and meta-analysis.
Sleep medicineDoes First-Line Treatment Impact Outcomes in Trisomy 21-Associated Infantile Epileptic Spasms Syndrome? A Multicenter North American Analysis.
Pediatric neurologyThe Experience of Depression, Self-Efficacy, and Family Functioning Among Mothers of Children with Autism Spectrum Disorder: A Mixed Methods Study [Formula: see text].
Journal of the American Psychiatric Nurses AssociationImpact of National Screening Programs on Down syndrome prevalence and outcomes.
Acta obstetricia et gynecologica ScandinavicaSecond trimester quad test for fetal down syndrome screening as a predictor of spontaneous preterm birth in a developing country: a population-based study.
BMC pregnancy and childbirthCase report: acute phosphine inhalation poisoning in a patient with down's syndrome.
International journal of emergency medicineEvolving Alzheimer's Disease Clinical Practice: Updated Diagnostic Criteria, Fluid Biomarkers, and Special Considerations for Anti-Amyloid Therapies.
Psychiatry investigationDelirium and adverse clinical outcomes: a matched cohort study in the UK Biobank.
The lancet. Healthy longevityProbable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome.
NeurogeneticsTrisomy 21 alters ciliary localization of Sonic Hedgehog signaling proteins.
bioRxiv : the preprint server for biologyLeucettinib-21 decreases dosage effects of DYRK1A in human trisomy 21 iPSC-derived neural cells.
bioRxiv : the preprint server for biologyUptake of HPV vaccination and associated factors in France: a nationwide study from 2007 to 2023.
VaccineLevetiracetam prevents Aβ production through SV2a-dependent modulation of APP processing in Alzheimer's disease models.
Science translational medicineFour women whose pioneering contributions to science have been largely overlooked.
eLifeImpaired BDNF-TrkB trafficking and signalling in Down syndrome basal forebrain neurons.
Cell death & diseaseTransient Abnormal Myelopoiesis with Myeloid Cell Thrombus in a Case of Down Syndrome: A Rare Placental Finding.
American journal of perinatologySod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling.
bioRxiv : the preprint server for biologyOral hygiene and caries experience in children with down syndrome and autism spectrum disorder: a systematic review and meta-analysis.
Frontiers in dental medicineDeep Learning-Based Eye Rubbing Detection Using Wrist-Based Wearable Devices to Enable Rigorous Study of Risk Factors for Ectasia Progression.
CorneaSwallowing characteristics in Down syndrome at an advanced age: a preclinical study in the Ts65Dn mouse model.
Frontiers in neurologyGene dosage imbalance disrupts systemic metabolism in the Dp16 Down syndrome mouse model.
bioRxiv : the preprint server for biologySOD1 at the Crossroads: Co-Overexpression of Canonical Antioxidant Response and Noncanonical Hydrogen Sulfide Generation Pathways in Down Syndrome, With Immune Cell Implications.
Research squareTranscranial Photobiomodulation for Neuromodulation of Brain Disorders: A Perspective.
Neuromodulation : journal of the International Neuromodulation SocietyChild Deictic Gesture Use and Maternal Labeling in Toddlers With Down Syndrome.
American journal of speech-language pathologyParental perceptions and attitudes towards the inclusion of children with neurodevelopmental, physical and sensory disabilities.
Frontiers in psychiatryTemporal dynamics of white matter hyperintensities related to Alzheimer's disease in adults with Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationLife expectancy of people with intellectual disability: a retrospective cohort study from New South Wales, Australia.
BMJ openCamp-based entertainment rehabilitation for young people with down syndrome in Saudi Arabia.
Research in developmental disabilitiesDoes a TEOAE refer / AABR pass profile at the neonatal hearing screening indicate risk?
International journal of pediatric otorhinolaryngologyCaregiver-reported social impacts in down syndrome regression disorder.
PloS oneBrain aging in neurodevelopmental disorders: a narrative review of oxidative, inflammatory, and mitochondrial mechanisms.
Neurodegenerative disease management[Obstructive sleep apnoea in children with Down s syndrome: challenges and treatment strategies].
Nederlands tijdschrift voor tandheelkundeValidity and reliability of a scale of activities of daily living at home in children, youth and adults with Down syndrome in Chile.
Journal of health, population, and nutritionSingle cell analysis of developing Merkel cells reveals the emergence of non-coding RNA biotypes as a hallmark of terminal differentiation.
Cell death and differentiationOutcomes of an Exercise Intervention in Adults With Down Syndrome and Congenital Heart Disease: A Secondary Analysis.
Journal of intellectual disability research : JIDRGeneration of an induced pluripotent stem cell line (AHMUCNi004-A) from a 14-year-old male with Down syndrome.
Stem cell researchAdjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.
MedicineDown syndrome birth rate post Dobbs decision: has it changed?
Journal of perinatology : official journal of the California Perinatal AssociationAttitudes Towards Medical Research Participation Among Those With Down Syndrome and Their Caregivers.
Journal of policy and practice in intellectual disabilitiesMuscle Thickness in Lower Extremity and Locomotor Functions in Children With Down Syndrome and Typical Developing Peers.
Journal of intellectual disability research : JIDRThe Wnt/β-catenin pathway maintains homeostasis of amniocytes in Down syndrome.
BMC molecular and cell biologyIntracerebral age-independent reduction of endothelium-dependent hyperpolarization and nitric oxide signalling in the Dp16 mouse model of Down syndrome.
The Journal of physiologyAssociations between receptive and expressive vocabulary and early literacy in young students with intellectual disabilities using AAC.
Research in developmental disabilitiesDYRK1A Expression and Thyroid Dysfunction in Subjects With Down Syndrome.
Clinical endocrinologySerum and cerebral folate are normal in Down Syndrome Regression Disorder.
Molecular autismmiRNAs mediated Hsa21 gene suppression as potential therapeutic agent for Down syndrome: molecular dynamics and MM/PBSA-based study.
Journal of molecular modelingThe characteristics and surgical outcomes of atlantoaxial instability in pediatric patients with Down syndrome: a case-match study.
Journal of pediatric orthopedics. Part BViews of Facial Attractiveness of Faces of Individuals With and Without an Intellectual Disability.
Journal of applied research in intellectual disabilities : JARIDExploring behavioral dynamics: an in-depth analysis of adult students with disabilities.
Frontiers in rehabilitation sciencesPrevalence, Spectrum, and Management of Thyroid Dysfunction in Children with Down Syndrome: A Retrospective Study from Southern Saudi Arabia.
Children (Basel, Switzerland)A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor.
International journal of molecular sciencesPrevalence of Functional Constipation in Children with Down Syndrome: A Study Conducted at a General Pediatrics Service.
BiomedicinesMoving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.
CancersCharacterizing Autism Traits in Toddlers with Down Syndrome: Preliminary Associations with Language, Executive Functioning, and Other Developmental Domains.
Behavioral sciences (Basel, Switzerland)Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.
Brain sciencesThe Effects of Cognitive-Motor Dual-Task Exercise and Exergaming on Balance and Functional Mobility in Children with Down Syndrome: A Comparative Randomized Trial.
Brain sciencesShared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.
Brain sciencesSome Biomechanical and Anthropmetric Differences Between Elite Swimmers with Down Syndrome and Intellectual Disabilities.
Sports (Basel, Switzerland)New Digital Workflow for the Use of a Modified Stimulating Palatal Plate in Infants with Down Syndrome.
Dentistry journalTechnical nuances of a posterior transdural approach for resection of a compressive retro-odontoid cyst with 2D operative video and graphical illustration: illustrative case.
Journal of neurosurgery. Case lessonsGATA1 N-terminus coordinates metabolic reprogramming in erythropoiesis.
BloodDevelopment of a novel MSRE-dPCR assay for non-invasive prenatal testing of trisomy 21.
Analytical methods : advancing methods and applicationsThe Dp16 Down syndrome mouse model does not exhibit oral interferon-gammopathy or susceptibility to oral candidiasis.
mBioEvaluation of a Co-Research Program: optimising engagement in research.
British journal of learning disabilitiesExamining associations between foundational and complex mathematics skills in people with Down syndrome and typically developing children.
The British journal of developmental psychologyGeneration and Exosomal Noncoding RNA Profiling of Down Syndrome-Specific Induced Pluripotent Stem Cells.
Stem cell reviews and reportsVowel space change as a predictor of speech intelligibility gain in Down syndrome.
Clinical linguistics & phoneticsSynaptic and intrinsic membrane defects disrupt early neural network dynamics in Down syndrome.
Nature communicationsThe impact of congenital heart disease on the timing of Alzheimer's disease in Down syndrome.
Alzheimer's & dementia (Amsterdam, Netherlands)Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population.
American journal of medical genetics. Part AOrthodontic Appliance-Related Mucosal Ulcerations in Newborns and Infants With Craniofacial Disorders.
Clinical and experimental dental researchMoyamoya syndrome and persistent trigeminal artery: description of a case with Trisomy 21.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologySingle-beat method echocardiographic comparison of ventricular-arterial coupling in adults with and without Down syndrome.
American journal of physiology. Heart and circulatory physiologyInfluence of posture during mastication on body composition and nutritional intake in individuals with Down syndrome.
PeerJUnravelling myelofibrosis in infants: A hidden pediatric challenge!
Indian journal of pathology & microbiologyDyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.
Journal of pediatric endocrinology & metabolism : JPEMBrain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationIncidence, patterns of clinical presentation, and haematological characteristics of paediatric acute myeloid leukaemia in Uganda: a retrospective analysis.
BMC cancerSingle-cell atlas of the developing Down syndrome brain cortex.
Nature medicineClinical Factors Associated with Postnatal Urinary Titin N-Fragment in Neonates.
Clinical laboratoryAutism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.
Review journal of autism and developmental disordersCaregiver-Reported Attainment of Developmental Skills in Down Syndrome.
PediatricsAltered hepatic metabolism in Down syndrome.
Cell reportsUnderstanding of trisomy 21 prenatal screening among pregnant women in France: A cross-sectional study in light of 2019 guidelines.
Journal of gynecology obstetrics and human reproductionADHEAR in infants with Down syndrome and minimal hearing loss.
International journal of pediatric otorhinolaryngologyIs trisomy 21 a risk factor for postoperative complications after pediatric surgery for neonatal gastrointestinal disease? A retrospective study using a National Clinical Database in Japan.
Pediatric surgery international[Dysfunction and premature aging of hematopoietic stem cells in Down syndrome].
[Rinsho ketsueki] The Japanese journal of clinical hematologyWhat Motivates Parents of Young Children With Down Syndrome to Participate in Research: A Focus Group Analysis.
Journal of applied research in intellectual disabilities : JARIDIdentification of RALY as a novel regulator of DSCR1 transcription.
Biochemical and biophysical research communicationsConcordance of Biological and Clinical Staging of Alzheimer Disease Pathology in Down Syndrome.
JAMA neurologyRelationship of cholinergic basal forebrain atrophy with the time course of Alzheimer's disease pathology and cognitive decline in adults with Down syndrome: a longitudinal cohort study.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationChronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.
Brain research bulletinA Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub-Quantal Exocytosis in Living Neurons and Organoids.
Angewandte Chemie (International ed. in English)Adapted Judo as a Multidimensional Intervention: Effects on Physical Fitness and Psychosocial Well-Being in Adolescents with Down Syndrome.
Healthcare (Basel, Switzerland)A Critical Assessment of Antenatal Monitoring for Fetal Well-Being in Down Syndrome Pregnancies.
Diagnostics (Basel, Switzerland)Shape and Morphology of the Sella Turcica in Patients with Trisomy 21-A Systematic Review.
Diagnostics (Basel, Switzerland)THE EFFICACY OF SENSORY-ADAPTED DENTAL INTERVENTIONS FOR CHILDREN WITH DEVELOPMENTAL DISABILITIES AND SENSORY SENSITIVITIES.
Georgian medical newsArtificial intelligence application in the prediction of spontaneous preterm birth by cervical length in the first trimester of pregnancy: Comparison of three measurement methods.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsA Review of Clinical Trials in Down Syndrome.
International review of research in developmental disabilitiesEpidemiology of congenital heart defects in live births: findings from a study in Southern Brazil.
BMC cardiovascular disordersNovel insights into Alzheimer's disease through the study of individuals with Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's AssociationExplaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.
Developmental scienceMothers' and Fathers' Recode Use With Young Children With Down Syndrome.
American journal of speech-language pathologyReview of early development in children with Down syndrome: family and clinician partnership.
BMJ paediatrics openA minimally invasive dried blood spot biomarker test for the detection of Alzheimer's disease pathology.
Nature medicineElevated mortality and upregulated SARS-CoV-2-associated pathways in innate and adaptive immune cells from individuals with Down syndrome.
PloS oneUnderstanding Keratoconus in Down Syndrome: From Etiology to Management - A Narrative Review.
Clinical ophthalmology (Auckland, N.Z.)Lingual Tonsillectomy for Resistant Obstructive Sleep Apnea in Children with Down Syndrome: A Systematic Review and Meta-Analysis.
The Annals of otology, rhinology, and laryngologyRisk factors associated with hearing loss in neonates: A retrospective cross-sectional study from Qatar.
Qatar medical journalAssociation between trisomy 21 and 'puff of smoke' with an unusual presentation of transient ischaemic attack.
BMJ case reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Down.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Down
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The quality of life of parents of children with disabilities in Saudi Arabia: a systematic review.
- The evolving landscape of CAR T cell therapy in children and young adults with B cell acute lymphoblastic leukemia.
- Sucking Patterns in Infants with Down Syndrome admitted to a Level 4 Neonatal Intensive Care Unit.
- Increased dendritic inhibition of dentate gyrus granule cells in a mouse model of Down syndrome.
- Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B.
- DYRK1A and Parkinson's disease, facts and hypotheses.
- Questions Matter: Investigating the Role of Caregiver Interactions in Children With Down Syndrome.
- Association of Childhood Acute Leukemia With Autoimmune Diseases.
- Community-acquired pneumonia mimicking tuberculosis in a patient with Down syndrome treated with adjunctive injectable corticosteroids.
- Delayed diagnosis of congenital duodenal obstruction in early adolescence in a patient with Down syndrome and autism spectrum disorder.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:870(Orphanet)
- OMIM OMIM:190685(OMIM)
- MONDO:0008608(MONDO)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q47715(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
