Down Syndrome

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  Subject Areas on Research

  • A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome. 
  • A mathematical model of glutathione metabolism. 
  • A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling. 
  • A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome. 
  • A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. 
  • A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders. 
  • Abnormal amniotic fetal antigen 2 concentrations in trisomy 18 and trisomy 21. 
  • Abnormal production of interleukin-1 by microglia from trisomy 16 mice. 
  • Abnormalities of the cervical spine in Down's syndrome: diagnosis, risks, and review of the literature, with particular reference to the Special Olympics. 
  • Accelerated epigenetic aging in newborns with Down syndrome. 
  • Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study. 
  • Altered Folate Homeostasis in Children with Down Syndrome: A Potential Basis for Enhanced Methotrexate Toxicity. 
  • Alzheimer's disease: genetic aspects and associated clinical disorders. 
  • An Ultra-miniaturized Near Infrared Spectroscopy System to Assess Sleep Apnea in Children with Down Syndrome. 
  • Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. 
  • Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists. 
  • Auditory-Perceptual Speech Features in Children With Down Syndrome. 
  • Blood biomarkers of methylation in Down syndrome and metabolic simulations using a mathematical model. 
  • Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome. 
  • Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation. 
  • Cell-free DNA analysis for noninvasive examination of trisomy. 
  • Cell-free DNA for Down syndrome screening in obese women: Is it a cost-effective strategy? 
  • Cerebral mycotic aneurysm in a child with Down's syndrome: a unique association. 
  • Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review. 
  • Children with autism fail to orient to naturally occurring social stimuli. 
  • Cholinergic therapy for Down's syndrome. 
  • Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals. 
  • Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. 
  • Clinical trials in children with Down syndrome: issues from a cognitive research perspective. 
  • Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II. 
  • Combined serum and ultrasound screening for detection of fetal aneuploidy. 
  • Commentary: Tipping the Scales: Trisomy 21 may Prevent or Promote Mortality Following Congenital Heart Surgery. 
  • Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group. 
  • Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database. 
  • Contemporary outcomes of complete atrioventricular septal defect repair: analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. 
  • Coordinated Pediatric and Periodontal Dental Care of a Child with Down syndrome. 
  • Current perspectives on Down syndrome: selected medical and social issues. 
  • Detecting celiac disease in patients with Down syndrome. 
  • Detection of iron deficiency in children with Down syndrome. 
  • Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial. 
  • Donepezil for Down's syndrome. 
  • Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial. 
  • Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17. 
  • Donepezil use in Down syndrome. 
  • Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome. 
  • Down Syndrome-Associated Arthritis Cohort in the New Childhood Arthritis and Rheumatology Research Alliance Registry: Clinical Characteristics, Treatment, and Outcomes. 
  • Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group. 
  • Dysmorphologic features of the fetal pelvis in Down syndrome: prenatal sonographic depiction and diagnostic implications of the iliac angle. 
  • Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder. 
  • Extracorporeal Membrane Oxygenation in Pediatric Trisomy 21: 30 Years of Experience from the Extracorporeal Life Support Organization Registry. 
  • Frequency of celiac disease in individuals with Down syndrome in the United States. 
  • Further understanding the connection between Alzheimer's disease and Down syndrome. 
  • Genetic susceptibility to Alzheimer disease. 
  • Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia. 
  • Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study. 
  • Health-related Quality of Life (HR-QOL) and Chronic Health Conditions in Survivors of Childhood Acute Myeloid Leukemia (AML) with Down Syndrome (DS): A Report From the Children's Oncology Group. 
  • Heritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome. 
  • Hypothyroidism in Down syndrome: screening guidelines and testing methodology. 
  • Immunotherapy in selected patients with Down syndrome disintegrative disorder. 
  • Importance of Oral Health for Adolescents and Adults With Down Syndrome. 
  • Improvements in physical fitness in adults with Down syndrome. 
  • Index of suspicion. 
  • Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample. 
  • Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. 
  • Intensive treatment of dysarthria in two adults with Down syndrome. 
  • Intramural esophageal hamartoma: a report of two cases and review of the literature. 
  • Intranasal fluticasone associated with delayed tympanostomy tube placement in children with eustachian tube dysfunction. 
  • Involvement of the HERV-derived cell-fusion inhibitor, suppressyn, in the fusion defects characteristic of the trisomy 21 placenta. 
  • Is primary total hip arthroplasty in patients with Down's syndrome associated with increased complications at 2 years follow-up? 
  • Lack of circulating megakaryoblasts in newborn peripheral blood: development and validation of a sensitive flow cytometric detection method. 
  • Lineage-specific trisomy 21 in a neonate with resolving transient myeloproliferative syndrome. 
  • Long-term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report. 
  • Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. 
  • Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations. 
  • Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. 
  • National down syndrome patient database: Insights from the development of a multi-center registry study. 
  • Neurocognitive function and joint attention ability in young children with autism spectrum disorder versus developmental delay. 
  • Neuromuscular Scoliosis: Current Concepts. 
  • Neuropsychological correlates of early symptoms of autism. 
  • New onset focal weakness in children with Down syndrome. 
  • Normal fetal pelvis: important factors for morphometric characterization with US. 
  • Outcome of transplantation for acute lymphoblastic leukemia in children with Down syndrome. 
  • Outcome of transplantation for acute myelogenous leukemia in children with Down syndrome. 
  • Participation in Social Skills Therapy is Associated With Enhanced Recall Memory by Children With Down Syndrome: An Exploratory Study. 
  • Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications. 
  • Pelvic CT morphometry in Down syndrome: implications for prenatal US evaluation--preliminary results. 
  • Perioperative care of adults with Down syndrome: a narrative review. 
  • Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date. 
  • Physical Activity Levels of Children With Down Syndrome. 
  • Physical fitness predicts functional tasks in individuals with Down syndrome. 
  • Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature. 
  • Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. 
  • Preferences for a non-invasive prenatal test as first-line screening for Down Syndrome: A discrete choice experiment. 
  • Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series. 
  • Prenatal course of isolated muscular ventricular septal defects diagnosed only by color Doppler sonography: single-institution experience. 
  • Prenatal diagnosis of Down syndrome: how best to deliver the news. 
  • Prenatal diagnosis of mosaic trisomy 13: a case report. 
  • Prevalence of iron deficiency in children with Down syndrome. 
  • Prototype formation in autism. 
  • Redox regulation of neuronal migration in a Down Syndrome model. 
  • Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin. 
  • Response to Zhang et al. 
  • Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study. 
  • Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up. 
  • Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial. 
  • Sequestration of amyloid beta-peptide. 
  • Sleep problems and recall memory in children with Down syndrome and typically developing controls. 
  • Sleep problems and temperament in young children with Down syndrome and typically developing controls. 
  • Social stimulation and joint attention in young autistic children. 
  • Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013). 
  • Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio. 
  • Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities. 
  • Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome. 
  • T cell activation deficiency associated with an aberrant pattern of protein tyrosine phosphorylation after CD3 perturbation in Down's syndrome. 
  • The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome. 
  • The anterior iliac separation: alternative index for pelvic morphometry in fetuses with Down syndrome. 
  • The association of echogenic fetal lungs with trisomy 21. 
  • The brain's immune system. 
  • The effect of progressive resistance training on leg strength, aerobic capacity and functional tasks of daily living in persons with Down syndrome. 
  • The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome. 
  • The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis. 
  • The relationship between intracellular and plasma levels of folate and metabolites in the methionine cycle: a model. 
  • Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. 
  • Transient myeloproliferative disease: keeping a high index of suspicion. 
  • Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database. 
  • Unexplained regression in Down syndrome: Management of 51 patients in an international patient database. 
  • Use of remifentanil in infants.