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 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. 
  • APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease. 
  • 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. 
  • Acute leukemia in a patient with Down's syndrome and transient congenital leukemia. 
  • Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases. 
  • Argyrophilic plaque-like deposits in children. 
  • Blood biomarkers of methylation in Down syndrome and metabolic simulations using a mathematical model. 
  • Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation. 
  • Cell-free DNA analysis for noninvasive examination of trisomy. 
  • 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 comparison of Alzheimer's disease in pedigrees with the codon 717 Val-->Ile mutation in the amyloid precursor protein gene. 
  • Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome. 
  • 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. 
  • Clinical trials in children with Down syndrome: issues from a cognitive research perspective. 
  • Combined serum and ultrasound screening for detection of fetal aneuploidy. 
  • 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. 
  • Current perspectives on Down syndrome: selected medical and social issues. 
  • Detecting celiac disease in patients 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 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. 
  • Frequency of celiac disease in individuals with Down syndrome in the United States. 
  • Gene encoding the beta subunit of S100 protein is on chromosome 21: implications for Down syndrome. 
  • Genetic susceptibility to Alzheimer disease. 
  • 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. 
  • High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. 
  • Hypothyroidism in Down syndrome: screening guidelines and testing methodology. 
  • Improvements in physical fitness in adults with Down syndrome. 
  • Increased expression of NR2A subunit does not alter NMDA-evoked responses in cultured fetal trisomy 16 mouse hippocampal neurons. 
  • Index of suspicion. 
  • Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample. 
  • Intensive treatment of dysarthria in two adults with Down syndrome. 
  • Inter-laboratory comparison of DNA preservation in archival paraffin-embedded human brain tissue from participating centres on four continents. 
  • Intermediate interstitial deletion of chromosome 7q detected by first-trimester Down's syndrome screening. 
  • 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. 
  • Lack of circulating megakaryoblasts in newborn peripheral blood: development and validation of a sensitive flow cytometric detection method. 
  • Language comprehension in boys with fragile X syndrome and boys with Down syndrome. 
  • Lineage-specific trisomy 21 in a neonate with resolving transient myeloproliferative syndrome. 
  • Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21. 
  • Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. 
  • 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. 
  • Necrotizing Tenon's capsule infection in a lymphopenic Down syndrome patient following strabismus surgery. 
  • 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. 
  • Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications. 
  • Pelvic CT morphometry in Down syndrome: implications for prenatal US evaluation--preliminary results. 
  • 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. 
  • Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news. 
  • Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series. 
  • 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. 
  • Relation of age and apolipoprotein E to cognitive function in Down syndrome adults. 
  • Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin. 
  • 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. 
  • Social stimulation and joint attention in young autistic children. 
  • Stroke after adenotonsillectomy in patients with undiagnosed moyamoya syndrome. 
  • Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio. 
  • 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 gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome. 
  • 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. 
  • Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond. 
  • Transient myeloproliferative disease: keeping a high index of suspicion. 
  • Transient myeloproliferative disorder in a newborn with Down syndrome. 
  • Use of remifentanil in infants. 
  • Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.