down syndrome

Summary

Summary: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

Top Publications

  1. Kleschevnikov A, Belichenko P, Salehi A, Wu C. Discoveries in Down syndrome: moving basic science to clinical care. Prog Brain Res. 2012;197:199-221 pubmed publisher
    This review describes recent discoveries in neurobiology of Down syndrome (DS) achieved with use of mouse genetic models and provides an overview of experimental approaches aimed at development of pharmacological restoration of cognitive ..
  2. Rissman R, Mobley W. Implications for treatment: GABAA receptors in aging, Down syndrome and Alzheimer's disease. J Neurochem. 2011;117:613-22 pubmed publisher
    ..study, we discuss relevant research and reports on the GABA(A) receptor in developmental disorders, such as Down syndrome, in healthy aging, and highlight documented aberrations in the GABAergic system in AD...
  3. Kleschevnikov A, Belichenko P, Faizi M, Jacobs L, Htun K, Shamloo M, et al. Deficits in cognition and synaptic plasticity in a mouse model of Down syndrome ameliorated by GABAB receptor antagonists. J Neurosci. 2012;32:9217-27 pubmed publisher
    Cognitive impairment in Down syndrome (DS) is characterized by deficient learning and memory...
  4. Perluigi M, Pupo G, Tramutola A, Cini C, Coccia R, Barone E, et al. Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome brain. Biochim Biophys Acta. 2014;1842:1144-53 pubmed publisher
    b>Down syndrome (DS) is the most frequent genetic cause of intellectual disability characterized by the presence of three copies of chromosome 21 (Chr21)...
  5. Nikolaev S, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, et al. Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome. Blood. 2013;122:554-61 pubmed publisher
    Some neonates with Down syndrome (DS) are diagnosed with self-regressing transient myeloproliferative disorder (TMD), and 20% to 30% of those progress to acute megakaryoblastic leukemia (AMKL)...
  6. Dang V, Medina B, Das D, Moghadam S, Martin K, Lin B, et al. Formoterol, a long-acting ?2 adrenergic agonist, improves cognitive function and promotes dendritic complexity in a mouse model of Down syndrome. Biol Psychiatry. 2014;75:179-88 pubmed publisher
    b>Down syndrome is associated with significant failure in cognitive function...
  7. Fitzgerald P, Leonard H, Pikora T, Bourke J, Hammond G. Hospital admissions in children with down syndrome: experience of a population-based cohort followed from birth. PLoS ONE. 2013;8:e70401 pubmed publisher
    Children with Down syndrome, the most common genetic cause of intellectual disability, are prone to multiple and varied health-related problems...
  8. Coppede F, Bosco P, Lorenzoni V, Migheli F, Barone C, Antonucci I, et al. The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis. Mol Biol Rep. 2013;40:6913-25 pubmed publisher
    ..investigating a common MTR 2756A>G polymorphism as a maternal risk factor for the birth of a child with Down syndrome (DS) are conflicting and limited by small case-control cohorts, and its contribution to circulating hcy levels ..
  9. Chen J, Lin J, Tsai F, Meyer T. Dosage of Dyrk1a shifts cells within a p21-cyclin D1 signaling map to control the decision to enter the cell cycle. Mol Cell. 2013;52:87-100 pubmed publisher
    ..One exception is Down syndrome (DS), where a third copy of chromosome 21 mediates neurogenesis defects and lowers the frequency of solid ..

More Information

Publications85

  1. Kanaumi T, Milenkovic I, Adle Biassette H, Aronica E, Kovacs G. Non-neuronal cell responses differ between normal and Down syndrome developing brains. Int J Dev Neurosci. 2013;31:796-803 pubmed publisher
    b>Down syndrome (DS), the most common genetic cause of mental retardation, is characterized by reduced number of neurons and delayed myelination...
  2. Busciglio J, Capone G, O BRYAN J, O Byran J, Gardiner K. Down syndrome: genes, model systems, and progress towards pharmacotherapies and clinical trials for cognitive deficits. Cytogenet Genome Res. 2013;141:260-71 pubmed publisher
    b>Down syndrome (DS) is caused by an extra copy of all or part of the long arm of human chromosome 21 (HSA21)...
  3. Verweij E, Jacobsson B, van Scheltema P, de Boer M, Hoffer M, Hollemon D, et al. European non-invasive trisomy evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn. 2013;33:996-1001 pubmed publisher
    ..To evaluate the performance of a directed non-invasive prenatal testing method of cell-free DNA analysis for fetal trisomy 21 (T21) by shipping the whole blood samples from Europe to a laboratory in the USA...
  4. Granese B, Scala I, Spatuzza C, Valentino A, Coletta M, Vacca R, et al. Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome. BMC Med Genomics. 2013;6:24 pubmed publisher
    b>Down syndrome (DS) is a complex disorder caused by the trisomy of either the entire, or a critical region of chromosome 21 (21q22.1-22.3)...
  5. Zigman W. Atypical aging in Down syndrome. Dev Disabil Res Rev. 2013;18:51-67 pubmed publisher
    At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging...
  6. Yang M, Gong T, Lin X, Qi L, Guo Y, Cao Z, et al. Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis. Mutagenesis. 2013;28:661-71 pubmed publisher
    b>Down syndrome (DS) is the most common chromosomal abnormality. Many studies have assessed the association between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS offspring, but data are conflicting...
  7. O Leary P, Maxwell S, Murch A, Hendrie D. Prenatal screening for Down syndrome in Australia: costs and benefits of current and novel screening strategies. Aust N Z J Obstet Gynaecol. 2013;53:425-33 pubmed publisher
    ..To analyse the cost-effectiveness and performance of noninvasive prenatal testing (NIPT) for high-risk pregnancies following first-trimester screening compared with current practice...
  8. Bianchi D, Parker R, Wentworth J, Madankumar R, Saffer C, Das A, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370:799-808 pubmed publisher
    ..Its performance in low-risk women is unclear...
  9. Van Gameren Oosterom H, Fekkes M, Reijneveld S, Oudesluys Murphy A, Verkerk P, Van Wouwe J, et al. Practical and social skills of 16-19-year-olds with Down syndrome: independence still far away. Res Dev Disabil. 2013;34:4599-607 pubmed publisher
    Survival of children with Down syndrome (DS) has improved considerably, but insight into their level of daily functioning upon entering adulthood is lacking...
  10. Kaposy C. A disability critique of the new prenatal test for Down syndrome. Kennedy Inst Ethics J. 2013;23:299-324 pubmed
    This article presents evidence that the availability of a new noninvasive test for Down syndrome (known as "MaterniT21") could result in increased uptake of prenatal testing for Down syndrome and an increase in selective ..
  11. Boyle B, Morris J, McConkey R, Garne E, Loane M, Addor M, et al. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening. BJOG. 2014;121:809-19; discussion 820 pubmed publisher
    To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome.
  12. Jannot A, Pelet A, Henrion Caude A, Chaoui A, Masse Morel M, Arnold S, et al. Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease. PLoS ONE. 2013;8:e62519 pubmed publisher
    ..Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21...
  13. Cuckle H, Benn P, Pergament E. Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis. Prenat Diagn. 2013;33:636-42 pubmed publisher
    This study aimed to determine the principal factors contributing to the cost of avoiding a birth with Down syndrome by using cell-free DNA (cfDNA) to replace conventional screening.
  14. Jin S, Lee Y, Lim Y, Zheng Z, Lin X, Ng D, et al. Global DNA hypermethylation in down syndrome placenta. PLoS Genet. 2013;9:e1003515 pubmed publisher
    b>Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is not yet clear...
  15. Sailani M, Makrythanasis P, Valsesia A, Santoni F, Deutsch S, Popadin K, et al. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Res. 2013;23:1410-21 pubmed publisher
    Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD...
  16. Xu Y, Li W, Liu X, Ma H, Tu Z, Dai Y. Analysis of microRNA expression profile by small RNA sequencing in Down syndrome fetuses. Int J Mol Med. 2013;32:1115-25 pubmed publisher
    b>Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) and is associated with numerous deleterious phenotypes, including cognitive impairment, childhood leukemia and immune defects. Five Hsa21?derived microRNAs (i.e...
  17. Jones M, Farré P, McEwen L, Macisaac J, Watt K, Neumann S, et al. Distinct DNA methylation patterns of cognitive impairment and trisomy 21 in Down syndrome. BMC Med Genomics. 2013;6:58 pubmed publisher
    The presence of an extra whole or part of chromosome 21 in people with Down syndrome (DS) is associated with multiple neurological changes, including pathological aging that often meets the criteria for Alzheimer's Disease (AD)...
  18. Buitenkamp T, Izraeli S, Zimmermann M, Forestier E, Heerema N, van den Heuvel Eibrink M, et al. Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group. Blood. 2014;123:70-7 pubmed publisher
    Children with Down syndrome (DS) have an increased risk of B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). The prognostic factors and outcome of DS-ALL patients treated in contemporary protocols are uncertain...
  19. Malinge S, Chlon T, Dore L, Ketterling R, Tallman M, Paietta E, et al. Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes. Blood. 2013;122:e33-43 pubmed publisher
    Acute megakaryoblastic leukemia (AMKL) is more frequently observed in Down syndrome (DS) patients, in whom it is often preceded by a transient myeloproliferative disorder (TMD)...
  20. Thomazeau A, Lassalle O, Iafrati J, Souchet B, Guedj F, Janel N, et al. Prefrontal deficits in a murine model overexpressing the down syndrome candidate gene dyrk1a. J Neurosci. 2014;34:1138-47 pubmed publisher
    The gene Dyrk1a is the mammalian ortholog of Drosophila minibrain. Dyrk1a localizes in the Down syndrome (DS) critical region of chromosome 21q22.2 and is a major candidate for the behavioral and neuronal abnormalities associated with DS...
  21. Capone G, Aidikoff J, Taylor K, Rykiel N. Adolescents and young adults with Down syndrome presenting to a medical clinic with depression: co-morbid obstructive sleep apnea. Am J Med Genet A. 2013;161A:2188-96 pubmed publisher
    Adolescents and young adults with Down syndrome (DS) sometimes experience new-onset mood disorder and decline in adaptive skills. The clinical phenomenon is poorly characterized and its pathogenesis is not understood...
  22. Campbell C, Landry O, Russo N, Flores H, Jacques S, Burack J. Cognitive flexibility among individuals with Down syndrome: assessing the influence of verbal and nonverbal abilities. Am J Intellect Dev Disabil. 2013;118:193-200 pubmed publisher
    ..and performance mental age (PMA) on cognitive flexibility were examined among a group of participants with Down syndrome (DS), in order to disentangle the relative contributions of each...
  23. Engels M, Twisk J, Blankenstein M, van Vugt J. Age independent first trimester screening for Down syndrome: improvement in test performance. Prenat Diagn. 2013;33:884-8 pubmed publisher
    The aim of this study was to compare screening performance for Down syndrome of the absolute risk (AR) method to the first trimester combined test (FCT) at different maternal ages.
  24. Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato Otsubo A, et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet. 2013;45:1293-9 pubmed publisher
    ..proliferation resembling acute megakaryoblastic leukemia (AMKL), mostly affecting perinatal infants with Down syndrome. Although self-limiting in a majority of cases, TAM may evolve as non-self-limiting AMKL after spontaneous ..
  25. Iyer A, van Scheppingen J, Milenkovic I, Anink J, Adle Biassette H, Kovacs G, et al. mTOR Hyperactivation in down syndrome hippocampus appears early during development. J Neuropathol Exp Neurol. 2014;73:671-83 pubmed publisher
    ..We hypothesized that its deregulation may occur during early brain development in patients with Down syndrome (DS)...
  26. Van Gameren Oosterom H, Fekkes M, Van Wouwe J, Detmar S, Oudesluys Murphy A, Verkerk P. Problem behavior of individuals with Down syndrome in a nationwide cohort assessed in late adolescence. J Pediatr. 2013;163:1396-401 pubmed publisher
    To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability.
  27. Carducci F, Onorati P, Condoluci C, Di Gennaro G, Quarato P, Pierallini A, et al. Whole-brain voxel-based morphometry study of children and adolescents with Down syndrome. Funct Neurol. 2013;28:19-28 pubmed
    ..abnormalities in the gray matter (GM), white matter (WM) and cerebrospinal fluid (CSF) of young patients with Down syndrome (DS), high-resolution magnetic resonance imaging (MRI) voxel-based morphometry (VBM) was performed on 21 ..
  28. Dan S, Wang W, Ren J, Li Y, Hu H, Xu Z, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn. 2012;32:1225-32 pubmed publisher
    ..To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China...
  29. Cho C, Drabovich A, Batruch I, Diamandis E. Verification of a biomarker discovery approach for detection of Down syndrome in amniotic fluid via multiplex selected reaction monitoring (SRM) assay. J Proteomics. 2011;74:2052-9 pubmed publisher
    Prenatal screening test for Down syndrome (DS) can be improved by discovery of novel biomarkers...
  30. Keck Wherley J, Grover D, Bhattacharyya S, Xu X, Holman D, Lombardini E, et al. Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes. Dev Neurosci. 2011;33:451-67 pubmed publisher
    b>Down syndrome (DS; trisomy 21) is one of the most common genetic causes of intellectual disability, which is attributed to triplication of genes located on chromosome 21...
  31. Irving C, Chaudhari M. Cardiovascular abnormalities in Down's syndrome: spectrum, management and survival over 22 years. Arch Dis Child. 2012;97:326-30 pubmed publisher
    ..There has been a significant reduction in postoperative mortality and improvement in 1-year survival. Treatment modalities such as single ventricle palliation and cardiac transplantation are now considered in these patients. ..
  32. Karousou E, Stachtea X, Moretto P, Viola M, Vigetti D, D Angelo M, et al. New insights into the pathobiology of Down syndrome--hyaluronan synthase-2 overexpression is regulated by collagen VI ?2 chain. FEBS J. 2013;280:2418-30 pubmed publisher
    b>Down syndrome (DS) is a common birth defect characterized by the trisomy of chromosome 21. DS-affected umbilical cords (UCs) of fetuses show altered architecture of the extracellular matrix...
  33. Necchi D, Lomoio S, Scherini E. Dysfunction of the ubiquitin-proteasome system in the cerebellum of aging Ts65Dn mice. Exp Neurol. 2011;232:114-8 pubmed publisher
    In the cerebellum of adult-aging Ts65Dn mice, a murine model of Down syndrome, Purkinje cells undergo degeneration...
  34. Wu X, Wang X, Chan Y, Jia S, Luo Y, Tang W. Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis. Eur J Obstet Gynecol Reprod Biol. 2013;167:154-9 pubmed publisher
    MTHFR C677T and A1298C have been associated with the risk of having an infant with Down syndrome (DS), but results were conflicting...
  35. Braudeau J, Delatour B, Duchon A, Pereira P, Dauphinot L, de Chaumont F, et al. Specific targeting of the GABA-A receptor ?5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice. J Psychopharmacol. 2011;25:1030-42 pubmed publisher
    ..and excitatory neurotransmission has been proposed to contribute to altered brain function in individuals with Down syndrome (DS)...
  36. Mersy E, Smits L, van Winden L, de Die Smulders C, Paulussen A, Macville M, et al. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update. 2013;19:318-29 pubmed publisher
    ..of the literature published between 1997 and 2012 after searching PubMed, using MeSH terms 'RNA', 'DNA' and 'Down Syndrome' in combination with 'cell-free fetal (cff) RNA', 'cffDNA', 'trisomy 21' and 'noninvasive prenatal diagnosis' ..
  37. Wang S, Wang C, Qiao F, Lv J, Feng L. Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China. Arch Gynecol Obstet. 2013;288:273-7 pubmed publisher
    ..folate carrier 1 (RFC-1), cystathionine b-synthase (CBS), two key genes in folate metabolism, and the risk of Down syndrome in China...
  38. Sturgeon X, Gardiner K. Transcript catalogs of human chromosome 21 and orthologous chimpanzee and mouse regions. Mamm Genome. 2011;22:261-71 pubmed publisher
    ..of the gene content of the long arm of human chromosome 21 (Hsa21q) remains of interest for the study of Down syndrome, its associated phenotypic features, and mouse models...
  39. Liu C, Belichenko P, Zhang L, Fu D, Kleschevnikov A, Baldini A, et al. Mouse models for Down syndrome-associated developmental cognitive disabilities. Dev Neurosci. 2011;33:404-13 pubmed publisher
    b>Down syndrome (DS) is mainly caused by the presence of an extra copy of human chromosome 21 (Hsa21) and is a leading genetic cause for developmental cognitive disabilities in humans...
  40. Wald N, Bestwick J, George L, Wu T, Morris J. Screening for pre-eclampsia using serum placental growth factor and endoglin with Down's syndrome Quadruple test markers. J Med Screen. 2012;19:60-7 pubmed publisher
    ..Adding PlGF to the Quadruple test Down's syndrome screening markers improves pre-eclampsia screening performance. There is a modest extra benefit in also adding the measurement of endoglin. ..
  41. Khoshnood B, Greenlees R, Loane M, Dolk H. Paper 2: EUROCAT public health indicators for congenital anomalies in Europe. Birth Defects Res A Clin Mol Teratol. 2011;91 Suppl 1:S16-22 pubmed publisher
    ..2) congenital anomaly prenatal diagnosis prevalence, (3) congenital anomaly termination of pregnancy, (4) Down syndrome livebirth prevalence, (5) congenital anomaly pediatric surgery, and (6) neural tube defects (NTD) total ..
  42. Karlsen A, Pakkenberg B. Total numbers of neurons and glial cells in cortex and basal ganglia of aged brains with Down syndrome--a stereological study. Cereb Cortex. 2011;21:2519-24 pubmed publisher
    The total numbers of neurons and glial cells in the neocortex and basal ganglia in adults with Down syndrome (DS) were estimated with design-based stereological methods, providing quantitative data on brains affected by delayed ..
  43. Edgin J, Kumar A, Spano G, Nadel L. Neuropsychological effects of second language exposure in Down syndrome. J Intellect Disabil Res. 2011;55:351-6 pubmed publisher
    ..Past studies have not found differences on language tasks in children with Down syndrome (DS) and SLE...
  44. Monfredi O, Griffiths L, Clarke B, Mahadevan V. Efficacy and safety of bosentan for pulmonary arterial hypertension in adults with congenital heart disease. Am J Cardiol. 2011;108:1483-8 pubmed publisher
    ..Prospectively collected data from adult patients with PAH-CHD (with and without Down syndrome) initiated on bosentan from October 2007 through June 2010 were analyzed...
  45. Broers C, Gemke R, Weijerman M, Kuik D, van Hoogstraten I, van Furth A. Frequency of lower respiratory tract infections in relation to adaptive immunity in children with Down syndrome compared to their healthy siblings. Acta Paediatr. 2012;101:862-7 pubmed publisher
    Children with Down syndrome (DS) experience respiratory tract infections (RTIs) more frequently than healthy children. We investigated whether this is related to different immunological characteristics associated with DS.
  46. Norton M, Brar H, Weiss J, Karimi A, Laurent L, Caughey A, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;207:137.e1-8 pubmed publisher
    ..We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18)...
  47. Weijerman M, Brand P, van Furth M, Broers C, Gemke R. Recurrent wheeze in children with Down syndrome: is it asthma?. Acta Paediatr. 2011;100:e194-7 pubmed publisher
    To compare the prevalence of current wheeze in children with Down syndrome (DS), their siblings, and nonrelated population controls...
  48. Barr M, Shields N. Identifying the barriers and facilitators to participation in physical activity for children with Down syndrome. J Intellect Disabil Res. 2011;55:1020-33 pubmed publisher
    Many children with Down syndrome do not undertake the recommended amount of daily physical activity. The aim of this study was to explore the barriers and facilitators to physical activity for this group.
  49. Amorim M, Lima M. MTRR 66A>G polymorphism as maternal risk factor for Down syndrome: a meta-analysis. Genet Test Mol Biomarkers. 2013;17:69-73 pubmed publisher
    b>Down syndrome (DS) is the most common cause of mental retardation. Recent reports have investigated possible genetic factors that may increase maternal risk for DS...
  50. Stancliffe R, Lakin K, Larson S, Engler J, Taub S, Fortune J, et al. Demographic characteristics, health conditions, and residential service use in adults with Down syndrome in 25 U.S. states. Intellect Dev Disabil. 2012;50:92-108 pubmed publisher
    This study describes service users with Down syndrome (N = 1,199) and a comparative sample with intellectual and developmental disabilities but not Down syndrome (N = 11,182), drawn from National Core Indicator surveys of adult service ..
  51. Vis J, Duffels M, Mulder P, de Bruin Bon R, Bouma B, Berger R, et al. Prolonged beneficial effect of bosentan treatment and 4-year survival rates in adult patients with pulmonary arterial hypertension associated with congenital heart disease. Int J Cardiol. 2013;164:64-9 pubmed publisher
    ..quality of life and survival rates in 64 adult patients with PAH associated with CHD, including patients with Down syndrome (DS)...
  52. Chiviacowsky S, Wulf G, Machado C, Rydberg N. Self-controlled feedback enhances learning in adults with Down syndrome. Rev Bras Fisioter. 2012;16:191-6 pubmed
    ..One factor that has consistently been shown to enhance learning in typical participants is self-controlled practice...
  53. Povee K, Roberts L, Bourke J, Leonard H. Family functioning in families with a child with Down syndrome: a mixed methods approach. J Intellect Disabil Res. 2012;56:961-73 pubmed publisher
    This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design...
  54. Arqué G, Casanovas A, Dierssen M. Dyrk1A is dynamically expressed on subsets of motor neurons and in the neuromuscular junction: possible role in Down syndrome. PLoS ONE. 2013;8:e54285 pubmed publisher
    Individuals with Down syndrome (DS) present important motor deficits that derive from altered motor development of infants and young children...
  55. Canick J. Prenatal screening for trisomy 21: recent advances and guidelines. Clin Chem Lab Med. 2012;50:1003-8 pubmed publisher
    The performance of prenatal screening tests for the identification of trisomy 21 (Down syndrome) has markedly improved since the 1970s and early 1980s when maternal age was the sole mode of screening the general pregnant population...
  56. Bryant L, Ahmed S, Ahmed M, Jafri H, Raashid Y. 'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan. Soc Sci Med. 2011;72:1393-9 pubmed publisher
    Understanding the psychosocial impact of a congenital condition such as Down syndrome on affected individuals and their family requires an understanding of the cultural context in which they are situated...
  57. Lu J, Lian G, Zhou H, Esposito G, Steardo L, Delli Bovi L, et al. OLIG2 over-expression impairs proliferation of human Down syndrome neural progenitors. Hum Mol Genet. 2012;21:2330-40 pubmed publisher
    ..disease (AD) have generally been attributed to progressive neuronal loss in the developing and mature Down syndrome (DS) brain...
  58. McCabe L, McCabe E. Down syndrome: issues to consider in a national registry, research database and biobank. Mol Genet Metab. 2011;104:10-2 pubmed publisher
    As the quality of life for individuals with Down syndrome continues to improve due to anticipatory healthcare, early intervention, mainstreaming in schools, and increased expectations, the lack of basic information regarding individuals ..
  59. Laguna A, Barallobre M, Marchena M, Mateus C, Ramírez E, Martinez Cue C, et al. Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome. Hum Mol Genet. 2013;22:2775-84 pubmed publisher
    b>Down syndrome (DS) results from the triplication of approximately 300 human chromosome 21 (Hsa21) genes and affects almost all body organs...
  60. Raveau M, Lignon J, Nalesso V, Duchon A, Groner Y, Sharp A, et al. The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model. PLoS Genet. 2012;8:e1002724 pubmed publisher
    b>Down syndrome (DS) leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases...
  61. Rodman R, Pine H. The otolaryngologist's approach to the patient with Down syndrome. Otolaryngol Clin North Am. 2012;45:599-629, vii-viii pubmed publisher
    As more patients with Down syndrome are living into adulthood, attention has focused on health factors that affect the quality of the patient's life and their ability to reach full potential...
  62. HOLLIS N, Allen E, Oliver T, Tinker S, Druschel C, Hobbs C, et al. Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project. Am J Med Genet A. 2013;161A:438-44 pubmed publisher
    ..Using questionnaire data from the National Down Syndrome Project, a population-based case-control study, we compared the use of folic acid-containing supplements among ..
  63. Scott McKean J, Costa A. Exaggerated NMDA mediated LTD in a mouse model of Down syndrome and pharmacological rescuing by memantine. Learn Mem. 2011;18:774-8 pubmed publisher
    The Ts65Dn mouse is the best-studied animal model for Down syndrome. In the experiments described here, NMDA-mediated or mGluR-mediated LTD was induced in the CA1 region of hippocampal slices from Ts65Dn and euploid control mice by bath ..
  64. Cossec J, Lavaur J, Berman D, Rivals I, Hoischen A, Stora S, et al. Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum Mol Genet. 2012;21:3156-72 pubmed publisher
    Enlarged early endosomes have been observed in neurons and fibroblasts in Down syndrome (DS). These endosome abnormalities have been implicated in the early development of Alzheimer's disease (AD) pathology in these subjects...
  65. Sparks A, Struble C, Wang E, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206:319.e1-9 pubmed publisher
    ..We sought to develop a novel biochemical assay and algorithm for the prenatal evaluation of risk for fetal trisomy 21 (T21) and trisomy 18 (T18) using cell-free DNA obtained from maternal blood...
  66. Morris J, Alberman E, Mutton D, Jacobs P. Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. Am J Med Genet A. 2012;158A:1151-7 pubmed publisher
    This study describes the characteristics of karyotypes leading to phenotypic Down syndrome (trisomy 21) in 29,256 cases diagnosed between 1989 and 2009 in England and Wales included in the National Down Syndrome Cytogenetic Register (..
  67. Fung E, Witmans M, Ghosh M, Cave D, El Hakim H. Upper airway findings in children with Down syndrome on sleep nasopharyngoscopy: case-control study. J Otolaryngol Head Neck Surg. 2012;41:138-44 pubmed
    To identify the pattern of upper airway endoscopic findings in Down syndrome (DS) children with sleep-disordered breathing (SDB) spectrum.
  68. Kang Y, Dong X, Zhou Q, Zhang Y, Cheng Y, Hu R, et al. Identification of novel candidate maternal serum protein markers for Down syndrome by integrated proteomic and bioinformatic analysis. Prenat Diagn. 2012;32:284-92 pubmed publisher
    This study aimed to identify candidate protein biomarkers from maternal serum for Down syndrome (DS) by integrated proteomic and bioinformatics analysis.
  69. Mitra A, Blank M, Madison D. Developmentally altered inhibition in Ts65Dn, a mouse model of Down syndrome. Brain Res. 2012;1440:1-8 pubmed publisher
    ..of GABA-mediated synaptic inhibition in the CA1 region of the hippocampus in Ts65Dn mice, a model system for Down syndrome (DS)...
  70. Blank M, Fuerst P, Stevens B, Nouri N, Kirkby L, Warrier D, et al. The Down syndrome critical region regulates retinogeniculate refinement. J Neurosci. 2011;31:5764-76 pubmed publisher
    b>Down syndrome (DS) is a developmental disorder caused by a third chromosome 21 in humans (Trisomy 21), leading to neurological deficits and cognitive impairment...
  71. Morgan S, Delbarre A, Ward P. Impact of introducing a national policy for prenatal Down syndrome screening on the diagnostic invasive procedure rate in England. Ultrasound Obstet Gynecol. 2013;41:526-9 pubmed publisher
    To evaluate the impact of the introduction of a Down syndrome screening policy in England, including implementation of the first-trimester combined screening test, on reducing prenatal invasive diagnostic procedure rates.
  72. Shichiri M, Yoshida Y, Ishida N, Hagihara Y, Iwahashi H, Tamai H, et al. ?-Tocopherol suppresses lipid peroxidation and behavioral and cognitive impairments in the Ts65Dn mouse model of Down syndrome. Free Radic Biol Med. 2011;50:1801-11 pubmed publisher
    It is widely accepted that oxidative stress is involved in the pathogenesis of Down syndrome, but the effectiveness of antioxidant treatment remains inconclusive...
  73. Van Gameren Oosterom H, van Dommelen P, Schönbeck Y, Oudesluys Murphy A, Van Wouwe J, Buitendijk S. Prevalence of overweight in Dutch children with Down syndrome. Pediatrics. 2012;130:e1520-6 pubmed publisher
    ..This study aims to establish growth references for weight and to assess the prevalence rates of overweight and obesity in a nationwide sample of Dutch children with Down syndrome (DS), taking into account the influence of comorbidity.
  74. Wegiel J, Kaczmarski W, Barua M, Kuchna I, Nowicki K, Wang K, et al. Link between DYRK1A overexpression and several-fold enhancement of neurofibrillary degeneration with 3-repeat tau protein in Down syndrome. J Neuropathol Exp Neurol. 2011;70:36-50 pubmed publisher
    Triplication of chromosome 21 in Down syndrome (DS) results in overexpression of the minibrain kinase/dual-specificity tyrosine phosphorylated and regulated kinase 1A gene (DYRK1A)...
  75. Ahmed M, Sturgeon X, Ellison M, Davisson M, Gardiner K. Loss of correlations among proteins in brains of the Ts65Dn mouse model of down syndrome. J Proteome Res. 2012;11:1251-63 pubmed publisher
    The Ts65Dn mouse model of Down syndrome (DS) is trisomic for orthologs of 88 of 161 classical protein coding genes present on human chromosome 21 (HSA21)...
  76. Sperling K, Neitzel H, Scherb H. Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident. Genet Epidemiol. 2012;36:48-55 pubmed publisher
    The objective of this study is to investigate the prevalence of Down syndrome (DS) associated with Chernobyl fallout...