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Select item 68656601.

Differential effects of Down's syndrome and Alzheimer's neuropathology on default mode connectivity

Liam R. Wilson, Deniz Vatansever, Tiina Annus, Guy B. Williams, Young T. Hong, Tim D. Fryer, Peter J. Nestor, Anthony J. Holland, Shahid H. Zaman

Hum Brain Mapp. 2019 Oct 15; 40(15): 4551–4563. Published online 2019 Jul 26. doi: 10.1002/hbm.24720

PMCID:: PMC6865660

Abstract Article PDF–8.7M

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First trimester ultrasound tests alone or in combination with first trimester serum tests for Down's syndrome screening

S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic, Cochrane Pregnancy and Childbirth Group

Cochrane Database Syst Rev. 2017 Mar; 2017(3): CD012600. Published online 2017 Mar 15. doi: 10.1002/14651858.CD012600

PMCID:: PMC6464518

Abstract Article PDF–2.3M

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First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening

S Kate Alldred, Yemisi Takwoingi, Boliang Guo, Mary Pennant, Jonathan J Deeks, James P Neilson, Zarko Alfirevic, Cochrane Pregnancy and Childbirth Group

Cochrane Database Syst Rev. 2017 Mar; 2017(3): CD012599. Published online 2017 Mar 15. doi: 10.1002/14651858.CD012599

PMCID:: PMC6464364

Abstract Article PDF–1.9M

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The Contingent Prenatal Screening Test for Down’s Syndrome and Neural Tube Defects in West of Iran

Faranak Aghaz, Seyyedeh Zeinab Ojagh, Saber Khanjari, Asad Vaisi-Raygani, Mozafar Khazaei, Mitra Bakhtiari

J Reprod Infertil. 2019 Oct-Dec; 20(4): 244–251.

PMCID:: PMC6928407

Abstract Article PDF–216K

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The population prevalence of Down's syndrome in England and Wales in 2011

Jianhua Wu, Joan K Morris

Eur J Hum Genet. 2013 Sep; 21(9): 1016–1019. Published online 2013 Jan 16. doi: 10.1038/ejhg.2012.294

Correction in:: Eur J Hum Genet. 2013 Sep; 21(9): 1033–1034.

PMCID:: PMC3746270

Abstract Article PDF–675K

Select item 32325336.

Non congenital heart disease aspects of Down's syndrome

S Bianca

Images Paediatr Cardiol. 2002 Oct-Dec; 4(4): 3–11.

PMCID:: PMC3232533

Abstract Article

Select item 110984707.

The implementation and impact of non-invasive prenatal testing (NIPT) for Down’s syndrome into antenatal screening programmes: A systematic review and meta-analysis

Elinor Sebire, Chithramali Hasanthika Rodrigo, Sohinee Bhattacharya, Mairead Black, Rachael Wood, Rute Vieira

PLoS One. 2024; 19(5): e0298643. Published online 2024 May 16. doi: 10.1371/journal.pone.0298643

PMCID:: PMC11098470

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Assessment of Objectively Measured Physical Activity Levels in Individuals with Intellectual Disabilities with and without Down's Syndrome

Alexander C. Phillips, Anthony J. Holland

PLoS One. 2011; 6(12): e28618. Published online 2011 Dec 21. doi: 10.1371/journal.pone.0028618

PMCID:: PMC3244403

Abstract Article PDF–88K

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Adults with Down's syndrome: the prevalence of complications and health care in the community

Alex Henderson, Sally A Lynch, Steve Wilkinson, Morag Hunter

Br J Gen Pract. 2007 Jan 1; 57(534): 50–55.

PMCID:: PMC2032701

Abstract Article PDF–131K

Select item 189464810.

A population-based evaluation of the impact of antenatal screening for Down's syndrome in France, 1981-2000

Babak Khoshnood, Catherine De Vigan, Véronique Vodovar, Janine Goujard, François Goffinet

BJOG. Author manuscript; available in PMC 2007 Jun 20.

Published in final edited form as: BJOG. 2004 May; 111(5): 485–490. doi: 10.1111/j.1471-0528.2004.00117.x

PMCID:: PMC1894648

Abstract Article

Select item 2730111.

Six year survey of screening for Down's syndrome by maternal age and mid-trimester ultrasound scans

David T Howe, Robert Gornall, Diana Wellesley, Tracy Boyle, John Barber

BMJ. 2000 Mar 4; 320(7235): 606–610. doi: 10.1136/bmj.320.7235.606

PMCID:: PMC27301

Abstract Article PDF–279K

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Madeleine J. Walpert, Eduardo M. Normando, Tiina Annus, Sally R. Jennings, Liam R. Wilson, Peter Watson, Shahid H. Zaman, M. Francesca Cordeiro, Anthony J. Holland

Alzheimers Dement (Amst) 2019 Dec; 11: 744–751. Published online 2019 Nov 5. doi: 10.1016/j.dadm.2019.08.007

PMCID:: PMC6939044

Abstract Article PDF–665K

Select item 310481913.

Evaluation of a proposed mixture model to specify the distributions of nuchal translucency measurements in antenatal screening for Down's syndrome

J P Bestwick, W J Huttly, N J Wald

J Med Screen. 2010 Mar; 17(1): 13–18. doi: 10.1258/jms.2010.009108

PMCID:: PMC3104819

Abstract Article PDF–133K

Select item 383359314.

Life-long Overexpression of S100β in Down’s Syndrome: Implications for Alzheimer Pathogenesis

W. S. T. Griffin, J. G. Sheng, J. E. McKenzie, M. C. Royston, S. M. Gentleman, R. A. Brumback, L. C. Cork, M. R. Del Bigio, G. W. Roberts, R. E. Mrak

Neurobiol Aging. Author manuscript; available in PMC 2013 Nov 19.

Published in final edited form as: Neurobiol Aging. 1998 Sep-Oct; 19(5): 401–405. doi: 10.1016/s0197-4580(98)00074-8

PMCID:: PMC3833593

Abstract Article PDF–5.3M

Select item 689187715.

Dynamic sustained attention markers differentiate atypical development: The case of Williams syndrome and Down's syndrome

Nir Shalev, Ann Steele, Anna C. Nobre, Annette Karmiloff-Smith, Kim Cornish, Gaia Scerif

Neuropsychologia. 2019 Sep; 132: 107148. doi: 10.1016/j.neuropsychologia.2019.107148

PMCID:: PMC6891877

Abstract Article PDF–1.0M

Select item 685030216.

Being a dad to a child with Down’s syndrome: Overcoming the challenges to adjustment

Anna Ridding, James Williams

J Appl Res Intellect Disabil. 2019 May; 32(3): 678–690. Published online 2019 Jan 11. doi: 10.1111/jar.12563

PMCID:: PMC6850302

Abstract Article PDF–495K

Select item 310482017.

Distribution of nuchal translucency in antenatal screening for Down's syndrome

J P Bestwick, W J Huttly, N J Wald

J Med Screen. 2010 Mar; 17(1): 8–12. doi: 10.1258/jms.2010.009107

Correction in:: J Med Screen. 2010 Jun; 17(2): 106.

PMCID:: PMC3104820

Abstract Article PDF–85K

Select item 873292218.

Establishment of Down’s syndrome periodontal ligament cells by transfection with SV40T-Ag and hTERT

Takeyoshi Asakawa, Atsushi Yamada, Masumi Kugino, Tomokazu Hasegawa, Kentaro Yoshimura, Kiyohito Sasa, Mitsuhiro Kinoshita, Masakazu Nitta, Karin Nagata, Tomomi Sugiyama, Ryutaro Kamijo, Takahiro Funatsu

Hum Cell. 2022; 35(1): 379–383. Published online 2021 Sep 29. doi: 10.1007/s13577-021-00621-0

PMCID:: PMC8732922

Abstract Article PDF–2.5M

Select item 2728419.

Psychological consequences for parents of false negative results on prenatal screening for Down's syndrome: retrospective interview study

Sue Hall, Martin Bobrow, Theresa M Marteau

BMJ. 2000 Feb 12; 320(7232): 407–412.

PMCID:: PMC27284

Abstract Article PDF–246K

Select item 536765420.

A prospective clinical trial to compare the performance of dried blood spots prenatal screening for Down’s syndrome with conventional non-invasive testing technology

Huiying Hu, Yulin Jiang, Minghui Zhang, Shanying Liu, Na Hao, Jing Zhou, Juntao Liu, Xiaojin Zhang, Liangkun Ma

Exp Biol Med (Maywood) 2017 Mar; 242(5): 547–553. Published online 2017 Jan 5. doi: 10.1177/1535370216683837

PMCID:: PMC5367654

Abstract Article PDF–218K

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PMC Images search for "down's syndrome"

Figure 2Diagnostic modalities for Alzheimer's disease in Down's syndrome patients

AD: Alzheimer's disease; DS: Down's syndrome.

Tiny Toes to Tau Tangles: Down's Syndrome and Its Association With Alzheimer's Disease

Cureus. 2022 Feb;14(2):e22125.
Figure 5

Early signs of NGF dysmetabolism in primary cultures from foetal Down’s syndrome cortex. (A) Western blot analysis revealed significantly higher soluble APP-β levels (P = 0.015) in conditioned media from Down’s syndrome cultures. Down’s syndrome cultures exhibited significantly higher levels of secreted (B) amyloid-β₄₀ (P = 0.036) and (C) amyloid-β₄₂ (P = 0.047), compared with controls. The concentration of amyloid-β peptides is expressed in pg/ml. (D) Western blot analysis revealed a significant increase in proNGF levels in conditioned media from Down’s syndrome cultures (P = 0.029). (E) Reduced tPA zymogenic activity in Down’s syndrome conditioned media (P = 0.046). (F) The activity of MMP9 and MMP2 was significantly increased in Down’s syndrome conditioned media (P = 0.011 and P = 0.026, respectively). (H) Scattergram showing positive correlation between MMP9 activity and amyloid-β₄₂ (r = 0.718, P = 0.009). (I) Positive correlation between proNGF and MMP9 activity (r = 0.676, P < 0.011). (G) Western blot analysis revealed significantly higher TIMP1 levels in Down’s syndrome conditioned media (P = 0.029). (J) Positive correlation between TIMP1 and MMP9 activity (r = 0.851, P = 0.0001). For western blot and zymography analysis, IOD values were normalized by total protein concentration in each conditioned media sample. (K–M) Western blot analysis from cortical cell homogenates revealed (K) increased APP (P = 0.042) and (L) MMP9 protein levels (P = 0.030) in Down’s syndrome. (M) There was a marked reduction in tPA activity in Down’s syndrome cells, as determined by casein zymography (P = 0.017). Representative tPA zymogram and immunoblots probed with 22C11, MMP9 and β-actin antibodies are shown. Error bars represent mean ± SEM, (n = 5 for control and n = 9 for Down’s syndrome cultures). *P < 0.05; **P < 0.01; Student’s t-test, Spearman Rank analysis for correlations. Aβ = amyloid-β; DS = Down’s syndrome; IOD=Integrated optical density.

Nerve growth factor metabolic dysfunction in Down’s syndrome brains

Brain. 2014 Mar;137(3):860-872.
Figure 1

Physical appearance of Down's syndrome

Neurofibromatosis, Down's syndrome, and acquired abnormalities

Indian Dermatol Online J. 2016 May-Jun;7(3):198-200.
Figure 3

Typical Down's syndrome foot

Non congenital heart disease aspects of Down's syndrome

Images Paediatr Cardiol. 2002 Oct-Dec;4(4):3-11.