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Current Alzheimer Research 2016
Topics: Alzheimer Disease; Down Syndrome; History, 19th Century; History, 20th Century; Humans
PubMed: 26487155
DOI: 10.2174/1567205012999151021102914 -
Neural Plasticity 2012Down syndrome is a complex disease that has challenged molecular and cellular research for more than 50 years. Understanding the molecular bases of morphological,... (Review)
Review
Down syndrome is a complex disease that has challenged molecular and cellular research for more than 50 years. Understanding the molecular bases of morphological, cellular, and functional alterations resulting from the presence of an additional complete chromosome 21 would aid in targeting specific genes and pathways for rescuing some phenotypes. Recently, progress has been made by characterization of brain alterations in mouse models of Down syndrome. This review will highlight the main molecular and cellular findings recently described for these models, particularly with respect to their relationship to Down syndrome phenotypes.
Topics: Animals; Brain; Disease Models, Animal; Down Syndrome; Humans; Metabolic Networks and Pathways; Mice; Proteome; Transcriptome
PubMed: 22848846
DOI: 10.1155/2012/171639 -
Down's Syndrome, Research and Practice... Jul 2007Clear speech can often be challenging for people with Down syndrome. The shape of the hard palate in the top of the mouth influences speech production. A new paper...
Clear speech can often be challenging for people with Down syndrome. The shape of the hard palate in the top of the mouth influences speech production. A new paper reports detailed measures of the shape and size of the hard palate among children with Down syndrome.
Topics: Child; Cleft Lip; Cleft Palate; Down Syndrome; Humans; Language Development; Palate, Hard; Speech; Speech Intelligibility
PubMed: 17692182
DOI: 10.3104/updates.2050 -
Alzheimer's & Dementia : the Journal of... Jun 2015In the United States, estimates indicate there are between 250,000 and 400,000 individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD)...
In the United States, estimates indicate there are between 250,000 and 400,000 individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) pathology starting in their 30s. With the current lifespan being 55 to 60 years, approximately 70% will develop dementia, and if their life expectancy continues to increase, the number of individuals developing AD will concomitantly increase. Pathogenic and mechanistic links between DS and Alzheimer's prompted the Alzheimer's Association to partner with the Linda Crnic Institute for Down Syndrome and the Global Down Syndrome Foundation at a workshop of AD and DS experts to discuss similarities and differences, challenges, and future directions for this field. The workshop articulated a set of research priorities: (1) target identification and drug development, (2) clinical and pathological staging, (3) cognitive assessment and clinical trials, and (4) partnerships and collaborations with the ultimate goal to deliver effective disease-modifying treatments.
Topics: Alzheimer Disease; Animals; Clinical Trials as Topic; Congresses as Topic; Disease Models, Animal; Down Syndrome; Drug Discovery; Humans; Neuropsychological Tests
PubMed: 25510383
DOI: 10.1016/j.jalz.2014.10.007 -
Neurobiology of Aging Nov 2022This study investigates whether tau has (i) an independent effect from amyloid-β on changes in cognitive and functional performance and (ii) a synergistic relationship...
This study investigates whether tau has (i) an independent effect from amyloid-β on changes in cognitive and functional performance and (ii) a synergistic relationship with amyloid-β in the exacerbation of decline in aging Down syndrome (DS). 105 participants with DS underwent baseline PET [F]-AV1451 and PET [C]PiB scans to quantify tau deposition in Braak regions II-VI and the Striatum and amyloid-β status respectively. Linear Mixed Effects models were implemented to assess how tau and amyloid-β deposition are related to change over three time points. Tau was a significant independent predictor of cognitive and functional change. The three-way interaction between time, [C]PiB status and tau was significant in the models of episodic memory and visuospatial cognition. Baseline tau is a significant predictor of cognitive and functional decline, over and above the effect of amyloid-β status. Results suggest a synergistic relationship between amyloid-β status and tau as predictors of change in memory and visuospatial cognition.
Topics: Amyloid beta-Peptides; Brain; Cognition; Cognitive Aging; Cognitive Dysfunction; Down Syndrome; Humans; Positron-Emission Tomography; tau Proteins
PubMed: 35964542
DOI: 10.1016/j.neurobiolaging.2022.07.003 -
Italian Journal of Pediatrics Apr 2024Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. METHODS: A literature search was undertaken in the Library of Medicine, Web of Science and Excerpta Medica. The search algorithm combined various keywords: (Down syndrome OR trisomy 21 OR mongolism) AND (kidney OR urinary tract OR bladder) AND (malformation OR dysfunction OR anomaly OR abnormality OR size). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement was used.
RESULTS
Eight case-control studies were retained for the final analysis. Three studies addressed the prevalence of kidney and urogenital tract abnormalities: an increased pooled relative risk of 5.49 (95%-CI: 1.78-16.93) was observed in Down syndrome. Penile malformations, obstructive malformations (including urethral valves), dilated urinary tract system, and kidney hypodysplasia were especially common. Three reports addressed the prevalence of lower urinary tract dysfunction: an increased pooled relative risk of 2.95 (95%-CI: 1.15-7.56) was observed. Finally, an autoptic study and an ultrasound study disclosed a reduced kidney size in Down syndrome.
CONCLUSIONS
This meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome.
Topics: Humans; Down Syndrome; Kidney; Urinary Tract; Urogenital Abnormalities
PubMed: 38641829
DOI: 10.1186/s13052-024-01636-7 -
European Journal of Human Genetics :... Nov 2020
Topics: COVID-19; Child; Coronavirus Infections; Delivery of Health Care; Down Syndrome; Humans; Pandemics; Pneumonia, Viral; Risk Factors
PubMed: 32686759
DOI: 10.1038/s41431-020-0696-7 -
Dementia and Geriatric Cognitive... 2016There is a proven link between Down syndrome and the early development of the neuropathological features of Alzheimer's disease (AD). Changes in the personality and... (Review)
Review
BACKGROUND
There is a proven link between Down syndrome and the early development of the neuropathological features of Alzheimer's disease (AD). Changes in the personality and behavior of adults with Down syndrome might indicate the early stages of dementia or of frontotemporal lobar degeneration. The objective of this study was to investigate the executive functions and changes in behavior associated with frontal lobe degeneration in individuals with Down syndrome who develop AD. We conducted a systematic review selecting studies employing cognitive assessments.
SUMMARY
We identified few studies using objective measurements to determine whether cognitive aspects associated with the frontal lobe correlate with dementia in this population. We observed a tendency toward such correlations.
KEY MESSAGES
There is a need for further studies in which objective measures of cognitive and behavioral factors are evaluated together with data related to brain function and morphology.
Topics: Adult; Aged; Alzheimer Disease; Down Syndrome; Executive Function; Female; Frontal Lobe; Humans; Male; Middle Aged; Neuropsychological Tests
PubMed: 26891227
DOI: 10.1159/000442941 -
Biochimica Et Biophysica Acta May 2012Individuals with Down syndrome (DS) have high levels of oxidative stress throughout the lifespan. Mouse models of DS share some structural and functional abnormalities... (Review)
Review
Individuals with Down syndrome (DS) have high levels of oxidative stress throughout the lifespan. Mouse models of DS share some structural and functional abnormalities that parallel findings seen in the human phenotype. Several of the mouse models show evidence of cellular oxidative stress and have provided a platform for antioxidant intervention. Genes that are overexpressed on chromosome 21 are associated with oxidative stress and neuronal apoptosis. The lack of balance in the metabolism of free radicals generated during processes related to oxidative stress may have a direct role in producing the neuropathology of DS including the tendency to Alzheimer disease (AD). Mitochondria are often a target for oxidative stress and are considered to be a trigger for the onset of the AD process in DS. Biomarkers for oxidative stress have been described in DS and in AD in the general population. However, intervention trials using standard antioxidant supplements or diets have failed to produce uniform therapeutic effect. This chapter will examine the biological role of oxidative stress in DS and its relationship to abnormalities in both development and aging within the disorder. This article is part of a Special Issue entitled: Antioxidants and Antioxidant Treatment in Disease.
Topics: Animals; Antioxidants; Disease Models, Animal; Dogs; Down Syndrome; Mice; Mitochondria; Oxidative Stress
PubMed: 22206998
DOI: 10.1016/j.bbadis.2011.12.010 -
Journal of the Royal Society of Medicine May 1994
Review
Topics: Adolescent; Adult; Aging; Child; Child Behavior Disorders; Disabled Persons; Down Syndrome; Female; Humans; Intelligence; Learning Disabilities; Life Expectancy; Male
PubMed: 8207724
DOI: 10.1177/014107689408700513