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down syndrome

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21 papers 0 to 25 followers
Donna M Wilcock, Frederick A Schmitt, Elizabeth Head
Down syndrome (DS) is a common cause of intellectual disability and is also associated with early age of onset of Alzheimer's disease (AD). Due to an extra copy of chromosome 21, most adults over 40years old with DS have beta-amyloid plaques as a result of overexpression of the amyloid precursor protein. Cerebrovascular pathology may also be a significant contributor to neuropathology observed in the brains of adults with DS. This review describes the features of cardiovascular dysfunction and cerebrovascular pathology in DS that may be modifiable risk factors and thus targets for interventions...
May 2016: Biochimica et Biophysica Acta
Maryam Malmir, Maryam Seifenaraghi, Dariush D Farhud, G Ali Afrooz, Mohammad Khanahmadi
BACKGROUND: According to the mother's key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother's happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome...
May 2015: Iranian Journal of Public Health
Xiao Fang, Han Lin, Xiaohui Wang, Qiuhong Zuo, Jun Qin, Pumin Zhang
Defective DNA damage response is a threat to genome stability and a proven cause of tumorigenesis. C21ORF2 (chromosome 21 open reading frame 2) is a novel gene on chromosome 21, and the C21ORF2 protein is found to interact with NEK1. Earlier studies showed that C21ORF2 might be associated with some human genetic diseases including Down syndrome. However, the cellular functions of C21ORF2 remain unknown. In the present study, we reported that C21ORF2 affected cell proliferation after DNA damage induced by ionizing radiation, and DNA repair was less efficient in C21ORF2-depleted cells compared with control cells...
October 2015: Acta Biochimica et Biophysica Sinica
R Izquierdo-Gomez, D Martínez-Gómez, B Fernhall, A Sanz, Ó L Veiga
BACKGROUND/OBJECTIVES: Adolescents with Down syndrome (DS) exhibit higher levels of fatness and low levels of physical fitness compared with those without DS. In adolescents without DS, fatness is tightly associated with physical fitness, but this association is unclear in adolescents with DS. The aim of this study was to examine the association between several markers of fatness and physical fitness in a relative large sample of adolescents with and without DS. SUBJECTS/METHODS: A total of 111 adolescents with DS (41 females) aged 11-20 years participated in this cross-sectional study...
January 2016: International Journal of Obesity: Journal of the International Association for the Study of Obesity
Erik Iwarsson, Ulrik Kvist, Maj A Hultén
BACKGROUND: Trisomy 21 Down syndrome is the most common genetic cause for congenital malformations and intellectual disability. It is well known that in the outstanding majority of cases the extra chromosome 21 originates from the mother but only in less than 10 % from the father. The mechanism underlying this striking difference in parental origin of Trisomy 21 Down syndrome is still unknown. However, it seems likely that the main reason is a much higher stringency in the elimination of any trisomy 21 cells during fetal testicular than ovarian development...
2015: Molecular Cytogenetics
Jillian L Shaw, Shixing Zhang, Karen T Chang
UNLABELLED: Aging individuals with Down syndrome (DS) have an increased risk of developing Alzheimer's disease (AD), a neurodegenerative disorder characterized by impaired memory. Memory problems in both DS and AD individuals usually develop slowly and progressively get worse with age, but the cause of this age-dependent memory impairment is not well understood. This study examines the functional interactions between Down syndrome critical region 1 (DSCR1) and amyloid-precursor protein (APP), proteins upregulated in both DS and AD, in regulating memory...
August 12, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Nicole Schupf, Annie Lee, Naeun Park, Lam-Ha Dang, Deborah Pang, Alexander Yale, David Kyung-Taek Oh, Sharon J Krinsky-McHale, Edmund C Jenkins, José A Luchsinger, Warren B Zigman, Wayne Silverman, Benjamin Tycko, Sergey Kisselev, Lorraine Clark, Joseph H Lee
We examined the contribution of candidates genes for Alzheimer's disease (AD) to individual differences in levels of beta amyloid peptides in adults with Down syndrom, a population at high risk for AD. Participants were 254 non-demented adults with Down syndrome, 30-78 years of age. Genomic deoxyribonucleic acid was genotyped using an Illumina GoldenGate custom array. We used linear regression to examine differences in levels of Aβ peptides associated with the number of risk alleles, adjusting for age, sex, level of intellectual disability, race and/or ethnicity, and the presence of the APOE ε4 allele...
October 2015: Neurobiology of Aging
Ambreen Asim, Ashok Kumar, Srinivasan Muthuswamy, Shalu Jain, Sarita Agarwal
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease. The genes or miRNA involved in Down syndrome associated Alzheimer's disease, congenital heart defects (AVSD), leukemia including AMKL and ALL, hypertension and Hirschprung disease are discussed in this article...
June 11, 2015: Journal of Biomedical Science
Bin Yu, Bin Zhang, Wen-Bo Zhou, Qiu-Wei Wang, Pei Yuan, Yu-Qi Yang, Jing Kong
It is well known that Down syndrome (DS) is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. Intellectual disability is the foremost and most debilitating trait, which caused loss of cognitive abilities and the development of early onset Alzheimer's disease (AD). Ts65Dn mice were used in this study. We isolated the hippocampus. First, we used transmission scanning electron microscopy to directly observe the hippocampus and confirm if apoptosis had occurred...
2015: BioMed Research International
Janet Robertson, Chris Hatton, Eric Emerson, Susannah Baines
PURPOSE: Epilepsy is more common in people with intellectual disabilities than in the general population. However, reported prevalence rates vary widely between studies. This systematic review aimed to provide a summary of prevalence studies and estimates of prevalence based on meta-analyses. METHOD: Studies were identified via electronic searches using Medline, Cinahl and PsycINFO and cross-citations. Information extracted from studies was tabulated. Prevalence rate estimates were pooled using random effects meta-analyses and subgroup analyses were conducted...
July 2015: Seizure: the Journal of the British Epilepsy Association
Patrick J Lao, Tobey J Betthauser, Ansel T Hillmer, Julie C Price, William E Klunk, Iulia Mihaila, Andrew T Higgins, Peter D Bulova, Sigan L Hartley, Regina Hardison, Rameshwari V Tumuluru, Dhanabalan Murali, Chester A Mathis, Annie D Cohen, Todd E Barnhart, Darlynne A Devenny, Marsha R Mailick, Sterling C Johnson, Benjamin L Handen, Bradley T Christian
INTRODUCTION: In Down syndrome (DS), the overproduction of amyloid precursor protein is hypothesized to predispose young adults to early expression of Alzheimer-like neuropathology. METHODS: PET imaging with carbon 11-labeled Pittsburgh compound B examined the pattern of amyloid-β deposition in 68 nondemented adults with DS (30-53 years) to determine the relationship between deposition and normal aging. Standard uptake value ratio (SUVR) images were created with cerebellar gray matter as the reference region...
April 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
Tahyna Duda Deps, Gabriela Lopes Angelo, Carolina Castro Martins, Saul Martins Paiva, Isabela Almeida Pordeus, Ana Cristina Borges-Oliveira
Scientific evidence of susceptibility to dental caries in the population with Down Syndrome (DS) is limited and conflicting, making it difficult to establish firm conclusions. The aim of this systematic review and meta-analysis was to obtain scientific evidence of the possible association between dental caries and individuals with DS, compared to individuals without DS (control). An electronic search of five databases was performed, with no language or publication date restrictions. The studies were selected by two independent reviewers (Kappa = 0...
2015: PloS One
Nancy Raitano Lee, Elizabeth I Adeyemi, Amy Lin, Liv S Clasen, François M Lalonde, Ellen Condon, David I Driver, Philip Shaw, Nitin Gogtay, Armin Raznahan, Jay N Giedd
Detailed descriptions of cortical anatomy in youth with Down syndrome (DS), the most common genetic cause of intellectual disability (ID), are scant. Thus, the current study examined deviations in cortical thickness (CT) and surface area (SA), at high spatial resolution, in youth with DS, to identify focal differences relative to typically developing (TD) youth. Participants included 31 youth with DS and 45 age- and sex-matched TD controls (mean age ∼16 years; range = 5-24 years). All participants completed T1-weighted ASSET-calibrated magnetization prepared rapid gradient echo scans on a 3-T magnetic resonance imaging scanner...
July 2016: Cerebral Cortex
Susana de Sola, Rafael de la Torre, Gonzalo Sánchez-Benavides, Bessy Benejam, Aida Cuenca-Royo, Laura Del Hoyo, Joan Rodríguez, Silvina Catuara-Solarz, Judit Sanchez-Gutierrez, Ivan Dueñas-Espin, Gimena Hernandez, Jordi Peña-Casanova, Klaus Langohr, Sebastia Videla, Henry Blehaut, Magi Farre, Mara Dierssen
The recent prospect of pharmaceutical interventions for cognitive impairment of Down syndrome (DS) has boosted a number of clinical trials in this population. However, running the trials has raised some methodological challenges and questioned the prevailing methodology used to evaluate cognitive functioning of DS individuals. This is usually achieved by comparing DS individuals to matched healthy controls of the same mental age. We propose a new tool, the TESDAD Battery that uses comparison with age-matched typically developed adults...
2015: Frontiers in Psychology
Bin Zhang, Qiuwei Wang, Tingting Miao, Bin Yu, Pei Yuan, Jing Kong, Beiyi Lu
BACKGROUND: Down syndrome is a condition which extra genetic material causes delays in child development, both mentally and physically. Strengthening the study of the neural defects of DS is of great significance. METHODS: Ts65Dn mice were used in this study. We removed the brain and isolated their hippocampus. We customized 54 genes in one PCR arrays, included some important genes related to Alzheimer's disease. The expression of genes were detected by RT-PCR. RESULTS: PCR arrays contained 54 genes related to Alzheimer's disease...
2015: International Journal of Clinical and Experimental Pathology
H T El-Bassyouni, H H Afifi, M M Eid, R M Kamal, H H El-Gebali, Gsm El-Saeed, M M Thomas, S A Abdel-Maksoud
BACKGROUND: Oxidative stress plays a major role in the pathogenesis of leukemia-prone diseases such as Fanconi anemia (FA) and Down syndrome (DS). AIM: To explore the oxidative stress state in children with DS and FA by estimating the levels of antioxidants (e.g., malondialdehyde [MDA], total antioxidant capacity, and superoxide dismutase [SOD] activity) and DNA damage, and to evaluate of the effect of antioxidant treatment on these patients. SUBJECTS AND METHODS: The study included 32 children clinically diagnosed with (15 patients) and FA (17 patients) in addition to 17 controls matched for age and sex...
May 2015: Annals of Medical and Health Sciences Research
Donna M Wilcock, Jennifer Hurban, Alex M Helman, Tiffany L Sudduth, Katie L McCarty, Tina L Beckett, Joshua C Ferrell, M Paul Murphy, Erin L Abner, Frederick A Schmitt, Elizabeth Head
Down syndrome (DS) is the most common genetic cause of intellectual disability and is primarily caused by the triplication of chromosome 21. The overexpression of amyloid precursor protein gene may be sufficient to drive Alzheimer's disease (AD) neuropathology that is observed in virtually all individuals with DS by the age of 40 years. There is relatively little information about inflammation in the DS brain and how the genetics of DS may alter inflammatory responses and modify the course of AD pathogenesis in this disorder...
September 2015: Neurobiology of Aging
Julia L Bassell, Han Phan, Roberta Leu, Rebecca Kronk, Jeannie Visootsak
Down syndrome (DS) is the most common genetic cause of intellectual disability and results from an extra chromosome 21 (Trisomy 21). Sleep issues and/or obstructive sleep apnea (OSA) are assumed to be part of the DS phenotype with a high prevalence but are often under recognized. This cross-sectional study of children with DS examines the caregiver-reported sleep behaviors of 108 children with DS, ranging in age from 1.50 to 13.40 years (mean = 5.18 years) utilizing a standardized assessment tool, the Children's Sleep Habit Questionnaire (CSHQ)...
August 2015: American Journal of Medical Genetics. Part A
Vee P Prasher, Niyati Sachdeva, Nick Tarrant
Individuals with Down's syndrome (DS) are living longer and many will survive into their fifth or sixth decade of life. Among the DS population, the prevalence of dementia in Alzheimer's disease increases from 9.4% in age group 30-39 years to 54.5% age group 60-69 years. The psychopathology of dementia in Alzheimer's disease is similar to that seen in the general population although differences are apparent due to the underlying intellectual disability in DS and on the reliance on collateral information from informants...
2015: Neurodegenerative Disease Management
Clara Higuera, Katheleen J Gardiner, Krzysztof J Cios
Down syndrome (DS) is a chromosomal abnormality (trisomy of human chromosome 21) associated with intellectual disability and affecting approximately one in 1000 live births worldwide. The overexpression of genes encoded by the extra copy of a normal chromosome in DS is believed to be sufficient to perturb normal pathways and normal responses to stimulation, causing learning and memory deficits. In this work, we have designed a strategy based on the unsupervised clustering method, Self Organizing Maps (SOM), to identify biologically important differences in protein levels in mice exposed to context fear conditioning (CFC)...
2015: PloS One
2015-06-28 00:13:01
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