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down syndrome

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S J Loveall, F A Conners, A S Tungate, L J Hahn, T D Osso
BACKGROUND: Previous research has indicated a unique profile of executive function (EF) in children and adolescents with Down syndrome (DS). However, there is a paucity of research on EF in adults with DS. This study aimed to gain a broader understanding of strengths and weaknesses in EF in DS from 2 to 35 years. METHOD: Parents of 112 individuals with DS between 2 and 35 years participated in this study. Parents either completed the Behaviour Rating Inventory of Executive Function - for individuals 6+ years - or the Behaviour Rating Inventory of Executive Function Preschool Version - for children 2-5 years...
September 2017: Journal of Intellectual Disability Research: JIDR
Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. The objective of this review is to discuss the utility of biomarkers in DS on the basis of the pathophysiology of the disease and to provide an update on recent studies in this field...
July 2017: Neurology and Therapy
Giulio Calcagni, Marta Unolt, Maria Cristina Digilio, Anwar Baban, Paolo Versacci, Marco Tartaglia, Antonio Baldini, Bruno Marino
Advances in genetics allowed a better definition of the role of specific genetic background in the etiology of syndromic congenital heart defects (CHDs). The identification of a number of disease genes responsible for different syndromes have led to the identification of several transcriptional regulators and signaling transducers and modulators that are critical for heart morphogenesis. Understanding the genetic background of syndromic CHDs allowed a better characterization of the genetic basis of non-syndromic CHDs...
September 2017: Expert Review of Molecular Diagnostics
Melissa S Xanthopoulos, Rachel Walega, Rui Xiao, Divya Prasad, Mary M Pipan, Babette S Zemel, Robert I Berkowitz, Sheela N Magge, Andrea Kelly
OBJECTIVES: To describe caregiver-reported quality of life (QOL) in youth with Down syndrome (DS) and to examine the role of obesity on QOL. STUDY DESIGN: Caregivers of youth with and without DS aged 10 through 20 years completed questionnaires examining QOL (Pediatric Quality of Life Questionnaire) and weight-related QOL (Impact of Weight on Quality of Life - Kids). Age- and sex-specific z scores were generated for body mass index. Obesity was defined as a body mass index ≥95th percentile for age and sex...
October 2017: Journal of Pediatrics
Fiorenza Stagni, Andrea Giacomini, Marco Emili, Sandra Guidi, Renata Bartesaghi
Down syndrome (DS) is characterized by brain hypotrophy and intellectual disability starting from early life stages. Accumulating evidence shows that the phenotypic features of the DS brain can be traced back to the fetal period since the DS brain exhibits proliferation potency reduction starting from the critical time window of fetal neurogenesis. This defect is worsened by the fact that neural progenitor cells exhibit reduced acquisition of a neuronal phenotype and an increase in the acquisition of an astrocytic phenotype...
January 2018: Free Radical Biology & Medicine
Intae Choi
The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution...
2017: Environmental Health and Toxicology
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
2015-06-28 11:18:51
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