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https://www.readbyqxmd.com/read/28103494/factors-associated-with-meeting-physical-activity-guidelines-by-adults-with-intellectual-and-developmental-disabilities
#1
Roger J Stancliffe, Lynda L Anderson
BACKGROUND: Many individuals with intellectual and developmental disabilities (IDD) have sedentary lifestyles. AIMS: (a) compare adults with IDD with the general adult population on adherence to U.S. physical activity (PA) guidelines, and (b) determine what factors predict adherence to PA guidelines by adults with IDD. METHODS: We compared adults with IDD from the 2011-2012 National Core Indicators Adult Consumer Survey (NCI-ACS) with the general U...
January 16, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28034975/pain-and-cognitive-functioning-in-adults-with-down-syndrome
#2
Nanda C de Knegt, Frank Lobbezoo, Carlo Schuengel, Heleen M Evenhuis, Erik J A Scherder
OBJECTIVE:  The aim of the present study was to examine whether cognitive functioning (i.e., memory and executive functioning) is related to self-reported presence of pain (i.e., affirmative answer to the question whether the individual feels pain) and experience of pain (i.e., intensity and affect) in adults with Down syndrome (DS). DESIGN, SETTING, AND SUBJECTS:  Cross-sectional study of 224 adults with DS (mean age = 38.1 years, mild-severe intellectual disabilities) in the Netherlands...
December 29, 2016: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28018980/the-londowns-adult-cognitive-assessment-to-study-cognitive-abilities-and-decline-in-down-syndrome
#3
Carla M Startin, Sarah Hamburg, Rosalyn Hithersay, Amy Davies, Erin Rodger, Nidhi Aggarwal, Tamara Al-Janabi, André Strydom
BACKGROUND: Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with an ultra-high risk of developing Alzheimer's disease. However, there is individual variability in the onset of clinical dementia and in baseline cognitive abilities prior to decline, particularly in memory, executive functioning, and motor coordination. The LonDownS Consortium aims to determine risk and protective factors for the development of dementia and factors relating to cognitive abilities in people with DS...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/28009725/cognitive-decline-and-dementia-in-down-syndrome
#4
Rosalyn Hithersay, Sarah Hamburg, Bernice Knight, André Strydom
PURPOSE OF REVIEW: Alzheimer's disease is most likely universal in older individuals with Down syndrome, due to having three copies of the amyloid precursor protein gene, resulting in amyloid-beta plaque deposition. Down syndrome is an important population in which to consider clinical trials of treatments to prevent or delay the development of dementia. However, assessment of subtler cognitive changes is challenging due to the presence of intellectual disability. RECENT FINDINGS: Recent research confirmed that older adults with Down syndrome often present with cognitive decline: more than 80% may experience dementia by age 65 years...
December 21, 2016: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/27991738/down-syndrome-in-diverse-populations
#5
Paul Kruszka, Antonio R Porras, Andrew K Sobering, Felicia A Ikolo, Samantha La Qua, Vorasuk Shotelersuk, Brian H Y Chung, Gary T K Mok, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Daniel Akinsanya Joseph, Desmond Ikebudu, Christopher Emeka Ugwu, Christy A N Okoromah, Yonit A Addissie, Katherine L Pardo, J Joseph Brough, Ni-Chung Lee, Katta M Girisha, Siddaramappa Jagdish Patil, Ivy S L Ng, Breana Cham Wen Min, Saumya S Jamuar, Shailja Tibrewal, Batriti Wallang, Suma Ganesh, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, L B Lahiru Prabodha, Antonio Richieri-Costa, Premala Muthukumarasamy, Meow-Keong Thong, Kelly L Jones, Omar A Abdul-Rahman, Ekanem Nsikak Ekure, Adebowale A Adeyemo, Marshall Summar, Marius George Linguraru, Maximilian Muenke
Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27983553/down-syndrome-partial-trisomy-21-and-absence-of-alzheimer-s-disease-the-role-of-app
#6
Eric Doran, David Keator, Elizabeth Head, Michael J Phelan, Ron Kim, Minodora Totoiu, Jorge R Barrio, Gary W Small, Steven G Potkin, Ira T Lott
Overexpression of the amyloid precursor protein (APP) gene on chromosome 21 in Down syndrome (DS) has been linked to increased brain amyloid levels and early-onset Alzheimer's disease (AD). An elderly man with phenotypic DS and partial trisomy of chromosome 21 (PT21) lacked triplication of APP affording an opportunity to study the role of this gene in the pathogenesis of dementia. Multidisciplinary studies between ages 66-72 years comprised neuropsychological testing, independent neurological exams, amyloid PET imaging with 11C-Pittsburgh compound-B (PiB), plasma amyloid-β (Aβ) measurements, and a brain autopsy examination...
December 9, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27980111/dna-pkcs-atm-and-atr-interplay-maintains-genome-integrity-during-neurogenesis
#7
Vanessa Enriquez-Rios, Lavinia C Dumitrache, Susanna M Downing, Yang Li, Eric J Brown, Helen R Russell, Peter J McKinnon
: The DNA damage response (DDR) orchestrates a network of cellular processes that integrates cell-cycle control and DNA repair or apoptosis, which serves to maintain genome stability. DNA-PKcs (the catalytic subunit of the DNA-dependent kinase, encoded by PRKDC), ATM (ataxia telangiectasia, mutated) and ATR (ATM and Rad3 related) are related PI3K-like protein kinases and central regulators of the DDR. Defects in these kinases have been linked to neurodegenerative or neurodevelopmental syndromes...
December 15, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27979875/predictors-of-death-in-contemporary-adult-patients-with-eisenmenger-syndrome-a-multicentre-study
#8
Aleksander Kempny, Cristel S Hjortshøj, Hong Gu, Wei Li, Alexander R Opotowsky, Michael Landzberg, Annette S Jensen, Lars Søndergaard, Mette-Elise Estensen, Ulf Thilén, Werner Budts, Barbara J Mulder, Ilja M Blok, Lidia Tomkiewicz-Pajak, Kamil Szostek, Michele D'Alto, Giancarlo Scognamiglio, Katja Prokšelj, Gerhard-Paul Diller, Konstantinos Dimopoulos, Stephen J Wort, Michael A Gatzoulis
BACKGROUND: -Eisenmenger syndrome (ES) is associated with substantial morbidity and mortality. There is no consensus, however, on mortality risk stratification. We aimed to investigate survival and predictors of death in a large, contemporary cohort of ES patients. METHODS: -We identified in a multicentre approach adults with ES under follow-up between 2000 and 2015. We examined survival and its association with clinical, electrocardiographic, echocardiographic and laboratory parameters...
December 15, 2016: Circulation
https://www.readbyqxmd.com/read/27922891/coexistence-of-adult-onset-eruptive-syringoma-and-bilateral-renal-cell-carcinoma-a-case-report
#9
Pinar Incel Uysal, Basak Yalcin, Esra Ozhamam, Onder Bozdogan
Eruptive syringoma is an unusual variant of syringoma, which usually presents before or during puberty. It typically occurs in large numbers as multiple yellow-brown-colored papules, which may show spontaneous regression. Because some authors have proposed that it could present as a reactive process of eccrine ducts to an inflammatory reaction caused by an unknown trigger, the exact pathomechanism is still unclear. There are also reports in the literature on the association of eruptive syringoma in Down syndrome, diabetes, milium, sarcoidosis, and psychiatric disorders...
January 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27914526/jiawei-erzhiwan-improves-menopausal-metabolic-syndrome-by-enhancing-insulin-secretion-in-pancreatic-%C3%AE-cells
#10
Xiao-Meng Wan, Mu Zhang, Pei Zhang, Zhi-Shen Xie, Feng-Guo Xu, Ping Zhou, Shi-Ping Ma, Xiao-Jun Xu
Menopausal metabolic syndrome (MMS) is a series of syndrome caused by ovarian function decline and hormone insufficiency, and is a high risk factor for cardiovascular diseases (CVD) and type II diabetes mellitus (T2DM). Erzhiwan (EZW), composed of Herba Ecliptae and Fructus Ligustri Lucidi, is a traditional Chinese herbal formula that has been used to treat menopausal syndrome for many years. We added Herba Epimedii, Radix Rehmanniae, and Fructus Corni into EZW, to prepare a new formula, termed Jiawei Erzhiwan (JE)...
November 2016: Chinese Journal of Natural Medicines
https://www.readbyqxmd.com/read/27896273/relationships-between-muscle-architecture-of-rectus-femoris-and-functional-parameters-of-knee-motion-in-adults-with-down-syndrome
#11
Maria Stella Valle, Antonino Casabona, Marco Micale, Matteo Cioni
This study was designed to measure in vivo muscle architecture of the rectus femoris in adults with Down syndrome, testing possible relationships with functional parameters of the knee motion. Ten adults with Down syndrome and ten typically developed participated in the study. Pennation angle and thickness of the rectus femoris and subcutaneous layer of the thigh were measured via ultrasound imaging. Knee kinematics and electromyographic activity of the rectus femoris were recorded during free leg dropping...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27890709/role-of-major-and-brain-specific-sgce-isoforms-in-the-pathogenesis-of-myoclonus-dystonia-syndrome
#12
Jianfeng Xiao, Satya R Vemula, Yi Xue, Mohammad M Khan, Francesca A Carlisle, Adrian J Waite, Derek J Blake, Ioannis Dragatsis, Yu Zhao, Mark S LeDoux
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover, deficiency of the "brain-specific" isoform and other isoforms derived from exon 11b may be central to the pathogenesis of DYT11...
February 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/27862519/accuracy-of-the-prediction-equation-for-the-determination-of-maximum-heart-rate-in-adults-with-down-syndrome
#13
P-H Boer
BACKGROUND: The purpose of the study was to determine if the regression formula developed for the prediction of maximum heart rate (HR) is valid for adults with Down syndrome (DS). METHODS: Thirty-six adults with DS (31.7 ± 6.8 years; 20 men, 16 women) completed a maximal aerobic test. Maximum HR and VO2 peak were measured directly on a motorised treadmill with a metabolic analyser. Predicted HR was estimated with the regression equation developed for individuals with DS (Fernhall et al...
January 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27858714/feasibility-of-lumbar-puncture-in-the-study-of-cerebrospinal-fluid-biomarkers-for-alzheimer-s-disease-in-subjects-with-down-syndrome
#14
María Carmona-Iragui, Telma Santos, Sebastián Videla, Susana Fernández, Bessy Benejam, Laura Videla, Daniel Alcolea, Kaj Blennow, Rafael Blesa, Alberto Lleó, Juan Fortea
BACKGROUND: Alzheimer's disease (AD) is the main medical problem in older adults with Down syndrome (DS). Studies of cerebrospinal fluid (CSF) AD biomarkers are limited and the feasibility of lumbar puncture (LP) is controversial in this population. OBJECTIVE: To analyze the frequency of complications after a LP in DS. METHODS: We collected data from 80 adults with DS that underwent a LP within the Down Alzheimer Barcelona Neuroimaging Initiative...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27851899/cognitive-ability-in-down-syndrome-and-its-relationship-to-urinary-neopterin-a-marker-of-activated-cellular-immunity
#15
Panagiotis Zis, André Strydom, David Buckley, Daniel Adekitan, Patrick C McHugh
BACKGROUND: Neopterin is an unconjugated pteridine that is secreted in large quantities by activated macrophages and can be used as a clinical marker of activated cellular immunity and oxidative stress. We aimed to investigate whether urinary neopterin levels are associated with cognitive function in people with Down syndrome (DS). METHODS: Out of 32 adults with DS who originally participated in a longitudinal study, 25 were followed up at 4 years. Informants rated their adaptive behavior (ABAS) and the adults with DS attempted assessments of language skills and memory at both baseline and follow-up time points (Modified Memory Object Task, MOMT), and receptive vocabulary (British Picture Vocabulary Scale, BPVS)...
January 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27844057/combined-treatment-with-environmental-enrichment-and-epigallocatechin-3-gallate-ameliorates-learning-deficits-and-hippocampal-alterations-in-a-mouse-model-of-down-syndrome
#16
Silvina Catuara-Solarz, Jose Espinosa-Carrasco, Ionas Erb, Klaus Langohr, Juan Ramon Gonzalez, Cedric Notredame, Mara Dierssen
Intellectual disability in Down syndrome (DS) is accompanied by altered neuro-architecture, deficient synaptic plasticity, and excitation-inhibition imbalance in critical brain regions for learning and memory. Recently, we have demonstrated beneficial effects of a combined treatment with green tea extract containing (-)-epigallocatechin-3-gallate (EGCG) and cognitive stimulation in young adult DS individuals. Although we could reproduce the cognitive-enhancing effects in mouse models, the underlying mechanisms of these beneficial effects are unknown...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27833600/mucosal-prevalence-and-interactions-with-the-epithelium-indicate-commensalism-of-sutterella-spp
#17
Kaisa Hiippala, Veera Kainulainen, Marko Kalliomäki, Perttu Arkkila, Reetta Satokari
Sutterella species have been frequently associated with human diseases, such as autism, Down syndrome, and inflammatory bowel disease (IBD), but the impact of these bacteria on health still remains unclear. Especially the interactions of Sutterella spp. with the host are largely unknown, despite of the species being highly prevalent. In this study, we addressed the interaction of three known species of Sutterella with the intestinal epithelium and examined their adhesion properties, the effect on intestinal barrier function and the pro-inflammatory capacity in vitro...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27823134/best-practice-in-caring-for-adults-with-dementia-and-learning-disabilities
#18
André Strydom, Tamara Al-Janabi, Marie Houston, James Ridley
People with learning disabilities, particularly Down's syndrome, are at increased risk of dementia. At present, services and care tailored to people with both dementia and a learning disability are unsatisfactory. This article reviews the literature specific to dementia in people with learning disabilities, including: comprehensive screening, diagnosis, management, environmental considerations, end of life care and training issues for nursing staff. Recommendations for best practice and service improvement are made to improve the quality of life for individuals with dementia and learning disabilities, pre and post-diagnosis...
October 5, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27799900/vntr-dat1-and-comtval158met-genotypes-modulate-mental-flexibility-and-adaptive-behavior-skills-in-down-syndrome
#19
Laura Del Hoyo, Laura Xicota, Klaus Langohr, Gonzalo Sánchez-Benavides, Susana de Sola, Aida Cuenca-Royo, Joan Rodriguez, Jose Rodríguez-Morató, Magí Farré, Mara Dierssen, Rafael de la Torre
Down syndrome (DS) is an aneuploidy syndrome that is caused by trisomy for human chromosome 21 resulting in a characteristic cognitive and behavioral phenotype, which includes executive functioning and adaptive behavior difficulties possibly due to prefrontal cortex (PFC) deficits. DS also present a high risk for early onset of Alzheimer Disease-like dementia. The dopamine (DA) system plays a neuromodulatory role in the activity of the PFC. Several studies have implicated trait differences in DA signaling on executive functioning based on genetic polymorphisms in the genes encoding for the catechol-O-methyltransferase (COMTVal158Met) and the dopamine transporter (VNTR-DAT1)...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27792403/descriptive-analysis-and-comparison-of-strategic-incremental-rehearsal-to-business-as-usual-sight-word-instruction-for-an-adult-nonreader-with-intellectual-disability
#20
David M Richman, Laura Grubb, Samuel Thompson
OBJECTIVE: Strategic Incremental Rehearsal (SIR) is an effective method for teaching sight-word acquisition, but has neither been evaluated for use in adults with an intellectual disability, nor directly compared to the ongoing instruction in the natural environment. METHODS: Experimental analysis of sight word acquisition via an alternating treatment design was conducted with a 23-year-old woman with Down syndrome. SIR was compared to the current reading instruction (CRI) in a classroom for young adults with intellectual disabilities...
October 28, 2016: Developmental Neurorehabilitation
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