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down syndrome adults

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https://www.readbyqxmd.com/read/29130597/co-occurring-medical-conditions-in-adults-with-down-syndrome-a-systematic-review-toward-the-development-of-health-care-guidelines
#1
REVIEW
George T Capone, Brian Chicoine, Peter Bulova, Mary Stephens, Sarah Hart, Blythe Crissman, Andrea Videlefsky, Katherine Myers, Nancy Roizen, Anna Esbensen, Moya Peterson, Stephanie Santoro, Jason Woodward, Barry Martin, David Smith
Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129311/speech-disfluencies-in-children-with-down-syndrome
#2
Kurt Eggers, Sabine Van Eerdenbrugh
PURPOSE: Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both. FINDINGS: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age...
November 8, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29114946/reported-gum-disease-as-a-cardiovascular-risk-factor-in-adults-with-intellectual-disabilities
#3
K Hsieh, S Murthy, T Heller, J H Rimmer, G Yen
BACKGROUND: Several risk factors for cardiovascular disease (CVD) have been identified among adults with intellectual disabilities (ID). Periodontitis has been reported to increase the risk of developing a CVD in the general population. Given that individuals with ID have been reported to have a higher prevalence of poor oral health than the general population, the purpose of this study was to determine whether adults with ID with informant reported gum disease present greater reported CVD than those who do not have reported gum disease and whether gum disease can be considered a risk factor for CVD...
November 8, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29114051/dscam-mediated-control-of-dendritic-and-axonal-arbor-outgrowth-enforces-tiling-and-inhibits-synaptic-plasticity
#4
Aaron B Simmons, Samuel J Bloomsburg, Joshua M Sukeena, Calvin J Miller, Yohaniz Ortega-Burgos, Bart G Borghuis, Peter G Fuerst
Mature mammalian neurons have a limited ability to extend neurites and make new synaptic connections, but the mechanisms that inhibit such plasticity remain poorly understood. Here, we report that OFF-type retinal bipolar cells in mice are an exception to this rule, as they form new anatomical connections within their tiled dendritic fields well after retinal maturity. The Down syndrome cell-adhesion molecule (Dscam) confines these anatomical rearrangements within the normal tiled fields, as conditional deletion of the gene permits extension of dendrite and axon arbors beyond these borders...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29104533/cell-type-specific-mrna-dysregulation-in-hippocampal-ca1-pyramidal-neurons-of-the-fragile-x-syndrome-mouse-model
#5
Laura Ceolin, Nathalie Bouquier, Jihane Vitre-Boubaker, Stéphanie Rialle, Dany Severac, Emmanuel Valjent, Julie Perroy, Emma Puighermanal
Fragile X syndrome (FXS) is a genetic disorder due to the silencing of the Fmr1 gene, causing intellectual disability, seizures, hyperactivity, and social anxiety. All these symptoms result from the loss of expression of the RNA binding protein fragile X mental retardation protein (FMRP), which alters the neurodevelopmental program to abnormal wiring of specific circuits. Aberrant mRNAs translation associated with the loss of Fmr1 product is widely suspected to be in part the cause of FXS. However, precise gene expression changes involved in this disorder have yet to be defined...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29098288/hypoglossal-nerve-stimulation-in-adolescents-with-down-syndrome-and-obstructive-sleep-apnea
#6
Gillian R Diercks, Carissa Wentland, Donald Keamy, Thomas Bernard Kinane, Brian Skotko, Vanessa de Guzman, Ellen Grealish, John Dobrowski, Ryan Soose, Christopher J Hartnick
Importance: Obstructive sleep apnea (OSA) affects up to 60% of children with Down syndrome (DS) and may persist in half of patients after adenotonsillectomy. Children with DS who have persistent OSA often do not tolerate treatment with positive pressure airway support devices or tracheotomy for their residual moderate to severe OSA. The hypoglossal nerve stimulator is an implantable device that delivers an electrical impulse to anterior branches of the hypoglossal nerve in response to respiratory variation, resulting in tongue base protrusion that alleviates upper airway obstruction in adults...
November 2, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29090036/the-autoimmunity-s-footprint-in-pediatrics-type-1-diabetes-coeliac-disease-thyroiditis
#7
Anca Orzan, Carmen Novac, Mihaela Mihu, Constantin Ionescu Tirgoviste, Mihaela Balgradean
The present case report aims to describe and discuss the approach for the management of difficult endotracheal intubation in an adult with Down syndrome undergoing cataract surgery. A 26-year-old female with Down syndrome and a validated diagnosis of cataract requiring surgery was examined in order to assess the degree of difficulty of endotracheal intubation. Patients with Down syndrome have characteristic craniofacial abnormalities which require a thorough pre-operative assessment to anticipate and prepare for a difficult endotracheal intubation...
June 2017: Mædica
https://www.readbyqxmd.com/read/29090034/endotracheal-intubation-in-a-down-syndrome-adult-undergoing-cataract-surgery-a-multidisciplinary-approach
#8
George Gabriel Moldoveanu, Emilia Severin, Andreea Paun
The present case report aims to describe and discuss the approach for the management of difficult endotracheal intubation in an adult with Down syndrome undergoing cataract surgery. A 26-year-old female with Down syndrome and a validated diagnosis of cataract requiring surgery was examined in order to assess the degree of difficulty of endotracheal intubation. Patients with Down syndrome have characteristic craniofacial abnormalities which require a thorough pre-operative assessment to anticipate and prepare for a difficult endotracheal intubation...
June 2017: Mædica
https://www.readbyqxmd.com/read/29079527/down-syndrome-from-development-to-adult-life-to-alzheimer-disease
#9
EDITORIAL
D Allan Butterfield, Marzia Perluigi
No abstract text is available yet for this article.
October 24, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29072042/active-exergames-to-improve-cognitive-functioning-in-neurological-disabilities-a-systematic-review-and-meta-analysis
#10
Gioia Mura, Mauro G Carta, Federica Sancassiani, Sergio Machado, Luca Prosperini
INTRODUCTION: Exergames represent a way to perform physical activity through active video games, serving as potentially useful tool in the field of neurorehabilitation. However, little is known regarding the possible role of exergames in improving cognitive functions in persons suffering from neurological disabilities. EVIDENCE ACQUISITION: A search for relevant articles was carried out on PubMed/Medline, Scopus, PEDro, and Google Scholar. Only randomized controlled studies and non-randomized but controlled studies were retained...
October 25, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29063524/on-the-relationship-between-proteinuria-and-plasma-phosphate
#11
Sophie de Seigneux, Alexandra Wilhelm-Bals, Marie Courbebaisse
Albuminuria is strongly associated with renal and cardiovascular outcomes independently of renal function level. However, the pathophysiology of these associations is debated. In chronic kidney disease (CKD), phosphate retention participates in cardiovascular events and increased cardiovascular mortality. We hypothesised that albuminuria may modulate tubular phosphate handling by the kidney. To verify this hypothesis, we first studied the association between phosphataemia and albuminuria in children with nephrotic syndrome and in adults with CKD...
October 24, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29058538/down-syndrome-and-alzheimer-s-disease-issues-and-implications-for-social-work-practice
#12
Jessica Fredericksen, Vanessa Fabbre
Due to recent medical advancements, people with Down Syndrome (DS) are now able to live much longer lives and thus face a variety of complex issues as they age. Alzheimer's Disease (AD) frequently occurs in older adults who have DS, but few practice guidelines exist to inform social work practice with older adults who have this dual diagnosis. This commentary will highlight the connection between these two conditions within a neurobiological framework and discuss implications for practice based on the available literature on this intersection of ability status, cognitive status and age...
October 23, 2017: Journal of Gerontological Social Work
https://www.readbyqxmd.com/read/29044151/modeling-and-preventing-progressive-hearing-loss-in-usher-syndrome-iii
#13
Ruishuang Geng, Akil Omar, Suhasini R Gopal, Daniel H-C Chen, Ruben Stepanyan, Martin L Basch, Astra Dinculescu, David N Furness, David Saperstein, William Hauswirth, Lawrence R Lustig, Kumar N Alagramam
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). Clrn1 knockout (KO) mice develop hair cell defects by postnatal day 2 (P2) and are deaf by P21-P25. Early onset profound hearing loss in KO mice and lack of information about the cochlear cell type that requires Clrn1 expression pose challenges to therapeutic investigation. We generated KO mice harboring a transgene, TgAC1, consisting of Clrn1-UTR (Clrn1 cDNA including its 5' and 3' UTR) under the control of regulatory elements (Atoh1 3' enhancer/β-globin basal promoter) to direct expression of Clrn1 in hair cells during development and down regulate it postnatally...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29027297/factors-associated-with-ambulatory-care-sensitive-emergency-department-visits-for-south-carolina-medicaid-members-with-intellectual-disability
#14
S McDermott, J Royer, J R Mann, B S Armour
INTRODUCTION: Ambulatory care sensitive conditions (ACSCs) can be seen as failure of access or management in primary care settings. Identifying factors associated with ACSCs for individuals with an Intellectual Disability (ID) provide insight into potential interventions. METHOD: To assess the association between emergency department (ED) ACSC visits and a number of demographic and health characteristics of South Carolina Medicaid members with ID. A retrospective cohort of adults with ID was followed from 2001 to 2011...
October 13, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29019631/disparities-in-life-course-outcomes-for-transition-aged-youth-with-disabilities
#15
Kruti Acharya, Regina Meza, Michael E Msall
Close to 750,000 youth with special health care needs transition to adult health care in the United States every year; however, less than one-half receive transition-planning services. Using the "F-words" organizing framework, this article explores life course outcomes and disparities in transition-aged youth with disabilities, with a special focus on youth with autism, Down syndrome, and cerebral palsy. Despite the importance of transition, a review of the available literature revealed that (1) youth with disabilities continue to have poor outcomes in all six "F-words" domains (ie, function, family, fitness, fun, friends, and future) and (2) transition outcomes vary by race/ethnicity and disability...
October 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/28987272/searching-for-new-pharmacological-targets-for-the-treatment-of-alzheimer-s-disease-in-down-syndrome
#16
Filippo Caraci, M Florencia Iulita, Rowan Pentz, Lisi Flores Aguilar, Chiara Orciani, Concetta Barone, Corrado Romano, Filippo Drago, A Claudio Cuello
Individuals with Down syndrome are at increased risk of developing Alzheimer's disease due to increase gene dosage resulting from chromosome 21 triplication. Although virtually all adults with Down syndrome will exhibit the major neuropathological hallmarks that define Alzheimer's disease, not all of them will develop the clinical symptoms associated with this disorder (i.e. dementia). Therefore, a good understanding of the pathophysiology of Alzheimer's disease in Down syndrome will be crucial for the identification of novel pharmacological targets to develop disease-modifying therapies for the benefit of Down syndrome individuals and for Alzheimer's sufferers alike...
October 5, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28980100/brief-report-repetitive-behaviour-profiles-in-williams-syndrome-cross-syndrome-comparisons-with-prader-willi-and-down-syndromes
#17
R Royston, C Oliver, J Moss, D Adams, K Berg, C Burbidge, P Howlin, L Nelson, C Stinton, J Waite
This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome...
October 4, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28972872/bone-mass-assessment-in-a-cohort-of-adults-with-down-syndrome-a-cross-sectional-study
#18
Ramón Costa, Rosa De Miguel, Clara García, Diego Real de Asúa, Santos Castañeda, Fernando Moldenhauer, Carmen Suárez
Differences in bone mineral density (BMD) have been observed between adults with Down syndrome (DS) and the general population. The purpose of this article is to describe the prevalence of bone mass disorders in a cohort of adults with DS and their predisposing factors. We performed a cross-sectional study of 104 consecutively recruited adults with DS from an outpatient clinic of a tertiary care hospital in Madrid, Spain. We recorded epidemiological and anthropometric data, nutritional variables, coexisting clinical conditions, and laboratory variables...
October 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#19
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28960662/do-adults-with-down-syndrome-do-the-same-amount-of-physical-activity-as-adults-without-disability-a-proof-of-principle-study
#20
Nora Shields, Samantha Plant, Catherine Warren, Dennis Wollersheim, Casey Peiris
BACKGROUND: This study compared levels of physical activity completed by adults with and without Down syndrome. METHOD: Fifteen adults with and 15 adults without Down syndrome matched for age and gender, took part. The intensity and duration of physical activity were measured using RT3 accelerometers worn for seven days. RESULTS: Only, 12 participants with Down syndrome had complete physical activity data, and these participants and their matched controls (total: six females, 18 males; aged 25...
September 27, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
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