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https://www.readbyqxmd.com/read/29793102/joint-attention-in-down-syndrome-a-meta-analysis
#1
REVIEW
Laura J Hahn, Susan J Loveall, Madison T Savoy, Allie M Neumann, Toshikazu Ikuta
BACKGROUND: Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. AIM: To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). METHODS AND PROCEDURES: Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention"...
May 21, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29791717/termination-of-pregnancy-following-a-prenatal-diagnosis-of-down-syndrome-a-qualitative-study-of-the-decision-making-process-of-pregnant-couples
#2
Stina Lou, Kathrine Carstensen, Olav Bjørn Petersen, Camilla Palmhøj Nielsen, Lone Hvidman, Maja Retpen Lanther, Ida Vogel
In Denmark, first trimester screening has a very high uptake (>90%). If Down syndrome is diagnosed, termination rates are high (>95%). The aim of this study was to investigate the timing of the decision of termination of pregnancy following a Down syndrome diagnosis and the factors influencing this decision MATERIAL AND METHODS: Semi-structured, qualitative interview study with 21 couples who had received a prenatal diagnosis of Down syndrome and decided to terminate the pregnancy. Participants were recruited from obstetric departments between February 2016 and July 2017...
May 23, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29789029/pediatric-brain-development-in-down-syndrome-a-field-in-its-infancy
#3
Taralee Hamner, Manisha D Udhnani, Karol Z Osipowicz, Nancy Raitano Lee
OBJECTIVES: As surprisingly little is known about the developing brain studied in vivo in youth with Down syndrome (DS), the current review summarizes the small DS pediatric structural neuroimaging literature and begins to contextualize existing research within a developmental framework. METHODS: A systematic review of the literature was completed, effect sizes from published studies were reviewed, and results are presented with respect to the DS cognitive behavioral phenotype and typical brain development...
May 23, 2018: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29788530/need-for-long-term-care-in-children-is-increasingly-caused-by-disorders-of-psychological-development-changes-in-the-care-causing-diagnoses-according-to-german-social-code-sgb-xi-between-2009-2014
#4
Julia Christiane Beck-Ripp, Holger Dressel
AIM OF THE STUDY: There is an ongoing discussion on the increasing number of children with mental and developmental disorders, with some even needing long-term care according to the German Social Code XI. This study was performed to identify the main diagnoses justifying such care in children and to analyse their prevalence over time. METHODS: The diagnoses justifying long-term care were evaluated using care assessments of Bavarian children and adolescents between 2009 to 2014 by the medical service of statutory health insurance...
May 22, 2018: Das Gesundheitswesen
https://www.readbyqxmd.com/read/29781149/supporting-advanced-dementia-in-people-with-down-syndrome-and-other-intellectual-disability-consensus-statement-of-the-international-summit-on-intellectual-disability-and-dementia
#5
M McCarron, P McCallion, A Coppus, J Fortea, S Stemp, M Janicki, K Wtachman
BACKGROUND: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorised as that stage of dementia progression characterised by significant losses in cognitive and physical function, including a high probability of further deterioration and leading to death. METHOD: The question before the Summit was whether there were similarities and differences in expressions of advanced dementia between adults with intellectual disability (ID) and adults in the general population...
May 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29781076/first-trimester-combined-screening-for-fetal-aneuploidies-enhanced-with-additional-ultrasound-markers-an-8-year-prospective-study
#6
Dragos Nemescu, Adina Bratie, Alexandra Mihaila, Dan Navolan, Adina Tanase
OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A)...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29780859/monoaminergic-impairment-in-down-syndrome-with-alzheimer-s-disease-compared-to-early-onset-alzheimer-s-disease
#7
Alain D Dekker, Yannick Vermeiren, Maria Carmona-Iragui, Bessy Benejam, Laura Videla, Ellen Gelpi, Tony Aerts, Debby Van Dam, Susana Fernández, Alberto Lleó, Sebastian Videla, Anne Sieben, Jean-Jacques Martin, Rafael Blesa, Juan Fortea, Peter P De Deyn
Introduction: People with Down syndrome (DS) are at high risk for Alzheimer's disease (AD). Defects in monoamine neurotransmitter systems are implicated in DS and AD but have not been comprehensively studied in DS. Methods: Noradrenaline, adrenaline, and their metabolite 3-methoxy-4-hydroxyphenylglycol (MHPG); dopamine and its metabolites 3,4-dihydroxyphenylacetic acid (DOPAC) and homovanillic acid; and serotonin and its metabolite 5-hydroxyindoleacetic acid were quantified in 15 brain regions of DS without AD (DS, n = 4), DS with AD (DS+AD, n = 17), early-onset AD (EOAD, n = 11) patients, and healthy non-DS controls (n = 10) in the general population...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/29780667/modulation-of-transcriptional-activity-in-brain-lower-grade-glioma-by-alternative-splicing
#8
Jin Li, Yang Wang, Xianglian Meng, Hong Liang
Proteins that modify the activity of transcription factors (TFs) are often called modulators and play a vital role in gene transcriptional regulation. Alternative splicing is a critical step of gene processing, and differentially spliced isoforms may have different functions. Alternative splicing can modulate gene function by adding or removing certain protein domains and thereby influence the activity of a protein. The objective of this study is to investigate the role of alternative splicing in modulating the transcriptional regulation in brain lower grade glioma (LGG), especially transcription factor ELK1, which is closely related to various disorders, including Alzheimer's disease and Down syndrome...
2018: PeerJ
https://www.readbyqxmd.com/read/29780346/response-inhibition-and-interference-suppression-in-individuals-with-down-syndrome-compared-to-typically-developing-children
#9
Laura Traverso, Martina Fontana, Maria Carmen Usai, Maria C Passolunghi
The present study aims to investigate inhibition in individuals with Down Syndrome compared to typically developing children with different inhibitory tasks tapping response inhibition and interference suppression. Previous studies that aimed to investigate inhibition in individuals with Down Syndrome reported contradictory results that are difficult to compare given the different types of inhibitory tasks used and the lack of reference to a theoretical model of inhibition that was tested in children (see Bunge et al...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29779565/periodontal-disease-in-patients-with-down-syndrome-a-systematic-review
#10
REVIEW
Flávia Almeida Ribeiro Scalioni, Camila Faria Carrada, Carolina Castro Martins, Rosangela Almeida Ribeiro, Saul Martins Paiva
BACKGROUND: The authors systematically reviewed the scientific evidence of an association between periodontal disease and Down syndrome (DS). TYPES OF STUDIES REVIEWED: In this systematic review, the authors included observational studies in which the investigators assessed the prevalence, incidence, or experience of periodontal disease in patients with DS compared with that in healthy patients. The authors used the Population, Exposure, Comparison, Outcome structure...
May 17, 2018: Journal of the American Dental Association
https://www.readbyqxmd.com/read/29777603/-communication-of-the-diagnosis-of-down-syndrome-mother-s-stories
#11
Teresa Vargas Aldecoa, José Luis Martin Conty, Rosa María Conty Serrano, Cristina Fernández Pérez
The article studies the way in which health professionals communicate the diagnosis of Down syndrome to parents. For that the personal stories of the mothers collected in the answers given by them to the open questions of a questionnaire on ″communication of the diagnosis″ are analyzed. The results show the mothers' dissatisfaction with the information received during the prenatal and postnatal diagnosis of Down síndrome.
May 2018: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/29776964/arrhythmias-in-adult-patients-with-congenital-heart-disease-and-pulmonary-arterial-hypertension
#12
Maria Drakopoulou, Heba Nashat, Aleksander Kempny, Rafael Alonso-Gonzalez, Lorna Swan, Stephen J Wort, Laura C Price, Colm McCabe, Tom Wong, Michael A Gatzoulis, Sabine Ernst, Konstantinos Dimopoulos
OBJECTIVES: Approximately 5%-10% of adults with congenital heart disease (CHD) develop pulmonary arterial hypertension (PAH), which affects life expectancy and quality of life. Arrhythmias are common among these patients, but their incidence and impact on outcome remains uncertain. METHODS: All adult patients with PAH associated with CHD (PAH-CHD) seen in a tertiary centre between 2007 and 2015 were followed for new-onset atrial or ventricular arrhythmia. Clinical variables associated with arrhythmia and their relation to mortality were assessed using Cox analysis...
May 18, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29774549/extracorporeal-membrane-oxygenation-characteristics-and-outcomes-in-adult-patients-with-down-syndrome
#13
Vicky Duffy, Daniel Gomez, Peter Rycus, Brian Rivera, Stephanie L Santoro, Carl H Backes, Clifford L Cua
Patients with Down syndrome (DS) may have multiple medical issues that place them at risk for requiring extracorporeal membrane oxygenation. Use of extracorporeal membrane oxygenation in pediatric patients with Down syndrome has been described, but minimal data exist for extracorporeal membrane oxygenation use in adults with Down syndrome. The goal of this study was to describe the clinical characteristics and to determine if there were differences between adult extracorporeal membrane oxygenation patients with Down syndrome that were alive (aDS) versus those that died (dDS) prior to hospital discharge...
May 17, 2018: Artificial Organs
https://www.readbyqxmd.com/read/29774174/outpatient-interventions-that-may-enhance-the-care-of-a-patient-with-co-existing-moyamoya-and-down-syndromes
#14
Anita Lwanga, Waldo Herrera, Katya Cruz Madrid, Antony Irungu
Moyamoya vasculopathy is a condition of chronic, progressive occlusion of the distal internal carotid arteries and the Circle of Willis. The resultant ischemia produces compensatory angiogenesis and the growth of a network of collateral blood vessels, which on angiography resemble a "puff of smoke" or "moyamoya" in Japanese. The objective of this case report is to describe the clinical course of a patient with Down and moyamoya syndromes and to enlighten clinicians about strategies that can be taken to enhance the care of similar patients...
March 16, 2018: Curēus
https://www.readbyqxmd.com/read/29772935/the-effects-of-literacy-interventions-on-single-word-reading-for-individuals-who-use-aided-aac-a-systematic-review
#15
Kelsey Mandak, Janice Light, Susannah Boyle
The purpose of this systematic review was to investigate the effects of instruction on single-word reading of individuals who use aided augmentative and alternative communication (AAC). A systematic search identified nine single-case experimental design studies that involved 24 individuals who used aided AAC. Overall, the evidence indicated that instruction had positive effects on reading at the single-word level for individuals across ages and diagnostic categories (i.e., autism spectrum disorder (ASD), cerebral palsy (CP), Down syndrome, and intellectual disability)...
May 18, 2018: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/29770843/patterns-and-severity-of-vascular-amyloid-in-alzheimer-s-disease-associated-with-duplications-and-missense-mutations-in-app-gene-down-syndrome-and-sporadic-alzheimer-s-disease
#16
David M A Mann, Yvonne S Davidson, Andrew C Robinson, Nancy Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, Vee Prasher, Takeshi Iwatsubo, Andre Strydom
In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer's disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes...
May 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29761882/the-prevalence-of-obesity-in-children-and-young-people-with-down-syndrome
#17
Muireann O' Shea, Carol O' Shea, Louise Gibson, Jennifer Leo, Catherine Carty
BACKGROUND: Overweight and obesity is a growing concern among individuals with intellectual disabilities; however, little is known about the prevalence among children and youth with Down syndrome (CYDS). The purpose of this study was to determine the prevalence of overweight/obesity among CYDS in South West Ireland. METHODS: This cross-sectional study measured height and weight of 61 CYDS aged 4-16 years. Body mass index (BMI) was calculated and percentage body fat (PBF) was measured using bio-electrical impendence analysis (BIA)...
May 15, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29760348/what-causes-pulmonary-arterial-hypertension-in-down-syndrome-with-congenital-heart-disease
#18
Susumu Hosokawa, Rebecca R Vanderpool, Taku Ishii, Mitsunori Nishiyama, Shozaburo Doi
No abstract text is available yet for this article.
May 12, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29760202/survey-of-human-chromosome-21-gene-expression-effects-on-early-development-in-danio-rerio
#19
Sarah Edie, Norann A Zaghloul, Carmen C Leitch, Donna K Klinedinst, Janette Lebron, Joey F Thole, Andrew S McCallion, Nicholas Katsanis, Roger H Reeves
Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS), one of the most genetically complex conditions compatible with human survival. Assessment of the physiological consequences of dosage-driven overexpression of individual Hsa21 genes during early embryogenesis and the resulting contributions to DS pathology in mammals are not tractable in a systematic way. A recent study looked loss-of-function of C. elegans orthologues of Hsa21 genes and identified ten candidates with behavioral phenotypes, but the equivalent over-expression experiment has not been done...
May 14, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29760010/home-oximetry-to-screen-for-obstructive-sleep-apnoea-in-down-syndrome
#20
Catherine M Hill, Heather E Elphick, Michael Farquhar, Paul Gringras, Ruth M Pickering, Ruth N Kingshott, Jane Martin, Janine Reynolds, Anna Joyce, Johanna C Gavlak, Hazel J Evans
OBJECTIVE: Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic multichannel sleep studies. DESIGN: Cross-sectional prospective study in a training sample recruited through three UK centres. Validation sample used single-centre retrospective analysis of clinical data...
May 14, 2018: Archives of Disease in Childhood
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