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https://www.readbyqxmd.com/read/29330572/effects-of-whole-body-vibration-on-muscle-strength-bone-mineral-content-and-density-and-balance-and-body-composition-of-children-and-adolescents-with-down-syndrome-a-systematic-review
#1
REVIEW
M B Saquetto, F F Pereira, R S Queiroz, C M da Silva, C S Conceição, M Gomes Neto
The aim of this study is to verify the effects of whole-body vibration (WBV) training on the muscle strength of children and adolescents with Down syndrome. We searched MEDLINE, Cochrane, SciELO, Lilacs and PUBMED databases and included manual searches to identify randomised controlled trials to investigate the effects of WBV on the structure and body function of children and adolescents with Down syndrome. Two reviewers independently selected the studies and performed statistical analysis. In total, five studies with 171 patients that compared WBV with exercise and/or control were included...
January 12, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29329955/longitudinal-predictors-of-early-language-in-infants-with-down-syndrome-a-preliminary-study
#2
Emily Mason-Apps, Vesna Stojanovik, Carmel Houston-Price, Sue Buckley
PURPOSE: Children with Down syndrome (DS) typically have marked delays in language development relative to their general cognitive development, with particular difficulties in expressive compared to receptive language. Although early social communication skills, including gestures and joint attention, have been shown to be related to later language outcomes in DS, knowledge is limited as to whether these factors exclusively predict outcomes, or whether other factors (e.g. perceptual and non-verbal skills) are involved...
January 9, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29329773/total-energy-expenditure-and-body-composition-of-children-with-developmental-disabilities
#3
Michele Polfuss, Kathleen J Sawin, Paula E Papanek, Linda Bandini, Bethany Forseth, Andrea Moosreiner, Kimberley Zvara, Dale A Schoeller
BACKGROUND: Obesity prevalence is increased in children with developmental disabilities, specifically in children with spina bifida and Down syndrome. Energy expenditure, a critical aspect of weight management, has been extensively studied in the typically developing population, but not adequately studied in children with developmental disabilities. OBJECTIVE: Determine energy expenditure, fat-free mass and body fat percentile and the impact of these findings on recommended caloric intake in children with spina bifida and Down syndrome...
December 28, 2017: Disability and Health Journal
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#4
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
January 8, 2018: Surgery
https://www.readbyqxmd.com/read/29324645/esophageal-web-in-a-down-syndrome-infant-a-rare-case-report
#5
Nirmala Thomas, Roy J Mukkada, Muhammed Jasim Abdul Jalal, Nisha Narayanankutty
We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down's syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature...
January 11, 2018: Children
https://www.readbyqxmd.com/read/29314419/convergent-validity-of-actigraphy-with-polysomnography-and-parent-reports-when-measuring-sleep-in-children-with-down-syndrome
#6
A J Esbensen, E K Hoffman, E Stansberry, R Shaffer
BACKGROUND: There is a need for rigorous measures of sleep in children with Down syndrome as sleep is a substantial problem in this population and there are barriers to obtaining the gold standard polysomnography (PSG). PSG is cost-prohibitive when measuring treatment effects in some clinical trials, and children with Down syndrome may not cooperate with undergoing a PSG. Minimal information is available on the validity of alternative methods of assessing sleep in children with Down syndrome, such as actigraphy and parent ratings...
January 5, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29305224/snpitty-an-intuitive-web-application-for-interactive-b-allele-frequency-and-copy-number-visualization-of-next-generation-sequencing-data
#7
Job van Riet, Niels M G Krol, Peggy N Atmodimedjo, Erwin Brosens, Wilfred F J van IJcken, Maurice P H M Jansen, John W M Martens, Leendert H Looijenga, Guido Jenster, Hendrikus J Dubbink, Winand N M Dinjens, Harmen J G van de Werken
Exploration and visualization of next-generation sequencing data is crucial for clinical diagnostics. Software allowing simultaneous visualization of multiple regions-of-interest coupled with dynamic heuristic filtering of genetic aberrations is however lacking. Therefore, we developed the web-application SNPitty that allows interactive visualization and interrogation of variant call format (VCF) files by utilizing B-allele frequencies of single nucleotide polymorphisms and single nucleotide variants, coverage metrics and copy-numbers analysis results...
January 2, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29303660/acute-megakaryoblastic-leukemia-excluding-down-syndrome-remains-an-acute-myeloid-subgroup-with-inferior-outcome-in-the-french-elam02-trial
#8
Anne-Charlotte Teyssier, Hélène Lapillonne, Marlene Pasquet, Paola Ballerini, André Baruchel, Stephane Ducassou, Odile Fenneteau, Arnaud Petit, Wendy Cuccuini, Christine Ragu, Claude Preudhomme, Thomas Mercher, Nicolas Sirvent, Guy Leverger
We report the outcome of 27 children with de novo acute megakaryoblastic leukemia (AMKL) (excluding Down syndrome) enrolled in the French multicenter prospective study ELAM02 (2005-2011). There was no difference in gender, initial leukocyte count, CNS involvement, and complete remission rate (88.9%), as compared to other acute myeloid leukemia (AML) subtypes. AMKL patients had a significantly poorer outcome (5-year overall survival 54% [CI 95% 33%-71%] than children with other AML subtypes (5-year overall survival 73% [CI 95% 68%-77%] p = 0...
January 5, 2018: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29302319/the-burden-of-respiratory-syncytial-virus-rsv-associated-acute-lower-respiratory-infections-in-children-with-down-syndrome-a-systematic-review-and-meta-analysis
#9
Markus Chan, John J Park, Ting Shi, Federico Martinón-Torres, Louis Bont, Harish Nair
Background: Acute lower respiratory tract infections (ALRIs) caused by respiratory syncytial virus (RSV) are a leading cause of hospitalization in infants. Numerous risk factors have been identified in the aetiology of severe RSV-associated ALRI necessitating hospitalisation, including prematurity and congenital heart disease. Down syndrome (DS), a common genetic disorder associated with congenital and dysmorphic features, has recently been identified as an independent risk factor for RSV-associated ALRI requiring hospitalisation; however, the disease burden of RSV-associated ALRI in this population has not yet been established...
December 2017: Journal of Global Health
https://www.readbyqxmd.com/read/29300981/chromosome-screening-using-noninvasive-prenatal-testing-beyond-trisomy-21-what-to-screen-for-and-why-it-matters
#10
Kristien Hens
With the new and highly accurate noninvasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman's reproductive autonomy...
December 29, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/29296929/red-blood-cell-metabolism-in-down-syndrome-hints-on-metabolic-derangements-in-aging
#11
Rachel Culp-Hill, Connie Zheng, Julie A Reisz, Keith Smith, Angela Rachubinski, Travis Nemkov, Eric Butcher, Ross Granrath, Kirk C Hansen, Joaquín M Espinosa, Angelo D'Alessandro
Red blood cells (RBCs) are the most abundant cell in the human body. During their ∼120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity. Owing to the relative simplicity of their intrinsic metabolism and the abundance of metabolite transporters in RBC membranes, the metabolism of mature erythrocytes indirectly mirrors systemic metabolic homeostasis and its alterations as a function of physiological factors, such as aging. Trisomy 21 (T21), the etiological factor of Down syndrome (DS), has been shown to cause chronic autoinflammation, promoting alterations in RBC life span, size (macrocytosis), and redox homeostasis...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29295640/pedometer-determined-physical-activity-levels-of-healthy-children-and-children-with-down-s-syndrome
#12
Adel A Alhusaini, Misfer Ali Al-Walah, Ganeswara Rao Melam, Syamala Buragadda
PURPOSE: Children with Down's syndrome (DS) are considered sedentary and less engaged in recommended physical activity (PA) levels. This study compared the PA levels between children with DS and healthy children in Saudi Arabia. METHODS: The study included 85 children divided into two groups. The DS group comprised 37 children with DS aged 8-12 years recruited from the Down Syndrome Charitable Association and Al-Nahda Schools for DS. The healthy group comprised 41 healthy children aged 8-12 years recruited from regular schools in the same region...
January 3, 2018: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/29290964/tetratricopeptide-repeat-domain-3-overexpression-tends-to-form-aggregates-and-inhibit-ubiquitination-and-degradation-of-dna-polymerase-%C3%AE
#13
Yueqing Gong, Xiaolan Wang, Xuan Shang, Sheng Ping Xiao, Wanjie Li, Yu Shang, Fei Dou
Tetratricopeptide repeat (TPR) domain 3 (TTC3) is a protein that contains canonical RING finger and TPR motifs. It is encoded by the TTC3 gene located in the Down syndrome critical region (DSCR). In this study, we used a yeast two-hybrid assay to identify several proteins that physically interact with TTC3, including heat shock proteins and DNA polymerase γ (POLG). When TTC3 was overexpressed in mammalian cells, the ubiquitination of POLG was inhibited and its degradation slowed. High TTC3 protein expression led to the development of intracellular TTC3 aggregates, which also contained POLG...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29289955/association-between-body-mass-index-and-dental-caries-among-special-care-female-children-in-makkah-city
#14
Nisreen Adnan Ashour, Amal Adnan Ashour, Sakeena Basha
BACKGROUND: Dental caries and obesity are multifactorial diseases with diet being a common contributory factor. OBJECTIVE: The main purpose of the present study was to investigate the association between dental caries and obesity among special care female school children in Makkah City, Saudi Arabia. DESIGN: Analytical cross-sectional study. SETTING: Special schools in Makkah City. STUDY POPULATION AND METHODS: Schools were chosen by lottery and female children were ran...
December 31, 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29282827/links-between-sleep-and-daytime-behaviour-problems-in-children-with-down-syndrome
#15
A J Esbensen, E K Hoffman, D W Beebe, K C Byars, J Epstein
BACKGROUND: In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome...
December 28, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29281324/multimorbidity-and-polypharmacy-are-independently-associated-with-mortality-in-older-people-with-intellectual-disabilities-a-5-year-follow-up-from-the-ha-id-study
#16
Josje D Schoufour, Alyt Oppewal, Hanne J K van der Maarl, Heidi Hermans, Heleen M Evenhuis, Thessa I M Hilgenkamp, Dederieke A Festen
We studied the association between multimorbidity, polypharmacy, and mortality in 1,050 older adults (50+) with intellectual disability (ID). Multimorbidity (presence of ≥ 4 chronic health conditions) and polypharmacy (presence ≥ 5 chronic medication prescriptions) were collected at baseline. Multimorbidity included a wide range of disorders, including hearing impairment, thyroid dysfunction, autism, and cancer. Mortality data were collected during a 5-year follow-up period. Cox proportional hazards models were used to determine the independent association between multimorbidity and polypharmacy with survival...
January 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29281322/causes-of-mortality-in-older-people-with-intellectual-disability-results-from-the-ha-id-study
#17
Alyt Oppewal, Josje D Schoufour, Hanne J K van der Maarl, Heleen M Evenhuis, Thessa I M Hilgenkamp, Dederieke A Festen
We aim to provide insight into the cause-specific mortality of older adults with intellectual disability (ID), with and without Down syndrome (DS), and compare this to the general population. Immediate and primary cause of death were collected through medical files of 1,050 older adults with ID, 5 years after the start of the Healthy Ageing and Intellectual Disabilities (HA-ID) study. During the follow-up period, 207 (19.7%) participants died, of whom 54 (26.1%) had DS. Respiratory failure was the most common immediate cause of death (43...
January 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29280489/down-syndrome-and-pediatric-obstructive-sleep-apnea-surgery-a-national-cohort
#18
Adrian A Ong, Carlyn M Atwood, Shaun A Nguyen, Ronald J Teufel, Chitra Lal, Angela C LaRosa, David R White
OBJECTIVES/HYPOTHESIS: To analyze the trend of sleep surgeries in pediatric patients with Down syndrome (DS) and obstructive sleep apnea (OSA), and to compare this to nonsyndromic (NS) children with OSA. STUDY DESIGN: Retrospective cohort database analysis. METHODS: Analysis of the 1997 to 2012 editions of the Kid's Inpatient Database was conducted. Using International Classification of Diseases, Ninth Revision codes, all patients with OSA were identified, and subsequently, subgroups of NS children and children with DS were identified...
December 27, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29280247/learning-by-observation-and-learning-by-doing-in-down%C3%A2-and%C3%A2-williams%C3%A2-syndromes
#19
Francesca Foti, Deny Menghini, Paolo Alfieri, Floriana Costanzo, Laura Mandolesi, Laura Petrosini, Stefano Vicari
New skills may be learned by active experience (experiential learning or learning by doing) or by observation of others' experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome...
December 26, 2017: Developmental Science
https://www.readbyqxmd.com/read/29280230/high-prevalence-of-diabetes-mellitus-hypertension-and-obesity-among-persons-with-a-recorded-diagnosis-of-intellectual-disability-or-autism-spectrum-disorder
#20
E Flygare Wallén, G Ljunggren, A C Carlsson, D Pettersson, P Wändell
BACKGROUND: Obesity and lack of physical activity are frequently reported in persons with intellectual disability (ID) or autism spectrum disorder (ASD). We hypothesised a higher prevalence of diabetes and hypertension in this population. METHOD: We used administrative data for all primary and specialist outpatient and inpatient healthcare consultations for people with at least one recorded diagnosis of diabetes mellitus, hypertension or obesity from 1998 to 2015...
December 26, 2017: Journal of Intellectual Disability Research: JIDR
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