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https://www.readbyqxmd.com/read/28545237/emotion-recognition-in-adolescents-with-down-syndrome-a-nonverbal-approach
#1
Régis Pochon, Claire Touchet, Laure Ibernon
Several studies have reported that persons with Down syndrome (DS) have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Their performance was compared to that of 24 typically developing children with the same nonverbal-developmental age, as assessed by Raven's Progressive Matrices...
May 23, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#2
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544488/obstructive-sleep-apnea-in-down-syndrome-benefits-of-surgery-and-noninvasive-respiratory-support
#3
Benjamin Dudoignon, Alessandro Amaddeo, Annick Frapin, Briac Thierry, Livio de Sanctis, Jorge Olmo Arroyo, Sonia Khirani, Brigitte Fauroux
Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28542867/use-of-active-video-gaming-in-children-with-neuromotor-dysfunction-a-systematic-review
#4
REVIEW
Robbin Hickman, Lisa Popescu, Robert Manzanares, Brendan Morris, Szu-Ping Lee, Janet S Dufek
AIM: To examine current evidence on use of active video gaming (AVG) to improve motor function in children with movement disorders including cerebral palsy, developmental coordination disorder, and Down syndrome. METHOD: Scopus, MEDLINE, Cochrane Library, EMBASE, and CINAHL were searched. Included papers studied the use of AVG for improving movement-related outcomes in these populations. Parameters studied included health condition, strength of evidence, AVG delivery methods, capacity for individualizing play, outcomes addressed, effectiveness for achieving outcomes, and challenges/limitations...
May 19, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28541008/protein-losing-enteropathy-as-a-complication-of-the-ketogenic-diet
#5
Won Kee Ahn, Soyoung Park, Heung Dong Kim
The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540658/overexpression-of-the-dyrk1a-gene-dual-specificity-tyrosine-phosphorylation-regulated-kinase-1a-induces-alterations-of-the-serotoninergic-and-dopaminergic-processing-in-murine-brain-tissues
#6
Jacqueline London, Claude Rouch, Linh Chi Bui, Elodie Assayag, Benoit Souchet, Fabrice Daubigney, Hind Medjaoui, Serge Luquet, Christophe Magnan, Jean Maurice Delabar, Julien Dairou, Nathalie Janel
Trisomy 21 (T21) or Down syndrome (DS) is the most common genetic disorder associated with intellectual disability and affects around 5 million persons worldwide. Neuroanatomical phenotypes associated with T21 include slight reduction of brain size and weight, abnormalities in several brain areas including spines dysgenesis, dendritic morphogenesis, and early neuroanatomical characteristics of Alzheimer's disease. Monoamine neurotransmitters are involved in dendrites development, functioning of synapses, memory consolidation, and their levels measured in the cerebrospinal fluid, blood, or brain areas that are modified in individuals with T21...
May 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28540023/outcomes-of-cataract-surgery-in-children-with-down-syndrome
#7
Murtaza Saifee, Lingkun Kong, Kimberly Guo Yen
No abstract text is available yet for this article.
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28538662/maternal-factors-that-induce-epigenetic-changes-contribute-to-neurological-disorders-in-offspring
#8
REVIEW
Avijit Banik, Deepika Kandilya, Seshadri Ramya, Walter Stünkel, Yap Seng Chong, S Thameem Dheen
It is well established that the regulation of epigenetic factors, including chromatic reorganization, histone modifications, DNA methylation, and miRNA regulation, is critical for the normal development and functioning of the human brain. There are a number of maternal factors influencing epigenetic pathways such as lifestyle, including diet, alcohol consumption, and smoking, as well as age and infections (viral or bacterial). Genetic and metabolic alterations such as obesity, gestational diabetes mellitus (GDM), and thyroidism alter epigenetic mechanisms, thereby contributing to neurodevelopmental disorders (NDs) such as embryonic neural tube defects (NTDs), autism, Down's syndrome, Rett syndrome, and later onset of neuropsychological deficits...
May 24, 2017: Genes
https://www.readbyqxmd.com/read/28538341/physical-activity-patterns-in-infants-with-and-without-down-syndrome
#9
Leah Ketcheson, E Andrew Pitchford, Hyun-Jin Kwon, Dale A Ulrich
PURPOSE: Individuals with Down syndrome (DS) are at greater risk for obesity than their peers who are developing typically. One factor contributing to an early onset of obesity is low levels of physical activity (PA). However, there is little known regarding PA patterns during infancy. METHODS: The purpose of this study was to examine the daily PA patterns in 22 infants developing typically and 11 infants with Down syndrome (aged 1-12 months) using Actigraph GT3X+ (wrist and ankle)...
May 19, 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28536925/parental-perspectives-on-pharmacological-clinical-trials-a-qualitative-study-in-down-syndrome-and-fragile-x-syndrome
#10
Victoria Reines, Krista Charen, Tracie Rosser, Arri Eisen, Stephanie L Sherman, Jeannie Visootsak
Research studies focusing on parents' perspectives of pharmacological clinical trials have not kept pace with the number of emerging pharmacologic clinical trials in Down syndrome (DS) and Fragile X syndrome (FXS). Since individuals with DS or FXS have limited cognitive ability to make decisions about their participation in clinical trials, it is important to consider the parents' perspectives and explore the ways in which decisions are made for their children. Using a semi-structured interview, we enrolled 9 parents of a child(ren) with FXS and 15 with a child with DS to analyze their views, experiences, and knowledge of pharmacological clinical trials...
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28535411/the-effectiveness-of-the-computerized-visual-perceptual-training-program-on-individuals-with-down-syndrome-an-fmri-study
#11
Yi-Ting Wan, Ching-Sui Chiang, Sharon Chia-Ju Chen, Yee-Pay Wuang
This study investigated the effectiveness of the Computerized Visual Perception Training (CVPT) program on individuals with Down syndrome (DS, mean age=13.17±4.35years, age range: 6.54-20.75 years). All participants have mild intellectual disability classified by the standard IQ measures (mean=61.2, ranges from 55 to 68). Both the Test of Visual Perceptual Skill- Third Edition (TVPS-3) and functional magnetic resonance imaging (fMRI) were used to evaluate the training outcomes. Results of TVPS-3 and fMRI showed that DS group had visual perceptual deficits and abnormal neural networks related to visual organization...
May 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28530321/-the-effect-of-down-syndrome-on-teeth-and-jaws-development-the-first-case-report-on-dental-implants-with-15-years-follow-up
#12
Uri Zilberman
Down syndrome presents dentists with several treatment problems due to hereditary olygodontia of permanent teeth, abnormal development of the midface causing small maxilla and class III occlusion, abnormal mineralization of teeth, reduced bone density and hypotony. The challenge of replacing missing permanent teeth was the trigger for the development of dental implants some 30 years ago. However, the abnormal development of jaw bones and the reverse occlusion caused concerns in the dental community regarding the possibility of using dental implants in Down syndrome patients...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28526191/aiding-risk-information-learning-through-simulated-experience-arise-using-simulated-outcomes-to-improve-understanding-of-conditional-probabilities-in-prenatal-down-syndrome-screening
#13
Pete Wegier, Victoria A Shaffer
OBJECTIVE: To determine whether the use of simulated experiences to communicate statistical information can improve an individual's understanding of conditional probabilities-specifically the positive predictive value (PPV) of prenatal screening tests for Down syndrome. METHODS: In Experiment 1 (N=64) and Experiment 2 (N=180) participants were asked to estimate the PPV of a prenatal screening test for Down syndrome based on either (1) explicit statistics regarding the prevalence of Down syndrome and the sensitivity and specificity of a prenatal screening test for Down syndrome, or (2) experiencing up to 5000 simulated test results over a short time...
April 26, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28523857/arrhythmia-burden-and-related-outcomes-in-eisenmenger-syndrome
#14
Shankar Baskar, Philippa Horne, Samantha Fitzsimmons, Philip R Khoury, Joseph Vettukattill, Koichiro Niwa, Teiji Agaki, Mark Spence, Hisanori Sakazaki, Gruschen Veldtman
BACKGROUND: Patients with Eisenmenger syndrome have a shorter lifespan than the general population. A significant proportion develop arrhythmia and some, sudden death. OBJECTIVE: The aims of this study were to characterize the frequency, type and effects of arrhythmias in adult patients with Eisenmenger's syndrome and to identify risk factors for arrhythmias. METHODS: This retrospective study included patients aged ≥ 18 years of age with Eisenmenger's syndrome from three institutions...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28522103/urinary-biomarkers-and-obstructive-sleep-apnea-in-patients-with-down-syndrome
#15
Ibrahim Elsharkawi, David Gozal, Eric A Macklin, Lauren Voelz, Gil Weintraub, Brian G Skotko
STUDY OBJECTIVES: The study aimed to compare urinary biomarkers in patients with Down syndrome (DS) with and without obstructive sleep apnea (OSA) to those of age- and sex-matched neurotypically developing healthy controls (HC). We further investigated whether we could predict OSA in patients with DS using these biomarkers. METHODS: Urine samples were collected from 58 patients with DS the night before or the morning after their scheduled overnight polysomnogram or both, of whom 47 could be age- and sex-matched to a sample of 43 HC...
June 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28521525/babbling-in-children-with-neurodevelopmental-disability-and-validity-of-a-simplified-way-of-measuring-canonical-babbling-ratio
#16
Anna Nyman, Anette Lohmander
Babbling is an important precursor to speech, but has not yet been thoroughly investigated in children with neurodevelopmental disabilities. Canonical babbling ratio (CBR) is a commonly used but time-consuming measure for quantifying babbling. The aim of this study was twofold: to validate a simplified version of the CBR (CBR(UTTER)), and to use this measure to determine if early precursors to speech and language development could be detected in children with different neurodevelopmental disabilities. Two different data sets were used...
May 19, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28521020/mid-term-outcomes-in-unbalanced-complete-atrioventricular-septal-defect-role-of-biventricular-conversion-from-single-ventricle-palliation%C3%A2
#17
Meena Nathan, Sitaram Emani, Rinske IJsselhof, Hua Liu, Kimberlee Gauvreau, Pedro Del Nido
OBJECTIVES: Management strategy for unbalanced complete atrioventricular septal defects (CASVSDs) includes single-ventricle (SV) palliation and primary or staged biventricular (BiV) repair. More recently, BiV conversion (BiVC) from SV palliation and staged BiV recruitment (BiVR) have also been advocated. This study assesses mid-term outcomes in patients with unbalanced CASVSDs according to management strategy. METHODS: Consecutive patients with unbalanced CASVSDs who underwent surgery at a tertiary care centre from January 2000 to February 2016 with institutional review board approval...
May 18, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28516971/salivary-biomarkers-and-proteomics-future-diagnostic-and-clinical-utilities
#18
M Castagnola, E Scarano, G C Passali, I Messana, T Cabras, F Iavarone, G Di Cintio, A Fiorita, E De Corso, G Paludetti
Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora...
April 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28515587/fetal-intra-abdominal-umbilical-vein-varix-case-series-and-review-of-literature
#19
Meenakshi Lallar, Shubha R Phadke
Fetal intraabdominal umbilical vein varix (FIUV) is focal dilatation of the intrabdominalumbilical vein of thefetus. It appears as a round or fusiform cystic structure in thefetal abdomen, which shows continuity with the umbilical vein ongrayscale andcolor Dopplerimaging. The diagnostic criteria include the FIUV varix diameter at least 50% wider than the diameter of the intrahepatic umbilical veinand an intraabdominal umbilical vein diameter exceeding 9 mm orgreater than twostandard deviations above the mean for gestational age...
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28513774/hippocampal-overexpression-of-down-syndrome-cell-adhesion-molecule-in-amyloid-precursor-protein-transgenic-mice
#20
Y L Jia, Z X Fu, B H Zhang, Y J Jia
Down syndrome cell adhesion molecule (DSCAM) is located within the Down syndrome critical region of chromosome 21. DSCAM is a broadly expressed neurodevelopmental protein involved in synaptogenesis, neurite outgrowth, and axon guidance. We previously demonstrated DSCAM overexpression in the cortex of amyloid precursor protein (APP) transgenic mice, suggesting possible regulatory interactions between APP and DSCAM. APP mice exhibit deficits in hippocampus-dependent learning and memory. In this preliminary study, we examined age-related changes in DSCAM expression within the hippocampus in 16 APP transgenic mice (1, 3, 6 and 12 months old)...
May 15, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
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