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"williams syndrome"

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https://www.readbyqxmd.com/read/28287063/fatal-severe-coronary-artery-stenosis-in-williams-syndrome-decision-making-using-late-gadolinium-enhancement-cardiovascular-mri
#1
Inga Voges, Rodney C Franklin, Ricardo Wage, Sonya V Babu-Narayan
Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.
March 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28277153/delineation-of-a-spatial-working-memory-profile-using-a-non-verbal-eye-tracking-paradigm-in-young-children-with-autism-and-williams-syndrome
#2
Peter A J Fanning, Darren R Hocking, Cheryl Dissanayake, Giacomo Vivanti
Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands...
February 9, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28271572/problem-behaviour-and-psychosocial-functioning-in-young-children-with-williams-syndrome-parent-and-teacher-perspectives
#3
B P Klein-Tasman, K Lee
BACKGROUND: There is sparse literature about problem behaviour in young children with Williams syndrome (WS) and little consideration of the perspectives of multiple respondents. METHODS: Problem behaviour of 35 children with WS ages 2 to 6 was examined based on both parent and teacher report using the Achenbach preschool forms. RESULTS: The most prominent areas of difficulty based on both parent and teacher report were attention problems, pervasive developmental problems and emotion reactivity difficulties...
March 7, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28270868/preserved-search-asymmetry-in-the-detection-of-fearful-faces-among-neutral-faces-in-individuals-with-williams-syndrome-revealed-by-measurement-of-both-manual-responses-and-eye-tracking
#4
Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi, Miho Nakamura
BACKGROUND: Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes fear-related information. However, evidence is lacking regarding the detection mechanisms of fearful faces for individuals with WS. Here, we introduce a visual search paradigm to elucidate the mechanisms for detecting fearful faces by evaluating the search asymmetry; the reaction time when both the target and distractors were swapped was asymmetrical...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28257245/behavioral-profiles-of-children-with-williams-syndrome-from-spain-and-the-united-states-cross-cultural-similarities-and-differences
#5
Débora Pérez-García, Carme Brun-Gasca, Luis A Pérez-Jurado, Carolyn B Mervis
To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than the American sample for all of the higher-order factors and half of both the empirically based and Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales...
March 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28254817/deficient-circumferential-growth-is-the-primary-determinant-of-aortic-obstruction-attributable-to-partial-elastin-deficiency
#6
Yang Jiao, Guangxin Li, Arina Korneva, Alexander W Caulk, Lingfeng Qin, Matthew R Bersi, Qingle Li, Wei Li, Robert P Mecham, Jay D Humphrey, George Tellides
OBJECTIVE: Williams syndrome is characterized by obstructive aortopathy attributable to heterozygous loss of ELN, the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent medial expansion, although an initially smaller caliber and increased stiffness of the aorta may contribute to luminal narrowing. The relative contributions of such abnormalities to the obstructive phenotype had not been defined. APPROACH AND RESULTS: We quantified determinants of luminal stenosis in thoracic aortas of Eln(-/-) mice incompletely rescued by human ELN...
March 2, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28254647/altered-body-composition-lipedema-and-decreased-bone-density-in-individuals-with-williams-syndrome-a-preliminary-report
#7
Jessica L Waxler, Cara Guardino, Richard S Feinn, Hang Lee, Barbara R Pober, Takara L Stanley
No abstract text is available yet for this article.
February 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28229087/modeling-williams-syndrome-with-induced-pluripotent-stem-cells
#8
Thanathom Chailangkarn, Alysson R Muotri
The development of induced pluripotent stem cells (iPSCs) like never before has opened novel opportunity to study diseases in relevant cell types. In our recent study, Williams syndrome (WS), a rare genetic neurodevelopmental disorder, that is caused by hemizygous deletion of 25-28 genes on chromosome 7, is of interest because of its unique cognitive and social profiles. Little is known about haploinsufficiency effect of those deleted genes on molecular and cellular phenotypes at the neural level due to the lack of relevant human cellular model...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28187205/an-event-related-potential-study-of-ihibitory-and-attentional-control-in-williams-syndrome-adults
#9
Joanna M H Greer, Colin Hamilton, Mhairi E G McMullon, Deborah M Riby, Leigh M Riby
The primary aim of the current study was to employ event-related potentials (ERPs) methodology to disentangle the mechanisms related to inhibitory control in older adults with Williams syndrome (WS). Eleven older adults with WS (mean age 42), 16 typically developing adults (mean age 42) and 13 typically developing children (mean age 12) participated in the study. ERPs were recorded during a three-stimulus visual oddball task, during which participants were required to make a response to a rare target stimulus embedded in a train of frequent non-target stimuli...
2017: PloS One
https://www.readbyqxmd.com/read/28185328/where-is-the-subjective-straight-ahead-in-williams-syndrome
#10
A Saj, J Heiz, K Barisnikov
BACKGROUND: Individuals with Williams Syndrome (WS) are known to have particular difficulties when performing visuo-spatial tasks, which could be related to their difficulties in using a specific reference system to determine spatial relations. The aim of the present study was to assess the internal representation of the body's sagittal plane, which is an important benchmark for an egocentric frame of reference. METHOD: The results of 18 WS individuals (mean age = 20...
February 10, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28130077/attention-to-novelty-versus-repetition-contrasting-habituation-profiles-in-autism-and-williams-syndrome
#11
Giacomo Vivanti, Darren R Hocking, Peter A J Fanning, Mirko Uljarevic, Valentina Postorino, Luigi Mazzone, Cheryl Dissanayake
BACKGROUND: Abnormalities in habituation have been documented in Autism Spectrum Disorder (ASD) and Williams syndrome (WS). Such abnormalities have been proposed to underlie the distinctive social and non-social difficulties that define ASD, including sensory features and repetitive behaviours, and the distinctive social phenotype characterizing WS. METHODS: We measured habituation in 39 preschoolers with ASD, 20 peers with WS and 19 typically developing (TD) children using an eye-tracking protocol that measured participants' duration of attention in response to a repeating stimulus and a novel stimulus presented side by side across multiple trials...
January 19, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28118194/ameloblastoma-in-a-patient-with-williams-syndrome-and-use-of-fibular-flap
#12
Fatma Betul Tuncer, Bulent Sacak, Zeynep Deniz Akdeniz, Ozhan Celebiler
No abstract text is available yet for this article.
January 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28088702/the-social-nature-of-overimitation-insights-from-autism-and-williams-syndrome
#13
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
When imitating novel actions, typically developing preschoolers often copy components of the demonstration that are unrelated to the modeled action's goal, a phenomenon known as 'overimitation'. According to the social motivation account, overimitation fulfills social affiliation motives (i.e., the imitator's drive to experience social connectedness with the demonstrator and the social context). Conversely, according to the social-cognitive account, overimitation reflects overattribution of causal relevance (i...
January 12, 2017: Cognition
https://www.readbyqxmd.com/read/28041919/negative-subthreshold-psychotic-symptoms-distinguish-22q11-2-deletion-syndrome-from-other-neurodevelopmental-disorders-a-two-site-study
#14
Ehud Mekori-Domachevsky, Yael Guri, James Yi, Omri Weisman, Monica E Calkins, Sunny X Tang, Raz Gross, Donna M McDonald-McGinn, Beverly S Emanuel, Elaine H Zackai, Gil Zalsman, Abraham Weizman, Ruben C Gur, Raquel E Gur, Doron Gothelf
About one third of individuals with 22q11.2 deletion syndrome (22q11.2DS) develop schizophrenia. Notably, a full-blown psychotic disorder is usually preceded by subthreshold symptoms. Therefore, it is important to identify early signs of psychosis in this population, a task that is complicated by the intellectual disabilities typically seen in 22q11.2DS. We aimed to identify subthreshold psychotic symptoms that distinguish 22q11.2DS from other neurodevelopmental disorders. The study included two independent cohorts from Tel Aviv and Philadelphia...
December 29, 2016: Schizophrenia Research
https://www.readbyqxmd.com/read/28025955/attention-allocation-to-facial-expressions-of-emotion-among-persons-with-williams-and-down-syndromes
#15
Karen J Goldman, Cory Shulman, Yair Bar-Haim, Rany Abend, Jacob A Burack
Individuals with Williams syndrome and those with Down syndrome are both characterized by heightened social interest, although the manifestation is not always similar. Using a dot-probe task, we examined one possible source of difference: allocation of attention to facial expressions of emotion. Thirteen individuals with Williams syndrome (mean age = 19.2 years, range = 10-28.6), 20 with Down syndrome (mean age = 18.8 years, range = 12.1-26.3), and 19 typically developing children participated. The groups were matched for mental age (mean = 5...
December 27, 2016: Development and Psychopathology
https://www.readbyqxmd.com/read/27965607/impaired-spatial-category-representations-in-williams-syndrome-an-investigation-of-the-mechanistic-contributions-of-non-verbal-cognition-and-spatial-language-performance
#16
Emily K Farran, Lauren Atkinson, Hannah Broadbent
The aims of this study were to: provide a precise characterisation of spatial category representations in Williams syndrome (WS); to determine the nature of the mechanistic contributions from spatial language performance and non-verbal cognition to spatial category representations in WS; and to explore the stability of spatial category representations in WS using error analysis. Spatial category representation was assessed across nine spatial categories (In, On, Under, In Front, Behind, Above, Below, Left, and Right) using an odd-one-out task...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27942468/isolated-macrocerebellum-description-of-six-cases-and-literature-review
#17
Felice D'Arco, Lorenzo Ugga, Ferdinando Caranci, Maria Pia Riccio, Chiara Figliuolo, Kshitij Mankad, Alessandra D'Amico
BACKGROUND: Macrocerebellum is a rare entity described as an isolated and abnormal increase of the cerebellum (CB) size without morphological or signal abnormalities. There have been only eleven patients with macrocerebellum reported in the literature so far. METHODS: From December 2011 to March 2014, among 950 paediatric patients that underwent a magnetic resonance scan of the brain in our department, in six subjects an abnormal increase of the cerebellar volume was suspected...
October 2016: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/27906503/neurodevelopmental-disorders
#18
REVIEW
Hana D'Souza, Annette Karmiloff-Smith
Recent technological advances allow us to measure how the infant brain functions in ways that were not possible just a decade ago. Although methodological advances are exciting, we must also consider how theories guide research: what we look for and how we explain what we find. Indeed, the ways in which research findings are interpreted affects the design of policies, educational practices, and interventions. Thus, the theoretical approaches adopted by scientists have a real impact on the lives of children with neurodevelopmental disorders (NDDs) and their families, as well as on the wider community...
January 2017: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27900816/sensorimotor-and-visual-perceptual-functioning-in-school-aged-children-with-williams-syndrome
#19
Y-P Wuang, H-Y Tsai
BACKGROUND: The purpose of the study was to describe sensorimotor profile and visual perceptual performance in school-aged (6-12 years) children with Williams syndrome (WS). The impacts of sensorimotor and visual perception on participation in WS were examined as well to guide research and evidence-based practices. METHODS: A total of 38 children with WS aged 6 to 12 years were evaluated with measures of motor performance (Bruininks-Oseretsky of Motor Proficiency-Second Edition), sensory processing (Sensory Profile), visual perceptual abilities (Test of Visual Perception Skills-Third Edition) and activity participation (Vineland Adaptive Behavior Scale, School Function Assessment)...
November 30, 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27876814/a-genome-wide-investigation-into-parent-of-origin-effects-in-autism-spectrum-disorder-identifies-previously-associated-genes-including-shank3
#20
Siobhan Connolly, Richard Anney, Louise Gallagher, Elizabeth A Heron
Autism spectrum disorder (ASD) is known to be a heritable neurodevelopmental disorder affecting more than 1% of the population but in the majority of ASD cases, the genetic cause has not been identified. Parent-of-origin effects have been highlighted as an important mechanism in the pathology of neurodevelopmental disorders such as Prader-Willi and Angelman syndrome, with individuals with these syndromes often exhibiting ASD symptoms. Consequently, systematic investigation of these effects in ASD is clearly an important line of investigation in elucidating the underlying genetic mechanisms...
February 2017: European Journal of Human Genetics: EJHG
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