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https://www.readbyqxmd.com/read/28229087/modeling-williams-syndrome-with-induced-pluripotent-stem-cells
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27795743/typical-visual-search-performance-and-atypical-gaze-behaviors-in-response-to-faces-in-williams-syndrome
#14
Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi, Miho Nakamura
BACKGROUND: Evidence indicates that individuals with Williams syndrome (WS) exhibit atypical attentional characteristics when viewing faces. However, the dynamics of visual attention captured by faces remain unclear, especially when explicit attentional forces are present. To clarify this, we introduced a visual search paradigm and assessed how the relative strength of visual attention captured by a face and explicit attentional control changes as search progresses. METHODS: Participants (WS and controls) searched for a target (butterfly) within an array of distractors, which sometimes contained an upright face...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27771473/williams-syndrome-and-mature-b-leukemia-a-random-association
#15
Valentina Decimi, Grazia Fazio, Fabiola Dell'Acqua, Silvia Maitz, Marta Galbiati, Carmelo Rizzari, Andrea Biondi, Giovanni Cazzaniga, Angelo Selicorni
Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years)...
December 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27718424/anxiety-and-autonomic-response-to-social-affective-stimuli-in-individuals-with-williams-syndrome
#16
Rowena Ng, Ursula Bellugi, Anna Järvinen
BACKGROUND: Williams syndrome (WS) is a genetic condition characterized by an unusual "hypersocial" personality juxtaposed by high anxiety. Recent evidence suggests that autonomic reactivity to affective face stimuli is disorganised in WS, which may contribute to emotion dysregulation and/or social disinhibition. METHODS: Electrodermal activity (EDA) and mean interbeat interval (IBI) of 25 participants with WS (19 - 57 years old) and 16 typically developing (TD; 17-43 years old) adults were measured during a passive presentation of affective face and voice stimuli...
December 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27696186/anxiety-disorders-in-williams-syndrome-contrasted-with-intellectual-disability-and-the-general-population-a-systematic-review-and-meta-analysis
#17
R Royston, P Howlin, J Waite, C Oliver
Individuals with specific genetic syndromes associated with intellectual disability (ID), such as Williams syndrome (WS), are at increased risk for developing anxiety disorders. A systematic literature review identified sixteen WS papers that could generate pooled prevalence estimates of anxiety disorders for WS. A meta-analysis compared these estimates with prevalence estimates for the heterogeneous ID population and the general population. Estimated rates of anxiety disorders in WS were high. WS individuals were four times more likely to experience anxiety than individuals with ID, and the risk was also heightened compared to the general population...
September 30, 2016: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/27692871/disparities-in-visuo-spatial-constructive-abilities-in-williams-syndrome-patients-with-typical-deletion-on-chromosome-7q11-23
#18
Yukako Muramatsu, Yoshihito Tokita, Seiji Mizuno, Miho Nakamura
BACKGROUND: Williams syndrome (WS) is known for its uneven cognitive abilities, especially the difficulty in visuo-spatial cognition, though there are some inter-individual phenotypic differences. It has been proposed that the difficulty in visuo-spatial cognition of WS patients can be attributed to a haploinsufficiency of some genes located on the deleted region in 7q11.23, based on an examination of atypical deletions identified in WS patients with atypical cognitive deficits. According to this hypothesis, the inter-individual differences in visuo-spatial cognitive ability arise from variations in deletion...
February 2017: Brain & Development
https://www.readbyqxmd.com/read/27634746/route-learning-strategies-in-typical-and-atypical-development-eye-tracking-reveals-atypical-landmark-selection-in-williams-syndrome
#19
E K Farran, S Formby, F Daniyal, T Holmes, J Van Herwegen
BACKGROUND: Successful navigation is crucial to everyday life. Individuals with Williams syndrome (WS) have impaired spatial abilities. This includes a deficit in spatial navigation abilities such as learning the route from A to B. To-date, to determine whether participants attend to landmarks when learning a route, landmark recall tasks have been employed after the route learning experience. Here, we combined virtual reality and eye tracking technologies, for the first time, to measure landmark use in typically developing (TD) children and participants with WS during route-learning...
October 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27634745/editorial-special-edition-on-williams-syndrome
#20
EDITORIAL
Deborah M Riby, Melanie A Porter
No abstract text is available yet for this article.
October 2016: Journal of Intellectual Disability Research: JIDR
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