keyword
MENU ▼
Read by QxMD icon Read
search

"williams syndrome"

keyword
https://www.readbyqxmd.com/read/27906503/neurodevelopmental-disorders
#1
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...
December 1, 2016: Wiley Interdisciplinary Reviews. Cognitive Science
https://www.readbyqxmd.com/read/27900816/sensorimotor-and-visual-perceptual-functioning-in-school-aged-children-with-williams-syndrome
#2
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
#3
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...
November 23, 2016: 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
#4
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
#5
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
#6
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...
October 5, 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
#7
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
#8
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...
September 29, 2016: 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
#9
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
#10
EDITORIAL
Deborah M Riby, Melanie A Porter
No abstract text is available yet for this article.
October 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27610215/social-affiliation-motives-modulate-spontaneous-learning-in-williams-syndrome-but-not-in-autism
#11
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
BACKGROUND: Children with autism spectrum disorder (ASD) and those with Williams syndrome (WS) have difficulties with learning, though the nature of these remains unclear. METHODS: In this study, we used novel eye-tracking and behavioral paradigms to measure how 36 preschoolers with ASD and 21 age- and IQ-matched peers with WS attend to and learn novel behaviors (1) from the outcomes of their own actions (non-social learning), (2) through imitation of others' actions (social learning), and across situations in which imitative learning served either an instrumental function or fulfilled social affiliation motives...
2016: Molecular Autism
https://www.readbyqxmd.com/read/27546029/developmental-trajectories-of-structural-and-pragmatic-language-skills-in-school-aged-children-with-williams-syndrome
#12
E Van Den Heuvel, E Manders, A Swillen, I Zink
BACKGROUND: This study aimed to compare developmental courses of structural and pragmatic language skills in school-aged children with Williams syndrome (WS) and children with idiopathic intellectual disability (IID). Comparison of these language trajectories could highlight syndrome-specific developmental features. METHOD: Twelve monolingual Dutch-speaking children with WS aged 5.10 to 13.3 years were assessed by means of standardised structural language tests measuring receptive and expressive vocabulary and sentence comprehension and production...
October 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27545961/visual-motor-integration-visual-perception-and-motor-coordination-in-a-population-with-williams-syndrome-and-in-typically-developing-children
#13
J Heiz, K Barisnikov
BACKGROUND: Williams syndrome (WS) is characterised by severe deficits in visual-spatial abilities in contrast to relatively well-developed language abilities. There is very limited knowledge about visual-motor integration (VMI) in people with WS. METHOD: Twenty-six participants with WS aged 6 to 41 years were assessed with all three tests of the Beery-VMI test, namely the VMI test, the visual perception test (VP) and the motor coordination test (MC). Their results were compared with those of 154 typically developing children (TD) aged 4 to 12...
October 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27545817/predictors-of-specific-phobia-in-children-with-williams-syndrome
#14
C H Pitts, B P Klein-Tasman, J W Osborne, C B Mervis
BACKGROUND: Specific phobia (SP) is the most common anxiety disorder among children with Williams syndrome (WS); prevalence rates derived from Diagnostic and Statistical Manual of Mental Disorders-based diagnostic interviews range from 37% to 56%. We evaluated the effects of gender, age, intellectual abilities and/or behaviour regulation difficulties on the likelihood that a child with WS would be diagnosed with SP. METHODS: A total of 194 6-17 year-olds with WS were evaluated...
October 2016: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/27531986/social-cognition-in-williams-syndrome-face-tuning
#15
Marina A Pavlova, Julie Heiz, Alexander N Sokolov, Koviljka Barisnikov
Many neurological, neurodevelopmental, neuropsychiatric, and psychosomatic disorders are characterized by impairments in visual social cognition, body language reading, and facial assessment of a social counterpart. Yet a wealth of research indicates that individuals with Williams syndrome exhibit remarkable concern for social stimuli and face fascination. Here individuals with Williams syndrome were presented with a set of Face-n-Food images composed of food ingredients and in different degree resembling a face (slightly bordering on the Giuseppe Arcimboldo style)...
2016: Frontiers in Psychology
https://www.readbyqxmd.com/read/27525043/genome-wide-array-cgh-and-qpcr-analysis-for-the-identification-of-genome-defects-in-williams-syndrome-patients-in-saudi-arabia
#16
I R Hussein, A Magbooli, E Huwait, A Chaudhary, R Bader, M Gari, F Ashgan, M Alquaiti, A Abuzenadah, M AlQahtani
BACKGROUND: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the long arm of chromosome 7q11.23. We aimed to apply array-CGH technique for the detection of copy number variants in suspected WBS patients and to determine the size of the deleted segment at chromosome 7q11...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27524298/neurocognitive-profile-in-psychotic-versus-nonpsychotic-individuals-with-22q11-2-deletion-syndrome
#17
Ronnie Weinberger, James Yi, Monica Calkins, Yael Guri, Donna M McDonald-McGinn, Beverly S Emanuel, Elaine H Zackai, Kosha Ruparel, Miri Carmel, Elena Michaelovsky, Abraham Weizman, Ruben C Gur, Raquel E Gur, Doron Gothelf
The 22q11.2 deletion syndrome (22q11DS) is associated with increased rates of psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate their interaction. The objective of this two-center study was to identify the neurocognitive phenotype of individuals with 22q11DS and psychotic disorders. We hypothesized that psychotic 22q11DS individuals compared to nonpsychotic deleted individuals would have more severe neurocognitive deficits, especially in executive function and social cognition...
October 2016: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/27521717/cross-syndrome-comparison-of-real-world-executive-functioning-and-problem-solving-using-a-new-problem-solving-questionnaire
#18
Joanne S Camp, Annette Karmiloff-Smith, Michael S C Thomas, Emily K Farran
BACKGROUND: Individuals with neurodevelopmental disorders like Williams syndrome and Down syndrome exhibit executive function impairments on experimental tasks (Lanfranchi, Jerman, Dal Pont, Alberti, & Vianello, 2010; Menghini, Addona, Costanzo, & Vicari, 2010), but the way that they use executive functioning for problem solving in everyday life has not hitherto been explored. The study aim is to understand cross-syndrome characteristics of everyday executive functioning and problem solving...
August 10, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27520580/neuron-density-is-decreased-in-the-prefrontal-cortex-in-williams-syndrome
#19
Caroline Horton Lew, Chelsea Brown, Ursula Bellugi, Katerina Semendeferi
Williams Syndrome (WS) is a rare neurodevelopmental disorder associated with a hemideletion in chromosome 7, which manifests a distinct behavioral phenotype characterized by a hyperaffiliative social drive, in striking contrast to the social avoidance behaviors that are common in Autism Spectrum Disorder (ASD). MRI studies have observed structural and functional abnormalities in WS cortex, including the prefrontal cortex (PFC), a region implicated in social cognition. This study utilizes the Bellugi Williams Syndrome Brain Collection, a unique resource that comprises the largest WS postmortem brain collection in existence, and is the first to quantitatively examine WS PFC cytoarchitecture...
August 13, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27509850/a-human-neurodevelopmental-model-for-williams-syndrome
#20
Thanathom Chailangkarn, Cleber A Trujillo, Beatriz C Freitas, Branka Hrvoj-Mihic, Roberto H Herai, Diana X Yu, Timothy T Brown, Maria C Marchetto, Cedric Bardy, Lauren McHenry, Lisa Stefanacci, Anna Järvinen, Yvonne M Searcy, Michelle DeWitt, Wenny Wong, Philip Lai, M Colin Ard, Kari L Hanson, Sarah Romero, Bob Jacobs, Anders M Dale, Li Dai, Julie R Korenberg, Fred H Gage, Ursula Bellugi, Eric Halgren, Katerina Semendeferi, Alysson R Muotri
Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells...
August 18, 2016: Nature
keyword
keyword
92220
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"