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https://www.readbyqxmd.com/read/28809068/false-belief-attribution-in-children-with-williams-syndrome-the-answer-is-in-the-emotion
#1
R Campos, P Martínez-Castilla, M Sotillo
BACKGROUND: Individuals with Williams syndrome (WS) show difficulties in attributing false beliefs, whereas they are better at attributing emotions. This study examines whether being asked about the emotion linked to a false belief, instead of explicitly about the belief, facilitates performance on theory of mind (ToM) tasks. METHOD: Thirty children with WS and 90 typically developing children, who were individually matched on mental age (50-112 months), were administered six explicit (i...
August 15, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28792178/isolated-supravalular-aortic-stenosis-with-infective-endocarditis-presenting-as-pyrexia-of-unknown-origin
#2
Deepak Kumar Mishra, Vishal Khullar, Shalima Gautam, Tamanna Khullar
Supravalvular aortic stenosis is a less common form of left ventricular outflow tract obstruction (LVOTO); commonest being the valvular aortic stenosis followed by valvular and subvalvular forms respectively. Most of the supravalvular aortic stenosis is associated with Williams syndrome; isolated supravalvular aortic stenosis is further rarer. We present a case of isolated SVAS with infective endocarditis (1.6) as the cause of pyrexia of unknown origin (PUO).
July 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28779989/biomechanical-description-of-phonation-in-children-affected-by-williams-syndrome
#3
Irene Hidalgo de la Guía, Pedro Gómez Vilda, Elena Garayzábal Heinze
The voice of persons with Williams syndrome (WS) is described as hoarse with a deep and unstable fundamental frequency (f0). These observations may be justified by the deficit of elastin due to a haplo-insufficiency in the ELN gene characteristic of the syndrome. In view of the possible relationship between elastin deficit and dysphonia, a study of the dynamic function of WS phonation was conducted by means of biomechanical analysis. In order to assess the presence of dysphonic symptoms and their degree of severity, the biomechanical description of WS phonation has been evaluated in terms of dynamic mass and viscoelasticity estimates...
August 2, 2017: Journal of Voice: Official Journal of the Voice Foundation
https://www.readbyqxmd.com/read/28751568/mtor-mechanistic-target-of-rapamycin-inhibition-decreases-mechanosignaling-collagen-accumulation-and-stiffening-of-the-thoracic-aorta-in-elastin-deficient-mice
#4
Yang Jiao, Guangxin Li, Qingle Li, Rahmat Ali, Lingfeng Qin, Wei Li, Yibing Qyang, Daniel M Greif, Arnar Geirsson, Jay D Humphrey, George Tellides
OBJECTIVE: Elastin deficiency because of heterozygous loss of an ELN allele in Williams syndrome causes obstructive aortopathy characterized by medial thickening and fibrosis and consequent aortic stiffening. Previous work in Eln-null mice with a severe arterial phenotype showed that inhibition of mTOR (mechanistic target of rapamycin), a key regulator of cell growth, lessened the aortic obstruction but did not prevent early postnatal death. We investigated the effects of mTOR inhibition in Eln-null mice partially rescued by human ELN that manifest a less severe arterial phenotype and survive long term...
July 27, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28748012/-association-between-williams-syndrome-and-adrenal-insufficiency
#5
Meryem Rchachi, Maazou Mahamane Larwanou, Hanan El Ouahabi, Farida Ajdi
Williams syndrome is a developmental disorder including dysmorphia, cardiovascular malformations and a specific neuropsychological profile together with other associated disorders. We report the case of a 17-year old girl, born of a non-inbred marriage, with Williams syndrome discovered during an assessment of degree of failure to thrive. Its association with primary adrenal insufficiency makes it unique. Diagnosis is confirmed by cytogenetic and molecular analysis. Its management consists of the implementation of treatment for adrenal insufficiency associated with a clinico-biological monitoring...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28745018/a-comparison-between-linguistic-skills-and-socio-communicative-abilities-in-williams-syndrome
#6
P Alfieri, D Menghini, L Marotta, L De Peppo, L Ravà, F Salvaguardia, C Varuzza, S Vicari
BACKGROUND: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. AIM: The aim of the present study was to investigate whether linguistic skills (LS) were in line with the pragmatic and social use of language and the cognitive development of 32 individuals with WS (18 boys and 14 girls) with a mean chronological age of 12...
July 26, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28738222/thinking-inside-the-box-spatial-frames-of-reference-for-drawing-in-williams-syndrome-and-typical-development
#7
Kerry D Hudson, Emily K Farran
BACKGROUND: Successfully completing a drawing relies on the ability to accurately impose and manipulate spatial frames of reference for the object that is being drawn and for the drawing space. Typically developing (TD) children use cues such as the page boundary as a frame of reference to guide the orientation of drawn lines. Individuals with Williams syndrome (WS) typically produce incohesive drawings; this is proposed to reflect a local processing bias. AIMS: Across two studies, we provide the first investigation of the effect of using a frame of reference when drawing simple lines and shapes in WS and TD groups (matched for non-verbal ability)...
July 21, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28733679/increased-overall-cortical-connectivity-with-syndrome-specific-local-decreases-suggested-by-atypical-sleep-eeg-synchronization-in-williams-syndrome
#8
Ferenc Gombos, Róbert Bódizs, Ilona Kovács
Williams syndrome (7q11.23 microdeletion) is characterized by specific alterations in neurocognitive architecture and functioning, as well as disordered sleep. Here we analyze the region, sleep state and frequency-specific EEG synchronization of whole night sleep recordings of 21 Williams syndrome and 21 typically developing age- and gender-matched subjects by calculating weighted phase lag indexes. We found broadband increases in inter- and intrahemispheric neural connectivity for both NREM and REM sleep EEG of Williams syndrome subjects...
July 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28710800/dissociation-of-spatial-memory-systems-in-williams-syndrome
#9
Mathilde Bostelmann, Emilie Fragnière, Floriana Costanzo, Silvia Di Vara, Deny Menghini, Stefano Vicari, Pierre Lavenex, Pamela Banta Lavenex
Williams syndrome (WS), a genetic deletion syndrome, is characterized by severe visuospatial deficits affecting performance on both tabletop spatial tasks and on tasks which assess orientation and navigation. Nevertheless, previous studies of WS spatial capacities have ignored the fact that two different spatial memory systems are believed to contribute parallel spatial representations supporting navigation. The place learning system depends on the hippocampal formation and creates flexible relational representations of the environment, also known as cognitive maps...
July 15, 2017: Hippocampus
https://www.readbyqxmd.com/read/28691460/the-%C3%A2-elfin-face%C3%A2-craniofacial-and-dental-aspects-of-the-williams-beuren-syndrome
#10
V Maurino, L Azzi, R Vinci, F Croveri, A Boggio, J Silvestre-Rangil, L Tettamanti, A Tagliabue
Williams Syndrome is a rare congenital disorder characterized by supravalvular aortic stenosis, peripheral pulmonary artery stenosis, mental retard and dysmorfic facial features. As regards the dental aspects of the syndrome, the deletion of the elastin gene induced clinicians to suspect periodontal alterations with a greater frequency of gingivo-periodontitis, but on the contrary no association between the syndrome and periodontal diseases have been found. Furthermore, patients show a higher frequency of teeth hypoplasia, an abnormal tooth morphology during primary dentition (12...
April 2017: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28685402/abnormalities-in-early-visual-processes-are-linked-to-hypersociability-and-atypical-evaluation-of-facial-trustworthiness-an-erp-study-with-williams-syndrome
#11
Danielle M Shore, Rowena Ng, Ursula Bellugi, Debra L Mills
Accurate assessment of trustworthiness is fundamental to successful and adaptive social behavior. Initially, people assess trustworthiness from facial appearance alone. These assessments then inform critical approach or avoid decisions. Individuals with Williams syndrome (WS) exhibit a heightened social drive, especially toward strangers. This study investigated the temporal dynamics of facial trustworthiness evaluation in neurotypic adults (TD) and individuals with WS. We examined whether differences in neural activity during trustworthiness evaluation may explain increased approach motivation in WS compared to TD individuals...
July 6, 2017: Cognitive, Affective & Behavioral Neuroscience
https://www.readbyqxmd.com/read/28683351/dissociating-intuitive-physics-from-intuitive-psychology-evidence-from-williams-syndrome
#12
Frederik S Kamps, Joshua B Julian, Peter Battaglia, Barbara Landau, Nancy Kanwisher, Daniel D Dilks
Prior work suggests that our understanding of how things work ("intuitive physics") and how people work ("intuitive psychology") are distinct domains of human cognition. Here we directly test the dissociability of these two domains by investigating knowledge of intuitive physics and intuitive psychology in adults with Williams syndrome (WS) - a genetic developmental disorder characterized by severely impaired spatial cognition, but relatively spared social cognition. WS adults and mental-age matched (MA) controls completed an intuitive physics task and an intuitive psychology task...
July 3, 2017: Cognition
https://www.readbyqxmd.com/read/28668215/-social-cognition-in-children-with-neurogenetic-syndromes-a-literature-review
#13
A Morel, C Demily
Social cognitive impairments may largely contribute to reduced social skills and adaptive problems in individuals with microdeletion syndromes associated with behavioral and psychiatric phenotypes. Understanding the role of social information processing deficits in the emergence of psychotic disorders is a crucial challenge in the management of these patients. Each neurogenetic disorder is characterized by a specific social cognition phenotype. Clarifying the social ability profile of each population may help adjust patient care according to their key strengths and weaknesses...
June 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28612476/association-between-speech-language-general-cognitive-functioning-and-behaviour-problems-in-individuals-with-williams-syndrome
#14
N F Rossi, C M Giacheti
BACKGROUND: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. METHODS: The study's participants were 26 individuals with WS and their parents. General cognitive functioning was assessed with the Wechsler Intelligence Scale...
July 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28610873/williams-syndrome-transcription-factor-wstf-acts-as-an-activator-of-estrogen-receptor-signaling-in-breast-cancer-cells-and-the-effect-can-be-abrogated-by-1%C3%AE-25-dihydroxyvitamin-d3
#15
Johan Lundqvist, Tove Kirkegaard, Anne-Vibeke Laenkholm, Anne Katrine Duun-Henriksen, Martin Bak, David Feldman, Anne E Lykkesfeldt
A majority of estrogen receptor positive (ER+) breast cancers are growth stimulated by estrogens. The ability to inhibit the ER signaling pathway is therefore of critical importance in the current treatment of ER+ breast cancers. It has been reported that 1α,25-dihydroxyvitamin D3 down-regulates the expression of the CYP19A1 gene, encoding the aromatase enzyme that catalyzes the synthesis of estradiol. Furthermore, 1α,25-dihydroxyvitamin D3 has also been reported to down-regulate the expression of estrogen receptor α (ERα), the main mediator of ER signaling...
June 10, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28589405/drug-coated-balloon-angioplasty-a-novel-treatment-for-pulmonary-artery-in-stent-stenosis-in-a-patient-with-williams-syndrome
#16
Jennifer L Cohen, Julie S Glickstein, Matthew A Crystal
A 20-month-old boy with Williams syndrome had undergone multiple surgical and catheter-based interventions for resistant peripheral pulmonary arterial stenoses with eventual bilateral stent placement and conventional balloon angioplasty. He persistently developed suprasystemic right ventricular (RV) pressure. Angioplasty with a drug-coated balloon (DCB) was performed for in-stent restenosis and to remodel his distal pulmonary vessels bilaterally. This resulted in immediate improvement in the in-stent stenosis and resultant decrease in RV pressure...
June 7, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28560159/williams-syndrome-specific-neuroanatomical-profile-and-its-associations-with-behavioral-features
#17
Chun Chieh Fan, Timothy T Brown, Hauke Bartsch, Joshua M Kuperman, Donald J Hagler, Andrew Schork, Yvonne Searcy, Ursula Bellugi, Eric Halgren, Anders M Dale
Williams Syndrome (WS) is a rare genetic disorder with unique behavioral features. Yet the rareness of WS has limited the number and type of studies that can be conducted in which inferences are made about how neuroanatomical abnormalities mediate behaviors. In this study, we extracted a WS-specific neuroanatomical profile from structural magnetic resonance imaging (MRI) measurements and tested its association with behavioral features of WS. Using a WS adult cohort (22 WS, 16 healthy controls), we modeled a sparse representation of a WS-specific neuroanatomical profile...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28499504/williams-syndrome-deletions-and-duplications-genetic-windows-to-understanding-anxiety-sociality-autism-and-schizophrenia
#18
REVIEW
Bernard J Crespi, Tanya L Procyshyn
We describe and evaluate an integrative hypothesis for helping to explain the major neurocognitive features of individuals with Williams syndrome region deletions and duplications. First, we demonstrate how the cognitive differences between Williams syndrome individuals, individuals with duplications of this region, and healthy individuals parallel the differences between individuals subject to effects of increased or decreased oxytocin. Second, we synthesize evidence showing that variation in expression of the gene GTF2I (General Transcription Factor II-I) underlies the primary social phenotypes of Williams syndrome and that common genetic variation in GTF2I mediates oxytocin reactivity, and its correlates, in healthy populations...
August 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28481960/correction-an-event-related-potential-study-of-inhibitory-and-attentional-control-in-williams-syndrome-adults
#19
(no author information available yet)
[This corrects the article DOI: 10.1371/journal.pone.0170180.].
2017: PloS One
https://www.readbyqxmd.com/read/28468204/ameloblastoma-in-a-patient-with-williams-syndrome-and-use-of-fibular-flap
#20
Fatma Betul Tuncer, Bulent Sacak, Zeynep Deniz Akdeniz, Ozhan Celebiler
No abstract text is available yet for this article.
May 2017: Journal of Craniofacial Surgery
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