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"williams syndrome"

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https://www.readbyqxmd.com/read/29028867/how-flexible-is-the-use-of-egocentric-versus-allocentric-frame-of-reference-in-the-williams-syndrome-population
#1
J Heiz, S Majerus, K Barisnikov
Objective: This study examined the spontaneous use of allocentric and egocentric frames of reference and their flexible use as a function of instructions. Method: The computerized spatial reference task created by Heiz and Barisnikov (2015) was used. Participants had to choose a frame of reference according to three types of instructions: spontaneous, allocentric and egocentric. The performances of 16 Williams Syndrome participants between 10 and 41 years were compared to those of two control groups (chronological age and non-verbal intellectual ability)...
September 28, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28990288/comparing-the-broad-socio-cognitive-profile-of-youth-with-williams-syndrome-and-22q11-2-deletion-syndrome
#2
O Weisman, R Feldman, M Burg-Malki, M Keren, R Geva, G Diesendruck, D Gothelf
BACKGROUND: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. METHODS: Eighty-two children participated in four study groups: WS (n = 18), 22q112.DS (n = 24), age-matched individuals with idiopathic developmental disability (IDD; n = 20) and typically developing (TD) controls (n = 20)...
October 8, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28983175/isolated-supravalvular-aortic-stenosis-with-left-ventricular-diverticulum-and-cleft-mitral-valve-surgical-repair-in-adulthood
#3
U M Nagamalesh, Ravi Shankar Shetty, Ravi Narayan, Anil Kumar, Ravi Naik, Sadath Uzma, K C Karthik Naidu
Supravalvular aortic stenosis is an uncommon but well characterized congenital narrowing of the ascending aorta above the level of the coronary arteries. It can be a familial disorder, can occur sporadically, or can be associated with Williams syndrome. We are reporting a very rare presentation of supravalvular aortic stenosis with associated left ventricular diverticulum and cleft mitral valve. Repair consisted of resection of the ascending aorta, patch augmentation of the aortic root, and mitral valve repair...
October 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28980100/brief-report-repetitive-behaviour-profiles-in-williams-syndrome-cross-syndrome-comparisons-with-prader-willi-and-down-syndromes
#4
R Royston, C Oliver, J Moss, D Adams, K Berg, C Burbidge, P Howlin, L Nelson, C Stinton, J Waite
This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome...
October 4, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28937452/use-and-effectiveness-of-sleep-medications-by-parent-report-in-individuals-with-williams-syndrome
#5
Marilee A Martens, Daisha L Seyfer, Rebecca R Andridge, Daniel L Coury
OBJECTIVE: Sleep disorders are common in individuals with Williams syndrome (WS), and sleep disturbance has a significant negative effect on attention, learning, and behavior. The use of sleep-inducing medicine in individuals with WS has not been widely investigated. The objective of this study was to evaluate the use and effectiveness of sleep medications among a large sample of individuals with WS by parent survey. METHODS: A survey of the use and effectiveness of sleep medications was completed by 513 (of 2846) members of the Williams Syndrome Association...
September 19, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#6
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28891719/understanding-strategic-information-use-during-emotional-expression-judgments-in-williams-syndrome
#7
Louise Ewing, Emily K Farran, Annette Karmiloff-Smith, Marie L Smith
Detailed analysis of expression judgments in Williams syndrome reveals that successful emotion categorization need not reflect "classic" information processing strategies. These individuals draw upon a distinct set of featural details to identify happy and fearful faces that differ from those used by typically developing comparison groups: children and adults. The diagnostic visual information is also notably less interlinked in Williams syndrome, consistent with reports of diminished processing of configural information during face identity judgments...
2017: Developmental Neuropsychology
https://www.readbyqxmd.com/read/28833838/syndrome-specific-modules-to-enhance-the-stepping-stones-triple-p-public-health-intervention
#8
L A Bezzina, L J Rice, P Howlin, B J Tonge, S L Einfeld
BACKGROUND: Service responses to behaviour phenotypes include care by expert clinicians, syndrome-specific clinics, disability-specific mental health services and generic mental health services. While these services contribute to care, they are often of limited accessibility. METHODS: We describe a population-wide public health intervention aimed at increasing the accessibility of services to the target population. Stepping Stones Triple P (SSTP) is a public health intervention of known efficacy in reducing behaviour problems when delivered to parents of children aged 0-12 with mixed developmental disabilities...
September 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28809068/false-belief-attribution-in-children-with-williams-syndrome-the-answer-is-in-the-emotion
#9
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...
November 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
#10
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
#11
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
#12
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...
September 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28748012/-association-between-williams-syndrome-and-adrenal-insufficiency
#13
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
#14
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...
September 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
November 2017: Cognition
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