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https://www.readbyqxmd.com/read/29375905/double-chambered-right-ventricle-in-a-16-year-old-patient-with-williams-syndrome
#1
Wojciech Mądry, Maciej A Karolczak, Ewa Zacharska-Kokot
We present a case of double-chambered right ventricle diagnosed during preparation for colonoscopy due to gastrointestinal bleeding in a 16-year-old, mentally disabled boy with Williams syndrome. The patient was previously diagnosed with ventricular septal defect and mild pulmonary stenosis. Echocardiography performed under general anesthesia revealed hypertrophied muscular bundles in the right ventricle with the maximum gradient of 100 mmHg, causing severe outflow obstruction. This type of defect is extremely rare in patients with Williams syndrome, with only one case, which was diagnosed during invasive angiocardiography, described in world literature...
December 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/29353707/attentional-rather-than-sensory-differences-characterize-auditory-processing-in-williams-syndrome
#2
Magdalene Jacobs, Elisabeth M Dykens, Alexandra P Key
Individuals with Williams Syndrome (WS) exhibit an atypical auditory profile. Across two experiments, we used event-related potentials (ERPs) in a three-stimulus auditory oddball task to examine early sensory (P1, N1, P2) and later cognitive (P3a, P3b) stages of cortical auditory processing in adults with WS and age-matched typical peers. In Study 1, piano chords served as standard, target, and novel stimuli; whereas, in Study 2, a variety of non-piano sounds comprised the novel stimuli. Across both experiments, there were no group differences in the earliest stages of sensory encoding (P1, N1), along with evidence for atypically large P2 responses in participants with WS...
January 16, 2018: Brain and Cognition
https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#3
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29305905/the-contribution-of-gtf2i-haploinsufficiency-to-williams-syndrome
#4
Thanathom Chailangkarn, Chalongrat Noree, Alysson R Muotri
Williams syndrome (WS) is a neurodevelopmental disorder involving hemideletion of as many as 26-28 genes, resulting in a constellation of unique physical, cognitive and behavior phenotypes. The haploinsufficiency effect of each gene has been studied and correlated with phenotype(s) using several models including WS subjects, animal models, and peripheral cell lines. However, links for most of the genes to WS phenotypes remains unclear. Among those genes, general transcription factor 2I (GTF2I) is of particular interest as its haploinsufficiency is possibly associated with hypersociability in WS...
January 3, 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29280247/learning-by-observation-and-learning-by-doing-in-down%C3%A2-and%C3%A2-williams%C3%A2-syndromes
#5
Francesca Foti, Deny Menghini, Paolo Alfieri, Floriana Costanzo, Laura Mandolesi, Laura Petrosini, Stefano Vicari
New skills may be learned by active experience (experiential learning or learning by doing) or by observation of others' experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome...
December 26, 2017: Developmental Science
https://www.readbyqxmd.com/read/29229231/associations-between-social-functioning-adhd-symptomatology-and-emotion-functioning-in-children-with-autism-spectrum-disorder-and-williams-syndrome
#6
Rowena Ng PhD, Ursula Bellugi EdD, Doris Trauner Md
No abstract text is available yet for this article.
November 6, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#7
Andrew John Kobalka, Robert E Mrak, William T Gunning
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT: A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29226900/diffuse-hypoplasia-of-the-aortic-arch-and-isthmus-in-a-patient-with-williams-syndrome
#8
İsmihan Selen Onan, Erkut Öztürk, Aylin Demirel Başgöze, Ayse Çicek, Burak Onan
Williams syndrome is a rare neurodevelopmental disorder characterized by mental retardation, growth deficiency, hypercalcemia, cardiac defects, and a distinctive facial appearance. Cardiovascular abnormalities are present in approximately 80% of Williams syndrome patients. Surgical treatment is generally performed for supravalvular aortic stenosis, aortic coarctation, pulmonary artery stenosis, or ventricular septal defect. In rare cases, diffuse hypoplasia of the aortic arch with a normal left ventricular outflow tract and ascending aorta may be diagnosed in early childhood...
December 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/29196666/sigma-frequency-dependent-motor-learning-in-williams-syndrome
#9
Andrea Berencsi, Róbert Bódizs, Ferenc Gombos, Szandra László, Ilona Kovács
There are two basic stages of fine motor learning: performance gain might occur during practice (online learning), and improvement might take place without any further practice (offline learning). Offline learning, also called consolidation, has a sleep-dependent stage in terms of both speed and accuracy of the learned movement. Sleep spindle or sigma band characteristics affect motor learning in typically developing individuals. Here we ask whether the earlier found, altered sigma activity in a neurodevelopmental disorder (Williams syndrome, WS) predicts motor learning...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29164439/brief-report-major-depressive-disorder-with-psychotic-features-in-williams-syndrome-a-case-series
#10
Francisca Valdes, Christopher J Keary, Jennifer E Mullett, Michelle L Palumbo, Jessica L Waxler, Barbara R Pober, Christopher J McDougle
Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously unreported adults with WS diagnosed with co-morbid MDD with psychotic features. Co-morbid medical disorders common in WS are highlighted with regard to safe and appropriate pharmacological treatment...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#11
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29127763/thyroid-evaluation-of-children-and-adolescents-with-williams-syndrome-in-zhejiang-province
#12
Wei-Jun Chen, Chai Ji, Dan Yao, Zheng-Yan Zhao
BACKGROUND: The objective of the study was to describe the prevalence of abnormal thyroid function and volume in children and adolescents with Williams syndrome (WS) in Zhejiang Province, China. METHODS: Thyroid function, including thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in 83 patients with WS, aged 0.2-16.5 years. Twenty-three patients were followed for an average of 1...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29124472/anxiety-in-williams-syndrome-the-role-of-social-behaviour-executive-functions-and-change-over-time
#13
Elise Ng-Cordell, Mary Hanley, Alyssa Kelly, Deborah M Riby
Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links between anxiety, social and EF were explored from concurrent parent-reports (N = 26). Results indicated that high anxiety persisted over time, and anxiety was related to impairments in both social and executive functioning...
November 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29113538/acquired-von-willebrand-syndrome-in-an-infant-with-coarctation-of-the-aorta-and-williams-syndrome
#14
Clinton D Cochran, Rohit S Madani, Daniel Peltier, Steven Pipe, Sonal T Owens
An infant with coarctation of the aorta and Williams syndrome was noted to have petechiae in cardiology clinic prior to planned surgical intervention. Workup revealed acquired von Willebrand syndrome secondary to the high shear force generated by the aortic coarctation. He was treated with intra- and postoperative Humate P; there were no postoperative bleeding complications. His acquired von Willebrand syndrome resolved postoperatively.
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29090517/increased-glia-density-in-the-caudate-nucleus-in-williams-syndrome-implications-for-frontostriatal-dysfunction-in-autism
#15
Kari L Hanson, Caroline H Lew, Branka Hrvoj-Mihic, Kimberly M Groeniger, Eric Halgren, Ursula Bellugi, Katerina Semendeferi
Williams syndrome (WS) is a rare neurodevelopmental disorder with a well-described, known genetic etiology. In contrast to Autism Spectrum Disorders (ASD), WS has a unique phenotype characterized by global reductions in IQ and visuospatial ability, with relatively preserved language function, enhanced reactivity to social stimuli and music, and an unusual eagerness to interact socially with strangers. A duplication of the deleted region in WS has been implicated in a subset of ASD cases, defining a spectrum of genetic and behavioral variation at this locus defined by these opposite extremes in social behavior...
November 1, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/29032288/addressing-social-skills-deficits-in-adults-with-williams-syndrome
#16
Marisa H Fisher, Lindsay Morin
BACKGROUND: Individuals with Williams syndrome (WS) are hypersocial; yet, they experience social difficulties and trouble with relationships. This report summarizes findings from three studies examining the social functioning of adults with WS and the feasibility of a social skills training program for adults with WS (SSTP-WS) through the examination of performance on initial lesson plans. METHOD: Study 1: 114 parents of adults with WS completed the Social Responsiveness Scale-2...
October 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#17
Emily A Abel, Bridgette L Tonnsen
BACKGROUND: Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29028867/how-flexible-is-the-use-of-egocentric-versus-allocentric-frame-of-reference-in-the-williams-syndrome-population
#18
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
#19
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)...
December 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
#20
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
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