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https://www.readbyqxmd.com/read/28710800/dissociation-of-spatial-memory-systems-in-williams-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
(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
#12
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
https://www.readbyqxmd.com/read/28424317/the-williams-syndrome-prosociality-gene-gtf2i-mediates-oxytocin-reactivity-and-social-anxiety-in-a-healthy-population
#13
Tanya L Procyshyn, Jason Spence, Silven Read, Neil V Watson, Bernard J Crespi
The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I (general transcription factor II-I), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity...
April 2017: Biology Letters
https://www.readbyqxmd.com/read/28424273/certainty-of-genuine-treatment-increases-drug-responses-among-intellectually-disabled-patients
#14
Karin B Jensen, Irving Kirsch, Moa Pontén, Annelie Rosén, Kathy Yang, Randy L Gollub, Vincent des Portes, Ted J Kaptchuk, Aurore Curie
OBJECTIVE: To determine the placebo component of treatment responses in patients with intellectual disability (ID). METHODS: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered...
May 16, 2017: Neurology
https://www.readbyqxmd.com/read/28393740/precursors-to-language-development-in-typically-and-atypically-developing-infants-and-toddlers-the-importance-of-embracing-complexity
#15
Dean D'Souza, Hana D'Souza, Annette Karmiloff-Smith
In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms, processes, and abilities (e.g. statistical learning, sampling, functional specialization, visual attention, social interaction, motor ability). We also present evidence from our studies on neurodevelopmental disorders (e...
April 10, 2017: Journal of Child Language
https://www.readbyqxmd.com/read/28382779/peri-procedural-risk-stratification-and-management-of-patients-with-williams-syndrome
#16
REVIEW
R Thomas Collins Ii, Margaret G Collins, Michael L Schmitz, Justin T Hamrick
Williams syndrome (WS) is a congenital, multisystem disorder affecting the cardiovascular, connective tissue, and central nervous systems in 1 in 10 000 live births. Cardiovascular involvement is the most common cause of morbidity and mortality in patients with WS, and noninvasive and invasive procedures are common. Sudden cardiovascular collapse in patients with WS is a well-known phenomenon, especially in the peri-procedural period. Detailed guidelines for peri-procedural management of patients with WS are limited...
March 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28371210/the-proceedings-of-the-15th-professional-conference-on-williams-syndrome
#17
Jennifer R Walton, Marilee A Martens, Barbara R Pober
Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28369850/an-mri-study-of-the-corpus-callosum-in-monkeys-developmental-trajectories-and-effects-of-neonatal-hippocampal-and-amygdala-lesions
#18
Christa Payne, Laetitia Cirilli, Jocelyne Bachevalier
This study provides the first characterization of early developmental trajectories of corpus callosum (CC) segments in rhesus macaques using noninvasive MRI techniques and assesses long-term effects of neonatal amygdala or hippocampal lesions on CC morphometry. In Experiment 1, 10 monkeys (5 males) were scanned at 1 week-2 years of age; eight additional infants (4 males) were scanned once at 1-4 weeks of age. The first 8 months showed marked growth across all segments, with sustained, albeit slower, growth through 24 months...
May 2017: Developmental Psychobiology
https://www.readbyqxmd.com/read/28362900/the-davida-teller-award-lecture-2016-visual-brain-development-a-review-of-dorsal-stream-vulnerability-motion-mathematics-amblyopia-actions-and-attention
#19
REVIEW
Janette Atkinson
Research in the Visual Development Unit on "dorsal stream vulnerability' (DSV) arose from research in two somewhat different areas. In the first, using cortical milestones for local and global processing from our neurobiological model, we identified cerebral visual impairment in infants in the first year of life. In the second, using photo/videorefraction in population refractive screening programs, we showed that infant spectacle wear could reduce the incidence of strabismus and amblyopia, but many preschool children, who had been significantly hyperopic earlier, showed visuo-motor and attentional deficits...
March 1, 2017: Journal of Vision
https://www.readbyqxmd.com/read/28360987/a-diagnosis-to-consider-in-an-adult-patient-with-facial-features-and-intellectual-disability-williams-syndrome
#20
Özlem Akgün Doğan, Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years...
March 2017: Korean Journal of Family Medicine
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