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"williams syndrome"

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https://www.readbyqxmd.com/read/28499504/williams-syndrome-deletions-and-duplications-genetic-windows-to-understanding-anxiety-sociality-autism-and-schizophrenia
#1
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...
May 10, 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
#2
(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
#3
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
#4
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
#5
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...
April 19, 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28349363/social-attention-joint-attention-and-sustained-attention-in-autism-spectrum-disorder-and-williams-syndrome-convergences-and-divergences
#12
Giacomo Vivanti, Peter A J Fanning, Darren R Hocking, Stephanie Sievers, Cheryl Dissanayake
There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children with ASD and those with WS presented with overlapping deficits in spontaneous visual engagement with the target of others' attention and in sustained attention. Children with ASD showed syndrome-specific abnormalities in monitoring and following a person's referential gaze, as well as a lack of preferential attention to social stimuli...
March 27, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28332295/advanced-cardiovascular-imaging-in-williams-syndrome-abnormalities-usefulness-and-strategy-for-use
#13
Jordan A Hills, Yuri A Zarate, Noelle R Danylchuk, Tiffany Lepard, Jean Chi-Jen Chen, Ronnie Thomas Collins
Extracardiac arterial stenoses are not uncommon in Williams syndrome (WS); however, data on the utility of advanced cardiovascular imaging (CVI) to assess these stenoses are lacking. We retrospectively reviewed the frequency, indication, and diagnostic outcomes of CVI modalities performed in patients with WS evaluated at a single institution between 2001 and 2014. Data were collected and analyzed from 34 patients (56% female) who underwent CVI during the study period. The median age was 10 years (range 1.8-33 years)...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28287063/fatal-severe-coronary-artery-stenosis-in-williams-syndrome-decision-making-using-late-gadolinium-enhancement-cardiovascular-mri
#14
Inga Voges, Rodney C Franklin, Ricardo Wage, Sonya V Babu-Narayan
Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.
March 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28277153/delineation-of-a-spatial-working-memory-profile-using-a-non-verbal-eye-tracking-paradigm-in-young-children-with-autism-and-williams-syndrome
#15
Peter A J Fanning, Darren R Hocking, Cheryl Dissanayake, Giacomo Vivanti
Working memory deficits profoundly inhibit children's ability to learn. While deficits have been identified in disorders such as autism spectrum disorder (ASD) and Williams syndrome (WS), findings are equivocal, and very little is known about the nature of these deficits early in development. A major barrier to advances in this area is the availability of tasks suitable for young children with neurodevelopmental disorders who experience difficulties with following verbal instructions or who are distressed by formal testing demands...
February 9, 2017: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://www.readbyqxmd.com/read/28271572/problem-behaviour-and-psychosocial-functioning-in-young-children-with-williams-syndrome-parent-and-teacher-perspectives
#16
B P Klein-Tasman, K Lee
BACKGROUND: There is sparse literature about problem behaviour in young children with Williams syndrome (WS) and little consideration of the perspectives of multiple respondents. METHODS: Problem behaviour of 35 children with WS ages 2 to 6 was examined based on both parent and teacher report using the Achenbach preschool forms. RESULTS: The most prominent areas of difficulty based on both parent and teacher report were attention problems, pervasive developmental problems and emotion reactivity difficulties...
March 7, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28270868/preserved-search-asymmetry-in-the-detection-of-fearful-faces-among-neutral-faces-in-individuals-with-williams-syndrome-revealed-by-measurement-of-both-manual-responses-and-eye-tracking
#17
Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi, Miho Nakamura
BACKGROUND: Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes fear-related information. However, evidence is lacking regarding the detection mechanisms of fearful faces for individuals with WS. Here, we introduce a visual search paradigm to elucidate the mechanisms for detecting fearful faces by evaluating the search asymmetry; the reaction time when both the target and distractors were swapped was asymmetrical...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28257245/behavioral-profiles-of-children-with-williams-syndrome-from-spain-and-the-united-states-cross-cultural-similarities-and-differences
#18
Débora Pérez-García, Carme Brun-Gasca, Luis A Pérez-Jurado, Carolyn B Mervis
To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than the American sample for all of the higher-order factors and half of both the empirically based and Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales...
March 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/28254817/deficient-circumferential-growth-is-the-primary-determinant-of-aortic-obstruction-attributable-to-partial-elastin-deficiency
#19
Yang Jiao, Guangxin Li, Arina Korneva, Alexander W Caulk, Lingfeng Qin, Matthew R Bersi, Qingle Li, Wei Li, Robert P Mecham, Jay D Humphrey, George Tellides
OBJECTIVE: Williams syndrome is characterized by obstructive aortopathy attributable to heterozygous loss of ELN, the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent medial expansion, although an initially smaller caliber and increased stiffness of the aorta may contribute to luminal narrowing. The relative contributions of such abnormalities to the obstructive phenotype had not been defined. APPROACH AND RESULTS: We quantified determinants of luminal stenosis in thoracic aortas of Eln(-/-) mice incompletely rescued by human ELN...
May 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28254647/altered-body-composition-lipedema-and-decreased-bone-density-in-individuals-with-williams-syndrome-a-preliminary-report
#20
Jessica L Waxler, Cara Guardino, Richard S Feinn, Hang Lee, Barbara R Pober, Takara L Stanley
No abstract text is available yet for this article.
May 2017: European Journal of Medical Genetics
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