Inefficient Search of Large-Scale Space in Williams Syndrome: Further Insights on the Role of LIMK1 Deletion in Deficits of Spatial Cognition

Perception ◽  
10.1068/p6050 ◽  
2009 ◽  
Vol 38 (5) ◽  
pp. 694-701 ◽  
Author(s):  
Alastair D Smith ◽  
Iain D Gilchrist ◽  
Bruce Hood ◽  
May Tassabehji ◽  
Annette Karmiloff-Smith
Keyword(s):  
Spatial Cognition ◽  
Williams Syndrome ◽  
Large Scale ◽  
Genetic Disorder ◽  
Search Space ◽  
Scale Space ◽  
Chromosome 7 ◽  
Small Scale ◽  
Lim Kinase ◽  
Lim Kinase 1

Williams syndrome (WS) is a genetic disorder associated with impairments of spatial cognition. This has primarily been studied in small-scale space, and rarely in large-scale environments. In order to fully characterise the spatial deficits in WS, and also to address claims that the deletion of LIM-kinase 1 (LIMK1) on chromosome 7 is responsible for those deficits, we report an automated large-scale search task for humans that places the participant egocentrically within the search space. Search locations were defined as lights and switches embedded in the floor, and participants attempted to locate a hidden target by pressing the switch at potential locations. We compared individuals with WS to patients with smaller deletions (including LIMK1) in the critical region on chromosome 7. Whilst partial-deletion participants performed efficiently on the task, participants with WS demonstrated inefficient search profiles: their search slopes were steeper and they made significantly more erroneous revisits to previously inspected locations. Our findings indicate that spatial deficits associated with WS also affect large-scale spatial processing and suggest that hemizygous deletion of LIMK1 is not sufficient to account for any of the spatial deficits associated with WS.

scholarly journals Effects of Scale on Multimodal Deixis: Evidence From Quiahije Chatino

2021 ◽  
Vol 11 ◽  
Author(s):  
Kate Mesh ◽  
Emiliana Cruz ◽  
Joost van de Weijer ◽  
Niclas Burenhult ◽  
Marianne Gullberg
Keyword(s):  
Large Scale ◽  
Multiple Scales ◽  
Search Space ◽  
Scale Space ◽  
Hand Movements ◽  
Indigenous Language ◽  
San Juan ◽  
Dynamic Nature ◽  
Local Activity ◽  
The World

As humans interact in the world, they often orient one another's attention to objects through the use of spoken demonstrative expressions and head and/or hand movements to point to the objects. Although indicating behaviors have frequently been studied in lab settings, we know surprisingly little about how demonstratives and pointing are used to coordinate attention in large-scale space and in natural contexts. This study investigates how speakers of Quiahije Chatino, an indigenous language of Mexico, use demonstratives and pointing to give directions to named places in large-scale space across multiple scales (local activity, district, state). The results show that the use and coordination of demonstratives and pointing change as the scale of search space for the target grows. At larger scales, demonstratives and pointing are more likely to occur together, and the two signals appear to manage different aspects of the search for the target: demonstratives orient attention primarily to the gesturing body, while pointing provides cues for narrowing the search space. These findings underscore the distinct contributions of speech and gesture to the linguistic composite, while illustrating the dynamic nature of their interplay.Abstracts in Spanish and Quiahije Chatino are provided as appendices.Se incluyen como apéndices resúmenes en español y en el chatino de San Juan Quiahije. SonG ktyiC reC inH, ngyaqC skaE ktyiC noE ndaH sonB naF ngaJ noI ngyaqC loE ktyiC reC, ngyaqC ranF chaqE xlyaK qoE chaqF jnyaJ noA ndywiqA renqA KchinA KyqyaC.

Clinical manifestations of Williams syndrome in children

2021 ◽  
Vol 16 (3) ◽  
pp. 54-61
Author(s):  
A.V. Vitebskaya ◽  
◽  
N.V. Frolkova ◽  
M.D. Shakhnazarova ◽  
◽  
...  
Keyword(s):  
Mental Retardation ◽  
Williams Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Cardiovascular Disorder ◽  
Key Words Children ◽  
Chromosome 7 ◽  
Pathological Changes ◽  
Phenotypic Characteristics ◽  
Pathological Conditions

Williams syndrome (WS), also known as Williams–Beuren syndrome, is a rare genetic disorder affecting many organs and caused by hemizygous deletions of the long arm of chromosome 7 (7q11. 23). In this article, we describe typical pathological changes in the cardiovascular, endocrine, urinary, digestive, and nervous systems, as well as phenotypic characteristics and psychological aspects of this disease. We also cover a correlation between clinical manifestations of WS and genes in the remote area. The article contains a summary of the main recommendations for the treatment of individual manifestations, i.e. pathological conditions associated with this syndrome. Key words: children, Williams syndrome, cardiovascular disorder, hypercalcemia, hypothyroidism, growth retardation, mental retardation

scholarly journals Handedness and corpus callosal morphology in Williams syndrome

2013 ◽  
Vol 25 (1) ◽  
pp. 253-260 ◽  
Author(s):  
Marilee A. Martens ◽  
Sarah J. Wilson ◽  
Jian Chen ◽  
Amanda G. Wood ◽  
David C. Reutens
Keyword(s):  
Corpus Callosum ◽  
Williams Syndrome ◽  
Genetic Disorder ◽  
Control Group ◽  
Structural Magnetic Resonance Imaging ◽  
Lim Kinase ◽  
Left Handed ◽  
Hemizygous Deletion ◽  
Brain Structure And Function ◽  
And Function

AbstractWilliams syndrome is a neurodevelopmental genetic disorder caused by a hemizygous deletion on chromosome 7q11.23, resulting in atypical brain structure and function, including abnormal morphology of the corpus callosum. An influence of handedness on the size of the corpus callosum has been observed in studies of typical individuals, but handedness has not been taken into account in studies of callosal morphology in Williams syndrome. We hypothesized that callosal area is smaller and the size of the splenium and isthmus is reduced in individuals with Williams syndrome compared to healthy controls, and examined age, sex, and handedness effects on corpus callosal area. Structural magnetic resonance imaging scans were obtained on 25 individuals with Williams syndrome (18 right-handed, 7 left-handed) and 25 matched controls. We found that callosal thickness was significantly reduced in the splenium of Williams syndrome individuals compared to controls. We also found novel evidence that the callosal area was smaller in left-handed participants with Williams syndrome than their right-handed counterparts, with opposite findings observed in the control group. This novel finding may be associated with LIM-kinase hemizygosity, a characteristic of Williams syndrome. The findings may have significant clinical implications in future explorations of the Williams syndrome cognitive phenotype.

scholarly journals Children with autism are neither systematic nor optimal foragers

2010 ◽  
Vol 108 (1) ◽  
pp. 421-426 ◽  
Author(s):  
Elizabeth Pellicano ◽  
Alastair D. Smith ◽  
Filipe Cristino ◽  
Bruce M. Hood ◽  
Josie Briscoe ◽  
...  
Keyword(s):  
Large Scale ◽  
Search Task ◽  
Good Reason ◽  
Search Behavior ◽  
Children With Autism ◽  
Scale Space ◽  
School Age Children ◽  
Small Scale ◽  
Search Patterns ◽  
Target Locations

It is well established that children with autism often show outstanding visual search skills. To date, however, no study has tested whether these skills, usually assessed on a table-top or computer, translate to more true-to-life settings. One prominent account of autism, Baron-Cohen's “systemizing” theory, gives us good reason to suspect that they should. In this study, we tested whether autistic children's exceptional skills at small-scale search extend to a large-scale environment and, in so doing, tested key claims of the systemizing account. Twenty school-age children with autism and 20 age- and ability-matched typical children took part in a large-scale search task in the “foraging room”: a purpose-built laboratory, with numerous possible search locations embedded into the floor. Children were instructed to search an array of 16 (green) locations to find the hidden (red) target as quickly as possible. The distribution of target locations was manipulated so that they appeared on one side of the midline for 80% of trials. Contrary to predictions of the systemizing account, autistic children's search behavior was much less efficient than that of typical children: they showed reduced sensitivity to the statistical properties of the search array, and furthermore, their search patterns were strikingly less optimal and less systematic. The nature of large-scale search behavior in autism cannot therefore be explained by a facility for systemizing. Rather, children with autism showed difficulties exploring and exploiting the large-scale space, which might instead be attributed to constraints (rather than benefits) in their cognitive repertoire.

Super-High Dimension Complex Functions Optimization Using Adaptive Particle Swarm Optimizer

2012 ◽  
Vol 532-533 ◽  
pp. 1830-1835
Author(s):  
Ying Zhang ◽  
Bo Qin Liu ◽  
Han Rong Chen
Keyword(s):  
High Dimension ◽  
Large Scale ◽  
Particle Swarm ◽  
Search Space ◽  
Scale Space ◽  
Global Optimum ◽  
Particle Swarm Optimizer ◽  
Local Optima ◽  
Complex Functions ◽  
Global Optima

Due to the existence of large numbers of local and global optima of super-high dimension complex functions, general Particle Swarm Optimizer (PSO) methods are slow speed on convergence and easy to be trapped in local optima. In this paper, an Adaptive Particle Swarm Optimizer(APSO) is proposed, which employ an adaptive inertia factor and dynamic changes strategy of search space and velocity in each cycle to plan large-scale space global search and refined local search as a whole according to the fitness change of swarm in optimization process of the functions, and to quicken convergence speed, avoid premature problem, economize computational expenses, and obtain global optimum. We test the proposed algorithm and compare it with other published methods on several super-high dimension complex functions, the experimental results demonstrate that this revised algorithm can rapidly converge at high quality solutions.

scholarly journals Beyond Kolmogorov cascades

2019 ◽  
Vol 867 ◽  
Author(s):  
Bérengère Dubrulle
Keyword(s):  
Turbulent Flows ◽  
Large Scale ◽  
Scale Space ◽  
Energy Cascade ◽  
Cloud Formation ◽  
Small Scale ◽  
Weak Formulation ◽  
Anisotropic Flow ◽  
Energy Cascades ◽  
Homogeneity Hypothesis

The large-scale structure of many turbulent flows encountered in practical situations such as aeronautics, industry, meteorology is nowadays successfully computed using the Kolmogorov–Kármán–Howarth energy cascade picture. This theory appears increasingly inaccurate when going down the energy cascade that terminates through intermittent spots of energy dissipation, at variance with the assumed homogeneity. This is problematic for the modelling of all processes that depend on small scales of turbulence, such as combustion instabilities or droplet atomization in industrial burners or cloud formation. This paper explores a paradigm shift where the homogeneity hypothesis is replaced by the assumption that turbulence contains singularities, as suggested by Onsager. This paradigm leads to a weak formulation of the Kolmogorov–Kármán–Howarth–Monin equation (WKHE) that allows taking into account explicitly the presence of singularities and their impact on the energy transfer and dissipation. It provides a local in scale, space and time description of energy transfers and dissipation, valid for any inhomogeneous, anisotropic flow, under any type of boundary conditions. The goal of this article is to discuss WKHE as a tool to get a new description of energy cascades and dissipation that goes beyond Kolmogorov and allows the description of small-scale intermittency. It puts the problem of intermittency and dissipation in turbulence into a modern framework, compatible with recent mathematical advances on the proof of Onsager’s conjecture.

scholarly journals APLICATION OF THE GAUSSIAN MODEL IN RESEARCH SPREADING AIR POLLUTION

2021 ◽  
Author(s):  
Xindi Huang
Keyword(s):  
Large Scale ◽  
Gaussian Model ◽  
Weather Conditions ◽  
Scale Space ◽  
Small Scale ◽  
Principle Of Superposition ◽  
Continuous Action ◽  
Modified Model ◽  
Air Turbulence ◽  
Concentration Of Impurities

The article deals with the application of the Gaussian distribution for calculating the concen-tration of pollutants. When using the principle of superposition, we have the opportunity to obtain models for calculating the concentration of impurities from a point source of continuous action, in-stantaneous areal and instantaneous volumetric sources. The obtained standard deviations make it possible to assess the effect of air turbulence on the dispersion of pollutants. The first Gaussian model allows one to obtain a diffusion model of a local small-scale space and make predictions, then, based on the Gaussian model of the study, a modified model is obtained for other reliefs and weather conditions. Therefore, the modeling accuracy and applicable conditions are difficult to cope with the needs of large-scale complex meteorological conditions of air quality models.

scholarly journals Williams syndrome (syndrome of idiopathic hypercalcemia)

2012 ◽  
Vol 93 (2) ◽  
pp. 337-339
Author(s):  
R A Fayzullina ◽  
N K Shoshina ◽  
R M Galimova ◽  
T B Moroz
Keyword(s):  
Body Weight ◽  
Williams Syndrome ◽  
Muscle Tone ◽  
Genetic Material ◽  
Careful Analysis ◽  
Psychomotor Development ◽  
Lim Kinase ◽  
Lim Kinase 1 ◽  
History Of ◽  
Unusual Shape

Williams syndrome was first described in 1961 by J.C.P. Williams et al. The population frequency is 1:7500-10 000 live births; the ratio of boys and girls is about 1:1. The nature of this genetic disease is the loss of genetic material (microdeletion) of the long arm of chromosome 7. During microdeletion the loss of elastin, LIM-kinase-1 and replication factor C2 (RFC) genes occurs, some of the «lost» genes have not yet been identified. A more rare form of the syndrome exhibits deletions on chromosomes 11 and 12 - 11q13-q14, and 22q. Presented was the authors’ clinical observation. A child was born from the second pregnancy (the first one ended in miscarriage at 12 weeks of the term), which had a physiological course, first childbirth was given at the term of 40 weeks, the newborns body weight at birth was 2600 g, body length 49 cm. At 1 year 8 months the baby’s height was 80 cm, body weight was 10 kg 800 g, head circumference - 50 cm, chest circumference - 51 cm. Multiple stigmas of dysembryogenesis were present. The head was irregularly shaped, the large fontanelle was closed. A marked face dysmorphism: a broad forehead, the unusual shape of the eyes with swelling around them, epicanthal fold, drooping full cheeks, the characteristic shape of the nose with a rounded blunt end and anteriorly open nostrils, a small pointed chin, a large open mouth, full lips, especially the lower one, progeny, small teeth, jagged, and affected by caries. The thorax was narrow, a depressed sternum in the form of a «сobbler’s chest». The muscle tone was moderately reduced. The psychomotor development at the level of a 8-9 months old. Cardiologist’s conclusion: a congenital heart defect, hypoplasia of the isthmus of the aortic arch. Conclusion of the geneticist: multiple stigmas of dysembryogenesis, a characteristic phenotype. Karyological analysis 46,XY - without karyotype abnormalities. Chromatography of the amino acids - without any pathology. Diagnosis: Williams syndrome. Diagnosis of Williams syndrome sometimes possesses known difficulties. The described clinical case illustrates the possibilities of diagnosing the syndrome, based primarily on a careful analysis of the medical history, of the clinical picture and physical examination.

Architecture of the X Chromosome, Expression of LIM Kinase 1, and Recombination in the agnostic Mutants of Drosophila: A Model for Human Williams Syndrome

2004 ◽  
Vol 40 (6) ◽  
pp. 605-624 ◽  
Author(s):  
E. V. Savvateeva-Popova ◽  
A. I. Peresleni ◽  
L. M. Scharagina ◽  
A. V. Medvedeva ◽  
S. E. Korochkina ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
X Chromosome ◽  
Lim Kinase ◽  
Lim Kinase 1
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