scholarly journals Is it Williams syndrome?GTF2IRD1implicated in visual-spatial construction andGTF2Iin sociability revealed by high resolution arrays

2009 ◽  
Vol 149A (3) ◽  
pp. 302-314 ◽  
Author(s):  
L. Dai ◽  
U. Bellugi ◽  
X.-N. Chen ◽  
A.M. Pulst-Korenberg ◽  
A. Järvinen-Pasley ◽  
...  
Keyword(s):  
High Resolution ◽  
Williams Syndrome ◽  
Visual Spatial ◽  
Spatial Construction

Neuropsychological profile of Italians with Williams syndrome: An example of a dissociation between language and cognition?

2004 ◽  
Vol 10 (6) ◽  
pp. 862-876 ◽  
Author(s):  
STEFANO VICARI ◽  
ELISABETH BATES ◽  
MARIA CRISTINA CASELLI ◽  
PATRIZIO PASQUALETTI ◽  
CHIARA GAGLIARDI ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
Digit Span ◽  
Older Children ◽  
Final State ◽  
Cross Sectional ◽  
Spatial Span ◽  
Mental Age ◽  
Visual Spatial ◽  
Neuropsychological Profile ◽  
Construction Tasks

Important claims have been made regarding the contrasting profiles of linguistic and cognitive performance observed in two genetically based syndromes, Williams syndrome (WS) and Down syndrome (DS). Earlier studies suggested a double dissociation, with language better preserved than nonverbal cognition in children and adults with WS, and an opposite profile in children and adults with DS. More recent studies show that this initial characterization was too simple, and that qualitatively different patterns of deficit observed within both language and visual–spatial cognition, in both groups. In the present study, large samples of children and adolescents with WS and age-matched DS are compared with typically developing (TD) controls matched to WS in mental age, on receptive and expressive lexical and grammatical abilities, semantic and phonological fluency, digit span and nonverbal visual–spatial span, and on 2 visual–spatial construction tasks. Study 1 confirmed distinct profiles of sparing and impairment for the 2 groups, within as well as between language and nonlinguistic domains, even after IQ variations were controlled. In Study 2 we compared performance of the children, adolescents and young adults with DS and WS included in the first study, divided on the basis of the chronological age of the participants (under 8 years; over 12 years). Although it is important to stress that these are cross-sectional rather than longitudinal data, the results demonstrated that the profile of younger children is different in respect to those of the older children; initial states of the system cannot be inferred by the final state. Possible neural substrates for these profiles and trajectories are discussed. (JINS, 2004, 10, 862–876.)

VI. Genome Structure and Cognitive Map of Williams Syndrome

2000 ◽  
Vol 12 (supplement 1) ◽  
pp. 89-107 ◽  
Author(s):  
Julie R. Korenberg ◽  
Xiao-Ning Chen ◽  
Hamao Hirota ◽  
Zona Lai ◽  
Ursula Bellugi ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
Large Scale ◽  
Hot Spot ◽  
Genome Structure ◽  
Single Copy ◽  
Human Cognition ◽  
Chromosome Band ◽  
Gene Marker ◽  
Artificial Chromosomes ◽  
Visual Spatial

Williams syndrome (WMS) is a most compelling model of human cognition, of human genome organization, and of evolution. Due to a deletion in chromosome band 7q11.23, subjects have cardiovascular, connective tissue, and neurode-velopmental deficits. Given the striking peaks and valleys in neurocognition including deficits in visual-spatial and global processing, preserved language and face processing, hypersociability, and heightened affect, the goal of this work has been to identify the genes that are responsible, the cause of the deletion, and its origin in primate evolution. To do this, we have generated an integrated physical, genetic, and transcriptional map of the WMS and flanking regions using multicolor metaphase and interphase fluorescence in situ hybridization (FISH) of bacterial artificial chromosomes (BACs) and P1 artificial chromosomes (PACs), BAC end sequencing, PCR gene marker and microsatellite, large-scale sequencing, cDNA library, and database analyses. The results indicate the genomic organization of the WMS region as two nested duplicated regions flanking a largely single-copy region. There are at least two common deletion breakpoints, one in the centromeric and at least two in the telomeric repeated regions. Clones anchoring the unique to the repeated regions are defined along with three new pseudogene families. Primate studies indicate an evolutionary hot spot for chromosomal inversion in the WMS region. A cognitive phenotypic map of WMS is presented, which combines previous data with five further WMS subjects and three atypical WMS subjects with deletions; two larger (deleted for D7S489L) and one smaller, deleted for genes telomeric to FZD9, through LIMK1, but not WSCR1 or telomeric. The results establish regions and consequent gene candidates for WMS features including mental retardation, hypersociability, and facial features. The approach provides the basis for defining pathways linking genetic underpinnings with the neuroanatomical, functional, and behavioral consequences that result in human cognition.

Language and Cognition in Two Children with Williams Syndrome

1989 ◽  
Vol 32 (3) ◽  
pp. 489-500 ◽  
Author(s):  
Donna Thal ◽  
Elizabeth Bates ◽  
Ursula Bellugi
Keyword(s):  
Language Acquisition ◽  
Spatial Cognition ◽  
Williams Syndrome ◽  
Cognitive Profile ◽  
Single Word ◽  
Normal Children ◽  
Linguistic Performance ◽  
Visual Spatial ◽  
Language And Cognition

In this study, aspects of language, single-gesture retrieval, combinatorial play, and visual-spatial cognition are reported in two children with Williams syndrome who were in the single-word stage of language acquisition. Williams syndrome children are of particular interest because, when older (10–15 years), they display an unusual profile of abilities that may include superior linguistic performance compared with other aspects of cognition. The two children in the present study are compared to a group of normal children in the single-word stage of language acquisition with a mean age of 14.8 months, a group of single-word stage children who are 6–18 months delayed, and a group of older normal children with a mean age of 23.5 months. Results are compatible with the unusual cognitive profile displayed by older Williams syndrome children. We discuss the possibility that this profile involves mechanisms that extend beyond the boundaries of language proper.

Consequences of severe visual-spatial deficits for reading acquisition: Evidence from Williams syndrome

Neurocase ◽  
2013 ◽  
Vol 19 (4) ◽  
pp. 328-347 ◽  
Author(s):  
Banchiamlack Dessalegn ◽  
Barbara Landau ◽  
Brenda Rapp
Keyword(s):  
Williams Syndrome ◽  
Reading Acquisition ◽  
Visual Spatial

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

2003 ◽  
Vol 5 (4) ◽  
pp. 311-321 ◽  
Author(s):  
Hamao Hirota ◽  
Rumiko Matsuoka ◽  
Xiao-Ning Chen ◽  
Lora S. Salandanan ◽  
Alan Lincoln ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
Spatial Processing ◽  
Visual Spatial ◽  
Visual Spatial Processing

Development of bilateral parietal activation for complex visual‐spatial function: Evidence from a visual‐spatial construction task

2020 ◽  
Author(s):  
Katrina Ferrara ◽  
Anna Seydell‐Greenwald ◽  
Catherine E. Chambers ◽  
Elissa L. Newport ◽  
Barbara Landau
Keyword(s):  
Visual Spatial ◽  
Spatial Function ◽  
Spatial Construction ◽  
Construction Task
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