Search results for "Williams syndrome"

Language and Cognition. Insights from Williams syndrome

2011

Exploring Evolution in Ceboidea (Platyrrhini, Primates) by Williams-Beuren Probe (HSA 7q11.23) Chromosome Mapping

2007

The ancestral platyrrhine karyotype was characterised by a syntenic association of human 5 and a small segment of human 7 orthologues. This large syntenic association has undergone numerous rearrangements in various phylogenetic lines. We used a locus-specific molecular cytogenetic approach to study the chromosomal evolution of the human 7q11.23 orthologous sequences (William-Beuren syndrome, WS) in various Ceboidea (Platyrrhini) species. The fluorescent in situ hybridisation of the WS probe revealed a two-way pattern of chromosomal organisation that suggests various evolutionary scenarios. The first pattern (seen in Callimico and Saimiri ) includes a fairly simple disruption of the 7/5 syn…

Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome

2020

Williams-Beuren syndrome (WBS) is a rare disorder caused by a heterozygous deletion of 26-28 contiguous genes that affects the brain and cardiovascular system. Here, we investigated whether WBS affects aortic structure and function in the complete deletion (CD) mouse model harbouring the most common deletion found in WBS patients. Thoracic aortas from 3-4 months-old male CD mice and wild-type littermates were mounted in wire myographs or were processed for histomorphometrical analysis. Nitric oxide synthase (NOS) isoforms and oxidative stress levels were assessed. Ascending aortas from young adult CD mice showed moderate (50%) luminal stenosis, whereas endothelial function and oxidative str…

Explicit Oral Narrative Intervention for Students with Williams Syndrome

2018

Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despite their relative strengths in social and grammatical skills, students with Williams syndrome (WS) do not show parallel cognitive and pragmatic performance in narrative generation tasks. The aim of the present study was to assess retelling of a TV cartoon tale and the effect of an individualized explicit instruction of the narrative structure. Participants included eight students with WS who attended different special education levels. Narratives…

Evolution of the Human chromosome 7: new information from the mapping of William-Breuren locus on non human primates chromosomes.

2004

Human chromosome 7 (HSA7) derives, by a pericentric inversion and a paracentric inversion, from an ancestral chromosome homologous to chromosome 10 of Pongo pygmaeus (the Asiatic Orang-Utan). Nevertheless the genesis of this autosome during primates evolution is not clear. Even if chromosome painting shows that HAS 7 synteny is highly conserved, GTG-banding comparison in Hominoidea and Cercopithecoidea indicates the probable occurrence of complex rearrangements during the evolution. In this study we used a single locus FISH approach, a powerful tool to detect fine rearrangements, in order to investigate the evolution of HAS 7. We report the chromosome mapping of Williams-Beuren syndrome loc…

De-novo Williams–Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation

2017

Achados orais na síndrome de williams-beuren

2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contr…

LANGUAGE AND SPACE IN WILLIAMS SYNDROME

2010

Peripersonal Visuospatial Abilities in Williams Syndrome Analyzed by a Table Radial Arm Maze Task

2020

Williams syndrome (WS) is a genetic deletion syndrome characterized by severe visuospatial deficits affecting spatial exploration and navigation abilities in extra-personal space.To date, little is known about spatial elaboration and reaching abilities in the peripersonal space in individuals with WS. The present study is aimed at evaluating the visuospatial abilities in individuals with WS and comparing their performances with those of mental age-matched typically developing (TD) children by using a highly sensitive ecological version of the Radial Arm Maze (table RAM). We evaluated 15 individuals with WS and 15 TD children in two different table RAM paradigms: the free-choice paradigm, ma…