Williams syndrome: a relationship between genetics, brain morphology and behaviour

Abstract

Our findings are then discussed with reference to the Rakic radial-unit hypothesis of cortical development, arguing that WS gene deletions may spare Cth yet affecting the number of founder cells/columns/radial units, hence decreasing the SA and CV. In essence, cortical brain structure in WS may be shaped by gene-dosage abnormalities.

Surface‐based morphometry reveals distinct cortical thickness and surface area profiles in Williams syndrome

“…In spite of small cohorts, these investigations of pediatric populations point to reductions in gray matter volumes in occipital and parietal lobes in Williams syndrome [Boddaert et al, 2006;Campbell et al, 2009] similar to that reported in the adult population, and increased gray matter volumes in frontal and temporal regions [Campbell et al, 2009]. Fahim et al [2012] recently compared CT and SA between 10 children with Williams syndrome and 12 typically developing controls (age range 2.3-14.6 years), and found an overall preservation of CT and reductions in SA. Although a picture of brain structure in children and adolescents with Williams syndrome has begun to emerge, little is known about the developmental trajectories of brain anatomy in Williams syndrome overall, and specifically of CT and SA.…”

“…Based on previous studies [Thompson et al, 2005;Luders et al, 2007;Fahim et al, 2012;Meda et al, 2012], we predicted that overall CT would be increased and SA would be reduced in Williams syndrome compared to healthy, age-and sexmatched controls. Furthermore, from a developmental perspective, we sought to evaluate differences in CT and SA between Williams syndrome and controls across two age groups: youth (age range 6.6-18.9), and adults (age range 20.2-51.5).…”

“…Furthermore, from a developmental perspective, we sought to evaluate differences in CT and SA between Williams syndrome and controls across two age groups: youth (age range 6.6-18.9), and adults (age range 20.2-51.5). Basing on previous studies of youth [Fahim et al, 2012] and adults [Thompson et al, 2005;Meda et al, 2012] with Williams syndrome, we hypothesized that group differences in CT would become more prominent with development.…”

“…Thus, this method constrains the results to cortical regions predefined by a priori anatomical maps. No studies [Thompson et al, 2005;Luders et al, 2007;Jackowski et al, 2009;Fahim et al, 2012;Meda et al, 2012] have yet utilized the FreeSurfer-based vertex-by-vertex surface-based approach to investigate how CT and SA are distributed across the entire cortex in Williams syndrome without constraining the analysis to predefined regions of interest (ROIs). Thus, in this study we sought to add to the literature on Williams syndrome brain anatomy by using such a surface-based approach to evaluate differences in CT and SA spatial distribution across the cortex between Williams syndrome and controls.…”

Treatment of Vomiting Attacks with Mianserin and Telazine in Patients with Williams Syndrome Using Mianserin and Telazine

“…Benign types of these tumours were rarer than 0.5% (1). They can present with chronic cough, progressive dyspnoea and obstructive symptoms but they are usually asymptomatic since the mass lesion grows significantly (1).…”