Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Background Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, with serious deficits in visuospatial tasks in comparison to relatively proficient performance in some other cognitive domains such as language and face processing. Individuals with partial genetic deletions within the WS critical region (WSCR) have provided insights into the contribution of specific genes to this complex phenotype. However, the combinatorial effects of different genes remain elusive. Methods We report on visuospatial cognition in two individuals with contrasting partial deletions in the WSCR: one female (HR), aged 11 years 9 months, with haploinsufficiency for 24 of the WS genes (up to GTF2IRD1), and one male (JB), aged 14 years 2 months, with the three most telomeric genes within the WSCR deleted, or partially deleted. Results Our in-depth phenotyping of the visuospatial domain from table-top psychometric, and small- and large-scale experimental tasks reveal a profile in HR in line with typically developing controls, albeit with some atypical features. These data are contrasted with patient JB’s atypical profile of strengths and weaknesses across the visuospatial domain, as well as with more substantial visuospatial deficits in individuals with the full WS deletion. Conclusions Our findings point to the contribution of specific genes to spatial processing difficulties associated with WS, highlighting the multifaceted nature of spatial cognition and the divergent effects of genetic deletions within the WSCR on different components of visuospatial ability. The importance of general transcription factors at the telomeric end of the WSCR, and their combinatorial effects on the WS visuospatial phenotype are also discussed

Training pedestrian safety skills in youth with intellectual disabilities using fully immersive virtual reality ::a feasibility study

The possibility to move independently outdoor has a huge impact on the quality of life. However, it requires complex skills, difficult to acquire for youth with intellectual disabilities (ID). They need an engaging and varied environment in which they can safely train these skills for all the time they may need. We present an exploratory study that aims to evaluate the usability of virtual reality (immersive headset) as learning tool for youth with ID. We developed a simulator of a pedestrian crossing able to reproduce different environmental conditions (i.e., weather, day-time/night-time, and drivers’ kindness). We tested our simulator with 15 people (9–18 years old) with ID. The tests showed good acceptability and a learning effect was visible after only four consecutive sessions, for a total of sixteen simulated crossings. However, additional studies are required (i) to assess in which measure this effect is imputable to actually learned crossing road skills or to a better control over the tool, (ii) to measure the transfer of the learning from virtual reality to real word conditions

From noted ‘phenomenon’ to ‘missing person’: A case of the historical construction of the unter-journalist

Tim Hewat was celebrated during his tenure at Granada Television as one of the most influential journalists working in Britain in the second half of the 20th century, but then largely forgotten for 30 years.This is explained as a function of the specific historicization of journalists, reflecting both academic prejudices and occupational values. The history of journalism is largely devoid of the lived experiences of the majority of its practitioners. Hewat’s case indicates that journalists disappear from history when they step outside the domains of valorized media institutions and journalism hierarchies that contribute to notions such as the Fourth Estate. Mobilizing Paul Thompson’s category of ‘underclasses’, this article argues that this reductionism has largely rendered the majority of journalists historically invisible and classified them as unter-journalists , a kind of sub-category which does not comply with a priori norms. © The Author(s) 2010