Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype

International audienceBackground: Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expression in WBS and the relationship between WBS and autistic disorder. Methodology: The study was conducted on 9 French individuals aged from 4 to 37 years old with autistic disorder associated with WBS. Behavioral assessments were performed using Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) scales. Molecular characterization of the WBS critical region was performed by FISH. Findings: FISH analysis indicated that all 9 patients displayed the common WBS deletion. All 9 patients met ADI-R and ADOS diagnostic criteria for autism, displaying stereotypies and severe impairments in social interaction and communication (including the absence of expressive language). Additionally, patients showed improvement in social communication over time. Conclusions: The results indicate that comorbid autism and WBS is more frequent than expected and suggest that the common WBS deletion can result in a continuum of social communication impairment, ranging from excessive talkativeness and overfriendliness to absence of verbal language and poor social relationships. Appreciation of the possible co-occurrence of WBS and autism challenges the common view that WBS represents the opposite behavioral phenotype of autism, and might lead to improved recognition of WBS in individuals diagnosed with autism

Science PhD Career Preferences: Levels, Changes, and Advisor Encouragement

Even though academic research is often viewed as the preferred career path for PhD trained scientists, most U.S. graduates enter careers in industry, government, or “alternative careers.” There has been a growing concern that these career patterns reflect fundamental imbalances between the supply of scientists seeking academic positions and the availability of such positions. However, while government statistics provide insights into realized career transitions, there is little systematic data on scientists' career preferences and thus on the degree to which there is a mismatch between observed career paths and scientists' preferences. Moreover, we lack systematic evidence whether career preferences adjust over the course of the PhD training and to what extent advisors exacerbate imbalances by encouraging their students to pursue academic positions. Based on a national survey of PhD students at tier-one U.S. institutions, we provide insights into the career preferences of junior scientists across the life sciences, physics, and chemistry. We also show that the attractiveness of academic careers decreases significantly over the course of the PhD program, despite the fact that advisors strongly encourage academic careers over non-academic careers. Our data provide an empirical basis for common concerns regarding labor market imbalances. Our results also suggest the need for mechanisms that provide PhD applicants with information that allows them to carefully weigh the costs and benefits of pursuing a PhD, as well as for mechanisms that complement the job market advice advisors give to their current students

Verbal thinking and inner speech use in autism spectrum disorder

The extent to which cognition is verbally mediated in neurotypical individuals is the subject of debate in cognitive neuropsychology, as well as philosophy and psychology. Studying “verbal thinking” in developmental/neuropsychological disorders provides a valuable opportunity to inform theory building, as well as clinical practice. In this paper, we provide a comprehensive, critical review of such studies among individuals with autism spectrum disorder (ASD). ASD involves severe social-communication deficits and limitations in cognitive/behavioural flexibility. The prevailing view in the field is that neither cognition nor behaviour is mediated verbally in ASD, and that this contributes to diagnostic features. However, our review suggests that, on the contrary, most studies to date actually find that among people with ASD cognitive task performance is either a) mediated verbally in a typical fashion, or b) not mediated verbally, but at no obvious cost to overall task performance. Overall though, these studies have methodological limitations and thus clear-cut conclusions are not possible at this stage. The aim of the review is to take stock of existing empirical findings, as well as to help develop the directions for future research that will resolve the many outstanding issues in this field

A clinimetric analysis of the Pressure Ulcer Risk Primary or Secondary Evaluation Tool : PURPOSE-T

The assessment of patients' risk for developing pressure ulcers is a routine and fundamental nursing process undertaken to prevent avoidable harm to patients in all care settings. Many risk assessment tools are currently used in clinical practice, however no individual tool is recommended by advisory bodies such as the National Institute for Health and Care Excellence or the European Pressure Ulcer Advisory Panel. The evidence base on the value of structured risk assessment tools in reducing the incidence or severity of pressure ulcers is poor. This purpose of this article is to provide a clinimetric analysis of the recently developed Pressure Ulcer Risk Primary or Secondary Evaluation Tool (PURPOSE-T) and identify areas for future research to improve the utility of structured risk assessment in identifying patients at risk of developing pressure ulcers