Theory of Mind "emotion", developmental characteristics and social understanding in children and adolescents with intellectual disabilities

Patterns of development of ToM-emotion abilities in intellectually disabled (ID) children and typically developing (TD) children matched on their developmental age were investigated. The links between cognition, language, social understanding and ToM-emotion abilities were examined. EDEI-R (Perron-Borelli, M. (1996). Echelles Différentielles d’Efficiences Intellectuelles. Forme Révisée (EDEI-R). Paris: Editions et Applications Psychologiques) was used to match participants and to assess social understanding. ECOSSE (Lecocq, P. (1996). L’E.CO.S.SE. Une épreuve de compréhension syntaxico-sémantique. Paris: Presses Universitaires du Septentrion) assessed the level of syntactic and semantic comprehension of French speaking, to ensure a good comprehension of the questions in ToM-emotion tasks. Adapted tasks of the understanding of causes and consequences of emotions (Quintal, G. (2001). La compréhension des émotions chez les enfants d’âge préscolaire dans le cadre d’une théorie de l’esprit. Un-published master's thesis, University of Montreal, Québec) assessed ToM-emotion abilities (Nader-Grosbois, N., Thirion-Marissiaux, A.-F., & Grosbois, M. (2003). Adapted tests for assessment of the Theory of Mind of causes and consequences of emotions (unpublished documents). Louvain-la-Neuve, Belgium). Similarities in the development of ToM-emotion abilities and social understanding were found, respectively, in both groups (delay hypothesis in ID participants). Some differences between groups were observed in the links between social understanding and ToM-emotion abilities. Significant correlations between developmental characteristics (verbal and non-verbal cognition) and ToM-emotion abilities were obtained for both groups. Verbal cognition explained an important part of the variance of ToM results (understanding of causes and consequences of emotions). The impact of chronological age on ToM-emotion abilities was also examined and is discussed.     

Prevalence and features of osteoporosis in the French general population: The Instant study

ObjectivesTo determine the prevalence of diagnosed osteoporosis, the extent of treatment use and the incidence of fracture in a representative sample of the French general population.MethodsA cross-sectional epidemiological survey of osteoporosis in 2613 women over 45 years in the general population was conducted using a stratified random sampling method and face-to-face interviews. Information was collected on the diagnosis of osteoporosis, fracture history, treatments, clinical and sociodemographic variables. Variables potentially associated with fracture were evaluated using stepwise multivariate logistic regression analysis.ResultsThe overall prevalence of diagnosed osteoporosis was 9.7% [8.6%; 10.9%] and prevalence increased linearly with age. Overall, 155 women (61.0%) received osteoporosis treatment and treatment rates also increased with age. The most frequently prescribed treatments were bisphosphonates, in 50.3% of treated women. The treatment duration was over 2 years for 72.9% of treated women. Overall, 115 (45.3%) reported at least one previous fracture. Vertebral fractures were reported by 101 women (39.8%) and limb fractures by 41 women (16.1%). Multivariate logistic regression analysis identified fracture before the age of 40, menopause before the age of 40, use of sleeping pills, consultation with an eye specialist and history of cardiovascular disease as variables independently associated with fracture.ConclusionsOsteoporosis in France appears to be under-diagnosed and under-treated. Awareness and management of risk factors for osteoporosis and fracture could thus be improved.     

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. As the patients carried a common USH2A haplotype, they likely shared a mutation not found by standard sequencing techniques. Analysis of RNA from nasal cells in one affected individual identified an additional pseudoexon (PE) resulting from a deep intronic mutation. This was confirmed by minigene assay. This is the first example in Usher syndrome (USH) with a mutation causing activation of a PE. The finding of this alteration in eight other individuals of mixed European origin emphasizes the importance of including RNA analysis in a comprehensive diagnostic service. Finally, this mutation, which would not have been found by whole-exome sequencing, could offer, for the first time in USH, the possibility of therapeutic correction by antisense oligonucleotides (AONs).     

Non-USH2A mutations in USH2 patients

We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A. PDZD7, an Usher syndrome type 2 (USH2) related gene, was analyzed when indicated. We found that mutations in GPR98 contribute significantly to USH2. We report 17 mutations in 10 individuals, doubling the number of GPR98 mutations reported to date. In contrast to mutations in usherin, the mutational spectrum of GPR98 predominantly results in a truncated protein product. This is true even when the mutation affects splicing, and we have incorporated a splicing reporter minigene assay to show this, where appropriate. Only two mutations were found which we believe to be genuine missense changes. Discrepancy in the mutational spectrum between GPR98 and USH2A is discussed. Only two patients were found with mutations in DFNB31, showing that mutations of this gene contribute to only a very small extent to USH2. Close examination of the clinical details, where available, for patients in whom no mutation was found in USH2A, GPR98, or DFNB31, showed that most of them had atypical features. In effect, these three genes account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis.     

Conference report: bioanalytical sessions at the 2011 Eastern Analytical Symposium

The 2011 Eastern Analytical Symposium (EAS) and Exposition was held at the Garden State Exhibit Center in Somerset NJ, USA, 14-17 November and marked the 50th anniversary of EAS, with a theme of 'Celebrating Innovation in Analysis'. The technical program was rich in presentations relevant to bioanalytical sciences, covering biomarkers, proteomics/metabolomics, small molecule and protein LC-MS bioanalysis, immunogenicity and biological sample preparation. This conference report highlights some of the lectures and short courses of interest to bioanalysts at the 2011 EAS.