Understanding the Push-In/Pull-Out Method: Why Support Matters for Socialization

My research combines qualitative and quantitative methods in order to answer: How do the social dynamics of children with autism change as they transition throughout the day from general ed to special ed settings in a Hartford public school? Findings are based upon coded observations of three third-grade students with autism for more than twenty hours in various classroom settings, and also thematic analysis of interviews with three of their classroom educators at the site in Hartford, Connecticut. The findings shows that students with autism are more likely to have positive physical and verbal interactions in structured environments rather than unstructured environments throughout the day

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Purpose Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving a significant number of cases with neurodevelopmental disorders undiagnosed. Methods We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome. Results Computational facial and Human Phenotype Ontology–based comparisons showed that the phenotype of probands with inherited CHD3 variants overlaps with the phenotype previously associated with de novo CHD3 variants, whereas heterozygote parents are mildly or not affected, suggesting variable expressivity. In addition, similarly reduced expression levels of CHD3 protein in cells of an affected proband and of healthy family members with a CHD3 protein-truncating variant suggested that compensation of expression from the wild-type allele is unlikely to be an underlying mechanism. Notably, most inherited CHD3 variants were maternally transmitted. Conclusion Our results point to a significant role of inherited variation in Snijders Blok-Campeau syndrome, a finding that is critical for correct variant interpretation and genetic counseling and warrants further investigation toward understanding the broader contributions of such variation to the landscape of human disease

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Purpose: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving a significant number of cases with neurodevelopmental disorders undiagnosed. Methods: We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome. Results: Computational facial and Human Phenotype Ontology–based comparisons showed that the phenotype of probands with inherited CHD3 variants overlaps with the phenotype previously associated with de novo CHD3 variants, whereas heterozygote parents are mildly or not affected, suggesting variable expressivity. In addition, similarly reduced expression levels of CHD3 protein in cells of an affected proband and of healthy family members with a CHD3 protein-truncating variant suggested that compensation of expression from the wild-type allele is unlikely to be an underlying mechanism. Notably, most inherited CHD3 variants were maternally transmitted. Conclusion: Our results point to a significant role of inherited variation in Snijders Blok-Campeau syndrome, a finding that is critical for correct variant interpretation and genetic counseling and warrants further investigation toward understanding the broader contributions of such variation to the landscape of human disease

C IV Class Tram Crashworthiness Assessment

The increasing number of accidents involving urban light rail vehicles makes the crashworthiness of this means of transport an issue of considerable importance. Simulations show that the new AnsaldoBreda Sirio-Milan tram fulfils the European crashworthiness requirements for railway vehicle bodies. The impact scenarios in prEN 15227 are less severe than those prescribed by Italian requirements for tramway and light rail system, UNI 11174. In this respect, an additional impact scenario is considered and structural changes to enhance the crashworthiness of the tram are proposed. Furthermore, the feasibility of a novel safety device intended to prevent serious injury to the driver even in the most severe of crashes is investigated