Determining Transportation and Development Impacts of Consolidated Schools in West Virginia

School consolidation has become commonplace in the West Virginia, with a declining student population as West Virginia has lost population over the last several decades. Consolidated schools offer school districts the opportunity to provide greater offerings in terms of coursework and extracurricular activities, while also allowing a reduction in some operating costs since fewer facilities are maintained and few administrative staff are needed to operate them. Consolidation also has impacts on school transportation, both in terms of time and mode choice, as well as the impact on land use patterns around the consolidated school facility.;This research seeks to help quantify those above mentioned variables for 5 rural school facilities at several different grade levels in different geographic regions of the state. Two high schools (one county, one sub-county), one county middle school, and two combined elementary/middle schools were chosen. Data were obtained from each facility for both the bus travel time and transportation mode choice for typical daily school travel. These data were then compared to state travel guidelines and national averages regarding mode choice. Aerial photography was also obtained for the area around each of the facilities both before and after the construction of the schools. A comparison was then made between housing units in the area before and after the construction of facility to determine if these schools encourage sprawl-style development. These housing numbers were also compared to population trends in the county to see if overall population trends matched the housing unit trends.;The results quantified some of the transportation and land use issues present with consolidated schools. In all cases, the growth in number of housing units either significantly exceeded the population growth or grew significantly in spite of population loss in the counties where the school was located, indicating that these schools may serve as the impetus for some sprawl-style growth. With regards to school travel, 4 of the 5 schools had average travel times that exceeded the state-prescribed travel times for each grade level, with significant percentages of stops over those travel times. In spite of this, higher percentages of students chose busing as their primary mode of school transportation than were present in other studies on school transportation. Study recommendations include giving additional consideration to bus transportation times and costs in school consolidation decisions and facility planning, as well standardizing the tracking process for logging bus travel times

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR= 1.6; 95% CI= 1.0-2.7; p= 0.03), are more common in female probands (p= 0.02), are enriched among genes encoding FMRP targets (p= 6× 10-9), and arise predominantly on the paternal chromosome (p< 0.001). On the basis of mutation rates in probands versus unaffected siblings, we conclude that de novo frameshift indels contribute to risk in approximately 3% of individuals with ASD. Finally, by observing clustering of mutations in unrelated probands, we uncover two ASD-associated genes: KMT2E (MLL5), a chromatin regulator, and RIMS1, a regulator of synaptic vesicle release

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

SummaryWe have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6–12.0, p = 2.4 × 10-7). We estimate there are 130–234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1