The Effect of Retention Upon Student Performance.

To investigate the effect of retention upon student performance, this study focused on analyses of reading and mathematics scores from SRA Achievement Tests for three years--1978, 1979, and 1980. The population was all students retained for 1979-1980 in grades first through eighth in public schools of Avoyelles Parish, Louisiana. From sixteen schools in twelve towns the 711 involved students included 435 boys and 276 girls. Evaluation for retention effect was by compared differences between gains for year of repetition and those for previous year. Mean gains for these years were obtained by subtraction of relative scores and analyzed by subject, sex, and grade level. Application of t-tests at the .05 level of confidence resulted in rejection of three of the six null hypotheses when significant differences were shown for reading and in grade-level comparisons for both reading and mathematics. Since no significant differences were found for mathematics nor in comparison by sex for both subjects, the other three null hypotheses were confirmed. The lack of significant gain-differences between girls and boys seemed to imply lack of significant differences in other factors that could have had influence on the achievement of this particular population. Second grade\u27s significant gains did not verify it as the best grade level of retention, but it seemed to confirm theories on learning rates of primary-age children. Sixth grade formed the achievement plateau where the mean reading gain for the year of repetition almost matched the total mean gain for grades second through eighth, while lesser gains were noted for seventh and eighth grades. This development appeared to pinpoint sixth grade as the best level for retention should it be deemed necessary for some students. In light of future expansion of minimum-standard testing which could involve increased retention, it was recommended that a longitudinal study be made and that it utilize attitudinal and self-concept scales as well as a socioeconomic index. Additionally warranted would be the inclusion of a focus on developmental differences according to sex

Abstracts from the NIHR INVOLVE Conference 2017

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in $\textit{CHM}$ in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre