Exploring the Social Experiences of College Students Who Have Autism Spectrum Disorders: Examining Neurodiversity on Campus

Research and discussion on the prevalence of autism spectrum disorders in education is longstanding, albeit almost exclusive to secondary students. Within less than ten years the number of secondary students who were receiving special education services for autism doubled, two percent of which later self-identified at 2yr and 4yr institutions upon enrollment. This phenomenological study explores the experiences of college students who have autism spectrum disorders, focusing on the social experiences that impact college persistence and retention. The following research questions were guide to this study: what are the social experiences of college students who have autism? What role(s) do various social experiences play in the persistence and retention of college students who have autism? Future research recommendations and implications for the results of this study include use among student affairs practitioners and disability services advocates to examine and challenge existing campus culture related to student engagement and involvement

Exploring Student Diversity: College Students Who Have Autism Spectrum Disorders

Higher education literature advises that college students who have autism spectrum disorders overwhelmingly attend community colleges. However the persistence and retention of college students who have autism spectrum disorders is not well documented. Absent among the existing literature are first-person narratives of college students who have autism. This phenomenological study explored the experiences of college students who have autism spectrum disorders, focusing on the social experiences that impact college persistence and retention. The following research questions guided the study: What are the social experiences of college students who have autism? What role(s) do various social experiences play in the persistence and retention of college students who have autism? This study explores implications for community colleges in concert with institutional responsibility for its diverse body of scholars

Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive Diabetes

Objective: Heterozygous loss-of-function mutations in HNF1A cause maturity-onset diabetes of the young (MODY). Affected individuals can be treated with low-dose sulfonylureas. Individuals with homozygous HNF1A mutations causing MODY have not been reported. Research design and methods: We phenotyped a kindred with young-onset diabetes and performed molecular genetic testing, a mixed meal tolerance test, a sulfonylurea challenge, and in vitro assays to assess variant protein function. Results: A homozygous HNF1A variant (p.A251T) was identified in three insulin-treated family members diagnosed with diabetes before 20 years of age. Those with the homozygous variant had low hs-CRP levels (0.2-0.8 mg/L), and those tested demonstrated sensitivity to sulfonylurea given at a low dose, completely transitioning off insulin. In silico modeling predicted a variant of unknown significance; however, in vitro studies supported a modest reduction in transactivation potential (79% of that for the wild type; P < 0.05) in the absence of endogenous HNF1A. Conclusions: Homozygous hypomorphic HNF1A variants are a cause of HNF1A-MODY. We thus expand the allelic spectrum of variants in dominant genes causing diabetes.This article is freely available via Open Access. Click on the publisher URL to access it via the publisher's site.This work was undertaken with funds from the Diabetes Research & Wellness Foundation (through a Sutherland-Earl Fellowship 2013–2016) and the Imperial College Healthcare Charity, and with infrastructure support from the National Institute for Health Research (NIHR) Imperial Biomedical Research Centre (BRC), Imperial Clinical Research Facility, and Clinical Research Network. S.M. is currently supported by a Future Leaders Mentorship Award from the European Association for the Study of Diabetes. A.J. was a Diabetes UK George Alberti Clinical Research Fellow when contributing to this study. S.E. received a Senior Investigator Award from Wellcome Trust. A.L.G. is a Wellcome Senior Fellow in Basic Biomedical Science. Part of this work was funded in Oxford by the Wellcome Trust (grants 095101 and 200837 [both to A.L.G.]). The research was also funded by the NIHR Oxford and BRC (to A.L.G.).Accepted version, submitted versio

The common p.R114W <i>HNF4A </i>mutation causes a distinct clinical subtype of monogenic diabetes

HNF4A mutations cause increased birth weight, transient neonatal hypoglycaemia and maturity onset diabetes of the young (MODY). The most frequently reported HNF4A mutation is p.R114W (previously p.R127W) but functional studies have shown inconsistent results, there is lack of co-segregation in some pedigrees and an unexpectedly high frequency in public variant databases. We confirm that p.R114W is a pathogenic mutation with an odds ratio of 30.4 (95% CI: 9.79 - 125, P=2x10(-21)) for diabetes in our MODY cohort compared to controls. p.R114W heterozygotes do not have the increased birth weight of patients with other HNF4A mutations (3476g vs. 4147g, P=0.0004) and fewer patients responded to sulfonylurea treatment (48% vs. 73%, P=0.038). p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes by age 30 compared to 71% for other HNF4A mutations. We re-define p.R114W as a pathogenic mutation causing a distinct clinical subtype of HNF4A MODY with reduced penetrance, reduced sensitivity to sulfonylurea treatment and no effect on birth weight. This has implications for diabetes treatment, management of pregnancy and predictive testing of at-risk relatives. The increasing availability of large-scale sequence data is likely to reveal similar examples of rare, low-penetrance MODY mutations.</p