ILLNESS IDENTITY AND PSYCHOLOGICAL ADAPTATION IN INDIVIDUALS WITH HYPERMOBILE EHLERS DANLOS SYNDROME OR HYPERMOBILITY SPECTRUM DISORDER

Background: Much of the research literature in the hEDS and HSD populations focuses on diagnostic classification and quantifying patients’ physical and psychological functioning. Little is known about the psychological processes and outcomes of individuals living with these illnesses. Objective: Our study aims to explore factors related to illness identity and psychological adaptation in individuals with hEDS or HSD. Methods: We distributed an online survey through the EDS Society to adults with hEDS or HSD. Results: Overall, 399 individuals participated in our study. Participants viewed their illness as threatening, perceived moderate uncertainty, had moderate confidence in their coping ability, moderate anxiety, mild depression, and moderate adaptation. Higher rejection identity was significantly correlated with lower number of illness characteristics, greater perceived impact of illness characteristics, more threatening illness perceptions, and more uncertainty. In regression analysis, individuals who felt threatened by and uncertain about their illness were significantly more likely to reject their illness as part of their identity. Higher acceptance identity was significantly correlated with less uncertainty and less coping self-efficacy. In regression analysis, individuals who had higher coping self-efficacy were less likely to accept their illness as part of their identity. Higher engulfment identity was significantly correlated with higher number of illness characteristics, less perceived impact of illness characteristics, less threatening illness perceptions, more uncertainty, and more coping self-efficacy. In regression analysis, individuals who viewed their illness as uncertain and had higher coping self-efficacy were more likely to become engulfed by their illness. Additionally, individuals who perceived their illness as threatening were less likely to become engulfed by their illness. Higher enrichment identity was correlated with more threatening illness perceptions and less coping self-efficacy. In regression analysis, individuals with higher coping self-efficacy were less likely to be enriched by their illness. Discussion: Further research is needed to understand the unexpected relationships among the illness identity states, coping self-efficacy, and emotional distress. Our study contributes to better understanding of illness identity and psychological adaptation in individuals with hEDS or HSD. This may allow genetic counselors to better care for their patients and potentially provide opportunities for psychotherapeutic intervention

A multiple case study on the phenomenon of culturally responsive pedagogy in rural western North Carolina

As schools have become increasingly diverse, the teaching force has remained mainly White (Brown, 2004). The disparity between students and teachers is seen in schools across the nation, including small, rural schools. Many teachers are unprepared for the reality that their cultural, racial, ethnic, or linguistic backgrounds will differ from those of their students (Brown-Jeffy & Cooper, 2011). The issues that can result from these cultural differences require a teaching force equipped with the knowledge of teaching in culturally responsive ways to better meet the needs of their diverse student populations. Research available informing of knowledge about culturally responsiveness and culturally responsive pedagogy (CRP) is focused mainly on urban settings. This study is significant in that it examines four culturally responsive teachers in a rural setting as, according to Arnold, Newman, Gaddy, & Dean (2005) and Cicchinelli (2011), there is very little research available on culturally responsive teachers in rural schools. Additionally, while the current literature recommends necessary CRP classroom practices, there is very little research that examines these recommendations in practice in the classroom, even in urban settings (Ball & Tyson, 2011). This study provides an indepth analysis of the actual practices of four rural culturally responsive teachers and compares those practices with the existing literature as presented in the Characteristic Components of Culturally Responsive Pedagogy Framework (CCCRP). Through an indepth analysis of four rural classroom teachers, using a qualitative multiple case study informed by a phenomenological approach, the study offers a unique perspective of culturally responsive pedagogy in action. It attempts to shed light on the perspectives and development of rural teachers as to their experiences, attitudes, and beliefs regarding CRP, the CRP practices they use, and how these practices intersect with the researchbased principles of CRP. The analysis of data collected provided an understanding of practices that support current research as presented in the CCCRP Framework. Other findings offer an additional viewpoint to existing literature and are discussed in relationship with current literature: 1) care is an integral attitude necessary in cultural responsiveness, though it is not always mentioned in the CRP literature. While some may state that all teachers care, caring is not always present in the repertoire of all teachers; 2) according to the four nominated CRP teachers, the teacher education program was not integral to the development of their cultural responsiveness; 3) all four teachers found themselves in situations where they felt it necessary to break the rules of the school culture; and 4) while the characteristic of developing community relations is present in the CCCRP framework, the presence of developing and empowering these relationships is not supported by the data collected in this study

Web platform vs in-person genetic counselor for return of carrier results from exome sequencing a randomized clinical trial

© 2018 American Medical Association. All rights reserved. IMPORTANCE A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them. OBJECTIVE To test whether a web-based platform is noninferior to a genetic counselor for educating patients about their carrier results from exome sequencing. DESIGN, SETTING, AND PARTICIPANTS A randomized noninferiority trial conducted in a longitudinal sequencing cohort at the National Institutes of Health from February 5, 2014, to December 16, 2016, was used to compare the web-based platform with a genetic counselor. Among the 571 eligible participants, 1 to 7 heterozygous variants were identified in genes that cause a phenotype that is recessively inherited. Surveys were administered after cohort enrollment, immediately following trial education, and 1 month and 6 months later to primarily healthy postreproductive participants who expressed interest in learning their carrier results. Both intention-to-treat and per-protocol analyses were applied. INTERVENTIONS A web-based platform that integrated education on carrier results with personal test results was designed to directly parallel disclosure education by a genetic counselor. The sessions took a mean (SD) time of 21 (10.6), and 27 (9.3) minutes, respectively. MAIN OUTCOMES AND MEASURES The primary outcomes and noninferiority margins (dNI) were knowledge (0 to 8, dNI = -1), test-specific distress (0 to 30, dNI = +1), and decisional conflict (15 to 75, dNI = +6). RESULTS After 462 participants (80.9%) provided consent and were randomized, all but 3 participants (n = 459) completed surveys following education and counseling; 398 (86.1%) completed 1-month surveys and 392 (84.8%) completed 6-month surveys. Participants were predominantly well-educated, non-Hispanic white, married parents; mean (SD) age was 63 (63.1) years and 246 (53.6%) were men. The web platform was noninferior to the genetic counselor on outcomes assessed at 1 and 6 months: knowledge (mean group difference, -0.18; lower limit of 97.5% CI, -0.63; dNI = -1), test-specific distress (median group difference, 0; upper limit of 97.5% CI, 0; dNI = +1), and decisional conflict about choosing to learn results (mean group difference, 1.18; upper limit of 97.5% CI, 2.66; dNI = +6). There were no significant differences between the genetic counselors and web-based platform detected between modes of education delivery in disclosure rates to spouses (151 vs 159; relative risk [RR], 1.04; 95% CI, 0.64-1.69; P > .99), children (103 vs 117; RR, 1.07; 95% CI, 0.85-1.36; P = .59), or siblings (91 vs 78; RR, 1.17; 95% CI, 0.94-1.46; P = .18). CONCLUSIONS AND RELEVANCE This trial demonstrates noninferiority of web-based return of carrier results among postreproductive, mostly healthy adults. Replication studies among younger and more diverse populations are needed to establish generalizability. Yet return of results via a web-based platform may be sufficient for subsets of test results, reserving genetic counselors for return of results with a greater health threat

A major grain protein content locus on barley (Hordeum vulgare L.) chromosome 6 influences flowering time and sequential leaf senescence

Timing of various developmental stages including anthesis and whole-plant (‘monocarpic’) senescence influences yield and quality of annual crops. While a correlation between flowering/seed filling and whole-plant senescence has been observed in many annuals, it is unclear how the gene networks controlling these processes interact. Using near-isogenic germplasm, it has previously been demonstrated that a grain protein content (GPC) locus on barley chromosome 6 strongly influences the timing of post-anthesis flag leaf senescence, with high-GPC germplasm senescing early. Here, it is shown that the presence of high-GPC allele(s) at this locus also accelerates pre-anthesis plant development. While floral transition at the shoot apical meristem (SAM; determined by the presence of double ridges) occurred simultaneously, subsequent development was faster in the high- than in the low-GPC line, and anthesis occurred on average 5 d earlier. Similarly, sequential (pre-anthesis) leaf senescence was slightly accelerated, but only after differences in SAM development became visible. Leaf expression levels of four candidate genes (from a list of genes differentially regulated in post-anthesis flag leaves) were much higher in the high-GPC line even before faster development of the SAM became visible. One of these genes may be a functional homologue of Arabidopsis glycine-rich RNA-binding protein 7, which has previously been implicated in the promotion of flowering. Together, the data establish that the GPC locus influences pre- and post-anthesis barley development and senescence, and set the stage for a more detailed analysis of the interactions between the molecular networks controlling these important life history traits

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

IntroductionSLC6A1 is one of the most common monogenic causes of epilepsy and is a well-established cause of neurodevelopmental disorders. SLC6A1-neurodevelopmental disorders have a consistent phenotype of mild to severe intellectual disability (ID), epilepsy, language delay and behavioral disorders. This phenotypic description is mainly based on knowledge from the pediatric population.MethodHere, we sought to describe patients with SLC6A1 variants and age above 18 years through the ascertainment of published and unpublished patients. Unpublished patients were ascertained through international collaborations, while previously published patients were collected through a literature search.ResultsA total of 15 adult patients with SLC6A1 variants were included. 9/13 patients had moderate to severe ID (data not available in two). Epilepsy was prevalent (11/15) with seizure types such as absence, myoclonic, atonic, and tonic–clonic seizures. Epilepsy was refractory in 7/11, while four patients were seizure free with lamotrigine, valproate, or lamotrigine in combination with valproate. Language development was severely impaired in five patients. Behavioral disorders were reported in and mainly consisted of autism spectrum disorders and aggressive behavior. Schizophrenia was not reported in any of the patients.DiscussionThe phenotype displayed in the adult patients presented here resembled that of the pediatric cohort with ID, epilepsy, and behavioral disturbances, indicating that the phenotype of SLC6A1-NDD is consistent over time. Seizures were refractory in >60% of the patients with epilepsy, indicating the lack of targeted treatment in SLC6A1-NDDs. With increased focus on repurposing drugs and on the development of new treatments, hope is that the outlook reflected here will change over time. ID appeared to be more severe in the adult patients, albeit this might reflect a recruitment bias, where only patients seen in specialized centers were included or it might be a feature of the natural history of SLC6A1-NDDs. This issue warrants to be explored in further studies in larger cohorts