Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome

Next generation sequencing (NGS) gene panels are increasingly used in medical genetics clinics for the evaluation of common inherited cancer syndromes, but the clinical efficacy of these tests, and the factors driving clinical providers to order them are unclear. We conducted a patterns-of-care study to compare patients evaluated with NGS gene panels with a reference group. We abstracted demographic, socioeconomic, and clinical information in a retrospective cohort of patients referred to a large medical genetics clinic for evaluation of inherited colorectal cancer and polyposis syndromes. Patients tested with NGS gene panels were more likely to be insured compared to the reference group (85.3 % vs. 69.2 %, p = 0.0068),less likely to have prior tumor tissue testing (29.4 % vs. 54.3 %, p = 0.0004), and less likely to have an abnormal tumor tissue test result (46.7 % vs. 74.5 %, p = 0.01). No significant differences were found between groups in age, gender, race, employment status, personal history of colorectal cancer, or proportion of patients fulfilling Lynch syndrome clinical criteria. Patients with NGS testing were less likely to have a pathogenic/likely pathogenic variant detected (13.7 % vs. 31.9 %, p = 0.002). Patients referred for NGS testing to evaluate inherited colorectal cancer/polyposis risk appear to undergo tumor tissue testing less frequently than non-NGS testing patients. Further studies are needed to assess the most effective and cost-effective approach to genomic diagnosis in this patient population.     

Burnout,compassion fatigue and compassion satisfaction among nurses in the context of maternal and perinatal deaths

This study investigated the prevalence and levels of burnout, compassion fatigue and compassion satisfaction among nurses with exposure to maternal and perinatal deaths. A convenience sample of 83 nurses was selected for participation from six hospitals in Limpopo province, South Africa, comprising 98% females with an age range of 21 to 62 years, and 15 to 18 mean years of experience in maternal and perinatal care. The nurses completed the Professional Quality of Life Scale (ProQOL R-IV), which is a measure of burnout, compassion fatigue and compassion satisfaction. The analysis examined the prevalence and level of burnout, compassion fatigue and compassion satisfaction among the nurses. Most of the respondents (92%) reported with moderate burnout scores, and about 67% reported with moderate to high compassion fatigue scores, whilst 82% reported with compassion satisfaction scores. Moderate levels of high burnout and compassion fatigue can co-occur with relatively high compassion satisfaction among nurses in critical-care health services.     

Effects of a Private Room Versus Group Setting on Math Test Performance of College Students with ADHD

The effects of (a) private room, (b) typical classroom, and (c) high-distraction room test settings were examined on the math test performance of six college students (four females) with ADHD. Participants (aged 18–30 years) completed multiple, equivalent algebra calculation tests (100 items each) under the three test-setting conditions. A multi-element design was used to compare the number of items attempted (test access) and percentage correct (accuracy). Students also rated their level of distraction after each testing session on a Likert-type scale. Results showed that students found the high-distraction setting more distracting than other settings and that five of six students accessed more test items in the private room versus the high-distraction setting, with three of the six demonstrating nonoverlapping data across settings. A regular classroom setting did not produce a high level of distraction, nor did it restrict student access to the math tests relative to a private room setting. These findings suggest that some students with ADHD are affected negatively by highly distracting environments and may benefit from a quiet, private test setting. Single-case experimental designs may be useful for examining individual differences among students with disabilities receiving specific test accommodations.

     

Conditional Learning Deficits in Children with ADHD can be Reduced Through Reward Optimization and Response-Specific Reinforcement

Research on Child and Adolescent Psychopathology - When children with ADHD are presented with behavioral choices, they struggle more than Typically Developing [TD] children to take into account...     

Cost Analysis of Integrated Behavioral Health in a Large Primary Care Practice

A residency-based Family Medicine outpatient clinic chose to implement an integrated behavioral health care program in a large primary care clinic in the Southeast to improve patient access to behavioral health care. We hypothesized that embedding a BHP in a primary care setting would be a cost neutral intervention. We implemented a prospective cohort design and included expenses from both inpatient and outpatient visits. We implemented a mixed effects linear regression model to evaluate pre- and post-BHP exposure costs. A total of 1256 patients were identified in the post-BHP exposure period that had more than one-year post-exposure. After applying exclusion criteria, there were 926 patients included in analysis. These patient had an average total cost during the one-year pre-BHP exposure period of $5113 (SD = 7712) and one-year post-BHP exposure period of $5462 (SD = 7813). Our analysis shows a relatively cost neutral impact following the introduction of BHPs in a primary care setting. The results of this study provide a gauge for future planning of services.

     

Pregnancy, thirdness, and the aesthetics of catastrophe in Heinrich von Kleist

In documenting his own personal crisis of faith in Enlightenment rationalism through letters and essays, Kleist exposes the epistemological fissures in its edifice. This paper explores in psychoanalytic terms the dilemmas associated with knowing and not knowing, and the relationship between self and other, revealed by these texts. Kleist's literary work goes beyond expressing this crisis of knowledge to enact a kind of solution to it, not resolving the contradictions that are central in his world but presenting them aesthetically, intact and precariously balanced. More specifically, a pregnancy conceived without the knowledge of the mother-to-be--in his novella "The Marquise of O" (1807a)--suggests a modification of the psychoanalytic third to include within it the catastrophe that it also mitigates.     

Use of a driving simulator to assess performance under adverse weather conditions in adults with albinism

Participants with albinism have reduced vision and nystagmus with reduced foveation times. This prospective study evaluated driving in 12 participants with albinism and 12 matched controls. Participants drove a vehicle simulator through a virtual rural course in sunny and foggy conditions. Under sunny conditions, participants with albinism showed a narrower preferred minimum safety boundary during car-following tasks than did controls, but there was no difference under foggy conditions. Their driving did not differ significantly from that of controls when approaching a stop sign or when choosing gap size between oncoming vehicles when crossing an intersection. However, when compared to control drivers, participants with albinism had a decreased minimum safety boundary for car-following that should be included in counseling regarding driving safety.     

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants’ desire “to be a mother” and the importance they placed on this role. Enactment focused on the participants’ views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants’ knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.