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.     

The Care and Development of Children Living in Contexts of Poverty

Human development is determined by both genetic and environmental factors, especially during early childhood. Recently, research has indicated that the circumstances surrounding poverty can significantly influence children’s development. In this study, we aimed to measure the developmental level of children living in low-income, rural areas in northern Colombia. A total of 629 children (aged 0–5 years) were assessed using the Battelle Developmental Inventory. Results indicated that 17?% of the participants had a general developmental delay for their age group. This was especially true for scores on cognitive development (35.5?%) and communication (21.5?%). Moreover, the number of children with developmental delay increased at 6 months of age and continued to increase after 1 year in the communication and cognitive domains. The findings of this study suggest that impoverished social contexts—such as the one studied herein—offer opportunities that favor the development of the social domain, but restrict the development of the cognitive domain. Therefore, to promote cognitive development, individuals within children’s environment need to actively and intentionally stimulate them. Thus, there is a need for interventions that will improve environmental conditions; especially those that will help parents improve their caregiving practices and train educational staff to recognize and respond to the stimulation needs of children, especially those developmental domains that are affected by the environment.     

Choice biases in no-sample and delay testing in pigeons (Columba livia)

Animal Cognition - In experimental tasks that involve stimuli that vary along a quantitative continuum, some choice biases are commonly found. Take, for instance, a matching-to-sample task where...     

Countering Deficits: A Grounded Theory of Success From Graduate Students of Color

The existing research on students of color in counselor education focuses on the barriers they experience, providing a deficit perspective. Using grounded theory and a critical race theory framework, we studied the racialized experiences of 19 graduate students of color in counselor education. Grounded in participants' voices, we propose a liberatory theory of academic success. Implications for promoting the success of students of color in counselor education and for future critical race theory research are discussed. Las investigaciones hasta la fecha sobre estudiantes de color en programas educativos de consejería se centran en las barreras que afrontan, lo cual ofrece un déficit de perspectiva. Usando un muestreo teórico y un marco de teoría crítica de la raza, estudiamos las experiencias racializadas de 19 estudiantes de posgrado de color en programas educativos de consejería. Basándonos en las voces de los participantes, proponemos una teoría liberatoria de éxito académico. Se discuten las implicaciones para fomentar el éxito de estudiantes de color en programas educativos de consejería y para investigaciones futuras de teoría crítica de la raza.     

When Being “Essential” Illuminates Disparities: Counseling Clients Affected by COVID‐19

The 2019 novel coronavirus (COVID‐19) has highlighted social disparities in the United States. This article examines how preexisting racial and ethnic disparities, exacerbated by COVID‐19, have negatively affected communities of color that tend to be overrepresented in lower socioeconomic groups, have limited access to health care and education, have an undocumented status, and work in jobs considered “essential.” Counselors are encouraged to use creative strategies to design and facilitate telecounseling and reduced‐ or no‐cost workshops in which attendees can participate safely. Specific cultural considerations, aspects of crisis management, and creative interventions that can be used with clients of color at an appropriate social distance are discussed. Counselors can also instill hope in their clients by promoting sociopolitical development. As the impact of COVID‐19 will be felt for years, it is crucial that counselors be prepared to address the needs of those disproportionately affected.     

Exploring the Repeated Name Penalty and the Overt Pronoun Penalty in Spanish

Anaphoric expressions such as repeated names, overt pronouns, and null pronouns serve a major role in the creation and maintenance of discourse coherence. The felicitous use of an anaphoric expression is highly dependent on the discourse salience of the entity introduced by the antecedent. Gordon et al. (Cogn Sci 17:311–347, 1993) showed that, in English, sentences containing repeated names were read more slowly than corresponding sentences containing pronouns when the antecedent of the anaphoric expression was the subject of the previous sentence. This effect was dubbed the Repeated Name Penalty (RNP), and it was further found that this processing delay is eliminated if the antecedent of the anaphoric expression is the object of the previous sentence. The RNP was later extended to Mandarin Chinese (Yang et al. in Lang Cogn Process 14:715–743, 1999) and to Spanish (Gelormini-Lezama and Almor in Lang Cogn Process 26(3):437–454, 2011), which suggests that this might be a universal phenomenon. Moreover, the Spanish results showed an additional effect: sentences containing overt pronouns were read more slowly than corresponding sentences containing null pronouns when the antecedent of the anaphoric expression was the subject of the previous sentence. This effect was dubbed the Overt Pronoun Penalty (OPP) and, like the original RNP, the effect is also eliminated if the antecedent is in object position (Gelormini-Lezama and Almor 2011; Gordon et al. 1993). The similarity of the RNP and the OPP in Spanish suggests that these two processing phenomena might be caused by the same underlying principles. This paper is a critical review of the literature on these processing delays in Spanish and an attempt to integrate the data in a unified framework. Specifically, and following pragmatic explanations like the Informational Load Hypothesis (Almor in Psychol Rev 106:748–765, 1999), the RNP and OPP in Spanish can be understood as superficial manifestations of an imbalance between processing cost and discourse function.     

The multiple-stimulus-without-replacement preference assessment tool and its predictive validity

This study demonstrates the use of two web-based programs, one to identify video preferences and the other to assess their reinforcing effects. We used the Multiple-Stimulus-Without-Replacement Preference Assessment Tool (MSWO PAT) to identify the video preference hierarchies of seven participants, ages 4–11 years old. We then used a customized reinforcer assessment program that arranged a concurrent-chains preparation with programmed conjugate schedules of reinforcement. Button presses emitted by participants modulated the quality (volume and opacity) of selected videos on a moment-to-moment basis, allowing us to identify the reinforcing effects of the videos in little time. The results showed that the preference assessment had predictive value for five of seven participants. We discuss the MSWO PAT, parameters that may affect the identification of preferences and the use of conjugate schedules to identify reinforcers.     

Choices and preferences: Evidence from implicit choices and response times

We present a new experimental paradigm where choice-induced preference change is measured for alternatives which are never compared directly, but rather confronted with other alternatives in a way which keeps choices predictable without exogenously manipulating them. This implicit-choice design improves on the free-choice paradigm, avoiding the recently criticized selection bias. Rating and ranking spreads in two experiments show that preference-based choices feed back into and alter preferences even if choices are not directly among similarly evaluated alternatives. In agreement with recent brain-imaging evidence, response time measurements for direct choice pairs in our experiments indicate that reappraisal processes are already triggered during decision making, with larger post-choice spreads (sharper attitude change) being associated to quicker decisions.     

Semiorders with separability properties

We analyze different separability conditions that characterize the numerical representability of semiorders through a real-valued function and a strictly positive threshold. Any necessary and sufficient condition for the numerical representability of an interval order by means of two real-valued functions is proved to also characterize the Scott–Suppes representability of semiorders provided that a key additional condition of regularity with respect to sequences holds.