Predictive Genetic Testing in Children: Constitutional Mismatch Repair Deficiency Cancer Predisposing Syndrome

Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.     

Categorical congruence facilitates multisensory associative learning

Learning about objects often requires making arbitrary associations among multisensory properties, such as the taste and appearance of a food or the face and voice of a person. However, the multisensory properties of individual objects usually are statistically constrained, such that some properties are more likely to co-occur than others, on the basis of their category. For example, male faces are more likely to co-occur with characteristically male voices than with female voices. Here, we report evidence that these natural multisensory statistics play a critical role in the learning of novel, arbitrary associative pairs. In Experiment 1, we found that learning of pairs consisting of human voices and gender-congruent faces was superior to learning of pairs consisting of human voices and gender-incongruent faces or of pairs consisting of human voices and pictures of inanimate objects (plants and rocks). In Experiment 2, we found that this “categorical congruency” advantage extended to nonhuman stimuli, as well—namely, to pairs of class-congruent animal pictures and vocalizations (e.g., dogs and barks) versus class-incongruent pairs (e.g., dogs and bird chirps). These findings suggest that associating multisensory properties that are statistically consistent with the various objects that we encounter in our daily lives is a privileged form of learning.     

Religion and Spirituality among American Indian,South Asian,Black, Hispanic/Latina,and White Women in the Study on Stress,Spirituality, and Health

Social scientists have increasingly recognized the lack of diversity in survey research on American religion, resulting in a dearth of data on religion and spirituality (R/S) in understudied racial and ethnic groups. At the same time, epidemiological studies have increasingly diversified their racial and ethnic representation, but have collected few R/S measures to date. With a particular focus on American Indian and South Asian women (in addition to Blacks, Hispanic/Latinas, and white women), this study introduces a new effort among religion and epidemiology researchers, the Study on Stress, Spirituality, and Health. This multicohort study provides some of the first estimates of R/S beliefs and practices among American Indians and U.S. South Asians, and offers new insight into salient beliefs and practices of diverse racial/ethnic and religious communities.     

Understanding culture across species

Recent claims of culture in great apes have provoked fervent argument about the 'true' definition of culture, most of which has been unhelpful. Instead, a range of definitions should be used to explore different aspects of the cognitive processes that together result in human culture, many of which can be productively studied in non-humans. A richer cognitive account of the contents of culture needs to be developed and used to compare animal and human cultures, instead of sterile searching for a cognitive Rubicon between them. Exploring six views of culture, this article highlights the fundamental contrast of whether culture evolves as a by-product of cumulative change in cognitive mechanisms, or whether it is actively selected for its advantages.     

The validation of an active control intervention for Mindfulness Based Stress Reduction (MBSR)

Most of the extant literature investigating the health effects of mindfulness interventions relies on wait-list control comparisons. The current article specifies and validates an active control condition, the Health Enhancement Program (HEP), thus providing the foundation necessary for rigorous investigations of the relative efficacy of Mindfulness Based Stress Reduction (MBSR) and for testing mindfulness as an active ingredient. 63 participants were randomized to either MBSR (n = 31) or HEP (n = 32). Compared to HEP, MBSR led to reductions in thermal pain ratings in the mindfulness- but not the HEP-related instruction condition (η² = .18). There were significant improvements over time for general distress (η² = .09), anxiety (η² = .08), hostility (η² = .07), and medical symptoms (η² = .14), but no effects of intervention. Practice was not related to change. HEP is an active control condition for MBSR while remaining inert to mindfulness. These claims are supported by results from a pain task. Participant-reported outcomes (PROs) replicate previous improvements to well-being in MBSR, but indicate that MBSR is no more effective than a rigorous active control in improving these indices. These results emphasize the importance of using an active control condition like HEP in studies evaluating the effectiveness of MBSR.     

Does learning to count involve a semantic induction?

We tested the hypothesis that, when children learn to correctly count sets, they make a semantic induction about the meanings of their number words. We tested the logical understanding of number words in 84 children that were classified as "cardinal-principle knowers" by the criteria set forth by Wynn (1992). Results show that these children often do not know (1) which of two numbers in their count list denotes a greater quantity, and (2) that the difference between successive numbers in their count list is 1. Among counters, these abilities are predicted by the highest number to which they can count and their ability to estimate set sizes. Also, children's knowledge of the principles appears to be initially item-specific rather than general to all number words, and is most robust for very small numbers (e.g., 5) compared to larger numbers (e.g., 25), even among children who can count much higher (e.g., above 30). In light of these findings, we conclude that there is little evidence to support the hypothesis that becoming a cardinal-principle knower involves a semantic induction over all items in a child's count list.     

A focused intervention for 1st-year college students: promoting hope, sense of coherence, and self-efficacy

Many students experience elevated psychological distress during their 1st year at college. Within the salutogenic paradigm (A. Antonovsky, 1987), sense of coherence (SOC), self-efficacy, and hope (in terms of hope theory; C. R. Snyder, 2002) are considered as protective factors in the demanding academic system. Study goals were to examine the outcomes of a focused workshop for 43 students, targeting the promotion of hope, sense of coherence, and self-efficacy for enhancing students' academic adjustment as expressed through their grades. Results revealed an effect over the 3 measurement time-points (before the workshop, immediately after it, and after 1 month), as well as the interactions of time and hope levels. Although their mean grades were not statistically different before the intervention, students who achieved higher levels of hope following the workshop got higher grades in the semester following the intervention. SOC and self-efficacy scores were significantly related both to hope levels after 1 month and to mean grades. The implications of this study for promoting a hopeful orientation in educational systems are discussed, and future interventional research is suggested.     

Competitiveness across the life span: the feisty fifties

Existing theories on life span changes in confidence or motivation suggest that individuals' preferences to enter competitive situations should gradually decline with age. We examined competitive preferences in a field experiment using real financial stakes in 25- to 75-year-olds (N = 543). The critical dependent variable was whether participants chose to perform a simple mental arithmetic task either under a piece-rate payment schedule (i.e., $.25 per solved item) or a competitive payment schedule ($.50 per solved item if the overall score is better than that of a randomly selected opponent, $0 otherwise). Results revealed that competitive preferences increased across the life span until they peaked around age 50, and dropped thereafter. We also found that throughout, men had a substantially larger preference for competing than women-extending previous findings on college-aged participants. The age/gender differences in preferences were neither accounted for by actual differences in performance nor individuals' subjective confidence. This first systematic attempt to characterize age differences in competitive behavior suggests that a simple decline conception of competitiveness needs to be reconsidered.