Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline

Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.     

The affective consequences of cognitive inhibition: devaluation or neutralization?

Affective evaluations of previously ignored visual stimuli are more negative than those of novel items or prior targets of attention or response. This has been taken as evidence that inhibition has negative affective consequences. But inhibition could act instead to attenuate or "neutralize" preexisting affective salience, predicting opposite effects for stimuli that were initially positive or negative in valence. We tested this hypothesis by presenting trustworthy and untrustworthy faces (Experiment 1), strongly positive and negative photographs (Experiment 2), and monetary gain- and loss-associated patterns (Experiment 3) in a Go/No-Go task and assessing subsequent affective ratings. Evaluations of prior No-Go (inhibited) stimuli were more negative than of prior Go (noninhibited) stimuli, regardless of a priori affective valence. Ratings of No-Go stimuli also became increasingly negative (vs. increasingly neutral) when preexisting salience was increased via stimulus repetition (Experiment 4). Our results suggest inhibition leads to affective devaluation, not affective neutralization.     

Memories of uncertain origin: dreamt or real?

The existence of a memory whose origin, real or dreamt, was uncertain was reported by just over half of an undergraduate sample of 358. Each respondent described one such memory if they had one. The memories were typically of mundane events, although 10 respondents described possible crimes. Respondents were often concerned to resolve the origin of these memories. Their plausibility, vividness, and how well the events fitted into one's life were often considered by the respondents, but where resolution occurred it was frequently based on evidence obtained from the physical or social environment. The reported qualities of the event did not correlate with whether the respondent thought it more likely to have been originally a dream or a real event.     

Etiological Contributions to the Covariation Between Children’s Perceptions of Inter-Parental Conflict and Child Behavioral Problems

Prior work has suggested that inter-parental conflict likely plays an etiological role in child behavior problems. However, family-level measurement of inter-parental conflict in most traditional child twin studies has made it difficult to tease apart the specific causal mechanisms underlying this association. The Children’s Perception of Inter-parental Conflict scale (CPIC) provides a child-specific measurement tool for examining these questions, as its subscales tap multiple dimensions of conflict assessed from the child’s (rather than the parent’s) perspective. The current study examined (1) the degree of genetic and environmental influence on each of the CPIC subscales, and (2) etiological contributions to the covariation between the CPIC scales and parental reports of child behavioral problems. The CPIC was completed by 1,200 child twins (aged 6–11 years) from the Michigan State University Twin Registry (MSUTR). Parents completed the Child Behavior Checklist (CBCL) to assess child internalizing and externalizing behavior problems. Multivariate models were examined to evaluate the relative contributions of genetic and environmental factors to both the CPIC scales and to their overlap with child behavioral outcomes. Modeling results indicated no significant moderation of sex or age. Significant environmental overlap emerged between the CPIC conflict properties scale and child internalizing and externalizing problems. By contrast, significant genetic correlations emerged between the CPIC self-blame scale and externalizing problems as well as between the CPIC threat scale and internalizing problems. Overall, findings suggest that the subscales of the CPIC are somewhat etiologically diverse and may provide a useful tool for future investigations of possible gene-environment interplay.     

Ambiguous emotion recognition in temporal lobe epilepsy: The role of expression intensity

The lateralization of emotion processing is currently debated and may be further explored by examining facial expression recognition (FER) impairments in temporal lobe epilepsy (TLE). Furthermore, there is also debate in the literature whether FER deficits in individuals with TLE are more pronounced in the right than in the left hemisphere. Individuals with TLE were tested with an FER task designed to be more sensitive than those classically used to shed light on this issue. A total of 25 right- and 32 left-TLE patients, candidates for surgery, along with controls, underwent an FER task composed of stimuli shown not only at full-blown intensities (100 %), but also morphed to lower-intensity display levels (35 %, 50 %, and 75 %). The results showed that, as compared to controls, right-TLE patients showed deficits in the recognition of all emotional categories. Furthermore, when considering valence, right-TLE patients were impaired only in negative emotion recognition, but no deficits for positive emotions were highlighted in left-TLE patients. Finally, only the right-TLE patients’ impairment was found to be related to the age of epilepsy onset. Our work demonstrates that the FER deficits in TLE span multiple emotional categories and show manifestations dependent on the laterality of the epileptic focus. Taken together, our findings provide the strongest evidence for the right-hemisphere model, but they also partially support the valence model. We suggest that current models are not exhaustive at explaining emotional-processing cerebral control, and further that multistep models should be developed.     

When facial attractiveness is only skin deep

Whilst the relationship between aspects of facial shape and attractiveness has been extensively studied, few studies have investigated which characteristics of the surface of faces positively influence attractiveness judgments. As many researchers have proposed a link between attractiveness and traits that appear healthy, apparent health of facial skin might be a property of the surface of faces that positively influences attractiveness judgments. In experiment 1 we tested for a positive correlation between ratings of the apparent health of small skin patches (extracted from the left and right cheeks of digital face images) and ratings of the attractiveness of male faces. By using computer-graphics faces, in experiment 2 we aimed to establish if apparent health of skin influences male facial attractiveness independently of shape information. Results suggest that apparent health of facial skin is correlated both with ratings of male facial attractiveness (experiment 1) and with being a visual cue for judgments of the attractiveness of male faces (experiment 2). These findings underline the importance of controlling for the influence of visible skin condition in studies of facial attractiveness and are consistent with the proposal that attractive physical traits are those that positively influence others' perceptions of an individual's health.     

Taking breaks from work: an exploratory inquiry

Two studies concerned with taking breaks from either mental or physical work are presented. In the first study, a questionnaire was given to 101 students in which they answered questions about their own break taking and that of others. They also completed a time management questionnaire and scales about procrastination, self-esteem, and work overload. In the second study, 17 students kept detailed diaries of their daily break-taking behavior over a 6-week period. Results are discussed in terms of the types of reasons given for taking breaks and the possible discrepancies between such reasons and the actual activities engaged in during breaks.     

Surface form typicality and asymmetric transfer in episodic memory for spoken words

A series of experiments was conducted to determine whether the typicality of the surface form of speech would affect memory retention of spoken words. For each surface characteristic studied, a continuous-recognition-memory task was used in which listeners based recognition judgments on word identity alone. For "typical" items, repetition benefits did not depend on whether the surface forms of the 1st and 2nd occurrences matched or mismatched. For "atypical" items, a larger repetition benefit occurred when the surface forms of the 2 occurrences matched. These results suggest that episodic memory for spoken words may be directly related to the perceived typicality of particular surface characteristics.     

Why Are We Reluctant to Sell Friendship?1

There are a number of indicators that people try to keep money out of social relationships, and a number of reasons why such separation might occur: undermining of intrinsic motivation, contamination of signals of friendship, and the apparently irrational tainting influence of money. Two experiments in which psychology students participated in brief conversations under various payment conditions found little evidence for payment adversely affecting the social interactions. A third study comparing a service group (hairdressers) that has considerable social interaction with its customers and a control group indicated that the former did not suffer any undermining of normal social motivation. Overall, the findings suggest that the separation of money from social relationships may not have a rational foundation.