Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Psychometric Study of the Child and Adolescent Functional Assessment Scale: Prediction of Contact with the Law and Poor School Attendance

The predictive validity of the Child and Adolescent Functional Assessment Scale (CAFAS) is investigated using the data set generated by the national evaluation of the demonstration service grants funded by the Center for Mental Health Services. Logistic regressions were performed separately for contact with the law and poor school attendance, which were both assessed at 6 months postintake. Other variables included in the model besides the CAFAS total score at intake were age, gender, and family risk factors. The results show that the CAFAS total score at intake was a positive predictor of the likelihood of contact with the law and poor school attendance, even after controlling for age, gender, and risk factors. Furthermore, the CAFAS total score was predictive even after excluding scores on CAFAS subscales, which may have been influenced by absenteeism or delinquency. These findings are consistent with recent research indicating that the CAFAS predicts recidivism in juvenile delinquents.This research was conducted while the author was a Research Associate at the Population Studies Center, University of Michigan, Ann Arbor, MI     

Exposure to benevolent sexism and complementary gender stereotypes: consequences for specific and diffuse forms of system justification

Many have suggested that complementary gender stereotypes of men as agentic (but not communal) and women as communal (but not agentic) serve to increase system justification, but direct experimental support has been lacking. The authors exposed people to specific types of gender-related beliefs and subsequently asked them to complete measures of gender-specific or diffuse system justification. In Studies 1 and 2, activating (a) communal or complementary (communal + agentic) gender stereotypes or (b) benevolent or complementary (benevolent + hostile) sexist items increased support for the status quo among women. In Study 3, activating stereotypes of men as agentic also increased system justification among men and women, but only when women's characteristics were associated with higher status. Results suggest that complementary stereotypes psychologically offset the one-sided advantage of any single group and contribute to an image of society in which everyone benefits through a balanced dispersion of benefits.     

Perceptions of Dating Violence Following a Sexualor Nonsexual Betrayal of Trust: Effects of Gender, Sexism, Acceptance of Rape Myths, and Vengeance Motivation

College womens (N = 220) and mens (N = 208) perceptions of violence following a betrayal by a romantic partner were studied in an independent groups design that varied gender of the participant, type of betrayal (sexual or nonsexual), and gender of the betrayed individual. Participants read one of four brief vignettes in which the betrayed person slapped his/her partner and made his/her lip bleed. Justification of this action was rated on 10 items. Factor analysis of these items indicated the presence of three factors for men and four for women. Both men and women indicated that hitting the partner, getting even, and being angry were more justifiable following a sexual betrayal. The hitting of a male partner by a betrayed woman was perceived as more justified than the hitting of a female partner by a betrayed man. In absolute terms, hitting and getting even by both women and men were generally viewed as unjustifiable, whereas being angry was viewed as justifiable. For both women and men, scores on the Vengeance Scale (Stuckless & Goranson, 1992) and Rape Myth Acceptance Scale (Lonsway & Fitzgerald, 1995) were related to getting even. For men, the Hostile Sexism Scale (Glick & Fiske, 2001) was related to getting even or being angry and breaking up. Results indicated that perceptions of reactions to betrayal are related to type of betrayal and to the dispositional characteristics of the perceiver.     

Chimpanzee (Pan troglodytes) intentional communication is not contingent upon food

Studies of great apes have revealed that they use manual gestures and other signals to communicate about distal objects. There is also evidence that chimpanzees modify the types of communicative signals they use depending on the attentional state of a human communicative partner. The majority of previous studies have involved chimpanzees requesting food items from a human experimenter. Here, these same communicative behaviors are reported in chimpanzees requesting a tool from a human observer. In this study, captive chimpanzees were found to gesture, vocalize, and display more often when the experimenter had a tool than when she did not. It was also found that chimpanzees responded differentially based on the attentional state of a human experimenter, and when given the wrong tool persisted in their communicative efforts. Implications for the referential and intentional nature of chimpanzee communicative signaling are discussed.     

On the contribution of perceptual fluency and priming to recognition memory

Repetition priming has been shown to be independent of recognition memory. Thus, the severely amnesic patient E.P. has demonstrated intact stem completion priming and perceptual identification priming, despite at-chance performance on recognition memory tasks. It has also been shown that perceptual fluency can influence feelings of familiarity, in the sense that items perceived more quickly tend to be identified as familiar. If studied items are identified more fluently, due to perceptual priming, and fluency leads to familiarity, why do severely amnesic patients perform no better than chance on recognition memory tasks? One possibility is that severely amnesic patients do not exhibit normal fluency. Another possibility is that fluency is not a sufficiently strong cue for familiarity. In two experiments, 2 severely amnesic patients, 3 moderately amnesic patients, and 8 controls saw words slowly clearing from a mask. The participants identified each word as quickly as possible and then made a recognition (old/new) judgment. All the participants exhibited fluency, in that old responses were associated with shorter identification times than new responses were. In addition, for the severely amnesic patients, priming was intact, and recognition memory performance was at chance. We next calculated how much priming and fluency should elevate the probability of accurate recognition. The tendency to identify studied words rapidly (.6) and the tendency to label these rapidly identified words old (.6) would result in 36% of the studied words being labeled old. Other studied words were identified slowly (.4) but were still labeled old (.4), resulting in an additional 16% of studied words labeled old. Thus, the presence of fluency increases the probability of accurate recognition judgments to only 52% (chance = 50%). This finding explains why amnesic patients can exhibit both priming and fluency yet still perform at chance on recognition tests.     

On broadening the cognitive, motivational, and sociostructural scope of theorizing about gender development and functioning: comment on Martin, Ruble, and Szkrybalo (2002)

In their article on gender development, C. L. Martin, D. N. Ruble, and J. Szkrybalo (see record 2002-18663-003) contrasted their conception of gender development with that of social cognitive theory. The authors of this commentary correct misrepresentations of social cognitive theory and analyze the conceptual and empirical status of Martin et al.'s (2002) theory that gender stereotype matching is the main motivating force of gender development. Martin et al. (2002) based their claim for the causal primacy of gender self-categorization on construal of gender discrimination as rudimentary self-identity, equivocal empirical evidence, and dismissal of discordant evidence because of methodological deficiencies. The repeated finding that gendered preferences and behavior precede emergence of a sense of self is discordant with their theory. Different lines of evidence confirm that gender development and functioning are socially situated, richly contextualized, and conditionally manifested rather than governed mainly by an intrinsic drive to match stereotypic gender self-conception.