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.     

Bilingualism affects picture naming but not picture classification

Bilinguals named pictures in their dominant language more slowly (and with more errors) than did monolinguals. In contrast, bilinguals named the same pictures as quickly as did monolinguals on the fifth presentation (in Experiment 2) and classified them (as human made or natural) as quickly and accurately as did monolinguals (in Experiment 1). In addition, bilinguals retrieved English picture names more quickly if they knew the name in both Spanish and English (on the basis of a translation test that bilinguals completed after the timed tasks), and monolingual response times for the same materials suggested that this finding was not obtained simply because names that were easier to translate were easier in general. These findings suggest that bilinguals differ from monolinguals at a postconceptual processing level, that implicit activation of lexical representations in the nontarget language can facilitate retrieval in the target language, and that being bilingual is analogous to having a lexicon full of lower frequency words, relative to monolinguals.     

Speeded retrieval abolishes the false-memory suppression effect: Evidence for the distinctiveness heuristic

We examined two different accounts of why studying distinctive information reduces false memories within the DRM paradigm. The impoverished relational encoding account predicts that less memorial information, such as overall familiarity, is elicited by the critical lure after distinctive encoding than after nondistinctive encoding. By contrast, the distinctiveness heuristic predicts that participants use a deliberate retrieval strategy to withhold responding to the critical lures. This retrieval strategy refers to a decision rule whereby the absence of memory for expected distinctive information is taken as evidence for an event’s nonoccurrence. We show that the typical false-recognition suppression effect only occurs when the recognition test is self paced. This suppression effect is abolished when participants make recognition decisions under time pressure, such as within 1 second of seeing the test item. These results are consistent with the distinctiveness heuristic that a time-consuming retrieval strategy is used to reduce false-recognition responses.     

Structure and stimulus familiarity: a study of memory in chess-players with functional magnetic resonance imaging

A grandmaster and an international chess master were compared with a group of novices in a memory task with chess and non-chess stimuli, varying the structure and familiarity of the stimuli, while functional magnetic resonance images were acquired. The pattern of brain activity in the masters was different from that of the novices. Masters showed no differences in brain activity when different degrees of structure and familiarity where compared; however, novices did show differences in brain activity in such contrasts. The most important differences were found in the contrast of stimulus familiarity with chess positions. In this contrast, there was an extended brain activity in bilateral frontal areas such as the anterior cingulate and the superior, middle, and inferior frontal gyri; furthermore, posterior areas, such as posterior cingulate and cerebellum, showed great bilateral activation. These results strengthen the hypothesis that when performing a domain-specific task, experts activate different brain systems from that of novices. The use of the experts-versus-novices paradigm in brain imaging contributes towards the search for brain systems involved in cognitive processes.     

Pediatric do-not-attempt-resuscitation orders and public schools: a national assessment of policies and laws

Some children living with life-shortening medical conditions may wish to attend school without the threat of having resuscitation attempted in the event of cardiopulmonary arrest on the school premises. Despite recent attention to in-school do-not-attempt-resuscitation (DNAR) orders, no assessment of state laws or school policies has yet been made. We therefore sought to survey a national sample of prominent school districts and situate their policies in the context of relevant state laws. Most (80%) school districts sampled did not have policies, regulations, or protocols for dealing with student DNARs. A similar majority (76%) either would not honor student DNARs or were uncertain about whether they could. Frequent contradictions between school policies and state laws also exist. Consequently, children living with life-shortening conditions who have DNARs may not have these orders honored if cardiopulmonary arrest were to occur on school premises. Coordinated efforts are needed to harmonize school district, state, and federal approaches in order to support children and families' right to have important medical decisions honored.