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.     

Task demands and representation in long-term repetition priming

The effects of task demands on the representation of letter strings in long-term repetition priming (LTRP) were explored in two lexical decision experiments. The stimuli in both experiments were words and nonwords, some presented horizontally and some vertically. The only difference between the two experiments was the response required by the participant. In Experiment 1, the participants pressed one of two buttons, indicating whether or not a given stimulus was a word. In Experiment 2, the participants pressed one of four buttons, indicating both the lexical status and the orientation of a given stimulus. The results were that in Experiment 1, LTRP was not disrupted by a change in stimulus orientation, whereas in Experiment 2 it was, suggesting that the nature of the stimulus representation utilized in LTRP is partially dependent on the demands of the task.     

At-Risk for Diabetes: Coping with the News

This study assessed 37 children's and 38 adults', as well as their family members' (39 mothers and 26 spouses), coping responses to the news that they (or a loved one) were islet-cell antibody positive (ICA+) and at risk for type 1 diabetes. The Ways of Coping Checklist (WCC) was administered 4 months after ICA+ notification and at follow-up 10 months later. Participants' state anxiety was measured a few days after ICA+ notification and again 4 months later, at the time of the initial WCC administration. Children's coping strategies differed from those of adults, and mothers' coping strategies differed from spouses'. Initial state anxiety in response to ICA+ notification was related to how participants subsequently coped with the news. Coping, in turn, was related to maintenance of state anxiety over time.     

Self-appraised social problem solving abilities, emotional reactions and actual problem solving performance

Self-report measures of social problem solving abilities have yet to be associated with objective problem solving performance in any consistent manner. In the present study, we investigated the relation of social problem solving abilities--as measured by the Social Problem Solving Skills Inventory--Revised (SPSI-R [Maydeu-Olivares, A. & D'Zurilla, T. J. (1996). A factor analytic study of the Social Problem Solving Inventory: an integration of theory and data. Cognitive Therapy and Research, 20, 115-133])--to performance on a structured problem solving task. Unlike previous studies, we examined the relation of problem solving skills to performance curves observed in repeated trials, while controlling for affective reactions to each trial. Using hierarchical modeling techniques, a negative problem orientation was significantly predictive of performance and this effect was not mediated by negative affectivity. Results are discussed as they pertain to contemporary models of social problem solving.     

Cross-modal source monitoring confusions between perceived and imagined events

Two experiments tested the prediction based on the source monitoring framework that imagination is most likely to lead to false memories when related perceived events have occurred. Consistent with this, people were more likely to falsely remember seeing events when the events had been both imagined as seen and actually heard than when they were just heard, just visually imagined, or imagined both visually and auditorily. Furthermore, when people considered potential sources for memories or more carefully evaluated features of remembered events, source errors were reduced. On average, misattributed ("false") memories differed in phenomenal qualities from true memories. Taken together, these findings show that as different qualities of mental experience flexibly enter into source attributions, qualities derived from related perceptual events are particularly likely to lead to false claims that imagined events were seen, even when the event involves a primary modality (auditory) different from the target event (visual).     

Suicide among adolescents and young adults: a cross-national comparison of 34 countries

Few cross-national reports have examined suicide rates among adolescents and young adults. A survey of suicides among 15-24-year-olds in 34 of the wealthiest nations demonstrated that 15,555 youths killed themselves in a 1-year study period. Thirty-four percent of these suicides were firearm-related. Finland led the participating nations in total and firearm-related suicide rates. An association was found between divorce rates and youth suicide rates, firearm-related suicide among youths, and suicide rates among young males. For a smaller sample of countries, an association was found between firearm availability and firearm-related suicide rates among youths and suicide rates among young males.     

Attributional Style, Self-Esteem, and Human Immunodeficiency Virus: A Test of the Hopelessness and Self-Esteem Theories of Depression

Research on the hopelessness and self-esteem theories of depression (Abramson, Metalsky, & Alloy, 1989; Metalsky, Joiner, Hardin, & Abramson, 1993) suggests that HIV-infected persons with depressotypic attributional style (AS) and low self-esteem (SE) may be at risk for onset of a syndrome referred to as hopelessness depression (HD). In a prospective study conducted to test these theories, measures of anxiety and depression, AS, and SE were administered to 85 HIV+ and 43 HIV– men; symptoms were reassessed 6 months later. Results indicated that: (1) The interaction of AS, SE, and HIV status predicted change in HD symptoms, but not overall depression or anxiety symptoms; (2) HIV+ men with depressotypic AS and high SE had increased HD symptom levels while other men with high SE had decreased HD symptom levels; (3) HD symptoms remained stable over the 6-month interval among men with low SE; and (4) High SE predicted decreases in anxiety symptoms among HIV– men, but not among HIV+ men. Contrary to the study hypothesis, these findings suggest that among individuals with life-threatening illnesses such as HIV infection, those with depressotypic AS and high SE may be at highest risk for onset of HD.     

The emotional health of the clergy

Summary and conclusions The health we seek is creative growth through all the relationships of life. We need an elastic concept of health, with a capacity to accept limitations and to do our best with these limitations in creative efforts to keep growing.We need to be aware of the particular hazards in this vocation, which may endanger the emotional health of the clergyman. Seeing these more clearly we can better prepare to cope with them.We must know to whom we belong, and learn to be at home with those persons and groups who become our living, working, and reciprocal community of outgoing care and forgiving love.If we can see emotional health as a dynamic process of ever-growing outreach and integration, we will value the stresses of our life and work. The pains as well as the joys contribute to the challenge and fulfillment of persons who grow through creative encounter with other persons.Continuing education will be needed for this crucial vocation of ministering to others, as it is in every serving profession where the complexities of life are so baffling. Academic courses and library study, though needed, will not suffice to prepare for effective work with other persons in face-to-face relations. There will be constant need for supervised evaluation of what we are and seek to become to others in the critical moments of meeting, listening, and responding as person to person in the ultimate concerns of our life in community.He is also a member of the Academy.