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.     

Learning directions of objects specified by vision,spatial audition,or auditory spatial language

The modality by which object azimuths (directions) are presented affects learning of multiple locations. In Experiment 1, participants learned sets of three and five object azimuths specified by a visual virtual environment, spatial audition (3D sound), or auditory spatial language. Five azimuths were learned faster when specified by spatial modalities (vision, audition) than by language. Experiment 2 equated the modalities for proprioceptive cues and eliminated spatial cues unique to vision (optic flow) and audition (differential binaural signals). There remained a learning disadvantage for spatial language. We attribute this result to the cost of indirect processing from words to spatial representations.     

Memory retrieval by 18--30-month-olds: age-related changes in representational flexibility

Deferred imitation was used to trace changes in memory retrieval by 18-30-month-olds. In all experiments, an adult demonstrated 2 sets of actions using 2 different sets of stimuli. In Experiments 1A and 1B, independent groups of infants were tested immediately or after a 24-hr delay. Each infant was tested with 1 set of stimuli from the original demonstration and 1 set of stimuli that was different. Recall of the target actions when tested with different stimuli increased as a function of age, particularly after a delay. In Experiment 2, infants were provided with a unique verbal label for the stimuli during the demonstration and the test. The verbal label facilitated performance by 24-month-olds tested with different stimuli but had no effect on performance by 18-month-olds. One hallmark of memory development appears to be an age-related increase in the range of effective retrieval cues for a particular memory.     

A seven-decimal table of the area (a) under the unit normal curve,for abscissae expressed in terms ofP.E.

A seven-decimal table is presented of the area under the unit normal curve, for abscissae expressed in terms of the “probable error” orPE. From the method of calculation, the partial verification by means of other tables, and the safeguards taken in the routine of computation, it is safe to consider the table reliable. Errors in previously published tables are pointed out.     

Crystallization of desire and crystallization of discontent in narratives of life-changing decisions

Two studies of adults examined personal narratives of life-changing decisions in relation to personality and well-being. Participants whose decision narratives emphasized a crystallization of desire (i.e., approaching a desired future) rather than a crystallization of discontent (i.e., escaping an undesired past; Baumeister, 1991, 1994) reported higher well-being, fewer avoidance strivings, lower Neuroticism (in Study 1 only), and better decision outcomes (in Study 2). However, neither strivings, traits, nor outcomes accounted for the relationship between crystallization of desire and well-being. The discussion considers the roles of life-changing decisions and personal narratives in research on personality, well-being, and positive personal development.     

Sex and generational differences in desired characteristics in mate selection

This study compared the ranking of 18 personal characteristics or qualities which college students might use in selecting a future mate and builds on six other assessment periods from 1939-1996 which dealt with this issue. Among the most consistent findings for all seven assessment periods is the high value both sexes place on dependable character, emotional stability/maturity, pleasing disposition, and mutual attraction/love. Men across all assessment periods placed a higher value than women on good health, good cook/housekeeper, and good looks, while women placed a higher value on ambitious/industrious, similar educational background, and good financial prospect. These trends could go along with ethological theory. For both sexes chastity and similar religious background gained value; however, this may be an artifact of the current sample of 100 students.