Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was given and who primarily provided information to adolescent girls and young adult women in families with fragile X syndrome. We explored three levels of risk knowledge: learning that fragile X syndrome was an inherited disorder, that they could be a carrier, and for those who had been tested, actual carrier status. These data were collected as part of a study that also explored adolescent self concept and age preferences about when to inform about genetic risk. Those findings have been presented separately. The purpose of this paper is to present the communication data. Using a multi-group cross-sectional design this study focused on girls ages 14–25 years from families previously diagnosed with fragile X syndrome, 1) who knew they were carriers (n = 20), 2) noncarriers (n = 18), or 3) at-risk to be carriers (n = 15). For all three stages of information the majority of the study participants were informed by a family member. We identified three different communication styles: open, sought information, and indirect. The content of the remembered conversations varied based on the stage of genetic risk information being disclosed as well as the girls’ knowledge of her own carrier status. Girls who had been tested and knew their actual carrier status were more likely to report an open communication pattern than girls who knew only that they were at-risk.     

Pathway control in visual word processing: Converging evidence from recognition memory

The extent to which readers can exert strategic control over oral reading processes is a matter of debate. According to the pathway control hypothesis, the relative contributions of the lexical and nonlexical pathways can be modulated by the characteristics of the context stimuli being read, but an alternative time criterion model is also a viable explanation of past results. In Experiment 1, subjects named high- and low-frequency regular words in the context of either low-frequency exception words (e.g., pint) or nonwords (e.g., flirp). Frequency effects (faster pronunciation latencies for high-frequency words) were attenuated in the nonword context, consistent with the notion that nonwords emphasize the characteristics of the frequency-insensitive nonlexical pathway. Importantly, we also assessed memory for targets, and a similar attenuation of the frequency effect in recognition memory was observed in the nonword condition. Converging evidence was obtained in a second experiment in which a variable that was more sensitive to the nonlexical pathway (orthographic neighborhood size) was manipulated. The results indicated that both speeded pronunciation performance and memory performance were relatively attenuated in the low-frequency exception word context in comparision with the nonword context. The opposing influences of list context type for word frequency and orthographic neighborhood size effects in speeded pronunciation and memory performance provide strong support for the pathway control model, as opposed to the time criterion model.     

Distributional analyses in auditory lexical decision: Neighborhood density and word-frequency effects

In the present article, the effects of phonological neighborhood density and word frequency in spoken word recognition were examined using distributional analyses of response latencies in auditory lexical decision. A density × frequency interaction was observed in mean latencies; frequency effects were larger for low-density words than for high-density words. Distributional analyses further revealed that for low-density words, frequency effects were reflected in both distributional shifting and skewing, whereas for high-density words, frequency effects were purely mediated by distributional skewing. The results suggest that word frequency plays a role in early auditory word recognition only when there is relatively little competition between similar-sounding words, and that frequency effects in high-density words reflect postlexical checking.     

How True It Is = Who Says It’s True

This is a largely expository paper in which the following simple idea is pursued. Take the truth value of a formula to be the set of agents that accept the formula as true. This means we work with an arbitrary (finite) Boolean algebra as the truth value space. When this is properly formalized, complete modal tableau systems exist, and there are natural versions of bisimulations that behave well from an algebraic point of view. There remain significant problems concerning the proper formalization, in this context, of natural language statements, particularly those involving negative knowledge and common knowledge. A case study is presented which brings these problems to the fore. None of the basic material presented here is new to this paper—all has appeared in several papers over many years, by the present author and by others. Much of the development in the literature is more general than here—we have confined things to the Boolean case for simplicity and clarity. Most proofs are omitted, but several of the examples are new. The main virtue of the present paper is its coherent presentation of a systematic point of view—identify the truth value of a formula with the set of those who say the formula is true.     

Helplessness,stress level,and the coronary-prone behavior pattern

Two experiments were conducted to examine the relationship between stress level and learned helplessness in human subjects. Experiment I subjected subjects to loud or moderate noise in order to induce differential stress. Half of the subjects within each stress group were unable to escape from a series of noise bursts, whereas the other half could terminate each burst by manipulating appropriate switches. After the pretreatment series, the same noise was again delivered to subjects, all of whom could now escape or avoid noise by making an appropriate response on a shuttle box. Inescapable (helplessness) pretreatment interfered with escape learning in the second (test) phase of the study under both levels of stress. Experiment II was a partial replication of the first study using only loud noise. The interference effect during test trials was greater than in the first study. In addition to these findings, measures of a coronary-prone behavior pattern were related to differential susceptibility to the interference effect under both high stress and moderate stress conditions. These results were interpreted in terms of differing perceptions of threat imposed by lack of environmental control.     

Estimating item and order information

In a common psychological procedure, the subject is presented a sequence of items and is asked to recall them in order. His response is scored for items reported correctly in their correct position (position score) and for items reported correctly independently of position (item score). Such data are analyzed in terms of a model which assumes that a particular stimulus item may be forgotten entirely (State 0), may be remembered but without any knowledge of its position in the sequence, or may be remembered together with knowledge of its position (State 2). State 2 is related to the position score, and we define a nonexclusive State 1 (which contains all items not in State 0) that is related to the item score. In Part 1, we use the observed item and position scores to derive estimates of the trial-to-trial distribution of the number of items in States 1 and 2. In Part 2 we consider separately each serial position of the stimulus, and derive estimates of the probability that each individual item is in State 1 and State 2. The model handles omissions, second guesses, and gives sensitive estimates of partial information. Fast Fortran computer programs are available for all computations. In general, whenever responses are scored for items and/or for position, and when no alternative model is being tested, it is recommended that the above model be used to correct for the effects of guessing.     

Prior exercise of freedom and reactance

A communication that contains a particularly strong intent to influence caneasily lose persuasive impact or even bring about a “boomerang” effect. Such “boomerang” phenomena have often been attributed to “psychological reactance”, a motivational state created when freedoms are threatened or usurped. The first experiment reported here examined two factors that inhibited reactance effects. (A) The more that subjects were in initial disagreement with the communicator, the less likely they were to respond with boomerang change to a high pressure communication. (B) Among subjects who initially agreed with the communicator, a successful blocking of reactance effects was produced by asking them to write a short precommunication essay taking a position contrary to the communication. This latter effect was replicated in Experiment II.