Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences

This paper reports data from a qualitative study of patient experiences of DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome, cardiac conditions that place sufferers at risk of sudden death. The paper particularly focuses on potential impediments to testing and screening. Semi-structured interviews were undertaken with a purposive sample of 27 people in the UK who had undergone testing. In the context of the uncertainties that can characterize experiences of these disorders, the majority of participants in this sample embraced testing and screening as a way of providing health information for themselves or their relatives (particularly children). There was nevertheless evidence of ambivalence about the value and impact of the DNA test information which could influence participants’ dispositions toward testing, and play into dilemmas about family communication. Other concerns arose in relation to communicating about these disorders, decisions to involve elderly relatives and pressures relating to family responsibility. The evidence of ambivalence provides insight into why some people may be resistant to testing, screening and sharing information. The findings about communication processes indicate potential areas of concern for the cascading process.     

New trends in philosophy of psychiatry

The concept of mental disorder is often defined by reference to the notion of mental dysfunction, which is in line with how the concept of disease in somatic medicine is often defined. However, the notions of mental function and dysfunction seem to suffer from some problems that do not affect models of physiological function. Functions in general have a teleological structure; they are effects of traits that are supposed to have a particular purpose, such that, for example, the heart serves the goal of pumping blood. But can we single out mental functions in the same way? Can we identify mental functions scientifically, for instance, by applying evolutionary theory? Or are models of mental functions necessarily value-laden? I want to identify several philosophical problems regarding the notion of mental function and dysfunction and point out some possible solutions. As long as these questions remain unanswered, definitions of mental disorder that rest upon the concept of mental dysfunction will lack a secure foundation.     

Moral Luck and Liability Lotteries

Adversaries of Moral Luck (AMLs) are at pains to explain why wrongdoers are liable to bear burdens (punishment, compensation etc.) which are related to the harm they cause, because the consequences of what we do are a matter of luck. One attempt to solve this problem suggests that wrongdoers who cause more harm are liable to bear a greater burden not because they are more blameworthy but rather because they get the short straw in a liability lottery (represented by the apparently indeterminate causal process). In this paper I argue that this attempt fails on several grounds. Apart from the fact that it is hard to see how the implementation of liability lotteries can be motivated and the fact that such scheme presupposes a political order (whereas the notion of liability does not seem to presuppose one), detaching liability from the outcomes of a culpable action undermines whichever justifications there were for imposing liability in the first place. Moreover, relying on the determination of the causal process as a good indication of the wrongdoer’s degree of culpability is mistaken, because the luck brought about through the causal process is not necessarily the only element involved in cases of harmful conduct which lies beyond the wrongdoers’ control.     

Subitizing in congenitally blind adults

We investigated the role of vision in tactile enumeration within and outside the subitizing range. Congenitally blind and sighted (blindfolded) participants were asked to enumerate quickly and accurately the number of fingers stimulated. Both groups of participants enumerated one to three fingers quickly and accurately but were much slower and less accurate with four to nine fingers. Within the subitizing range, blind participants performed no differently from both sighted (blindfolded) and sighted-seeing participants. Outside of the subitizing range, blind and sighted-seeing participants showed better performance than did sighted-blindfolded participants, suggesting that lack of access to the predominant sensory modality does affect performance. Together, these findings further support the claim that subitizing is a general perceptual mechanism and demonstrate that vision is not necessary for the development of the subitizing mechanism.     

The Transition from Object Faith to Personal Faith: Transitional Subjects

In this article, I unmoor the concept of heresy from its religious, technical roots, using the metaphor heresies of the heart to depict the psychological and theological dynamics of the human proclivity to rely on the idea of Truth to alienate, depersonalize, and coerce other human beings. Using the concepts of the personal mode of existence and emotional intelligence, I define heresies of the heart as comprising (a) those emotional attitudes that involve the transformation of insecurity and anxiety into hostility and hatred toward the Other, (b) recognition and treatment of the Other as less than a person, and (c) unquestionable beliefs regarding one’s truth and the certainty of one’s innocence. Theologically, heresies of the heart signify the presence of idolatry, which is a type of bad faith that involves the use of a contingent object to contain anxiety by transforming it into hostility toward the Other.     

Informational versus functional theories of scientific representation

Recent work in the philosophy of science has generated an apparent conflict between theories attempting to explicate the nature of scientific representation. On one side, there are what one might call ‘informational’ views, which emphasize objective relations (such as similarity, isomorphism, and homomorphism) between representations (theories, models, simulations, diagrams, etc.) and their target systems. On the other side, there are what one might call ‘functional’ views, which emphasize cognitive activities performed in connection with these targets, such as interpretation and inference. The main sources of the impression of conflict here are arguments by some functionalists to the effect that informational theories are flawed: it is suggested that relations typically championed by informational theories are neither necessary nor sufficient for scientific representation, and that any theory excluding functions is inadequate. In this paper I critically examine these arguments, and contend that, as it turns out, informational and functional theories are importantly complementary.     

A Top-Down Approach to a Complex Natural System: Protein Folding

We develop a general method for applying functional models to natural systems and cite recent progress in protein modeling that demonstrates the power of this approach. Functional modeling constrains the range of acceptable structural models of a system, reduces the difficulty of finding them, and improves their fidelity. However, functional models are distinctly different from the structural models that are more commonly applied in science. In particular, structural and functional models ask different questions and provide different kinds of answers. As we clarify these differences and articulate how to use these models jointly, we extend our ability to do science and gain insight into the proper use of the terms organization, order, and emergence when describing systems in nature.     

Doomed to Read in a Second Language: Implications for Learning

The aim of the study was to elucidate whether and how reliance on a second language impacts the learning of new information under very basic learning conditions. The paradigm used to investigate this issue required individuals to learn a series of associations between numerals and particular letter strings. Participants were two groups of university students: (1) individuals for whom spoken Hebrew was the mother tongue and written Hebrew a primary orthography (L1 group), and (2) individuals for whom Hebrew, both spoken and written, was a second language (L2 group). Data were collected under two conditions. In the language-dependent condition (LDC), the paradigm required learning associations between eight numerals and the letter strings of eight familiar Hebrew words. In the language-independent condition (LIC), it required learning associations between eight numerals and eight random letter strings in Hebrew. Results suggest that learners may be significantly disadvantaged when compelled to learn new information mediated in a second language. This disadvantage appears to manifest itself at a very basic learning level and in instances where new information is mediated by language that is fairly overlearned by the L2 learner.