We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls. Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents. Probands were more likely to carry an additional large copy-number variant when compared to matched controls. The clinical (...) features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease. © 2010 Nature America, Inc. All rights reserved. (shrink)

The Denjoy integral is an integral that extends the Lebesgue integral and can integrate any derivative. In this paper, it is shown that the graph of the indefinite Denjoy integral f↦∫xaf is a coanalytic non-Borel relation on the product space M[a,b]×C[a,b], where M[a,b] is the Polish space of real-valued measurable functions on [a,b] and where C[a,b] is the Polish space of real-valued continuous functions on [a,b]. Using the same methods, it is also shown that the class of indefinite Denjoy integrals, (...) called ACG∗[a,b], is a coanalytic but not Borel subclass of the space C[a,b], thus answering a question posed by Dougherty and Kechris. Some basic model theory of the associated spaces of integrable functions is also studied. Here the main result is that, when viewed as an ℝ[X]-module with the indeterminate X being interpreted as the indefinite integral, the space of continuous functions on the interval [a,b] is elementarily equivalent to the Lebesgue-integrable and Denjoy-integrable functions on this interval, and each is stable but not superstable, and that they all have a common decidable theory when viewed as ℚ[X]-modules. (shrink)

The idea that the brain is a representational organ has roots in the nineteenth century, when neurologists began drawing conclusions about what the brain represents from clinical and experimental studies. One of the earliest controversies surrounding representation in the brain was the “muscles versus movements” debate, which concerned whether the motor cortex represents complex movements or rather fractional components of movement. Prominent thinkers weighed in on each side: neurologists John Hughlings Jackson and F.M.R. Walshe in favor of complex movements, neurophysiologist (...) Charles Sherrington and neurosurgeon Wilder Penfield in favor of movement components. This essay examines these and other brain scientists’ evolving notions of representation during the first eighty years of the muscles versus movements debate (c. 1873–1954). Although participants agreed about many of the superficial features of representation, their inferences reveal deep-seated disagreements about its inferential role. Divergent epistemological commitments stoked conflicting conceptions of what representational attributions imply and what evidence supports them. (shrink)

Nicholas Wolterstorff's Divine Discourse attempts to give philosophical warrant to the claim that ‘God speaks’. While Wolterstorff's argument depends largely on his appropriation of J.L. Austin's speech act theory, he also uses two narratives that for him demonstrate how ‘God speaks’. The first is the story of Augustine's conversion in the Confessions and the second is a story that Wolterstorff recounts about a certain ‘Virginia’. This study argues that what Wolterstorff claims to derive from Augustine's narrative for his view of (...) divine discourse is not fully supported by the Confessions, and that Augustine's interpretation of the words ‘tolle lege, tolle lege’, can be construed as a useful interpretation of an ambiguous sign. This is consistent with Augustine's understanding of the interpretation of texts in both the De doctrina christiana and the Confessions. In short, Augustine is far more open to the ambiguity of signs than Wolterstorffs's account suggests. (shrink)

First published in 1914, this volume by F. B. Jevons was designed as a response to the simple question: What is philosophy? Consisting of five separate lectures, the work throws light on the themes of philosophy and science, materialism and idealism, scepticism, practical philosophy, and the notion of the whole and its parts. The aim of the study was not simply to provide an answer to the question in the title, but to bring out the meaning of the question itself (...) and to demonstrate the inherent utilitarian significance of philosophy to everyone. As Jevons notes in the preface, 'Philosophy is a concern of the average man and of practical life, and should not be the monopoly of the professed student.'. (shrink)

Die Grieckischen Culten und Mythen in ihren Beziehungen zu den Orientalischen Religionen. Von O. Gruppe. Erster Band: Einleitung. Leipzig: Teubner. 1887. 14 Mk.

First published in 1913, Jevons’ Personality marries the disciplines of philosophy and psychology in order to question the existence of personality and the arguments surrounding it. Intriguingly, Jevons suggests that if a person can question their own personality and existence, by extension they can also question the personality and existence of God. The book is arranged into four chapters based on a series of lectures delivered in Oxford in 1912: these discuss such areas as the relationship between science, psychology, and (...) personality; the argument that "there are changes, but no things which change", and consequently there are changes, but no persons who change; and, the concepts of individualism and unity. (shrink)

Plato, in one of his dialogues, says: “ The feeling of wonder is the genuine mark of the philosopher; for philosophy has its origin in wonder.” What Plato here says may be accepted as true: the philosopher does wonder. But the philosopher is not the only man who wonders about things. It might perhaps be going too far to say that all men experience the feeling, for some men seem to plod on their weary round without curiosity enough to wonder (...) at anything, whilst others, being comfortable, are satisfied to take things for granted, and never think of wondering at them. (shrink)

Iris Murdoch’s Metaphysics as a Guide to Morals ranges wide over the field of Western philosophical thought. Throughout the work, Murdoch proposes and enacts a form of philosophical inquiry that she believes supports a moral philosophy based on the idea of the good. One of her attempts, partly inspired by Paul Tillich and J. N. Findlay, centers on her critique and appropriation of the structure of the so-called “ontological argument” in Anselm’s Proslogion. This study assesses Murdoch’s accomplishment and the tenability (...) of the kind of Platonism she proposes against Anselm’s argument about the good in both the Monologion and the Proslogion. My claim is that Anselm’s conception of the good simply does not permit the kind of interpretation that Murdoch puts on the “ontological argument.”. (shrink)

Augustine’s metaphysics is a subject little studied, but often much criticized. Among the recent studies of Augustine’s metaphysics, Scott MacDonald’s interpretation of Augustine’s notion of goodness claims that Augustine’s account is incoherent. This suggests a reading of Augustine that is somewhat problematic. This article argues that much of the difficulty that MacDonald claims rests on a misunderstanding of Augustine’s views about the goodness of creation and existence and the corruptibility of created things. Augustine’s position takes for granted an understanding of (...) existence as a good and the participation of all things in the pre–eminent good, that is God. (shrink)