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)

In an era when public faith in politicians is dwindling, yet trust in scientists remains relatively high, governments are increasingly emphasizing the role of science based policy-making in response to challenges such as climate change and global pandemics. In this paper we question the quality of some scientific advice given to governments and the robustness and transparency of the entire framework which envelopes such advice, all of which raise serious ethical concerns. In particular we focus on the so-called Imperial Model (...) which heavily influenced the government of the United Kingdom in devising its response to the COVID-19 crisis. We focus on and highlight several fundamental methodological flaws of the model, raise concerns as to the robustness of the system which permitted these to remain unchallenged, and discuss the relevant ethical consequences. (shrink)

Although it is well accepted that working memory is intimately related to consciousness, little research has illuminated the liaison between the two phenomena. To investigate this under-explored nexus, we used an imagery monitoring task to investigate the subjective aspects of WM performance. Specifically, in two experiments, we examined the effects on consciousness of holding in mind information having a low versus high memory load, and holding memoranda in mind during the presentation of distractors . Higher rates of rehearsal occurred in (...) the high load and distractor conditions than in comparable control conditions. Examination of the temporal properties of the rehearsal-based imagery revealed that, across subjects, imagery events occurred evenly throughout the delay. We hope that future variants of this new imagery monitoring task will reveal additional insights about WM, consciousness, and action control. (shrink)

This book argues that the major traditions in the philosophy of language have mistakenly focused on highly idealized linguistic contexts. Instead, it presents a non-ideal foundational theory of language that contends that the essential function of language is to direct attention for the purpose of achieving diverse social and political goals. Philosophers of language have focused primarily on highly idealized linguistic contexts in which cooperative agents are working toward the shared goal of gaining information about the world. This approach abstracts (...) away from important issues like power, ideology, social position, and diversity of goals which are crucial to explaining linguistic phenomena both at the semantic and pragmatic levels. This book begins by examining the work of some of the pioneers of this tradition--primarily David Lewis, Paul Grice, and Robert Stalnaker. The author shows that various problems have their source in idealizations made at the foundational level of linguistic theory and proposes to rebuild from the ground-up. She presents a non-ideal foundational theory of language which retains the major insights of traditional frameworks while rejecting the social idealizations that guide them. Then, she explores the social and political applications of her account to issues such as dog whistling, propaganda, slurs and racist speech, silencing, and manipulation. Non-Ideal Foundations of Language will appeal to researchers and advanced students in philosophy of language who are interested in the social and political applications of language, as well as traditional metasemantic theory. (shrink)

This paper attempts to revive a once-lively program in the philosophy of language—that of reducing linguistic phenomena to facts about mental states and actions. I argue that recent skepticism toward this project is generated by features of traditional implementations of the project, rather than the project itself. A picture of language as essentially a mechanism for cooperative information exchange attracted theorists to metasemantic accounts grounding language use in illocutionary action (roughly, using an utterance to elicit a propositional attitude). When this (...) picture is rejected, a metasemantics grounding language in locutionary action (using an utterance to direct attention) emerges as a more viable proposal, dissolving an intractable issue for traditional theories: The metasemantics of subsentential expressions. (shrink)

Empathy refers to a whole class or “cluster” of behaviors based in emotional linkage between individuals. The capacity for empathy is not unique to humans, but has evolved in a range of mammals that live in complex social groups. There is good evidence for empathy in primates, pachyderms, cetaceans, social carnivores, and rodents. Because empathy is grounded in the same neurological architecture as other prosocial behaviors such as trust, reciprocity, cooperation, and fairness, it seems likely that a whole suite of (...) interlinked moral behaviors have coevolved in social mammals. This essay explores the concept of empathy, reviews the scientific evidence for empathy in several species of social mammals, and suggests why empathy is adaptive. The paper concludeswith a discussion of what, if anything, the discovery of empathy in other animals suggests for how we treat them and how we think about our own morality. (shrink)

Empathy refers to a whole class or “cluster” of behaviors based in emotional linkage between individuals. The capacity for empathy is not unique to humans, but has evolved in a range of mammals that live in complex social groups. There is good evidence for empathy in primates, pachyderms, cetaceans, social carnivores, and rodents. Because empathy is grounded in the same neurological architecture as other prosocial behaviors such as trust, reciprocity, cooperation, and fairness, it seems likely that a whole suite of (...) interlinked moral behaviors have coevolved in social mammals. This essay explores the concept of empathy, reviews the scientific evidence for empathy in several species of social mammals, and suggests why empathy is adaptive. The paper concludeswith a discussion of what, if anything, the discovery of empathy in other animals suggests for how we treat them and how we think about our own morality. (shrink)

Thousands of youth suffering from acquired brain injury or other early-life neurological disease live, mature, and learn with only limited communication and interaction with their world. Such cognitively capable children are ideal candidates for brain-computer interfaces. While BCI systems are rapidly evolving, a fundamental gap exists between technological innovators and the patients and families who stand to benefit. Forays into translating BCI systems to children in recent years have revealed that kids can learn to operate simple BCI with proficiency akin (...) to adults. BCI could bring significant boons to the lives of many children with severe physical impairment, supporting their complex physical and social needs. However, children have been neglected in BCI research and a collaborative BCI research community is required to unite and push pediatric BCI development forward. To this end, the pediatric BCI Canada collaborative network was formed, under a unified goal to cooperatively drive forward pediatric BCI innovation and impact. This article reflects on the topics and discussions raised in the foundational BCI-CAN meeting held in Toronto, ON, Canada in November 2019 and suggests the next steps required to see BCI impact the lives of children with severe neurological disease and their families. (shrink)

Linguistic meaning is determined by use. But given the fact that any given expression can be used in a variety of ways, this claim marks where metasemantic inquiry begins rather than where it ends. It sets an agenda for the metasemantic project: to distinguish in a principled and explanatory way those uses that determine linguistic meaning from those that do not. The prevailing view (along with its various refi nements), which privileges assertion, suffers from being at once overly liberal and (...) overly idealized. By parsing the most prominent aims we use language to achieve, noting their relations of dependence and the specific type of uses they involve, I arrive at a novel metasemantic account: facts of linguistic meaning are determined by locutionary action. (shrink)

The term ‘sustainability’ is vague and open to interpretation. In this paper we analyze how firms use the term in an effort to make the concept their own, and how it becomes a premise for further decisions, by applying a bottom-up approach focusing on the interpretation of ‘sustainability’ in the Norwegian salmon-farming industry. The study is based on a strategic selection of informants from the industry and the study design rests on: 1) identification of the main drivers of sustainability, and (...) 2) the application of five different discursive strategies to analyze how the firms maneuver to legitimize ‘sustainability’ in their conduct. We employ the Critical Discourse Analysis framework, which emphasizes how discourses provide different concepts of meaning. The sustainability concept is assessed based on how sustainability is brought into action by social actors in a legitimate way, and how this action results in sustainable practices. The empirical case of the study is the verbal justification of sustainability practices among representatives of the Norwegian salmon-farming industry. We aim to find out how these representatives translate the rather vague directives of the sustainability concept into legitimate choices that resonate with the firms’ contextual environment, hence, how the salmon farmers perceive, explore, interpret, explain, enact, and defend the diverse landscape of sustainability when implementing professional decisions. We found a trend of passive adaptation to external requirements, such as public regulations and regulative requirements from certification bodies. At the same time, there are progressive forces that attempt to improve the sustainability of the farming practices by involvement in research and innovation projects or cooperation with other firms, e.g. the contribution from offshore engineers in developing high seas farms. The strategies outlined and discussed cannot be seen as a typology to categorize the firms. More than one discursive strategy may be involved in one firm’s choice, and the strategies may work on different levels. (shrink)

There is a moment in Peter Brosens and Jessica Woodworth’s Khadak (2006) when the image of a tree is rotated 180 degrees [...].

ABSTRACT:We discuss workers’ dignity in hierarchical organizations. First, we explain why a conflict exists between high-ranking individuals’ authority and low-ranking individuals’ dignity. Then, we ask whether there is any justification that reconciles hierarchical authority with the dignity of workers. We advance a communitarian justification for hierarchical authority, drawing upon Confucianism, which provides that workers can justifiably accept hierarchical authority when it enables a certain type of social functioning critical for the good life of workers and other involved parties. The Confucian (...) communitarian perspective shows that promoting workers’ good life or well-being is an important condition for protecting their dignity. (shrink)

We suggest that the emerging field of the conservation humanities can play a valuable role in biodiversity protection in Papua New Guinea (PNG), where most land remains under collective customary clan ownership. As a first step to mobilising this scholarly field in PNG and to support capacity development for PNG humanities academics, we conducted a landscape review of PNG humanities teaching and research relating to biodiversity conservation and customary land rights. We conducted a systematic literature review, a PNG teaching programme (...) review, and a series of online workshops between the authors (10 PNG-based, 7 UK-based). We found a small but notable amount of PNG research and teaching focused on biodiversity conservation or customary land rights. This included explicit discussion of these topics in 8 of 156 PNG-authored humanities texts published 2010-2020 and related teaching content in the curricula of several different humanities-based programmes. We discuss current barriers to PNG academic development. The growth of fully fledged in-country conservation humanities will require a joint collaborative effort by PNG researchers, who are best placed to carry out such work, and researchers from abroad who can access resources to support the process. (shrink)

Perception of temporal patterns is fundamental to normal hearing, speech, motor control, and music. Certain types of pattern understanding are unique to humans, such as musical rhythm. Although human responses to musical rhythm are universal, there is much we do not understand about how rhythm is processed in the brain. Here, I consider findings from research into basic timing mechanisms and models through to the neuroscience of rhythm and meter. A network of neural areas, including motor regions, is regularly implicated (...) in basic timing as well as processing of musical rhythm. However, fractionating the specific roles of individual areas in this network has remained a challenge. Distinctions in activity patterns appear between "automatic" and "cognitively controlled" timing processes, but the perception of musical rhythm requires features of both automatic and controlled processes. In addition, many experimental manipulations rely on participants directing their attention toward or away from certain stimulus features, and measuring corresponding differences in neural activity. Many temporal features, however, are implicitly processed whether attended to or not, making it difficult to create controlled baseline conditions for experimental comparisons. The variety of stimuli, paradigms, and definitions can further complicate comparisons across domains or methodologies. Despite these challenges, the high level of interest and multitude of methodological approaches from different cognitive domains (including music, language, and motor learning) have yielded new insights and hold promise for future progress. (shrink)

The practical criteria by which developmental biologists choose their model systems have evolutionary correlates. The result is a sample that is not merely small, but biased in particular ways, for example towards species with rapid, highly canalized development. These biases influence both data collection and interpretation, and our views of how development works and which aspects of it are important.

The concept of homology arose from classical studies of comprative morphology, and took on a new signficance with the advent of evolutionary theory. It is currentlyl undergoing antoher metamorphosis: many developmental geneticists now dfine homology as shared patterns of gene expression. However, this ne usage conflaes difinition with criteri, and fails to recognize the meaninful asignments of homology must speify a biologcal level. We argue the although developmental genetic data can help identify homologus structures. they are niether necessary nor sufficient, (...) and do not in any case jutify a new definition of homology. (shrink)

Much critical attention has been paid to the use of qualitative research in the medical sciences, with proponents advancing discussions of what it is and how it may be appraised, and critics arguing that it is of exploratory use only. Using philosophical analysis, I argue that such discussions are flawed insofar as they endorse the idea that qualitative and quantitative research are epistemically distinct categories involving different types of knowledge. Rather, I claim that such approaches are actually culturally distinct involving (...) different intellectual histories. Thus highlighting that qualitative research may not necessarily be exploratory, and that the qualitative-quantitative divide could be closed through the development of innovative social strategies. This makes possible not only shared standard setting practices, but also novel techniques which could optimise medical research to improve health care and save lives. (shrink)

Leading animal models are powerful tools for translational research, but they also present obstacles. Poorly conducted preclinical research in animals is a common cause of translational failure, but even when such research is well-designed and carefully executed, challenges remain. In particular, dominant models may bias research directions, elide essential aspects of human disease, omit important context, or subtly shift research targets. Recognizing these stumbling blocks can help us find ways to avoid them: employing a wider range of models, incorporating more (...) realistic environmental conditions, better aligning studies between animals and patients, and focusing on human biology and therapeutic goals. Such changes are costly; but insisting it would be impractical or unrealistic to change strategies offers no way out of the current impasse. Rather, we must acknowledge the obstacles as well as the advantages presented by core models, and direct some of our investments in translational research toward getting around them. The dominance of biomedical research by a handful of animal models introduces subtle but significant obstacles to translation. Recognizing these obstacles is a critical first step toward finding ways around them; this paper describes how dominant models can create roadblocks, and suggests strategies to improve the efficiency of translation from animal models to humans. (shrink)

Music uses the evolutionarily unique temporal sensitivity of the auditory system and its tight coupling to the motor system to create a common neurophysiological clock between individuals that facilitates action coordination. We propose that this shared common clock arises from entrainment to musical rhythms, the process by which partners' brains and bodies become temporally aligned to the same rhythmic pulse.

The American Journal of Bioethics, Volume 12, Issue 10, Page 47-49, October 2012.

"A frontier is not a wall, but a threshold."The last four decades have witnessed a marked change in the perception of identity in Spain. The country's rapid transformation from dictatorship to democracy with the death of its dictator, General Francisco Franco, in 1975, accelerated the economic modernization begun in the 1960s. Soon after, Spain joined Western countries as a significant entity in world events, and became an appealing destination for immigrants looking for a better chance at economic sustainability. Consequently, the (...) country's population shifted from one of net emigration in the 1960s and '70s, to one with a slight immigrant population of.52 percent in 1981, to harboring an immigrant population of. (shrink)

With the aim of studying foundations for self-other relations and understanding, we conducted an experimental investigation of a specific aspect of imitation in children with autism: the propensity to copy self-other orientation. We hypothesised that children with autism would show limitations inidentifying withthe stance of another person. We tested 16 children with autism and 16 non-autistic children with learning difficulties, matched on both chronological and verbal mental age, for their propensity to imitate the self- or other-orientated aspects of another person’s (...) actions. All participants were attentive to the demonstrator and copied her actions, but the children with autism were significantly less likely to imitate those aspects of her actions that involved movement in relation to her own vis-à-vis the child’s body. There were a number of children with autism who copied the identical geometric orientation of objects acted-upon. These results suggest that children with autism have a diminished propensity to identify with other people, and point to the importance of this mechanism for shaping self-other relations and flexible thinking. (shrink)

Compared to our understanding of positive prediction error signals occurring due to unexpected reward outcomes, less is known about the neural circuitry in humans that drives negative prediction errors during omission of expected rewards. While classical learning theories such as Rescorla–Wagner or temporal difference learning suggest that both types of prediction errors result from a simple subtraction, there has been recent evidence suggesting that different brain regions provide input to dopamine neurons which contributes to specific components of this prediction error (...) computation. Here, we focus on the brain regions responding to negative prediction error signals, which has been well-established in animal studies to involve a distinct pathway through the lateral habenula. We examine the activity of this pathway in humans, using a conditioned inhibition paradigm with high-resolution functional MRI. First, participants learned to associate a sensory stimulus with reward delivery. Then, reward delivery was omitted whenever this stimulus was presented simultaneously with a different sensory stimulus, the conditioned inhibitor. Both reward presentation and the reward-predictive cue activated midbrain dopamine regions, insula and orbitofrontal cortex. While we found significant activity at an uncorrected threshold for the CI in the habenula, consistent with our predictions, it did not survive correction for multiple comparisons and awaits further replication. Additionally, the pallidum and putamen regions of the basal ganglia showed modulations of activity for the inhibitor that did not survive the corrected threshold. (shrink)

With the aim of studying foundations for self-other relations and understanding, we conducted an experimental investigation of a specific aspect of imitation in children with autism: the propensity to copy self-other orientation. We hypothesised that children with autism would show limitations inidentifying withthe stance of another person. We tested 16 children with autism and 16 non-autistic children with learning difficulties, matched on both chronological and verbal mental age, for their propensity to imitate the self- or other-orientated aspects of another person’s (...) actions. All participants were attentive to the demonstrator and copied her actions, but the children with autism were significantly less likely to imitate those aspects of her actions that involved movement in relation to her own vis-à-vis the child’s body. There were a number of children with autism who copied the identical geometric orientation of objects acted-upon. These results suggest that children with autism have a diminished propensity to identify with other people, and point to the importance of this mechanism for shaping self-other relations and flexible thinking. (shrink)

While utopians cannot produce what they can imagine, we can no longer imagine what we produce. It is increasingly the case that undergraduate teacher candidates find themselves enrolled in courses that have been developed “in partnership” with local school districts—districts adjacent to the actual universities where they are enrolled. Recently, one such partnership arrangement had a foundation of education professor and initial certification students oscillating between two school districts located in the same large suburban area. One side of town is (...) inhabited by mostly minority children in underfunded schools—commonly viewed as the “bad” district. The other side of town has the “better” district, as it .. (shrink)

With the aim of studying foundations for self-other relations and understanding, we conducted an experimental investigation of a specific aspect of imitation in children with autism: the propensity to copy self-other orientation. We hypothesised that children with autism would show limitations in identifying with the stance of another person. We tested 16 children with autism and 16 non-autistic children with learning difficulties, matched on both chronological and verbal mental age, for their propensity to imitate the self- or other-orientated aspects of (...) another person’s actions. All participants were attentive to the demonstrator and copied her actions, but the children with autism were significantly less likely to imitate those aspects of her actions that involved movement in relation to her own vis-à-vis the child’s body. There were a number of children with autism who copied the identical geometric orientation of objects acted-upon. These results suggest that children with autism have a diminished propensity to identify with other people, and point to the importance of this mechanism for shaping self-other relations and flexible thinking. (shrink)

In “Obligations of the ‘Gift’: Reciprocity and Responsibility in Precision Medicine,” Lee rightly points out that disparities in health care access also lead to disparities in precision medi...

New technologies coupled with high energy prices, a desire for energy independence, and cleaner energy, have led to many energy companies investing large amounts of capital into rural places. In the last decade, along with solar and wind, unconventional shale oil and gas production has risen steeply throughout the United States boosting economic growth and stimulating wealth creation in many communities. Because farmers own or operate over half of rural lands in the lower 48 states, the possibility is high for (...) shale development to contribute to the financial well-being of farmers with land in shale regions. However, by focusing on the large royalties of some landowners, environmental and social risks that farmers encounter may be overlooked. To address the gap of farmer impacts, I examine the experiences and perceptions of crop farm owners who reside in two established shale plays: the Bakken region in North Dakota and the Marcellus region in Pennsylvania and in one emerging shale play: the New Albany region in Southern Illinois. I survey farm owners of both large and small crop farms, who farm a variety of crops both by conventional and organic methods. By having such a diverse sample of farm owners in both established shale plays and emerging shale plays, I explore how farmers’ experiences differ with respect to their finances and investments, environmental degradation as well as how their perceptions of trust in oil and gas companies and community rifts differ. (shrink)

In this dissertation, I provide an account of the protections to which most captive non-human animals are morally entitled when they participate in health-related research. At least in the animal ethics literature, it is uncontroversial that the protections currently afforded to captive research animals are inadequate. This has much to do with the fact that most animals who serve as research participants are 1) sentient and, thus, have important morally considerable interests; 2) unable to provide informed consent to their research (...) participation; and 3) seriously harmed as a result of their participation. Unsurprisingly, then, a number of authors have proposed alternative sets of protections that they take to be appropriately responsive to the morally considerable interests of research animals. However, none of the alternatives proposed ensures the ethically appropriate treatment of research animals because all are demonstrably more permissive than the set of protections governing research involving children. This seems problematic given that most animal research participants, like most pediatric research participants, are sentient and unable to provide informed consent for their research participation, and, furthermore, that these are the very characteristics that render children vulnerable — and so entitled to additional protections — in the context of research. I examine a number of reasons that might be thought to justify the discrepancy between the protections afforded to these two groups of research participants, and argue that no non-speciesist justification is forthcoming. Consequently, we ought to reflect upon how the protections currently in place for pediatric research participants might be extended to most animal research participants. I argue that most pediatric research protections, when suitably amended to account for relevant differences between most children and animals, can and should be extended to most animal research participants. I also demonstrate that doing so would require that substantial changes are made to most extant animal research studies. Since this, in turn, would require a radical transformation of the research enterprise as we know it, I also gesture towards how we might get from where we currently are to a truly just research enterprise. (shrink)

Matrices that cannot be handled using conventional clustering, regression or classification methods are often found in every big data research area. In particular, datasets with thousands or millions of rows and less than a hundred columns regularly appear in biological so-called omic problems. The effectiveness of conventional data analysis approaches is hampered by this matrix structure, which necessitates some means of reduction. An evolutionary method called PreCLAS is presented in this article. Its main objective is to find a submatrix with (...) fewer rows that exhibits some group structure. Three stages of experiments were performed. First, a benchmark dataset was used to assess the correct functionality of the method for clustering purposes. Then, a microarray gene expression data matrix was used to analyze the method’s performance in a simple classification scenario, where differential expression was carried out. Finally, several classification methods were compared in terms of classification accuracy using an RNA-seq gene expression dataset. Experiments showed that the new evolutionary technique significantly reduces the number of rows in the matrix and intelligently performs unsupervised row selection, improving classification and clustering methods. (shrink)

The United States has a population of three hundred million, according to latest Census Bureau estimates. Forty-seven million, including many non-citizens, are uninsured. That is, 16% of the total United States population has no health insurance. Millions more have inadequate coverage and are in danger of losing that. Private, corporatized medical coverage, structured by the insurance industry, is the basis for the current system. This article is an attempt to lay out the principal health care issues, to look at the (...) alternatives and the cost of those alternatives, and to try to determine whether there is a particular regime that, despite its imperfections, is the best available to us now. (shrink)