Publications

Abstract

Until recently, imaging the infant brain was very challenging. Functional Near InfraRed Spectroscopy (fNIRS) is a promising, relatively novel technique, whose use is rapidly expanding. As an emergent field, it is particularly important to share methodological knowledge to ensure replicable and robust results. In this paper, we present a community-augmented database which will facilitate precisely this exchange. We tabulated articles and theses reporting empirical fNIRS research carried out on infants below three years of age along several methodological variables. The resulting spreadsheet has been uploaded in a format allowing individuals to continue adding new results, and download the most recent version of the table. Thus, this database is ideal to carry out systematic reviews. We illustrate its academic utility by focusing on the factors affecting three key variables: infant attrition, the reliability of oxygenated and deoxygenated responses, and signal-to-noise ratios. We then discuss strengths and weaknesses of the DBIfNIRS, and conclude by suggesting a set of simple guidelines aimed to facilitate methodological convergence through the standardization of reports.

Abstract

Over the first year of life, infant perception changes radically as the child learns the phonology of the ambient language from the speech she is exposed to. Since infant-directed speech attracts the child's attention more than other registers, it is necessary to describe that input in order to understand language development, and to address questions of learnability. In this review, evidence from corpora analyses, experimental studies, and observational paradigms is brought together to outline the first comprehensive empirical picture of infant-directed speech and its effects on language acquisition. The ensuing landscape suggests that infant-directed speech provides an emotionally and linguistically rich input to language acquisition

Abstract

A core property of language is the ability to generalize beyond observed examples. In two experiments, we explore how listeners generalize implicitly learned sound patterns to new nonwords and to new sounds, with the goal of shedding light on how similarity affects treatment of potential generalization targets. During the exposure phase, listeners heard nonwords whose onset consonant was restricted to a subset of a natural class (e.g., /d g v z Z/). During the test phase, listeners were presented with new nonwords and asked to judge how frequently they had been presented before; some of the test items began with a consonant from the exposure set (e.g., /d/), and some began with novel consonants with varying relations to the exposure set (e.g., /b/, which is highly similar to all onsets in the training set; /t/, which is highly similar to one of the training onsets; and /p/, which is less similar than the other two). The exposure onset was rated most frequent, indicating that participants encoded onset attestation in the exposure set, and generalized it to new nonwords. Participants also rated novel consonants as somewhat frequent, indicating generalization to onsets that did not occur in the exposure phase. While generalization could be accounted for in terms of featural distance, it was insensitive to natural class structure. Generalization to new sounds was predicted better by models requiring prior linguistic knowledge (either traditional distinctive features or articulatory phonetic information) than by a model based on a linguistically naïve measure of acoustic similarity.

Abstract

Social tolerance is a core aspect of primate social relationships with implications for the evolution of cooperation, prosociality and social learning. We measured the social tolerance of bonobos in an experiment recently validated with chimpanzees to allow for a comparative assessment of group-level tolerance, and found that the bonobo group studied here exhibited lower social tolerance on average than chimpanzees. Furthermore, following the Relational Model [de Waal, 1996], we investigated whether bonobos responded to an increased potential for social conflict with tolerance, conflict avoidance or conflict escalation, and found that only behaviours indicative of conflict escalation differed across conditions. Taken together, these findings contribute to the current debate over the level of social tolerance of bonobos and lend support to the position that the social tolerance of bonobos may not be notably high compared with other primates.

Abstract

First paragraph: Motivated by his quest to characterize the society of the last common ancestor of humans and other great apes, Toshisada Nishida set out as a graduate student to the Mahale Mountains on the eastern shore of Lake Tanganyika, Tanzania. This book is a story of his 45 years with the Mahale chimpanzees, or as he calls it, their ethnography. Beginning with his accounts of meeting the Tongwe people and the challenges of provisioning the chimpanzees for habituation, Nishida reveals how he slowly unravelled the unit group and community basis of chimpanzee social organization. The book begins and ends with a feeling of chronological order, starting with his arrival at Mahale and ending with an eye towards the future, with concrete recommendations for protecting wild chimpanzees. However, the bulk of the book is topically organized with chapters on feeding behaviour, growth and development, play and exploration, communication, life histories, sexual strategies, politics and culture.

Abstract

Studies of animal behavior consistently demonstrate that the social environment impacts cooperation, yet the effect of social dynamics has been largely excluded from studies of human cooperation. Here, we introduce a novel approach inspired by nonhuman primate research to address how social hierarchies impact human cooperation. Participants competed to earn hierarchy positions and then could cooperate with another individual in the hierarchy by investing in a common effort. Cooperation was achieved if the combined investments exceeded a threshold, and the higher ranked individual distributed the spoils unless control was contested by the partner. Compared to a condition lacking hierarchy, cooperation declined in the presence of a hierarchy due to a decrease in investment by lower ranked individuals. Furthermore, hierarchy was detrimental to cooperation regardless of whether it was earned or arbitrary. These findings mirror results from nonhuman primates and demonstrate that hierarchies are detrimental to cooperation. However, these results deviate from nonhuman primate findings by demonstrating that human behavior is responsive to changing hierarchical structures and suggests partnership dynamics that may improve cooperation. This work introduces a controlled way to investigate the social influences on human behavior, and demonstrates the evolutionary continuity of human behavior with other primate species.

Abstract

Because stress can occur in any position within an Eglish word, lexical prosody could serve as a minimal distinguishing feature between pairs of words. However, most pairs of English words with stress pattern opposition also differ vocalically: OBject an obJECT, CONtent and content have different vowels in their first syllables an well as different stress patters. To test whether prosodic information is made use in auditory word recognition independently of segmental phonetic information, it is necessary to examine pairs like FORbear – forBEAR of TRUSty – trusTEE, semantically unrelated words which echbit stress pattern opposition but no segmental difference. In a cross-modal priming task, such words produce the priming effects characteristic of homophones, indicating that lexical prosody is not used in the same was as segmental structure to constrain lexical access.

Abstract

Two bodies of recent research from experimental psycholinguistics are summarised, each of which is centred upon a concept from phonology: LEXICAL STRESS and the SYLLABLE. The evidence indicates that neither construct plays a role in prelexical representations during speech recog- nition. Both constructs, however, are well supported by other performance evidence. Testing phonological claims against performance evidence from psycholinguistics can be difficult, since the results of studies designed to test processing models are often of limited relevance to phonological theory.

Abstract

Four studies are reported in which young children’s response time to detect word targets was measured. Children under about six years of age did not show response time advantage for accented target words which adult listeners show. When semantic focus of the target word was manipulated independently of accent, children of about five years of age showed an adult-like response time advantage for focussed targets, but children younger than five did not. Id is argued that the processing advantage for accented words reflect the semantic role of accent as an expression of sentence focus. Processing advantages for accented words depend on the prior development of representations of sentence semantic structure, including the concept of focus. The previous literature on the development of prosodic competence shows an apparent anomaly in that young children’s productive skills appear to outstrip their receptive skills; however, this anomaly disappears if very young children’s prosody is assumed to be produced without an underlying representation of the relationship between prosody and semantics.

Abstract

Orthographies encode phonological information only at the level of words (chiefly, the information encoded concerns phonetic segments; in some cases, tonal information or default stress may be encoded). Of primary interest to second language (L2) learners is whether orthography can assist in clarifying L2 phonological distinctions that are particularly difficult to perceive (e.g., where one native-language phonemic category captures two L2 categories). A review of spoken-word recognition evidence suggests that orthographic information can install knowledge of such a distinction in lexical representations but that this does not affect learners’ ability to perceive the phonemic distinction in speech. Words containing the difficult phonemes become even harder for L2 listeners to recognize, because perception maps less accurately to lexical content.

Abstract

Speech segmentation procedures may differ in speakers of different languages. Earlier work based on French speakers listening to French words suggested that the syllable functions as a segmentation unit in speech processing. However, while French has relatively regular and clearly bounded syllables, other languages, such as English, do not. No trace of syllabifying segmentation was found in English listeners listening to English words, French words, or nonsense words. French listeners, however, showed evidence of syllabification even when they were listening to English words. We conclude that alternative segmentation routines are available to the human language processor. In some cases speech segmentation may involve the operation of more than one procedure

Abstract

PURPOSE: We examined circulating miRNA expression profiles in plasma of patients with coronary artery disease (CAD) vs. matched controls, with the aim of identifying novel discriminating biomarkers of Stable (SA) and Unstable (UA) angina. METHODS: An exploratory analysis of plasmatic expression profile of 367 miRNAs was conducted in a group of SA and UA patients and control donors, using TaqMan microRNA Arrays. Screening confirmation and expression analysis were performed by qRT-PCR: all miRNAs found dysregulated were examined in the plasma of troponin-negative UA (n=19) and SA (n=34) patients and control subjects (n=20), matched for sex, age, and cardiovascular risk factors. In addition, the expression of 14 known CAD-associated miRNAs was also investigated. RESULTS: Out of 178 miRNAs consistently detected in plasma samples, 3 showed positive modulation by CAD when compared to controls: miR-337-5p, miR-433, and miR-485-3p. Further, miR-1, -122, -126, -133a, -133b, and miR-199a were positively modulated in both UA and SA patients, while miR-337-5p and miR-145 showed a positive modulation only in SA or UA patients, respectively. ROC curve analyses showed a good diagnostic potential (AUC ≥ 0.85) for miR-1, -126, and -483-5p in SA and for miR-1, -126, and -133a in UA patients vs. controls, respectively. No discriminating AUC values were observed comparing SA vs. UA patients. Hierarchical cluster analysis showed that the combination of miR-1, -133a, and -126 in UA and of miR-1, -126, and -485-3p in SA correctly classified patients vs. controls with an efficiency ≥ 87%. No combination of miRNAs was able to reliably discriminate patients with UA from patients with SA. CONCLUSIONS: This work showed that specific plasmatic miRNA signatures have the potential to accurately discriminate patients with angiographically documented CAD from matched controls. We failed to identify a plasmatic miRNA expression pattern capable to differentiate SA from UA patients.

Abstract

Human cognition is traditionally studied in experimental conditions wherein confounding complexities of the natural environment are intentionally eliminated. Thus, it remains unknown how a brain region involved in a particular experimental condition is engaged in natural conditions. Here we use electrocorticography to address this uncertainty in three participants implanted with intracranial electrodes and identify activations of neuronal populations within the intraparietal sulcus region during an experimental arithmetic condition. In a subsequent analysis, we report that the same intraparietal sulcus neural populations are activated when participants, engaged in social conversations, refer to objects with numerical content. Our prototype approach provides a means for both exploring human brain dynamics as they unfold in complex social settings and reconstructing natural experiences from recorded brain signals.

Abstract

In psycholinguistic studies using error rates as a response measure, response times (RT) are most often analyzed independently of the error rate, although it is widely recognized that they are related. In this paper we present a mixed effects logistic regression model for the error rate that uses RT as a trial-level fixed- and random-effect regression input. Production data from a translation–recall experiment are analyzed as an example. Several model comparisons reveal that RT improves the fit of the regression model for the error rate. Two simulation studies then show how the mixed effects regression model can identify individual participants for whom (a) faster responses are more accurate, (b) faster responses are less accurate, or (c) there is no relation between speed and accuracy. These results show that this type of model can serve as a useful adjunct to traditional techniques, allowing psycholinguistic researchers to examine more closely the relationship between RT and accuracy in individual subjects and better account for the variability which may be present, as well as a preliminary step to more advanced RT–accuracy modeling.

Abstract

The tracking of entities in discourse is known to be a bimodal phenomenon. Speakers achieve cohesion in speech by alternating between full lexical forms, pronouns, and zero anaphora as they track referents. They also track referents in co-speech gestures. In this study, we explored how viewpoint is deployed in reference tracking, focusing on representations of animate entities in German narrative discourse. We found that gestural viewpoint systematically varies depending on discourse context. Speakers predominantly use character viewpoint in maintained contexts and observer viewpoint in reintroduced contexts. Thus, gestural viewpoint seems to function as a cohesive device in narrative discourse. The findings expand on and provide further evidence for the coordination between speech and gesture on the discourse level that is crucial to understanding the tight link between the two modalities.

Abstract

It is usually assumed that modern language is a recent phenomenon, coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden mutation giving rise to the full “modern package”. However, we argue here that recognizably modern language is likely an ancient feature of our genus pre-dating at least the common ancestor of modern humans and Neandertals about half a million years ago. To this end, we adduce a broad range of evidence from linguistics, genetics, palaeontology and archaeology clearly suggesting that Neandertals shared with us something like modern speech and language. This reassessment of the antiquity of modern language, from the usually quoted 50,000-100,000 years to half a million years, has profound consequences for our understanding of our own evolution in general and especially for the sciences of speech and language. As such, it argues against a saltationist scenario for the evolution of language, and towards a gradual process of culture-gene co-evolution extending to the present day. Another consequence is that the present-day linguistic diversity might better reflect the properties of the design space for language and not just the vagaries of history, and could also contain traces of the languages spoken by other human forms such as the Neandertals.

Abstract

Understanding the patterns and causes of differential structural stability is an area of major interest for the study of language change and evolution. It is still debated whether structural features have intrinsic stabilities across language families and geographic areas, or if the processes governing their rate of change are completely dependent upon the specific context of a given language or language family. We conducted an extensive literature review and selected seven different approaches to conceptualising and estimating the stability of structural linguistic features, aiming at comparing them using the same dataset, the World Atlas of Language Structures. We found that, despite profound conceptual and empirical differences between these methods, they tend to agree in classifying some structural linguistic features as being more stable than others. This suggests that there are intrinsic properties of such structural features influencing their stability across methods, language families and geographic areas. This finding is a major step towards understanding the nature of structural linguistic features and their interaction with idiosyncratic, lineage- and area-specific factors during language change and evolution.

Abstract

Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and reduced risk of sick sinus syndrome, and both heart rate-increasing and heart rate-decreasing variants associate with risk of atrial fibrillation. Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets.

Abstract

Next-generation sequencing is set to transform the discovery of genes underlying neurodevelopmental disorders, and so off er important insights into the biological bases of spoken language. Success will depend on functional assessments in neuronal cell lines, animal models and humans themselves.

Abstract

Ependymal cells in the lateral ventricular wall are considered to be post-mitotic but can give rise to neuroblasts and astrocytes after stroke in adult mice due to insult-induced suppression of Notch signaling. The transcription factor FoxJ1, which has been used to characterize mouse ependymal cells, is also expressed by a subset of astrocytes. Cells expressing FoxJ1, which drives the expression of motile cilia, contribute to early postnatal neurogenesis in mouse olfactory bulb. The distribution and progeny of FoxJ1-expressing cells in rat forebrain are unknown. Here we show using immunohistochemistry that the overall majority of FoxJ1-expressing cells in the lateral ventricular wall of adult rats are ependymal cells with a minor population being astrocytes. To allow for long-term fate mapping of FoxJ1-derived cells, we used the piggyBac system for in vivo gene transfer with electroporation. Using this method, we found that FoxJ1-expressing cells, presumably the astrocytes, give rise to neuroblasts and mature neurons in the olfactory bulb both in intact and stroke-damaged brain of adult rats. No significant contribution of FoxJ1-derived cells to stroke-induced striatal neurogenesis was detected. These data indicate that in the adult rat brain, FoxJ1-expressing cells contribute to the formation of new neurons in the olfactory bulb but are not involved in the cellular repair after stroke.

Abstract

Current research on spoken language does not provide a consistent picture as to whether prosody, the melody and rhythm of speech, conveys a specific meaning. Perception studies show that English listeners assign meaning to prosodic patterns, and, for instance, associate some accents with contrast, whereas Dutch listeners behave more controversially. In two ERP studies we tested how Dutch listeners process words carrying two types of accents, which either provided new information (new information accents) or corrected information (corrective accents), both in single sentences (experiment 1) and after corrective and new information questions (experiment 2). In both experiments corrective accents elicited a sustained positivity as compared to new information accents, which started earlier in context than in single sentences. The positivity was not modulated by the nature of the preceding question, suggesting that the underlying neural mechanism likely reflects the construction of an interpretation to the accented word, either by identifying an alternative in context or by inferring it when no context is present. Our experimental results provide strong evidence for inferential processes related to prosodic contours in Dutch

Abstract

The notion that the form of a word bears an arbitrary relation to its meaning accounts only partly for the attested form to meaning correspondences in the world’s languages. Recent research suggests a more textured view of vocabulary structure, in which arbitrariness is complemented by iconicity (aspects of form resemble aspects of meaning) and systematicity (statistical regularities in forms predict function). Experimental evidence suggests these form to meaning correspondences serve different functions in language processing, development and communication: systematicity facilities category learning by means of phonological cues, iconicity facilitates word learning and communication by means of perceptuomotor analogies, and arbitrariness facilitates meaning individuation through distinctive forms. Processes of cultural evolution help explain how these competing motivations shape vocabulary structure.

Abstract

This article examines the relation between ideophones and gestures in a corpus of everyday discourse in Siwu, a richly ideophonic language spoken in Ghana. The overall frequency of ideophone-gesture couplings in everyday speech is lower than previously suggested, but two findings shed new light on the relation between ideophones and gesture. First, discourse type makes a difference: ideophone-gesture couplings are more frequent in narrative contexts, a finding that explains earlier claims, which were based not on everyday language use but on elicited narratives. Second, there is a particularly strong coupling between ideophones and one type of gesture: iconic gestures. This coupling allows us to better understand iconicity in relation to the affordances of meaning and modality. Ultimately, the connection between ideophones and iconic gestures is explained by reference to the depictive nature of both. Ideophone and iconic gesture are two aspects of the process of depiction

Abstract

Repetition is one of the most basic operations on talk, often discussed for its iconic meanings. Ideophones are marked words that depict sensory imagery, often identified by their reduplicated forms. Yet not all reduplication is iconic, and not all ideophones are reduplicated. This paper discusses the semantics and pragmatics of repeated talk (repetition as well as reduplication), with special focus on the intersection of reduplicative processes and ideophonic words. Various formal features of ideophones suggest that it is fruitful to distinguish two modes of representation in language —description and depiction— along with cues like prosodic foregrounding that can steer listeners’ interpretation from one to the other. What is special about reduplication is that it can naturally partake in both of these modes of representation, which is why it is so common in ideophones as well as in other areas of grammar. Using evidence from Siwu, Korean, Semai and a range of other languages, this paper shows how the study of ideophones sheds light on the interpretation of repeated talk and can lead to a more holistic understanding of reduplicative phenomena in language.

Abstract

A word like Huh?–used as a repair initiator when, for example, one has not clearly heard what someone just said– is found in roughly the same form and function in spoken languages across the globe. We investigate it in naturally occurring conversations in ten languages and present evidence and arguments for two distinct claims: that Huh? is universal, and that it is a word. In support of the first, we show that the similarities in form and function of this interjection across languages are much greater than expected by chance. In support of the second claim we show that it is a lexical, conventionalised form that has to be learnt, unlike grunts or emotional cries. We discuss possible reasons for the cross-linguistic similarity and propose an account in terms of convergent evolution. Huh? is a universal word not because it is innate but because it is shaped by selective pressures in an interactional environment that all languages share: that of other-initiated repair. Our proposal enhances evolutionary models of language change by suggesting that conversational infrastructure can drive the convergent cultural evolution of linguistic items.

Abstract

This special issue reports on a cross-linguistic study of other-initiated repair, a domain at the crossroads of language, mind, and social life. Other-initiated repair is part of a system of practices that people use to deal with problems of speaking, hearing and understanding. The contributions in this special issue describe the linguistic resources and interactional practices associated with other-initiated repair in ten different languages. Here we provide an overview of the research methods and the conceptual framework. The empirical base for the project consists of corpora of naturally occurring conversations, collected in fieldsites around the world. Methodologically, we combine qualitative analysis with a comparative-typological perspective, and we formulate principles for the cross-linguistic comparison of conversational structures. A key move, of broad relevance to pragmatic typology, is the recognition that formats for repair initiation form paradigm-like systems that are ultimately language-specific, and that comparison is best done at the level of the constitutive properties of these formats. These properties can be functional (concerning aspects of linguistic formatting) as well as sequential (concerning aspects of the interactional environment). We show how functional and sequential aspects of conversational structure can capture patterns of commonality and diversity in conversational structures within and across languages

Abstract

This article describes the interactional patterns and linguistic structures associated with other-initiated repair in Siwu, a Kwa language spoken in eastern Ghana. Other-initiated repair is the set of techniques used by people to deal with problems in speaking, hearing and understanding. Formats for repair initiation in Siwu exploit language-specific resources like question words and noun class morphology. At the same time, the basic structure of the system bears a strong similarity other-initiated repair in other languages. Practices described for Siwu thus are potentially of broader relevance to the study of other-initiated repair. This article documents how different prosodic realisations of repair initiators may index social actions and features of the speech event; how two distinct roles of repetition in repair initiators are kept apart by features of turn design; and what kinds of items can be treated as ‘dispensable’ in resayings. By charting how other-initiated repair uses local linguistic resources and yet is shaped by interactional needs that transcend particular languages, this study contributes to the growing field of pragmatic typology: the study of systems of language use and the principles that shape them

Abstract

There would be little adaptive value in a complex communication system like human language if there were no ways to detect and correct problems. A systematic comparison of conversation in a broad sample of the world’s languages reveals a universal system for the real-time resolution of frequent breakdowns in communication. In a sample of 12 languages of 8 language families of varied typological profiles we find a system of ‘other-initiated repair’, where the recipient of an unclear message can signal trouble and the sender can repair the original message. We find that this system is frequently used (on average about once per 1.4 minutes in any language), and that it has detailed common properties, contrary to assumptions of radical cultural variation. Unrelated languages share the same three functionally distinct types of repair initiator for signalling problems and use them in the same kinds of contexts. People prefer to choose the type that is the most specific possible, a principle that minimizes cost both for the sender being asked to fix the problem and for the dyad as a social unit. Disruption to the conversation is kept to a minimum, with the two-utterance repair sequence being on average no longer that the single utterance which is being fixed. The findings, controlled for historical relationships, situation types and other dependencies, reveal the fundamentally cooperative nature of human communication and offer support for the pragmatic universals hypothesis: while languages may vary in the organization of grammar and meaning, key systems of language use may be largely similar across cultural groups. They also provide a fresh perspective on controversies about the core properties of language, by revealing a common infrastructure for social interaction which may be the universal bedrock upon which linguistic diversity rests.

Abstract

Do people who speak different languages think differently, even when they are not using language? To find out, we used nonlinguistic psychophysical tasks to compare mental representations of musical pitch in native speakers of Dutch and Farsi. Dutch speakers describe pitches as high (hoog) or low (laag), whereas Farsi speakers describe pitches as thin (na-zok) or thick (koloft). Differences in language were reflected in differences in performance on two pitch-reproduction tasks, even though the tasks used simple, nonlinguistic stimuli and responses. To test whether experience using language influences mental representations of pitch, we trained native Dutch speakers to describe pitch in terms of thickness, as Farsi speakers do. After the training, Dutch speakers’ performance on a nonlinguistic psychophysical task resembled the performance of native Farsi speakers. People who use different linguistic space-pitch metaphors also think about pitch differently. Language can play a causal role in shaping nonlinguistic representations of musical pitch.

Abstract

The Levelt, Noort and Drenth Committees make their sole and final rejoinder to criticisms of their report on the Stapel fraud

Abstract

The dominantly inherited cerebellar ataxias are a heterogeneous group of neurodegenerative disorders caused by Purkinje cell loss in the cerebellum. Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previously unknown role for the voltage-gated potassium channel, Kv4.3, in Purkinje cell survival. However, how mutant Kv4.3 affects wild-type Kv4.3 channel functioning remains unknown. We provide evidence that SCA19/22-mutant Kv4.3 exerts a dominant negative effect on the trafficking and surface expression of wild-type Kv4.3 in the absence of its regulatory subunit, KChIP2. Notably, this dominant negative effect can be rescued by the presence of KChIP2. We also found that all SCA19/22-mutant subunits either suppress wild-type Kv4.3 current amplitude or alter channel gating in a dominant manner. Our findings suggest that altered Kv4.3 channel localization and/or functioning resulting from SCA19/22 mutations may lead to Purkinje cell loss, neurodegeneration and ataxia.

Abstract

The Aslian branch of Austroasiatic is recognised as the oldest recoverable language family in the Malay Peninsula, predating the now dominant Austronesian languages present today. In this paper we address the dynamics of the prehistoric spread of Aslian languages across the peninsula, including the languages spoken by Semang foragers, traditionally associated with the 'Negrito' phenotype. The received view of an early and uniform tripartite break-up of proto-Aslian in the Early Neolithic period, and subsequent differentiation driven by societal modes is challenged. We present a Bayesian phylogeographic analysis of our dataset of vocabulary from 28 Aslian varieties. An explicit geographic model of diffusion is combined with a cognate birth-word death model of lexical evolution to infer the location of the major events of Aslian cladogenesis. The resultant phylogenetic trees are calibrated against dates in the historical and archaeological record to extrapolate a detailed picture of Aslian language history. We conclude that a binary split between Southern Aslian and the rest of Aslian took place in the Early Neolithic (4000 BP). This was followed much later in the Late Neolithic (2000-3000 BP) by a tripartite branching into Central Aslian, Jah Hut and Northern Aslian. Subsequent internal divisions within these sub-clades took place in the Early Metal Phase (post-2000 BP). Significantly, a split in Northern Aslian between Ceq Wong and the languages of the Semang was a late development and is proposed here to coincide with the adoption of Aslian by the Semang foragers. Given the difficulties involved in associating archaeologically recorded activities with linguistic events, as well as the lack of historical sources, our results remain preliminary. However, they provide sufficient evidence to prompt a rethinking of previous models of both clado- and ethno-genesis within the Malay Peninsula.

Abstract

Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.

Abstract

Migraine is a disabling common brain disorder typically characterized by attacks of severe headache and associated with autonomic and neurological symptoms. Its etiology is far from resolved. This review will focus on evidence that epigenetic mechanisms play an important role in disease etiology. Epigenetics comprise both DNA methylation and post-translational modifications of the tails of histone proteins, affecting chromatin structure and gene expression. Besides playing a role in establishing cellular and developmental stage-specific regulation of gene expression, epigenetic processes are also important for programming lasting cellular responses to environmental signals. Epigenetic mechanisms may explain how non-genetic endogenous and exogenous factors such as female sex hormones, stress hormones and inflammation trigger may modulate attack frequency. Developing drugs that specifically target epigenetic mechanisms may open up exciting new avenues for the prophylactic treatment of migraine.

Abstract

Purpose of review: Migraine is a prevalent neurovascular brain disorder with a strong genetic component, and different methodological approaches have been implemented to identify the genes involved. This review focuses on pearls and pitfalls of these approaches and genetic findings in migraine. Summary: Common forms of migraine (i.e. migraine with and without aura) are thought to have a polygenic make-up, whereas rare familial hemiplegic migraine (FHM) presents with a monogenic pattern of inheritance. Until a few years ago only studies in FHM yielded causal genes, which were identified by a classical linkage analysis approach. Functional analyses of FHM gene mutations in cellular and transgenic animal models suggest abnormal glutamatergic neurotransmission as a possible key disease mechanism. Recently, a number of genes were discovered for the common forms of migraine using a genome-wide association (GWA) approach, which sheds first light on the pathophysiological mechanisms involved. Conclusions: Novel technological strategies such as next-generation sequencing, which can be implemented in future genetic migraine research, may aid the identification of novel FHM genes and promote the search for the missing heritability of common migraine.

Abstract

The perception of speech sounds can be re-tuned rapidly through a mechanism of lexically-driven learning (Norris et al 2003, Cogn.Psych. 47). Here we investigated this type of learning for English voiced stop consonants which are commonly de-voiced in word final position by Dutch learners of English . Specifically, this study asked under which conditions the change in pre-lexical representation encodes phonological information about the position of the critical sound within a word. After exposure to a Dutch learner’s productions of de-voiced stops in word-final position (but not in any other positions), British English listeners showed evidence of perceptual learning in a subsequent cross-modal priming task, where auditory primes with voiceless final stops (e.g., ‘seat’), facilitated recognition of visual targets with voiced final stops (e.g., SEED). This learning generalized to test pairs where the critical contrast was in word-initial position, e.g. auditory primes such as ‘town’ facilitated recognition of visual targets like DOWN (Experiment 1). Control listeners, who had not heard any stops by the speaker during exposure, showed no learning effects. The generalization to word-initial position did not occur when participants had also heard correctly voiced, word-initial stops during exposure (Experiment 2), and when the speaker was a native BE speaker who mimicked the word-final devoicing (Experiment 3). These results suggest that word position can be encoded in the pre-lexical adjustment to the accented phoneme contrast. Lexcially-guided feedback, distributional properties of the input, and long-term representations of accents all appear to modulate the pre-lexical re-tuning of phoneme categories.

Abstract

The study of language in relation to anthropological questions has deep and varied roots, from Humboldt and Boas, Malinowski and Vygotsky, Sapir and Whorf, Wittgenstein and Austin, through to the linguistic anthropologists of now. A recent book by the linguist Daniel Everett, language: the cultural tool (2012), aims to bring some of the issues to a popular audience, with a focus on the idea that language is a tool for social action. I argue in this essay that the book does not represent the state of the art in this field, falling short on three central desiderata of a good account for the social functions of language and its relation to culture. I frame these desiderata in terms of three questions, here termed the cognition question, the causality question, and the culture question. I look at the relevance of this work for socio-cultural anthropology, in the context of a major interdisciplinary pendulum swing that is incipient in the study of language today, a swing away from formalist, innatist perspectives, and towards functionalist, empiricist perspectives. The role of human diversity and culture is foregrounded in all of this work. To that extent, Everett’s book is representative, but the quality of his argument is neither strong in itself nor representative of a movement that ought to be of special interest to socio-cultural anthropologists.

Abstract

How are language, thought, and reality related? Interdisciplinary research on this question over the past two decades has made significant progress. Most of the work has been Neo-Whorfian in two senses: One, it has been driven by research questions that were articulated most explicitly and most famously by the linguistic anthropologist Benjamin Lee Whorf, and two, it has limited the scope of inquiry to Whorf's narrow interpretations of the key terms “language,” “thought,” and “reality.” This article first reviews some of the ideas and results of Neo-Whorfian work, concentrating on the special role of linguistic categorization in heuristic decision making. It then considers new and potential directions in work on linguistic relativity, taken broadly to mean the ways in which the perspective offered by a given language can affect thought (or mind) and reality. New lines of work must reconsider the idea of linguistic relativity by exploring the range of available interpretations of the key terms: in particular, “language” beyond reference, “thought” beyond nonsocial processing, and “reality” beyond brute, nonsocial facts.

Abstract

This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversation in the Lao language (a Southwestern Tai language spoken in Laos, Thailand, and Cambodia). The article reports findings specific to the Lao language from the comparative project that is the topic of this special issue. While the scope is general to the overall pattern of other-initiated repair as a set of practices and a system of semiotic resources, special attention is given to (1) the range of repair operations that are elicited by open other-initiators of repair in Lao, especially the subtle changes made when problem turns are repeated, and (2) the use of phrase-final particles—a characteristic feature of Lao grammar—in the marking of both other-initiations of repair and repair solution turns

Abstract

Review of the books "Virtually you. The dangerous powers of the e-personality", by Elias Aboujaoude; "The big disconnect. The story of technology and loneliness", by Giles Slade; and "Net smart. How to thrive online", by Howard Rheingold.

Abstract

Listeners show a remarkable ability to quickly adjust to degraded speech input. Here, we aimed to identify the neural mechanisms of such short-term perceptual adaptation. In a sparse-sampling, cardiac-gated functional magnetic resonance imaging (fMRI) acquisition, human listeners heard and repeated back 4-band-vocoded sentences (in which the temporal envelope of the acoustic signal is preserved, while spectral information is highly degraded). Clear-speech trials were included as baseline. An additional fMRI experiment on amplitude modulation rate discrimination quantified the convergence of neural mechanisms that subserve coping with challenging listening conditions for speech and non-speech. First, the degraded speech task revealed an “executive” network (comprising the anterior insula and anterior cingulate cortex), parts of which were also activated in the non-speech discrimination task. Second, trial-by-trial fluctuations in successful comprehension of degraded speech drove hemodynamic signal change in classic “language” areas (bilateral temporal cortices). Third, as listeners perceptually adapted to degraded speech, downregulation in a cortico-striato-thalamo-cortical circuit was observable. The present data highlight differential upregulation and downregulation in auditory–language and executive networks, respectively, with important subcortical contributions when successfully adapting to a challenging listening situation.

Abstract

In an auditory lexical decision experiment, 5,541 spoken content words and pseudo-words were presented to 20 native speakers of Dutch. The words vary in phonological makeup and in number of syllables and stress pattern, and are further representative of the native Dutch vocabulary in that most are morphologically complex, comprising two stems or one stem plus derivational and inflectional suffixes, with inflections representing both regular and irregular paradigms; the pseudo-words were matched in these respects to the real words. The BALDEY data file includes response times and accuracy rates, with for each item morphological information plus phonological and acoustic information derived from automatic phonemic segmentation of the stimuli. Two initial analyses illustrate how this data set can be used. First, we discuss several measures of the point at which a word has no further neighbors, and compare the degree to which each measure predicts our lexical decision response outcomes. Second, we investigate how well four different measures of frequency of occurrence (from written corpora, spoken corpora, subtitles and frequency ratings by 70 participants) predict the same outcomes. These analyses motivate general conclusions about the auditory lexical decision task. The (publicly available) BALDEY database lends itself to many further analyses.

Abstract

This article presents two studies investigating how the situation in which speech is uttered affects the frequency with which words are reduced. Study 1 is based on the Spoken Dutch Corpus, which consists of 15 components, nearly all representing a different speech situation. This study shows that the components differ in how often ten semantically weak words are highly reduced. The differences are especially large between the components with scripted and unscripted speech. Within the component group of unscripted speech, the formality of the situation shows an effect. Study 2 investigated segment reduction in a shadowing experiment in which participants repeated Dutch carefully and casually articulated sentences. Prefixal schwa and suffixal /t/ were absent in participants' responses to both sentences types as often as in formal interviews. If a segment was absent, this appeared to be mostly due to extreme co-articulation, unlike in speech produced in less formal situations. Speakers thus adapted more to the formal situation of the experiment than to the stimuli to be shadowed. We conclude that speech situation affects the occurrence of reduced word pronunciation variants, which should be accounted for by psycholinguistic models of speech production and comprehension

Abstract

This study examines the effect of L2 and L3 proficiency on L3 word learning. Native speakers of Spanish with different proficiencies in L2 English and L3 Dutch and a control group of Dutch native speakers participated in a Dutch word learning task involving minimal and non-minimal word pairs. The minimal word pairs were divided into ‘minimal-easy’ and ‘minimal-difficult’ pairs on the basis of whether or not they are known to pose perceptual problems for L1 Spanish learners. Spanish speakers’ proficiency in Dutch and English was independently established by their scores on general language comprehension tests. All participants were trained and subsequently tested on the mapping between pseudo-words and non-objects. The results revealed that, first, both native and non-native speakers produced more errors and longer reaction times for minimal than for non-minimal word pairs, and secondly, Spanish learners had more errors and longer reaction times for minimal-difficult than for minimal-easy pairs. The latter finding suggests that there is a strong continuity between sound perception and L3 word recognition. With respect to proficiency, only the learner’s proficiency in their L2, namely English, predicted their accuracy on L3 minimal pairs. This shows that learning an L2 with a larger vowel inventory than the L1 is also beneficial for word learning in an L3 with a similarly large vowel inventory.

Abstract

Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women. We measured erythrocyte Cu, Se and Zn (Australian samples) or whole blood Se (UK samples) using inductively coupled plasma mass spectrometry. Genotyping was performed with Illumina chips and > 2.5 m SNPs were imputed from HapMap data. Genome-wide significant associations were found for each element. For Cu, there were two loci on chromosome 1 (most significant SNPs rs1175550, P = 5.03 × 10(-10), and rs2769264, P = 2.63 × 10(-20)); for Se, a locus on chromosome 5 was significant in both cohorts (combined P = 9.40 × 10(-28) at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P = 6.40 × 10(-12); rs2120019, P = 1.55 × 10(-18); and rs4826508, P = 1.40 × 10(-12), respectively). The Se locus covers three genes involved in metabolism of sulphur-containing amino acids and potentially of the analogous Se compounds; the chromosome 8 locus for Zn contains multiple genes for the Zn-containing enzyme carbonic anhydrase. Where potentially relevant genes were identified, they relate to metabolism of the element (Se) or to the presence at high concentration of a metal-containing protein (Cu).

Abstract

Author SummaryThe standard approach in genome-wide association studies is to analyse the relationship between genetic variants and disease one marker at a time. Significant associations between markers and disease are then used as evidence to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically only explain small amounts of disease risk. Our idea is to construct allelic scores that explain greater proportions of the variance in biological intermediates than single markers, and then use these scores to data mine genome-wide association studies. We show how allelic scores derived from known variants as well as allelic scores derived from hundreds of thousands of genetic markers across the genome explain significant portions of the variance in body mass index, levels of C-reactive protein, and LDLc cholesterol, and many of these scores show expected correlations with disease. Power calculations confirm the feasibility of scaling our strategy to the analysis of tens of thousands of molecular phenotypes in large genome-wide meta-analyses. Our method represents a simple way in which tens of thousands of molecular phenotypes could be screened for potential causal relationships with disease.

Abstract

We summarize a number of findings in laryngology demonstrating that perturbations of phonation, including increased jitter and shimmer, are associated with desiccated ambient air. We predict that, given the relative imprecision of vocal fold vibration in desiccated versus humid contexts, arid and cold ecologies should be less amenable, when contrasted to warm and humid ecologies, to the development of languages with phonemic tone, especially complex tone. This prediction is supported by data from two large independently coded databases representing 3,700+ languages. Languages with complex tonality have generally not developed in very cold or otherwise desiccated climates, in accordance with the physiologically based predictions. The predicted global geographic–linguistic association is shown to operate within continents, within major language families, and across language isolates. Our results offer evidence that human sound systems are influenced by environmental factors.

Abstract

Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we performed a population-based genome-wide association study of 'age at first tooth' and 'number of teeth' using 5998 and 6609 individuals, respectively, from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2 446 724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of 15 independent loci, with 10 loci reaching genome-wide significance (P < 5 × 10(-8)) for 'age at first tooth' and 11 loci for 'number of teeth'. Together, these associations explain 6.06% of the variation in 'age of first tooth' and 4.76% of the variation in 'number of teeth'. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including an SNP in the protein-coding region of BMP4 (rs17563, P = 9.080 × 10(-17)). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development.

Abstract

This article focuses on “perceptual syntax”, the faculty to process patterns in sensory stimuli. Specifically, this study addresses the ability to perceptually connect elements that are: (1) of the same sensory modality; (2) spatially and temporally non-adjacent; or (3) within multiple sensorial domains. The underlying hypothesis is that in each animal species, this core cognitive faculty enables the perception of the environment-world (Umwelt) and consequently the possibility to survive within it. Importantly, it is suggested that in doing so, perceptual syntax determines (and guides) each species’ ontological access to the world. In support of this hypothesis, research on perceptual syntax in nonverbal individuals (preverbal infants and nonhuman animals) and humans is reviewed. This comparative approach results in theoretical remarks on human cognition and ontology, pointing to the conclusion that the ability to map cross-modal connections through verbal language is what makes humans’ form of life species-typical.

Abstract

The aim of this paper is to help refine the definition of humans as “linguistic animals” in light of a comparative approach on nonhuman animals’ cognitive systems. As Uexküll & Kriszat (1934/1992) have theorized, the epistemic access to each species-specific environment (Umwelt) is driven by different biocognitive processes. Within this conceptual framework, I identify the salient cognitive process that distinguishes each species typical perception of the world as the faculty of language meant in the following operational definition: the ability to connect different elements according to structural rules. In order to draw some conclusions about humans’ specific faculty of language, I review different empirical studies on nonhuman animals’ ability to recognize formal patterns of tokens. I suggest that what differentiates human language from other animals’ cognitive systems is the ability to categorize the units of a pattern, going beyond its perceptual aspects. In fact, humans are the only species known to be able to combine semantic units within a network of combinatorial logical relationships (Deacon 1997) that can be linked to the state of affairs in the external world (Wittgenstein 1922). I assume that this ability is the core cognitive process underlying a) the capacity to speak (or to reason) in verbal propositions and b) the general human faculty of language expressed, for instance, in the ability to draw visual conceptual maps or to compute mathematical expressions. In light of these considerations, I conclude providing some research questions that could lead to a more detailed comparative exploration of the faculty of language.

Abstract

State-of-the-art DNA sequencing is providing ever more detailed insights into the genomes of humans, extant apes, and even extinct hominins (1–3), offering unprecedented opportunities to uncover the molecular variants that make us human. A common assumption is that the emergence of behaviorally modern humans after 200,000 years ago required—and followed—a specific biological change triggered by one or more genetic mutations. For example, Klein has argued that the dawn of human culture stemmed from a single genetic change that “fostered the uniquely modern ability to adapt to a remarkable range of natural and social circumstance” (4). But are evolutionary changes in our genome a cause or a consequence of cultural innovation (see the figure)?

Abstract

Theories addressing the biological basis of language must be built on
an appreciation of the ways that molecular and neurobiological substrates
can contribute to aspects of human cognition. Here, we lay out
the principles by which a genome could potentially encode the necessary
information to produce a language-ready brain. We describe
what genes are; how they are regulated; and how they affect the formation,
function, and plasticity of neuronal circuits. At each step,
we give examples of molecules implicated in pathways that are important
for speech and language. Finally, we discuss technological advances
in genomics that are revealing considerable genotypic variation in
the human population, from rare mutations to common polymorphisms,
with the potential to relate this variation to natural variability
in speech and language skills. Moving forward, an interdisciplinary
approach to the language sciences, integrating genetics, neurobiology,
psychology, and linguistics, will be essential for a complete understanding
of our unique human capacities.

Abstract

Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.

Abstract

The testimony of others and direct experience play a major role in the development of children's knowledge. Children actively use questions to seek others' testimony and explore the environment. It is unclear though whether children distinguish when it is better to ask from when it is better to try to find an answer by oneself. In 2 experiments, we examined the ability of 4- and 6-year-olds to select between looking and asking to determine visible and invisible properties of entities (e.g., hair color vs. knowledge of French). All children chose to look more often for visible than invisible properties. However, only 6-year-olds chose above chance to look for visible properties and to ask for invisible properties. Four-year-olds showed a preference for looking in one experiment and asking in the other. The results suggest substantial development in the efficacy of children's learning in early childhood.

Abstract

The typological contrast between verb- and satellite-framed languages (Talmy, 1985) has set the basis for many empirical studies on L2 acquisition. The current analysis goes beyond this typology by looking in detail at the conceptualization of the path of motion in a motion event. We take as a starting point the cognitive salience of specific elements of motion events that are relevant when conceptualizing space. When expressing direction in French, specific spatial relations involving the entity in motion (its alignment and its distance toward a [potential] endpoint) are relevant, given a variety of path verbs in the lexicon expressing this information (e.g., se diriger vers, avancer to direct oneself toward,' to advance'). This is not the case in German (manner verbs in the lexicon mainly). In German, spatial information is packaged in adjuncts and particles and the path of motion is typically structured via features of the ground (entlanglaufen/fahren to walk/drive along') or endpoints (to walk/drive to/toward'). We investigate those fundamental differences in spatial conceptualization in French and German, as reflected in pre-articulatory patterns of attention allocation (measured with eye tracking) to moving entities and endpoints in motion scenes in an event description task. Our focus is on spatial conceptualization in an L2 (French L2 users of German), analyzing the extent to which these L2 users display target-like patterns or traces of L1 conceptualization transfer. Findings show that, in line with directional concepts expressed in verbs, L1 French speakers allocate more attention to entities in motion and endpoints, before utterance onset, than L1 German speakers do. The L2 German speakers pattern with L1 German speakers in the use of manner verbs, but they have not fully acquired the spatial concepts and means that structure the path of motion in the L2. This is reflected in pre-articulatory attention allocation patterns, according to which the L2 speakers pattern with native speakers of their L1 (French). The findings show a continued deep entrenchment of L1-based processing patterns and spatial frames of reference when speakers prepare for speech in an L2

Abstract

Studies on gaze allocation during sentence production have recently begun to implement cross-linguistic analyses in the investigation of visual and linguistic processing. The underlying assumption is that the aspects of a scene that attract attention prior to articulation are, in part, linked to the specifi c linguistic system and means used for expression. The present study concerns naturalistic, dynamic scenes (video clips) showing causative events (agent acting on an object) and exploits grammatical diff erences in the domain of verbal aspect, and the way in which the status of an event (a specifi c vs. habitual instance of an event) is encoded in English and German. Fixations in agent and action areas of interest were timelocked to utterance onset, and we focused on the pre-articulatory time span to shed light on sentence planning processes, involving message generation and scene conceptualization.

Abstract

We investigated whether brain potentials of grammatical aspect processing resemble semantic or morpho-syntactic processing, or whether they instead are characterized by an entirely distinct pattern in the same individuals. We studied aspect from the perspective of agreement between the temporal information in the context (temporal adverbials, e.g., Right now) and a morpho-syntactic marker of grammatical aspect (e.g., progressive is swimming). Participants read questions providing a temporal context that was progressive (What is Sophie doing in the pool right now?) or habitual (What does Sophie do in the pool every Monday?). Following a lead-in sentence context such as Right now, Sophie…, we measured event-related brain potentials (ERPs) time-locked to verb phrases in four different conditions, e.g., (a) is swimming (control); (b) ∗is cooking (semantic violation); (c) ∗are swimming (morpho-syntactic violation); or (d)?swims (aspect mismatch); …in the pool.” The collected ERPs show typical N400 and P600 effects for semantics and morpho-syntax, while aspect processing elicited an Early Negativity (250–350 ms). The aspect-related Negativity was short-lived and had a central scalp distribution with an anterior onset. This differentiates it not only from the semantic N400 effect, but also from the typical LAN (Left Anterior Negativity), that is frequently reported for various types of agreement processing. Moreover, aspect processing did not show a clear P600 modulation. We argue that the specific context for each item in this experiment provided a trigger for agreement checking with temporal information encoded on the verb, i.e., morphological aspect marking. The aspect-related Negativity obtained for aspect agreement mismatches reflects a violated expectation concerning verbal inflection (in the example above, the expected verb phrase was Sophie is X-ing rather than Sophie X-s in condition d). The absence of an additional P600 for aspect processing suggests that the mismatch did not require additional reintegration or processing costs. This is consistent with participants’ post hoc grammaticality judgements of the same sentences, which overall show a high acceptability of aspect mismatch sentences.

Abstract

Recent studies have identified neural correlates of language effects on perception in static domains of experience such as colour and objects. The generalization of such effects to dynamic domains like motion events remains elusive. Here, we focus on grammatical differences between languages relevant for the description of motion events and their impact on visual scene perception. Two groups of native speakers of German or English were presented with animated videos featuring a dot travelling along a trajectory towards a geometrical shape (endpoint). English is a language with grammatical aspect in which attention is drawn to trajectory and endpoint of motion events equally. German, in contrast, is a non-aspect language which highlights endpoints. We tested the comparative perceptual saliency of trajectory and endpoint of motion events by presenting motion event animations (primes) followed by a picture symbolising the event (target): In 75% of trials, the animation was followed by a mismatching picture (both trajectory and endpoint were different); in 10% of trials, only the trajectory depicted in the picture matched the prime; in 10% of trials, only the endpoint matched the prime; and in 5% of trials both trajectory and endpoint were matching, which was the condition requiring a response from the participant. In Experiment 1 we recorded event-related brain potentials elicited by the picture in native speakers of German and native speakers of English. German participants exhibited a larger P3 wave in the endpoint match than the trajectory match condition, whereas English speakers showed no P3 amplitude difference between conditions. In Experiment 2 participants performed a behavioural motion matching task using the same stimuli as those used in Experiment 1. German and English participants did not differ in response times showing that motion event verbalisation cannot readily account for the difference in P3 amplitude found in the first experiment. We argue that, even in a non-verbal context, the grammatical properties of the native language and associated sentence-level patterns of event encoding influence motion event perception, such that attention is automatically drawn towards aspects highlighted by the grammar.

Abstract

This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversation in the Cha’palaa (a Barbacoan language spoken in north-western Ecuador). Special attention is given to the relation of repair formats to the morphosyntactic and intonational systems of the language. It examines the distinctive falling intonation observed with interjections and content question formats and the pattern of a held mid-high tone observed in polarity questions, as well as the function of Cha’palaa grammatical features such as the case marking system, the nominal classifiers and the verb classification system as formats for repair initiation. It considers a selection of examples from a video corpus to illustrate a broad range of sequence types of opened and restricted other-initiated repair, noting that Cha’palaa had the highest relative rate of open repair in the cross-linguistic sample. It also considers the extension of OIR to other practices such as news uptake and disagreement in the Cha’palaa corpus.

Abstract

The ethnographic literature has described the northwest Amazon as an area of shared culture across linguistic groups. This paper illustrates how a principle of semantic transparency across languages is a key means of establishing elements of a common regional culture through practices like the calquing of ethnonyms and toponyms so that they are semantically, but not phonologically, equivalent across languages. It places the northwest Amazon in a general discussion of cross-linguistic naming practices in South America and considers the extent to which a preference for semantic transparency can be linked to cases of widespread cultural “calquing”. It also addresses the principle of semantic transparency beyond specific referential phrases and into larger discourse structures. It concludes that an attention to semiotic practices in multilingual settings can provide new and more complex ways of thinking about the idea of shared culture

Abstract

The nineteenth century witnessed some of the greatest neuroanatomists of all times. Amongst them is the largely forgotten Heinrich Sachs, a student of Carl Wernicke in Breslau.

Abstract

This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work.

Abstract

Previous studies suggest that linguistic material can modulate visual perception, but it is unclear at which level of processing these interactions occur. Here we aim to dissociate between two competing models of language–perception interactions: a feed-forward and a feedback model. We capitalized on the fact that the models make different predictions on the role of feedback. We presented unmasked (aware) or masked (unaware) words implying motion (e.g. “rise,” “fall”), directly preceding an upward or downward visual motion stimulus. Crucially, masking leaves intact feed-forward information processing from low- to high-level regions, whereas it abolishes subsequent feedback. Under this condition, participants remained faster and more accurate when the direction implied by the motion word was congruent with the direction of the visual motion stimulus. This suggests that language–perception interactions are driven by the feed-forward convergence of linguistic and perceptual information at higher-level conceptual and decision stages.

Abstract

Previous studies have shown that language can modulate visual perception, by biasing and/
or enhancing perceptual performance. However, it is still debated where in the brain visual and
linguistic information are integrated, and whether the effects of language on perception are
automatic and persist even in the absence of awareness of the linguistic material. Here, we aimed
to explore the automaticity of language-perception interactions and the neural loci of these
interactions in an fMRI study. Participants engaged in a visual motion discrimination task (upward
or downward moving dots). Before each trial, a word prime was briefly presented that implied
upward or downward motion (e.g., “rise”, “fall”). These word primes strongly influenced behavior:
congruent motion words sped up reaction times and improved performance relative to incongruent
motion words. Neural congruency effects were only observed in the left middle temporal gyrus,
showing higher activity for congruent compared to incongruent conditions. This suggests that higherlevel
conceptual areas rather than sensory areas are the locus of language-perception interactions.
When motion words were rendered unaware by means of masking, they still affected visual motion
perception, suggesting that language-perception interactions may rely on automatic feed-forward
integration of perceptual and semantic material in language areas of the brain.

Abstract

Perception does not function as an isolated module but is tightly linked with other cognitive functions. Several studies have demonstrated an influence of language on motion perception, but it remains debated at which level of processing this modulation takes place. Some studies argue for an interaction in perceptual areas, but it is also possible that the interaction is mediated by "language areas" that integrate linguistic and visual information. Here, we investigated whether language-perception interactions were specific to the language-dominant left hemisphere by comparing the effects of language on visual material presented in the right (RVF) and left visual fields (LVF). Furthermore, we determined the neural locus of the interaction using fMRI. Participants performed a visual motion detection task. On each trial, the visual motion stimulus was presented in either the LVF or in the RVF, preceded by a centrally presented word (e.g., "rise"). The word could be congruent, incongruent, or neutral with regard to the direction of the visual motion stimulus that was presented subsequently. Participants were faster and more accurate when the direction implied by the motion word was congruent with the direction of the visual motion stimulus. Interestingly, the speed benefit was present only for motion stimuli that were presented in the RVF. We observed a neural counterpart of the behavioral facilitation effects in the left middle temporal gyrus, an area involved in semantic processing of verbal material. Together, our results suggest that semantic information about motion retrieved in language regions may automatically modulate perceptual decisions about motion.

Abstract

Lateralizations of brain structure and motor behavior have been observed in humans as early as the first trimester of gestation, and are likely to arise from asymmetrical genetic–developmental programs, as in other animals. Studies of gene expression levels in postmortem tissue samples, comparing the left and right sides of the human cerebral cortex, have generally not revealed striking transcriptional differences between the hemispheres. This is likely due to lateralization of gene expression being subtle and quantitative. However, a recent re-analysis and meta-analysis of gene expression data from the adult superior temporal and auditory cortex found lateralization of transcription of genes involved in synaptic transmission and neuronal electrophysiology. Meanwhile, human subcortical mid- and hindbrain structures have not been well studied in relation to lateralization of gene activity, despite being potentially important developmental origins of asymmetry. Genetic polymorphisms with small effects on adult brain and behavioral asymmetries are beginning to be identified through studies of large datasets, but the core genetic mechanisms of lateralized human brain development remain unknown. Identifying subtly lateralized genetic networks in the brain will lead to a new understanding of how neuronal circuits on the left and right are differently fine-tuned to preferentially support particular cognitive and behavioral functions.

Abstract

Models of speech production explain event-related suppression of the auditory cortical
response as reflecting a comparison between auditory predictions and feedback. The present MEG
study was designed to test two predictions from this framework: 1) whether the reduced auditory
response varies as a function of the mismatch between prediction and feedback; 2) whether individual
variation in this response is predictive of speech-motor adaptation.
Participants alternated between online imitation and listening tasks. In the imitation task, participants
began each trial producing the same vowel (/e/) and subsequently listened to and imitated auditorilypresented
vowels varying in acoustic distance from /e/.
Results replicated suppression, with a smaller M100 during speaking than listening. Although we did
not find unequivocal support for the first prediction, participants with less M100 suppression were
better at the imitation task. These results are consistent with the enhancement of M100 serving as an
error signal to drive subsequent speech-motor adaptation.

Abstract

PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. The present study examined molecular and phenotypic characteristics of individuals with germline heterozygous PTEN mutations and autism spectrum disorder (ASD) (PTEN-ASD), with the aim of identifying pathophysiologic markers that specifically associate with PTEN-ASD and that may serve as targets for future treatment trials. PTEN-ASD patients (n=17) were compared with idiopathic (non-PTEN) ASD patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=14). Group differences were evaluated for PTEN pathway protein expression levels, global and regional structural brain volumes and cortical thickness measures, neurocognition and adaptive behavior. RNA expression patterns and brain characteristics of a murine model of Pten mislocalization were used to further evaluate abnormalities observed in human PTEN-ASD patients. PTEN-ASD had a high proportion of missense mutations and showed reduced PTEN protein levels. Compared with the other groups, prominent white-matter and cognitive abnormalities were specifically associated with PTEN-ASD patients, with strong reductions in processing speed and working memory. White-matter abnormalities mediated the relationship between PTEN protein reductions and reduced cognitive ability. The Ptenm3m4 murine model had differential expression of genes related to myelination and increased corpus callosum. Processing speed and working memory deficits and white-matter abnormalities may serve as useful features that signal clinicians that PTEN is etiologic and prompting referral to genetic professionals for gene testing, genetic counseling and cancer risk management; and could reveal treatment targets in trials of treatments for PTEN-ASD.

Abstract

In list learning paradigms with free recall, written recall has been found to be less susceptible to intrusions of related concepts than spoken recall when the list items had been visually presented. This effect has been ascribed to the use of stored orthographic representations from the study phase during written recall (Kellogg, 2001). In other memory retrieval paradigms, by contrast, either better recall for modality-congruent items or an input-independent writing superiority effect have been found (Grabowski, 2005). In a series of four experiments using a paired associate learning paradigm we tested (a) whether output modality effects on verbal recall can be replicated in a paradigm that does not involve the rejection of semantically related intrusion words, (b) whether a possible superior performance for written recall was due to a slower response onset for writing as compared to speaking in immediate recall, and (c) whether the performance in paired associate word recall was correlated with performance in an additional episodic memory recall task. We observed better written recall in the first half of the recall phase, irrespective of the modality in which the material was presented upon encoding. An explanation for this effect based on longer response latencies for writing and hence more time for memory retrieval could be ruled out by showing that the effect persisted in delayed response versions of the task. Although there was some evidence that stored additional episodic information may contribute to the successful retrieval of associate words, this evidence was only found in the immediate response experiments and hence is most likely independent from the observed output modality effect. In sum, our results from a paired associate learning paradigm suggest that superior performance for written vs. spoken recall cannot be (solely) explained in terms of additional access to stored orthographic representations from the encoding phase. Our findings rather suggest a general writing-superiority effect at the time of memory retrieval.

Abstract

The past two decades have seen an upsurge of interest in the collective behaviors of complex systems composed of many agents entrained to each other and to external events. In this paper, we extend the concept of entrainment to the dynamics of human collective attention. We conducted a detailed investigation of the unfolding of human entrainment—as expressed by the content and patterns of hundreds of thousands of messages on Twitter—during the 2012 US presidential debates. By time-locking these data sources, we quantify the impact of the unfolding debate on human attention at three time scales. We show that collective social behavior covaries second-by-second to the interactional dynamics of the debates: A candidate speaking induces rapid increases in mentions of his name on social media and decreases in mentions of the other candidate. Moreover, interruptions by an interlocutor increase the attention received. We also highlight a distinct time scale for the impact of salient content during the debates: Across well-known remarks in each debate, mentions in social media start within 5–10 seconds after it occurs; peak at approximately one minute; and slowly decay in a consistent fashion across well-known events during the debates. Finally, we show that public attention after an initial burst slowly decays through the course of the debates. Thus we demonstrate that large-scale human entrainment may hold across a number of distinct scales, in an exquisitely time-locked fashion. The methods and results pave the way for careful study of the dynamics and mechanisms of large-scale human entrainment.

Abstract

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2·17 × 10−5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3·50 × 10−4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.

Abstract

In this paper we present the first results of the application of computational methods, inspired by the ideas in McMahon & McMahon (2005), to a dataset collected from languages of every branch of the Tupian family (including all living non-Tupí-Guaraní languages) in order to produce a classification of the family based on lexical distance. We used both a Swadesh list (with historically stabler terms) and a list of animal and plant names for results comparison. In addition, we also selected more (HiHi) and less (LoLo) stable terms from the Swadesh list to form sublists for indepedent treatment. We compared the resulting NeighborNet networks and neighbor-joining cladograms and drew conclusions about their significance for the current understanding of the classification of Tupian languages. One important result is the lack of support for the currently discussed idea of an Eastern-Western division within Tupí

Abstract

The present study investigated whether Short Message Service shortcuts are more difficult to process in sentence context than the spelled-out word equivalent and, if so, how any additional processing difficulty arises. Twenty-four student participants read 37 Short Message Service shortcuts and word equivalents embedded in semantically plausible and implausible contexts (e.g., He left/drank u/you a note) while their eye movements were recorded. There were effects of plausibility and spelling on early measures of processing difficulty (first fixation durations, gaze durations, skipping, and first-pass regression rates for the targets), but there were no interactions of plausibility and spelling. Late measures of processing difficulty (second run gaze duration and total fixation duration) were only affected by plausibility but not by spelling. These results suggest that shortcuts are harder to recognize, but that, once recognized, they are integrated into the sentence context as easily as ordinary words.

Abstract

Mutations of the forkhead transcription factor FOXP2 gene have been implicated in inherited speech-and-language disorders, and specific Foxp2 expression patterns in neuronal populations and neuronal phenotypes arising from Foxp2 disruption have been described. However, molecular functions of FOXP2 are not completely understood. Here we report a requirement for FOXP2 in growth arrest of the osteosarcoma cell line 143B. We observed endogenous expression of this transcription factor both transiently in normally developing murine osteoblasts and constitutively in human SAOS-2 osteosarcoma cells blocked in early osteoblast development. Critically, we demonstrate that in 143B osteosarcoma cells with minimal endogenous expression, FOXP2 induced by growth arrest is required for up-regulation of p21WAF1/CIP1. Upon growth factor withdrawal, FOXP2 induction occurs rapidly and precedes p21WAF1/CIP1 activation. Additionally, FOXP2 expression could be induced by MAPK pathway inhibition in growth-arrested 143B cells, but not in traditional cell line models of osteoblast differentiation (MG-63, C2C12, MC3T3-E1). Our data are consistent with a model in which transient upregulation of Foxp2 in pre-osteoblast mesenchymal cells regulates a p21-dependent growth arrest checkpoint, which may have implications for normal mesenchymal and osteosarcoma biology

Abstract

The Perceptual Loop Theory of speech monitoring assumes that speakers routinely inspect their inner speech. In contrast, Huettig and Hartsuiker (2010) observed that listening to one’s own speech during language production drives eye-movements to phonologically related printed words with a similar time-course as listening to someone else’s speech does in speech perception experiments. This suggests that speakers listen to their own overt speech, but not to their inner speech. However, a direct comparison between production and perception with the same stimuli and participants is lacking so far. The current printed word eye-tracking experiment therefore used a within-subjects design, combining production and perception. Displays showed four words, of which one, the target, either had to be named or was presented auditorily. Accompanying words were phonologically related, semantically related, or unrelated to the target. There were small increases in looks to phonological competitors with a similar time-course in both production and perception. Phonological effects in perception however lasted longer and had a much larger magnitude. We conjecture that this difference is related to a difference in predictability of one’s own and someone else’s speech, which in turn has consequences for lexical competition in other-perception and possibly suppression of activation in self-perception.

Abstract

Our species displays remarkable linguistic diversity. While the uneven distribution of this diversity demands explanation, the drivers of these patterns have not been conclusively determined. We address this issue in two steps. First, we review previous empirical studies that have suggested environmental, geographical, and socio-cultural drivers of linguistic diversification. However, contradictory results and methodological variation make it difficult to draw general conclusions. Second, we outline a program for future research. We suggest that future analyses should account for interactions among causal factors, lack of spatial and phylogenetic independence of data, and transitory patterns. Recent analytical advances in biogeography and evolutionary biology, such as simulation modeling of diversity patterns, hold promise for testing four key mechanisms of language diversification proposed here: neutral change, population movement, contact, and selection. Future modeling approaches should also evaluate how the outcomes of these processes are influenced by demography, environmental heterogeneity, and time.

Abstract

Importance 
Neuroticism is a pervasive risk factor for psychiatric conditions. It genetically overlaps with major depressive disorder (MDD) and is therefore an important phenotype for psychiatric genetics. The Genetics of Personality Consortium has created a resource for genome-wide association analyses of personality traits in more than 63 000 participants (including MDD cases).Objectives
To identify genetic variants associated with neuroticism by performing a meta-analysis of genome-wide association results based on 1000 Genomes imputation; to evaluate whether common genetic variants as assessed by single-nucleotide polymorphisms (SNPs) explain variation in neuroticism by estimating SNP-based heritability; and to examine whether SNPs that predict neuroticism also predict MDD.Design, Setting, and Participants
Genome-wide association meta-analysis of 30 cohorts with genome-wide genotype, personality, and MDD data from the Genetics of Personality Consortium. The study included 63 661 participants from 29 discovery cohorts and 9786 participants from a replication cohort. Participants came from Europe, the United States, or Australia. Analyses were conducted between 2012 and 2014.Main Outcomes and Measures
Neuroticism scores harmonized across all 29 discovery cohorts by item response theory analysis, and clinical MDD case-control status in 2 of the cohorts.Results
A genome-wide significant SNP was found on 3p14 in MAGI1 (rs35855737; P = 9.26 × 10−9 in the discovery meta-analysis). This association was not replicated (P = .32), but the SNP was still genome-wide significant in the meta-analysis of all 30 cohorts (P = 2.38 × 10−8). Common genetic variants explain 15% of the variance in neuroticism. Polygenic scores based on the meta-analysis of neuroticism in 27 cohorts significantly predicted neuroticism (1.09 × 10−12 <} P {<} .05) and MDD (4.02 × 10−9 {<} P {< .05) in the 2 other cohorts.Conclusions and Relevance
This study identifies a novel locus for neuroticism. The variant is located in a known gene that has been associated with bipolar disorder and schizophrenia in previous studies. In addition, the study shows that neuroticism is influenced by many genetic variants of small effect that are either common or tagged by common variants. These genetic variants also influence MDD. Future studies should confirm the role of the MAGI1 locus for neuroticism and further investigate the association of MAGI1 and the polygenic association to a range of other psychiatric disorders that are phenotypically correlated with neuroticism.

Abstract

Does spatial language influence how people think about space? To address this question, we observed children who did not know a conventional language, and tested their performance on nonlinguistic spatial tasks. We studied deaf children living in Istanbul whose hearing losses prevented them from acquiring speech and whose hearing parents had not exposed them to sign. Lacking a conventional language, the children used gestures, called homesigns, to communicate. In Study 1, we asked whether homesigners used gesture to convey spatial relations, and found that they did not. In Study 2, we tested a new group of homesigners on a Spatial Mapping Task, and found that they performed significantly worse than hearing Turkish children who were matched to the deaf children on another cognitive task. The absence of spatial language thus went hand-in-hand with poor performance on the nonlinguistic spatial task, pointing to the importance of spatial language in thinking about space.

Abstract

The acquisition of linguistic structures that require perspective-taking at the level of message generation is challenging. We investigate use of progressive aspect in L2 event encoding, using a sentence priming paradigm. We focus on Dutch, in which use of progressive aspect is optional. The progressive consists of a prepositional phrase (‘aan het,’ at-the), plus a verbal infinitive. We ask, to what extent L2 speakers, in comparison to native speakers, show priming effects in relation to form (prepositional phrase) or conceptual (progressive aspect) prime sentences. In native Dutch speakers we find a priming effect for the ‘progressive prime,’ compared to a ‘neutral prime’ (aspectually neutral event description). In L2 speakers this effect was absent. For the form prime, no priming effects were obtained in native speakers, rather, we find evidence for a partial blocking effect in L2 speakers. Results suggest that the strength of the link between concept and form of progressive aspect differs in native and L2 speakers. Specific factors contributed to the L2 findings, e.g., level of L2 proficiency and degree of L2 exposure. We conclude that (1) the conceptual basis of grammatical aspect can be primed in native speakers, and (2) in L2 speakers, access to conceptual information is less automatized.

Abstract

Gricean pragmatics has often been criticised for being implausible from a psychological point of view. This line of criticism is never backed up by empirical evidence, but more importantly, it ignores the fact that Grice never meant to advance a processing theory, in the first place. Taking our lead from Marr (1982), we distinguish between two levels of explanation: at the W-level, we are concerned with what agents do and why; at the H-level, we ask how agents do whatever it is they do. Whereas pragmatics is pitched at the W-level, processing theories are at the H-level. This is not to say that pragmatics has no implications for psychology at all, but it is to say that its implications are less direct than is often supposed.

Abstract

A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.

Abstract

Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10-4, HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.