Publications

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

Humans readily engage in idle chat and heated discussions and negotiate tough joint decisions without ever having to think twice about how to keep the conversation grounded in mutual understanding. However, current attempts at identifying and assessing the conversational devices that make this possible are fragmented across disciplines and investigate single devices within single contexts. We present a comprehensive conceptual framework to investigate conversational devices, their relations, and how they adjust to contextual demands. In two corpus studies, we systematically test the role of three conversational devices: backchannels, repair, and linguistic entrainment. Contrasting affiliative and task-oriented conversations within participants, we find that conversational devices adaptively adjust to the increased need for precision in the latter: We show that low-precision devices such as backchannels are more frequent in affiliative conversations, whereas more costly but higher-precision mechanisms, such as specific repairs, are more frequent in task-oriented conversations. Further, task-oriented conversations involve higher complementarity of contributions in terms of the content and perspective: lower semantic entrainment and less frequent (but richer) lexical and syntactic entrainment. Finally, we show that the observed variations in the use of conversational devices are potentially adaptive: pairs of interlocutors that show stronger linguistic complementarity perform better across the two tasks. By combining motivated comparisons of several conversational contexts and theoretically informed computational analyses of empirical data the present work lays the foundations for a comprehensive conceptual framework for understanding the use of conversational devices in dialogue.

Abstract

Establishing and maintaining mutual understanding in everyday conversations is crucial. To do so, people employ a variety of conversational devices, such as backchannels, repair, and linguistic entrainment. Here, we explore whether the use of conversational devices might be influenced by cross-linguistic differences in the speakers’ native language, comparing two matched languages—Danish and Norwegian—differing primarily in their sound structure, with Danish being more opaque, that is, less acoustically distinguished. Across systematically manipulated conversational contexts, we find that processes supporting mutual understanding in conversations vary with external constraints: across different contexts and, crucially, across languages. In accord with our predictions, linguistic entrainment was overall higher in Danish than in Norwegian, while backchannels and repairs presented a more nuanced pattern. These findings are compatible with the hypothesis that native speakers of Danish may compensate for its opaque sound structure by adopting a top-down strategy of building more conversational redundancy through entrainment, which also might reduce the need for repairs. These results suggest that linguistic differences might be met by systematic changes in language processing and use. This paves the way for further cross-linguistic investigations and critical assessment of the interplay between cultural and linguistic factors on the one hand and conversational dynamics on the other.

Abstract

This paper investigates the fractional order behavior of ZnO ceramics at different frequencies. ZnO ceramic was prepared by high energy ball milling technique (HEBM) sintered at 1300℃ to study the frequency response properties. The frequency response properties (impedance and phase
angles) were examined by analyzing through impedance analyzer (100 Hz - 1 MHz). Constant phase angles (84°-88°) were obtained at low temperature ranges (25 ℃-125 ℃). The structural and
morphological composition of the ZnO ceramic was investigated using X-ray diffraction techniques and FESEM. Raman spectrum was studied to understand the different modes of ZnO ceramics. Machine learning (polynomial regression) models were trained on a dataset of 1280
experimental values to accurately predict the relationship between frequency and temperature with respect to impedance and phase values of the ZnO ceramic FOC. The predicted impedance values were found to be in good agreement (R2 ~ 0.98, MSE ~ 0.0711) with the experimental results.
Impedance values were also predicted beyond the experimental frequency range (at 50 Hz and 2 MHz) for different temperatures (25℃ - 500℃) and for low temperatures (10°, 15° and 20℃)
within the frequency range (100Hz - 1MHz).

Abstract

This paper deals with the anaphoric linking of information units in spoken discourse in French, Italian, Dutch and German. We distinguish the information units ‘time’, ‘entity’, and ‘predicate’ and specifically investigate how speakers mark the information structure of their utterances and enhance discourse cohesion in contexts where the predicate contains given information but there is a change in one or more of the other information units. Germanic languages differ from Romance languages in the availability of a set of assertion-related particles (e.g. doch/toch, wel; roughly meaning ‘indeed’) and the option of highlighting the assertion component of a finite verb independently of its lexical content (verum focus). Based on elicited production data from 20 native speakers per language, we show that speakers of Dutch and German relate utterances to one another by focussing on this assertion component, and propose an analysis of the additive scope particles ook/auch (also) along similar lines. Speakers of Romance languages tend to highlight change or maintenance in the other information units. Such differences in the repertoire have consequences for the selection of units that are used for anaphoric linking. We conclude that there is a Germanic and a Romance way of signalling the information flow and enhancing discourse cohesion.

Abstract

Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore’s ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype–phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.

Abstract

Words evolve not as blobs of ink on paper but in face to face interaction. The nature of language as fundamentally interactive and multimodal is shown by the study of ideophones, vivid sensory words that thrive in conversations around the world. The ways in which these Lautbilder enable precise communication about sensory knowledge has for the first time been studied in detail. It turns out that we can paint with language, and that the onomatopoeia we sometimes classify as childish might be a subset of a much richer toolkit for depiction in speech, available to us all.

Abstract

A fundamental fact about human minds is that they are never truly alone: all minds are steeped in situated interaction. That social interaction matters is recognised by any experimentalist who seeks to exclude its influence by studying individuals in isolation. On this view, interaction complicates cognition. Here we explore the more radical stance that interaction co-constitutes cognition: that we benefit from looking beyond single minds towards cognition as a process involving interacting minds. All around the cognitive sciences, there are approaches that put interaction centre stage. Their diverse and pluralistic origins may obscure the fact that collectively, they harbour insights and methods that can respecify foundational assumptions and fuel novel interdisciplinary work. What might the cognitive sciences gain from stronger interactional foundations? This represents, we believe, one of the key questions for the future. Writing as a multidisciplinary collective assembled from across the classic cognitive science hexagon and beyond, we highlight the opportunity for a figure-ground reversal that puts interaction at the heart of cognition. The interactive stance is a way of seeing that deserves to be a key part of the conceptual toolkit of cognitive scientists.

Abstract

Reviews the book, Talking voices: Repetition, dialogue, and imagery in conversational discourse. 2nd edition by Deborah Tannen. This book is the same as the 1989 original except for an added introduction. This introduction situates TV in the context of intertextuality and gives a survey of relevant research since the book first appeared. The strength of the book lies in its insightful analysis of the auditory side of conversation. Yet talking voices have always been embedded in richly contextualized multimodal speech events. As spontaneous and pervasive involvement strategies, both iconic gestures and ideophones should be of central importance to the analysis of conversational discourse. Unfortunately, someone who picks up this book is pretty much left in the dark about the prevalence of these phenomena in everyday face-to-face interaction all over the world.

Abstract

Ideophones are marked words that depict sensory events, for example English hippety-hoppety ‘in a limping and hobbling manner’ or Siwu mukumuku ‘mouth movements of a toothless person eating’. They typically have special sound patterns and distinct grammatical properties. Ideophones are found in many languages of the world, suggesting a common fascination with detailed sensory depiction, but reliable data on their meaning and use is still very scarce. This task involves video-recording spontaneous, informal explanations (“folk definitions”) of individual ideophones by native speakers, in their own language. The approach facilitates collection of rich primary data in a planned context while ensuring a large amount of spontaneity and freedom.

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

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

Many of the world’s languages feature an open lexical class of ideophones, words whose marked forms and sensory meanings invite iconic associations. Ideophones (also known as mimetics or expressives) are well-known from languages in Asia, Africa and the Americas, where they often form a class on the same order of magnitude as other major word classes and take up a considerable functional load as modifying expressions or predicates. Across languages, commonalities in the morphosyntactic behaviour of ideophones can be related to their nature and origin as vocal depictions. At the same time there is ample room for linguistic diversity, raising the need for fine-grained grammatical description of ideophone systems. As vocal depictions, ideophones often form a distinct lexical stratum seemingly conjured out of thin air; but as conventionalized words, they inevitably grow roots in local linguistic systems, showing relations to adverbs, adjectives, verbs and other linguistic resources devoted to modification and predication

Abstract

No class of words has better claims to universality than interjections. At the same time, no category has more variable content than this one, traditionally the catch-all basket for linguistic items that bear a complicated relation to sentential syntax. Interjections are a mirror reflecting methodological and theoretical assumptions more than a coherent linguistic category that affords unitary treatment. This chapter focuses on linguistic items that typically function as free-standing utterances, and on some of the conceptual, methodological, and theoretical questions generated by such items. A key move is to study these items in the setting of conversational sequences, rather than from the “flatland” of sequential syntax. This makes visible how some of the most frequent interjections streamline everyday language use and scaffold complex language. Approaching interjections in terms of their sequential positions and interactional functions has the potential to reveal and explain patterns of universality and diversity in interjections.

Abstract

Artificial neural networks (ANNs) inspired by biology are beginning to be widely used to model behavioural and neural data, an approach we call ‘neuroconnectionism’. ANNs have been not only lauded as the current best models of information processing in the brain but also criticized for failing to account for basic cognitive functions. In this Perspective article, we propose that arguing about the successes and failures of a restricted set of current ANNs is the wrong approach to assess the promise of neuroconnectionism for brain science. Instead, we take inspiration from the philosophy of science, and in particular from Lakatos, who showed that the core of a scientific research programme is often not directly falsifiable but should be assessed by its capacity to generate novel insights. Following this view, we present neuroconnectionism as a general research programme centred around ANNs as a computational language for expressing falsifiable theories about brain computation. We describe the core of the programme, the underlying computational framework and its tools for testing specific neuroscientific hypotheses and deriving novel understanding. Taking a longitudinal view, we review past and present neuroconnectionist projects and their responses to challenges and argue that the research programme is highly progressive, generating new and otherwise unreachable insights into the workings of the brain.

Abstract

Speakers often use spatial metaphors to talk about musical pitch (e.g., a low note, a high soprano). Previous experiments suggest that English speakers also think about pitches as high or low in space, even when theyʼre not using language or musical notation (Casasanto, 2010). Do metaphors in language merely reflect pre-existing associations between space and pitch, or might language also shape these non-linguistic metaphorical mappings? To investigate the role of language in pitch tepresentation, we conducted a pair of non-linguistic spacepitch interference experiments in speakers of two languages that use different spatial metaphors. Dutch speakers usually describe pitches as ʻhighʼ (hoog) and ʻlowʼ (laag). Farsi speakers, however, often describe high-frequency pitches as ʻthinʼ (naazok) and low-frequency pitches as ʻthickʼ (koloft). Do Dutch and Farsi speakers mentally represent pitch differently? To find out, we asked participants to reproduce musical pitches that they heard in the presence of irrelevant spatial information (i.e., lines that varied either in height or in thickness). For the Height Interference experiment, horizontal lines bisected a vertical reference line at one of nine different locations. For the Thickness Interference experiment, a vertical line appeared in the middle of the screen in one of nine thicknesses. In each experiment, the nine different lines were crossed with nine different pitches ranging from C4 to G#4 in semitone increments, to produce 81 distinct trials. If Dutch and Farsi speakers mentally represent pitch the way they talk about it, using different kinds of spatial representations, they should show contrasting patterns of cross-dimensional interference: Dutch speakersʼ pitch estimates should be more strongly affected by irrelevant height information, and Farsi speakersʼ by irrelevant thickness information. As predicted, Dutch speakersʼ pitch estimates were significantly modulated by spatial height but not by thickness. Conversely, Farsi speakersʼ pitch estimates were modulated by spatial thickness but not by height (2x2 ANOVA on normalized slopes of the effect of space on pitch: F(1,71)=17,15 p<.001). To determine whether language plays a causal role in shaping pitch representations, we conducted a training experiment. Native Dutch speakers learned to use Farsi-like metaphors, describing pitch relationships in terms of thickness (e.g., a cello sounds ʻthickerʼ than a flute). After training, Dutch speakers showed a significant effect of Thickness interference in the non-linguistic pitch reproduction task, similar to native Farsi speakers: on average, pitches accompanied by thicker lines were reproduced as lower in pitch (effect of thickness on pitch: r=-.22, p=.002). By conducting psychophysical tasks, we tested the ʻWhorfianʼ question without using words. Yet, results also inform theories of metaphorical language processing. According to psycholinguistic theories (e.g., Bowdle & Gentner, 2005), highly conventional metaphors are processed without any active mapping from the source to the target domain (e.g., from space to pitch). Our data, however, suggest that when people use verbal metaphors they activate a corresponding non-linguistic mapping from either height or thickness to pitch, strengthening this association at the expense of competing associations. As a result, people who use different metaphors in their native languages form correspondingly different representations of musical pitch. Casasanto, D. (2010). Space for Thinking. In Language, Cognition and Space: State of the art and new directions. V. Evans & P. Chilton (Eds.), 453-478, London: Equinox Publishing. Bowdle, B. & Gentner, D. (2005). The career of metaphor. Psychological Review, 112, 193-216.

Abstract

Spatial congruity effects have often been interpreted as evidence for metaphorical thinking, but an alternative markedness-based account challenges this view. In two experiments, we directly compared metaphor and markedness explanations for spatial congruity effects, using musical pitch as a testbed. English speakers who talk about pitch in terms of spatial height were tested in speeded space-pitch compatibility tasks. To determine whether space-pitch congruency effects could be elicited by any marked spatial continuum, participants were asked to classify high- and low-frequency pitches as 'high' and 'low' or as 'front' and 'back' (both pairs of terms constitute cases of marked continuums). We found congruency effects in high/low conditions but not in front/back conditions, indicating that markedness is not sufficient to account for congruity effects (Experiment 1). A second experiment showed that congruency effects were specific to spatial words that cued a vertical schema (tall/short), and that congruity effects were not an artifact of polysemy (e.g., 'high' referring both to space and pitch). Together, these results suggest that congruency effects reveal metaphorical uses of spatial schemas, not markedness effects.

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

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype–phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype–phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.

Abstract

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

Abstract

During face-to-face communication, recipients need to rapidly integrate a plethora of auditory and visual signals. This integration of signals from many different bodily articulators, all offset in time, with the information in the speech stream may either tax the cognitive system, thus slowing down language processing, or may result in multimodal facilitation. Using the classical shadowing paradigm, participants shadowed speech from face-to-face, naturalistic dyadic conversations in an audiovisual context, an audiovisual context without visual speech (e.g., lips), and an audio-only context. Our results provide evidence of a multimodal facilitation effect in human communication: participants were faster in shadowing words when seeing multimodal messages compared with when hearing only audio. Also, the more visual context was present, the fewer shadowing errors were made, and the earlier in time participants shadowed predicted lexical items. We propose that the multimodal facilitation effect may contribute to the ease of fast face-to-face conversational interaction.

Abstract

How do neural oscillations support human audiovisual language and communication? Considering the rhythmic nature of audiovisual language, in which stimuli from different sensory modalities unfold over time, neural oscillations represent an ideal candidate to investigate how audiovisual language is processed in the brain. Modulations of oscillatory phase and power are thought to support audiovisual language and communication in multiple ways. Neural oscillations synchronize by tracking external rhythmic stimuli or by re-setting their phase to presentation of relevant stimuli, resulting in perceptual benefits. In particular, synchronized neural oscillations have been shown to subserve the processing and the integration of auditory speech, visual speech, and hand gestures. Furthermore, synchronized oscillatory modulations have been studied and reported between brains during social interaction, suggesting that their contribution to audiovisual communication goes beyond the processing of single stimuli and applies to natural, face-to-face communication.

There are still some outstanding questions that need to be answered to reach a better understanding of the neural processes supporting audiovisual language and communication. In particular, it is not entirely clear yet how the multitude of signals encountered during audiovisual communication are combined into a coherent percept and how this is affected during real-world dyadic interactions. In order to address these outstanding questions, it is fundamental to consider language as a multimodal phenomenon, involving the processing of multiple stimuli unfolding at different rhythms over time, and to study language in its natural context: social interaction. Other outstanding questions could be addressed by implementing novel techniques (such as rapid invisible frequency tagging, dual-electroencephalography, or multi-brain stimulation) and analysis methods (e.g., using temporal response functions) to better understand the relationship between oscillatory dynamics and efficient audiovisual communication.

Abstract

Learning can occur via trial and error; however, learning from conspecifics is faster and more efficient. Social animals can easily learn from conspecifics, but how do less social species learn? In particular, birds provide astonishing examples of social learning of vocalizations, while vocal learning from conspecifics is much less understood in mammals. We present a hypothesis aimed at solving an apparent paradox: how can harbor seals (Phoca vitulina) learn their song when their whole lives are marked by loose conspecific social contact? Harbor seal pups are raised individually by their mostly silent mothers. Pups' first few weeks of life show developed vocal plasticity; these weeks are followed by relatively silent years until sexually mature individuals start singing. How can this rather solitary life lead to a learned song? Why do pups display vocal plasticity at a few weeks of age, when this is apparently not needed? Our hypothesis addresses these questions and tries to explain how vocal learning fits into the natural history of harbor seals, and potentially other less social mammals. We suggest that harbor seals learn during a sensitive period within puppyhood, where they are exposed to adult males singing. In particular, we hypothesize that, to make this learning possible, the following happens concurrently: (1) mothers give birth right before male singing starts, (2) pups enter a sensitive learning phase around weaning time, which (3) coincides with their foraging expeditions at sea which, (4) in turn, coincide with the peak singing activity of adult males. In other words, harbor seals show vocal learning as pups so they can acquire elements of their future song from adults, and solitary adults can sing because they have acquired these elements as pups. We review the available evidence and suggest that pups learn adult vocalizations because they are born exactly at the right time to eavesdrop on singing adults. We conclude by advancing empirical predictions and testable hypotheses for future work.

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

In recent years, large scale initiatives like CLARIN set out to overcome the notorious heterogeneity of metadata formats in the domain of language resource. The CLARIN Component Metadata Infrastructure established means for flexible resouce descriptions for the domain of language resources. The Data Category Registry ISOcat and the accompanying Relation Registry foster semantic interoperability within the growing heterogeneous collection of metadata records. This paper describes the CMD Infrastructure focusing on the facilities for semantic mapping, and gives also an overview of the current status in the joint component metadata domain.

Abstract

This article explores the role of text and reader characteristics in character engagement experiences. In an online study, participants completed several self-report and behavioral measures of social-cognitive abilities and read two literary narratives in which the presence of linguistic viewpoint markers was varied using a highly controlled manipulation strategy. Afterward, participants reported on their character engagement experiences. A principal component analysis on participants’ responses revealed the multidimensional nature of character engagement, which included both self- and other-oriented emotional responses (e.g., empathy, personal distress) as well as more cognitive responses (e.g., identification, perspective taking). Furthermore, character engagement was found to rely on a wide range of social-cognitive abilities but not on the presence of viewpoint markers. Finally, and most importantly, we did not find convincing evidence for an interplay between social-cognitive abilities and the presence of viewpoint markers. These findings suggest that readers rely on their social-cognitive abilities to engage with the inner worlds of fictional others, more so than on the lexical cues of those inner worlds provided by the text.

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

Pre-lexical representations of speech sounds have been to shown to change dynamically through a mechanism of lexically driven learning. [Norris et al. (2003).] Here we investigated whether this type of learning occurs in native British English (BE) listeners for a word-final stop contrast which is commonly de-voiced in Dutch-accented English. Specifically, this study asked whether the change in pre-lexical representation also encodes information about the position of the critical sound within a word. After exposure to a native Dutch speaker's productions of de-voiced stops in word-final position (but not in any other positions), BE listeners showed evidence of perceptual learning in a subsequent cross-modal priming task, where auditory primes with voiceless final stops (e.g., [si:t], “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 [taun] (“town”), facilitated recognition of visual targets like “down”. Control listeners, who had not heard any stops by the speaker during exposure, showed no learning effects. The results suggest that under these exposure conditions, word position is not encoded in the pre-lexical adjustment to the accented phoneme contras

Abstract

Acquiring a second language (L2) requires newly learned information to be integrated with existing knowledge. It has been proposed that several memory systems work together to enable this process of rapidly encoding new information and then slowly incorporating it with existing knowledge, such that it is consolidated and integrated into the language network without catastrophic interference. This chapter focuses on consolidation of L2 vocabulary. First, the complementary learning systems model is outlined, along with the model’s predictions regarding lexical consolidation. Next, word learning studies in first language (L1) that investigate the factors playing a role in consolidation, and the neural mechanisms underlying this, are reviewed. Using the L1 memory consolidation literature as background, the chapter then presents what is currently known about memory consolidation in L2 word learning. Finally, considering what is already known about L1 but not about L2, future research investigating memory consolidation in L2 neurocognition is proposed.

Abstract

Several theories of predictive processing propose reduced sensory and neural responses to anticipated events. Support comes from magnetoencephalography/electroencephalography (M/EEG) studies, showing reduced auditory N1 and P2 responses to self-generated compared to externally generated events, or when the timing and form of stimuli are more predictable. The current study examined the sensitivity of N1 and P2 responses to statistical speech regularities. We employed a motor-to-auditory paradigm comparing event-related potential (ERP) responses to externally and self-triggered pseudowords. Participants were presented with a cue indicating which button to press (motor-auditory condition) or which pseudoword would be presented (auditory-only condition). Stimuli consisted of the participant's own voice uttering pseudowords that varied in phonotactic probability and syllable stress. We expected to see N1 and P2 suppression for self-triggered stimuli, with greater suppression effects for more predictable features such as high phonotactic probability and first-syllable stress in pseudowords. In a temporal principal component analysis (PCA), we observed an interaction between syllable stress and condition for the N1, where second-syllable stress items elicited a larger N1 than first-syllable stress items, but only for externally generated stimuli. We further observed an effect of syllable stress on the P2, where first-syllable stress items elicited a larger P2. Strikingly, we did not observe motor-induced suppression for self-triggered stimuli for either the N1 or P2 component, likely due to the temporal predictability of the stimulus onset in both conditions. Taking into account previous findings, the current results suggest that sensitivity to syllable stress regularities depends on task demands.

Abstract

Reviews the book, Gesturecraft: The Manu-Facture of Meaning by Jurgen Streeck (see record 2009-03892-000). This book on gesture goes back to well before the recent emergence of a mainstream of interest in the topic. The author of this book presents his vision of the hands' involvement in the making of meaning. The author's stance falls within a second broad category of work, a much more interdisciplinary approach, which focuses on context more richly construed. The approach not only addresses socially and otherwise distributed cognition, but also tackles the less psychologically framed concerns of meaning as a collaborative achievement and its role in the practicalities of human social life. The author's insistence that the right point of departure for gesture work is "human beings in their daily activities" leads to a view of gesture that begins not with language, and not with mind, but with types of social and contextual settings that constitute ecologies for the deployment of the hands in making meaning. The author's categories go beyond a reliance on semiotic properties of hand movements or their relation to accompanying speech, being grounded also in contextual aspects of the local setting, social activity type and communicative goals. Thus, this book is a unique contribution to gesture research.

Abstract

Introduction

A comparison of conversation in twenty-one languages from around the world reveals commonalities and differences in the way that people do open-class other-initiation of repair (Schegloff, Jefferson, and Sacks, 1977; Drew, 1997). We find that speakers of all of the spoken languages in the sample make use of a primary interjection strategy (in English it is Huh?), where the phonetic form of the interjection is strikingly similar across the languages: a monosyllable featuring an open non-back vowel [a, æ, ə, ʌ], often nasalized, usually with rising intonation and sometimes an [h-] onset. We also find that most of the languages have another strategy for open-class other-initiation of repair, namely the use of a question word (usually “what”). Here we find significantly more variation across the languages. The phonetic form of the question word involved is completely different from language to language: e.g., English [wɑt] versus Cha'palaa [ti] versus Duna [aki]. Furthermore, the grammatical structure in which the repair-initiating question word can or must be expressed varies within and across languages. In this chapter we present data on these two strategies – primary interjections like Huh? and question words like What? – with discussion of possible reasons for the similarities and differences across the languages. We explore some implications for the notion of repair as a system, in the context of research on the typology of language use.

The general outline of this chapter is as follows. We first discuss repair as a system across languages and then introduce the focus of the chapter: open-class other-initiation of repair. A discussion of the main findings follows, where we identify two alternative strategies in the data: an interjection strategy (Huh?) and a question word strategy (What?). Formal features and possible motivations are discussed for the interjection strategy and the question word strategy in order. A final section discusses bodily behavior including posture, eyebrow movements and eye gaze, both in spoken languages and in a sign language.

Abstract

Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Etnolinguïstiek, in het bijzonder die van Zuid-Oost Azië, aan de Faculteit der Letteren van de Radboud Universiteit Nijmegen op woensdag 4 november 2009 door prof. dr. N.J. Enfield

Abstract

People of all cultures have some degree of concern with categorizing types of communicative social action. All languages have words with meanings like speak, say, talk, complain, curse, promise, accuse, nod, wink, point and chant. But the exact distinctions they make will differ in both quantity and quality. How is communicative social action categorised across languages and cultures? The goal of this task is to establish a basis for cross-linguistic comparison of native metalanguages for social action.

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

no abstract available

Abstract

This paper surveys the structure of questions and their responses in Lao, a Southwestern Tai language spoken in Laos, Thailand, and Cambodia. Data are from video-recordings of naturally occurring conversation in Vientiane, Laos. An outline of the lexico-grammatical options for formulating questions describes content (‘WH’) questions and polar (‘yes/no’) questions. The content question forms are from a set of indefinite pronouns. The WHAT, WHERE, and WHO categories have higher token frequency than the other categories. Polar questions are mostly formed by the addition of different turn-final markers, with different meanings. ‘Declarative questions’ (i.e., polar questions which are formally identical to statements) are common. An examination of the interactional functions of questions in the data show asymmetries between polar and content questions, with content questions used mostly for requesting information, while polar questions are also widely used for requesting confirmation, among other things. There is discussion of the kinds of responses that are appropriate or preferred given certain types of question. Alongside discussion of numerous examples, the paper provides quantitative data on the frequencies of various patterns in questions and responses. These data form part of a large-scale, ten-language coding study.

Abstract

This chapter contains sections titled: Introduction Lexical Selection in Reference: Introductory Examples of Reference to Times Multiple “Preferences” Future Directions Conclusion

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

Both of these considerations of the evolution of language draw on research from a wide range of fields, although Enfield believes they do not pay sufficient attention to the dynamic context of human social behavior.

Abstract

Based on an analysis of 350 questions and their responses in a corpus of ordinary interactions, this paper gives a descriptive overview of the ways Dutch interactants formulate their utterances to make them recognizable as doing questioning and the options they rely on to respond to these questions. I describe the formal options for formulating questions and responses in Dutch and the range of social actions (e.g. requests for information, requests for confirmation) that are implemented through questions in the corpus. Finally, I focus on answer design and discuss some of the coherence relations between questions, answers, and social actions. Questions that are asked to elicit information are associated with the more prototypical, lexico-morpho-syntactically defined question type such as polar interrogatives and, mainly, content questions. Most polar questions with declarative syntax are not primarily concerned with obtaining information but with doing other kinds of social actions

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

Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Psycholinguïstiek aan de Faculteit der Letteren van de Radboud Universiteit Nijmegen op vrijdag 18 januari 2013

Abstract

Manganese (Mn2+)-enhanced magnetic resonance imaging (MEMRI) offers the possibility to generate longitudinal maps of brain activity in unrestrained and behaving animals. However, Mn2+ is a metabolic toxin and a competitive inhibitor for Ca2+, and therefore, a yet unsolved question in MEMRI studies is whether the concentrations of metal ion used may alter brain physiology. In the present work we have investigated the behavioral, electrophysiological and histopathological consequences of MnCl2 administration at concentrations and dosage protocols regularly used in MEMRI. Three groups of animals were sc injected with saline, 0.1 and 0.5 mmol/kg MnCl2, respectively. In vivo electrophysiological recordings in the hippocampal formation revealed a mild but detectable decrease in both excitatory postsynaptic potentials (EPSP) and population spike (PS) amplitude under the highest MnCl2 dose. The EPSP to PS ratio was preserved at control levels, indicating that neuronal excitability was not affected. Experiments of pair pulse facilitation demonstrated a dose dependent increase in the potentiation of the second pulse, suggesting presynaptic Ca2+ competition as the mechanism for the decreased neuronal response. Tetanization of the perforant path induced a long-term potentiation of synaptic transmission that was comparable in all groups, regardless of treatment. Accordingly, the choice accuracy tested on a hippocampal-dependent learning task was not affected. However, the response latency in the same task was largely increased in the group receiving 0.5 mmol/kg of MnCl2. Immunohistological examination of the hippocampus at the end of the experiments revealed no sign of neuronal toxicity or glial reaction. Although we show that MEMRI at 0.1 mmol/Kg MnCl2 may be safely applied to the study of cognitive networks, a detailed assessment of toxicity is strongly recommended for each particular study and Mn2+ administration protocol.

Abstract

Magnetic resonance imaging (MRI) is widely used in basic and clinical research to map the structural and functional organization of the brain. An important need of MR research is for contrast agents that improve soft-tissue contrast, enable visualization of neuronal tracks, and enhance the capacity of MRI to provide functional information at different temporal scales. Unchelated manganese can be such an agent, and manganese-enhanced MRI (MEMRI) can potentially be an excellent technique for localization of brain activity (for review see Silva et al., 2004). Yet, the toxicity of manganese presents a major limitation for employing MEMRI in behavioral paradigms. We have tested systematically the voluntary wheel running behavior of rats after systemic application of MnCl2 in a dose range of 16–80 mg/kg, which is commonly used in MEMRI studies. The results show a robust dose-dependent decrease in motor performance, which was accompanied by weight loss and decrease in food intake. The adverse effects lasted for up to 7 post-injection days. The lowest dose of MnCl2 (16 mg/kg) produced minimal adverse effects, but was not sufficient for functional mapping. We have therefore evaluated an alternative method of manganese delivery via osmotic pumps, which provide a continuous and slow release of manganese. In contrast to a single systemic injection, the pump method did not produce any adverse locomotor effects, while achieving a cumulative concentration of manganese (80 mg/kg) sufficient for functional mapping. Thus, MEMRI with such an optimized manganese delivery that avoids toxic effects can be safely applied for longitudinal studies in behaving animals.

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

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

Two-year-old children’s reasoning about the relation between their own and others’ preferences was investigated across two studies. In Experiment 1, children first observed 2 actors display their individual preferences for various toys. Children were then asked to make inferences about new, visually inaccessible toys and books that were described as being the favorite of each actor, unfamiliar to each actor, or disliked by each actor. Children tended to select the favorite toys and books from the actor who shared their own preference but chose randomly when the new items were unfamiliar to or disliked by the two actors. Experiment 2 extended these findings, showing that children do not generalize a shared preference across unrelated categories of items. Taken together, the results suggest that young children readily recognize when another person holds a preference similar to their own and use that knowledge appropriately to achieve desired outcomes.

Abstract

Two studies examined the influence of similarity on 3-year-old children’s initial liking of their peers. Children were presented with pairs of childlike puppets who were either similar or dissimilar to them on a specified dimension and then were asked to choose one of the puppets to play with as a measure of liking. Children selected the puppet whose food preferences or physical appearance matched their own. Unpacking the physical appearance finding revealed that the stable similarity of hair color may influence liking more strongly than the transient similarity of shirt color. A second study showed that children also prefer to play with a peer who shares their toy preferences, yet importantly, show no bias toward a peer who is similar on an arbitrary dimension. The findings provide insight into the earliest development of peer relations in young children.

Abstract

Aging, often considered a result of random cellular damage, can be accurately estimated using DNA methylation profiles, the foundation of pan-tissue epigenetic clocks. Here, we demonstrate the development of universal pan-mammalian clocks, using 11,754 methylation arrays from our Mammalian Methylation Consortium, which encompass 59 tissue types across 185 mammalian species. These predictive models estimate mammalian tissue age with high accuracy (r > 0.96). Age deviations correlate with human mortality risk, mouse somatotropic axis mutations and caloric restriction. We identified specific cytosines with methylation levels that change with age across numerous species. These sites, highly enriched in polycomb repressive complex 2-binding locations, are near genes implicated in mammalian development, cancer, obesity and longevity. Our findings offer new evidence suggesting that aging is evolutionarily conserved and intertwined with developmental processes across all mammals.

Abstract

In this study we describe a distinctive pigment ring that appears in spider eyes after ecdysis and successively decreases in size in the days thereafter. Although pigment stops in spider eyes are well known, size variability is, to our knowledge, reported here for the first time. Representative species from three families (Ctenidae, Sparassidae and Lycosidae) are investigated and, for one of these species (Cupiennius salei, Ctenidae), the progressive increase in pupil diameter is monitored. In this species the pupil occupies only a fourth of the total projected lens surface after ecdysis and reaches its final size after approximately ten days. MicroCT images suggest that the decrease of the pigment ring is linked to the growth of the corneal lens after ecdysis. The pigment rings might improve vision in the immature eye by shielding light rays that would otherwise enter the eye via peripheral regions of the cornea, beside the growing crystalline lens.

Abstract

The study presented here focuses on two pragmatic gestures:
the hand flip (Ferré, 2011), a gesture of the Palm Up Open
Hand/PUOH family (Müller, 2004) and the closed hand which
can be considered as the opposite kind of movement to the open-
ing of the hands present in the PUOH gesture. Whereas one of
the functions of the hand flip has been described as presenting
a new point in speech (Cienki, 2021), the closed hand gesture
has not yet been described in the literature to the best of our
knowledge. It can however be conceived of as having the oppo-
site function of announcing the end of a point in discourse. The
object of the present study is therefore to determine, with the
study of prosodic features, if the two gestures are found in the
same type of speech units and what their respective scope is.
Drawing from a corpus of three TED Talks in French the
prosodic characteristics of the speech that accompanies the two
gestures will be examined. The hypothesis developed in the
present paper is that their scope should be reflected in the
prosody of accompanying speech, especially pitch key, tone,
and relative pitch range. The prediction is that hand flips and
closing hand gestures are expected to be located at the periph-
ery of Intonation Phrases (IPs), Inter-Pausal Units (IPUs) or
more conversational Turn Constructional Units (TCUs), and are
likely to be co-occurrent with pauses in speech. But because of
the natural slope of intonation in speech, the speech that accom-
pany early gestures in Intonation Phrases should reveal different
features from the speech at the end of intonational units. Tones
should be different as well, considering the prosodic structure
of spoken French.

Abstract

Our understanding of dual-process models of cognition may benefit from a consideration of language processing, as language comprehension involves fast and slow processes analogous to those used for reasoning. More specifically, De Neys's criticisms of the exclusivity assumption and the fast-to-slow switch mechanism are consistent with findings from the literature on the construction and revision of linguistic interpretations.

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

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 problem of auxiliary fronting in complex polar questions occupies a prominent position within the nature versus nurture controversy in language acquisition. We employ a model of statistical learning which uses sequential and semantic information to produce utterances from a bag of words. This linear learner is capable of generating grammatical questions without exposure to these structures in its training environment. We also demonstrate that the model performs superior to n-gram learners on this task. Implications for nativist theories of language acquisition are discussed.

Abstract

Electrophysiological studies consistently find N400 effects of semantic incongruity in nonnative (L2) language comprehension. These N400 effects are often delayed compared with native (L1) comprehension, suggesting that semantic integration in one's second language occurs later than in one's first language. In this study, we investigated whether such a delay could be attributed to (1) intralingual lexical competition and/or (2) interlingual lexical competition. We recorded EEG from Dutch–English bilinguals who listened to English (L2) sentences in which the sentence-final word was (a) semantically fitting and (b) semantically incongruent or semantically incongruent but initially congruent due to sharing initial phonemes with (c) the most probable sentence completion within the L2 or (d) the L1 translation equivalent of the most probable sentence completion. We found an N400 effect in each of the semantically incongruent conditions. This N400 effect was significantly delayed to L2 words but not to L1 translation equivalents that were initially congruent with the sentence context. Taken together, these findings firstly demonstrate that semantic integration in nonnative listening can start based on word initial phonemes (i.e., before a single lexical candidate could have been selected based on the input) and secondly suggest that spuriously elicited L1 lexical candidates are not available for semantic integration in L2 speech comprehension.

Abstract

Studies of rhythm processing and of reward have progressed separately, with little connection between the two. However, consistent links between rhythm and reward are beginning to surface, with research suggesting that synchronization to rhythm is rewarding, and that this rewarding element may in turn also boost this synchronization. The current mini review shows that the combined study of rhythm and reward can be beneficial to better understand their independent and combined roles across two central aspects of cognition: 1) learning and memory, and 2) social connection and interpersonal synchronization; which have so far been studied largely independently. From this basis, it is discussed how connections between rhythm and reward can be applied to learning and memory and social connection across different populations, taking into account individual differences, clinical populations, human development, and animal research. Future research will need to consider the rewarding nature of rhythm, and that rhythm can in turn boost reward, potentially enhancing other cognitive and social processes.

Abstract

This dissertation is an ethnographic study of race and other forms of social categorization as approached through the discourse of the indigenous Chachi people of northwestern lowland Ecuador and their Afro-descendant neighbors. It combines the ethnographic methods of social anthropology with the methods of descriptive linguistics, letting social questions about racial formation guide linguistic inquiry. It provides new information about the largely unstudied indigenous South American language Cha’palaa, and connects that information about linguistic form to problems of the study of race and ethnicity in Latin America. Individual descriptive chapters address how the Cha’palaa number system is based on collectivity rather than plurality according to an animacy hierarchy that codes only human and human-like social collectivities, how a nominal set of ethnonyms linked to Chachi oral history become the recipients of collective marking as human collectivities, how those collectivities are co-referentially linked to speech participants through the deployment of the pronominal system, and how the multi-modal resource of gesture adds to these rich resources supplied by the spoken language for the expression of social realities like race. The final chapters address Chachi and Afrodescendant discourses in dialogue with each other and examine naturally occurring speech data to show how the linguistic forms described in previous chapters are used in social interaction. The central argument advances a position that takes the socially constructed status of race seriously and considers that for such constructions to exist as more abstract macro-categories they must be constituted by instances of social interaction, where elements of the social order are observable at the micro-level. In this way localized articulations of social categories become vehicles for the broader circulation of discourses structured by a history of racialized social inequality, revealing the extreme depth of racialization in human social conditioning. This dissertation represents a contribution to the field of linguistic anthropology as well as to descriptive linguistics of South American languages and to critical approaches to race and ethnicity in Latin America.

Abstract

The ethnographic literature has sometimes described parts of the northwest Amazon as areas 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 upper Rio Negro area of 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’, in which culturally-important meanings are kept similar across different linguistic systems. 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

This article briefly reviews some recent work on artificial language learning in children and adults. The final part of the article is devoted to a theoretical formulation of the language learning problem from a mechanistic neurobiological viewpoint and we show that it is logically possible to combine the notion of innate language constraints with, for example, the notion of domain general learning mechanisms. A growing body of empirical evidence suggests that the mechanisms involved in artificial language learning and in structured sequence processing are shared with those of natural language acquisition and natural language processing. Finally, by theoretically analyzing a formal learning model, we highlight Fodor’s insight that it is logically possible to combine innate, domain-specific constraints with domain-general learning mechanisms.

Abstract

Accurate reconstruction of prehistoric social organization is important if we are to put together satisfactory multidisciplinary scenarios about, for example, the dispersal of human groups. Such considerations apply in the case of Indo-European and Austronesian, two large-scale language families that are thought to represent Neolithic expansions. Ancestral kinship patterns have mostly been inferred through reconstruction of kin terminologies in ancestral proto-languages using the linguistic comparative method, and through geographical or distributional arguments based on the comparative patterns of kin terms and ethnographic kinship ‘facts’. While these approaches are detailed and valuable, the processes through which conclusions have been drawn from the data fail to provide explicit criteria for systematic testing of alternative hypotheses. Here, we use language trees derived using phylogenetic tree-building techniques on Indo-European and Austronesian vocabulary data. With these trees, ethnographic data and Bayesian phylogenetic comparative methods, we statistically reconstruct past marital residence and infer rates of cultural change between different residence forms, showing Proto-Indo-European to be virilocal and Proto-Malayo-Polynesian uxorilocal. The instability of uxorilocality and the rare loss of virilocality once gained emerge as common features of both families

Abstract

An MEG experiment was carried out in order to compare the processing of lexical-tonal and intonational contrasts, based on the tonal dialect of Roermond (the Netherlands). A set of words with identical phoneme sequences but distinct pitch contours, which represented different lexical meanings or discourse meanings (statement vs. question), were presented to native speakers as well as to a control group of speakers of Standard Dutch, a non-tone language. The stimuli were arranged in a mismatch paradigm, under three experimental conditions: in the first condition (lexical), the pitch contour differences between standard and deviant stimuli reflected differences between lexical meanings; in the second condition (intonational), the stimuli differed in their discourse meaning; in the third condition (combined), they differed both in their lexical and discourse meaning. In all three conditions, native as well as non-native responses showed a clear MMNm (magnetic mismatch negativity) in a time window from 150 to 250 ms after the divergence point of standard and deviant pitch contours. In the lexical condition, a stronger response was found over the left temporal cortex of native as well as non-native speakers. In the intonational condition, the same activation pattern was observed in the control group, but not in the group of native speakers, who showed a right-hemisphere dominance instead. Finally, in the combined (lexical and intonational) condition, brain reactions appeared to represent the summation of the patterns found in the other two conditions. In sum, the lateralization of pitch processing is condition-dependent in the native group only, which suggests that language experience determines how processes should be distributed over both temporal cortices, according to the functions available in the grammar.

Abstract

Population-based linkage analysis is a new method for analysing genomewide single nucleotide polymorphism (SNP) genotype data in case-control samples, which does not assume a common disease, common variant model. The genome is scanned for extended segments that show increased identity-by-descent sharing within case-case pairs, relative to case-control or control-control pairs. The method is robust to allelic heterogeneity and is suited to mapping genes which contain multiple, rare susceptibility variants of relatively high penetrance. We analysed genomewide SNP datasets for two schizophrenia case-control cohorts, collected in Aberdeen (461 cases, 459 controls) and Munich (429 cases, 428 controls). Population-based linkage testing must be performed within homogeneous samples and it was therefore necessary to analyse the cohorts separately. Each cohort was first subjected to several procedures to improve genetic homogeneity, including identity-by-state outlier detection and multidimensional scaling analysis. When testing only cases who reported a positive family history of major psychiatric disease, consistent with a model of strongly penetrant susceptibility alleles, we saw a distinct peak on chromosome 19q in both cohorts that appeared in meta-analysis (P=0.000016) to surpass the traditional level for genomewide significance for complex trait linkage. The linkage signal was also present in a third case-control sample for familial bipolar disorder, such that meta-analysing all three datasets together yielded a linkage P=0.0000026. A model of rare but highly penetrant disease alleles may be more applicable to some instances of major psychiatric diseases than the common disease common variant model, and we therefore suggest that other genome scan datasets are analysed with this new, complementary method.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders with a worldwide prevalence around 4–5% in children and 1–4% in adults. Although ADHD is highly heritable and familial risk may contribute most strongly to the persistent form of the disorder, there are few studies on the genetics of ADHD in adults. In this paper, we present the first results of the International Multicentre Persistent ADHD Genetics CollaboraTion (IMpACT) that has been set up with the goal of performing research into the genetics of persistent ADHD. In this study, we carried out a combined analysis as well as a meta-analysis of the association of the SLC6A3/DAT1 gene with persistent ADHD in 1440 patients and 1769 controls from IMpACT and an earlier report. DAT1, encoding the dopamine transporter, is one of the most frequently studied genes in ADHD, though results have been inconsistent. A variable number tandem repeat polymorphism (VNTR) in the 3′-untranslated region (UTR) of the gene and, more recently, a haplotype of this VNTR with another VNTR in intron 8 have been the target of most studies. Although the 10/10 genotype of the 3′-UTR VNTR and the 10-6 haplotype of the two VNTRs are thought to be risk factors for ADHD in children, we found the 9/9 genotype and the 9-6 haplotype associated with persistent ADHD. In conclusion, a differential association of DAT1 with ADHD in children and in adults might help explain the inconsistencies observed in earlier association studies. However, the data might also imply that DAT1 has a modulatory rather than causative role in ADHD.

Abstract

To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.

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.