Publications

Abstract

The performance of automatic speech recognition systems is usually assessed in terms of error rate. Human speech recognition produces few errors, but relative difficulty of processing can be assessed via response time techniques. We report the construction of a measure analogous to response time in a machine recognition system. This measure may be compared directly with human response times. We conducted a trial comparison of this type at the phoneme level, including both tense and lax vowels and a variety of consonant classes. The results suggested similarities between human and machine processing in the case of consonants, but differences in the case of vowels.

Abstract

Segmentation of continuous speech into its component words is a nontrivial task for listeners. Previous work has suggested that listeners develop heuristic segmentation procedures based on experience with the structure of their language; for English, the heuristic is that strong syllables (containing full vowels) are most likely to be the initial syllables of lexical words, whereas weak syllables (containing central, or reduced, vowels) are nonword-initial, or, if word-initial, are grammatical words. This hypothesis is here tested against natural and laboratory-induced missegmentations of continuous speech. Precisely the expected pattern is found: listeners erroneously insert boundaries before strong syllables but delete them before weak syllables; boundaries inserted before strong syllables produce lexical words, while boundaries inserted before weak syllables produce grammatical words.

Abstract

Monolingual French speakers employ a syllable-based procedure in speech segmentation; monolingual English speakers use a stress-based segmentation procedure and do not use the syllable-based procedure. In the present study French-English bilinguals participated in segmentation experiments with English and French materials. Their results as a group did not simply mimic the performance of English monolinguals with English language materials and of French monolinguals with French language materials. Instead, the bilinguals formed two groups, defined by forced choice of a dominant language. Only the French-dominant group showed syllabic segmentation and only with French language materials. The English-dominant group showed no syllabic segmentation in either language. However, the English-dominant group showed stress-based segmentation with English language materials; the French-dominant group did not. We argue that rhythmically based segmentation procedures are mutually exclusive, as a consequence of which speech segmentation by bilinguals is, in one respect at least, functionally monolingual.

Abstract

In languages with variable stress placement, lexical stress patterns can convey information about word identity. The experiments reported here address the question of whether lexical stress information can be used in word recognition. The results allow the following conclusions: 1. Prior information as to the number of syllables and lexical stress patterns of words and nonwords does not facilitate lexical decision responses (Experiment 1). 2. The strong correspondences between grammatical category membership and stress pattern in bisyllabic English words (strong-weak stress being associated primarily with nouns, weak-strong with verbs) are not exploited in the recognition of isolated words (Experiment 2). 3. When a change in lexical stress also involves a change in vowel quality, i.e., a segmental as well as a suprasegmental alteration, effects on word recognition are greater when no segmental correlates of suprasegmental changes are involved (Experiments 2 and 3). 4. Despite the above finding, when all other factors are controlled, lexical stress information per se can indeed be shown to play a part in word-recognition process (Experiment 3).

Abstract

Vocabularies contain hundreds of thousands of words built from only a handful of phonemes, so that inevitably longer words tend to contain shorter ones. In many languages (but not all) such embedded words occur more often word-initially than word-finally, and this asymmetry, if present, has farreaching consequences for spoken-word recognition. Prior research had ascribed the asymmetry to suffixing or to effects of stress (in particular, final syllables containing the vowel schwa). Analyses of the standard French vocabulary here reveal an effect of suffixing, as predicted by this account, and further analyses of an artificial variety of French reveal that extensive final schwa has an independent and additive effect in promoting the embedding asymmetry.

Abstract

The role of accent in reference resolution was investigated by monitoring eye fixations to lexical competitors (e.g., candy and candle ) as participants followed prerecorded instructions to move objects above or below fixed geometric shapes using a computer mouse. In Experiment 1, the first utterance instructed participants to move one object above or below a shape (e.g., “Put the candle/candy below the triangle”) and the second utterance contained an accented or deaccented definite noun phrase which referred to the same object or introduced a new entity (e.g., “Now put the CANDLE above the square” vs. “Now put the candle ABOVE THE SQUARE”). Fixations to the competitor (e.g., candy ) demonstrated a bias to interpret deaccented nouns as anaphoric and accented nouns as nonanaphoric. Experiment 2 used only accented nouns in the second instruction, varying whether the referent of this second instruction was the Theme of the first instruction (e.g., “Put the candle below the triangle”) or the Goal of the first instruction (e.g., “Put the necklace below the candle”). Participants preferred to interpret accented noun phrases as referring to a previously mentioned nonfocused entity (the Goal) rather than as introducing a new unmentioned entity.

Abstract

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

Abstract

In the present article we provide evidence for the occurrence of transfer of conceptualization patterns in narratives of two German-Turkish bilingual groups. All bilingual participants grew up in Germany, but only one group is still resident in Germany (n = 49). The other, the returnees, moved back to Turkey after having lived in Germany for thirteen years (n = 35). The study is based on the theoretical framework for conceptual transfer outlined in Jarvis and Pavlenko (2008) and on the typology of satellite-framed and verb-framed languages developed by Talmy (1985, 1991, 2000a, b) and Slobin (1987, 1996, 2003, 2004, 2005, 2006). In the present study we provide evidence for the hypothesis that language structure affects the organization of information structure at the level of the Conceptualizer, and show that bilingual speakers’ conceptualization of motion events is influenced by the dominant linguistic environment in both languages (German for the group in Germany and Turkish for the returnees). The returnees follow the Turkish blueprints for the conceptualization of motion, in both Turkish and German event construals, whereas the German-resident bilinguals follow the German blueprints, when speaking German as well as Turkish. We argue that most of the patterns found are the result of transfer of conceptualization patterns from the dominant language of the environment.

Abstract

Some major classes of RNAs (such as mRNA, rRNA, tRNA and RNase P) are ubiquitous in all living systems so are inferred to have arisen early during the origin of life. However, the situation is not so clear for the system of RNA regulatory networks that continue to be uncovered, especially in eukaryotes. It is increasingly being recognised that networks of small RNAs are important for regulation in all cells, but it is not certain whether the origin of these networks are as old as rRNAs and tRNA. Another group of ncRNAs, including snoRNAs, occurs mainly in archaea and eukaryotes and their ultimate origin is less certain, although perhaps the simplest hypothesis is that they were present in earlier stages of life and were lost from bacteria. Some RNA networks may trace back to an early stage when there was just RNA and proteins, the RNP‑world; before DNA.

Abstract

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

Abstract

This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.

Abstract

Many children with Specific Language Impairment (SLI) show impairments in discriminating auditorily presented stimuli. The present study investigates whether these discrimination problems are speech specific or of a general auditory nature. This was studied by using a linguistic and nonlinguistic contrast that were matched for acoustic complexity in an active behavioral task and a passive ERP paradigm, known to elicit the mismatch negativity (MMN). In addition, attention skills and a variety of language skills were measured. Participants were 25 five-year-old Dutch children with SLI having receptive as well as productive language problems and 25 control children with typical speechand language development. At the behavioral level, the SLI group was impaired in discriminating the linguistic contrast as compared to the control group, while both groups were unable to distinguish the non-linguistic contrast. Moreover, the SLI group tended to have impaired attention skills which correlated with performance on most of the language tests. At the neural level, the SLI group, in contrast to the control group, did not show an MMN in response to either the linguistic or nonlinguistic contrast. The MMN data are consistent with an account that relates the symptoms in children with SLI to non-speech processing difficulties.

Abstract

Cognitive control involves not only the ability to manage competing task demands, but also the ability to adapt task performance during learning. This study investigated how violation-, response-, and feedback-related electrophysiological (EEG) activity changes over time during language learning. Twenty-two Dutch learners of German classified short prepositional phrases presented serially as text. The phrases were initially presented without feedback during a pre-test phase, and then with feedback in a training phase on two separate days spaced 1 week apart. The stimuli included grammatically correct phrases, as well as grammatical violations of gender and declension. Without feedback, participants' classification was near chance and did not improve over trials. During training with feedback, behavioral classification improved and violation responses appeared to both types of violation in the form of a P600. Feedback-related negative and positive components were also present from the first day of training. The results show changes in the electrophysiological responses in concert with improving behavioral discrimination, suggesting that the activity is related to grammar learning.

Abstract

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

Abstract

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

Abstract

This chapter argues that an evolutionary cultural approach to language not only has already proven fruitful, but it probably holds the key to understand many puzzling aspects of language, its change and origins. The chapter begins by highlighting several still common misconceptions about language that might seem to call into question a cultural evolutionary approach. It explores the antiquity of language and sketches a general evolutionary approach discussing the aspects of function, fi tness, replication, and selection, as well the relevant units of linguistic evolution. In this context, the chapter looks at some fundamental aspects of linguistic diversity such as the nature of the design space, the mechanisms generating it, and the shape and fabric of language. Given that biology is another evolutionary system, its complex coevolution with language needs to be understood in order to have a proper theory of language. Throughout the chapter, various challenges are identifi ed and discussed, sketching promising directions for future research. The chapter ends by listing the necessary data, methods, and theoretical developments required for a grounded evolutionary approach to language.

Abstract

It is generally accepted that the relationship between human genes
and language is very complex and multifaceted. This has its roots in the
“regular” complexity governing the interplay among genes and between genes
and environment for most phenotypes, but with the added layer of supraontogenetic
and supra-individual processes defining culture. At the coarsest
level, focusing on the species, it is clear that human-specific—but not necessarily
faculty-specific—genetic factors subtend our capacity for language and a
currently very productive research program is aiming at uncovering them. At the
other end of the spectrum, it is uncontroversial that individual-level variations in
different aspects related to speech and language have an important genetic
component and their discovery and detailed characterization have already started
to revolutionize the way we think about human nature. However, at the
intermediate, glossogenetic/population level, the relationship becomes controversial,
partly due to deeply ingrained beliefs about language acquisition and
universality and partly because of confusions with a different type of genelanguages
correlation due to shared history. Nevertheless, conceptual, mathematical
and computational models—and, recently, experimental evidence from
artificial languages and songbirds—have repeatedly shown that genetic biases
affecting the acquisition or processing of aspects of language and speech can be
amplified by population-level intergenerational cultural processes and made
manifest either as fixed “universal” properties of language or as structured
linguistic diversity. Here, I review several such models as well as the recently
proposed case of a causal relationship between the distribution of tone languages
and two genes related to brain growth and development, ASPM and Microcephalin,
and I discuss the relevance of such genetic biasing for language
evolution, change, and diversity.

Abstract

Language is a hallmark of our species and understanding linguistic diversity is an area of major interest. Genetic factors influencing the cultural transmission of language provide a powerful and elegant explanation for aspects of the present day linguistic diversity and a window into the emergence and evolution of language. In particular, it has recently been proposed that linguistic tone—the usage of voice pitch to convey lexical and grammatical meaning—is biased by two genes involved in brain growth and development, ASPM and Microcephalin. This hypothesis predicts that tone is a stable characteristic of language because of its ‘genetic anchoring’. The present paper tests this prediction using a Bayesian phylogenetic framework applied to a large set of linguistic features and language families, using multiple software implementations, data codings, stability estimations, linguistic classifications and outgroup choices. The results of these different methods and datasets show a large agreement, suggesting that this approach produces reliable estimates of the stability of linguistic data. Moreover, linguistic tone is found to be stable across methods and datasets, providing suggestive support for the hypothesis of genetic influences on its distribution.

Abstract

The complex inter-relationships between genetics and linguistics encompass all four scales highlighted by the contributions to this book and, together with cultural transmission, the genetics of language holds the promise to offer a unitary understanding of this fascinating phenomenon. There are inter-individual differences in genetic makeup which contribute to the obvious fact that we are not identical in the way we understand and use language and, by studying them, we will be able to both better treat and enhance ourselves. There are correlations between the genetic configuration of human groups and their languages, reflecting the historical processes shaping them, and there also seem to exist genes which can influence some characteristics of language, biasing it towards or against certain states by altering the way language is transmitted across generations. Besides the joys of pure knowledge, the understanding of these three aspects of genetics relevant to language will potentially trigger advances in medicine, linguistics, psychology or the understanding of our own past and, last but not least, a profound change in the way we regard one of the emblems of being human: our capacity for language.

Abstract

This article surveys what is currently known about the complex interplay between genetics and the language sciences. It focuses not only on the genetic architecture of language and speech, but also on their interactions on the cultural and evolutionary timescales. Given the complexity of these issues and their current state of flux and high dynamism, this article surveys the main findings and topics of interest while also briefly introducing the main relevant methods, thus allowing the interested reader to fully appreciate and understand them in their proper context. Of course, not all the relevant publications and resources are mentioned, but this article aims to select the most relevant, promising, or accessible for nonspecialists.

Abstract

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

Abstract

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

Abstract

European cooperative effort seeks best practices architecture and procedures for international sites

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 recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.

Abstract

* Deriziotis, P., André, R., and Smith. D.M. contributed equally to this work * - Prion diseases are associated with the conversion of cellular prion protein (PrP(C)) to toxic β-sheet isoforms (PrP(Sc)), which are reported to inhibit the ubiquitin-proteasome system (UPS). Accordingly, UPS substrates accumulate in prion-infected mouse brains, suggesting impairment of the 26S proteasome. A direct interaction between its 20S core particle and PrP isoforms was demonstrated by immunoprecipitation. β-PrP aggregates associated with the 20S particle, but did not impede binding of the PA26 complex, suggesting that the aggregates do not bind to its ends. Aggregated β-PrP reduced the 20S proteasome's basal peptidase activity, and the enhanced activity induced by C-terminal peptides from the 19S ATPases or by the 19S regulator itself, including when stimulated by polyubiquitin conjugates. However, the 20S proteasome was not inhibited when the gate in the α-ring was open due to a truncation mutation or by association with PA26/PA28. These PrP aggregates inhibit by stabilising the closed conformation of the substrate entry channel. A similar inhibition of substrate entry into the proteasome may occur in other neurodegenerative diseases where misfolded β-sheet-rich proteins accumulate.

Abstract

Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

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

Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes

Abstract

FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells

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

The article compares the integration of topic-related additive words at different stages of untutored L2 acquisition. Data stem from an ‘‘additive-elicitation task’’ that was designed in order to capture topic-related additive words in a context that is at the same time controlled for the underlying information structure and nondeviant from other kinds of narrative discourse. We relate the distinction between stressed and nonstressed forms of the German scope particles and adverbials auch ‘also’, noch ‘another’, wieder ‘again’, and immer noch ‘still’ to a uniform, information-structure-based principle: the stressed variants have scope over the topic information of the relevant utterances. It is then the common function of these additive words to express the additive link between the topic of the present utterance and some previous topic for which the same state of affairs is claimed to hold. This phenomenon has often been referred to as ‘‘contrastive topic,’’ but contrary to what this term suggests, these topic elements are by no means deviant from the default in coherent discourse. In the underlying information structure, the validity of some given state of affairs for the present topic must be under discussion. Topic-related additive words then express that the state of affairs indeed applies to this topic, their function therefore coming close to the function of assertion marking. While this functional correspondence goes along with the formal organization of the basic stages of untutored second-language acquisition, its expression brings linguistic constraints into conflict when the acquisition of finiteness pushes learners to reorganize their utterances according to target-language syntax.

Abstract

Als je wereldwijd gesprekken beluistert, merk je dat de menselijke dialoog universele regels volgt. Die sturen en verrijken onze sociale interactie.

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

The Mawu people of eastern Ghana make common use of ideophones: marked words that depict sensory imagery. Ideophones have been described as “poetry in ordinary language,” yet the shadow of Lévy-Bruhl, who assigned such words to the realm of primitivity, has loomed large over linguistics and literary theory alike. The poet Ezra Pound is a case in point: while his fascination with Chinese characters spawned the ideogrammic method, the mimicry and gestures of the “primitive languages in Africa” were never more than a mere curiosity to him. This paper imagines Pound transposed into the linguaculture of the Mawu. What would have struck him about their ways of ‘charging language’ with imagery? I juxtapose Pound’s views of the poetic image with an analysis of how different layers of iconicity in ideophones combine to depict sensory imagery. This exercise illuminates aspects of what one might call ‘the ideophonic

Abstract

In conversation, people have to deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them

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

This article explores language, culture, and the perceptual world as reflected in a particular linguistic device: ideophones, marked words that depict sensory imagery. Data from a range of elicitation tasks shows that ideophones are a key resource in talking about sensory perception in Siwu. Their use in everyday conversations underlines their communicative versatility while at the same time showing that people delight in their expressiveness. In ideophones, we have an expressive resource that combines sheer playfulness with extraordinary precision

Abstract

Ideophones are found in many of the world’s languages. Though they are a major word class on a par with nouns and verbs, their origins are ill-understood, and the question of ideophone creation has been a source of controversy. This paper studies ideophone creation in naturally occurring speech. New, unconventionalised ideophones are identified using native speaker judgements, and are studied in context to understand the rules and regularities underlying their production and interpretation. People produce and interpret new ideophones with the help of the semiotic infrastructure that underlies the use of existing ideophones: foregrounding frames certain stretches of speech as depictive enactments of sensory imagery, and various types of iconicity link forms and meanings. As with any creative use of linguistic resources, context and common ground also play an important role in supporting rapid ‘good enough’ interpretations of new material. The making of new ideophones is a special case of a more general phenomenon of creative depiction: the art of presenting verbal material in such a way that the interlocutor recognises and interprets it as a depiction.

Abstract

Recent developments in the science of language signal the emergence of a new paradigm for language study: a social approach to the fundamental questions of what language is like, how much languages really have in common, and why only our species has it. The key to these developments is a new appreciation of the need to study everyday spoken language, with all its complications and ‘imperfections’, in a systematic way. The work reviewed in this article —on turn-taking, timing, and other-initiated repair in languages around the world— has important implications for our understanding of human sociality and sheds new light on the social shape of language. For the first time in the history of linguistics, we are no longer tied to what can be written down or thought up. Rather, we look at language as a biologist would: as it occurs in nature.

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

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

People often talk about musical pitch using spatial metaphors. In English, for instance, pitches can be “high” or “low” (i.e., height-pitch association), whereas in other languages, pitches are described as “thin” or “thick” (i.e., thickness-pitch association). According to results from psychophysical studies, metaphors in language can shape people’s nonlinguistic space-pitch representations. But does language establish mappings between space and pitch in the first place, or does it only modify preexisting associations? To find out, we tested 4-month-old Dutch infants’ sensitivity to height-pitch and thickness-pitch mappings using a preferential-looking paradigm. The infants looked significantly longer at cross-modally congruent stimuli for both space-pitch mappings, which indicates that infants are sensitive to these associations before language acquisition. The early presence of space-pitch mappings means that these associations do not originate from language. Instead, language builds on preexisting mappings, changing them gradually via competitive associative learning. Space-pitch mappings that are language-specific in adults develop from mappings that may be universal in infants.

Abstract

Numerous experiments show that space and musical pitch are
closely linked in people's minds. However, the exact nature of
space-pitch associations and their neuronal underpinnings are
not well understood. In an fMRI experiment we investigated
different types of spatial representations that may underlie
musical pitch. Participants judged stimuli that varied in
spatial height in both the visual and tactile modalities, as well
as auditory stimuli that varied in pitch height. In order to
distinguish between unimodal and multimodal spatial bases of
musical pitch, we examined whether pitch activations were
present in modality-specific (visual or tactile) versus
multimodal (visual and tactile) regions active during spatial
height processing. Judgments of musical pitch were found to
activate unimodal visual areas, suggesting that space-pitch
associations may involve modality-specific spatial
representations, supporting a key assumption of embodied
theories of metaphorical mental representation.

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

We previously reported an association with a putative functional variant in the ADAMTSL3 gene, just below genome-wide significance in a genome-wide association study of schizophrenia. As variants impacting the function of ADAMTSL3 (a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like-3) could illuminate a novel disease mechanism and a potentially specific target, we have used complementary approaches to further evaluate the association. We imputed genotypes and performed high density association analysis using data from the HapMap and 1000 genomes projects. To review all variants that could potentially cause the association, and to identify additional possible pathogenic rare variants, we sequenced ADAMTSL3 in 92 schizophrenics. A total of 71 ADAMTSL3 variants were identified by sequencing, many were also seen in the 1000 genomes data, but 26 were novel. None of the variants identified by re-sequencing was in strong linkage disequilibrium (LD) with the associated markers. Imputation analysis refined association between ADAMTSL3 and schizophrenia, and highlighted additional common variants with similar levels of association. We evaluated the functional consequences of all variants identified by sequencing, or showing direct or imputed association. The strongest evidence for function remained with the originally associated variant, rs950169, suggesting that this variant may be causal of the association. Rare variants were also identified with possible functional impact. Our study confirms ADAMTSL3 as a candidate for further investigation in schizophrenia, using the variants identified here. The utility of imputation analysis is demonstrated, and we recommend wider use of this method to re-evaluate the existing canon of suggestive schizophrenia associations.

Abstract

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

Abstract

This paper summarizes the results of a descriptive syntactic category analysis of child English no which reveals that young children use and represent no as a determiner and negatives like no pen as NPs, contra standard analyses.

Abstract

Previous studies have demonstrated that native listeners
modify their interpretation of a speech sound when a talker
produces an ambiguous sound in order to quickly tune into a
speaker, but there is hardly any evidence that non-native
listeners employ a similar mechanism when encountering
ambiguous pronunciations. So far, one study demonstrated
this lexically-guided perceptual learning effect for nonnatives,
using phoneme categories similar in the native
language of the listeners and the non-native language of the
stimulus materials. The present study investigates the question
whether phoneme category retuning is possible in a nonnative
language for a contrast, /l/-/r/, which is phonetically
differently embedded in the native (Dutch) and nonnative
(English) languages involved. Listening experiments indeed
showed a lexically-guided perceptual learning effect.
Assuming that Dutch listeners have different phoneme
categories for the native Dutch and non-native English /r/, as
marked differences between the languages exist for /r/, these
results, for the first time, seem to suggest that listeners are not
only able to retune their native phoneme categories but also
their non-native phoneme categories to include ambiguous
pronunciations.

Abstract

The article analyzes the relation between Aweti and Kamayurá on different levels. Both languages belong to different branches of the subfamily “Maweti-Guarani” within the large Tupi ‘stock’. Both peoples have arrived rather late to the complex Upper Xinguan society, but probably independently and from different directions. Both resulted from mergers of different groups and suffered a dramatic demographic decline in the first half of last century. There is no concrete evidence that these groups spoke varieties of more than 2 different languages (Pre-Aweti and Pre-Kamayurá). Today, many Aweti are at least passive bilinguals with Kamayurá, their most important allies, but the opposite does not hold. The article also discusses the relations between the languages on the main structural levels. In phonology, the phoneme inventories are compared and the sound changes are listed that occurred from the hypothetical proto-language “Proto-Maweti-Guarani” to Aweti, on the one hand, and to Proto-Tupi-Guarani and further to Kamayurá, on the other. In morpho-syntax, the article offers a comparison of the person systems and of affixes in general, treating in particular the so-called ‘relational prefixes’, which do not exist in Aweti. The most important syntactic shared properties are also listed. There seem to be very little mutual lexical borrowing. In the appendix, a list of more than 60 cognates with reconstructed proto-forms is given. Key-words: Aweti; Kamayurá; Sociolinguistics; History; Phonology.

Abstract

A key for understanding the Upper Xingu system is the comparison of the different languages which are part of that multilingual society. This article discusses the notion ‘comparing languages’ and delineates a research program in accordance to which a fruitful comparison can be done on four levels: 1) structural (phonological and morphosyntactic), 2) lexical (semantic structure of the lexica and individual lexical items), 3) discourse (figures of speech and thought), 4) content (in particular, narratives). The language data of the project gathered so far (focusing on level 2 and 4) is described in detail: 10 comparative word lists from different semantic domains, and a core of 5 analogous texts of different genera. Finally, some general considerations are offered about how to analyze both similarities and divergence found among the compared material.

Abstract

This paper describes the different kinds of nominalizations and the main forms used in subordination in Awetí, a Tupian language spoken by ca. 150 people in central Bra-zil in the Upper Xingu area. Awetí does not belong to, but is arguably the closest rela-tive of the well-known Tupí-Guaraní subfamily, the largest branch of the Tupí stock. In our analysis, subordination in Awetí is achieved by means of forms which may have developed from nominalizations, but which are synchronously possibly best classified as verbal moods, belonging into the verbal paradigm. On the other hand, nouns (and in particular nouns derived from verbs) often appear as predicates, especially in equality and cleft sentences.

Abstract

Since the late 1990s, the technical group at the Max-Planck-Institute for Psycholinguistics has worked on solutions for important challenges in building sustainable data archives, in particular, how to guarantee long-time-availability of digital research data for future research. The support for the well-known DOBES (Documentation of Endangered Languages) programme has greatly inspired and advanced this work, and lead to the ongoing development of a whole suite of tools for annotating, cataloguing and archiving multi-media data. At the core of the LAT (Language Archiving Technology) tools is the IMDI metadata schema, now being integrated into a larger network of digital resources in the European CLARIN project. The multi-media annotator ELAN (with its web-based cousin ANNEX) is now well known not only among documentary linguists. We aim at presenting an overview of the solutions, both achieved and in development, for creating and exploiting sustainable digital data, in particular in the area of documenting languages and cultures, and their interfaces with related other developments

Abstract

This paper describes the distribution and phonetic properties of accentuation of word forms in Awetí, a Tupian language spoken by ca. 150 people in central Brazil in the Upper Xingu area. Awetí does not belong to, but is arguably the closest relative of the better known Tupí-Guaraní subfamily, the largest branch of the Tupí stock. After a short overview over the word classes and general phonotactics of Awetí (sec-tion 2), we briefly discuss the notion ‘word accent’ and show that, in Awetí, it is generally located on the last syllable of the stem in morphologically simple forms (section 3). We then discuss regular and isolated exceptions to this rule (section 4). In section 5, we describe the distribution of the word accent when inflectional or deriva-tional suffixes are present – usually, the word accent of the word form with suffixes continues to be on the last syllable of the stem. After this descriptive part, we present a preliminary study of the acoustic-phonetic details of the manifestation of the word accent, observing word forms in isolation (section 6) and in different syntactic con-texts (section 7). The results are briefly summarized in the conclusion (section 8)

Abstract

Investigating human cognitive faculties such as language, attention, and memory most often relies on testing small and homogeneous groups of volunteers coming to research facilities where they are asked to participate in behavioral experiments. We show that this limitation and sampling bias can be overcome by using smartphone technology to collect data in cognitive science experiments from thousands of subjects from all over the world. This mass coordinated use of smartphones creates a novel and powerful scientific ‘‘instrument’’ that yields the data necessary to test universal theories of cognition. This increase in power represents a potential revolution in cognitive science

Abstract

This paper examines the Papuan languages of Island Melanesia, with a view to considering their typological similarities and differences. The East Papuan languages are thought to be the descendants of the languages spoken by the original inhabitants of Island Melanesia, who arrived in the area up to 50,000 years ago. The Oceanic Austronesian languages are thought to have come into the area with the Lapita peoples 3,500 years ago. With this historical backdrop in view, our paper seeks to investigate the linguistic relationships between the scattered Papuan languages of Island Melanesia. To do this, we survey various structural features, including syntactic patterns such as constituent order in clauses and noun phrases and other features of clause structure, paradigmatic structures of pronouns, and the structure of verbal morphology. In particular, we seek to discern similarities between the languages that might call for closer investigation, with a view to establishing genetic relatedness between some or all of the languages. In addition, in examining structural relationships between languages, we aim to discover whether it is possible to distinguish between original Papuan elements and diffused Austronesian elements of these languages. As this is a vast task, our paper aims merely to lay the groundwork for investigation into these and related questions.

Abstract

This paper analyzes newly collected lexical data from 26 languages of the Aslian subgroup of the Austroasiatic language family using computational phylogenetic methods. We show the most likely topology of the Aslian family tree, discuss rooting and external relationships to other Austroasiatic languages, and investigate differences in the rates of diversification of different branches. Evidence is given supporting the classification of Jah Hut as a fourth top level subgroup of the family. The phylogenetic positions of known geographic and linguistic outlier languages are clarified, and the relationships of the little studied Aslian languages of Southern Thailand to the rest of the family are explored.

Abstract

Languages vary widely but not without limit. The central goal of linguistics is to describe the diversity of human languages and explain the constraints on that diversity. Generative linguists following Chomsky have claimed that linguistic diversity must be constrained by innate parameters that are set as a child learns a language1, 2. In contrast, other linguists following Greenberg have claimed that there are statistical tendencies for co-occurrence of traits reflecting universal systems biases3, 4, 5, rather than absolute constraints or parametric variation. Here we use computational phylogenetic methods to address the nature of constraints on linguistic diversity in an evolutionary framework6. First, contrary to the generative account of parameter setting, we show that the evolution of only a few word-order features of languages are strongly correlated. Second, contrary to the Greenbergian generalizations, we show that most observed functional dependencies between traits are lineage-specific rather than universal tendencies. These findings support the view that—at least with respect to word order—cultural evolution is the primary factor that determines linguistic structure, with the current state of a linguistic system shaping and constraining future states.

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

Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.

Abstract

Impaired understanding of others' sensations and emotions as well as abnormal experience of their own emotions and sensations is frequently reported in individuals with Autism Spectrum Disorder (ASD). It is hypothesized that these abnormalities are based on altered connectivity within “shared” neural networks involved in emotional awareness of self and others. The insula is considered a central brain region in a network underlying these functions, being located at the transition of information about bodily arousal and the physiological state of the body to subjective feelings. The present study investigated the intrinsic functional connectivity properties of the insula in 14 high-functioning participants with ASD (HF-ASD) and 15 typically developing (TD) participants in the age range between 12 and 20 years by means of “resting state” or “nontask” functional magnetic resonance imaging. Essentially, a distinction was made between anterior and posterior regions of the insular cortex. The results show a reduced functional connectivity in the HF-ASD group, compared with the TD group, between anterior as well as posterior insula and specific brain regions involved in emotional and sensory processing. It is suggested that functional abnormalities in a network involved in emotional and interoceptive awareness might be at the basis of altered emotional experiences and impaired social abilities in ASD, and that these abnormalities are partly based on the intrinsic functional connectivity properties of such a network.

Abstract

In two experiments, we investigated whether body posture influences people’s estimation of quantities. According to the mental-number-line theory, people mentally represent numbers along a line with smaller numbers on the left and larger numbers on the right. We hypothesized that surreptitiously making people lean to the right or to the left would affect their quantitative estimates. Participants answered estimation questions while standing on a Wii Balance Board. Posture was manipulated within subjects so that participants answered some questions while they leaned slightly to the left, some questions while they leaned slightly to the right, and some questions while they stood upright. Crucially, participants were not aware of this manipulation. Estimates were significantly smaller when participants leaned to the left than when they leaned to the right.

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.