Publications

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

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

In a production experiment on Bulgarian that was based on a previous study on Dutch [1], we investigated the role of prosody when linguistic and extra-linguistic information coincide or contradict. Speakers described abnormally colored fruits in conditions where contrastive focus and discourse relations were varied. We found that the coincidence of contrast and abnormality enhances accentuation in Bulgarian as it did in Dutch. Surprisingly, when both factors are in conflict, the prosodic prominence of abnormality often overruled focus accentuation in both Bulgarian and Dutch, though the languages also show marked differences.

Abstract

Ultimate attainment in adult second language learners often differs tremendously from the end state typically achieved by young children learning their first language (L1) or a second language (L2). The research summarized in this article concentrates on developmental steps and orders of acquisition attested in learners of different ages. Findings from a longitudinal study concerned with the acquisition of verbal morpho-syntax in German as an L2 by two young Russian learners (8 and 14 years old) are compared to findings from the acquisition of the same target language by younger children and by untutored adult learners. The study focuses on the acquisition of verbal morphology, the role of auxiliary verbs and the position of finite and non finite verbs in relation to negation and additive scope particles.

Abstract

Based on their longitudinal analysis of the acquisition of Dutch, English, French, and German, Klein and Perdue (1997) described a “basic learner variety” as valid cross-linguistically and comprising a limited number of shared syntactic patterns interacting with two types of constraints: (a) semantic—the NP whose referent has highest control comes first, and (b) pragmatic—the focus expression is in final position. These authors hypothesized that “the topic-focus structure also plays an important role in some other respects. . . . Thus, negation and (other) scope particles occur at the topic-focus boundary” (p. 318). This poses the problem of the interaction between the core organizational principles of the basic variety and optional items such as negative particles and scope particles, which semantically affect the whole or part of the utterance in which they occur. In this article, we test the validity of these authors' hypothesis for the acquisition of the additive scope particle also (and its translation equivalents). Our analysis is based on the European Science Foundation (ESF) data originally used to define the basic variety, but we also included some more advanced learner data from the same database. In doing so, we refer to the analyses of Dimroth and Klein (1996), which concern the interaction between scope particles and the part of the utterance they affect, and we make a distinction between maximal scope—that which is potentially affected by the particle—and the actual scope of a particle in relation to an utterance in a given discourse context

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

Kyeei Yao, an age group leader, oversees a festival in Akpafu-Mempeasem, Volta Region, Ghana. The expensive draped cloth, Ashanti-inspired wreath, strings of beads that are handed down through the generations, and digital wristwatch work together to remind us that culture is a moving target, always renewing and reshaping itself. Kããã is a Siwu ideophone for "looking attentively".

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

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

This paper addresses the question why body-part terms are so often used to talk about other things than body parts. It is argued that the strategy of falling back on stable common ground to maximize the chances of successful communication is the driving force behind the selective advantage of body-part terms. The many different ways in which languages may implement this universal strategy suggest that, in order to properly understand the privileged role of the body in the evolution of linguistic signs, we have to look beyond the body to language in its socio-cultural context. A theory which acknowledges the interacting influences of stable common ground and diversified cultural practices on the evolution of linguistic signs will offer the most explanatory power for both universal patterns and language-specific variation.

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

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

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

This article describes and analyses nasal harmony (or spreading of nasality) in Awetí. It first shows generally how sounds in prefixes adapt to nasality or orality of stems, and how nasality in stems also ‘extends’ to the left. With abstract templates we show which phonetically nasal or oral sequences are possible in Awetí (focusing on stops, pre-nasalized stops and nasals) and which phonological analysis is appropriate for account for this regularities. In Awetí, there are intrinsically nasal and oral vowels and ‘neutral’ vowels which adapt phonetically to a following vowel or consonant, as is the case of sonorant consonants. Pre-nasalized stops such as “nt” are nasalized variants of stops, not post-oralized variants of nasals as in Tupí-Guaranian languages. For nasals and stops in syllable coda (end of morphemes), we postulate arqui-phonemes which adapt to the preceding vowel or a following consonant. Finally, using a declarative approach, the analysis formulates ‘rules’ (statements) which account for the ‘behavior’ of nasality in Awetí words, making use of “structured sequences” on both the phonetic and phonological levels. So, each unit (syllable, morpheme, word etc.) on any level has three components, a sequence of segments, a constituent structure (where pre-nasalized stops, like diphthongs, correspond to two segments), and an intonation structure. The statements describe which phonetic variants can be combined (concatenated) with which other variants, depending on their nasality or orality.

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

Previous studies, including Duffield and Matsuo (2001; 2002; 2009), have demonstrated second language learners’ overall sensitivity to a parallelism constraint governing English VP-ellipsis constructions: like native speakers (NS), advanced Dutch, Spanish and Japanese learners of English reliably prefer ellipsis clauses with structurally parallel antecedents over those with non-parallel antecedents. However, these studies also suggest that, in contrast to English native speakers, L2 learners’ sensitivity to parallelism is strongly influenced by other non-syntactic formal factors, such that the constraint applies in a comparatively restricted range of construction-specific contexts. This article reports a set of follow-up experiments — from both computer-based as well as more traditional acceptability judgement tasks — that systematically manipulates these other factors. Convergent results from these tasks confirm a qualitative difference in the judgement patterns of the two groups, as well as important differences between theoreticians’ judgements and those of typical native speakers. We consider the implications of these findings for theories of ultimate attainment in second language acquisition (SLA), as well as for current theoretical accounts of ellipsis.

Abstract

This paper shows that despite evidence of structural convergence between some of the Austronesian and non-Austronesian (Papuan) languages of Island Melanesia, statistical methods can detect two independent genealogical signals derived from linguistic structural features. Earlier work by the author and others has presented a maximum parsimony analysis which gave evidence for a genealogical connection between the non-Austronesian languages of island Melanesia. Using the same data set, this paper demonstrates for the non-statistician the application of more sophisticated statistical techniques—including Bayesian methods of phylogenetic inference, and shows that the evidence for common ancestry is if anything stronger than originally supposed.

Abstract

This paper examines the effects of language standardization and orthography design on the Chukchi linguistic ecology. The process of standardisation has not taken into consideration the gender-based sociolects of colloquial Chukchi and is based on a grammaticaldescriptionwhich does not reflectactual Chukchi use; as a result standard Chukchi has not gained a place in the Chukchi language ecology. The Cyrillic orthography developed for Chukchi is also problematic as it is based on features of Russian phonology, rather than on Chukchi itself: this has meant that a knowledge of written Chukchi is dependent on a knowledge of the principles of Russian orthography. The aspects of language planning have had a large impact on the pre-existing Chukchi language ecology which has contributed to the obsolescence of the colloquial language.

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

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

We investigated the roles of top-down task set and bottom-up stimulus salience for feature-specific attentional capture. ERPs and behavioural performance were measured in two experiments where spatially nonpredictive cues preceded visual search arrays that included a colour-defined target. When cue arrays contained a target-colour singleton, behavioural spatial cueing effects were accompanied by a cue-induced N2pc component, indicative of attentional capture. Behavioural cueing effects and N2pc components were only minimally attenuated for non-singleton relative to singleton target-colour cues, demonstrating that top-down task set has a much greater impact on attentional capture than bottom-up salience. For nontarget-colour singleton cues, no N2pc was triggered, but an anterior N2 component indicative of top-down inhibition was observed. In Experiment 2, these cues produced an inverted behavioural cueing effect, which was accompanied by a delayed N2pc to targets presented at cued locations. These results suggest that perceptually salient visual stimuli without task-relevant features trigger a transient location-specific inhibition process that prevents attentional capture, but delays the selection of subsequent target events.

Abstract

How involved in an event is a person that possesses one of the event participants? Some languages can treat such “external possessors” as very closely involved, even marking them on the verb along with core roles such as subject and object. Other languages only allow possessors to be expressed as non-core participants. This task explores possibilities for the encoding of possessors and other related roles such as beneficiaries. The materials consist of a sequence of thirty drawings designed to elicit target construction types.

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

It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene of mice. Although these mice are generally healthy, they have qualitatively different ultrasonic vocalizations, decreased exploratory behavior and decreased dopamine concentrations in the brain suggesting that the humanized Foxp2 allele affects basal ganglia. In the striatum, a part of the basal ganglia affected in humans with a speech deficit due to a nonfunctional FOXP2 allele, we find that medium spiny neurons have increased dendrite lengths and increased synaptic plasticity. Since mice carrying one nonfunctional Foxp2 allele show opposite effects, this suggests that alterations in cortico-basal ganglia circuits might have been important for the evolution of speech and language in humans.

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

This chapter discusses some of the elements of human sociality that serve as the social and cognitive infrastructure or preconditions for the use of requests and other kinds of recruitments in interaction. The notion of an agent with goals is a canonical starting point, though importantly agency tends not to be wholly located in individuals, but rather is socially distributed. This is well illustrated in the case of requests, in which the person or group that has a certain goal is not necessarily the one who carries out the behavior towards that goal. The chapter focuses on the role of semiotic (mostly linguistic) resources in negotiating the distribution of agency with request-like actions, with examples from video-recorded interaction in Lao, a language spoken in Laos and nearby countries. The examples illustrate five hallmarks of requesting in human interaction, which show some ways in which our ‘manipulation’ of other people is quite unlike our manipulation of tools: (1) that even though B is being manipulated, B wants to help, (2) that while A is manipulating B now, A may be manipulated in return later; (3) that the goal of the behavior may be shared between A and B, (4) that B may not comply, or may comply differently than requested, due to actual or potential contingencies, and (5) that A and B are accountable to one another; reasons may be asked for, and/or given, for the request. These hallmarks of requesting are grounded in a prosocial framework of human agency.

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

What causes a language to be the way it is? Some features are universal, some are inherited, others are borrowed, and yet others are internally innovated. But no matter where a bit of language is from, it will only exist if it has been diffused and kept in circulation through social interaction in the history of a community. This book makes the case that a proper understanding of the ontology of language systems has to be grounded in the causal mechanisms by which linguistic items are socially transmitted, in communicative contexts. A biased transmission model provides a basis for understanding why certain things and not others are likely to develop, spread, and stick in languages. Because bits of language are always parts of systems, we also need to show how it is that items of knowledge and behavior become structured wholes. The book argues that to achieve this, we need to see how causal processes apply in multiple frames or 'time scales' simultaneously, and we need to understand and address each and all of these frames in our work on language. This forces us to confront implications that are not always comfortable: for example, that "a language" is not a real thing but a convenient fiction, that language-internal and language-external processes have a lot in common, and that tree diagrams are poor conceptual tools for understanding the history of languages. By exploring avenues for clear solutions to these problems, this book suggests a conceptual framework for ultimately explaining, in causal terms, what languages are like and why they are like that.

Abstract

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

Abstract

The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.

Abstract

Human actions in the social world – like greeting, requesting, complaining, accusing, asking, confirming, etc. – are recognised through the interpretation of signs. Language is where much of the action is, but gesture, facial expression and other bodily actions matter as well. The goal of this task is to establish a maximally rich description of a representative, good quality piece of conversational interaction, which will serve as a reference point for comparative exploration of the status of social actions and their formulation across language

Abstract

The social world is an ecological complex in which cultural meanings and knowledges (linguistic and non-linguistic) personally embodied by individuals are intercalibrated via common attention to commonly accessible semiotic structures. This interpersonal ecology bridges realms which are the subject matter of both anthropology and linguistics, allowing the public maintenance of a system of assumptions and counter-assumptions among individuals as to what is mutually known (about), in general and/or in any particular context. The mutual assumption of particular cultural ideas provides human groups with common premises for predictably convergent inferential processes. This process of people collectively using effectively identical assumptions in interpreting each other's actions—i.e. hypothesizing as to each other's motivations and intentions—may be termed cultural logic. This logic relies on the establishment of stereotypes and other kinds of precedents, catalogued in individuals’ personal libraries, as models and scenarios which may serve as reference in inferring and attributing motivations behind people's actions, and behind other mysterious phenomena. This process of establishing conceptual convention depends directly on semiotics, since groups of individuals rely on external signs as material for common focus and, thereby, agreement. Social intelligence binds signs in the world (e.g. speech sounds impressing upon eardrums), with individually embodied representations (e.g. word meanings and contextual schemas). The innate tendency for people to model the intentions of others provides an ultimately biological account for the logic behind culture. Ethnographic examples are drawn from Laos and Australia.

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.