Publications

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.

Abstract

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

Abstract

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

Abstract

This chapter discusses the genetic foundations of the human capacity for language. It reviews the molecular structure of the genome and the complex molecular mechanisms that allow genetic information to influence multiple levels of biology. It goes on to describe the active regulation of genes and their formation of complex genetic pathways that in turn control the cellular environment and function. At each of these levels, examples of genes and genetic variants that may influence the human capacity for language are given. Finally, it discusses the value of using animal models to understand the genetic underpinnings of speech and language. From this chapter will emerge the complexity of the genome in action and the multidisciplinary efforts that are currently made to bridge the gap between genetics and language.

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

Do interlocutors adjust their conversational strategies to the specific contextual demands of a given situation? Prior studies have yielded conflicting results, making it unclear how strategies vary with demands. We combine insights from qualitative and quantitative approaches in a within-participant experimental design involving two different contexts: spontaneously occurring conversations (SOC) and task-oriented conversations (TOC). We systematically assess backchanneling, other-repair and linguistic alignment. We find that SOC exhibit a higher number of backchannels, a reduced and more generic repair format and higher rates of lexical and syntactic alignment. TOC are characterized by a high number of specific repairs and a lower rate of lexical and syntactic alignment. However, when alignment occurs, more linguistic forms are aligned. The findings show that conversational strategies adapt to specific contextual demands.

Abstract

Developing efficient electromagnetic interference shielding materials has become significantly important in present times. This paper reports a series of (Ba1-xCax)(Ti0.9Sn0.1)O3 (BCTS) ((x =0, 0.01, 0.05, & 0.1)ceramics synthesized by conventional method which were studied for electromagnetic interference shielding (EMI) applications in X-band (8-12.4 GHz). EMI shielding properties and all S parameters (S11 & S12) of BCTS ceramic pellets were measured in the frequency range (8-12.4 GHz) using a Vector Network Analyser (VNA). The BCTS ceramic pellets for x = 0.05 showed maximum total effective shielding of 46 dB indicating good shielding behaviour for high-frequency applications. However, the development of lead-free ceramics with different concentrations usually requires iterative experiments resulting in, longer development cycles and higher costs. To address this, we used a machine learning (ML) strategy to predict the EMI shielding for different concentrations and experimentally verify the concentration predicted to give the best EMI shielding. The ML model predicted BCTS ceramics with concentration (x = 0.06, 0.07, 0.08, and 0.09) to have higher shielding values. On experimental verification, a shielding value of 58 dB was obtained for x = 0.08, which was significantly higher than what was obtained experimentally before applying the ML approach. Our results show the potential of using ML in accelerating the process of optimal material development, reducing the need for repeated experimental measures significantly.

Abstract

Human language offers a variety of ways to create meaning, one of which is referring to entities, objects, or events in the world. One such meaning maker is understanding to whom or to what a pronoun in a discourse refers to. To understand a pronoun, the brain must access matching entities or concepts that have been encoded in memory from previous linguistic context. Models of language processing propose that internally stored linguistic concepts, accessed via exogenous cues such as phonological input of a word, are represented as (a)synchronous activities across a population of neurons active at specific frequency bands. Converging evidence suggests that delta band activity (1–3 Hz) is involved in temporal and representational integration during sentence processing. Moreover, recent advances in the neurobiology of memory suggest that recollection engages neural dynamics similar to those which occurred during memory encoding. Integrating from these two research lines, we here tested the hypothesis that neural dynamic patterns, especially in delta frequency range, underlying referential meaning representation, would be reinstated during pronoun resolution. By leveraging neural decoding techniques (i.e., representational similarity analysis) on a magnetoencephalogram data set acquired during a naturalistic story-listening task, we provide evidence that delta-band activity underlies referential meaning representation. Our findings suggest that, during spoken language comprehension, endogenous linguistic representations such as referential concepts may be proactively retrieved and represented via activation of their underlying dynamic neural patterns.

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

This chapter makes the case for ‘ideophone’ as a comparative concept: a notion that captures a recurrent typological pattern and provides a template for understanding language-specific phenomena that prove similar. It revises an earlier definition to account for the observation that ideophones typically form an open lexical class, and uses insights from canonical typology to explore the larger typological space. According to the resulting definition, a canonical ideophone is a member of an open lexical class of marked words that depict sensory imagery. The five elements of this definition can be seen as dimensions that together generate a possibility space to characterise cross-linguistic diversity in depictive means of expression. This approach allows for the systematic comparative treatment of ideophones and ideophone-like phenomena. Some phenomena in the larger typological space are discussed to demonstrate the utility of the approach: phonaesthemes in European languages, specialised semantic classes in West-Chadic, diachronic diversions in Aslian, and depicting constructions in signed languages.

Abstract

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

Abstract

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

Abstract

The robustness and flexibility of human language is underpinned by a machinery of interactive repair. Repair is deeply intertwined with two core properties of human language: reflexivity (it can communicate about itself) and accountability (it is used to publicly enforce social norms). We review empirical and theoretical advances from across the cognitive sciences that mark interactive repair as a domain of pragmatic universals, a key place to study metacognition in interaction, and a system that enables collective computation. This provides novel insights on the role of repair in comparative cognition, language development and human-computer interaction. As an always-available fallback option and an infrastructure for negotiating social commitments, interactive repair is foundational to the resilience, complexity, and flexibility of human language.

Abstract

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

Abstract

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

Abstract

Prediction-based accounts of language acquisition have the potential to explain several different effects in child language acquisition and adult language processing. However, evidence regarding the developmental predictions of such accounts is mixed. Here, we consider several predictions of these accounts in two large-scale developmental studies of syntactic priming of the English dative alternation. Study 1 was a cross-sectional study (N = 140) of children aged 3−9 years, in which we found strong evidence of abstract priming and the lexical boost, but little evidence that either effect was moderated by age. We found weak evidence for a prime surprisal effect; however, exploratory analyses revealed a protracted developmental trajectory for verb-structure biases, providing an explanation as for why prime surprisal effects are more elusive in developmental populations. In a longitudinal study (N = 102) of children in tightly controlled age bands at 42, 48, and 54 months, we found priming effects emerged on trials with verb overlap early but did not observe clear evidence of priming on trials without verb overlap until 54 months. There was no evidence of a prime surprisal effect at any time point and none of the effects were moderated by age. The results relating to the emergence of the abstract priming and lexical boost effects are consistent with prediction-based models, while the absence of age-related effects appears to reflect the structure-specific challenges the dative presents to English-acquiring children. Overall, our complex pattern of findings demonstrates the value of developmental data sets in testing psycholinguistic theory.

Abstract

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

Abstract

Visual information conveyed by iconic hand gestures and visible speech can enhance speech comprehension under adverse listening conditions for both native and non‐native listeners. However, how a listener allocates visual attention to these articulators during speech comprehension is unknown. We used eye‐tracking to investigate whether and how native and highly proficient non‐native listeners of Dutch allocated overt eye gaze to visible speech and gestures during clear and degraded speech comprehension. Participants watched video clips of an actress uttering a clear or degraded (6‐band noise‐vocoded) action verb while performing a gesture or not, and were asked to indicate the word they heard in a cued‐recall task. Gestural enhancement was the largest (i.e., a relative reduction in reaction time cost) when speech was degraded for all listeners, but it was stronger for native listeners. Both native and non‐native listeners mostly gazed at the face during comprehension, but non‐native listeners gazed more often at gestures than native listeners. However, only native but not non‐native listeners' gaze allocation to gestures predicted gestural benefit during degraded speech comprehension. We conclude that non‐native listeners might gaze at gesture more as it might be more challenging for non‐native listeners to resolve the degraded auditory cues and couple those cues to phonological information that is conveyed by visible speech. This diminished phonological knowledge might hinder the use of semantic information that is conveyed by gestures for non‐native compared to native listeners. Our results demonstrate that the degree of language experience impacts overt visual attention to visual articulators, resulting in different visual benefits for native versus non‐native listeners.

Abstract

Listeners are often challenged by adverse listening conditions during language comprehension induced by external factors, such as noise, but also internal factors, such as being a non-native listener. Visible cues, such as semantic information conveyed by iconic gestures, can enhance language comprehension in such situations. Using magnetoencephalography (MEG) we investigated whether spatiotemporal oscillatory dynamics can predict a listener's benefit of iconic gestures during language comprehension in both internally (non-native versus native listeners) and externally (clear/degraded speech) induced adverse listening conditions. Proficient non-native speakers of Dutch were presented with videos in which an actress uttered a degraded or clear verb, accompanied by a gesture or not, and completed a cued-recall task after every video. The behavioral and oscillatory results obtained from non-native listeners were compared to an MEG study where we presented the same stimuli to native listeners (Drijvers et al., 2018a). Non-native listeners demonstrated a similar gestural enhancement effect as native listeners, but overall scored significantly slower on the cued-recall task. In both native and non-native listeners, an alpha/beta power suppression revealed engagement of the extended language network, motor and visual regions during gestural enhancement of degraded speech comprehension, suggesting similar core processes that support unification and lexical access processes. An individual's alpha/beta power modulation predicted the gestural benefit a listener experienced during degraded speech comprehension. Importantly, however, non-native listeners showed less engagement of the mouth area of the primary somatosensory cortex, left insula (beta), LIFG and ATL (alpha) than native listeners, which suggests that non-native listeners might be hindered in processing the degraded phonological cues and coupling them to the semantic information conveyed by the gesture. Native and non-native listeners thus demonstrated similar yet distinct spatiotemporal oscillatory dynamics when recruiting visual cues to disambiguate degraded speech.

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

Este trabalho descreve e fundamenta a ortografia da língua Awetí (Tupí, Alto Xingu/mt), com base na análise da estrutura fonológica e gramatical do Awetí. A ortografia é resultado de um longo trabalho colaborativo entre os três autores, iniciado em 1998. Ela não define apenas um alfabeto (a representação das vogais e das consoantes da língua), mas também aborda a variação interna, ressilabificação, lenição, palatalização e outros processos (morfo‑)fonológicos. Tanto a representação escrita da oclusiva glotal, quanto as consequências ortográficas da harmonia nasal receberam uma atenção especial. Apesar de o acento lexical não ser ortograficamente marcado em Awetí, a grande maioria dos afixos e partículas é abordada considerando o acento e sua interação com morfemas adjacentes, ao mesmo tempo determinando as palavras ortográficas. Finalmente foi estabelecida a ordem alfabética em que dígrafos são tratados como sequências de letras, já a oclusiva glotal ⟨ʼ⟩ é ignorada, facilitando o aprendizado do Awetí. A ortografia tal como descrita aqui tem sido usada por aproximadamente dez anos na escola para a alfabetização em Awetí, com bons resultados obtidos. Acreditamos que vários dos argumentos aqui levantados podem ser produtivamente transferidos para outras línguas com fenômenos semelhantes (a oclusiva glotal como consoante, harmonia nasal, assimilação morfo-fonológica, etc.).

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

Although there is a large body of research assessing whether exposure to narratives boosts social cognition immediately afterward, not much research has investigated the underlying mechanism of this putative effect. This experiment investigates the possibility that reading a narrative increases social curiosity directly afterward, which might explain the short-term boosts in social cognition reported by some others. We developed a novel measure of state social curiosity and collected data from participants (N = 222) who were randomly assigned to read an excerpt of narrative fiction or expository nonfiction. Contrary to our expectations, we found that those who read a narrative exhibited less social curiosity afterward than those who read an expository text. This result was not moderated by trait social curiosity. An exploratory analysis uncovered that the degree to which texts present readers with social targets predicted less social curiosity. Our experiment demonstrates that reading narratives, or possibly texts with social content in general, may engage and fatigue social-cognitive abilities, causing a temporary decrease in social curiosity. Such texts might also temporarily satisfy the need for social connection, temporarily reducing social curiosity. Both accounts are in line with theories describing how narratives result in better social cognition over the long term.

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

Previous studies have shown that speakers align their speech to each other at multiple linguistic levels. This study investigates whether alignment is mostly the result of priming from the immediately preceding
speech materials, focussing on pitch and articulation rate (AR). Native Dutch speakers completed sentences, first by themselves (pre-test), then in alternation with Confederate 1 (Round 1), with Confederate 2 (Round 2), with Confederate 1 again
(Round 3), and lastly by themselves again (post-test). Results indicate that participants aligned to the confederates and that this alignment lasted during the post-test. The confederates’ directly preceding sentences were not good predictors for the participants’ pitch and AR. Overall, the results indicate that alignment is more of a global effect than a local priming effect.

Abstract

Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.

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

Genetic investigations of people with speech and language disorders can provide windows into key aspects of human biology. Most genomic research into impaired speech development has so far focused on childhood apraxia of speech (CAS), a rare neurodevelopmental disorder characterized by difficulties with coordinating rapid fine motor sequences that underlie proficient speech. In 2001, pathogenic variants of FOXP2 provided the first molecular genetic accounts of CAS aetiology. Since then, disruptions in several other genes have been implicated in CAS, with a substantial proportion of cases being explained by high-penetrance variants. However, the genetic architecture underlying other speech-related disorders remains less well understood. Thus, in the present study, we used systematic DNA sequencing methods to investigate idiopathic speech delay, as characterized by delayed speech development in the absence of a motor speech diagnosis (such as CAS), a language/reading disorder, or intellectual disability. We performed genome sequencing in a cohort of 23 children with a rigorous diagnosis of idiopathic speech delay. For roughly half of the sample (ten probands), sufficient DNA was also available for genome sequencing in both parents, allowing discovery of de novo variants. In the thirteen singleton probands, we focused on identifying loss-of-function and likely damaging missense variants in genes intolerant to such mutations. We found that one speech delay proband carried a pathogenic frameshift deletion in SETD1A, a gene previously implicated in a broader variable monogenic syndrome characterized by global developmental problems including delayed speech and/or language development, mild intellectual disability, facial dysmorphisms, and behavioural and psychiatric symptoms. Of note, pathogenic SETD1A variants have been independently reported in children with CAS in two separate studies. In other probands in our speech delay cohort, likely pathogenic missense variants were identified affecting highly conserved amino acids in key functional domains of SPTBN1 and ARF3. Overall, this study expands the phenotype spectrum associated with pathogenic SETD1A variants, to also include idiopathic speech delay without CAS or intellectual disability, and suggests additional novel potential candidate genes that may harbour high-penetrance variants that can disrupt speech development.

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

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

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

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

Abstract

How do people answer polar questions? In this fourteen-language study of answers to questions in conversation, we compare the two main strategies; first, interjection-type answers such as uh-huh (or equivalents yes, mm, head nods, etc.), and second, repetition-type answers that repeat some or all of the question. We find that all languages offer both options, but that there is a strong asymmetry in their frequency of use, with a global preference for interjection-type answers. We propose that this preference is motivated by the fact that the two options are not equivalent in meaning. We argue that interjection-type answers are intrinsically suited to be the pragmatically unmarked, and thus more frequent, strategy for confirming polar questions, regardless of the language spoken. Our analysis is based on the semantic-pragmatic profile of the interjection-type and repetition-type answer strategies, in the context of certain asymmetries inherent to the dialogic speech act structure of question–answer sequences, including sequential agency and thematic agency. This allows us to see possible explanations for the outlier distributions found in ǂĀkhoe Haiǁom and Tzeltal.

Abstract

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

Abstract

Purpose:
Stuttering is a speech condition that can have a major impact on a person's quality of life. This descriptive study aimed to identify subgroups of people who stutter (PWS) based on stuttering burden and to investigate differences between these subgroups on psychosocial aspects of life.

Method:
The study included 618 adult participants who stutter. They completed a detailed survey examining stuttering symptomatology, impact of stuttering on anxiety, education and employment, experience of stuttering, and levels of depression, anxiety, and stress. A two-step cluster analytic procedure was performed to identify subgroups of PWS, based on self-report of stuttering frequency, severity, affect, and anxiety, four measures that together inform about stuttering burden.

Results:
We identified a high- (n = 230) and a low-burden subgroup (n = 372). The high-burden subgroup reported a significantly higher impact of stuttering on education and employment, and higher levels of general depression, anxiety, stress, and overall impact of stuttering. These participants also reported that they trialed more different stuttering therapies than those with lower burden.

Conclusions:
Our results emphasize the need to be attentive to the diverse experiences and needs of PWS, rather than treating them as a homogeneous group. Our findings also stress the importance of personalized therapeutic strategies for individuals with stuttering, considering all aspects that could influence their stuttering burden. People with high-burden stuttering might, for example, have a higher need for psychological therapy to reduce stuttering-related anxiety. People with less emotional reactions but severe speech distortions may also have a moderate to high burden, but they may have a higher need for speech techniques to communicate with more ease. Future research should give more insights into the therapeutic needs of people highly burdened by their stuttering.

Abstract

Over the decades, high-intensity language learners scattered over the globe referred to as “hyperpolyglots” have undertaken a natural experiment into the limits of learning and acquiring proficiencies in multiple languages. This chapter details several ways in which hyperpolyglots are relevant to research on aptitude. First, historical hyperpolyglots Cardinal Giuseppe Mezzofanti, Emil Krebs, Elihu Burritt, and Lomb Kató are described in terms of how they viewed their own exceptional outcomes. Next, I draw on results from an online survey with 390 individuals to explore how contemporary hyperpolyglots consider the explanatory value of aptitude. Third, the challenges involved in studying the genetic basis of hyperpolyglottism (and by extension of language aptitude) are discussed. This mosaic of data is meant to inform the direction of future aptitude research that takes hyperpolyglots, one type of exceptional language learner and user, into account.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Studies of the impact of brain injury on memory processes often focus on the quantity and episodic richness of those recollections. Here, we argue that the organization of one's recollections offers critical insights into the impact of brain injury on functional memory. It is well-established in studies of word list memory that free recall of unrelated words exhibits a clear temporal organization. This temporal contiguity effect refers to the fact that the order in which word lists are recalled reflects the original presentation order. Little is known, however, about the organization of recall for semantically rich materials, nor how recall organization is impacted by hippocampal damage and memory impairment. The present research is the first study, to our knowledge, of temporal organization in semantically rich narratives in three groups: (1) Adults with bilateral hippocampal damage and severe declarative memory impairment, (2) adults with bilateral ventromedial prefrontal cortex (vmPFC) damage and no memory impairment, and (3) demographically matched non-brain-injured comparison participants. We find that although the narrative recall of adults with bilateral hippocampal damage reflected the temporal order in which those narratives were experienced above chance levels, their temporal contiguity effect was significantly attenuated relative to comparison groups. In contrast, individuals with vmPFC damage did not differ from non-brain-injured comparison participants in temporal contiguity. This pattern of group differences yields insights into the cognitive and neural systems that support the use of temporal organization in recall. These data provide evidence that the retrieval of temporal context in narrative recall is hippocampal-dependent, whereas damage to the vmPFC does not impair the temporal organization of narrative recall. This evidence of limited but demonstrable organization of memory in participants with hippocampal damage and amnesia speaks to the power of narrative structures in supporting meaningfully organized recall despite memory impairment.

Abstract

The value of normative models in research and clinical practice relies on their robustness and a systematic comparison of different modelling algorithms and parameters; however, this has not been done to date. We aimed to identify the optimal approach for normative modelling of brain morphometric data through systematic empirical benchmarking, by quantifying the accuracy of different algorithms and identifying parameters that optimised model performance. We developed this framework with regional morphometric data from 37 407 healthy individuals (53% female and 47% male; aged 3–90 years) from 87 datasets from Europe, Australia, the USA, South Africa, and east Asia following a comparative evaluation of eight algorithms and multiple covariate combinations pertaining to image acquisition and quality, parcellation software versions, global neuroimaging measures, and longitudinal stability. The multivariate fractional polynomial regression (MFPR) emerged as the preferred algorithm, optimised with non-linear polynomials for age and linear effects of global measures as covariates. The MFPR models showed excellent accuracy across the lifespan and within distinct age-bins and longitudinal stability over a 2-year period. The performance of all MFPR models plateaued at sample sizes exceeding 3000 study participants. This model can inform about the biological and behavioural implications of deviations from typical age-related neuroanatomical changes and support future study designs. The model and scripts described here are freely available through CentileBrain.

Abstract

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

Abstract

The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.

Abstract

This paper shows that the dictation task, a well-
known testing instrument in language education, has
untapped potential as a research tool for studying
speech perception. We describe how transcriptions
can be scored on measures of lexical, orthographic,
phonological, and semantic similarity to target
phrases to provide comprehensive information about
accuracy at different processing levels. The former
three measures are automatically extractable,
increasing objectivity, and the middle two are
gradient, providing finer-grained information than
traditionally used. We evaluate the measures in an
English dictation task featuring phonetically reduced
continuous speech. Whereas the lexical and
orthographic measures emphasize listeners’ word
identification difficulties, the phonological measure
demonstrates that listeners can often still recover
phonological features, and the semantic measure
captures their ability to get the gist of the utterances.
Correlational analyses and a discussion of practical
and theoretical considerations show that combining
multiple measures improves the dictation task’s
utility as a research tool.

Abstract

Lexically guided perceptual learning has traditionally been studied with ambiguous consonant sounds to which native listeners are exposed in a purely receptive listening context. To extend previous research, we investigate whether lexically guided learning applies to a vowel shift encountered by non-native listeners in an interactive dialogue. Dutch participants played a two-player game in English in either a control condition, which contained no evidence for a vowel shift, or a lexically constraining condition, in which onscreen lexical information required them to re-interpret their interlocutor’s /ɪ/ pronunciations as representing /ε/. A phonetic categorization pre-test and post-test were used to assess whether the game shifted listeners’ phonemic boundaries such that more of the /ε/-/ɪ/ continuum came to be perceived as /ε/. Both listener groups showed an overall post-test shift toward /ɪ/, suggesting that vowel perception may be sensitive to directional biases related to properties of the speaker’s vowel space. Importantly, listeners in the lexically constraining condition made relatively more post-test /ε/ responses than the control group, thereby exhibiting an effect of lexically guided adaptation. The results thus demonstrate that non-native listeners can adjust their phonemic boundaries on the basis of lexical information to accommodate a vowel shift learned in interactive conversation.

Abstract

When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.

Abstract

A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

Abstract

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

Abstract

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

Abstract

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

Abstract

FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.

Abstract

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

Abstract

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

Abstract

Event-related potentials (ERPs) provide a window into how the brain is processing language. Here, we propose a theory that argues that ERPs such as the N400 and P600 arise as side effects of an error-based learning mechanism that explains linguistic adaptation and language learning. We instantiated this theory in a connectionist model that can simulate data from three studies on the N400 (amplitude modulation by expectancy, contextual constraint, and sentence position), five studies on the P600 (agreement, tense, word category, subcategorization and garden-path sentences), and a study on the semantic P600 in role reversal anomalies. Since ERPs are learning signals, this account explains adaptation of ERP amplitude to within-experiment frequency manipulations and the way ERP effects are shaped by word predictability in earlier sentences. Moreover, it predicts that ERPs can change over language development. The model provides an account of the sensitivity of ERPs to expectation mismatch, the relative timing of the N400 and P600, the semantic nature of the N400, the syntactic nature of the P600, and the fact that ERPs can change with experience. This approach suggests that comprehension ERPs are related to sentence production and language acquisition mechanisms

Abstract

The language faculty is physically realized in the neurobiological infrastructure of the human brain. Despite significant efforts, an integrated understanding of this system remains a formidable challenge. What is missing from most theoretical accounts is a specification of the neural mechanisms that implement language function. Computational models that have been put forward generally lack an explicit neurobiological foundation. We propose a neurobiologically informed causal modeling approach which offers a framework for how to bridge this gap. A neurobiological causal model is a mechanistic description of language processing that is grounded in, and constrained by, the characteristics of the neurobiological substrate. It intends to model the generators of language behavior at the level of implementational causality. We describe key features and neurobiological component parts from which causal models can be built and provide guidelines on how to implement them in model simulations. Then we outline how this approach can shed new light on the core computational machinery for language, the long-term storage of words in the mental lexicon and combinatorial processing in sentence comprehension. In contrast to cognitive theories of behavior, causal models are formulated in the “machine language” of neurobiology which is universal to human cognition. We argue that neurobiological causal modeling should be pursued in addition to existing approaches. Eventually, this approach will allow us to develop an explicit computational neurobiology of language.

Abstract

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

Abstract

Traditionally, language processing has been thought of in terms of complete processing of the input. In contrast to this, Ferreira and colleagues put forth the idea of good enough processing. The proposal was that during everyday processing, ambiguities remain unresolved, we rely on heuristics instead of full analyses, and we carry out deep processing only if we need to for the task at hand. This idea has gathered substantial traction since its conception. In the current work, I review the papers that have tested the three key claims of good enough processing: ambiguities remain unresolved and underspecified, we use heuristics to parse sentences, and deep processing is only carried out if required by the task. I find mixed evidence for these claims and conclude with an appeal to further refinement of the claims and predictions of the theory.

Abstract

Earlier work has explored spoken word production during irrelevant background speech such as intelligible and unintelligible word lists. The present study compared how different types of irrelevant background speech (word lists vs. sentences) influenced spoken word production relative to a quiet control condition, and whether the influence depended on the intelligibility of the background speech. Experiment 1 presented native Dutch speakers with Chinese word lists and sentences. Experiment 2 presented a similar group with Dutch word lists and sentences. In both experiments, the lexical selection demands in speech production were manipulated by varying name agreement (high vs. low) of the to-be-named pictures. Results showed that background speech, regardless of its intelligibility, disrupted spoken word production relative to a quiet condition, but no effects of word lists versus sentences in either language were found. Moreover, the disruption by intelligible background speech compared with the quiet condition was eliminated when planning low name agreement pictures. These findings suggest that any speech, even unintelligible speech, interferes with production, which implies that the disruption of spoken word production is mainly phonological in nature. The disruption by intelligible background speech can be reduced or eliminated via top–down attentional engagement.

Abstract

Previous research on the effect of perturbed auditory feedback in speech production has focused on two types of responses. In the short term, speakers generate compensatory motor commands in response to unexpected perturbations. In the longer term, speakers adapt feedforward motor programmes in response to feedback perturbations, to avoid future errors. The current study investigated the relation between these two types of responses to altered auditory feedback. Specifically, it was hypothesised that consistency in previous feedback perturbations would influence whether speakers adapt their feedforward motor programmes. In an altered auditory feedback paradigm, formant perturbations were applied either across all trials (the consistent condition) or only to some trials, whereas the others remained unperturbed (the inconsistent condition). The results showed that speakers’ responses were affected by feedback consistency, with stronger speech changes in the consistent condition compared with the inconsistent condition. Current models of speech-motor control can explain this consistency effect. However, the data also suggest that compensation and adaptation are distinct processes, which are not in line with all current models.

Abstract

Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. In mice EHMT1 deficiency leads to similar neuronal network impairments with increased NMDAR function. Finally, we rescue the KS patient-derived neuronal network phenotypes by pharmacological inhibition of NMDARs. Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.

Abstract

Disruptions of the FOXP2 gene cause a speech and language disorder involving difficulties in sequencing orofacial movements. FOXP2 is expressed in cortico-striatal and cortico-cerebellar circuits important for fine motor skills, and affected individuals show abnormalities in these brain regions. We selectively disrupted Foxp2 in the cerebellar Purkinje cells, striatum or cortex of mice and assessed the effects on skilled motor behaviour using an operant lever-pressing task. Foxp2 loss in each region impacted behaviour differently, with striatal and Purkinje cell disruptions affecting the variability and the speed of lever-press sequences, respectively. Mice lacking Foxp2 in Purkinje cells showed a prominent phenotype involving slowed lever pressing as well as deficits in skilled locomotion. In vivo recordings from Purkinje cells uncovered an increased simple spike firing rate and decreased modulation of firing during limb movements. This was caused by increased intrinsic excitability rather than changes in excitatory or inhibitory inputs. Our findings show that Foxp2 can modulate different aspects of motor behaviour in distinct brain regions, and uncover an unknown role for Foxp2 in the modulation of Purkinje cell activity that severely impacts skilled movements.

Abstract

Achieving linguistic proficiency requires identifying words from speech, and discovering the constraints that govern the way those words are used. In a recent study of non-adjacent dependency learning, Frost and Monaghan (2016) demonstrated that learners may perform these tasks together, using similar statistical processes - contrary to prior suggestions. However, in their study, non-adjacent dependencies were marked by phonological cues (plosive-continuant-plosive structure), which may have influenced learning. Here, we test the necessity of these cues by comparing learning across three conditions; fixed phonology, which contains these cues, varied phonology, which omits them, and shapes, which uses visual shape sequences to assess the generality of statistical processing for these tasks. Participants segmented the sequences and generalized the structure in both auditory conditions, but learning was best when phonological cues were present. Learning was around chance on both tasks for the visual shapes group, indicating statistical processing may critically differ across domains.

Abstract

High frequency words have been suggested to benefit both speech segmentation and grammatical categorization of the words around them. Despite utilizing similar information, these tasks are usually investigated separately in studies examining learning. We determined whether including high frequency words in continuous speech could support categorization when words are being segmented for the first time. We familiarized learners with continuous artificial speech comprising repetitions of target words, which were preceded by high-frequency marker words. Crucially, marker words distinguished targets into 2 distributionally defined categories. We measured learning with segmentation and categorization tests and compared performance against a control group that heard the artificial speech without these marker words (i.e., just the targets, with no cues for categorization). Participants segmented the target words from speech in both conditions, but critically when the marker words were present, they influenced acquisition of word-referent mappings in a subsequent transfer task, with participants demonstrating better early learning for mappings that were consistent (rather than inconsistent) with the distributional categories. We propose that high-frequency words may assist early grammatical categorization, while speech segmentation is still being learned.

Abstract

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

Abstract

Several studies report an association between REM Sleep Behavior Disorder (RBD) and neurodegenerative diseases, in particular synucleinopathies. Interestingly, the onset of RBD precedes the development of neurodegeneration by several years. This review and meta-analysis aims to establish the rate of conversion of RBD into neurodegenerative diseases. Longitudinal studies were searched from the PubMed, Web of Science, and SCOPUS databases. Using random-effect modeling, we performed a meta-analysis on the rate of RBD conversions into neurodegeneration. Furthermore, we fitted a Kaplan-Meier analysis and compared the differences between survival curves of different diseases with log-rank tests. The risk for developing neurodegenerative diseases was 33.5% at five years follow-up, 82.4% at 10.5 years and 96.6% at 14 years. The average conversion rate was 31.95% after a mean duration of follow-up of 4.75 ± 2.43 years. The majority of RBD patients converted to Parkinson's Disease (43%), followed by Dementia with Lewy Bodies (25%). The estimated risk for RBD patients to develop a neurodegenerative disease over a long-term follow-up is more than 90%. Future studies should include control group for the evaluation of REM sleep without atonia as marker for neurodegeneration also in non-clinical population and target RBD as precursor of neurodegeneration to develop protective trials.

Abstract

Large-scale graph data in real-world applications is often not static but dynamic,
i. e., new nodes and edges appear over time. Current graph convolution approaches
are promising, especially, when all the graph’s nodes and edges are available dur-
ing training. When unseen nodes and edges are inserted after training, it is not
yet evaluated whether up-training or re-training from scratch is preferable. We
construct an experimental setup, in which we insert previously unseen nodes and
edges after training and conduct a limited amount of inference epochs. In this
setup, we compare adapting pretrained graph neural networks against retraining
from scratch. Our results show that pretrained models yield high accuracy scores
on the unseen nodes and that pretraining is preferable over retraining from scratch.
Our experiments represent a first step to evaluate and develop truly online variants
of graph neural networks.