Publications

Abstract

Children acquire language embedded within the rich social context of interaction. This paper reports on a longitudinal study investigating the developmental relationship between conversational turn‐taking and vocabulary growth in English‐acquiring children (N = 122) followed between 9 and 24 months. Daylong audio recordings obtained every 3 months provided several indices of the language environment, including the number of adult words children heard in their environment and their number of conversational turns. Vocabulary was measured independently via parental report. Growth curve analyses revealed a bidirectional relationship between conversational turns and vocabulary growth, controlling for the amount of words in children’s environments. The results are consistent with theoretical approaches that identify social interaction as a core component of early language acquisition.

Abstract

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

Abstract

How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require abstract representations of stimulus properties and relations. How we acquire such representations has central importance in an account of human cognition. We briefly describe a theory of how a system can learn invariant responses to instances of similarity and relative magnitude, and how structured, relational representations can be learned from initially unstructured inputs. Two operations, comparing distributed representations and learning from the concomitant network dynamics in time, underpin the ability to learn these representations and to respond to invariance in the environment. Comparing analog representations of absolute magnitude produces invariant signals that carry information about similarity and relative magnitude. We describe how a system can then use this information to bootstrap learning structured (i.e., symbolic) concepts of relative magnitude from experience without assuming such representations a priori.

Abstract

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

Abstract

Double verb constructions known as hendiadys have been studied primarily in literary texts and corpora of written language. Much less is known about their properties and usage in spoken language, where expressions such as ‘come and see’, ‘go and tell’, ‘sit and talk’ are particularly common, and where we can find an even richer diversity of other constructions. In this study, we investigate hendiadys in corpora of naturally occurring social interactions in four languages, Danish, English (US and UK), Finnish and Italian, with the objective of exploring whether hendiadys is used systematically in recurrent interactional and sequential circumstances, from which it is possible to identify the pragmatic function(s) that hendiadys may serve. Examining hendiadys in conversation also offers us a special window into its grammatical properties, for example when a speaker self-corrects from a non-hendiadic to a hendiadic expression, exposing the boundary between related grammatical forms and demonstrating the distinctiveness of hendiadys in context. More broadly, we demonstrate that hendiadys is systematically associated with talk about complainable matters, in environments characterised by a conflict, dissonance, or friction that is ongoing in the interaction or that is being reported by one participant to another. We also find that the utterance in which hendiadys is used is typically in a subsequent and possibly terminal position in the sequence, summarising or concluding it. Another key finding is that the complainable or conflictual element in these interactions is expressed primarily by the first conjunct of the hendiadic construction. Whilst the first conjunct is semantically subsidiary to the second, it is pragmatically the most important one. This analysis leads us to revisit a long-established asymmetry between the verbal components of hendiadys, and to bring to light the synergy of grammar and pragmatics in language usage.

Abstract

During communication in real-life settings, the brain integrates information from auditory and visual modalities to form a unified percept of our environment. In the current magnetoencephalography (MEG) study, we used rapid invisible frequency tagging (RIFT) to generate steady-state evoked fields and investigated the integration of audiovisual information in a semantic context. We presented participants with videos of an actress uttering action verbs (auditory; tagged at 61 Hz) accompanied by a gesture (visual; tagged at 68 Hz, using a projector with a 1440 Hz refresh rate). Integration ease was manipulated by auditory factors (clear/degraded speech) and visual factors (congruent/incongruent gesture). We identified MEG spectral peaks at the individual (61/68 Hz) tagging frequencies. We furthermore observed a peak at the intermodulation frequency of the auditory and visually tagged signals (fvisual – fauditory = 7 Hz), specifically when integration was easiest (i.e., when speech was clear and accompanied by a congruent gesture). This intermodulation peak is a signature of nonlinear audiovisual integration, and was strongest in left inferior frontal gyrus and left temporal regions; areas known to be involved in speech-gesture integration. The enhanced power at the intermodulation frequency thus reflects the ease of integration and demonstrates that speech-gesture information interacts in higher-order language areas. Furthermore, we provide a proof-of-principle of the use of RIFT to study the integration of audiovisual stimuli, in relation to, for instance, semantic context.

Abstract

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

Abstract

This paper presents a study of the spontaneous pre-sentential negations
of ten English-speaking children between the ages of 1; 6 and 3; 4 which
supports the hypothesis that child English nonanaphoric pre-sentential
negation is a form of metalinguistic exclamatory sentence negation. A
detailed discourse analysis reveals that children's pre-sentential negatives
like No Nathaniel a king (i) are characteristically echoic, and (it)
typically express objection and rectification, two characteristic functions
of exclamatory negation in adult discourse, e.g. Don't say 'Nathaniel's a
king'! A comparison of children's pre-sentential negations with their
internal predicate negations using not and don't reveals that the two
negative constructions are formally and functionally distinct. I argue
that children's nonanaphoric pre-sentential negatives constitute an
independent, well-formed class of discourse negation. They are not
'primitive' constructions derived from the miscategorization of emphatic
no in adult speech or children's 'inventions'. Nor are they an
early derivational variant of internal sentence negation. Rather, these
negatives reflect young children's competence in using grammatical
negative constructions appropriately in discourse.

Abstract

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

Abstract

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

Abstract

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

Rhythmic neural activity synchronizes with certain rhythmic behaviors, such as breathing, sniffing, saccades, and speech. The extent to which neural oscillations synchronize with higher-level and more complex behaviors is largely unknown. Here we investigated electrophysiological synchronization with keyboard typing, which is an omnipresent behavior daily engaged by an uncountably large number of people. Keyboard typing is rhythmic with frequency characteristics roughly the same as neural oscillatory dynamics associated with cognitive control, notably through midfrontal theta (4 -7 Hz) oscillations. We tested the hypothesis that synchronization occurs between typing and midfrontal theta, and breaks down when errors are committed. Thirty healthy participants typed words and sentences on a keyboard without visual feedback, while EEG was recorded. Typing rhythmicity was investigated by inter-keystroke interval analyses and by a kernel density estimation method. We used a multivariate spatial filtering technique to investigate frequency-specific synchronization between typing and neuronal oscillations. Our results demonstrate theta rhythmicity in typing (around 6.5 Hz) through the two different behavioral analyses. Synchronization between typing and neuronal oscillations occurred at frequencies ranging from 4 to 15 Hz, but to a larger extent for lower frequencies. However, peak synchronization frequency was idiosyncratic across subjects, therefore not specific to theta nor to midfrontal regions, and correlated somewhat with peak typing frequency. Errors and trials associated with stronger cognitive control were not associated with changes in synchronization at any frequency. As a whole, this study shows that brain-behavior synchronization does occur during keyboard typing but is not specific to midfrontal theta.

Abstract

By the end of their first year, infants can interpret many different types of complex dynamic visual events, such as caused-motion, chasing, and goal-directed action. Infants of this age are also in the early stages of vocabulary development, producing their first words at around 12 months. The present work examined whether there are meaningful individual differences in infants’ ability to represent dynamic causal events in visual scenes, and whether these differences influence vocabulary development. As part of the longitudinal Language 0–5 Project, 78 10-month-old infants were tested on their ability to interpret three dynamic motion events, involving (a) caused-motion, (b) chasing behaviour, and (c) goal-directed movement. Planned analyses found that infants showed evidence of understanding the first two event types, but not the third. Looking behaviour in each task was not meaningfully related to vocabulary development, nor were there any correlations between the tasks. The results of additional exploratory analyses and simulations suggested that the infants’ understanding of each event may not be predictive of their vocabulary development, and that looking times in these tasks may not be reliably capturing any meaningful individual differences in their knowledge. This raises questions about how to convert experimental group designs to individual differences measures, and how to interpret infant looking time behaviour.

Abstract

This article explores the relationship between low- and high-level aspects of reading by studying the interplay between word processing, as measured with eye tracking, and narrative absorption and liking, as measured with questionnaires. Specifically, we focused on how individual differences in sensitivity to lexical word characteristics—measured as the effect of these characteristics on gaze duration—were related to narrative absorption and liking. By reanalyzing a large data set consisting of three previous eye-tracking experiments in which subjects (N = 171) read literary short stories, we replicated the well-established finding that word length, lemma frequency, position in sentence, age of acquisition, and orthographic neighborhood size of words influenced gaze duration. More importantly, we found that individual differences in the degree of sensitivity to three of these word characteristics, i.e., word length, lemma frequency, and age of acquisition, were negatively related to print exposure and to a lesser degree to narrative absorption and liking. Even though the underlying mechanisms of this relationship are still unclear, we believe the current findings underline the need to map out the interplay between, on the one hand, the technical and, on the other hand, the subjective processes of reading by studying reading behavior in more natural settings.

Abstract

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

Abstract

Although various studies have shown that narrative reading draws on social-cognitive abilities, not much is known about the precise aspects of narrative processing that engage these abilities. We hypothesized that the linguistic processing of narrative viewpoint—expressed by elements that provide access to the inner world of characters—might play an important role in engaging social-cognitive abilities. Using eye tracking, we studied the effect of lexical markers of perceptual, cognitive, and emotional viewpoint on eye movements during reading of a 5,000-word narrative. Next, we investigated how this relationship was modulated by individual differences in social-cognitive abilities. Our results show diverging patterns of eye movements for perceptual viewpoint markers on the one hand, and cognitive and emotional viewpoint markers on the other. Whereas the former are processed relatively fast compared to non-viewpoint markers, the latter are processed relatively slow. Moreover, we found that social-cognitive abilities impacted the processing of words in general, and of perceptual and cognitive viewpoint markers in particular, such that both perspective-taking abilities and self-reported perspective-taking traits facilitated the processing of these markers. All in all, our study extends earlier findings that social cognition is of importance for story reading, showing that individual differences in social-cognitive abilities are related to the linguistic processing of narrative viewpoint.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

Abstract

Investigation of the emotions entails reference to words and expressions conventionally used for the description of emotion experience. Important methodological issues arise for emotion researchers, and the issues are of similarly central concern in linguistic semantics more generally. I argue that superficial and/or inconsistent description of linguistic meaning can have seriously misleading results. This paper is firstly a critique of standards in emotion research for its tendency to underrate and ill-understand linguistic semantics. It is secondly a critique of standards in some approaches to linguistic semantics itself. Two major problems occur. The first is failure to distinguish between conceptually distinct meanings of single words, neglecting the well-established fact that a single phonological string can signify more than one conceptual category (i.e., that words can be polysemous). The second error involves failure to distinguish between two kinds of secondary uses of words: (1) those which are truly active “online” extensions, and (2) those which are conventionalised secondary meanings and not active (qua “extensions”) at all. These semantic considerations are crucial to conclusions one may draw about cognition and conceptualisation based on linguistic evidence.

Abstract

This article argues that it is not possible to establish distinctions between 'Lao', 'Thai', and 'Isan' as seperate languages or dialects by appealing to objective criteria. 'Lao', 'Thai', and 'Isan' are conceived linguistics varieties, and the ground-level reality reveals a great deal of variation, much of it not coinciding with the geographical boundaries of the 'Laos', 'Isan', and 'non-Isan Thailand' areas. Those who promote 'Lao', 'Thai', and/or 'Isan' as distinct linguistic varieties have subjective (e.g. political and/or sentimental) reasons for doing so. Objective linguistic criteria are not sufficient

Abstract

Anthropologists and linguists have long been aware that the body is explicitly referred to in conventional description of emotion in languages around the world. There is abundant linguistic data showing expression of emotions in terms of their imagined ‘locus’ in the physical body. The most important methodological issue in the study of emotions is language, for the ways people talk give us access to ‘folk descriptions’ of the emotions. ‘Technical terminology’, whether based on English or otherwise, is not excluded from this ‘folk’ status. It may appear to be safely ‘scientific’ and thus culturally neutral, but in fact it is not: technical English is a variety of English and reflects, to some extent, culture-specific ways of thinking (and categorising) associated with the English language. People — as researchers studying other people, or as people in real-life social association — cannot directly access the emotional experience of others, and language is the usual mode of ‘packaging’ one’s experience so it may be accessible to others. Careful description of linguistic data from as broad as possible a cross-linguistic base is thus an important part of emotion research. All people experience biological events and processes associated with certain thoughts (or, as psychologists say, ‘appraisals’), but there is more to ‘emotion’ than just these physiological phenomena. Speakers of some languages talk about their emotional experiences as if they are located in some internal organ such as ‘the liver’, yet they cannot localise feeling in this physical organ. This phenomenon needs to be understood better, and one of the problems is finding a method of comparison that allows us to compare descriptions from different languages which show apparently great formal and semantic variation. Some simple concepts including feel and body are universal or near-universal, and as such are good candidates for terms of description which may help to eradicate confusion and exoticism from cross-linguistic comparison and semantic typology. Semantic analysis reveals great variation in concepts of emotion across languages and cultures — but such analysis requires a sound and well-founded methodology. While leaving room for different approaches to the task, we suggest that such a methodology can be based on empirically established linguistic universal (or near-universal) concepts, and on ‘cognitive scenarios’ articulated in terms of these concepts. Also, we warn against the danger of exoticism involved in taking all body part references ‘literally’. Above all, we argue that what is needed is a combination of empirical cross-linguistic investigations and a theoretical and methodological awareness, recognising the impossibility of exploring other people’s emotions without keeping language in focus: both as an object and as a tool of study.

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

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

Abstract

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

Abstract

This article addresses the recognition of reduced word forms, which are frequent in casual speech. We describe two experiments on Dutch showing that listeners only recognize highly reduced forms well when these forms are presented in their full context and that the probability that a listener recognizes a word form in limited context is strongly correlated with the degree of reduction of the form. Moreover, we show that the effect of degree of reduction can only partly be interpreted as the effect of the intelligibility of the acoustic signal, which is negatively correlated with degree of reduction. We discuss the consequences of our findings for models of spoken word recognition and especially for the role that storage plays in these models.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Some theorists posit the existence of a ‘core’ grammar that virtually all native speakers acquire, and a ‘peripheral’ grammar that many do not. We investigated the viability of such a categorical distinction in the Dutch language. We first consulted linguists’ intuitions as to the ‘core’ or ‘peripheral’ status of a wide range of grammatical structures. We then tested a selection of core- and peripheral-rated structures on naïve participants with varying levels of literacy experience, using grammaticality judgment as a proxy for receptive knowledge. Overall, participants demonstrated better knowledge of ‘core’ structures than ‘peripheral’ structures, but the considerable variability within these categories was strongly suggestive of a continuum rather than a categorical distinction between them. We also hypothesised that individual differences in the knowledge of core and peripheral structures would reflect participants’ literacy experience. This was supported only by a small trend in our data. The results fit best with the notion that more frequent syntactic structures are mastered by more people than infrequent ones and challenge the received sense of a categorical core-periphery distinction.

Abstract

Language comprehenders can use syntactic cues to generate predictions online about upcoming language. Previous research with reading-impaired adults and healthy, low-proficiency adult and child learners suggests that reading skills are related to prediction in spoken language comprehension. Here we investigated whether differences in literacy are also related to predictive spoken language processing in non-reading-impaired proficient adult readers with varying levels of literacy experience. Using the visual world paradigm enabled us to measure prediction based on syntactic cues in the spoken sentence, prior to the (predicted) target word. Literacy experience was found to be the strongest predictor of target anticipation, independent of general cognitive abilities. These findings suggest that a) experience with written language can enhance syntactic prediction of spoken language in normal adult language users, and b) processing skills can be transferred to related tasks (from reading to listening) if the domains involve similar processes (e.g., predictive dependencies) and representations (e.g., syntactic).

Abstract

‘Book language’ offers a richer linguistic experience than typical conversational speech in terms of its syntactic properties. Here, we investigated the role of long-term syntactic experience on syntactic knowledge and processing. In a pre-registered study with 161 adult native Dutch speakers with varying levels of literacy, we assessed the contribution of individual differences in written language experience to offline and online syntactic processes. Offline syntactic knowledge was assessed as accuracy in an auditory grammaticality judgment task in which we tested violations of four Dutch grammatical norms. Online syntactic processing was indexed by syntactic priming of the Dutch dative alternation, using a comprehension-to-production priming paradigm with auditory presentation. Controlling for the contribution of non-verbal IQ, verbal working memory, and processing speed, we observed a robust effect of literacy experience on the detection of grammatical norm violations in spoken sentences, suggesting that exposure to the syntactic complexity and diversity of written language has specific benefits for general (modality-independent) syntactic knowledge. We replicated previous results by finding robust comprehension-to-production structural priming, both with and without lexical overlap between prime and target. Although literacy experience affected the usage of syntactic alternates in our large sample, it did not modulate their priming. We conclude that amount of experience with written language increases explicit awareness of grammatical norm violations and changes the usage of (PO vs. DO) dative spoken sentences but has no detectable effect on their implicit syntactic priming in proficient language users. These findings constrain theories about the effect of long-term experience on syntactic processing.

Abstract

Strong and weak syllables in English can be distinguished on the basis of vowel quality, of stress, or of both factors. Critical for deciding between these factors are syllables containing unstressed unreduced vowels, such as the first syllable of automata. In this study 12 speakers produced sentences containing matched sets of words with initial vowels ranging from stressed to reduced, at normal and at fast speech rates. Measurements of the duration, intensity, F0, and spectral characteristics of the word-initial vowels showed that unstressed unreduced vowels differed significantly from both stressed and reduced vowels. This result held true across speaker sex and dialect. The vowels produced by one speaker were then cross-spliced across the words within each set, and the resulting words' acceptability was rated by listeners. In general, cross-spliced words were only rated significantly less acceptable than unspliced words when reduced vowels interchanged with any other vowel. Correlations between rated acceptability and acoustic characteristics of the cross-spliced words demonstrated that listeners were attending to duration, intensity, and spectral characteristics. Together these results suggest that unstressed unreduced vowels in English pattern differently from both stressed and reduced vowels, so that no acoustic support for a binary categorical distinction exists; nevertheless, listeners make such a distinction, grouping unstressed unreduced vowels by preference with stressed vowels

Abstract

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

Abstract

Perceptual learning of novel accents is a critical skill for second-language speech perception, but little is known about the mechanisms that facilitate perceptual learning in communicative contexts. To study perceptual learning in an interactive dialogue setting while maintaining experimental control of the phonetic input, we employed an innovative experimental method incorporating prerecorded speech into a naturalistic conversation. Using both computer-based and face-to-face dialogue settings, we investigated the effect of two types of learning mechanisms in interaction: explicit corrective feedback and implicit lexical guidance. Dutch participants played an information-gap game featuring minimal pairs with an accented English speaker whose /ε/ pronunciations were shifted to /ɪ/. Evidence for the vowel shift came either from corrective feedback about participants’ perceptual mistakes or from onscreen lexical information that constrained their interpretation of the interlocutor’s words. Corrective feedback explicitly contrasting the minimal pairs was more effective than generic feedback. Additionally, both receiving lexical guidance and exhibiting more uptake for the vowel shift improved listeners’ subsequent online processing of accented words. Comparable learning effects were found in both the computer-based and face-to-face interactions, showing that our results can be generalized to a more naturalistic learning context than traditional computer-based perception training programs.

Abstract

Learning a script with mirrored graphs (e.g., d ≠ b) requires overcoming the evolutionary-old perceptual tendency to process mirror images as equivalent. Thus, breaking mirror invariance offers an important tool for understanding cultural re-shaping of evolutionarily ancient cognitive mechanisms. Here we investigated the role of script (i.e., presence vs. absence of mirrored graphs: Latin alphabet vs. Tamil) by revisiting mirror-image processing by illiterate, Tamil monoliterate, and Tamil-Latin-alphabet bi-literate adults. Participants performed two same-different tasks (one orientation-based, another shape-based) on Latin-alphabet letters. Tamil monoliterate were significantly better than illiterate and showed good explicit mirror-image discrimination. However, only bi-literate adults fully broke mirror invariance: slower shape-based judgments for mirrored than identical pairs and reduced disadvantage in orientation-based over shape-based judgments of mirrored pairs. These findings suggest learning a script with mirrored graphs is the strongest force for breaking mirror invariance.

Abstract

To form a percept of the multisensory world, the brain needs to integrate signals from common sources weighted by their reliabilities and segregate those from independent sources. Previously, we have shown that anterior parietal cortices combine sensory signals into representations that take into account the signals’ causal structure (i.e., common versus independent sources) and their sensory reliabilities as predicted by Bayesian causal inference. The current study asks to what extent and how attentional mechanisms can actively control how sensory signals are combined for perceptual inference. In a pre- and postcueing paradigm, we presented observers with audiovisual signals at variable spatial disparities. Observers were precued to attend to auditory or visual modalities prior to stimulus presentation and postcued to report their perceived auditory or visual location. Combining psychophysics, functional magnetic resonance imaging (fMRI), and Bayesian modelling, we demonstrate that the brain moulds multisensory inference via two distinct mechanisms. Prestimulus attention to vision enhances the reliability and influence of visual inputs on spatial representations in visual and posterior parietal cortices. Poststimulus report determines how parietal cortices flexibly combine sensory estimates into spatial representations consistent with Bayesian causal inference. Our results show that distinct neural mechanisms control how signals are combined for perceptual inference at different levels of the cortical hierarchy.

Abstract

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

Abstract

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

Abstract

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

Abstract

Dance is ubiquitous among humans and has received attention from several disciplines. Ethnographic documentation suggests that dance has a signaling function in social interaction. It can influence mate preferences and facilitate social bonds. Research has provided insights into the proximate mechanisms of dance, individually or when dancing with partners or in groups. Here, we review dance research from an evolutionary perspective. We propose that human dance evolved from ordinary (non-communicative) movements to communicate socially relevant information accurately. The need for accurate social signaling may have accompanied increases in group size and population density. Because of its complexity in production and display, dance may have evolved as a vehicle for expressing social and cultural information. Mating-related qualities and motives may have been the predominant information derived from individual dance movements, whereas group dance offers the opportunity for the exchange of socially relevant content, for coordinating actions among group members, for signaling coalitional strength, and for stabilizing group structures. We conclude that, despite the cultural diversity in dance movements and contexts, the primary communicative functions of dance may be the same across societies.

Abstract

Determining when a partner’s spoken or musical turn will end requires well-honed predictive abilities. Evidence suggests that our motor systems are activated during perception of both speech and music, and it has been argued that motor simulation is used to predict turn-ends across domains. Here we used a dual-task interference paradigm to investigate whether motor simulation of our partner’s action underlies our ability to make accurate turn-end predictions in speech and in music. Furthermore, we explored how specific this simulation is to the action being predicted. We conducted two experiments, one investigating speech turn-ends, and one investigating music turn-ends. In each, 34 proficient pianists predicted turn-endings while (1) passively listening, (2) producing an effector-specific motor activity (mouth/hand movement), or (3) producing a task- and effector-specific motor activity (mouthing words/fingering a piano melody). In the speech experiment, any movement during speech perception disrupted predictions of spoken turn-ends, whether the movement was task-specific or not. In the music experiment, only task-specific movement (i.e., fingering a piano melody) disrupted predictions of musical turn-ends. These findings support the use of motor simulation to make turn-end predictions in both speech and music but suggest that the specificity of this simulation may differ between domains.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.

Abstract

We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.

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

Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.

Abstract

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.

Abstract

Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established that dyslexia is a significantly heritable trait with a neurobiological basis. The etiological mechanisms remain elusive, however, despite being the focus of intensive multidisciplinary research. All attempts to map quantitative-trait loci (QTLs) influencing dyslexia susceptibility have targeted specific chromosomal regions, so that inferences regarding genetic etiology have been made on the basis of very limited information. Here we present the first two complete QTL-based genome-wide scans for this trait, in large samples of families from the United Kingdom and United States. Using single-point analysis, linkage to marker D18S53 was independently identified as being one of the most significant results of the genome in each scan (P< or =0.0004 for single word-reading ability in each family sample). Multipoint analysis gave increased evidence of 18p11.2 linkage for single-word reading, yielding top empirical P values of 0.00001 (UK) and 0.0004 (US). Measures related to phonological and orthographic processing also showed linkage at this locus. We replicated linkage to 18p11.2 in a third independent sample of families (from the UK), in which the strongest evidence came from a phoneme-awareness measure (most significant P value=0.00004). A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This is the first report of QTL-based genome-wide scanning for a human cognitive trait.

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

Embodied song practices involve the transformation of songs from the acoustic modality into an embodied-visual form, to increase meaningful access for d/Deaf audiences. This goes beyond the translation of lyrics, by combining poetic sign language with other bodily movements to embody the para-linguistic expressive and musical features that enhance the message of a song. To date, the limited research into this phenomenon has focussed on linguistic features and interactions with rhythm. The relationship between bodily actions and music has not been probed beyond an assumed implication of conformance. However, as the primary objective is to communicate equivalent meanings, the ways that the acoustic and embodied-visual signals relate to each other should reveal something about underlying conceptual agreement. This paper draws together a range of pertinent theories from within a grounded cognition framework including semiotics, analogy mapping and cross-modal correspondences. These theories are applied to embodiment strategies used by prominent d/Deaf and hearing Dutch practitioners, to unpack the relationship between acoustic songs, their embodied representations, and their broader conceptual and affective meanings. This leads to the proposition that meaning primarily arises through shared patterns of internal relations across a range of amodal and cross-modal features with an emphasis on dynamic qualities. These analogous patterns can inform metaphorical interpretations and trigger shared emotional responses. This exploratory survey offers insights into the nature of cross-modal and embodied meaning-making, as a jumping-off point for further research.

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

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

Abstract

Language perception studies on bilinguals often show that words that share form and meaning across languages (cognates) are easier to process than words that share only meaning. This facilitatory phenomenon is known as the cognate effect. Most previous studies have shown this effect visually, whereas the auditory modality as well as the interplay between type of similarity and modality remain largely unexplored. In this study, highly proficient late Spanish–English bilinguals carried out a lexical decision task in their second language, both visually and auditorily. Words had high or low phonological and orthographic similarity, fully crossed. We also included orthographically identical words (perfect cognates). Our results suggest that similarity in the same modality (i.e., orthographic similarity in the visual modality and phonological similarity in the auditory modality) leads to improved signal detection, whereas similarity across modalities hinders it. We provide support for the idea that perfect cognates are a special category within cognates. Results suggest a need for a conceptual and practical separation between types of similarity in cognate studies. The theoretical implication is that the representations of items are active in both modalities of the non-target language during language processing, which needs to be incorporated to our current processing models.

Abstract

Language perception studies on bilinguals often show that words that share form and meaning across
languages (cognates) are easier to process than words that share only meaning. This facilitatory
phenomenon is known as the cognate effect. Most previous studies have shown this effect visually,
whereas the auditory modality as well as the interplay between type of similarity and modality
remain largely unexplored. In this study, highly proficient late Spanish–English bilinguals carried out
a lexical decision task in their second language, both visually and auditorily. Words had high or low
phonological and orthographic similarity, fully crossed. We also included orthographically identical
words (perfect cognates). Our results suggest that similarity in the same modality (i.e., orthographic
similarity in the visual modality and phonological similarity in the auditory modality) leads to
improved signal detection, whereas similarity across modalities hinders it. We provide support for
the idea that perfect cognates are a special category within cognates. Results suggest a need for a
conceptual and practical separation between types of similarity in cognate studies. The theoretical
implication is that the representations of items are active in both modalities of the non‑target
language during language processing, which needs to be incorporated to our current processing
models.

Abstract

Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.

Abstract

A locus on chromosome 2p12-16 has been implicated in dyslexia susceptibility by two independent linkage studies, including our own study of 119 nuclear twin-based families, each with at least one reading-disabled child. Nonetheless, no variant of any gene has been reported to show association with dyslexia, and no consistent clinical evidence exists to identify candidate genes with any strong a priori logic. We used 21 microsatellite markers spanning 2p12-16 to refine our 1-LOD unit linkage support interval to 12cM between D2S337 and D2S286. Then, in quantitative association analysis, two microsatellites yielded P values<0.05 across a range of reading-related measures (D2S2378 and D2S2114). The exon/intron borders of two positional candidate genes within the region were characterized, and the exons were screened for polymorphisms. The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development. Two non-synonymous single nucleotide polymorphisms were found in SEMA4F, each with a heterozygosity of 0.03. One intronic single nucleotide polymorphism between exons 12 and 13 of SEMA4F was tested for quantitative association, but no significant association was found. Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent. Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics.

Abstract

Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.

Abstract

Theeffects of spatial filtering in functional magnetic resonance imaging were investigated by reevaluating the data of a previous study of episodic memory encoding at 2 × 2 × 4-mm3 resolution with use of a SPM99 analysis involving a Gaussian kernel of 8-mm full width at half maximum. In addition, a multisubject analysis of activated regions was performed by normalizing the functional images to an approximate Talairach brain atlas. In individual subjects, spatial filtering merged activations in anatomically separated brain regions. Moreover, small foci of activated pixels which originated from veins became blurred and hence indistinguishable from parenchymal responses. The multisubject analysis resulted in activation of the hippocampus proper, a finding which could not be confirmed by the activation maps obtained at high resolution. It is concluded that the validity of multisubject fMRI analyses can be considerably improved by first analyzing individual data sets at optimum resolution to assess the effects of spatial filtering and minimize the risk of signal contamination by macroscopically visible vessels.

Abstract

Evolution, as we currently understand it, strikes a delicate balance between animals' ancestral history and adaptations to their current niche. Similarities between species are generally considered inherited from a common ancestor whereas observed differences are considered as more recent evolution. Hence comparing species can provide insights into the evolutionary history. Comparative neuroimaging has recently emerged as a novel subdiscipline, which uses magnetic resonance imaging (MRI) to identify similarities and differences in brain structure and function across species. Whereas invasive histological and molecular techniques are superior in spatial resolution, they are laborious, post-mortem, and oftentimes limited to specific species. Neuroimaging, by comparison, has the advantages of being applicable across species and allows for fast, whole-brain, repeatable, and multi-modal measurements of the structure and function in living brains and post-mortem tissue. In this review, we summarise the current state of the art in comparative anatomy and function of the brain and gather together the main scientific questions to be explored in the future of the fascinating new field of brain evolution derived from comparative neuroimaging.

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

Lifelong graph learning deals with the problem of continually adapting graph neural network (GNN) models to changes in evolving graphs. We address two critical challenges of lifelong graph learning in this work: dealing with new classes and tackling imbalanced class distributions. The combination of these two challenges is particularly relevant since newly emerging classes typically resemble only a tiny fraction of the data, adding to the already skewed class distribution. We make several contributions: First, we show that the amount of unlabeled data does not influence the results, which is an essential prerequisite for lifelong learning on a sequence of tasks. Second, we experiment with different label rates and show that our methods can perform well with only a tiny fraction of annotated nodes. Third, we propose the gDOC method to detect new classes under the constraint of having an imbalanced class distribution. The critical ingredient is a weighted binary cross-entropy loss function to account for the class imbalance. Moreover, we demonstrate combinations of gDOC with various base GNN models such as GraphSAGE, Simplified Graph Convolution, and Graph Attention Networks. Lastly, our k-neighborhood time difference measure provably normalizes the temporal changes across different graph datasets. With extensive experimentation, we find that the proposed gDOC method is consistently better than a naive adaption of DOC to graphs. Specifically, in experiments using the smallest history size, the out-of-distribution detection score of gDOC is 0.09 compared to 0.01 for DOC. Furthermore, gDOC achieves an Open-F1 score, a combined measure of in-distribution classification and out-of-distribution detection, of 0.33 compared to 0.25 of DOC (32% increase).

Abstract

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

Abstract

Children must necessarily process their input in order to learn it, yet the architecture of the developing parsing system and how it interfaces with acquisition is unclear. In the current paper we report experimental and corpus data investigating adult and children's use of morphosyntactic cues for making incremental online predictions of thematic roles in Tagalog, a verb-initial symmetrical voice language of the Philippines. In Study 1, Tagalog-speaking adults completed a visual world eye-tracking experiment in which they viewed pictures of causative actions that were described by transitive sentences manipulated for voice and word order. The pattern of results showed that adults process agent and patient voice differently, predicting the upcoming noun in the patient voice but not in the agent voice, consistent with the observation of a patient voice preference in adult sentence production. In Study 2, our analysis of a corpus of child-directed speech showed that children heard more patient voice- than agent voice-marked verbs. In Study 3, 5-, 7-, and 9-year-old children completed a similar eye-tracking task as used in Study 1. The overall pattern of results suggested that, like the adults in Study 1, children process agent and patient voice differently in a manner that reflects the input distributions, with children developing towards the adult state across early childhood. The results are most consistent with theoretical accounts that identify a key role for input distributions in acquisition and language processing

Abstract

The current research investigated structural priming in Tagalog, a symmetrical voice language containing rich verbal morphology that results in changes in mapping between syntactic positions and thematic roles. This grammatically rare feature, which results in multiple transitive structures that are balanced in terms of the grammatical status of their arguments, provides the opportunity to test whether word order priming is sensitive to the voice morphology of the verb. In three sentence priming experiments (Ns = 64), we manipulated whether the target-verb prompt carried the same voice as the verb in the prime sentence. In all experiments, priming occurred only when the prime and target had the same voice morphology. Additionally, we found that the strength of word order priming depends on voice: stronger priming effects were found for the voice morpheme associated with a more flexible word order. The findings are consistent with learning-based accounts where language-specific representations for syntax emerge across developmental time. We discuss the implications of these results in the context of Tagalog's grammar. The results reveal the value of crosslinguistic data for theory-testing, and the value of structural priming in determining the representational nature of linguistic structure.

Abstract

In the target article, Cristia, Foushee, Aravena-Bravo, Cychosz, Scaff, and Casillas (2022) convincingly show the need to broaden the current language acquisition research base, not only in linguistic diversity, but also in terms of regions and cultural groups studied. In conducting acquisition research in understudied populations, such as in rural settings, the authors highlight the importance of using a multi-method approach. They present the challenges in adapting these methods to new settings and offer possible ways to promote this type of research. In this commentary, we extend the discussion to understudied urban communities, as we encounter several of the concerns raised in Cristia et al. when collecting observational and experimental language acquisition data from Metro Manila, Philippines. We first describe the community we study, the challenges and modifications needed for conducting research in this setting, and end with a discussion of possible strategies to promote research in communities with understudied populations.

Abstract

We present a visual world eye-tracking study on Tseltal (a Mayan language) and investigate whether verbal information can be used to anticipate an upcoming referent. Basic word order in transitive sentences in Tseltal is Verb-Object-Subject (VOS). The verb is usually encountered first, making argument structure and syntactic information available at the outset, which should facilitate anticipation of the post-verbal arguments. Tseltal speakers listened to verb-initial sentences with either an object-predictive verb (e.g., ‘eat’) or a general verb (e.g., ‘look for’) (e.g., “Ya slo’/sle ta stukel on te kereme”, Is eating/is looking (for) by himself the avocado the boy/ “The boy is eating/is looking (for) an avocado by himself”) while seeing a visual display showing one potential referent (e.g., avocado) and three distractors (e.g., bag, toy car, coffee grinder). We manipulated verb type (predictive vs. general) and recorded participants' eye-movements while they listened and inspected the visual scene. Participants’ fixations to the target referent were analysed using multilevel logistic regression models. Shortly after hearing the predictive verb, participants fixated the target object before it was mentioned. In contrast, when the verb was general, fixations to the target only started to increase once the object was heard. Our results suggest that Tseltal hearers pre-activate semantic features of the grammatical object prior to its linguistic expression. This provides evidence from a verb-initial language for online incremental semantic interpretation and anticipatory processing during language comprehension. These processes are comparable to the ones identified in subject-initial languages, which is consistent with the notion that different languages follow similar universal processing principles.

Abstract

Social factors play a crucial role in the advancement of science. New findings are discussed and theories emerge through social interactions, which usually take place within local research groups and at academic events such as conferences, seminars, or workshops. This system tends to amplify the voices of a select subset of the community—especially more established researchers—thus limiting opportunities for the larger community to contribute and connect. Brainhack (https://brainhack.org/) events (or Brainhacks for short) complement these formats in neuroscience with decentralized 2- to 5-day gatherings, in which participants from diverse backgrounds and career stages collaborate and learn from each other in an informal setting. The Brainhack format was introduced in a previous publication (Cameron Craddock et al., 2016; Figures 1A and 1B). It is inspired by the hackathon model (see glossary in Table 1), which originated in software development and has gained traction in science as a way to bring people together for collaborative work and educational courses. Unlike many hackathons, Brainhacks welcome participants from all disciplines and with any level of experience—from those who have never written a line of code to software developers and expert neuroscientists. Brainhacks additionally replace the sometimes-competitive context of traditional hackathons with a purely collaborative one and also feature informal dissemination of ongoing research through unconferences.

Abstract

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

Abstract

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

Abstract

Tropical ecosystems are known for high species diversity. Adaptations permitting niche differentiation enable species to coexist. Historically, research focused primarily on morphological and behavioral adaptations for foraging, roosting, and other basic ecological factors. Another important factor, however, is differences in sensory capabilities. So far, studies mainly have focused on the output of behavioral strategies of predators and their prey preference. Understanding the coexistence of different foraging strategies, however, requires understanding underlying cognitive and neural mechanisms. In this study, we investigate hearing in bats and how it shapes bat species coexistence. We present the hearing thresholds and echolocation calls of 12 different gleaning bats from the ecologically diverse Phyllostomid family. We measured their auditory brainstem responses to assess their hearing sensitivity. The audiograms of these species had similar overall shapes but differed substantially for frequencies below 9 kHz and in the frequency range of their echolocation calls. Our results suggest that differences among bats in hearing abilities contribute to the diversity in foraging strategies of gleaning bats. We argue that differences in auditory sensitivity could be important mechanisms shaping diversity in sensory niches and coexistence of species.

Abstract

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

Abstract

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

Abstract

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

Abstract

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p  < 2.8 × 10−6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p  = 8 × 10−13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10−43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10−4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10−7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.

Abstract

First paragraph: The study of the transmission of sign languages can give novel insights into the transmission of spoken languages1 and, more generally, into gene–culture coevolution. Over the years, several papers related to the persistence of sign language have been
reported.2–6 All of these studies have emphasized the role of assortative (non-random) mating by deafness state (ie, a tendency for deaf individuals to partner together) for increasing the frequency of recessive deafness, and hence for the persistence of sign language in a population.

Abstract

According to the cue-based parsing approach (Lewis, Vasishth, & Van Dyke, 2006), sentence comprehension difficulty derives from interference from material that partially matches syntactic and semantic retrieval cues. In a 2 (low vs. high semantic interference) × 2 (low vs. high syntactic interference) fMRI study, greater activation was observed in left BA44/45 for high versus low syntactic interference conditions following sentences and in left BA45/47 for high versus low semantic interference conditions following comprehension questions. A conjunction analysis showed BA45 associated with both types of interference, while BA47 was associated with only semantic interference. Greater activation was also observed in the left STG in the high interference conditions. Importantly, the results for the LIFG could not be attributed to greater working memory capacity demands for high interference conditions. The results favor a fractionation of the LIFG wherein BA45 is associated with post-retrieval selection and BA47 with controlled retrieval of semantic information.

Abstract

Native listeners make use of higher-level, context-driven semantic and linguistic information during the perception of speech-in-noise. In a recent behavioral study, using a new paradigm that isolated the semantic level of speech by using words, we showed that this native-language benefit is at least partly driven by semantic context (Golestani et al., 2009). Here, we used the same paradigm in a functional magnetic resonance imaging (fMRI) experiment to study the neural bases of speech intelligibility, as well as to study the neural bases of this semantic context effect in the native language. A forced-choice recognition task on the first of two auditorily presented semantically related or unrelated words was employed, where the first, 'target' word was embedded in different noise levels. Results showed that activation in components of the brain language network, including Broca's area and the left posterior superior temporal sulcus, as well as brain regions known to be functionally related to attention and task difficulty, was modulated by stimulus intelligibility. In line with several previous studies examining the role of linguistic context in the intelligibility of degraded speech at the sentence level, we found that activation in the angular gyrus of the left inferior parietal cortex was modulated by the presence of semantic context, and further, that this modulation depended on the intelligibility of the speech stimuli. Our findings help to further elucidate neural mechanisms underlying the interaction of context-driven and signal-driven factors during the perception of degraded speech, and this specifically at the semantic level. (c) 2013 Elsevier Inc. All rights reserved.

Abstract

Schizophrenia is a debilitating psychiatric disorder associated with a reduced fertility and decreased life expectancy, yet common predisposing variation substantially contributes to the onset of the disorder, which poses an evolutionary paradox. Previous research has suggested balanced selection, a mechanism by which schizophrenia risk alleles could also provide advantages under certain environments, as a reliable explanation. However, recent studies have shown strong evidence against a positive selection of predisposing loci. Furthermore, evolutionary pressures on schizophrenia risk alleles could have changed throughout human history as new environments emerged. Here in this study, we used 1000 Genomes Project data to explore the relationship between schizophrenia predisposing loci and recent natural selection (RNS) signatures after the human diaspora out of Africa around 100,000 years ago on a genome-wide scale. We found evidence for significant enrichment of RNS markers in derived alleles arisen during human evolution conferring protection to schizophrenia. Moreover, both partitioned heritability and gene set enrichment analyses of mapped genes from schizophrenia predisposing loci subject to RNS revealed a lower involvement in brain and neuronal related functions compared to those not subject to RNS. Taken together, our results suggest non-antagonistic pleiotropy as a likely mechanism behind RNS that could explain the persistence of schizophrenia common predisposing variation in human populations due to its association to other non-psychiatric phenotypes.

Abstract

The development of rhythmicity is foundational to communicative and social behaviours in humans and many other species, and mechanisms of synchrony could be conserved across species. The goal of the current paper is to explore evolutionary hypotheses linking vocal learning and beat synchronization through genomic approaches, testing the prediction that genetic underpinnings of birdsong also contribute to the aetiology of human interactions with musical beat structure. We combined state-of-the-art-genomic datasets that account for underlying polygenicity of these traits: birdsong genome-wide transcriptomics linked to singing in zebra finches, and a human genome-wide association study of beat synchronization. Results of competitive gene set analysis revealed that the genetic architecture of human beat synchronization is significantly enriched for birdsong genes expressed in songbird Area X (a key nucleus for vocal learning, and homologous to human basal ganglia). These findings complement ethological and neural evidence of the relationship between vocal learning and beat synchronization, supporting a framework of some degree of common genomic substrates underlying rhythm-related behaviours in two clades, humans and songbirds (the largest evolutionary radiation of vocal learners). Future cross-species approaches investigating the genetic underpinnings of beat synchronization in a broad evolutionary context are discussed.

Abstract

Children who have knowledge of two languages may show better phonological awareness than their monolingual peers (e.g. Bruck & Genesee, 1995). It remains unclear how much bilingual experience is needed for such advantages to appear, and whether differences in language or cognitive skills alter the relation between bilingualism and phonological awareness. These questions were investigated in this cross-sectional study. Participants (n = 294; 4–7 year-olds, in the first three grades of primary school) were Dutch-speaking pupils attending mainstream monolingual Dutch primary schools or early-English schools providing English lessons from grade 1, and simultaneous Dutch-English bilinguals. We investigated phonological awareness (rhyming, phoneme blending, onset phoneme identification, and phoneme deletion) and its relation to age, Dutch vocabulary, English vocabulary, working memory and short-term memory, and the balance between Dutch and English vocabulary. Small significant (α < .05) effects of bilingualism were found on onset phoneme identification and phoneme deletion, but post-hoc comparisons revealed no robust pairwise differences between the groups. Furthermore, effects of bilingualism sometimes disappeared when differences in language or memory skills were taken into account. Learning two languages simultaneously is not beneficial to – and importantly, also not detrimental to – phonological awareness.

Abstract

This study investigated to what extent the Peabody Picture Vocabulary Test
(PPVT-4) is a reliable tool for measuring vocabulary knowledge of English as
a second language (L2), and to what extent L1 characteristics affect test
outcomes. The PPVT-4 was administered to Dutch pupils in six different
age groups (4-15 years old) who were or were not following an English
educational programme at school. Our first finding was that the PPVT-4
was not a reliable measure for pupils who were correct on maximally 24
items, but it was reliable for pupils who performed better. Second, both
primary-school and secondary-school pupils performed better on items
for which the phonological similarity between the English word and its
Dutch translation was higher. Third, young unexperienced L2 learners’
scores were predicted by Dutch lexical frequency, while older more
experienced pupils’ scores were predicted by English frequency. These
findings indicate that the PPVT may be inappropriate for use with L2
learners with limited L2 proficiency. Furthermore, comparisons of PPVT
scores across learners with different L1s are confounded by effects of L1
frequency and L1-L2 similarity. The PPVT-4 is however a suitable measure
to compare more proficient L2 learners who have the same L1.

Abstract

Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. In this article, we describe how investigations of these and other candidate genes, in humans, animals and cellular models, are unravelling the connections between genes and cognition. This depends on interdisciplinary research at multiple levels, from determining molecular interactions and functional roles in neural cell-biology all the way through to effects on brain structure and activity.