Publications

Abstract

This study considers the role of verbal working memory in sentence comprehension in typically developing English-speaking children. Fifty-six (N = 56) children aged 4;0–6;6 completed a test of language comprehension that contained sentences which varied in complexity, standardized tests of vocabulary and nonverbal intelligence, and three tests of memory that measured the three verbal components of Baddeley's model of Working Memory (WM): the phonological loop, the episodic buffer, and the central executive. The results showed that children experienced most difficulty comprehending sentences that contained noncanonical word order (passives and object relative clauses). A series of linear mixed effects models were run to analyze the contribution of each component of WM to sentence comprehension. In contrast to most previous studies, the measure of the central executive did not predict comprehension accuracy. A canonicity by episodic buffer interaction showed that the episodic buffer measure was positively associated with better performance on the noncanonical sentences. The results are discussed with reference to capacity-limit and experience-dependent approaches to language comprehension.

Abstract

Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study meta-analysis for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)] (n = 728). The most strongly associated variant, rs7182874 (P = 8.68×10−9), is located in PCSK6, further supporting an association we previously reported. We also confirmed the specificity of this association in individuals with RD; the same locus was not associated with relative hand skill in a general population cohort (n = 2,666). As PCSK6 is known to regulate NODAL in the development of left/right (LR) asymmetry in mice, we developed a novel approach to GWAS pathway analysis, using gene-set enrichment to test for an over-representation of highly associated variants within the orthologs of genes whose disruption in mice yields LR asymmetry phenotypes. Four out of 15 LR asymmetry phenotypes showed an over-representation (FDR≤5%). We replicated three of these phenotypes; situs inversus, heterotaxia, and double outlet right ventricle, in the general population cohort (FDR≤5%). Our findings lead us to propose that handedness is a polygenic trait controlled in part by the molecular mechanisms that establish LR body asymmetry early in development.

Abstract

Multivariate pattern classification methods are increasingly applied to neuroimaging data in the context of both fundamental research and in brain-computer interfacing approaches. Such methods provide a framework for interpreting measurements made at the single-trial level with respect to a set of two or more distinct mental states. Here, we define an approach in which the output of a binary classifier trained on data from an auditory mismatch paradigm can be used for online tracking of perception and as a neurofeedback signal. The auditory mismatch paradigm is known to induce distinct perceptual states related to the presentation of high- and low-probability stimuli, which are reflected in event-related potential (ERP) components such as the mismatch negativity (MMN). The first part of this paper illustrates how pattern classification methods can be applied to data collected in an MMN paradigm, including discussion of the optimization of preprocessing steps, the interpretation of features and how the performance of these methods generalizes across individual participants and measurement sessions. We then go on to show that the output of these decoding methods can be used in online settings as a continuous index of single-trial brain activation underlying perceptual discrimination. We conclude by discussing several potential domains of application, including neurofeedback, cognitive monitoring and passive brain-computer interfaces

Abstract

Brain-computer interfaces (BCIs) are systems that use real-time analysis of neuroimaging data to determine the mental state of their user for purposes such as providing neurofeedback. Here, we investigate the feasibility of a BCI based on speech perception. Multivariate pattern classification methods were applied to single-trial EEG data collected during speech perception by native and non-native speakers. Two principal questions were asked: 1) Can differences in the perceived categories of pairs of phonemes be decoded at the single-trial level? 2) Can these same categorical differences be decoded across participants, within or between native-language groups? Results indicated that classification performance progressively increased with respect to the categorical status (within, boundary or across) of the stimulus contrast, and was also influenced by the native language of individual participants. Classifier performance showed strong relationships with traditional event-related potential measures and behavioral responses. The results of the cross-participant analysis indicated an overall increase in average classifier performance when trained on data from all participants (native and non-native). A second cross-participant classifier trained only on data from native speakers led to an overall improvement in performance for native speakers, but a reduction in performance for non-native speakers. We also found that the native language of a given participant could be decoded on the basis of EEG data with accuracy above 80%. These results indicate that electrophysiological responses underlying speech perception can be decoded at the single-trial level, and that decoding performance systematically reflects graded changes in the responses related to the phonological status of the stimuli. This approach could be used in extensions of the BCI paradigm to support perceptual learning during second language acquisition

Abstract

Both notional and grammatical number affect agreement during language production. To explore their workings, we investigated how semantic integration, a type of conceptual relatedness, produces variations in agreement (Solomon & Pearlmutter, 2004). These agreement variations are open to competing notional and lexical–grammatical number accounts. The notional hypothesis is that changes in number agreement reflect differences in referential coherence: More coherence yields more singularity. The lexical–grammatical hypothesis is that changes in agreement arise from competition between nouns differing in grammatical number: More competition yields more plurality. These hypotheses make opposing predictions about semantic integration. On the notional hypothesis, semantic integration promotes singular agreement. On the lexical–grammatical hypothesis, semantic integration promotes plural agreement. We tested these hypotheses with agreement elicitation tasks in two experiments. Both experiments supported the notional hypothesis, with semantic integration creating faster and more frequent singular agreement. This implies that referential coherence mediates the effect of semantic integration on number agreement.

Abstract

Automated processing of large amounts of scientific data, especially across domains, requires that the data can be selected and parsed without human intervention. Precise characterization of that data, as in typing, is needed once the processing goes beyond the realm of domain specific or local research group assumptions. The Research Data Alliance (RDA) Data Type Registries Working Group (DTR-WG) was assembled to address this issue through the creation of a Data Type Registry methodology, data model, and prototype. The WG was approved by the RDA Council during March of 2013 and will complete its work in mid-2014, in between the third and fourth RDA Plenaries.

Abstract

L2 listening can involve the phantom activation of words which are not actually in the input. All spoken-word recognition involves multiple concurrent activation of word candidates, with selection of the correct words achieved by a process of competition between them. L2 listening involves more such activation than L1 listening, and we report two studies illustrating this. First, in a lexical decision study, L2 listeners accepted (but L1 listeners did not accept) spoken non-words such as groof or flide as real English words. Second, a priming study demonstrated that the same spoken non-words made recognition of the real words groove, flight easier for L2 (but not L1) listeners, suggesting that, for the L2 listeners only, these real words had been activated by the spoken non-word input. We propose that further understanding of the activation and competition process in L2 lexical processing could lead to new understanding of L2 listening difficulty.

Abstract

Native and nonnative listeners categorized final /v/ versus /f/ in English nonwords. Fricatives followed phonetically long originally /v/-preceding or short originally /f/-preceding vowels. Vowel duration was constant for each participant and sometimes mismatched other voicing cues. Previous results showed that English but not Dutch listeners whose L1 has no final voicing contrast nevertheless used the misleading vowel duration for /v/-/f/ categorization. New analyses showed that Dutch listeners did use vowel duration initially, but quickly reduced its use, whereas the English listeners used it consistently throughout the experiment. Thus, nonnative listeners adapted to the stimuli more flexibly than native listeners did.

Abstract

This study examined the influence of background language variation on speech recognition. English listeners performed an English sentence recognition task in either “pure” background conditions in which all trials had either English or Dutch background babble or in mixed background conditions in which the background language varied across trials (i.e., a mix of English and Dutch or one of these background languages mixed with quiet trials). This design allowed the authors to compare performance on identical trials across pure and mixed conditions. The data reveal that speech-in-speech recognition is sensitive to contextual variation in terms of the target-background language (mis)match depending on the relative ease/difficulty of the test trials in relation to the surrounding trials.

Abstract

Previous research has shown that talker variability affects recognition memory for spoken words (Palmeri et al., 1993). This study examines whether additive noise is similarly retained in memory for spoken words. In a continuous recognition memory task, participants listened to a list of spoken words mixed with noise consisting of a pure tone or of high-pass filtered white noise. The noise and speech were in non-overlapping frequency bands. In Experiment 1, listeners indicated whether each spoken word in the list was OLD (heard before in the list) or NEW. Results showed that listeners were as accurate and as fast at recognizing a word as old if it was repeated with the same or different noise. In Experiment 2, listeners also indicated whether words judged as OLD were repeated with the same or with a different type of noise. Results showed that listeners benefitted from hearing words presented with the same versus different noise. These data suggest that spoken words and temporally-overlapping but spectrally non-overlapping noise are retained or reconstructed together for explicit, but not for implicit recognition memory. This indicates that the extent to which noise variability is retained seems to depend on the depth of processing

Abstract

In two eye-tracking experiments we examined whether wider discourse information helps
the recognition of reduced pronunciations (e.g., 'puter') more than the recognition of
canonical pronunciations of spoken words (e.g., 'computer'). Dutch participants listened to
sentences from a casual speech corpus containing canonical and reduced target words. Target
word recognition was assessed by measuring eye fixation proportions to four printed words
on a visual display: the target, a "reduced form" competitor, a "canonical form" competitor
and an unrelated distractor. Target sentences were presented in isolation or with a wider
discourse context. Experiment 1 revealed that target recognition was facilitated by wider
discourse information. Importantly, the recognition of reduced forms improved significantly
when preceded by strongly rather than by weakly supportive discourse contexts. This was not
the case for canonical forms: listeners' target word recognition was not dependent on the
degree of supportive context. Experiment 2 showed that the differential context effects in
Experiment 1 were not due to an additional amount of speaker information. Thus, these data
suggest that in natural settings a strongly supportive discourse context is more important for
the recognition of reduced forms than the recognition of canonical forms.

Abstract

The Tzeltal language is spoken in a mountainous region of southern Mexico by some 280,000 Mayan corn farmers. This paper focuses on landscape and place vocabulary in the Tzeltal municipio of Tenejapa, where speakers use an absolute system of spatial reckoning based on the overall uphill (southward)/downhill (northward) slope of the land. The paper examines the formal and functional properties of the Tenejapa Tzeltal vocabulary labelling features of the local landscape and relates it to spatial vocabulary for describing locative relations, including the uphill/downhill axis for spatial reckoning as well as body part terms for specifying parts of locative grounds. I then examine the local place names, discuss their semantic and morphosyntactic properties, and relate them to the landscape vocabulary, to spatial vocabulary, and also to cultural narratives about events associated with particular places. I conclude with some observations on the determinants of landscape and place terminology in Tzeltal, and what this vocabulary and how it is used reveal about the conceptualization of landscape and places.

Abstract

How do children learn a language whose arguments are freely ellipsed? The Mayan language Tzeltal, spoken in southern Mexico, is such a language. The acquisition pattern for Tzeltal is distinctive, in at least two ways: verbs predominate even in children’s very early production vocabulary, and these verbs are often very specific in meaning. This runs counter to the patterns found in most Indo-European languages, where nouns tend to predominate in early vocabulary and children’s first verbs tend to be ‘light’ or semantically general. Here I explore the idea that noun ellipsis and ‘heavy’ verbs are related: the ‘heavy’ verbs restrict the nominal reference and so allow recovery of the ‘missing’ nouns. Using data drawn from videotaped interaction of four Tzeltal children and their caregivers, I examined transitive clauses in an adult input sample and in child speech, and tested the hypothesis that direct object arguments are less likely to be realized overtly with semantically specific verbs than with general verbs. This hypothesis was confirmed, both for the adult input and for the speech of the children (aged 3;4-3;9). It is therefore possible that argument ellipsis could provide a clue to verb semantics (specific vs. general) for the Tzeltal child.

Abstract

A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.

Abstract

When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.

Abstract

The surge of research activity focussing on children's acquisition of verbs (e.g., Tomasello and Merriman 1996) addresses some fundamental questions: Just how variable across languages, and across individual children, is the process of verb learning? How specific are arguments to particular verbs in early child language? How does the grammatical category 'Verb' develop? The position of Universal Grammar, that a verb category is early, contrasts with that of Tomasello (1992), Pine and Lieven and their colleagues (1996, in press), and many others, that children develop a verb category slowly, gradually building up subcategorizations of verbs around pragmatic, syntactic, and semantic properties of the language they are exposed to. On this latter view, one would expect the language which the child is learning, the cultural milieu and the nature of the interactions in which the child is engaged, to influence the process of acquiring verb argument structures. This paper explores these issues by examining the development of argument representation in the Mayan language Tzeltal, in both its lexical and verbal cross-referencing forms, and analyzing the semantic and pragmatic factors influencing the form argument representation takes. Certain facts about Tzeltal (the ergative/ absolutive marking, the semantic specificity of transitive and positional verbs) are proposed to affect the representation of arguments. The first 500 multimorpheme combinations of 3 children (aged between 1;8 and 2;4) are examined. It is argued that there is no evidence of semantically light 'pathbreaking' verbs (Ninio 1996) leading the way into word combinations. There is early productivity of cross-referencing affixes marking A, S, and O arguments (although there are systematic omissions). The paper assesses the respective contributions of three kinds of factors to these results - structural (regular morphology), semantic (verb specificity) and pragmatic (the nature of Tzeltal conversational interaction).

Abstract

Whereas most research in SLA assumes the relationship between the first language (L1) and the second language (L2) to be unidirectional, this study investigates the possibility of a bidirectional relationship. We examine the domain of manner of motion, in which monolingual Japanese and English speakers differ both in speech and gesture. Parallel influences of the L1 on the L2 and the L2 on the L1 were found in production from native Japanese speakers with intermediate knowledge of English. These effects, which were strongest in gesture patterns, demonstrate that (a) bidirectional interaction between languages in the multilingual mind can occur even with intermediate proficiency in the L2 and (b) gesture analyses can offer insights on interactions between languages beyond those observed through analyses of speech alone.

Abstract

Abundant evidence across languages, structures, proficiencies, and modalities shows that properties of first languages influence performance in second languages. This paper presents an alternative perspective on the interaction between established and emerging languages within second language speakers by arguing that an L2 can influence an L1, even at relatively low proficiency levels. Analyses of the gesture viewpoint employed in English and Japanese descriptions of motion events revealed systematic between-language and within-language differences. Monolingual Japanese speakers used significantly more Character Viewpoint than monolingual English speakers, who predominantly employed Observer Viewpoint. In their L1 and their L2, however, native Japanese speakers with intermediate knowledge of English patterned more like the monolingual English speakers than their monolingual Japanese counterparts. After controlling for effects of cultural exposure, these results offer valuable insights into both the nature of cross-linguistic interactions within individuals and potential factors underlying gesture viewpoint.

Abstract

The systematic study of kinesics, gaze, and gestural aspects of communication in Central American cultures is a recent phenomenon, most of it focussing on the Mayan cultures of southern Mexico, Guatemala, and Belize. This article surveys ethnographic observations and research reports on bodily aspects of speaking in three domains: gaze and kinesics in social interaction, indexical pointing in adult and caregiver-child interactions, and co-speech gestures associated with “absolute” (geographically-based) systems of spatial reference. In addition, it reports how the indigenous co-speech gesture repertoire has provided the basis for developing village sign languages in the region. It is argued that studies of the embodied aspects of speech in the Mayan areas of Mexico and Central America have contributed to the typology of gestures and of spatial frames of reference. They have refined our understanding of how spatial frames of reference are invoked, communicated, and switched in conversational interaction and of the importance of co-speech gestures in understanding language use, language acquisition, and the transmission of culture-specific cognitive styles.

Abstract

This research received technical and financial support from Syracuse University, the Max Planck Institute for Psycholinguistics, and the Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO; MPI 56-384, The Dynamics of Multilingual Processing, awarded to Marianne Gullberg and Peter Indefrey).

Abstract

This is a translation of the Brown 1998 article in Journal of Linguistic Anthropology, 'Conversational structure and language acquisition: The role of repetition in Tzeltal adult and child speech'.

Abstract

This is a Spanish translation of Brown 1997.

Abstract

The spatial vocabulary of the Mayan language Tzeltal is dominated by an Absolute system of spatial reckoning, whereby an "uphill/downhill" coordinate abstracted from the lay of the land is used to reckon spatial relationships on the horizontal in both small-scale and long distance space. This system is used in lieu of a Front/Back/Left/Right system which does not exist in this language. The spatial vocabulary dedicated to this system (which I refer to in general as the UP/DOWN vocabulary) includes intransitive motion verbs (roughly translatable as "ascend"/"descend"), their transitivized counterparts ("make it ascend/descend"), directional adverbs ("uphillwards"/"downhillwards"), and possessed relational nouns ("uphill/downhill in relation to it"). This same vocabulary applies to spatial relations on the vertical axis. Two seemingly contradictory observations about children's early meanings for the spatial verbs dedicated to this system motivate the proposal put forward in this paper. On the one hand, Tzeltal children's UP/DOWN vocabulary shows very early sensitivity to the semantic structure of the language they are learning: the meanings for these verbs are from the first usages attached to the slope of the land, and to particular places; there is no evidence of an initial preference for the vertical meaning. On the other hand, children's meanings remain for a long time too specific, and errors of interpretation/production (using the verbs to mean 'local slope of land' rather than 'overall N/S slope of land direction) are evident in verbal productions of some children as late as age 7 or 8. The proposal is made that the highly specific nature of Tzeltal verbs at the basic level influences the children's hypotheses about what kinds of meanings verbs can have.

Abstract

This is a reprint of the Brown 1999 article.

Abstract

This paper presents results of a comparative project documenting the development of verbal agreement inflections in children learning four different Mayan languages: K’iche’, Tzeltal, Tzotzil, and Yukatek. These languages have similar inflectional paradigms: they have a generally agglutinative morphology, with transitive verbs obligatorily marked with separate cross-referencing inflections for the two core arguments (‘ergative’ and ‘absolutive’). Verbs are also inflected for aspect and mood, and they carry a ‘status suffix’ which generally marks verb transitivity and mood. At a more detailed level, the four languages differ strikingly in the realization of cross-reference marking. For each language, we examined longitudinal language production data from two children at around 2;0, 2;6, 3;0, and 3;6 years of age. We relate differences in the acquisition patterns of verbal morphology in the languages to 1) the placement of affixes, 2) phonological and prosodic prominence, 3) language-specific constraints on the various forms of the affixes, and 4) consistent vs. split ergativity, and conclude that prosodic salience accounts provide th ebest explanation for the acquisition patterns in these four languages.

Abstract

This is an encyclopedia entry surveying research and theoretical approaches to politeness phenomena in language usage.

Abstract

This article is a reprint of chapter 1, the introduction to Brown and Levinson, 1987, Politeness: Some universals in language usage (Cambridge University Press).

Abstract

This paper addresses the theories of Eve Clark about how children learn word meanings in western middle-class interactional contexts by examining child language data from a Tzeltal Maya society in southern Mexico where interaction patterns are radically different. Through examples of caregiver interactions with children 12-30 months old, I ask what lessons we can learn from how the details of these interactions unfold in this non-child-centered cultural context, and specifically, what aspects of the Tzeltal linguistic and interactional context might help to focus children’s attention on the meanings and the conventional forms of words being used around them.

Abstract

During unscripted speech, speakers coordinate the formulation of pre-linguistic messages with the linguistic processes that implement those messages into speech. We examine the process of constructing a contextually appropriate message and interfacing that message with utterance planning in English (the small butterfly) and Spanish (la mariposa pequeña) during an unscripted, interactive task. The coordination of gaze and speech during formulation of these messages is used to evaluate two hypotheses regarding the lower limit on the size of message planning units, namely whether messages are planned in units isomorphous to entire phrases or units isomorphous to single lexical items. Comparing the planning of fluent pre-nominal adjectives in English and post-nominal adjectives in Spanish showed that size information is added to the message later in Spanish than English, suggesting that speakers can prepare pre-linguistic messages in lexically-sized units. The results also suggest that the speaker can use disfluency to coordinate the transition from thought to speech.

Abstract

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.

Abstract

We investigated localization performance of simple targets in patient TN, who suffered bilateral damage of his primary visual cortex and shows complete cortical blindness. Using a two-alternative forced-choice paradigm, TN was asked to guess the position of left-right targets with goal-directed and discrete manual responses. The results indicate a clear dissociation between goal-directed and discrete responses. TN pointed toward the correct target location in approximately 75% of the trials but was at chance level with discrete responses. This indicates that the residual ability to localize an unseen stimulus depends critically on the possibility to translate a visual signal into a goal-directed motor output at least in certain forms of blindsight.

Abstract

Human communication is inherently multimodal. Auditory speech, but also visual cues can be used to understand another talker. Most studies of audiovisual speech perception have focused on the perception of speech segments (i.e., speech sounds). However, less is known about the influence of visual information on the perception of suprasegmental aspects of speech like lexical stress. In two experiments, we investigated the influence of different visual cues (e.g., facial articulatory cues and beat gestures) on the audiovisual perception of lexical stress. We presented auditory lexical stress continua of disyllabic Dutch stress pairs together with videos of a speaker producing stress on the first or second syllable (e.g., articulating VOORnaam or voorNAAM). Moreover, we combined and fully crossed the face of the speaker producing lexical stress on either syllable with a gesturing body producing a beat gesture on either the first or second syllable. Results showed that people successfully used visual articulatory cues to stress in muted videos. However, in audiovisual conditions, we were not able to find an effect of visual articulatory cues. In contrast, we found that the temporal alignment of beat gestures with speech robustly influenced participants' perception of lexical stress. These results highlight the importance of considering suprasegmental aspects of language in multimodal contexts.

Abstract

Background: Despite a pervasive cortico-centric view in cognitive neuroscience, subcortical structures including the thalamus have been shown to be increasingly involved in higher cognitive functions. Previous structural and functional imaging studies demonstrated cortico-thalamo-cortical loops which may support various cognitive functions including language. However, large-scale functional connectivity of the thalamus during language tasks has not been examined before. Methods: The present study employed meta-analytic connectivity modeling to identify language-related coactivation patterns of the left and right thalami. The left and right thalami were used as regions of interest to search the BrainMap functional database for neuroimaging experiments with healthy participants reporting language-related activations in each region of interest. Activation likelihood estimation analyses were then carried out on the foci extracted from the identified studies to estimate functional convergence for each thalamus. A functional decoding analysis based on the same database was conducted to characterize thalamic contributions to different language functions. Results: The results revealed bilateral frontotemporal and bilateral subcortical (basal ganglia) coactivation patterns for both the left and right thalami, and also right cerebellar coactivations for the left thalamus, during language processing. In light of previous empirical studies and theoretical frameworks, the present connectivity and functional decoding findings suggest that cortico-subcortical-cerebellar-cortical loops modulate and fine-tune information transfer within the bilateral frontotemporal cortices during language processing, especially during production and semantic operations, but also other language (e.g., syntax, phonology) and cognitive operations (e.g., attention, cognitive control). Conclusion: The current findings show that the language-relevant network extends beyond the classical left perisylvian cortices and spans bilateral cortical, bilateral subcortical (bilateral thalamus, bilateral basal ganglia) and right cerebellar regions.

Abstract

It is controversial whether the linguistic distinction between nouns and verbs is reflected in the cortical organization of the lexicon. Neuropsychological studies of aphasia and neuroimaging studies have associated the left prefrontal cortex, particularly Broca’s area, with verbs/actions, and the left posterior temporal cortex, particularly Wernicke’s area, with nouns/objects. However, more recent research has revealed that evidence for this distinction is inconsistent. Against this background, the present study employed low-frequency repetitive transcranial magnetic stimulation (rTMS) to investigate the dissociation of action and object naming in Broca’s and Wernicke’s areas in Turkish. Thirty-six healthy adult participants took part in the study. In two experiments, low-frequency (1 Hz) inhibitory rTMS was administered at 100% of motor threshold for 10 minutes to suppress the activity of the left prefrontal cortex spanning Broca’s area or the left posterior temporal cortex spanning Wernicke’s area. A picture naming task involving objects and actions was employed before and after the stimulation sessions to examine any pre- to post-stimulation changes in naming latencies. Linear mixed models that included various psycholinguistic covariates including frequency, visual and conceptual complexity, age of acquisition, name agreement and word length were fitted to the data. The findings showed that conceptual complexity, age of acquisition of the target word and name agreement had a significant effect on naming latencies, which was consistent across both experiments. Critically, the findings significantly associated Broca’s area, but not Wernicke’s area, in the distinction between naming objects and actions. Suppression of Broca’s area led to a significant and robust increase in naming latencies (or slowdown) for objects and a marginally significant, but not robust, reduction in naming latencies (or speedup) for actions. The findings suggest that actions and objects in Turkish can be dissociated in Broca’s area.

Abstract

Biological structures are defined by rigid elements, such as bones, and elastic elements, like muscles and membranes. Computer vision advances have enabled automatic tracking of moving animal skeletal poses. Such developments provide insights into complex time-varying dynamics of biological motion. Conversely, the elastic soft-tissues of organisms, like the nose of elephant seals, or the buccal sac of frogs, are poorly studied and no computer vision methods have been proposed. This leaves major gaps in different areas of biology. In primatology, most critically, the function of air sacs is widely debated; many open questions on the role of air sacs in the evolution of animal communication, including human speech, remain unanswered. To support the dynamic study of soft-tissue structures, we present a toolkit for the automated tracking of semi-circular elastic structures in biological video data. The toolkit contains unsupervised computer vision tools (using Hough transform) and supervised deep learning (by adapting DeepLabCut) methodology to track inflation of laryngeal air sacs or other biological spherical objects (e.g., gular cavities). Confirming the value of elastic kinematic analysis, we show that air sac inflation correlates with acoustic markers that likely inform about body size. Finally, we present a pre-processed audiovisual-kinematic dataset of 7+ hours of closeup audiovisual recordings of siamang (Symphalangus syndactylus) singing. This toolkit (https://github.com/WimPouw/AirSacTracker) aims to revitalize the study of non-skeletal morphological structures across multiple species.

Abstract

Exploring the semantic encoding of a group of crosslinguistically uncommon “spatial-coordinate demonstratives”, this work establishes the existence of demonstratives whose function is to project angular search domains, thus invoking proper coordinate systems (or “frames of reference”). What is special about these distinctions is that they rely on a spatial asymmetry in relativizing a demonstrative referent (representing the Figure) to the deictic center (representing the Ground). A semantic typology of such demonstratives is constructed based on the nature of the asymmetries they employ. A major distinction is proposed between asymmetries outside the deictic Figure-Ground array (e.g., features of the larger environment) and those within it (e.g., facets of the speaker/addressee dyad). A unique system of the latter type, present in Jahai, an Aslian (Mon-Khmer) language spoken by groups of hunter-gatherers in the Malay Peninsula, is introduced and explored in detail using elicited data as well as natural conversational data captured on video. Although crosslinguistically unusual, spatial-coordinate demonstratives sit at the interface of issues central to current discourse in semantic-pragmatic theory: demonstrative function, deictic layout, and spatial frames of reference.

Abstract

This article investigates hydrological lexicon in Jahai, a Mon-Khmer language of the Malay Peninsula. Setting out from an analysis of the structural and semantic properties as well as the indigenous vs. borrowed origin of lexicon related to drainage, it teases out a set of distinct lexical systems for reference to and description of hydrological features. These include (1) indigenous nominal labels subcategorised by metaphor, (2) borrowed nominal labels, (3) verbals referring to properties and processes of water, (4) a set of motion verbs, and (5) place names. The lexical systems, functionally diverse and driven by different factors, illustrate that principles and strategies of geographical categorisation can vary systematically and profoundly within a single language.

Abstract

This special issue is the outcome of collaborative work on the relationship between language and landscape, carried out in the Language and Cognition Group at the Max Planck Institute for Psycholinguistics. The contributions explore the linguistic categories of landscape terms and place names in nine genetically, typologically and geographically diverse languages, drawing on data from first-hand fieldwork. The present introductory article lays out the reasons why the domain of landscape is of central interest to the language sciences and beyond, and it outlines some of the major patterns that emerge from the cross-linguistic comparison which the papers invite. The data point to considerable variation within and across languages in how systems of landscape terms and place names are ontologised. This has important implications for practical applications from international law to modern navigation systems.

Abstract

Studies of agrammatic Broca's aphasia reveal a diverging pattern of performance in the comprehension of reflexive elements: offline, performance seems unimpaired, whereas online—and in contrast to both matching controls and Wernicke's patients—no antecedent reactivation is observed at the reflexive. Here we propose that this difference characterizes the agrammatic comprehension deficit as a result of slower-than-normal syntactic structure formation. To test this characterization, the comprehension of three Dutch agrammatic patients and matching control participants was investigated utilizing the cross-modal lexical decision (CMLD) interference task. Two types of reflexive-antecedent dependencies were tested, which have already been shown to exert distinct processing demands on the comprehension system as a function of the level at which the dependency was formed. Our hypothesis predicts that if the agrammatic system has a processing limitation such that syntactic structure is built in a protracted manner, this limitation will be reflected in delayed interpretation. Confirming previous findings, the Dutch patients show an effect of distinct processing demands for the two types of reflexive-antecedent dependencies but with a temporal delay. We argue that this delayed syntactic structure formation is the result of limited processing capacity that specifically affects the syntactic system.

Abstract

This paper investigates the integration of definite determiner phrases (DPs) as a function of their contextual salience, which is reflected in the degree of dependency on prior information. DPs depend on previously established discourse referents or introduce a new, independent discourse referent. This paper presents a formal model that explains how discourse referents are represented in the language system and what kind of mechanisms are implemented during DP interpretation. Experimental data from an event-related potential study are discussed that demonstrate how definite DPs are integrated in real-time processing. The data provide evidence for two distinct mechanisms – Specify R and Establish Independent File Card – and substantiate a model that includes various processes and constraints at the level of discourse representation.

Abstract

Cortical blindness refers to the loss of vision that occurs after destruction of the primary visual cortex. Although there is no sensory cortex and hence no conscious vision, some cortically blind patients show amygdala activation in response to facial or bodily expressions of emotion. Here we investigated whether direction of gaze could also be processed in the absence of any functional visual cortex. A well-known patient with bilateral destruction of his visual cortex and subsequent cortical blindness was investigated in an fMRI paradigm during which blocks of faces were presented either with their gaze directed toward or away from the viewer. Increased right amygdala activation was found in response to directed compared with averted gaze. Activity in this region was further found to be functionally connected to a larger network associated with face and gaze processing. The present study demonstrates that, in human subjects, the amygdala response to eye contact does not require an intact primary visual cortex.

Abstract

Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology

Abstract

Much evidence has suggested that people conceive of time as flowing directionally in transverse space (e.g., from left to right for English speakers). However, this phenomenon has never been tested in a fully nonlinguistic paradigm where neither stimuli nor task use linguistic labels, which raises the possibility that time is directional only when reading/writing direction has been evoked. In the present study, English-speaking participants viewed a video where an actor sang a note while gesturing and reproduced the duration of the sung note by pressing a button. Results showed that the perceived duration of the note was increased by a long-distance gesture, relative to a short-distance gesture. This effect was equally strong for gestures moving from left to right and from right to left and was not dependent on gestures depicting movement through space; a weaker version of the effect emerged with static gestures depicting spatial distance. Since both our gesture stimuli and temporal reproduction task were nonlinguistic, we conclude that the spatial representation of time is nondirectional: Movement contributes, but is not necessary, to the representation of temporal information in a transverse timeline.

Abstract

Purpose: To investigate masking release for speech maskers for linguistically and phonetically close (English and Dutch) and distant (English and Mandarin) language pairs. Method: Thirty-two monolingual speakers of English with normal audiometric thresholds participated in the study. Data are reported for an English sentence recognition task in English and for Dutch and Mandarin competing speech maskers (Experiment 1) and noise maskers (Experiment 2) that were matched either to the long-term average speech spectra or to the temporal modulations of the speech maskers from Experiment 1. Results: Listener performance increased as the target-tomasker linguistic distance increased (English-in-English < English-in-Dutch < English-in-Mandarin). Conclusion: Spectral differences between maskers can account for some, but not all, of the variation in performance between maskers; however, temporal differences did not seem to play a significant role.

Abstract

Humans are the only species that uses communication to teach new knowledge to novices, usually to children (Tomasello, 1999 and Csibra and Gergely, 2006). This context of communication can employ “demonstrations” and it takes place with or without the help of objects (Clark, 1996). Previous research has focused on understanding the nature of demonstrations for very young children and with objects involved. However, little is known about the strategies used in demonstrating an action to an older child in comparison to another adult and without the use of objects, i.e., with gestures only. We tested if during demonstration of an action speakers use different degrees of iconicity in gestures for a child compared to an adult. 18 Italian subjects described to a camera how to make coffee imagining the listener as a 12-year-old child, a novice or an expert adult. While speech was found more informative both for the novice adult and for the child compared to the expert adult, the rate of iconic gestures increased and they were more informative and bigger only for the child compared to both of the adult conditions. Iconicity in gestures can be a powerful communicative strategy in teaching new knowledge to children in demonstrations and this is in line with claims that it can be used as a scaffolding device in grounding knowledge in experience (Perniss et al., 2010).

Abstract

Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

Abstract

We call those gestures “instrumental” that can enhance certain thinking processes of an agent by offering him representational models of his actions in a virtual space of imaginary performative possibilities. We argue that pointing is an instrumental gesture in that it represents geometrical information on one’s own gaze direction (i.e., a spatial model for attentional/ocular fixation/orientation), and provides a ritualized template for initiating gaze coordination and joint attention. We counter two possible objections, asserting respectively that the representational content of pointing is not constitutive, but derived from language, and that pointing directly solicits gaze coordination, without representing it. We consider two studies suggesting that attention and spatial perception are actively modified by one’s own pointing activity: the first study shows that pointing gestures help children link sets of objects to their corresponding number words; the second, that adults are faster and more accurate in counting when they point.

Abstract

Madagascar is located at the crossroads of the Asian and African worlds and is therefore of particular interest for studies on human population migration. Within the large human diversity of the Great Island, we focused our study on a particular ethnic group, the Antemoro. Their culture presents an important Arab-Islamic influence, but the question of an Arab biological inheritance remains unresolved. We analyzed paternal (n=129) and maternal (n=135) lineages of this ethnic group. Although the majority of Antemoro genetic ancestry comes from sub-Saharan African and Southeast Asian gene pools, we observed in their paternal lineages two specific haplogroups (J1 and T1) linked to Middle Eastern origins. This inheritance was restricted to some Antemoro sub-groups. Statistical analyses tended to confirm significant Middle Eastern genetic contribution. This study gives a new perspective to the large human genetic diversity in Madagascar

Abstract

Real-time estimation of what we will do next is a crucial prerequisite
of purposive behavior. During the planning of goal-oriented actions, for
instance, the temporal and causal organization of upcoming subsequent
moves needs to be predicted based on our knowledge of events. A forward
computation of sequential structure is also essential for planning
contiguous discourse segments and syntactic patterns in language. The
neural encoding of sequential event knowledge and its domain dependency
is a central issue in cognitive neuroscience. Converging evidence shows
the involvement of a dedicated neural substrate, including the
prefrontal cortex and Broca's area, in the representation and the
processing of sequential event structure. After reviewing major
representational models of sequential mechanisms in action and language,
we discuss relevant neuropsychological and neuroimaging findings on the
temporal organization of sequencing and sequence processing in both
domains, suggesting that sequential event knowledge may be modularly
organized through prefrontal and frontal subregions.

Abstract

Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs

Abstract

People often describe things that are similar as close and things that are dissimilar as far apart. Does the way people talk about similarity reveal something fundamental about the way they conceptualize it? Three experiments tested the relationship between similarity and spatial proximity that is encoded in metaphors in language. Similarity ratings for pairs of words or pictures varied as a function of how far apart the stimuli appeared on the computer screen, but the influence of distance on similarity differed depending on the type of judgments the participants made. Stimuli presented closer together were rated more similar during conceptual judgments of abstract entities or unseen object properties but were rated less similar during perceptual judgments of visual appearance. These contrasting results underscore the importance of testing predictions based on linguistic metaphors experimentally and suggest that our sense of similarity arises from our ability to combine available perceptual information with stored knowledge of experiential regularities.

Abstract

The idea that language shapes the way we think, often associated with Benjamin Whorf, has long been decried as not only wrong but also fundamentally wrong-headed. Yet, experimental evidence has reopened debate about the extent to which language influences nonlinguistic cognition, particularly in the domain of time. In this article, I will first analyze an influential argument against the Whorfian hypothesis and show that its anti-Whorfian conclusion is in part an artifact of conflating two distinct questions: Do we think in language? and Does language shape thought? Next, I will discuss crosslinguistic differences in spatial metaphors for time and describe experiments that demonstrate corresponding differences in nonlinguistic mental representations. Finally, I will sketch a simple learning mechanism by which some linguistic relativity effects appear to arise. Although people may not think in language, speakers of different languages develop distinctive conceptual repertoires as a consequence of ordinary and presumably universal neural and cognitive processes.

Abstract

The idea that language shapes the way we think, often associated with Benjamin Whorf, has long been decried as not only wrong but also fundamentally wrong-headed. Yet, experimental evidence has reopened debate about the extent to which language influences nonlinguistic cognition, particularly in the domain of time. In this article, I will first analyze an influential argument against the Whorfian hypothesis and show that its anti-Whorfian conclusion is in part an artifact of conflating two distinct questions: Do we think in language? and Does language shape thought? Next, I will discuss crosslinguistic differences in spatial metaphors for time and describe experiments that demonstrate corresponding differences in nonlinguistic mental representations. Finally, I will sketch a simple learning mechanism by which some linguistic relativity effects appear to arise. Although people may not think in language, speakers of different languages develop distinctive conceptual repertoires as a consequence of ordinary and presumably universal neural and cognitive processes.

Abstract

How do we construct abstract ideas like justice, mathematics, or time-travel? In this paper we investigate whether mental representations that result from physical experience underlie people’s more abstract mental representations, using the domains of space and time as a testbed. People often talk about time using spatial language (e.g., a long vacation, a short concert). Do people also think about time using spatial representations, even when they are not using language? Results of six psychophysical experiments revealed that people are unable to ignore irrelevant spatial information when making judgments about duration, but not the converse. This pattern, which is predicted by the asymmetry between space and time in linguistic metaphors, was demonstrated here in tasks that do not involve any linguistic stimuli or responses. These findings provide evidence that the metaphorical relationship between space and time observed in language also exists in our more basic representations of distance and duration. Results suggest that our mental representations of things we can never see or touch may be built, in part, out of representations of physical experiences in perception and motor action.

Abstract

A key part of learning to speak with others is figuring out when to start talking and how to hold the floor in conversation. For young children, the challenge of planning a linguistic response can slow down their response latencies, making misunderstanding, repair, and loss of the floor more likely. Like adults, children can mitigate their delays by using fillers (e.g., uh and um) at the start of their turns. In this chapter I analyze the onset and development of fillers in five children’s spontaneous speech from ages 1;6–3;6. My findings suggest that children start using fillers by 2;0, and use them to effectively mitigate delay in making a response.

Abstract

Conversation is a structured, joint action for which children need to learn a specialized set skills and conventions. Because conversation is a primary source of linguistic input, we can better grasp how children become active agents in their own linguistic development by studying their acquisition of conversational skills. In this chapter I review research on children’s turn-taking. This fundamental skill of human interaction allows children to gain feedback, make clarifications, and test hypotheses at every stage of development. I broadly review children’s conversational experiences, the types of turn-based contingency they must acquire, how they ask and answer questions, and when they manage to make timely responses

Abstract

This study examines whether children acquiring Tseltal (Mayan) demonstrate a noun bias – an overrepresentation of nouns in their early vocabularies. Nouns, specifically concrete and animate nouns, are argued to universally predominate in children’s early vocabularies because their referents are naturally available as bounded concepts to which linguistic labels can be mapped. This early advantage for noun learning has been documented using multiple methods and across a diverse collection of language populations. However, past evidence bearing on a noun bias in Tseltal learners has been mixed. Tseltal grammatical features and child–caregiver interactional patterns dampen the salience of nouns and heighten the salience of verbs, leading to the prediction of a diminished noun bias and perhaps even an early predominance of verbs. We here analyze the use of noun and verb stems in children’s spontaneous speech from egocentric daylong recordings of 29 Tseltal learners between 0;9 and 4;4. We find weak to no evidence for a noun bias using two separate analytical approaches on the same data; one analysis yields a preliminary suggestion of a flipped outcome (i.e. a verb bias). We discuss the implications of these findings for broader theories of learning bias in early lexical development.

Abstract

Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.

Abstract

Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.

Abstract

The environment in which infants learn language is multimodal and rich with social cues. Yet, the effects of such cues, such as eye contact, on early speech perception have not been closely examined. This study assessed the role of ostensive speech, signalled through the speaker's eye gaze direction, on infants’ word segmentation abilities. A familiarisation-then-test paradigm was used while electroencephalography (EEG) was recorded. Ten-month-old Dutch-learning infants were familiarised with audio-visual stories in which a speaker recited four sentences with one repeated target word. The speaker addressed them either with direct or with averted gaze while speaking. In the test phase following each story, infants heard familiar and novel words presented via audio-only. Infants’ familiarity with the words was assessed using event-related potentials (ERPs). As predicted, infants showed a negative-going ERP familiarity effect to the isolated familiarised words relative to the novel words over the left-frontal region of interest during the test phase. While the word familiarity effect did not differ as a function of the speaker's gaze over the left-frontal region of interest, there was also a (not predicted) positive-going early ERP familiarity effect over right fronto-central and central electrodes in the direct gaze condition only. This study provides electrophysiological evidence that infants can segment words from audio-visual speech, regardless of the ostensiveness of the speaker's communication. However, the speaker's gaze direction seems to influence the processing of familiar words.

Abstract

While infants' sensitivity to visual speech cues and the benefit of these cues have been well-established by behavioural studies, there is little evidence on the effect of visual speech cues on infants' neural processing of continuous auditory speech. In this study, we investigated whether visual speech cues, such as the movements of the lips, jaw, and larynx, facilitate infants' neural speech tracking. Ten-month-old Dutch-learning infants watched videos of a speaker reciting passages in infant-directed speech while electroencephalography (EEG) was recorded. In the videos, either the full face of the speaker was displayed or the speaker's mouth and jaw were masked with a block, obstructing the visual speech cues. To assess neural tracking, speech-brain coherence (SBC) was calculated, focusing particularly on the stress and syllabic rates (1–1.75 and 2.5–3.5 Hz respectively in our stimuli). First, overall, SBC was compared to surrogate data, and then, differences in SBC in the two conditions were tested at the frequencies of interest. Our results indicated that infants show significant tracking at both stress and syllabic rates. However, no differences were identified between the two conditions, meaning that infants' neural tracking was not modulated further by the presence of visual speech cues. Furthermore, we demonstrated that infants' neural tracking of low-frequency information is related to their subsequent vocabulary development at 18 months. Overall, this study provides evidence that infants' neural tracking of speech is not necessarily impaired when visual speech cues are not fully visible and that neural tracking may be a potential mechanism in successful language acquisition.

Abstract

Expressions of politeness such as 'please' are prominent elements of interactional conduct that are explicitly targeted in early socialization and are subject to cultural expectations around socially desirable behavior. Yet their specific interactional functions remain poorly understood. Using conversation analysis supplemented with systematic coding, this study investigates when and where interactants use 'please' in everyday requests. We find that 'please' is rare, occurring in only 7 percent of request attempts. Interactants use 'please' to manage face-threats when a request is ill fitted to its immediate interactional context. Within this, we identify two environments in which 'please' prototypically occurs. First, 'please' is used when the requestee has demonstrated unwillingness to comply. Second, 'please' is used when the request is intrusive due to its incompatibility with the requestee’s engagement in a competing action trajectory. Our findings advance research on politeness and extend Goffman’s theory of face-work, with particular salience for scholarship on request behavior.

Abstract

Sentence production is the process we use to create language-specific sentences that convey particular meanings. In production, there are complex interactions between meaning, words, and syntax at different points in sentences. Computational models can make these interactions explicit and connectionist learning algorithms have been useful for building such models. Connectionist models use domaingeneral mechanisms to learn internal representations and these mechanisms can also explain evidence of long-term syntactic adaptation in adult speakers. This paper will review work showing that these models can generalize words in novel ways and learn typologically-different languages like English and Japanese. It will also present modeling work which shows that connectionist learning algorithms can account for complex sentence production in children and adult production phenomena like structural priming, heavy NP shift, and conceptual/lexical accessibility.

Abstract

Both children and adults predict the content of upcoming language, suggesting that prediction is useful for learning as well as processing. We present an alternative model which can explain prediction behaviour as a by-product of language learning. We suggest that a consideration of language acquisition places important constraints on Pickering & Garrod's (P&G's) theory.

Abstract

RNAs processing other RNAs is very general in eukaryotes, but is not clear to what extent it is ancestral to eukaryotes. Here we focus on pre-mRNA splicing, one of the most important RNA-processing mechanisms in eukaryotes. In most eukaryotes splicing is predominantly catalysed by the major spliceosome complex, which consists of five uridine-rich small nuclear RNAs (U-snRNAs) and over 200 proteins in humans. Three major spliceosomal introns have been found experimentally in Giardia; one Giardia U-snRNA (U5) and a number of spliceosomal proteins have also been identified. However, because of the low sequence similarity between the Giardia ncRNAs and those of other eukaryotes, the other U-snRNAs of Giardia had not been found. Using two computational methods, candidates for Giardia U1, U2, U4 and U6 snRNAs were identified in this study and shown by RT-PCR to be expressed. We found that identifying a U2 candidate helped identify U6 and U4 based on interactions between them. Secondary structural modelling of the Giardia U-snRNA candidates revealed typical features of eukaryotic U-snRNAs. We demonstrate a successful approach to combine computational and experimental methods to identify expected ncRNAs in a highly divergent protist genome. Our findings reinforce the conclusion that spliceosomal small-nuclear RNAs existed in the last common ancestor of eukaryotes.

Abstract

This study tests whether potential differences in the perceptual robustness of speech sounds influence continuous-speech processes. Two phoneme-monitoring experiments examined place assimilation in Korean. In Experiment 1, Koreans monitored for targets which were either labials (/p,m/) or alveolars (/t,n/), and which were either unassimilated or assimilated to a following /k/ in two-word utterances. Listeners detected unaltered (unassimilated) labials faster and more accurately than assimilated labials; there was no such advantage for unaltered alveolars. In Experiment 2, labial–velar differences were tested using conditions in which /k/ and /p/ were illegally assimilated to a following /t/. Unassimilated sounds were detected faster than illegally assimilated sounds, but this difference tended to be larger for /k/ than for /p/. These place-dependent asymmetries suggest that differences in the perceptual robustness of segments play a role in shaping phonological patterns.

Abstract

This paper presents a model specification for group comparisons regarding a functional trend over time within a trial and learning across a series of trials in intensive binary longitudinal eye-tracking data. The functional trend and learning effects are modeled using by-variable smooth functions. This model specification is formulated as a generalized additive mixed model, which allowed for the use of the freely available mgcv package (Wood in Package ‘mgcv.’ https://cran.r-project.org/web/packages/mgcv/mgcv.pdf, 2023) in R. The model specification was applied to intensive binary longitudinal eye-tracking data, where the questions of interest concern differences between individuals with and without brain injury in their real-time language comprehension and how this affects their learning over time. The results of the simulation study show that the model parameters are recovered well and the by-variable smooth functions are adequately predicted in the same condition as those found in the application.

Abstract

Although most bilinguals can translate with relative ease, the underlying neuro-cognitive processes are poorly understood. Using event-related brain potentials (ERPs) we investigated the temporal course of word translation. Participants translated words from and to their first (L1, Dutch) and second (L2, English) language while ERPs were recorded. Interlingual homographs (IHs) were included to introduce language conflict. IHs share orthographic form but have different meanings in L1 and L2 (e.g., room in Dutch refers to cream). Results showed that the brain distinguished between translation directions as early as 200 ms after word presentation: the P2 amplitudes were more positive in the L1L2 translation direction. The N400 was also modulated by translation direction, with more negative amplitudes in the L2L1 translation direction. Furthermore, the IHs were translated more slowly, induced more errors, and elicited more negative N400 amplitudes than control words. In a naming experiment, participants read aloud the same words in L1 or L2 while ERPs were recorded. Results showed no effect of either IHs or language, suggesting that task schemas may be crucially related to language control in translation. Furthermore, translation appears to involve conceptual processing in both translation directions, and the task goal appears to influence how words are processed.

Abstract

The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals’ cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency

Abstract

This study investigated the motor strategy involved in mental rotation tasks by examining 2 types of spontaneous gestures (hand–object interaction gestures, representing the agentive hand action on an object, vs. object-movement gestures, representing the movement of an object by itself) and different types of verbal descriptions of rotation. Hand–object interaction gestures were produced earlier than object-movement gestures, the rate of both types of gestures decreased, and gestures became more distant from the stimulus object over trials (Experiments 1 and 3). Furthermore, in the first few trials, object-movement gestures increased, whereas hand–object interaction gestures decreased, and this change of motor strategies was also reflected in the type of verbal description of rotation in the concurrent speech (Experiment 2). This change of motor strategies was hampered when gestures were prohibited (Experiment 4). The authors concluded that the motor strategy becomes less dependent on agentive action on the object, and also becomes internalized over the course of the experiment, and that gesture facilitates the former process. When solving a problem regarding the physical world, adults go through developmental processes similar to internalization and symbolic distancing in young children, albeit within a much shorter time span.

Abstract

Language and action systems are highly interlinked. A critical piece of evidence is that speech and its accompanying gestures are tightly synchronized. Five experiments were conducted to test 2 hypotheses about the synchronization of speech and gesture. According to the interactive view, there is continuous information exchange between the gesture and speech systems, during both their planning and execution phases. According to the ballistic view, information exchange occurs only during the planning phases of gesture and speech, but the 2 systems become independent once their execution has been initiated. In all experiments, participants were required to point to and/or name a light that had just lit up. Virtual reality and motion tracking technologies were used to disrupt their gesture or speech execution. Participants delayed their speech onset when their gesture was disrupted. They did so even when their gesture was disrupted at its late phase and even when they received only the kinesthetic feedback of their gesture. Also, participants prolonged their gestures when their speech was disrupted. These findings support the interactive view and add new constraints on models of speech and gesture production

Abstract

Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.

Abstract

Dyslexia is a learning difficulty with neurodevelopmental origins, manifesting as reduced accuracy and speed in reading and spelling. It is substantially heritable and frequently co-occurs with other neurodevelopmental conditions, particularly attention deficit-hyperactivity disorder (ADHD). Here, we investigate the genetic structure underlying dyslexia and a range of psychiatric traits using results from genome-wide association studies of dyslexia, ADHD, autism, anorexia nervosa, anxiety, bipolar disorder, major depressive disorder, obsessive compulsive disorder,
schizophrenia, and Tourette syndrome. Genomic Structural Equation Modelling (GenomicSEM) showed heightened support for a model consisting of five correlated latent genomic factors described as: F1) compulsive disorders (including obsessive-compulsive disorder, anorexia nervosa, Tourette syndrome), F2) psychotic disorder (including bipolar disorder, schizophrenia), F3) internalising disorders (including anxiety disorder, major depressive disorder), F4) neurodevelopmental traits (including autism, ADHD), and F5) attention and learning difficulties (including ADHD, dyslexia). ADHD loaded more strongly on the attention and learning difficulties latent factor (F5) than on the neurodevelopmental traits latent factor (F4). The attention and learning difficulties latent factor (F5) was positively correlated with internalising disorders (.40), neurodevelopmental traits (.25) and psychotic disorders (.17) latent factors, and negatively correlated with the compulsive disorders (–.16) latent factor. These factor correlations are mirrored in genetic correlations observed between the attention and learning difficulties latent factor and other cognitive, psychological and wellbeing traits. We further investigated genetic variants underlying both dyslexia and ADHD, which implicated 49 loci (40 not previously found in GWAS of the individual traits) mapping to 174 genes (121 not found in GWAS of individual traits) as potential pleiotropic variants. Our study confirms the increased genetic relation between dyslexia and ADHD versus other psychiatric traits and uncovers novel pleiotropic variants affecting both traits. In future, analyses including additional co-occurring traits such as dyscalculia and dyspraxia will allow a clearer definition of the attention and learning difficulties latent factor, yielding further insights into factor structure and pleiotropic effects.

Abstract

We present results from two cross‐modal morphological priming experiments investigating regular person and number inflection on finite verbs in German. We found asymmetries in the priming patterns between different affixes that can be predicted from the structure of the paradigm. We also report data from language disorders which indicate that inflectional errors produced by language‐impaired adults and children tend to occur within a given paradigm dimension, rather than randomly across the paradigm. We conclude that morphological paradigms are used by the human language processor and can be systematically affected in language disorders.

Abstract

The authors investigate how morphological relationships between inflected word forms are represented in the mental lexicon, focusing on paradigmatic relations between regularly inflected word forms and relationships between different stem forms of the same lexeme. We present results from a series of psycholinguistic experiments investigating German adjectives (which are inflected for case, number, and gender) and the so-called strong verbs of German, which have different stem forms when inflected for person, number, tense, or mood. Evidence from three lexical-decision experiments indicates that regular affixes are stripped off from their stems for processing purposes. It will be shown that this holds for both unmarked and marked stem forms. Another set of experiments revealed priming effects between different paradigmatically related affixes and between different stem forms of the same lexeme. We will show that associative models of inflection do not capture these findings, and we explain our results in terms of combinatorial models of inflection in which regular affixes are represented in inflectional paradigms and stem variants are represented in structured lexical entries. We will also argue that the morphosyntactic features of stems and affixes form abstract underspecified entries. The experimental results indicate that the human language processor makes use of these representations.

Abstract

In this chapter, we survey the processes of recognizing and producing words and of understanding and creating sentences. Theory and research on these topics have been shaped by debates about how various sources of information are integrated in these processes, and about the role of language structure, as analyzed in the discipline of linguistics. In this chapter, we describe current views of fluent language users' comprehension of spoken and written language and their production of spoken language. We review what we consider to be the most important findings and theories in psycholinguistics, returning again and again to the questions of modularity and the importance of linguistic knowledge. Although we acknowledge the importance of social factors in language use, our focus is on core processes such as parsing and word retrieval that are not necessarily affected by such factors. We do not have space to say much about the important fields of developmental psycholinguistics, which deals with the acquisition of language by children, or applied psycholinguistics, which encompasses such topics as language disorders and language teaching. Although we recognize that there is burgeoning interest in the measurement of brain activity during language processing and how language is represented in the brain, space permits only occasional pointers to work in neuropsychology and the cognitive neuroscience of language. For treatment of these topics, and others, the interested reader could begin with two recent handbooks of psycholinguistics (Gaskell, 2007; Traxler & Gemsbacher, 2006) and a handbook of cognitive neuroscience (Gazzaniga, 2004).

Abstract

Recent theoretical models have demonstrated that phenotypic traits can support the non-random assortment of cooperators in a population, thereby permitting the evolution of cooperation. In these “tag-based models”, cooperators modulate cooperation according to an observable and hard-to-fake trait displayed by potential interaction partners. Socially acquired vocalizations in general, and speech accent among humans in particular, are frequently proposed as hard to fake and hard to hide traits that display sufficient cross-populational variability to reliably guide such social assortment in fission–fusion societies. Adults’ sensitivity to accent variation in social evaluation and decisions about cooperation is well-established in sociolinguistic research. The evolutionary and developmental origins of these biases are largely unknown, however. Here, we investigate the influence of speech accent on 5–10-year-old children's developing social and cooperative preferences across four Brazilian Amazonian towns. Two sites have a single dominant accent, and two sites have multiple co-existing accent varieties. We found that children's friendship and resource allocation preferences were guided by accent only in sites characterized by accent heterogeneity. Results further suggest that this may be due to a more sensitively tuned ear for accent variation. The demonstrated local-accent preference did not hold in the face of personal cost. Results suggest that mechanisms guiding tag-based assortment are likely tuned according to locally relevant tag-variation.

Abstract

The nature of the connection between musical and spatial processing is controversial. While pitch may be described in spatial terms such as “high” or “low”, it is unclear whether pitch and space are associated but separate dimensions or whether they share representational and processing resources. In the present study, we asked participants to judge whether a target vocal note was the same as (or different from) a preceding cue note. Importantly, target trials were presented as video clips where a singer sometimes gestured upward or downward while singing that target note, thus providing an alternative, concurrent source of spatial information. Our results show that pitch discrimination was significantly biased by the spatial movement in gesture, such that downward gestures made notes seem lower in pitch than they really were, and upward gestures made notes seem higher in pitch. These effects were eliminated by spatial memory load but preserved under verbal memory load conditions. Together, our findings suggest that pitch and space have a shared representation such that the mental representation of pitch is audiospatial in nature.

Abstract

Three dual-task experiments investigated the capacity demands of phoneme selection in picture naming. On each trial, participants named a target picture (Task 1) and carried out a tone discrimination task (Task 2). To vary the time required for phoneme selection, the authors combined the targets with phonologically related or unrelated distractor pictures (Experiment 1) or words, which were clearly visible (Experiment 2) or masked (Experiment 3). When pictures or masked words were presented, the tone discrimination and picture naming latencies were shorter in the related condition than in the unrelated condition, which indicates that phoneme selection requires central processing capacity. However, when the distractor words were clearly visible, the facilitatory effect was confined to the picture naming latencies. This pattern arose because the visible related distractor words facilitated phoneme selection but slowed down speech monitoring processes that had to be completed before the response to the tone could be selected.

Abstract

Contemporary methods of computational cognitive modeling have recently been criticized by Addyman and French (2012) on the grounds that they have not kept up with developments in computer technology and human–computer interaction. They present a manifesto for change according to which, it is argued, modelers should devote more effort to making their models accessible, both to non-modelers (with an appropriate easy-to-use user interface) and modelers alike. We agree that models, like data, should be freely available according to the normal standards of science, but caution against confusing implementations with specifications. Models may embody theories, but they generally also include implementation assumptions. Cognitive modeling methodology needs to be sensitive to this. We argue that specification, replication and experimentation are methodological approaches that can address this issue.

Abstract

Importance
Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective
To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources
Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing.

Study Selection
Studies investigating the sex ratio in individuals with ABCA4-AR and data from centers that collected ABCA4 variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023.

Data Extraction and Synthesis
Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with ABCA4-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ2 Tests were conducted to compare the proportions of women in adult-onset autosomal non–ABCA4-associated retinopathy and adult-onset ABCA4-associated retinopathy and to investigate if women with suspected ABCA4-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023.

Main Outcomes and Measures
Proportion of women per ABCA4-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with ABCA4-associated retinopathy vs those with other autosomal retinopathies and for individuals with ABCA4-associated retinopathy who underwent genetic testing vs those who did not.

Results
Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; P < .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; P = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with ABCA4-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47).

Conclusions and Relevance
This meta-analysis supports the likelihood that sex is a modifier in developing ABCA4-associated retinopathy for individuals with a mild ABCA4 allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with ABCA4-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care–seeking behavior, or by health care discrimination between women and men with ABCA4-AR.

Abstract

To answer a question, speakers must determine their response and formulate it in words. But do they decide on a response before formulation, or do they formulate different potential answers before selecting one? We addressed this issue in a verbal question-answering experiment. Participants answered questions more quickly when they had one potential answer (e.g., Which tourist attraction in Paris is very tall?) than when they had multiple potential answers (e.g., What is the name of a Shakespeare play?). Participants also answered more quickly when the set of potential answers were on average short rather than long, regardless of whether there was only one or multiple potential answers. Thus, participants were not affected by the linguistic complexity of unselected but plausible answers. These findings suggest that participants select a single answer before formulation.

Abstract

Research suggests that interlocutors manage the timing demands of conversation by preparing what they want to say early. In three experiments, we used a verbal question-answering task to investigate what aspects of their response speakers prepare early. In all three experiments, participants answered more quickly when the critical content (here, barks) necessary for answer preparation occurred early (e.g., Which animal barks and is also a common household pet?) rather than late (e.g., Which animal is a common household pet and also barks?). In the individual experiments, we found no convincing evidence that participants were slower to produce longer answers, consisting of multiple words, than shorter answers, consisting of a single word. There was also no interaction between these two factors. A combined analysis of the first two experiments confirmed this lack of interaction, and demonstrated that participants were faster to answer questions when the critical content was available early rather than late and when the answer was short rather than long. These findings provide tentative evidence for an account in which interlocutors prepare the content of their answer as soon as they can, but sometimes do not prepare its length (and thus form) until they are ready to speak.

Abstract

Name agreement (NA) refers to the degree to which speakers agree on a picture’s name. A robust finding is that speakers are faster to name pictures with high agreement (HA) than those with low agreement (LA). This NA effect is thought to occur because LA pictures strongly activate several names, and so speakers need time to select one. HA pictures, in contrast, strongly activate a single name and so there is no need to select one name out of several alternatives. Recent models of lexical access suggest that the structure of the mental lexicon changes with experience. Thus, speakers should consider a range of names when naming LA pictures, but the extent to which they consider each of these names should change with experience. We tested these hypotheses in two picture-naming experiments. In Experiment 1, participants were faster to name LA than HA pictures when they named each picture once. Importantly, they were faster to produce modal names (provided by most participants) than alternative names for LA pictures, consistent with the view that speakers activate multiple names for LA pictures. In Experiment 2, participants were familiarised with the modal name before the experiment and named each picture three times. Although there was still an NA effect when participants named the pictures the first time, it was reduced in comparison to Experiment 1 and was further reduced with each picture repetition.Thus, familiarisation and repetition reduced the NA effect, but did not eliminate it, suggesting speakers activate a range of plausible names.

Abstract

In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.

Abstract

Single nucleotide polymorphisms (SNPs) within the MIR137, TCF4, and ZNF804A genes show genome-wide association to schizophrenia. However, the biological basis for the associations is unknown. Here, we tested the effects of these genes on brain structure in 1300 healthy adults. Using volumetry and voxel-based morphometry, neither gene-wide effects—including the combined effect of the genes—nor single SNP effects—including specific psychosis risk SNPs—were found on total brain volume, grey matter, white matter, or hippocampal volume. These results suggest that the associations between these risk genes and schizophrenia are unlikely to be mediated via effects on macroscopic brain structure.

Abstract

The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses in 18 737 European samples utilizing longitudinally collected height measurements. We found significant associations (P < 1.67 × 10(-8)) at 10 loci, including LIN28B. Five loci associated with pubertal timing, all impacting multiple aspects of growth. In particular, a novel variant correlated with expression of MAPK3, and associated both with increased prepubertal growth and earlier menarche. Another variant near ADCY3-POMC associated with increased body mass index, reduced pubertal growth and earlier puberty. Whereas epidemiological correlations suggest that early puberty marks a pathway from rapid prepubertal growth to reduced final height and adult obesity, our study shows that individual loci associating with pubertal growth have variable longitudinal growth patterns that may differ from epidemiological observations. Overall, this study uncovers part of the complex genetic architecture linking pubertal height growth, the timing of puberty and childhood obesity and provides new information to pinpoint processes linking these traits.