Publications

Abstract

For a single species, human kinship organization is both remarkably diverse and strikingly organized. Kinship terminology is the structured vocabulary used to classify, refer to, and address relatives and family. Diversity in kinship terminology has been analyzed by anthropologists for over 150 years, although recurrent patterning across cultures remains incompletely explained. Despite the wealth of kinship data in the anthropological record, comparative studies of kinship terminology are hindered by data accessibility. Here we present Kinbank, a new database of 210,903 kinterms from a global sample of 1,229 spoken languages. Using open-access and transparent data provenance, Kinbank offers an extensible resource for kinship terminology, enabling researchers to explore the rich diversity of human family organization and to test longstanding hypotheses about the origins and drivers of recurrent patterns. We illustrate our contribution with two examples. We demonstrate strong gender bias in the phonological structure of parent terms across 1,022 languages, and we show that there is no evidence for a coevolutionary relationship between cross-cousin marriage and bifurcate-merging terminology in Bantu languages. Analysing kinship data is notoriously challenging; Kinbank aims to eliminate data accessibility issues from that challenge and provide a platform to build an interdisciplinary understanding of kinship.

Abstract

Horizontal transfer of transposable elements (TEs) is an important mechanism contributing to genetic diversity and innovation. Bats (order Chiroptera) have repeatedly been shown to experience horizontal transfer of TEs at what appears to be a high rate compared with other mammals. We investigated the occurrence of horizontally transferred (HT) DNA transposons involving bats. We found over 200 putative HT elements within bats; 16 transposons were shared across distantly related mammalian clades, and 2 other elements were shared with a fish and two lizard species. Our results indicate that bats are a hotspot for horizontal transfer of DNA transposons. These events broadly coincide with the diversification of several bat clades, supporting the hypothesis that DNA transposon invasions have contributed to genetic diversification of bats.

Abstract

Background

Autistic people show diverse trajectories of autistic traits over time, a phenomenon labelled ‘chronogeneity’. For example, some show a decrease in symptoms, whilst others experience an intensification of difficulties. Autism spectrum disorder (ASD) is a dimensional condition, representing one end of a trait continuum that extends throughout the population. To date, no studies have investigated chronogeneity across the full range of autistic traits. We investigated the nature and clinical significance of autism trait chronogeneity in a large, general population sample.
Methods

Autistic social/communication traits (ASTs) were measured in the Avon Longitudinal Study of Parents and Children using the Social and Communication Disorders Checklist (SCDC) at ages 7, 10, 13 and 16 (N = 9744). We used Growth Mixture Modelling (GMM) to identify groups defined by their AST trajectories. Measures of ASD diagnosis, sex, IQ and mental health (internalising and externalising) were used to investigate external validity of the derived trajectory groups.
Results

The selected GMM model identified four AST trajectory groups: (i) Persistent High (2.3% of sample), (ii) Persistent Low (83.5%), (iii) Increasing (7.3%) and (iv) Decreasing (6.9%) trajectories. The Increasing group, in which females were a slight majority (53.2%), showed dramatic increases in SCDC scores during adolescence, accompanied by escalating internalising and externalising difficulties. Two-thirds (63.6%) of the Decreasing group were male.
Conclusions

Clinicians should note that for some young people autism-trait-like social difficulties first emerge during adolescence accompanied by problems with mood, anxiety, conduct and attention. A converse, majority-male group shows decreasing social difficulties during adolescence.

Abstract

Understanding the role of the medial temporal lobe (MTL) in learning and memory is an important problem in cognitive neuroscience. Memory and learning processes that depend on the function of the MTL and related diencephalic structures (e.g., the anterior and mediodorsal thalamic nuclei) are defined as declarative. We have studied the MTL activity as indicated by regional cerebral blood flow with positron emission tomography and statistical parametric mapping during recall of abstract designs in a less practiced memory state as well as in a well-practiced (well-encoded) memory state. The results showed an increased activity of the MTL bilaterally (including parahippocampal gyrus extending into hippocampus proper, as well as anterior lingual and anterior fusiform gyri) during retrieval in the less practiced memory state compared to the well-practiced memory state, indicating a dynamic role of the MTL in retrieval during the learning processes. The results also showed that the activation of the MTL decreases as the subjects learn to draw abstract designs from memory, indicating a changing role of the MTL during recall in the earlier stages of acquisition compared to the well-encoded declarative memory state.

Abstract

In the present PET study we explore some functional aspects of the interaction between attentional/control processes and learning/memory processes. The network of brain regions supporting recall of abstract designs were studied in a less practiced and in a well practiced state. The results indicate that automaticity, i.e., a decreased dependence on attentional and working memory resources, develops as a consequence of practice. This corresponds to the practice related decreases of activity in the prefrontal, anterior cingulate, and posterior parietal regions. In addition, the activity of the medial temporal regions decreased as a function of practice. This indicates an inverse relation between the strength of encoding and the activation of the MTL during retrieval. Furthermore, the pattern of practice related increases in the auditory, posterior insular-opercular extending into perisylvian supra marginal region, and the right mid occipito-temporal region, may reflect a lower degree of inhibitory attentional modulation of task irrelevant processing and more fully developed representations of the abstract designs, respectively. We also suggest that free recall is dependent on bilateral prefrontal processing, in particular non-automatic free recall. The present results cofirm previous functional neuroimaging studies of memory retrieval indicating that recall is subserved by a network of interacting brain regions. Furthermore, the results indicate that some components of the neural network subserving free recall may have a dynamic role and that there is a functional restructuring of the information processing networks during the learning process.

Abstract

Recent event-related FMRI studies indicate that the prefrontal (PFC) and the medial temporal lobe (MTL) regions are more active during effective encoding than during ineffective encoding. The within-subject design and the use of well-educated young college students in these studies makes it important to replicate these results in other study populations. In this PET study, we used an auditory word-pair association cued-recall paradigm and investigated a group of healthy upper middle-aged/older illiterate women. We observed a positive correlation between cued-recall success and the regional cerebral blood flow of the left inferior PFC (BA 47) and the MTLs. Specifically, we used the cuedrecall success as a covariate in a general linear model and the results confirmed that the left inferior PFC and the MTLare more active during effective encoding than during ineffective encoding. These effects were observed during encoding of both semantically and phonologically related word pairs, indicating that these effects are robust in the studied population, that is, reproducible within group. These results generalize the results of Brewer et al. (1998, Science 281, 1185– 1187) and Wagner et al. (1998, Science 281, 1188–1191) to an upper middle aged/older illiterate population. In addition, the present study indicates that effective relational encoding correlates positively with the activity of the anterior medial temporal lobe regions.

Abstract

A fundamental problem in the study of learning is that learning-related changes may be confounded by nonspecific time effects. There are several strategies for handling this problem. This problem may be of greater significance in functional magnetic resonance imaging (fMRI) compared to positron emission tomography (PET). Using the general linear model, we describe, compare, and discuss two approaches for separating learning-related from nonspecific time effects. The first approach makes assumptions on the general behavior of nonspecific effects and explicitly models these effects, i.e., nonspecific time effects are incorporated as a linear or nonlinear confounding covariate in the statistical model. The second strategy makes no a priori assumption concerning the form of nonspecific time effects, but implicitly controls for nonspecific effects using an interaction approach, i.e., learning effects are assessed with an interaction contrast. The two approaches depend on specific assumptions and have specific limitations. With certain experimental designs, both approaches may be used and the results compared, lending particular support to effects that are independent of the method used. A third and perhaps better approach that sometimes may be practically unfeasible is to use a completely temporally balanced experimental design. The choice of approach may be of particular importance when learning related effects are studied with fMRI.

Abstract

The objective of this study was to investigate the central processing of dynamic mechanical allodynia in patients with mononeuropathy. Regional cerebral bloodflow, as an indicator of neuronal activity, was measured with positron emission tomography. Paired comparisons were made between three different states; rest, allodynia during brushing the painful skin area, and brushing of the homologous contralateral area. Bilateral activations were observed in the primary somatosensory cortex (S1) and the secondary somatosensory cortex (S2) during allodynia compared to rest. The S1 activation contralateral to the site of the stimulus was more expressed during allodynia than during innocuous touch. Significant activations of the contralateral posterior parietal cortex, the periaqueductal gray (PAG), the thalamus bilaterally and motor areas were also observed in the allodynic state compared to both non-allodynic states. In the anterior cingulate cortex (ACC) there was only a suggested activation when the allodynic state was compared with the non-allodynic states. In order to account for the individual variability in the intensity of allodynia and ongoing spontaneous pain, rCBF was regressed on the individually reported pain intensity, and significant covariations were observed in the ACC and the right anterior insula. Significantly decreased regional blood flow was observed bilaterally in the medial and lateral temporal lobe as well as in the occipital and posterior cingulate cortices when the allodynic state was compared to the non-painful conditions. This finding is consistent with previous studies suggesting attentional modulation and a central coping strategy for known and expected painful stimuli. Involvement of the medial pain system has previously been reported in patients with mononeuropathy during ongoing spontaneous pain. This study reveals a bilateral activation of the lateral pain system as well as involvement of the medial pain system during dynamic mechanical allodynia in patients with mononeuropathy.

Abstract

Lesion-symptom mapping (LSM) studies have revealed brain areas critical for naming, typically finding significant associations between damage to left temporal, inferior parietal, and inferior fontal regions and impoverished naming performance. However, specific subregions found in the available literature vary. Hence, the aim of this study was to perform a systematic review and meta-analysis of published lesion-based findings, obtained from studies with unique cohorts investigating brain areas critical for accuracy in naming in stroke patients at least 1 month post-onset. An anatomic likelihood estimation (ALE) meta-analysis of these LSM studies was performed. Ten papers entered the ALE meta-analysis, with similar lesion coverage over left temporal and left inferior frontal areas. This small number is a major limitation of the present study. Clusters were found in left anterior temporal lobe, posterior temporal lobe extending into inferior parietal areas, in line with the arcuate fasciculus, and in pre- and postcentral gyri and middle frontal gyrus. No clusters were found in left inferior frontal gyrus. These results were further substantiated by examining five naming studies that investigated performance beyond global accuracy, corroborating the ALE meta-analysis results. The present review and meta-analysis highlight the involvement of left temporal and inferior parietal cortices in naming, and of mid to posterior portions of the temporal lobe in particular in conceptual-lexical retrieval for speaking.

Abstract

In this study data from the first six months of 12 children s multiword speech were used to test the validity of Valian's (1991) syntactic perfor-mance-limitation account and Tomasello s (1992) verb-island account of early multiword speech with particular reference to the development of the English verb category. The results provide evidence for appropriate use of verb morphology, auxiliary verb structures, pronoun case marking, and SVO word order from quite early in development. However, they also demonstrate a great deal of lexical specificity in the children's use of these systems, evidenced by a lack of overlap in the verbs to which different morphological markers were applied, a lack of overlap in the verbs with which different auxiliary verbs were used, a disproportionate use of the first person singular nominative pronoun I, and a lack of overlap in the lexical items that served as the subjects and direct objects of transitive verbs. These findings raise problems for both a syntactic performance-limitation account and a strong verb-island account of the data and suggest the need to develop a more general lexiealist account of early multiword speech that explains why some words come to function as "islands" of organization in the child's grammar and others do not.

Abstract

In this study we test a number of different claims about the nature of stylistic variation at the “single-word” stage by examining the relation between variation in early vocabulary composition, variation in early language use, and variation in the structural and functional propreties of mothers' child-directed speech. Maternal-report and observational data were collected for 26 children at 10, 50, and 100 words, These were then correlated with a variety of different measures of maternal speech at 10 words, The results show substantial variation in the percentage of common nouns and unanalyzed phrases in children's vocabularies, and singficant relations between this variation and the way in which language is used by the child. They also reveal singficant relations between the way in whch mothers use language at 10 words and the way in chich their children use language at 50 words and between certain formal properties of mothers speech at 10 words and the percentage of common nouns and unanalyzed phrases in children's early vocabularies, However, most of these relations desappear when an attempt is made to control for ossible effects of the child on the mother at Time 1. The exception is a singficant negative correlation between mothers tendency to produce speech that illustrates word boundaries and the percentage of unanalyzed phrases at 50 and 100 words. This suggests that mothers whose sprech provides the child with information about where new words begin and end tend to have children with few unanalyzed. phrases in their early vocabularies.

Abstract

This study investigated characteristics of motor cortex activation and response generation in Parkinson's disease with measures of electrocortical activity (lateralized readiness potential [LRP]), electromyographic activity (EMG), and isometric force in a noise-compatibility task. When presented with stimuli consisting of incompatible target and distracter elements asking for responses of opposite hands, patients were less able than control subjects to suppress activation of the motor cortex controlling the wrong response hand. This was manifested in the pattern of reaction times and in an incorrect lateralization of the LRP. Onset latency and rise time of the LRP did not differ between patients and control subjects, but EMG and response force developed more slowly in patients. Moreover, in patients but not in control subjects, the rate of development of EMG and response force decreased as reaction time increased. We hypothesize that this dissociation between electrocortical activity and peripheral measures in Parkinson's disease is the result of changes in motor cortex function that alter the relation between signal-related and movement-related neural activity in the motor cortex. In the LRP, this altered balance may obscure an abnormal development of movement-related neural activity.

Abstract

Neuron models with explicit dendritic dynamics have shed light on mechanisms for coincidence detection, pathway selection and temporal filtering. However, it is still unclear which morphological and physiological features are required to capture these phenomena. In this work, we introduce the Tripod neuron model and propose a minimal structural reduction of the dendritic tree that is able to reproduce these computations. The Tripod is a three-compartment model consisting of two segregated passive dendrites and a somatic compartment modelled as an adaptive, exponential integrate-and-fire neuron. It incorporates dendritic geometry, membrane physiology and receptor dynamics as measured in human pyramidal cells. We characterize the response of the Tripod to glutamatergic and GABAergic inputs and identify parameters that support supra-linear integration, coincidence-detection and pathway-specific gating through shunting inhibition. Following NMDA spikes, the Tripod neuron generates plateau potentials whose duration depends on the dendritic length and the strength of synaptic input. When fitted with distal compartments, the Tripod encodes previous activity into a dendritic depolarized state. This dendritic memory allows the neuron to perform temporal binding, and we show that it solves transition and sequence detection tasks on which a single-compartment model fails. Thus, the Tripod can account for dendritic computations previously explained only with more detailed neuron models or neural networks. Due to its simplicity, the Tripod neuron can be used efficiently in simulations of larger cortical circuits.

Abstract

Human communication involves the process of translating intentions into communicative actions. But how exactly do our intentions surface in the visible communicative behavior we display? Here we focus on pointing gestures, a fundamental building block of everyday communication, and investigate whether and how different types of underlying intent modulate the kinematics of the pointing hand and the brain activity preceding the gestural movement. In a dynamic virtual reality environment, participants pointed at a referent to either share attention with their addressee, inform their addressee, or get their addressee to perform an action. Behaviorally, it was observed that these different underlying intentions modulated how long participants kept their arm and finger still, both prior to starting the movement and when keeping their pointing hand in apex position. In early planning stages, a neurophysiological distinction was observed between a gesture that is used to share attitudes and knowledge with another person versus a gesture that mainly uses that person as a means to perform an action. Together, these findings suggest that our intentions influence our actions from the earliest neurophysiological planning stages to the kinematic endpoint of the movement itself.

Abstract

How did rhythm originate in humans, and other species? One cross-cultural universal, frequently found in human music, is isochrony: when note onsets repeat regularly like the ticking of a clock. Another universal consists in synchrony (e.g. when individuals coordinate their notes so that they are sung at the same time). An approach to biomusicology focuses on similarities and differences across species, trying to build phylogenies of musical traits. Here we test for the presence of, and a link between, isochrony and synchrony in a non-human animal. We focus on the songs of one of the few singing primates, the lar gibbon (Hylobates lar), extracting temporal features from their solo songs and duets. We show that another ape exhibits one rhythmic feature at the core of human musicality: isochrony. We show that an enhanced call rate overall boosts isochrony, suggesting that respiratory physiological constraints play a role in determining the song's rhythmic structure. However, call rate alone cannot explain the flexible isochrony we witness. Isochrony is plastic and modulated depending on the context of emission: gibbons are more isochronous when duetting than singing solo. We present evidence for rhythmic interaction: we find statistical causality between one individual's note onsets and the co-singer's onsets, and a higher than chance degree of synchrony in the duets. Finally, we find a sex-specific trade-off between individual isochrony and synchrony. Gibbon's plasticity for isochrony and rhythmic overlap may suggest a potential shared selective pressure for interactive vocal displays in singing primates. This pressure may have convergently shaped human and gibbon musicality while acting on a common neural primate substrate. Beyond humans, singing primates are promising models to understand how music and, specifically, a sense of rhythm originated in the primate phylogeny.

Abstract

What is language and who or what can be said to have it? In this essay we consider this question in the context of interactions with non-humans, specifically: animals and computers. While perhaps an odd pairing at first glance, here we argue that these domains can offer contrasting perspectives through which we can explore and reimagine language. The interactions between humans and animals, as well as between humans and computers, reveal both the essence and the boundaries of language: from examining the role of sequence and contingency in human-animal interaction, to unravelling the challenges of natural interactions with “smart” speakers and language models. By bringing together disparate fields around foundational questions, we push the boundaries of linguistic inquiry and uncover new insights into what language is and how it functions in diverse non-humanexclusive contexts.

Abstract

Purpose

To perform a scoping review to investigate the psychosocial impact of having an altered facial expression in five neurological diseases.
Methods

A systematic literature search was performed. Studies were on Bell’s palsy, facioscapulohumeral muscular dystrophy (FSHD), Moebius syndrome, myotonic dystrophy type 1, or Parkinson’s disease patients; had a focus on altered facial expression; and had any form of psychosocial outcome measure. Data extraction focused on psychosocial outcomes.
Results

Bell’s palsy, myotonic dystrophy type 1, and Parkinson’s disease patients more often experienced some degree of psychosocial distress than healthy controls. In FSHD, facial weakness negatively influenced communication and was experienced as a burden. The psychosocial distress applied especially to women (Bell’s palsy and Parkinson’s disease), and patients with more severely altered facial expression (Bell’s palsy), but not for Moebius syndrome patients. Furthermore, Parkinson’s disease patients with more pronounced hypomimia were perceived more negatively by observers. Various strategies were reported to compensate for altered facial expression.
Conclusions

This review showed that patients with altered facial expression in four of five included neurological diseases had reduced psychosocial functioning. Future research recommendations include studies on observers’ judgements of patients during social interactions and on the effectiveness of compensation strategies in enhancing psychosocial functioning.
Implications for rehabilitation

Negative effects of altered facial expression on psychosocial functioning are common and more abundant in women and in more severely affected patients with various neurological disorders.

Health care professionals should be alert to psychosocial distress in patients with altered facial expression.

Learning of compensatory strategies could be a beneficial therapy for patients with psychosocial distress due to an altered facial expression.

Abstract

Humans are unique in their sophisticated culture and societal structures, their complex languages, and their extensive tool use. According to the human self-domestication hypothesis, this unique set of traits may be the result of an evolutionary process of self-induced domestication, in which humans evolved to be less aggressive and more cooperative. However, the only other species that has been argued to be self-domesticated besides humans so far is bonobos, resulting in a narrow scope for investigating this theory limited to the primate order. Here, we propose an animal model for studying self-domestication: the elephant. First, we support our hypothesis with an extensive cross-species comparison, which suggests that elephants indeed exhibit many of the features associated with self-domestication (e.g., reduced aggression, increased prosociality, extended juvenile period, increased playfulness, socially regulated cortisol levels, and complex vocal behavior). Next, we present genetic evidence to reinforce our proposal, showing that genes positively selected in elephants are enriched in pathways associated with domestication traits and include several candidate genes previously associated with domestication. We also discuss several explanations for what may have triggered a self-domestication process in the elephant lineage. Our findings support the idea that elephants, like humans and bonobos, may be self-domesticated. Since the most recent common ancestor of humans and elephants is likely the most recent common ancestor of all placental mammals, our findings have important implications for convergent evolution beyond the primate taxa, and constitute an important advance toward understanding how and why self-domestication shaped humans’ unique cultural niche.

Abstract

Cortical asymmetry is a ubiquitous feature of brain organization that is altered in neurodevelopmental disorders and aging. Achieving consensus on cortical asymmetries in humans is necessary to uncover the genetic-developmental mechanisms that shape them and factors moderating cortical lateralization. Here, we delineate population-level asymmetry in cortical thickness and surface area vertex-wise in 7 datasets and chart asymmetry trajectories across life (4-89 years; observations = 3937; 70% longitudinal). We reveal asymmetry interrelationships, heritability, and test associations in UK Biobank (N=∼37,500). Cortical asymmetry was robust across datasets. Whereas areal asymmetry is predominantly stable across life, thickness asymmetry grows in development and declines in aging. Areal asymmetry correlates in specific regions, whereas thickness asymmetry is globally interrelated across cortex and suggests high directional variability in global thickness lateralization. Areal asymmetry is moderately heritable (max h2SNP ∼19%), and phenotypic correlations are reflected by high genetic correlations, whereas heritability of thickness asymmetry is low. Finally, we detected an asymmetry association with cognition and confirm recently-reported handedness links. Results suggest areal asymmetry is developmentally stable and arises in early life, whereas developmental changes in thickness asymmetry may lead to directional variability of global thickness lateralization. Our results bear enough reproducibility to serve as a standard for future brain asymmetry studies.

Abstract

In a recent series of papers, Caramazza and Miozzo [Caramazza, A., 1997. How many levels of processing are there in lexical access? Cognitive Neuropsychology 14, 177-208; Caramazza, A., Miozzo, M., 1997. The relation between syntactic and phonological knowledge in lexical access: evidence from the 'tip-of-the-tongue' phenomenon. Cognition 64, 309-343; Miozzo, M., Caramazza, A., 1997. On knowing the auxiliary of a verb that cannot be named: evidence for the independence of grammatical and phonological aspects of lexical knowledge. Journal of Cognitive Neuropsychology 9, 160-166] argued against the lemma/lexeme distinction made in many models of lexical access in speaking, including our network model [Roelofs, A., 1992. A spreading-activation theory of lemma retrieval in speaking. Cognition 42, 107-142; Levelt, W.J.M., Roelofs, A., Meyer, A.S., 1998. A theory of lexical access in speech production. Behavioral and Brain Sciences, (in press)]. Their case was based on the observations that grammatical class deficits of brain-damaged patients and semantic errors may be restricted to either spoken or written forms and that the grammatical gender of a word and information about its form can be independently available in tip-of-the-tongue stales (TOTs). In this paper, we argue that though our model is about speaking, not taking position on writing, extensions to writing are possible that are compatible with the evidence from aphasia and speech errors. Furthermore, our model does not predict a dependency between gender and form retrieval in TOTs. Finally, we argue that Caramazza and Miozzo have not accounted for important parts of the evidence motivating the lemma/lexeme distinction, such as word frequency effects in homophone production, the strict ordering of gender and pho neme access in LRP data, and the chronometric and speech error evidence for the production of complex morphology.

Abstract

According to most models of speech production, the planning of spoken words involves the independent retrieval of segments and metrical frames followed by segment-to-frame association. In some models, the metrical frame includes a specification of the number and ordering of consonants and vowels, but in the word-form encoding by activation and verification (WEAVER) model (A. Roelofs, 1997), the frame specifies only the stress pattern across syllables. In 6 implicit priming experiments, on each trial, participants produced 1 word out of a small set as quickly as possible. In homogeneous sets, the response words shared word-initial segments, whereas in heterogeneous sets, they did not. Priming effects from shared segments depended on all response words having the same number of syllables and stress pattern, but not on their having the same number of consonants and vowels. No priming occurred when the response words had only the same metrical frame but shared no segments. Computer simulations demonstrated that WEAVER accounts for the findings.

Abstract

This article reports 7 experiments investigating whether utterances are planned in a parallel or rightward incremental fashion during language production. The experiments examined the role of linear order, length, frequency, and repetition in producing Dutch verb–particle combinations. On each trial, participants produced 1 utterance out of a set of 3 as quickly as possible. The responses shared part of their form or not. For particle-initial infinitives, facilitation was obtained when the responses shared the particle but not when they shared the verb. For verb-initial imperatives, however, facilitation was obtained for the verbs but not for the particles. The facilitation increased with length, decreased with frequency, and was independent of repetition. A simple rightward incremental model accounts quantitatively for the results.

Abstract

Lexical access in speaking consists of two major steps: lemma retrieval and word-form encoding. In Roelofs (Roelofs, A. 1992a. Cognition 42. 107-142; Roelofs. A. 1993. Cognition 47, 59-87.), I described a model of lemma retrieval. The present paper extends this work by presenting a comprehensive model of the second access step, word-form encoding. The model is called WEAVER (Word-form Encoding by Activation and VERification). Unlike other models of word-form generation, WEAVER is able to provide accounts of response time data, particularly from the picture-word interference paradigm and the implicit priming paradigm. Its key features are (1) retrieval by spreading activation, (2) verification of activated information by a production rule, (3) a rightward incremental construction of phonological representations using a principle of active syllabification, syllables are constructed on the fly rather than stored with lexical items, (4) active competitive selection of syllabic motor programs using a mathematical formalism that generates response times and (5) the association of phonological speech errors with the selection of syllabic motor programs due to the failure of verification.

Abstract

The study of the brains’ oscillatory activity has been a standard technique to gain insights into human neurocognition for a relatively long time. However, as a complementary analysis to ERPs, only very recently has it been utilized to study bilingualism and its neural underpinnings. Here, we provide a theoretical and methodological starter for scientists in the (psycho)linguistics and neurocognition of bilingualism field(s) to understand the bases and applications of this analytical tool. Towards this goal, we provide a description of the characteristics of the human neural (and its oscillatory) signal, followed by an in-depth description of various types of EEG oscillatory analyses, supplemented by figures and relevant examples. We then utilize the scant, yet emergent, literature on neural oscillations and bilingualism to highlight the potential of how analyzing neural oscillations can advance our understanding of the (psycho)linguistic and neurocognitive understanding of bilingualism.

Abstract

Prosociality and cooperation are key to what makes us human. But different cultural norms can shape our evolved capacities for interaction, leading to differences in social relations. How people share resources has been found to vary across cultures, particularly when stakes are high and when interactions are anonymous. Here we examine prosocial behavior among familiars (both kin and non-kin) in eight cultures on five continents, using video recordings of spontaneous requests for immediate, low-cost assistance (e.g., to pass a utensil). We find that, at the smallest scale of human interaction, prosocial behavior follows cross-culturally shared principles: requests for assistance are very frequent and mostly successful; and when people decline to give help, they normally give a reason. Although there are differences in the rates at which such requests are ignored, or require verbal acceptance, cultural variation is limited, pointing to a common foundation for everyday cooperation around the world.

Abstract

The past few years have seen a surge of interest in using machine learning (ML) methods for studying the behavior of nonhuman animals (hereafter “animals”) (1). A topic that has attracted particular attention is the decoding of animal communication systems using deep learning and other approaches (2). Now is the time to tackle challenges concerning data availability, model validation, and research ethics, and to embrace opportunities for building collaborations across disciplines and initiatives.

Abstract

Prediction is often regarded as an integral aspect of incremental language comprehension, but little is known about the cognitive architectures and mechanisms that support it. We review studies showing that listeners and readers use all manner of contextual information to generate multifaceted predictions about upcoming input. The nature of these predictions may vary between individuals owing to differences in language experience, among other factors. We then turn to unresolved questions which may guide the search for the underlying mechanisms. (i) Is prediction essential to language processing or an optional strategy? (ii) Are predictions generated from within the language system or by domain-general processes? (iii) What is the relationship between prediction and memory? (iv) Does prediction in comprehension require simulation via the production system? We discuss promising directions for making progress in answering these questions and for developing a mechanistic understanding of prediction in language.

Abstract

Purpose: To determine the disease pathogenesis associated with the frequent ABCA4 variant c.5714+5G>A (p.[=,Glu1863Leufs*33]).

Methods: Patient-derived photoreceptor precursor cells were generated to analyze the effect of c.5714+5G>A on splicing and perform a quantitative analysis of c.5714+5G>A products. Patients with c.5714+5G>A in trans with a null allele (i.e., c.5714+5G>A patients; n = 7) were compared with patients with two null alleles (i.e., double null patients; n = 11); with a special attention to the degree of RPE atrophy (area of definitely decreased autofluorescence and the degree of photoreceptor impairment (outer nuclear layer thickness and pattern electroretinography amplitude).

Results: RT-PCR of mRNA from patient-derived photoreceptor precursor cells showed exon 40 and exon 39/40 deletion products, as well as the normal transcript. Quantification of products showed 52.4% normal and 47.6% mutant ABCA4 mRNA. Clinically, c.5714+5G>A patients displayed significantly better structural and functional preservation of photoreceptors (thicker outer nuclear layer, presence of tubulations, higher pattern electroretinography amplitude) than double null patients with similar degrees of RPE loss, whereas double null patients exhibited signs of extensive photoreceptor ,damage even in the areas with preserved RPE.

Conclusions: The prototypical STGD1 sequence of events of primary RPE and secondary photoreceptor damage is congruous with c.5714+5G>A, but not the double null genotype, which implies different and genotype-dependent disease mechanisms. We hypothesize that the relative photoreceptor sparing in c.5714+5G>A patients results from the remaining function of the ABCA4 transporter originating from the normally spliced product, possibly by decreasing the direct bisretinoid toxicity on photoreceptor membranes.

Abstract

Previous studies have demonstrated that context manipulations by semantic blocking and category priming can, under particular design conditions, give rise to semantic facilitation effects. The interpretation of semantic facilitation effects is controversial in the word production literature; perceptual accounts propose that contextually facilitated object recognition may underlie facilitation effects. The present study tested this notion. We investigated the difficulty of object recognition in a semantic blocking and a category priming task. We presented all pictures in gradually de-blurring image sequences and measured the de-blurring level that first allowed for correct object naming as an indicator of the perceptual demands of object recognition. Based on object recognition models assuming a temporal progression from coarse- to fine-grained visual processing, we reasoned that the lower the required level of detail, the more efficient the recognition processes. The results demonstrate that categorically related contexts reduce the level of visual detail required for object naming compared to unrelated contexts, with this effect being most pronounced for shape-distinctive objects and in contexts providing explicit category cues. We propose a top-down explanation based on target predictability of the observed effects. Implications of the recognition effects based on target predictability for the interpretation of context effects observed in latencies are discussed.

Abstract

How environmental factors shape patterns of biotic diversity in tropical ecosystems is an active field of research, but studies examining the possibility of ecological speciation in terrestrial tropical ecosystems are scarce. We use the isolated rainforest herpetofauna on the Montagne d'Ambre (Amber Mountain) massif in northern Madagascar as a model to explore elevational divergence at the level of populations and communities. Based on intensive sampling and DNA barcoding of amphibians and reptiles along a transect ranging from ca. 470–1470 m above sea level (a.s.l.), we assessed a main peak in species richness at an elevation of ca. 1000 m a.s.l. with 41 species. The proportion of local endemics was highest (about 1/3) at elevations >1100 m a.s.l. Two species of chameleons (Brookesia tuberculata, Calumma linotum) and two species of frogs (Mantidactylus bellyi, M. ambony) studied in depth by newly developed microsatellite markers showed genetic divergence up the slope of the mountain, some quite strong, others very weak, but in each case with genetic breaks between 1100 and 1270 m a.s.l. Genetic clusters were found in transect sections significantly differing in bioclimate and herpetological community composition. A decrease in body size was detected in several species with increasing elevation. The studied rainforest amphibians and reptiles show concordant population genetic differentiation across elevation along with morphological and niche differentiation. Whether this parapatric or microallopatric differentiation will suffice for the completion of speciation is, however, unclear, and available phylogeographic evidence rather suggests that a complex interplay between ecological and allopatric divergence processes is involved in generating the extraordinary species diversity of Madagascar's biota. Our study reveals concordant patterns of diversification among main elevational bands, but suggests that these adaptational processes are only part of the complex of processes leading to species formation, among which geographical isolation is probably also important.

Abstract

Left–right asymmetry is an important organizing feature of the healthy brain that may be altered in schizophrenia, but most studies have used relatively small samples and heterogeneous approaches, resulting in equivocal findings. We carried out the largest case–control study of structural brain asymmetries in schizophrenia, with MRI data from 5,080 affected individuals and 6,015 controls across 46 datasets, using a single image analysis protocol. Asymmetry indexes were calculated for global and regional cortical thickness, surface area, and subcortical volume measures. Differences of asymmetry were calculated between affected individuals and controls per dataset, and effect sizes were meta-analyzed across datasets. Small average case–control differences were observed for thickness asymmetries of the rostral anterior cingulate and the middle temporal gyrus, both driven by thinner left-hemispheric cortices in schizophrenia. Analyses of these asymmetries with respect to the use of antipsychotic medication and other clinical variables did not show any significant associations. Assessment of age- and sex-specific effects revealed a stronger average leftward asymmetry of pallidum volume between older cases and controls. Case–control differences in a multivariate context were assessed in a subset of the data (N = 2,029), which revealed that 7% of the variance across all structural asymmetries was explained by case–control status. Subtle case–control differences of brain macrostructural asymmetry may reflect differences at the molecular, cytoarchitectonic, or circuit levels that have functional relevance for the disorder. Reduced left middle temporal cortical thickness is consistent with altered left-hemisphere language network organization in schizophrenia.

Abstract

To investigate the role of the syllable in Dutch speech production, five experiments were carried out to examine the effect of visually masked syllable primes on the naming latencies for written words and pictures. Targets had clear syllable boundaries and began with a CV syllable (e.g., ka.no) or a CVC syllable (e.g., kak.tus), or had ambiguous syllable boundaries and began with a CV[C] syllable (e.g., ka[pp]er). In the syllable match condition, bisyllabic Dutch nouns or verbs were preceded by primes that were identical to the target’s first syllable. In the syllable mismatch condition, the prime was either shorter or longer than the target’s first syllable. A neutral condition was also included. None of the experiments showed a syllable priming effect. Instead, all related primes facilitated the naming of the targets. It is concluded that the syllable does not play a role in the process of phonological encoding in Dutch. Because the amount of facilitation increased with increasing overlap between prime and target, the priming effect is accounted for by a segmental overlap hypothesis.

Abstract

A series of experiments was carried out to investigate the syllable affiliation of intervocalic consonants following short vowels, long vowels, and schwa in Dutch. Special interest was paid to words such as letter ['leter] ''id.,'' where a short vowel is followed by a single consonant. On phonological grounds one may predict that the first syllable should always be closed, but earlier psycholinguistic research had shown that speakers tend to leave these syllables open. In our experiments, bisyllabic word forms were presented aurally, and participants produced their syllables in reversed order (Experiments 1 through 5), or repeated the words inserting a pause between the syllables (Experiment 6). The results showed that participants generally closed syllables with a short vowel. However, in a significant number of the cases they produced open short vowel syllables. Syllables containing schwa, like syllables with a long vowel, were hardly ever closed. Word stress, the phonetic quality of the vowel in the first syllable, and the experimental context influenced syllabification. Taken together, the experiments show that native speakers syllabify bisyllabic Dutch nouns in accordance with a small set of prosodic output constraints. To account for the variability of the results, we propose that these constraints differ in their probabilities of being applied.

Abstract

Speakers can use pronouns when their conceptual referents are accessible from the preceding discourse, as in 'The flower is red. It turns blue'. Theories of language production agree that in order to produce a noun semantic, syntactic, and phonological information must be accessed. However, little is known about lexical access to pronouns. In this paper, we propose a model of pronoun access in German. Since the forms of German pronouns depend on the grammatical gender of the nouns they replace, the model claims that speakers must access the syntactic representation of the replaced noun (its lemma) to select a pronoun. In two experiments using the lexical decision during naming paradigm [Levelt, W.J.M., Schriefers, H., Vorberg, D., Meyer, A.S., Pechmann, T., Havinga, J., 1991a. The time course of lexical access in speech production: a study of picture naming. Psychological Review 98, 122-142], we investigated whether lemma access automatically entails the activation of the corresponding word form or whether a word form is only activated when the noun itself is produced, but not when it is replaced by a pronoun. Experiment 1 showed that during pronoun production the phonological form of the replaced noun is activated. Experiment 2 demonstrated that this phonological activation was not a residual of the use of the noun in the preceding sentence. Thus, when a pronoun is produced, the lemma and the phonological form of the replaced noun become reactivated.

Abstract

Recent research in speech production has shown that syntactic structure is reflected in segmental phonology--the application of certain phonological rules of English (e.g., palatalization and alveolar flapping) is inhibited across phrase boundaries. We examined whether such segmental effects can be used in speech perception as cues to syntactic structure, and the relation between the use of these segmental features as syntactic markers in production and perception. Speakers of American English (a dialect in which the above segmental effects occur) could indeed use the segmental cues in syntax perception; speakers of British English (in which the effects do not occur) were unable to make use of them, while speakers of British English who were long-term residents of the United States showed intermediate performance.

Abstract

Frequency tagging has been successfully used to investigate selective stimulus processing in electroencephalography (EEG) or magnetoencephalography (MEG) studies. Recently, new projectors have been developed that allow for frequency tagging at higher frequencies (>60 Hz). This technique, rapid invisible frequency tagging (RIFT), provides two crucial advantages over low-frequency tagging as (i) it leaves low-frequency oscillations unperturbed, and thus open for investigation, and ii) it can render the tagging invisible, resulting in more naturalistic paradigms and a lack of participant awareness. The development of this technique has far-reaching implications as oscillations involved in cognitive processes can be investigated, and potentially manipulated, in a more naturalistic manner.

Abstract

This article discusses how the Trobriand Islanders speak about body and mind. It addresses the following questions: do the linguistic datafit into theories about lexical universals of body-part terminology? Can we make inferences about the Trobrianders' conceptualization of psychological and physical states on the basis of these data? If a Trobriand Islander sees these idioms as external manifestations of inner states, then can we interpret them as a kind of ethnopsychological theory about the body and its role for emotions, knowledge, thought, memory, and so on? Can these idioms be understood as representation of Trobriand ethnopsychological theory?

Abstract

Visiting the Trobriand Islands is advertised as being the highlight of a trip for tourists to Papua New Guinea who want, and can afford, to experience this 'ultimate adventure' with 'expeditionary cruises aboard the luxurious Melanesian Discoverer. The advertisements also promise that the tourists can 'meet the friendly people' and 'observe their unique culture, dances, and art'. During my research in Kaibola and Nuwebila, two neighbouring villages on the northern tip of Kiriwina Island, I studied and analysed the encounters of tourists with Trobriand Islanders, who sing and dance for the Europeans. The analyses of the islanders' tourist performances are based on Erving Goffman's now classic study The Presentation of Self in Everyday Life, which was first published in 1959. In this study Goffmann analyses the structures of social encounters from the perspective of the dramatic performance. The situational context within which the encounter between tourists and Trobriand Islanders takes place frames the tourists as the audience and the Trobriand Islanders as a team of performers. The inherent structure of the parts of the overall performance presented in the two villages can be summarized - within the framework of Goffman's approach - in analogy with the structure of drama. We find parts that constitute the 'exposition', the 'complication', and the 'resolution' of a drama; we even observe an equivalent to the importance of the 'Second Act Curtain' in modern drama theory. Deeper analyses of this encounter show that the motives of the performers and their 'art of impression management' are to control the impression their audience receives in this encounter situation. This analysis reveals that the Trobriand Islanders sell their customers the expected images of what Malinowski (1929) once termed the '...Life of Savages in North-Western Melanesia' in a staged 'illusion'. With the conscious realization of the part they as performers play in this encounter, the Trobriand Islanders are in a position that is superior to that of their audience. Their merchandise or commodity is 'not real', as it is sold 'out of its true cultural context'. It is staged - and thus cannot be taken by any customer whatsoever because it (re)presents just an 'illusion'. The Trobriand Islanders know that neither they nor the core aspects of their culture will suffer any damage within a tourist encounter that is defined by the structure and the kind of their performance. Their pride and self-confidence enable them to bring their superior position into play in their dealings with tourists. With their indigenous humour, they even use this encounter for ridiculing their visitors. It turns out that the encounter is another manifestation of the Trobriand Islanders' self-consciousness, self-confidence, and pride with which they manage to protect core aspects of their cultural identity, while at the same time using and 'selling' parts of their culture as a kind of commodity to tourists.

Abstract

When recognizing spoken words, listeners are confronted by variability in the speech signal caused by talker differences. Previous research has focused on segmental talker variability; less is known about how suprasegmental variability is handled. Here we investigated the use of perceptual learning to deal with between-talker differences in lexical stress. Two groups of participants heard Dutch minimal stress pairs (e.g., VOORnaam vs. voorNAAM, “first name” vs. “respectable”) spoken by two male talkers. Group 1 heard Talker 1 use only F0 to signal stress (intensity and duration values were ambiguous), while Talker 2 used only intensity (F0 and duration were ambiguous). Group 2 heard the reverse talker-cue mappings. After training, participants were tested on words from both talkers containing conflicting stress cues (“mixed items”; e.g., one spoken by Talker 1 with F0 signaling initial stress and intensity signaling final stress). We found that listeners used previously learned information about which talker used which cue to interpret the mixed items. For example, the mixed item described above tended to be interpreted as having initial stress by Group 1 but as having final stress by Group 2. This demonstrates that listeners learn how individual talkers signal stress and use that knowledge in spoken-word recognition.

Abstract

Frontal lobe organisation displays a functional gradient, with overarching processing goals located in parts anterior to more subordinate goals, processed more posteriorly. Functional specialisation for syntax and phonology within language relevant areas has been supported by meta-analyses and reviews, but never directly tested experimentally. We tested for organised functional specialisation by manipulating syntactic case and phonotactics, creating violations at the end of otherwise matched and predictable sentences. Both violations led to increased activation in expected language regions. We observe the clearest signs of a functional gradient for language processing in the medial frontal cortex, where syntactic violations activated a more anterior portion compared to the phonotactic violations. A large overlap of syntactic and phonotactic processing in the left inferior frontal gyrus (LIFG) supports the view that general structured sequence processes are located in this area. These findings are relevant for understanding how sentence processing is implemented in hierarchically organised processing steps in the frontal lobe.

Abstract

White matter tracts form the structural basis of large-scale brain networks. We applied brain-wide tractography to diffusion images from 30,810 adults (U.K. Biobank) and found significant heritability for 90 node-level and 851 edge-level network connectivity measures. Multivariate genome-wide association analyses identified 325 genetic loci, of which 80% had not been previously associated with brain metrics. Enrichment analyses implicated neurodevelopmental processes including neurogenesis, neural differentiation, neural migration, neural projection guidance, and axon development, as well as prenatal brain expression especially in stem cells, astrocytes, microglia, and neurons. The multivariate association profiles implicated 31 loci in connectivity between core regions of the left-hemisphere language network. Polygenic scores for psychiatric, neurological, and behavioral traits also showed significant multivariate associations with structural connectivity, each implicating distinct sets of brain regions with trait-relevant functional profiles. This large-scale mapping study revealed common genetic contributions to variation in the structural connectome of the human brain.

Abstract

Aboriginal languages threatened by speakers poor economic and social conditions; some may survive through support for community development, language maintenance, bilingual education and training of Aboriginal teachers and linguists, and nonAboriginal teachers of Aboriginal and Islander students.

Abstract

Formal language hierarchy describes levels of increasing syntactic complexity (adjacent dependencies, nonadjacent nested, nonadjacent crossed) of which the transcription into a hierarchy of cognitive complexity remains under debate. The cognitive foundations of formal language hierarchy have been contradicted by two types of evidence: First, adjacent dependencies are not easier to learn compared to nonadjacent; second, crossed nonadjacent dependencies may be easier than nested. However, studies providing these findings may have engaged confounds: Repetition monitoring strategies may have accounted for participants’ high performance in nonadjacent dependencies, and linguistic experience may have accounted for the advantage of crossed dependencies. We conducted two artificial grammar learning experiments where we addressed these confounds by manipulating reliance on repetition monitoring and by testing participants inexperienced with crossed dependencies. Results showed relevant differences in learning adjacent versus nonadjacent dependencies and advantages of nested over crossed, suggesting that formal language hierarchy may indeed translate into a hierarchy of cognitive complexity

Abstract

While global patterns of human genetic diversity are increasingly well characterized, the diversity of human languages remains less systematically described. Here, we outline the Grambank database. With over 400,000 data points and 2400 languages, Grambank is the largest comparative grammatical database available. The comprehensiveness of Grambank allows us to quantify the relative effects of genealogical inheritance and geographic proximity on the structural diversity of the world’s languages, evaluate constraints on linguistic diversity, and identify the world’s most unusual languages. An analysis of the consequences of language loss reveals that the reduction in diversity will be strikingly uneven across the major linguistic regions of the world. Without sustained efforts to document and revitalize endangered languages, our linguistic window into human history, cognition, and culture will be seriously fragmented.

Abstract

To understand language, we need to recognize words and combine them into phrases and sentences. During this process, responses to the words themselves are changed. In a step towards understanding how the brain builds sentence structure, the present study concerns the neural readout of this adaptation. We ask whether low-frequency neural readouts associated with words change as a function of being in a sentence. To this end, we analyzed an MEG dataset by Schoffelen et al. (2019) of 102 human participants (51 women) listening to sentences and word lists, the latter lacking any syntactic structure and combinatorial meaning. Using temporal response functions and a cumulative model-fitting approach, we disentangled delta- and theta-band responses to lexical information (word frequency), from responses to sensory- and distributional variables. The results suggest that delta-band responses to words are affected by sentence context in time and space, over and above entropy and surprisal. In both conditions, the word frequency response spanned left temporal and posterior frontal areas; however, the response appeared later in word lists than in sentences. In addition, sentence context determined whether inferior frontal areas were responsive to lexical information. In the theta band, the amplitude was larger in the word list condition around 100 milliseconds in right frontal areas. We conclude that low-frequency responses to words are changed by sentential context. The results of this study speak to how the neural representation of words is affected by structural context, and as such provide insight into how the brain instantiates compositionality in language.

Abstract

The visual world paradigm is one of the most influential paradigms to study real-time language processing. The present study tested whether visual world studies can be moved online, using PCIbex software (Zehr & Schwarz, 2018) and the WebGazer.js algorithm (Papoutsaki et al., 2016) to collect eye-movement data. Experiment 1 was a fixation task in which the participants looked at a fixation cross in multiple positions on the computer screen. Experiment 2 was a web-based replication of a visual world experiment by Dijkgraaf et al. (2017). Firstly, both experiments revealed that the spatial accuracy of the data allowed us to distinguish looks across the four quadrants of the computer screen. This suggest that the spatial resolution of WebGazer.js is fine-grained enough for most visual world experiments (which typically involve a two-by-two quadrant-based set-up of the visual display). Secondly, both experiments revealed a delay of roughly 300 ms in the time course of the eye movements, possibly caused by the internal processing speed of the browser or WebGazer.js. This delay can be problematic in studying questions that require a fine-grained temporal resolution and requires further investigation.

Abstract

Language comprehension involves the derivation of the meaning of sentences by combining the meanings of their parts. In some cases, this can lead to ambiguity. A sentence like Every hiker climbed a hill allows two logical representations: One that specifies that every hiker climbed a different hill and one that specifies that every hiker climbed the same hill. The interpretations of such sentences can be primed: Exposure to a particular reading increases the likelihood that the same reading will be assigned to a subsequent similar sentence. Feiman and Snedeker (2016) observed that such priming is not modulated by overlap of the verb between prime and target. This indicates that mental logical representations specify the compositional structure of the sentence meaning without conceptual meaning content. We conducted a close replication of Feiman and Snedeker’s experiment in Dutch and found no verb-independent priming. Moreover, a comparison with a previous, within-verb priming experiment showed an interaction, suggesting stronger verb-specific than abstract priming. A power analysis revealed that both Feiman and Snedeker’s experiment and our Experiment 1 were underpowered. Therefore, we replicated our Experiment 1, using the sample size guidelines provided by our power analysis. This experiment again showed that priming was stronger if a prime-target pair contained the same verb. Together, our experiments show that logical representation priming is enhanced if the prime and target sentence contain the same verb. This suggests that logical representations specify compositional structure and meaning features in an integrated manner.

Abstract

The present experiment tested the suggestion that human listeners may exploit durational information in speech to parse continuous utterances into words. Listeners were presented with six-syllable unpredictable utterances under noise-masking, and were required to judge between alternative word strings as to which best matched the rhythm of the masked utterances. For each utterance there were four alternative strings: (a) an exact rhythmic and word boundary match, (b) a rhythmic mismatch, and (c) two utterances with the same rhythm as the masked utterance, but different word boundary locations. Listeners were clearly able to perceive the rhythm of the masked utterances: The rhythmic mismatch was chosen significantly less often than any other alternative. Within the three rhythmically matched alternatives, the exact match was chosen significantly more often than either word boundary mismatch. Thus, listeners both perceived speech rhythm and used durational cues effectively to locate the position of word boundaries.

Abstract

A quantitative model of human categorization behavior is proposed, which can be applied to 4-alternative forced-choice categorization data involving two binary classifications. A number of processing dependencies between the two classifications are explicitly formulated, such as the dependence of the location, orientation, and steepness of the class boundary for one classification on the outcome of the other classification. The significance of various types of dependencies can be tested statistically. Analyses of a data set from the literature shows that interesting dependencies in human speech recognition can be uncovered using the model.

Abstract

WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals, and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (N=11), intellectual disability (N=9), epilepsy (N=7) and autism spectrum disorder (N=4). Additional phenotypic features included abnormal growth parameters (N=7), heart anomalies (N=2) and hearing loss (N=2). Three-dimensional protein structures indicate that all the residues affected by these variants are located at the surface of one side of the WDR5 protein. It is predicted that five out of the six amino acid substitutions disrupt interactions of WDR5 with RbBP5 and/or KMT2A/C, as part of the COMPASS (complex proteins associated with Set1) family complexes. Our experimental approaches in Drosophila melanogaster and human cell lines show normal protein expression, localization and protein-protein interactions for all tested variants. These results, together with the clustering of variants in a specific region of WDR5 and the absence of truncating variants so far, suggest that dominant-negative or gain-of-function mechanisms might be at play. All in all, we define a neurodevelopmental disorder associated with missense variants in WDR5 and a broad range of features. This finding highlights the important role of genes encoding COMPASS family proteins in neurodevelopmental disorders.

Abstract

We investigated early electrophysiological responses to spoken English words embedded in neutral sentence frames, using a lexical decision paradigm. As words unfold in time, similar-sounding lexical items compete for recognition within 200 milliseconds after word onset. A small number of studies have previously investigated event-related potentials in this time window in English and French, with results differing in direction of effects as well as component scalp distribution. Investigations of spoken-word recognition in Swedish have reported an early left-frontally distributed event-related potential that increases in amplitude as a function of the probability of a successful lexical match as the word unfolds. Results from the present study indicate that the same process may occur in English: we propose that increased certainty of a ‘word’ response in a lexical decision task is reflected in the amplitude of an early left-anterior brain potential beginning around 150 milliseconds after word onset. This in turn is proposed to be connected to the probabilistically driven activation of possible upcoming word forms.

Abstract

Background: The hypothalamus-pituitary-thyroid axis coordinates brain development and postdevelopmental function. Thyroid hormone (TH) variations, even within the normal range, have been associated with the risk of developing common psychiatric disorders, although the underlying mechanisms remain poorly understood.

Methods: To get new insight into the potentially shared mechanisms underlying thyroid dysfunction and psychiatric disorders, we performed a comprehensive analysis of multiple phenotypic and genotypic databases. We investigated the relationship of thyroid disorders with depression, bipolar disorder (BIP), and anxiety disorders (ANXs) in 497,726 subjects from U.K. Biobank. We subsequently investigated genetic correlations between thyroid disorders, thyrotropin (TSH), and free thyroxine (fT4) levels, with the genome-wide factors that predispose to psychiatric disorders. Finally, the observed global genetic correlations were furthermore pinpointed to specific local genomic regions.

Results: Hypothyroidism was positively associated with an increased risk of major depressive disorder (MDD; OR = 1.31, p = 5.29 × 10−89), BIP (OR = 1.55, p = 0.0038), and ANX (OR = 1.16, p = 6.22 × 10−8). Hyperthyroidism was associated with MDD (OR = 1.11, p = 0.0034) and ANX (OR = 1.34, p = 5.99 × 10−⁶). Genetically, strong coheritability was observed between thyroid disease and both major depressive (rg = 0.17, p = 2.7 × 10−⁴) and ANXs (rg = 0.17, p = 6.7 × 10−⁶). This genetic correlation was particularly strong at the major histocompatibility complex locus on chromosome 6 (p < 10−⁵), but further analysis showed that other parts of the genome also contributed to this global effect. Importantly, neither TSH nor fT4 levels were genetically correlated with mood disorders.

Conclusions: Our findings highlight an underlying association between autoimmune hypothyroidism and mood disorders, which is not mediated through THs and in which autoimmunity plays a prominent role. While these findings could shed new light on the potential ineffectiveness of treating (minor) variations in thyroid function in psychiatric disorders, further research is needed to identify the exact underlying molecular mechanisms.

Abstract

TBR1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (NDD) combining features of autism spectrum disorder (ASD), intellectual disability (ID) and speech delay. TBR1 has been previously shown to interact with a small number of transcription factors and co-factors also involved in NDDs (including CASK, FOXP1/2/4 and BCL11A), suggesting that the wider TBR1 interactome may have a significant bearing on normal and abnormal brain development. Here we have identified approximately 250 putative TBR1-interaction partners by affinity purification coupled to mass spectrometry. As well as known TBR1-interactors such as CASK, the identified partners include transcription factors and chromatin modifiers, along with ASD- and ID-related proteins. Five interaction candidates were independently validated using bioluminescence resonance energy transfer assays. We went on to test the interaction of these candidates with TBR1 protein variants implicated in cases of NDD. The assays uncovered disturbed interactions for NDD-associated variants and identified two distinct protein-binding domains of TBR1 that have essential roles in protein–protein interaction.

Abstract

We present results from cross-modal priming experiments on German participles and noun plurals. The experiments produced parallel results for both inflectional systems. Regular inflection exhibits full priming whereas irregularly inflected word forms show only partial priming: after hearing regularly inflected words (-t participles and -s plurals), lexical decision times on morphologically related word forms (presented visually) were similar to reaction times for a base-line condition in which prime and target were identical, but significantly shorter than in a control condition where prime and target were unrelated. In contrast, prior presentation of irregular words (-n participles and -er plurals) led to significantly longer response times on morphologically related word forms than the prior presentation of the target itself. Hence, there are clear priming differences between regularly and irregularly inflected German words. We compare the findings on German with experimental results on regular and irregular inflection in English and Italian, and discuss theoretical implications for single versus dual-mechanism models of inflection.

Abstract

Statistical learning, the ability to extract regularities from input (e.g., in language), is likely supported by learners’ prior expectations about how component units co-occur. In this study, we investigated how adults’ prior experience with sublexical regularities in their native language influences performance on an empirical language learning task. Forty German-speaking adults completed a speech repetition task in which they repeated eight-syllable sequences from two experimental languages: one containing disyllabic words comprised of frequently occurring German syllable transitions (naturalistic words) and the other containing words made from unattested syllable transitions (non-naturalistic words). The participants demonstrated learning from both naturalistic and non-naturalistic stimuli. However, learning was superior for the naturalistic sequences, indicating that the participants had used their existing distributional knowledge of German to extract the naturalistic words faster and more accurately than the non-naturalistic words. This finding supports theories of statistical learning as a form of chunking, whereby frequently co-occurring units become entrenched in long-term memory.

Abstract

In everyday interactions with one another, speakers not only say things but also do things like offer, complain, reject, and compliment. Through observation, it is possible to see that much of the time people unproblematically understand what others are doing. Research on conversation has further documented how speakers’ word choice, prosody, grammar, and gesture all help others to recognize what actions they are performing. In this study, we rely on spontaneous naturally occurring conversational data where people have trouble making their actions understood to examine what leads to ambiguous actions, bringing together prior research and identifying recurrent types of ambiguity that hinge on different dimensions of social action. We then discuss the range of costs and benefits for social actors when actions are clear versus ambiguous. Finally, we offer a conceptual model of how, at a microlevel, action ascription is done. Actions in interaction are building blocks for social relations; at each turn, an action can strengthen or strain the bond between two individuals. Thus, a unified theory of action ascription at a microlevel is an essential component for broader theories of social action and of how social actions produce, maintain, and revise the social world.

Abstract

Finnish vowel harmony rules require that if the vowel in the first syllable of a word belongs to one of two vowel sets, then all subsequent vowels in that word must belong either to the same set or to a neutral set. A harmony mismatch between two syllables containing vowels from the opposing sets thus signals a likely word boundary. We report five experiments showing that Finnish listeners can exploit this information in an on-line speech segmentation task. Listeners found it easier to detect words likehymyat the end of the nonsense stringpuhymy(where there is a harmony mismatch between the first two syllables) than in the stringpyhymy(where there is no mismatch). There was no such effect, however, when the target words appeared at the beginning of the nonsense string (e.g.,hymypuvshymypy). Stronger harmony effects were found for targets containing front harmony vowels (e.g.,hymy) than for targets containing back harmony vowels (e.g.,paloinkypaloandkupalo). The same pattern of results appeared whether target position within the string was predictable or unpredictable. Harmony mismatch thus appears to provide a useful segmentation cue for the detection of word onsets in Finnish speech.

Abstract

In this study the N400 component of the event-related potential was used to investigate spoken sentence understanding in Broca's and Wernicke's aphasics. The aim of the study was to determine whether spoken sentence comprehension problems in these patients might result from a deficit in the on-line integration of lexical information. Subjects listened to sentences spoken at a normal rate. In half of these sentences, the meaning of the final word of the sentence matched the semantic specifications of the preceding sentence context. In the other half of the sentences, the sentence-final word was anomalous with respect to the preceding sentence context. The N400 was measured to the sentence-final words in both conditions. The results for the aphasic patients (n = 14) were analyzed according to the severity of their comprehension deficit and compared to a group of 12 neurologically unimpaired age-matched controls, as well as a group of 6 nonaphasic patients with a lesion in the right hemisphere. The nonaphasic brain damaged patients and the aphasic patients with a light comprehension deficit (high comprehenders, n = 7) showed an N400 effect that was comparable to that of the neurologically unimpaired subjects. In the aphasic patients with a moderate to severe comprehension deficit (low comprehenders, n = 7), a reduction and delay of the N400 effect was obtained. In addition, the P300 component was measured in a classical oddball paradigm, in which subjects were asked to count infrequent low tones in a random series of high and low tones. No correlation was found between the occurrence of N400 and P300 effects, indicating that changes in the N400 results were related to the patients' language deficit. Overall, the pattern of results was compatible with the idea that aphasic patients with moderate to severe comprehension problems are impaired in the integration of lexical information into a higher order representation of the preceding sentence context.