Publications

Abstract

Aberrant anatomical brain connections in attention-deficit/hyperactivity disorder (ADHD) are reported inconsistently across
diffusion weighted imaging (DWI) studies. Based on a pre-registered protocol (Prospero: CRD42021259192), we searched PubMed,
Ovid, and Web of Knowledge until 26/03/2022 to conduct a systematic review of DWI studies. We performed a quality assessment
based on imaging acquisition, preprocessing, and analysis. Using signed differential mapping, we meta-analyzed a subset of the
retrieved studies amenable to quantitative evidence synthesis, i.e., tract-based spatial statistics (TBSS) studies, in individuals of any
age and, separately, in children, adults, and high-quality datasets. Finally, we conducted meta-regressions to test the effect of age,
sex, and medication-naïvety. We included 129 studies (6739 ADHD participants and 6476 controls), of which 25 TBSS studies
provided peak coordinates for case-control differences in fractional anisotropy (FA)(32 datasets) and 18 in mean diffusivity (MD)(23
datasets). The systematic review highlighted white matter alterations (especially reduced FA) in projection, commissural and
association pathways of individuals with ADHD, which were associated with symptom severity and cognitive deficits. The meta-
analysis showed a consistent reduced FA in the splenium and body of the corpus callosum, extending to the cingulum. Lower FA
was related to older age, and case-control differences did not survive in the pediatric meta-analysis. About 68% of studies were of
low quality, mainly due to acquisitions with non-isotropic voxels or lack of motion correction; and the sensitivity analysis in high-
quality datasets yielded no significant results. Findings suggest prominent alterations in posterior interhemispheric connections
subserving cognitive and motor functions affected in ADHD, although these might be influenced by non-optimal acquisition
parameters/preprocessing. Absence of findings in children may be related to the late development of callosal fibers, which may
enhance case-control differences in adulthood. Clinicodemographic and methodological differences were major barriers to
consistency and comparability among studies, and should be addressed in future investigations.

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

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

We present two simple arguments for the potential relevance of a neurobiological analogue of the finite-state architecture. The first assumes the classical cognitive framework, is wellknown, and is based on the assumption that the brain is finite with respect to its memory organization. The second is formulated within a general dynamical systems framework and is based on the assumption that the brain sustains some level of noise and/or does not utilize infinite precision processing. We briefly review the classical cognitive framework based on Church–Turing computability and non-classical approaches based on analog processing in dynamical systems. We conclude that the dynamical neurobiological analogue of the finitestate architecture appears to be relevant, at least at an implementational level, for cognitive brain systems

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

One of the most influential recent accounts of pronoun case-marking errors in young children's speech is Schütze & Wexler's (1996) Agreement/Tense Omission Model (ATOM). The ATOM predicts that the rate of agreeing verbs with non-nominative subjects will be so low that such errors can be reasonably disregarded as noise in the data. The present study tests this prediction on data from 12 children between the ages of 1;8.22 and 3;0.10. This is done, first, by identifying children who produced a reasonably large number of non-nominative 3psg subjects; second, by estimating the expected rate of agreeing verbs with masculine and feminine non-nominative subjects in these children's speech; and, third, by examining the actual rate at which agreeing verb forms occurred with non-nominative subjects in those areas of the data in which the expected error rate was significantly greater than 10%. The results show, first, that only three of the children produced enough non-nominative subjects to allow a reasonable test of the ATOM to be made; second, that for all three of these children, the only area of the data in which the expected frequency of agreeing verbs with non-nominative subjects was significantly greater than 10% was their use of feminine case-marked subjects; and third, that for all three of these children, the rate of agreeing verbs with non-nominative feminine subjects was over 30%. These results raise serious doubts about the claim that children's use of non-nominative subjects can be explained in terms of AGR optionality, and suggest the need for a model of pronoun case-marking error that can explain why some children produce agreeing verb forms with non-nominative subjects as often as they do.

Abstract

This study investigates the relationship between word repetition, predictability from neighbouring words, and articulatory reduction in Dutch. For the seven most frequent words ending in the adjectival suffix -lijk, 40 occurrences were randomly selected from a large database of face-to-face conversations. Analysis of the selected tokens showed that the degree of articulatory reduction (as measured by duration and number of realized segments) was affected by repetition, predictability from the previous word and predictability from the following word. Interestingly, not all of these effects were significant across morphemes and target words. Repetition effects were limited to suffixes, while effects of predictability from the previous word were restricted to the stems of two of the seven target words. Predictability from the following word affected the stems of all target words equally, but not all suffixes. The implications of these findings for models of speech production are discussed.

Abstract

This study investigates the effects of lexical frequency on the durational reduction of morphologically complex words in spoken Dutch. The hypothesis that high-frequency words are more reduced than low-frequency words was tested by comparing the durations of affixes occurring in different carrier words. Four Dutch affixes were investigated, each occurring in a large number of words with different frequencies. The materials came from a large database of face-to-face conversations. For each word containing a target affix, one token was randomly selected for acoustic analysis. Measurements were made of the duration of the affix as a whole and the durations of the individual segments in the affix. For three of the four affixes, a higher frequency of the carrier word led to shorter realizations of the affix as a whole, individual segments in the affix, or both. Other relevant factors were the sex and age of the speaker, segmental context, and speech rate. To accommodate for these findings, models of speech production should allow word frequency to affect the acoustic realizations of lower-level units, such as individual speech sounds occurring in affixes.

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

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

It has recently been reported that words containing a multiletter grapheme are processed slower than are words composed of single-letter graphemes (Rastle & Coltheart, 1998; Rey, Jacobs, Schmidt-Weigand, & Ziegler, 1998). In the present study, using a perceptual identification task, we found in Experiment 1 that this graphemic complexity effect can be observed while controlling for multiple print-to-sound associations, indexed by regularity or consistency. In Experiment 2, we obtained cumulative effects of graphemic complexity and regularity. These effects were replicated in Experiment 3 in a naming task. Overall, these results indicate that graphemic complexity and multiple print-to-sound associations effects are independent and should be accounted for in different ways by models of written word processing.

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

Four experiments examined crossmodal versions of the Stroop task in order (1) to look for Stroop asymmetries in color naming, spoken-word naming, and written-word naming and to evaluate the time course of these asymmetries, and (2) to compare these findings to current models of the Stroop effect. Participants named color patches while ignoring spoken color words presented with an onset varying from 300 msec before to 300 msec after the onset of the color (Experiment 1), or they named the spoken words and ignored the colors (Experiment 2). A secondary visual detection task assured that the participants looked at the colors in both tasks. Spoken color words yielded Stroop effects in color naming, but colors did not yield an effect in spoken-word naming at any stimulus onset asynchrony. This asymmetry in effects was obtained with equivalent color- and spoken-word-naming latencies. Written color words yielded a Stroop effect in naming spoken words (Experiment 3), and spoken color words yielded an effect in naming written words (Experiment 4). These results were interpreted as most consistent with an architectural account of the color-word Stroop asymmetry, in contrast with discriminability and pathway strength accounts.

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

Many current generativist theorists suggest that young children possess the grammatical principles of inversion required for question formation but make errors because they find it difficult to learn language-specific rules about how inversion applies. The present study analyzed longitudinal spontaneous sampled data from twelve 2–3-year-old English speaking children and the intensive diary data of 1 child (age 2;7 [years;months] to 2;11) in order to test some of these theories. The results indicated significantly different rates of error use across different auxiliaries. In particular, error rates differed across 2 forms of the same auxiliary subtype (e.g., auxiliary is vs. are), and auxiliary DO and modal auxiliaries attracted significantly higher rates of errors of inversion than other auxiliaries. The authors concluded that current generativist theories might have problems explaining the patterning of errors seen in children's questions, which might be more consistent with a constructivist account of development. However, constructivists need to devise more precise predictions in order to fully explain the acquisition of questions.

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

The structure of relative clauses has attracted considerable attention in recent years, and a number of authors have carried out analyses of the syntax of relativization. In our investigation of syntactic structure and change in New Guinea Tok Pisin, we find that the basic processes involved in relativization have much broader discourse functions, and that relativization is only a special instance of the application of general ‘bracketing’ devices used in the organization of information. Syntactic structure, in this case, can be understood as a component of, and derivative from, discourse structure.

Abstract

Although researchers studying human speech recognition (HSR) and automatic speech recognition (ASR) share a common interest in how information processing systems (human or machine) recognize spoken language, there is little communication between the two disciplines. We suggest that this lack of communication follows largely from the fact that research in these related fields has focused on the mechanics of how speech can be recognized. In Marr's (1982) terms, emphasis has been on the algorithmic and implementational levels rather than on the computational level. In this article, we provide a computational-level analysis of the task of speech recognition, which reveals the close parallels between research concerned with HSR and ASR. We illustrate this relation by presenting a new computational model of human spoken-word recognition, built using techniques from the field of ASR that, in contrast to current existing models of HSR, recognizes words from real speech input.

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

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

Neuronal groups can interact with each other even if they are widely separated. One group might modulate its firing rate or its internal oscillatory synchronization to influence another group. We propose that coherence between two neuronal groups is a mechanism of efficient interaction, because it renders mutual input optimally timed and thereby maximally effective. Modulations of subjects' readiness to respond in a simple reaction-time task were closely correlated with the strength of gamma-band (40 to 70 hertz) coherence between motor cortex and spinal cord neurons. This coherence may contribute to an effective corticospinal interaction and shortened reaction times.

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

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

It is the purpose of the present paper to highlight the figure of Eubulides, a relatively unknown Greek philosopher who lived ±405–330 BC and taught at Megara, not far from Athens. He is mainly known for his four paradoxes (the Liar, the Sorites, the Electra, and the Horns), and for the mutual animosity between him and his younger contemporary Aristotle. The Megarian school of philosophy was one of the main sources of the great Stoic tradition in ancient philosophy. What has never been made explicit in the literature is the importance of the four paradoxes for the study of meaning in natural language: they summarize the whole research programme of 20th century formal or formally oriented semantics, including the problems of vague predicates (Sorites), intensional contexts (Electra), and presuppositions (Horns). One might say that modern formal or formally oriented semantics is essentially an attempt at finding linguistically tenable answers to problems arising in the context of Aristotelian thought. It is a surprising and highly significant fact that a contemporary of Aristotle already spotted the main weaknesses of the Aristotelian paradigm.

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

Dissociations in the ability to produce words of different grammatical categories are well established in neuropsychology but have not been corroborated fully with evidence from brain imaging. Here we report on a PET study designed to reveal the anatomical correlates of grammatical processes involving nouns and verbs. German-speaking subjects were asked to produce either plural and singular nouns, or first-person plural and singular verbs. Verbs, relative to nouns, activated a left frontal cortical network, while the opposite contrast (nouns–verbs) showed greater activation in temporal regions bilaterally. Similar patterns emerged when subjects performed the task with pseudowords used as nouns or as verbs. These results converge with findings from lesion studies and suggest that grammatical category is an important dimension of organization for knowledge of language in the brain.

Abstract

Positron emission tomography was used to investigate two competing hypotheses about the role of the left inferior frontal gyrus (IFG) in word generation. One proposes a domain-specific organization, with neural activation dependent on the type of information being processed, i.e., surface sound structure or semantic. The other proposes a process-specific organization, with activation dependent on processing demands, such as the amount of selection needed to decide between competing lexical alternatives. In a novel word retrieval task, word reconstruction (WR), subjects generated real words from heard non-words by the substitution of either a vowel or consonant. Both types of lexical retrieval, informed by sound structure alone, produced activation within anterior and posterior left IFG regions. Within these regions there was greater activity for consonant WR, which is more difficult and imposes greater processing demands. These results support a process-specific organization of the anterior left IFG.

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

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

This article examines pediatrician-parent interaction in the context of acute pediatric encounters for children with upper respiratory infections. Parents and physicians orient to treatment recommendations as normatively requiring parent acceptance for physicians to close the activity. Through acceptance, withholding of acceptance, or active resistance, parents have resources with which to negotiate for a treatment outcome that is in line with their own wants. This article offers evidence that even in acute care, shared decision making not only occurs but, through normative constraints, is mandated for parents and physicians to reach accord in the treatment decision.

Abstract

In this article I examine one practice speakers have for confirming when confirmation was not otherwise relevant. The practice involves a speaker repeating an assertion previously made by another speaker in modified form with stress on the copula/auxiliary. I argue that these modified repeats work to undermine the first speaker's default ownership and rights over the claim and instead assert the primacy of the second speaker's rights to make the statement. Two types of modified repeats are identified: partial and full. Although both involve competing for primacy of the claim, they occur in distinct sequential environments: The former are generally positioned after a first claim was epistemically downgraded, whereas the latter are positioned following initial claims that were offered straightforwardly, without downgrading.

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

That human social interaction involves the intertwined cooperation of different modalities is uncontroversial. Researchers in several allied fields have, however, only recently begun to document the precise ways in which talk, gesture, gaze, and aspects of the material surround are brought together to form coherent courses of action. The papers in this volume are attempts to develop this line of inquiry. Although the authors draw on a range of analytic, theoretical, and methodological traditions (conversation analysis, ethnography, distributed cognition, and workplace studies), all are concerned to explore and illuminate the inherently multimodal character of social interaction. Recent studies, including those collected in this volume, suggest that different modalities work together not only to elaborate the semantic content of talk but also to constitute coherent courses of action. In this introduction we present evidence for this position. We begin by reviewing some select literature focusing primarily on communicative functions and interactive organizations of specific modalities before turning to consider the integration of distinct modalities in interaction.

Abstract

This study draws on a database of 570 community-based acute pediatric encounters in the USA and uses conversation analysis as a methodology to identify two formats physicians use to recommend non-antibiotic treatment in acute pediatric care (using a subset of 309 cases): recommendations for particular treatment (e.g., “I’m gonna give her some cough medicine.”) and recommendations against particular treatment (e.g., “She doesn’t need any antibiotics.”). The findings are that the presentation of a specific affirmative recommendation for treatment is less likely to engender parent resistance to a non-antibiotic treatment recommendation than a recommendation against particular treatment even if the physician later offers a recommendation for particular treatment. It is suggested that physicians who provide a specific positive treatment recommendation followed by a negative recommendation are most likely to attain parent alignment and acceptance when recommending a non-antibiotic treatment for a viral upper respiratory illness.

Abstract

Thirty-eight 3-, 6-, and 9-month-old infants interacted in a face to face situation with a female stranger who disrupted the on-going interaction with 30 s Happy and Neutral still face episodes. Three- and 6-month-olds manifested a robust still face response for gazing and smiling. For smiling, 9-month-olds manifested a floor effect such that no still face effect could be shown. For gazing, 9-month-olds' still face response was modulated by the context of interaction such that it was less pronounced if a happy still face was presented first. The findings point to a developmental transition by the end of the first year, whereby infants' still face response becomes increasingly influenced by the context of social interaction. (C) 2004 Published by Elsevier Inc. [References: 35]

Abstract

Infants parse speech into word-sized units according to biases that develop in the first year. One bias, present before the age of 7 months, is to cluster syllables that tend to co-occur. The present computational research demonstrates that this statistical clustering bias could lead to the extraction of speech sequences that are actual words, rather than missegmentations. In English and Dutch, these word-forms exhibit the strong–weak (trochaic) pattern that guides lexical segmentation after 8 months, suggesting that the trochaic parsing bias is learned as a generalization from statistically extracted bisyllables, and not via attention to short utterances or to high-frequency bisyllables. Extracted word-forms come from various syntactic classes, and exhibit distributional characteristics enabling rudimentary sorting of words into syntactic categories. The results highlight the importance of infants’ first year in language learning: though they may know the meanings of very few words, infants are well on their way to building a vocabulary.

Abstract

During the first year of life, infants' perception of speech becomes tuned to the phonology of the native language, as revealed in laboratory discrimination and categorization tasks using syllable stimuli. However, the implications of these results for the development of the early vocabulary remain controversial, with some results suggesting that infants retain only vague, sketchy phonological representations of words. Five experiments using a preferential listening procedure tested Dutch 11-month-olds' responses to word, nonword and mispronounced-word stimuli. Infants listened longer to words than nonwords, but did not exhibit this response when words were mispronounced at onset or at offset. In addition, infants preferred correct pronunciations to onset mispronunciations. The results suggest that infants' encoding of familiar words includes substantial phonological detail.