Publications

Abstract

High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1,2,3,4. To address this issue, the international Genome 10K (G10K) consortium5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences.

Abstract

Despite advances in automatic speech recognition (ASR), human input is still essential to produce research-grade segmentations of speech data. Con- ventional approaches to manual segmentation are very labour-intensive. We introduce POnSS, a browser-based system that is specialized for the task of segmenting the onsets and offsets of words, that combines aspects of ASR with limited human input. In developing POnSS, we identified several sub- tasks of segmentation, and implemented each of these as separate interfaces for the annotators to interact with, to streamline their task as much as possible. We evaluated segmentations made with POnSS against a base- line of segmentations of the same data made conventionally in Praat. We observed that POnSS achieved comparable reliability to segmentation us- ing Praat, but required 23% less annotator time investment. Because of its greater efficiency without sacrificing reliability, POnSS represents a distinct methodological advance for the segmentation of speech data.

Abstract

Conversation analysis (CA) is an approach to the study of language and social interaction that puts at center stage its sequential development. The chain of initiating and responding actions that characterizes any interaction is a source of internal evidence for the meaning of social behavior as it exposes the understandings that participants themselves give of what one another is doing. Such an analysis requires the close and repeated inspection of audio and video recordings of naturally occurring interaction, supported by transcripts and other forms of annotation. Distributional regularities are complemented by a demonstration of participants' orientation to deviant behavior. CA has long maintained a constructive dialogue and reciprocal influence with linguistic anthropology. This includes a recent convergence on the cross-linguistic and cross-cultural study of social interaction.

Abstract

This article is concerned with how social categories (e.g., wife, mother, sister, tenant, guest) become visible through the actions that individuals perform in social interaction. Using audio and video recordings of social interaction as data and conversation analysis as a method, we examine how individuals display their rights or constraints to perform certain actions by virtue of occupying a certain social category. We refer to actions whose performance is sensitive to membership in a certain social category as category-sensitive actions. Most of the time, the social boundaries surrounding these actions remain invisible because participants in interaction typically act in ways that are consistent with their social status and roles. In this study, however, we specifically examine instances where category boundaries become visible as participants approach, expose, or transgress them. Our focus is on actions with relatively stringent category sensitivity such as requests, offers, invitations, or handling one’s possessions. Ultimately, we believe these are the tip of an iceberg that potentially includes most, if not all, actions.

Abstract

Clinical neuroscience research relying on animal models brought valuable translational insights into the function and pathologies of the human brain. The anatomical, physiological, and behavioural similarities between humans and mammals have prompted researchers to study cerebral mechanisms at different levels to develop and test new treatments. The vast majority of biomedical research uses rodent models, which are easily manipulable and have a broadly resembling organisation to the human nervous system but cannot satisfactorily mimic some disorders. For these disorders, macaque monkeys have been used as they have a more comparable central nervous system. Still, this research has been hampered by limitations, including high costs and reduced samples. This review argues that a squirrel monkey model might bridge the gap by complementing translational research from rodents, macaque, and humans. With the advent of promising new methods such as ultrasound imaging, tool miniaturisation, and a shift towards open science, the squirrel monkey model represents a window of opportunity that will potentially fuel new translational discoveries in the diagnosis and treatment of brain pathologies.

Abstract

A psychophysical analysis of referential communication establishes a causal link between a visual stimulus and a speaker’s perception of this stimulus, and between the speaker’s internal representation and their reference production. Here, I argue that, in addition to visual perception and language, social cognition plays an integral part in this complex process, as it enables successful speaker-listener coordination. This pragmatic analysis of referential communication tries to explain the redundant use of color adjectives. It is well documented that people use color words when it is not necessary to identify the referent; for instance, they may refer to “the blue star” in a display of shapes with a single star. This type of redundancy challenges influential work from cognitive science and philosophy of language, suggesting that human communication is fundamentally efficient. Here, I explain these seemingly contradictory findings by confirming the visual efficiency hypothesis: redundant color words can facilitate the listener’s visual search for a referent, despite making the description unnecessarily long. Participants’ eye movements revealed that they were faster to find “the blue star” than “the star” in a display of shapes with only one star. A language production experiment further revealed that speakers are highly sensitive to a target’s discriminability, systematically reducing their use of redundant color adjectives as the color of the target became more pervasive in a display. It is concluded that a referential expression’s efficiency should be based not only on its informational value, but also on its discriminatory value, which means that redundant color words can be more efficient than shorter descriptions.

Abstract

Pragmatic theories and computational models of reference must account for people’s frequent use of redundant color adjectives (e.g., referring to a single triangle as “the blue triangle”). The standard pragmatic view holds that the informativity of a referential expression depends on pragmatic contrast: Color adjectives should be used to contrast competitors of the same kind to preempt an ambiguity (e.g., between several triangles of different colors), otherwise they are redundant. Here we propose an alternative to the standard view, the incremental efficiency hypothesis, according to which the efficiency of a referential expression must be calculated incrementally over the entire visual context. This is the first theoretical account of referential efficiency that is sensitive to the incrementality of language processing, making different cross-linguistic predictions depending on word order. Experiment 1 confirmed that English speakers produced more redundant color adjectives (e.g., “the blue triangle”) than Spanish speakers (e.g., “el triángulo azul”), but both language groups used more redundant color adjectives in denser displays where it would be more efficient. In Experiments 2A and 2B, we used eye tracking to show that pragmatic contrast is not a processing constraint. Instead, incrementality and efficiency determine that English listeners establish color contrast across categories (BLUE SHAPES > TRIANGULAR ONE), whereas Spanish listeners establish color contrast within a category (TRIANGLES > BLUE ONE). Spanish listeners, however, reversed their visual search strategy when tested in English immediately after. Our results show that speakers and listeners of different languages exploit word order to increase communicative efficiency.

Abstract

Language and Theory of Mind come together in communication, but their relationship has been intensely contested. I hypothesize that pragmatic markers connect language and Theory of Mind and enable their co-development and co-evolution through a positive feedback loop, whereby the development of one skill boosts the development of the other. I propose to test this hypothesis by investigating two types of pragmatic markers: demonstratives (e.g., ‘this’ vs. ‘that’ in English) and articles (e.g., ‘a’ vs. ‘the’). Pragmatic markers are closed-class words that encode non-representational information that is unavailable to consciousness, but accessed automatically in processing. These markers have been associated with implicit Theory of Mind because they are used to establish joint attention (e.g., ‘I prefer that one’) and mark shared knowledge (e.g., ‘We bought the house’ vs. ‘We bought a house’). Here I develop a theoretical account of how joint attention (as driven by the use of demonstratives) is the basis for children’s later tracking of common ground (as marked by definite articles). The developmental path from joint attention to common ground parallels language change, with demonstrative forms giving rise to definite articles. This parallel opens the possibility of modelling the emergence of Theory of Mind in human development in tandem with its routinization across language communities and generations of speakers. I therefore propose that, in order to understand the relationship between language and Theory of Mind, we should study pragmatics at three parallel timescales: during language acquisition, language use, and language change.

Abstract

The nature of phonological representations has been extensively studied in phonology and psycholinguistics. While full specification is still the norm in psycholinguistic research, underspecified representations may better account for perceptual asymmetries. In this paper, we report on a mismatch negativity (MMN) study with Dutch listeners who took part in a passive oddball paradigm to investigate when the brain notices the difference between expected and observed vowels. In particular, we tested neural discrimination (indicating perceptual discrimination) of the tense mid vowel pairs /o/-/ø/ (place contrast), /e/-/ø/ (labiality or rounding contrast), and /e/-/o/ (place and labiality contrast). Our results show (a) a perceptual asymmetry for place in the /o/-/ø/ contrast, supporting underspecification of [CORONAL] and replicating earlier results for German, and (b) a perceptual asymmetry for labiality for the /e/-/ø/ contrast, which was not reported in the German study. A labial deviant [ø] (standard /e/) yielded a larger MMN than a deviant [e] (standard /ø/). No asymmetry was found for the two-feature contrast. This study partly replicates a similar MMN study on German vowels, and partly presents new findings indicating cross-linguistic differences. Although the vowel inventory of Dutch and German is to a large extent comparable, their (morpho)phonological systems are different, which is reflected in processing.

Abstract

Pervading global narratives suggest that political polarization is increasing, yet the accuracy of such group meta-perceptions has been drawn into question. A recent US study suggests that these beliefs are inaccurate and drive polarized beliefs about out-groups. However, it also found that informing people of inaccuracies reduces those negative beliefs. In this work, we explore whether these results generalize to other countries. To achieve this, we replicate two of the original experiments with 10,207 participants across 26 countries. We focus on local group divisions, which we refer to as fault lines. We find broad generalizability for both inaccurate meta-perceptions and reduced negative motive attribution through a simple disclosure intervention. We conclude that inaccurate and negative group meta-perceptions are exhibited in myriad contexts and that informing individuals of their misperceptions can yield positive benefits for intergroup relations. Such generalizability highlights a robust phenomenon with implications for political discourse worldwide.

Abstract

We analysed both structural and functional aspects of sentences containing the four
adverbials “after”, “before”, “because”, and “if” in two dense corpora of parent-child
interactions from two British English-acquiring children (2;00–4;07). In comparing
mothers’ and children’s usage we separate out the effects of frequency, cognitive
complexity and pragmatics in explaining the course of acquisition of adverbial
sentences. We also compare these usage patterns to stimuli used in a range of
experimental studies and show how differences may account for some of the difficulties
that children have shown in experiments. In addition, we report descriptive data on
various aspects of adverbial sentences that have not yet been studied as a resource for
future investigations.

Abstract

In recent years, it has become clear that attention plays an important role in spoken word production. Some of this evidence comes from distributional analyses of reaction time (RT) in regular picture naming and picture-word interference. Yet we lack a mechanistic account of how the properties of RT distributions come to reflect attentional processes and how these processes may in turn modulate the amount of conflict between lexical representations. Here, we present a computational account according to which attentional lapses allow for existing conflict to build up unsupervised on a subset of trials, thus modulating the shape of the resulting RT distribution. Our process model resolves discrepancies between outcomes of previous studies on semantic interference. Moreover, the model's predictions were confirmed in a new experiment where participants' motivation to remain attentive determined the size and distributional locus of semantic interference in picture naming. We conclude that process modeling of RT distributions importantly improves our understanding of the interplay between attention and conflict in word production. Our model thus provides a framework for interpreting distributional analyses of RT data in picture naming tasks.

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

Memory is fundamental for comprehending and segmenting the flow of activity around us into units called “events”. Here, we investigate the effect of the movement dynamics of actions (ceased, ongoing) and the inner structure of events (with or without object-state change) on people's event memory. Furthermore, we investigate how describing events, and the meaning and form of verb predicates used (denoting a culmination moment, or not, in single verbs or verb-satellite constructions), affects event memory. Before taking a surprise recognition task, Spanish and Mandarin speakers (who lexicalise culmination in different verb predicate forms) watched short videos of events, either in a non-verbal (probe-recognition) or a verbal experiment (event description). Results show that culminated events (i.e. ceased change-of-state events) were remembered best across experiments. Language use showed to enhance memory overall. Further, the form of the verb predicates used for denoting culmination had a moderate effect on memory.

Abstract

Human experience and communication are centred on events, and event apprehension is a rapid process that draws on the visual perception and immediate categorization of event roles (“who does what to whom”). We demonstrate a role for syntactic structure in visual information uptake for event apprehension. An event structure foregrounding either the agent or patient was activated during speaking, transiently modulating the apprehension of subsequently viewed unrelated events. Speakers of Dutch described pictures with actives and passives (agent and patient foregrounding, respectively). First fixations on pictures of unrelated events that were briefly presented (for 300 ms) next were influenced by the active or passive structure of the previously produced sentence. Going beyond the study of how single words cue object perception, we show that sentence structure guides the viewpoint taken during rapid event apprehension.

Abstract

Background

Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals. Biallelic CNTNAP2 variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features.
Case-report

A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402 Mb duplication, which involved intron 1, exon 2, and intron 2 of CNTNAP2 (c.97 +?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal CNTNAP2 expression regulation. Sanger sequencing of the coding region of CNTNAP2 also identified a paternally-inherited missense variant c.2752C > T, p.(Leu918Phe).
Conclusion

This case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication in CNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.

Abstract

The evaluation of transcranial magnetic stimulation (TMS)-induced motor evoked potentials (MEPs) promises valuable information about fundamental brain related mechanisms and may serve as a diagnostic tool for clinical monitoring of therapeutic progress or surgery procedures. However, reports about spontaneous fluctuations of MEP amplitudes causing high intra-individual variability have led to increased concerns about the reliability of this measure. One possible cause for high variability of MEPs could be neuronal oscillatory activity, which reflects fluctuations of membrane potentials that systematically increase and decrease the excitability of neuronal networks. Here, we investigate the dependence of MEP amplitude on oscillation power and phase by combining the application of single pulse TMS over the primary motor cortex with concurrent recordings of electromyography and electroencephalography. Our results show that MEP amplitude is correlated to alpha phase, alpha power as well as beta phase. These findings may help explain corticospinal excitability fluctuations by highlighting the modulatory effect of alpha and beta phase on MEPs. In the future, controlling for such a causal relationship may allow for the development of new protocols, improve this method as a (diagnostic) tool and increase the specificity and efficacy of general TMS applications.

Abstract

In certain varieties of Dutch spoken among young people, the preposition and determiner in locative and directional PPs can sometimes be omitted. We argue on the basis of language data taken from Twitter and intuitions of young speakers of Dutch that nominal arguments in these constructions do not have a DP layer, the absence of which leads to a special interpretation. The option to omit the preposition is related to the structural and semantic complexity of the verb. The bare construction is possible only with simple verbs, and not with manner-of-motion verbs. We present an analysis that accounts for the non-pronunciation of prepositions in directional predicates by claiming that they can be licensed through incorporation into the verb. This type of incorporation is blocked if the verb is structurally complex.

Abstract

When comprehending speech-in-noise (SiN), younger and older adults benefit from seeing the speaker’s mouth, i.e. visible speech. Younger adults additionally benefit from manual iconic co-speech gestures. Here, we investigate to what extent younger and older adults benefit from perceiving both visual articulators while comprehending SiN, and whether this is modulated by working memory and inhibitory control. Twenty-eight younger and 28 older adults performed a word recognition task in three visual contexts: mouth blurred (speech-only), visible speech, or visible speech + iconic gesture. The speech signal was either clear or embedded in multitalker babble. Additionally, there were two visual-only conditions (visible speech, visible speech + gesture). Accuracy levels for both age groups were higher when both visual articulators were present compared to either one or none. However, older adults received a significantly smaller benefit than younger adults, although they performed equally well in speech-only and visual-only word recognition. Individual differences in verbal working memory and inhibitory control partly accounted for age-related performance differences. To conclude, perceiving iconic gestures in addition to visible speech improves younger and older adults’ comprehension of SiN. Yet, the ability to benefit from this additional visual information is modulated by age and verbal working memory. Future research will have to show whether these findings extend beyond the single word level.

Abstract

Although feedforward activity may suffice for recognizing objects in isolation, additional visual operations that aid object recognition might be needed for real-world scenes. One such additional operation is figure-ground segmentation, extracting the relevant features and locations of the target object while ignoring irrelevant features. In this study of 60 human participants (female and male), we show objects on backgrounds of increasing complexity to investigate whether recurrent computations are increasingly important for segmenting objects from more complex backgrounds. Three lines of evidence show that recurrent processing is critical for recognition of objects embedded in complex scenes. First, behavioral results indicated a greater reduction in performance after masking objects presented on more complex backgrounds, with the degree of impairment increasing with increasing background complexity. Second, electroencephalography (EEG) measurements showed clear differences in the evoked response potentials between conditions around time points beyond feedforward activity, and exploratory object decoding analyses based on the EEG signal indicated later decoding onsets for objects embedded in more complex backgrounds. Third, deep convolutional neural network performance confirmed this interpretation. Feedforward and less deep networks showed a higher degree of impairment in recognition for objects in complex backgrounds compared with recurrent and deeper networks. Together, these results support the notion that recurrent computations drive figure-ground segmentation of objects in complex scenes.SIGNIFICANCE STATEMENT The incredible speed of object recognition suggests that it relies purely on a fast feedforward buildup of perceptual activity. However, this view is contradicted by studies showing that disruption of recurrent processing leads to decreased object recognition performance. Here, we resolve this issue by showing that how object recognition is resolved and whether recurrent processing is crucial depends on the context in which it is presented. For objects presented in isolation or in simple environments, feedforward activity could be sufficient for successful object recognition. However, when the environment is more complex, additional processing seems necessary to select the elements that belong to the object and by that segregate them from the background.

Abstract

Object and scene recognition both require mapping of incoming sensory information to existing conceptual knowledge about the world. A notable finding in brain-damaged patients is that they may show differentially impaired performance for specific categories, such as for “living exemplars”. While numerous patients with category-specific impairments have been reported, the explanations for these deficits remain controversial. In the current study, we investigate the ability of a brain injured patient with a well-established category-specific impairment of semantic memory to perform two categorization experiments: ‘natural’ vs. ‘manmade’ scenes (experiment 1) and objects (experiment 2). Our findings show that the pattern of categorical impairment does not respect the natural versus manmade distinction. This suggests that the impairments may be better explained by differences in visual features, rather than by category membership. Using Deep Convolutional Neural Networks (DCNNs) as ‘artificial animal models’ we further explored this idea. Results indicated that DCNNs with ‘lesions’ in higher order layers showed similar response patterns, with decreased relative performance for manmade scenes (experiment 1) and natural objects (experiment 2), even though they have no semantic category knowledge, apart from a mapping between pictures and labels. Collectively, these results suggest that the direction of category-effects to a large extent depends, at least in MS′ case, on the degree of perceptual differentiation called for, and not semantic knowledge.

Abstract

Contrary to received opinion, the Aristotelian Square of Opposition (square) is logically sound, differing from standard modern predicate logic (SMPL) only in that it restricts the universe U of cognitively constructible situations by banning null predicates, making it less unnatural than SMPL. U-restriction strengthens the logic without making it unsound. It also invites a cognitive approach to logic. Humans are endowed with a cognitive predicate logic (CPL), which checks the process of cognitive modelling (world construal) for consistency. The square is considered a first approximation to CPL, with a cognitive set-theoretic semantics. Not being cognitively real, the null set Ø is eliminated from the semantics of CPL. Still rudimentary in Aristotle’s On Interpretation (Int), the square was implicitly completed in his Prior Analytics (PrAn), thereby introducing U-restriction. Abelard’s reconstruction of the logic of Int is logically and historically correct; the loca (Leaking O-Corner Analysis) interpretation of the square, defended by some modern logicians, is logically faulty and historically untenable. Generally, U-restriction, not redefining the universal quantifier, as in Abelard and loca, is the correct path to a reconstruction of CPL. Valuation Space modelling is used to compute the effects of U-restriction.

Abstract

Semantic Syntax (SeSyn), originally called Generative Semantics, is an offshoot of Chomskyan generative grammar (ChoGG), rejected by Chomsky and his school in the late 1960s. SeSyn is the theory of algorithmical grammars producing the well-formed sentences of a language L from the corresponding semantic input, the Semantic Analysis (SA), represented as a traditional tree structure diagram in a specific formal language of incremental predicate logic with quantifying and qualifying operators (including the truth functions), and with all lexical items filled in. A SeSyn-type grammar is thus by definition transformational, but not generative. The SA originates in cognition in a manner that is still largely mysterious, but its actual form can be distilled from the Surface Structure (SS) of the sentences of L following the principles set out in SeSyn. In this presentation we provide a more or less technical résumé of the SeSyn theory. A comparison is made with ChoGG-type grammars, which are rejected on account of their intrinsic unsuitability as a cognitive-realist grammar model. The ChoGG model follows the pattern of a 1930s neopositivist Carnap-type grammar for formal logical languages. Such grammars are random sentence generators, whereas, obviously, (nonpathological) humans are not. A ChoGG-type grammar is fundamentally irreconcilable with a mentalist-realist theory of grammar. The body of the paper consists in a demonstration of the production of an English and a French sentence, the latter containing a classic instance of the cyclic rule of Predicate Raising (PR), essential in the general theory of clausal complementation yet steadfastly repudiated in ChoGG for reasons that have never been clarified. The processes and categories defined in SeSyn are effortlessly recognised in languages all over the world, whether indigenous or languages of a dominant culture—taking into account language-specific values for the general theoretical parameters involved. This property makes SeSyn particularly relevant for linguistic typology, which now ranks as the most promising branch of linguistics but has so far conspicuously lacked an adequate theoretical basis.

Abstract

One of the challenges in speech perception is that listeners must deal with considerable
segmental and suprasegmental variability in the acoustic signal due to differences between talkers. Most previous studies have focused on how listeners deal with segmental variability.
In this EEG experiment, we investigated whether listeners track talker-specific usage of suprasegmental cues to lexical stress to recognize spoken words correctly. In a three-day training phase, Dutch participants learned to map non-word minimal stress pairs onto different object referents (e.g., USklot meant “lamp”; usKLOT meant “train”). These non-words were
produced by two male talkers. Critically, each talker used only one suprasegmental cue to signal stress (e.g., Talker A used only F0 and Talker B only intensity). We expected participants to learn which talker used which cue to signal stress. In the test phase, participants indicated whether spoken sentences including these non-words were correct (“The word for lamp is…”).
We found that participants were slower to indicate that a stimulus was correct if the non-word was produced with the unexpected cue (e.g., Talker A using intensity). That is, if in training Talker A used F0 to signal stress, participants experienced a mismatch between predicted and perceived phonological word-forms if, at test, Talker A unexpectedly used intensity to cue
stress. In contrast, the N200 amplitude, an event-related potential related to phonological
prediction, was not modulated by the cue mismatch. Theoretical implications of these
contrasting results are discussed. The behavioral findings illustrate talker-specific prediction of prosodic cues, picked up through perceptual learning during training.

Abstract

Autism spectrum disorder (ASD) and schizophrenia have been conceived as partly opposing disorders in terms of systemizing versus empathizing cognitive styles, with resemblances to male versus female average sex differences. Left-right asymmetry of the brain is an important aspect of its organization that shows average differences between the sexes, and can be altered in both ASD and schizophrenia. Here we mapped multivariate associations of polygenic risk scores for ASD and schizophrenia with asymmetries of regional cerebral cortical surface area, thickness and subcortical volume measures in 32,256 participants from the UK Biobank. Polygenic risks for the two disorders were positively correlated (r=0.08, p=7.13×10-50), and both were higher in females compared to males, consistent with biased participation against higher-risk males. Each polygenic risk score was associated with multivariate brain asymmetry after adjusting for sex, ASD r=0.03, p=2.17×10-9, schizophrenia r=0.04, p=2.61×10-11, but the multivariate patterns were mostly distinct for the two polygenic risks, and neither resembled average sex differences. Annotation based on meta-analyzed functional imaging data showed that both polygenic risks were associated with asymmetries of regions important for language and executive functions, consistent with behavioural associations that arose in phenome-wide association analysis. Overall, the results indicate that distinct patterns of subtly altered brain asymmetry may be functionally relevant manifestations of polygenic risks for ASD and schizophrenia, but do not support brain masculinization or feminization in their etiologies.

Abstract

Roughly 10% of the human population is left-handed, and this rate is increased in some brain-related disorders. The neuroanatomical correlates of hand preference have remained equivocal. We resampled structural brain image data from 28,802 right-handers and 3,062 left-handers (UK Biobank population dataset) to a symmetrical surface template, and mapped asymmetries for each of 8,681 vertices across the cerebral cortex in each individual. Left-handers compared to right-handers showed average differences of surface area asymmetry within the fusiform cortex, the anterior insula, the anterior middle cingulate cortex, and the precentral cortex. Meta-analyzed functional imaging data implicated these regions in executive functions and language. Polygenic disposition to left-handedness was associated with two of these regional asymmetries, and 18 loci previously linked with left-handedness by genome-wide screening showed associations with one or more of these asymmetries. Implicated genes included six encoding microtubule-related proteins: TUBB, TUBA1B, TUBB3, TUBB4A, MAP2, and NME7—mutations in the latter can cause left to right reversal of the visceral organs. There were also two cortical regions where average thickness asymmetry was altered in left-handedness: on the postcentral gyrus and the inferior occipital cortex, functionally annotated with hand sensorimotor and visual roles. These cortical thickness asymmetries were not heritable. Heritable surface area asymmetries of language-related regions may link the etiologies of hand preference and language, whereas nonheritable asymmetries of sensorimotor cortex may manifest as consequences of hand preference.

Abstract

Left–right hemispheric asymmetry is an important aspect of healthy brain organization for many functions including language, and it can be altered in cognitive and psychiatric disorders. No mechanism has yet been identified for establishing the human brain’s left–right axis. We performed multivariate genome-wide association scanning of cortical regional surface area and thickness asymmetries, and subcortical volume asymmetries, using data from 32,256 participants from the UK Biobank. There were 21 significant loci associated with different aspects of brain asymmetry, with functional enrichment involving microtubule-related genes and embryonic brain expression. These findings are consistent with a known role of the cytoskeleton in left–right axis determination in other organs of invertebrates and frogs. Genetic variants associated with brain asymmetry overlapped with those associated with autism, educational attainment and schizophrenia. Comparably large datasets will likely be required in future studies, to replicate and further clarify the associations of microtubule-related genes with variation in brain asymmetry, behavioural and psychiatric traits.

Abstract

Several abilities outside literacy proper are associated with reading and spelling, both phenotypically and genetically, though our knowledge of multivariate genomic covariance structures is incomplete. Here, we introduce structural models describing genetic and residual influences between traits to study multivariate links across measures of literacy, phonological awareness, oral language, and phonological working memory (PWM) in unrelated UK youth (8-13 years, N=6,453). We find that all phenotypes share a large proportion of underlying genetic variation, although especially oral language and PWM reveal substantial differences in their genetic variance composition with substantial trait-specific genetic influences. Multivariate genetic and residual trait covariance showed concordant patterns, except for marked differences between oral language and literacy/phonological awareness, where strong genetic links contrasted near-zero residual overlap. These findings suggest differences in etiological mechanisms, acting beyond a pleiotropic set of genetic variants, and implicate variation in trait modifiability even among phenotypes that have high genetic correlations.

Abstract

Previous fNIRS studies have suggested that adult-child cooperation is accompanied by increased inter-brain synchrony. However, its reflection in the electrophysiological synchrony remains unclear. In this study, we designed a naturalistic and well-controlled adult-child interaction paradigm using a tangram solving video game, and recorded dual-EEG from child and adult dyads during cooperative and individual conditions. By calculating the directed inter-brain connectivity in the theta and alpha bands, we found that the inter-brain frontal network was more densely connected and stronger in strength during the cooperative than the individual condition when the adult was watching the child playing. Moreover, the inter-brain network across different dyads shared more common information flows from the player to the observer during cooperation, but was more individually different in solo play. The results suggest an enhancement in inter-brain EEG interactions during adult-child cooperation. However, the enhancement was evident in all cooperative cases but partly depended on the role of participants.

Abstract

This article addresses the problem of computing an upper bound of
the degree d of a polynomial solution P(x) of an algebraic differ-
ence equation of the form Gx)(P(x −τ1), . . . , P(x −τs) + G0(x) =

0 when such P(x) with the coefficients in a field K of character-
istic zero exists and where G is a non-linear s-variable polynomial
with coefficients in K[x] and G0 is a polynomial with coefficients
in K.
It will be shown that if G is a quadratic polynomial with constant
coefficients then one can construct a countable family of polynomi-
als fl(u0) such that if there exists a (minimal) index l0 with fl0(u0)
being a non-zero polynomial, then the degree d is one of its roots
or d ≤ l0, or d < deg(G0). Moreover, the existence of such l0 will
be proven for K being the field of real numbers. These results are
based on the properties of the modules generated by special fami-
lies of homogeneous symmetric polynomials.
A sufficient condition for the existence of a similar bound of the
degree of a polynomial solution for an algebraic difference equation
with G of arbitrary total degree and with variable coefficients will
be proven as well.

Abstract

A doubly quantified sentence, such as All hikers climbed a hill, allows two interpretations: Did all hikers climb different hills, or did they climb the same hill? Previous work has shown that comprehenders construct disambiguated logical representations of these interpretations (Raffray & Pickering, 2010). We extended this line of research by investigating whether bilingual logical representations are shared between languages or separate per language. We conducted four sentence-picture matching experiments in which we primed interpretations of doubly quantified sentences in Dutch and French monolingual and bilingual language comprehension. These experiments showed that bilinguals have fully shared logical representations and that logical representations constructed in the L1 and the L2 are comparable. Moreover, a control experiment ruled out that the priming effects were driven by visual overlap between prime and target pictures. We discuss these findings in terms of a language-dependent account of logical representations, although these findings can also be reconciled with the idea that logical representations involve conceptual mental models of sentence meaning.

Abstract

Linguistic labels exert a particularly strong top-down influence on perception. The potency of this influence has been ascribed to their ability to evoke category-diagnostic features of concepts. In doing this, they facilitate the formation of a perceptual template concordant with those features, effectively biasing perceptual activation towards the labelled category. In this study, we employ a cueing paradigm with moving, point-light stimuli across three experiments, in order to examine how the number of biological motion features (form and kinematics) encoded in lexical cues modulates the efficacy of lexical top-down influence on perception. We find that the magnitude of lexical influence on biological motion perception rises as a function of the number of biological motion-relevant features carried by both cue and target. When lexical cues encode multiple biological motion features, this influence is robust enough to mislead participants into reporting erroneous percepts, even when a masking level yielding high performance is used.

Abstract

Meanings communicated with depictions constitute an integral part of how speakers and signers actually use language (Clark, 2016). Recent studies have argued that, in sign languages, depicting strategy like constructed action (CA), in which a signer enacts the referent, is used for referential purposes in narratives. Here, we tested the referential function of CA in a more controlled experimental setting and outside narrative context. Given the iconic properties of CA we hypothesized that this strategy could be used for efficient information transmission. Thus, we asked if use of CA increased with the increase in the information required to be communicated. Twenty-three deaf signers of LIS described unconnected images, which varied in the amount of information represented, to another player in a director–matcher game. Results revealed that participants used CA to communicate core information about the images and also increased the use of CA as images became informatively denser. The findings show that iconic features of CA can be used for referential function in addition to its depictive function outside narrative context and to achieve communicative efficiency.

Abstract

Spinocerebellar ataxia type 23 (SCA23) is a late‐onset neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, for which there is no therapy available. It is caused by pathogenic variants in PDYN, which encodes prodynorphin (PDYN). PDYN is processed into the opioid peptides α‐neoendorphin and dynorphins (Dyn) A and B; inhibitory neurotransmitters that function in pain signaling, stress‐induced responses and addiction. Variants causing SCA23 mostly affect Dyn A, leading to loss of secondary structure and increased peptide stability. PDYNR212W mice express human PDYN containing the SCA23 variant p.R212W. These mice show progressive motor deficits from 3 months of age, climbing fiber (CF) deficits from 3 months of age, and Purkinje cell (PC) loss from 12 months of age. A mouse model for SCA1 showed similar CF deficits, and a recent study found additional developmental abnormalities, namely increased GABAergic interneuron connectivity and non‐cell autonomous disruption of PC function. As SCA23 mice show a similar pathology to SCA1 mice in adulthood, we hypothesized that SCA23 may also follow SCA1 pathology during development. Examining PDYNR212W cerebella during development, we uncovered developmental deficits from 2 weeks of age, namely a reduced number of GABAergic synapses on PC soma, possibly leading to the observed delay in early phase CF elimination between 2 and 3 weeks of age. Furthermore, CFs did not reach terminal height, leaving proximal PC dendrites open to be occupied by parallel fibers (PFs). The observed increase in vGlut1 protein—a marker for PF‐PC synapses—indicates that PFs indeed take over CF territory and have increased connectivity with PCs. Additionally, we detected altered expression of several critical Ca2+ channel subunits, potentially contributing to altered Ca2+ transients in PDYNR212W cerebella. These findings indicate that developmental abnormalities contribute to the SCA23 pathology and uncover a developmental role for PDYN in the cerebellum.

Abstract

Orthographic systems vary dramatically in the extent to which they encode a language’s phonological and lexico-semantic structure. Studies of the effects of orthographic transparency suggest that such variation is likely to have major implications for how the reading system operates. However, such studies have been unable to examine in isolation the contributory effect of transparency on reading due to co-varying linguistic or socio-cultural factors. We first investigated the phonological properties of languages using the range of the world’s orthographic systems (alphabetic; alphasyllabic; consonantal; syllabic; logographic), and found that, once geographical proximity is taken into account, phonological properties do not relate to orthographic system. We then explored the processing implications of orthographic variation by training a connectionist implementation of the triangle model of reading on the range of orthographic systems whilst controlling for phonological and semantic structure. We show that the triangle model is effective as a universal model of reading, able to replicate key behavioural and neuroscientific results. Importantly, the model also generates new predictions deriving from an explicit description of the effects of orthographic transparency on how reading is realised and defines the consequences of orthographic systems on reading processes.

Abstract

SATB2-associated syndrome (SAS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the SATB2 gene, and is typically characterized by intellectual disability and severely impaired communication skills. The goal of this study was to contribute to the understanding of speech and language impairments in SAS, in the context of general developmental skills and cognitive and adaptive functioning. We performed detailed oral motor, speech and language profiling in combination with neuropsychological assessments in 23 individuals with a molecularly confirmed SAS diagnosis: 11 primarily verbal individuals and 12 primarily nonverbal individuals, independent of their ages. All individuals had severe receptive language delays. For all verbal individuals, we were able to define underlying speech conditions. While childhood apraxia of speech was most prevalent, oral motor problems appeared frequent as well and were more present in the nonverbal group than in the verbal group. For seven individuals, age-appropriate Wechsler indices could be derived, showing that the level of intellectual functioning of these individuals varied from moderate–mild ID to mild ID-borderline intellectual functioning. Assessments of adaptive functioning with the Vineland Screener showed relatively high scores on the domain “daily functioning” and relatively low scores on the domain “communication” in most individuals. Altogether, this study provides a detailed delineation of oral motor, speech and language skills and neuropsychological functioning in individuals with SAS, and can provide families and caregivers with information to guide diagnosis, management and treatment approaches.

Abstract

Heterozygous pathogenic variants in various FOXP genes cause specific developmental disorders. The phenotype associated with heterozygous variants in FOXP4 has not been previously described.
We assembled a cohort of eight individuals with heterozygous and mostly de novo variants in FOXP4: seven individuals with six different missense variants and one individual with a frameshift variant. We collected clinical data to delineate the phenotypic spectrum, and used in silico analyses and functional cell-based assays to assess pathogenicity of the variants.
We collected clinical data for six individuals: five individuals with a missense variant in the forkhead box DNA-binding domain of FOXP4, and one individual with a truncating variant. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia, cervical spine abnormalities, and ptosis. Luciferase assays showed loss-of-function effects for all these variants, and aberrant subcellular localization patterns were seen in a subset. The remaining two missense variants were located outside the functional domains of FOXP4, and showed transcriptional repressor capacities and localization patterns similar to the wild-type protein.
Collectively, our findings show that heterozygous loss-of-function variants in FOXP4 are associated with an autosomal dominant neurodevelopmental disorder with speech/language delays, growth defects, and variable congenital abnormalities.

Abstract

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers—the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

Abstract

Do we structure object-related conceptual information according to real-world sensorimotor experience, or can it also be shaped by linguistic information? This study investigates whether a feature of language coded in grammar—numeral classifiers—affects the conceptual representation of objects. We compared speakers of Mandarin (a classifier language) with speakers of Dutch (a language without classifiers) on how they judged object similarity in four studies. In the first three studies, participants had to rate how similar a target object was to four comparison objects, one of which shared a classifier with the target. Objects were presented as either words or pictures. Overall, the target object was always rated as most similar to the object with the shared classifier, but this was the case regardless of the language of the participant. In a final study employing a successive pile-sorting task, we also found that the underlying object concepts were similar for speakers of Mandarin and Dutch. Speakers of a non-classifier language are therefore sensitive to the same conceptual similarities that underlie classifier systems in a classifier language. Classifier systems may therefore reflect conceptual structure, rather than shape it.

Abstract

We present the first ERP experiments that test the online processing of the scalar implicature some ⇝ not all in contexts where the speaker competence assumption is violated. Participants observe game scenarios with four open cards on the table and two closed cards outside of the table, while listening to statements made by a virtual player. In the full access context, the player makes a fully informed statement by referring only to the open cards, as cards on the table; in the partial access context, she makes a partially informed statement by referring to the whole set of cards, as cards in the game. If all of the open cards contain a given object X (Fullset condition), then some cards on the table contain Xs is inconsistent with the not all reading, whereas it is unknown whether some cards in the game contain X is consistent with this reading. If only a subset of the open cards contains X (Subset condition), then both utterances are known to be consistent with the not all implicature. Differential effects are observed depending on the quantifier reading adopted by the participant: For those participants who adopt the not all reading in the full access context, but not in the partial access context (weak pragmatic reading), a late posterior negativity effect is observed in the partial access context for the Fullset relative to the Subset condition. This effect is argued to reflect inference-driven context retrieval and monitoring processes related to epistemic reasoning involved in evaluating the competence assumption. By contrast, for participants who adopt the logical interpretation of some (some and possibly all), an N400 effect is observed in the partial access context, when comparing the Subset against the Fullset condition, which is argued to result from the competition between the two quantifying expressions some cards on the table and some cards in the game functioning in the experiment as scalar alternatives.

Abstract

Purpose: When we speak, we gesture, and indeed, persons with aphasia gesture more frequently. The reason(s) for this is still being investigated, spurring an increase in the number of studies of gesture in persons with aphasia. As the number of studies increases, so too does the need for a shared set of best practices for gesture research in aphasia. After briefly reviewing the importance and use of gesture in persons with aphasia, this viewpoint puts forth methodological and design considerations when evaluating gesture in persons with aphasia.
Method & Results: We explore several different design and methodological considerations for gesture research specific to persons with aphasia, such as video angle specifications, data collection techniques, and analysis considerations. The goal of these suggestions is to develop transparent and reproducible methods for evaluating gesture in aphasia to build a solid foundation for continued work in this area.
Conclusions: We have proposed that it is critical to evaluate multimodal communication in a methodologically robust way to facilitate increased knowledge about the relationship of gesture to spoken language, cognition, and to other aspects of living with aphasia and recovery from aphasia. We conclude by postulating future directions for gesture research in aphasia.

Abstract

Abstract Objective Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the genetic correlation between epilepsy and background EEG oscillations. Methods Confounding factors, including the heterogeneous etiology of epilepsies and medication effects, hamper studies on background brain activity in people with epilepsy. To overcome this limitation, we compared genetic data from a genome-wide association study (GWAS) on epilepsy (n = 12 803 people with epilepsy and 24 218 controls) with that from a GWAS on background EEG (n = 8425 subjects without epilepsy), in which background EEG oscillation power was quantified in four different frequency bands: alpha, beta, delta, and theta. We replicated our findings in an independent epilepsy replication dataset (n = 4851 people with epilepsy and 20 428 controls). To assess the genetic overlap between these phenotypes, we performed genetic correlation analyses using linkage disequilibrium score regression, polygenic risk scores, and Mendelian randomization analyses. Results Our analyses show strong genetic correlations of genetic generalized epilepsy (GGE) with background EEG oscillations, primarily in the beta frequency band. Furthermore, we show that subjects with higher beta and theta polygenic risk scores have a significantly higher risk of having generalized epilepsy. Mendelian randomization analyses suggest a causal effect of GGE genetic liability on beta oscillations. Significance Our results point to shared biological mechanisms underlying background EEG oscillations and the susceptibility for GGE, opening avenues to investigate the clinical utility of background EEG oscillations in the diagnostic workup of epilepsy.

Abstract

Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem cell (iPSC) lines from 3 individuals with LND, along with 6 control lines from 3 normal individuals. All 12 lines had the characteristics of pluripotent stem cells, as assessed by immunostaining for pluripotency markers, expression of pluripotency genes, and differentiation into the 3 primary germ cell layers. Gene expression profiling with RNAseq demonstrated significant heterogeneity among the lines. Despite this heterogeneity, several anticipated abnormalities were readily detectable across all LND lines, including reduced HPRT1 mRNA. Several unexpected abnormalities were also consistently detectable across the LND lines, including decreases in FAR2P1 and increases in RNF39. Shotgun proteomics also demonstrated several expected abnormalities in the LND lines, such as absence of HGprt protein. The proteomics study also revealed several unexpected abnormalities across the LND lines, including increases in GNAO1 decreases in NSE4A. There was a good but partial correlation between abnormalities revealed by the RNAseq and proteomics methods. Finally, functional studies demonstrated LND lines had no HGprt enzyme activity and resistance to the toxic pro-drug 6-thioguanine. Intracellular purines in the LND lines were normal, but they did not recycle hypoxanthine. These cells provide a novel resource to reveal insights into the relevance of heterogeneity among iPSC lines and applications for modeling LND.

Abstract

First-language research suggests that new words, after initial episodic-memory encoding, are consolidated and hence become lexically integrated. We asked here if lexical consolidation, about word forms and meanings, occurs in a second language. Italian–English sequential bilinguals learned novel English-like words (e.g., apricon, taught to mean “stapler”). fMRI analyses failed to reveal a predicted shift, after consolidation time, from hippocampal to temporal neocortical activity. In a pause-detection task, responses to existing phonological competitors of learned words (e.g., apricot for apricon) were slowed down if the words had been learned two days earlier (i.e., after consolidation time) but not if they had been learned the same day. In a lexical-decision task, new words primed responses to semantically-related existing words (e.g., apricon-paper) whether the words were learned that day or two days earlier. Consolidation appears to support integration of words into the bilingual lexicon, possibly more rapidly for meanings than for forms.

Abstract

Neuronal oscillations putatively track speech in order to optimize sensory processing. However, it is unclear how isochronous brain oscillations can track pseudo-rhythmic speech input. Here we propose that oscillations can track pseudo-rhythmic speech when considering that speech time is dependent on content-based predictions flowing from internal language models. We show that temporal dynamics of speech are dependent on the predictability of words in a sentence. A computational model including oscillations, feedback, and inhibition is able to track pseudo-rhythmic speech input. As the model processes, it generates temporal phase codes, which are a candidate mechanism for carrying information forward in time. The model is optimally sensitive to the natural temporal speech dynamics and can explain empirical data on temporal speech illusions. Our results suggest that speech tracking does not have to rely only on the acoustics but could also exploit ongoing interactions between oscillations and constraints flowing from internal language models.

Abstract

Successful forgetting of unwanted memories is crucial for goal-directed behavior and mental wellbeing. While memory retention strengthens memory traces, it is unclear what happens to memory traces of events that are actively forgotten. Using intracranial EEG recordings from lateral temporal cortex, we find that memory traces for actively forgotten information are partially preserved and exhibit unique neural signatures. Memory traces of successfully remembered items show stronger encoding-retrieval similarity in gamma frequency patterns. By contrast, encoding-retrieval similarity of item-specific memory traces of actively forgotten items depend on activity at alpha/beta frequencies commonly associated with functional inhibition. Additional analyses revealed selective modification of item-specific patterns of connectivity and top-down information flow from dorsolateral prefrontal cortex to lateral temporal cortex in memory traces of intentionally forgotten items. These results suggest that intentional forgetting relies more on inhibitory top-down connections than intentional remembering, resulting in inhibitory memory traces with unique neural signatures and representational formats.

Abstract

Written language comprehension requires readers to integrate incoming information with stored mental knowledge to construct meaning. Literally plausible idiomatic expressions can activate both figurative and literal interpretations, which convey different meanings. Previous research has shown that contexts biasing the figurative or literal interpretation of an idiom can facilitate its processing. Moreover, there is evidence that processing of idiomatic expressions is subject to individual differences in linguistic knowledge and cognitive-linguistic skills. It is therefore conceivable that individuals vary in the extent to which they experience context-induced facilitation in processing idiomatic expressions. To explore the interplay between reader-related variables and contextual facilitation, we conducted a self-paced reading experiment. We recruited participants who had recently completed a battery of 33 behavioural tests measuring individual differences in linguistic knowledge, general cognitive skills and linguistic processing skills. In the present experiment, a subset of these participants read idiomatic expressions that were either presented in isolation or preceded by a figuratively or literally biasing context. We conducted analyses on the reading times of idiom-final nouns and the word thereafter (spill-over region) across the three conditions, including participants’ scores from the individual differences battery. Our results showed no main effect of the preceding context, but substantial variation in contextual facilitation between readers. We observed main effects of participants’ word reading ability and non-verbal intelligence on reading times as well as an interaction between condition and linguistic knowledge. We encourage interested researchers to exploit the present dataset for follow-up studies on individual differences in idiom processing.

Abstract

Structural brain changes along the lineage leading to modern Homo sapiens contributed to our distinctive cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles with evidence of recent positive polygenic selection over the past 2000–3000 years are associated with increased surface area (SA) of the entire cortex, as well as specific regions, including those involved in spoken language and visual processing. Therefore, polygenic selective pressures impact the structure of specific cortical areas even over relatively recent timescales. Moreover, common sequence variation within human gained enhancers active in the prenatal cortex is associated with postnatal global SA. We show that such variation modulates the function of a regulatory element of the developmentally relevant transcription factor HEY2 in human neural progenitor cells and is associated with structural changes in the inferior frontal cortex. These results indicate that non-coding genomic regions active during prenatal cortical development are involved in the evolution of human brain structure and identify novel regulatory elements and genes impacting modern human brain structure.

Abstract

Vocal plasticity can occur in response to environmental and biological factors, including conspecifics' vocalizations and noise. Pinnipeds are one of the few mammalian groups capable of vocal learning, and are therefore relevant to understanding the evolution of vocal plasticity in humans and other animals. Here, we investigate the vocal plasticity of harbour seals (Phoca vitulina), a species with vocal learning abilities observed in adulthood but not puppyhood. To evaluate early mammalian vocal development, we tested 1–3 weeks-old seal pups. We tailored noise playbacks to this species and age to induce seal pups to shift their fundamental frequency (f0), rather than adapt call amplitude or temporal characteristics. We exposed individual pups to low- and high-intensity bandpass-filtered noise, which spanned—and masked—their typical range of f0; simultaneously, we recorded pups' spontaneous calls. Unlike most mammals, pups modified their vocalizations by lowering their f0 in response to increased noise. This modulation was precise and adapted to the particular experimental manipulation of the noise condition. In addition, higher levels of noise induced less dispersion around the mean f0, suggesting that pups may have actively focused their phonatory efforts to target lower frequencies. Noise did not seem to affect call amplitude. However, one seal showed two characteristics of the Lombard effect known for human speech in noise: significant increase in call amplitude and flattening of spectral tilt. Our relatively low noise levels may have favoured f0 modulation while inhibiting amplitude adjustments. This lowering of f0 is unusual, as most animals commonly display no such f0 shift. Our data represent a relatively rare case in mammalian neonates, and have implications for the evolution of vocal plasticity and vocal learning across species, including humans.

Abstract

In referential communication, Grice's Maxim of Quantity is thought to imply that utterances conveying unnecessary information should incur comprehension difficulties. There is, however, considerable evidence that speakers frequently encode redundant information in their referring expressions, raising the question as to whether such overspecifications hinder listeners' processing. Evidence from previous work is inconclusive, and mostly comes from offline studies. In this article, we present two event-related potential (ERP) experiments, investigating the real-time comprehension of referring expressions that contain redundant adjectives in complex visual contexts. Our findings provide support for both Gricean and bounded-rational accounts. We argue that these seemingly incompatible results can be reconciled if common ground is taken into account. We propose a bounded-rational account of overspecification, according to which even redundant words can be beneficial to comprehension to the extent that they facilitate the reduction of listeners' uncertainty regarding the target referent.

Abstract

Animacy, commonly defined as the distinction between living and non-living entities, is a useful notion in cognitive science and linguistics employed to describe and predict variation in psychological and linguistic behaviour. In the (psycho)linguistics literature we find linguistic animacy dichotomies which are (implicitly) assumed to correspond to biological dichotomies. We argue this is problematic, as it leaves us without a cognitively grounded, universal description for non-prototypical cases. We show that ‘animacy’ in language can be better understood as universally emerging from a gradual, cognitive property by collecting animacy ratings for a great range of nouns from Japanese and Persian. We used these cognitive ratings in turn to predict linguistic variation in these languages traditionally explained through dichotomous distinctions. We show that whilst (speakers of) languages may subtly differ in their conceptualisation of animacy, universality may be found in the process of mapping conceptual animacy to linguistic variation.

Abstract

During natural conversation, people must quickly understand the meaning of what the other speaker is saying. This concerns not just the semantic content of an utterance, but also the social action (i.e., what the utterance is doing—requesting information, offering, evaluating, checking mutual understanding, etc.) that the utterance is performing. The multimodal nature of human language raises the question of whether visual signals may contribute to the rapid processing of such social actions. However, while previous research has shown that how we move reveals the intentions underlying instrumental actions, we do not know whether the intentions underlying fine-grained social actions in conversation are also revealed in our bodily movements. Using a corpus of dyadic conversations combined with manual annotation and motion tracking, we analyzed the kinematics of the torso, head, and hands during the asking of questions. Manual annotation categorized these questions into six more fine-grained social action types (i.e., request for information, other-initiated repair, understanding check, stance or sentiment, self-directed, active participation). We demonstrate, for the first time, that the kinematics of the torso, head and hands differ between some of these different social action categories based on a 900 ms time window that captures movements starting slightly prior to or within 600 ms after utterance onset. These results provide novel insights into the extent to which our intentions shape the way that we move, and provide new avenues for understanding how this phenomenon may facilitate the fast communication of meaning in conversational interaction, social action, and conversation

Abstract

In everyday conversation, we are often challenged with communicating in non-ideal settings, such as in noise. Increased speech intensity and larger mouth movements are used to overcome noise in constrained settings (the Lombard effect). How we adapt to noise in face-to-face interaction, the natural environment of human language use, where manual gestures are ubiquitous, is currently unknown. We asked Dutch adults to wear headphones with varying levels of multi-talker babble while attempting to communicate action verbs to one another. Using quantitative motion capture and acoustic analyses, we found that (1) noise is associated with increased speech intensity and enhanced gesture kinematics and mouth movements, and (2) acoustic modulation only occurs when gestures are not present, while kinematic modulation occurs regardless of co-occurring speech. Thus, in face-to-face encounters the Lombard effect is not constrained to speech but is a multimodal phenomenon where the visual channel carries most of the communicative burden.

Abstract

In human communication, social intentions and meaning are often revealed in the way we move. In this study, we investigate the flexibility of human communication in terms of kinematic modulation in a clinical population, namely, autistic individuals. The aim of this study was twofold: to assess (a) whether communicatively relevant kinematic features of gestures differ between autistic and neurotypical individuals, and (b) if autistic individuals use communicative kinematic modulation to support gesture recognition. We tested autistic and neurotypical individuals on a silent gesture production task and a gesture comprehension task. We measured movement during the gesture production task using a Kinect motion tracking device in order to determine if autistic individuals differed from neurotypical individuals in their gesture kinematics. For the gesture comprehension task, we assessed whether autistic individuals used communicatively relevant kinematic cues to support recognition. This was done by using stick-light figures as stimuli and testing for a correlation between the kinematics of these videos and recognition performance. We found that (a) silent gestures produced by autistic and neurotypical individuals differ in communicatively relevant kinematic features, such as the number of meaningful holds between movements, and (b) while autistic individuals are overall unimpaired at recognizing gestures, they processed repetition and complexity, measured as the amount of submovements perceived, differently than neurotypicals do. These findings highlight how subtle aspects of neurotypical behavior can be experienced differently by autistic individuals. They further demonstrate the relationship between movement kinematics and social interaction in high-functioning autistic individuals.

Abstract

Natural human interaction involves the fast-paced exchange of speaker turns. Crucially, if a next speaker waited with planning their turn until the current speaker was finished, language production models would predict much longer turn transition times than what we observe. Next speakers must therefore prepare their turn in parallel to listening. Visual signals likely play a role in this process, for example by helping the next speaker to process the ongoing utterance and thus prepare an appropriately-timed response.

To understand how visual signals contribute to the timing of turn-taking, and to move beyond the mostly qualitative studies of gesture in conversation, we examined unconstrained, computer-mediated conversations between 20 pairs of participants while systematically manipulating speaker visibility. Using motion tracking and manual gesture annotation, we assessed 1) how visibility affected the timing of turn transitions, and 2) whether use of co-speech gestures and 3) the communicative kinematic features of these gestures were associated with changes in turn transition timing.

We found that 1) decreased visibility was associated with less tightly timed turn transitions, and 2) the presence of gestures was associated with more tightly timed turn transitions across visibility conditions. Finally, 3) structural and salient kinematics contributed to gesture’s facilitatory effect on turn transition times.

Our findings suggest that speaker visibility--and especially the presence and kinematic form of gestures--during conversation contributes to the temporal coordination of conversational turns in computer-mediated settings. Furthermore, our study demonstrates that it is possible to use naturalistic conversation and still obtain controlled results.

Abstract

Spanish–English bilinguals rarely code-switch in the perfect structure between the Spanish auxiliary haber (“to have”) and the participle (e.g., “Ella ha voted”; “She has voted”). However, they are somewhat likely to switch in the progressive structure between the Spanish auxiliary estar (“to be”) and the participle (“Ella está voting”; “She is voting”). This phenomenon is known as the “auxiliary phrase asymmetry”. One hypothesis as to why this occurs is that estar has more semantic weight as it also functions as an independent verb, whereas haber is almost exclusively used as an auxiliary verb. To test this hypothesis, we employed a connectionist model that produces spontaneous code-switches. Through simulation experiments, we showed that i) the asymmetry emerges in the model and that ii) the asymmetry disappears when using haber also as a main verb, which adds semantic weight. Therefore, the lack of semantic weight of haber may indeed cause the asymmetry.

Abstract

Code-switching is the alternation from one language to the other during bilingual speech. We present a novel method of researching this phenomenon using computational cognitive modeling. We trained a neural network of bilingual sentence production to simulate early balanced Spanish–English bilinguals, late speakers of English who have Spanish as a dominant native language, and late speakers of Spanish who have English as a dominant native language. The model produced code-switches even though it was not exposed to code-switched input. The simulations predicted how code-switching patterns differ between early balanced and late non-balanced bilinguals; the balanced bilingual simulation code-switches considerably more frequently, which is in line with what has been observed in human speech production. Additionally, we compared the patterns produced by the simulations with two corpora of spontaneous bilingual speech and identified noticeable commonalities and differences. To our knowledge, this is the first computational cognitive model simulating the code-switched production of non-balanced bilinguals and comparing the simulated production of balanced and non-balanced bilinguals with that of human bilinguals.

Abstract

A considerable amount of the population in more economically developed countries are functionally illiterate (i.e., low literate). Despite some years of schooling and basic reading skills, these individuals cannot properly read and write and, as a consequence have problems to understand even short texts. An often-discussed approach (Greenberg et al., 1997) assumes weak phonological processing skills coupled with untreated developmental dyslexia as possible causes of functional illiteracy. Although there is some data suggesting commonalities between low literacy and developmental dyslexia, it is still not clear, whether these reflect shared consequences (i.e., cognitive and behavioral profile) or shared causes. The present systematic review aims at exploring the similarities and differences identified in empirical studies investigating both functional illiterate and developmental dyslexic samples. Nine electronic databases were searched in order to identify all quantitative studies published in English or German. Although a broad search strategy and few limitations were applied, only 5 studies have been identified adequate from the resulting 9269 references. The results point to the lack of studies directly comparing functional illiterate with developmental dyslexic samples. Moreover, a huge variance has been identified between the studies in how they approached the concept of functional illiteracy, particularly when it came to critical categories such the applied definition, terminology, criteria for inclusion in the sample, research focus, and outcome measures. The available data highlight the need for more direct comparisons in order to understand what extent functional illiteracy and dyslexia share common characteristics.

Abstract

In this article we investigate how speakers manage discourse expectations in dialogue by comparing the meaning and use of three Dutch discourse particles, i.e. wel, toch and eigenlijk, which all express a contrast between their host utterance and a discourse-based expectation. The core meanings of toch, wel and eigenlijk are formally distinguished on the basis of two intersubjective parameters: (i) whether the particle marks alignment or misalignment between speaker and addressee discourse beliefs, and (ii) whether the particle requires an assessment of the addressee’s representation of mutual discourse beliefs. By means of a quantitative corpus study, we investigate to what extent the intersubjective meaning distinctions between wel, toch and eigenlijk are reflected in statistical usage patterns across different social situations. Results suggest that wel, toch and eigenlijk are lexicalizations of distinct generalized politeness strategies when expressing contrast in social interaction. Our findings call for an interdisciplinary approach to discourse particles in order to enhance our understanding of their functions in language.

Abstract

Controlling aggression is a crucial skill in social species like rodents and humans and has been associated with anterior cingulate cortex (ACC). Here, we directly link the failed regulation of aggression in BALB/cJ mice to ACC hypofunction. We first show that ACC in BALB/cJ mice is structurally degraded: neuron density is decreased, with pervasive neuron death and reactive astroglia. Gene-set enrichment analysis suggested that this process is driven by neuronal degeneration, which then triggers toxic astrogliosis. cFos expression across ACC indicated functional consequences: during aggressive encounters, ACC was engaged in control mice, but not BALB/cJ mice. Chemogenetically activating ACC during aggressive encounters drastically suppressed pathological aggression but left species-typical aggression intact. The network effects of our chemogenetic perturbation suggest that this behavioral rescue is mediated by suppression of amygdala and hypothalamus and activation of mediodorsal thalamus. Together, these findings highlight the central role of ACC in curbing pathological aggression.

Abstract

The language system uses syntactic, semantic, as well as prosodic cues to efficiently guide auditory sentence comprehension. Prosodic cues, such as pitch accents, can build expectations about upcoming sentence elements. This study investigates to what extent syntactic and semantic expectations generated by pitch accents can be dissociated and if so, which cues take precedence when contradictory information is present. We used sentences in which one out of two nominal constituents was placed in contrastive focus with a third one. All noun phrases carried overt syntactic information (case-marking of the determiner) and semantic information (typicality of the thematic role of the noun). Two experiments (a sentence comprehension and a sentence completion task) show that focus, marked by pitch accents, established expectations in both syntactic and semantic domains. However, only the syntactic expectations, when violated, were strong enough to interfere with sentence comprehension. Furthermore, when contradictory cues occurred in the same sentence, the local syntactic cue (case-marking) took precedence over the semantic cue (thematic role), and overwrote previous information cued by prosody. The findings indicate that during auditory sentence comprehension the processing system integrates different sources of information for argument role assignment, yet primarily relies on syntactic information.

Abstract

Written language, a human cultural invention, is far too recent for dedicated neural
infrastructure to have evolved in its service. Culturally newly acquired skills (e.g. reading) thus ‘recycle’ evolutionarily older circuits that originally evolved for different, but similar functions (e.g. visual object recognition). The destructive competition hypothesis predicts that this neuronal recycling has detrimental behavioral effects on the cognitive functions a cortical network originally evolved for. In a study with 97 literate, low-literate, and illiterate participants from the same socioeconomic background we find that even after adjusting for cognitive ability and test-taking familiarity, learning to read is associated with an increase, rather than a decrease, in object recognition abilities. These results are incompatible with the claim that neuronal recycling results in destructive competition and consistent with the possibility that learning to read instead fine-tunes general object recognition mechanisms, a hypothesis that needs further neuroscientific investigation.

Abstract

This paper presents a cognitive theory on the production and shaping of selfrepairs during speaking. In an extensive experimental study, a new technique is tried out: artificial elicitation of self-repairs. The data clearly indicate that two mechanisms for computing the shape of self-repairs should be distinguished. One is based on the repair strategy called reformulation, the second one on lemma substitution. W. Levelt’s (1983, Cognition, 14, 41- 104) well-formedness rule, which connects self-repairs to coordinate structures, is shown to apply only to reformulations. In case of lemma substitution, a totally different set of rules is at work. The linguistic unit of central importance in reformulations is the major syntactic constituent; in lemma substitutions it is a prosodic unit. the phonological phrase. A parametrization of the model yielded a very satisfactory fit between observed and reconstructed scores.