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 Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries.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

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

Abstract

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

Abstract

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

Abstract

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 strength of a memory trace is modulated by a variety of factors such as arousal, attention, context, type of processing during encoding, salience and novelty of the experience. Some of these factors can be modeled as a variable plasticity level in the memory system, controlled by arousal or relevance-estimating systems. We demonstrate that a Bayesian confidence propagation neural network with learning time constant modulated in this way exhibits enhanced recall of an item tagged as salient. Proactive and retroactive inhibition of other items is also demonstrated as well as an inverted U-shape response to overall plasticity

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

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

Abstract

This study reports data from two dysgraphic patients, TH and PB, whose errors in spelling most often occurred in the final part of words. The probability of making an error increased monotonically towards the end of words. Long words were affected more than short words, and performance was similar across different output modalities (writing, typing and oral spelling). This error performance was found despite the fact that both patients showed normal ability to repeat the same words orally and to access their full spelling in tasks that minimized the involvement of working memory. This pattern of performance locates their deficit to the mechanism that keeps graphemic representations active for further processing, and shows that the functioning of this mechanism is not controlled or "refreshed" by phonological (or articulatory) processes. Although the overall performance pattern is most consistent with a deficit to the graphemic buffer, the strong tendency for errors to occur at the ends of words is unlike many classic "graphemic buffer patients" whose errors predominantly occur at word-medial positions. The contrasting patterns are discussed in terms of different types of impairment to the graphemic buffer.

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

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

Abstract

(TMCD 9602). Taipei: Trees Music & Art, 12-1, Lane 10, Sec. 2, Hsin Yi Rd. Taipei, TAIWAN. Distributed by Sony Music Entertainment (Taiwan)Ltd.,6th fl. No 35 , Lane 11, Kwang-Fu N. Rd., Taipei TAIWAN (CD accompanied by a full color bucklet)

Abstract

Members of the MPI for Psycholinguistics are researching the interrelationship between language, cognition and the conceptualization of space in various languages. Research results show that there are three frames of spatial reference, the absolute, the relative, and the intrinsic frame of reference. This study first presents results of this research in general and then discusses the results for Kilivila. Speakers of this Austronesian language prefer the intrinsic frame of reference for the location of objects with respect to each other in a given spatial configuration. But they prefer an absolute frame of reference system in referring to the spatial orientation of objects in a given
spatial configuration. Moreover, the hypothesis is confirmed that languages seem to influence the choice and the kind of conceptual parameters their speakers use to solve non-verbal problems within the domain of space.

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

This paper is an attempt to show that given the available observations on the behaviour of negation and presuppositions there is no simpler explanation than to assume that natural language has two distinct negation operators, the minimal negation which preserves presuppositions and the radical negation which does not. The three-valued logic emerging from this distinction, and especially its model-theory, are discussed in detail. It is, however, stressed that the logic itself is only epiphenomenal on the structures and processes involved in the interpretation of sentences. Horn (1985) brings new observations to bear, related with metalinguistic uses of negation, and proposes a “pragmatic” ambiguity in negation to the effect that in descriptive (or “straight”) use negation is the classical bivalent operator, whereas in metalinguistic use it is non-truthfunctional but only pragmatic. Van der Sandt (to appear) accepts Horn's observations but proposes a different solution: he proposes an ambiguity in the argument clause of the negation operator (which, for him, too, is classical and bivalent), according to whether the negation takes only the strictly asserted proposition or covers also the presuppositions, the (scalar) implicatures and other implications (in particular of style and register) of the sentence expressing that proposition. These theories are discussed at some length. The three-valued analysis is defended on the basis of partly new observations, which do not seem to fit either Horn's or Van der Sandt's solution. It is then placed in the context of incremental discourse semantics, where both negations are seen to do the job of keeping increments out of the discourse domain, though each does so in its own specific way. The metalinguistic character of the radical negation is accounted for in terms of the incremental apparatus. The metalinguistic use of negation in denials of implicatures or implications of style and register is regarded as a particular form of minimal negation, where the negation denies not the proposition itself but the appropriateness of the use of an expression in it. This appropriateness negation is truth-functional and not pragmatic, but it applies to a particular, independently motivated, analysis of the argument clause. The ambiguity of negation in natural language is different from the ordinary type of ambiguity found in the lexicon. Normally, lexical ambiguities are idiosyncratic, highly contingent, and unpredictable from language to language. In the case of negation, however, the two meanings are closely related, both truth-conditionally and incrementally. Moreover, the mechanism of discourse incrementation automatically selects the right meaning. These properties are taken to provide a sufficient basis for discarding the, otherwise valid, objection that negation is unlikely to be ambiguous because no known language makes a lexical distinction between the two readings.

Abstract

The prime purpose of this paper is, first, to restore to discourse-bound occasion sentences their rightful central place in semantics and secondly, taking these as the basic propositional elements in the logical analysis of language, to contribute to the development of an adequate logic of occasion sentences and a mathematical (Boolean) foundation for such a logic, thus preparing the ground for more adequate semantic, logical and mathematical foundations of the study of natural language. Some of the insights elaborated in this paper have appeared in the literature over the past thirty years, and a number of new developments have resulted from them. The present paper aims atproviding an integrated conceptual basis for this new development in semantics. In Section 1 it is argued that the reduction by translation of occasion sentences to eternal sentences, as proposed by Russell and Quine, is semantically and thus logically inadequate. Natural language is a system of occasion sentences, eternal sentences being merely boundary cases. The logic hasfewer tasks than is standardly assumed, as it excludes semantic calculi, which depend crucially on information supplied by cognition and context and thus belong to cognitive psychology rather than to logic. For sentences to express a proposition and thus be interpretable and informative, they must first be properly anchored in context. A proposition has a truth value when it is, moreover, properly keyed in the world, i.e. is about a situation in the world. Section 2 deals with the logical properties of natural language. It argues that presuppositional phenomena require trivalence and presents the trivalent logic PPC3, with two kinds of falsity and two negations. It introduces the notion of Σ-space for a sentence A (or A/A, the set of situations in which A is true) as the basis of logical model theory, and the notion of PA/ (the Σ-space of the presuppositions of A), functioning as a `private' subuniverse for A/A. The trivalent Kleene calculus is reinterpreted as a logical account of vagueness, rather than of presupposition. PPC3 and the Kleene calculus are refinements of standard bivalent logic and can be combined into one logical system. In Section 3 the adequacy of PPC3 as a truth-functional model of presupposition is considered more closely and given a Boolean foundation. In a noncompositional extended Boolean algebra, three operators are defined: 1a for the conjoined presuppositions of a, ã for the complement of a within 1a, and â for the complement of 1a within Boolean 1. The logical properties of this extended Boolean algebra are axiomatically defined and proved for all possible models. Proofs are provided of the consistency and the completeness of the system. Section 4 is a provisional exploration of the possibility of using the results obtained for a new discourse-dependent account of the logic of modalities in natural language. The overall result is a modified and refined logical and model-theoretic machinery, which takes into account both the discourse-dependency of natural language sentences and the necessity of selecting a key in the world before a truth value can be assigned

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

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

Leprosy, a chronic infectious disease caused by Mycobacterium leprae, is prevalent in India, where about half of the world's estimated 800,000 cases occur. A role for the genetics of the host in variable susceptibility to leprosy has been indicated by familial clustering, twin studies, complex segregation analyses and human leukocyte antigen (HLA) association studies. We report here a genetic linkage scan of the genomes of 224 families from South India, containing 245 independent affected sibpairs with leprosy, mainly of the paucibacillary type. In a two-stage genome screen using 396 microsatellite markers, we found significant linkage (maximum lod score (MLS) = 4.09, P < 2x10-5) on chromosome 10p13 for a series of neighboring microsatellite markers, providing evidence for a major locus for this prevalent infectious disease. Thus, despite the polygenic nature of infectious disease susceptibility, some major, non-HLA-linked loci exist that may be mapped through obtainable numbers of affected sibling pairs.

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

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

Abstract

This article is concerned with the question of how listeners recognize coarticulated phonemes. The problem is approached from a pattern classificationperspective. First, the potential acoustical effects of coarticulation are defined in terms of the patterns that form the input to a classifier.Next, a categorization model called HICAT is introduced that incorporates hierarchical dependencies to optimally dealwith this input. The model allows the position, orientation, and steepness of one phoneme boundary to depend on the perceivedvalue of a neighboring phoneme. It is argued that, if listeners do behave like statistical pattern recognizers, they may use the categorization strategies incorporated in the model. The HICAT model is compared with existing categorizationmodels, among which are the fuzzylogical model of perception and Nearey’s diphone-biased secondary-cuemodel. Finally, a method is presented by which categorization strategies that are likely to be used by listeners can be predicted from distributions of acoustical cues as they occur in natural speech.

Abstract

The reported research investigates how listeners recognize coarticulated phonemes. First, 2 data sets from experiments on the recognition of coarticulated phonemes published by D. H. Whalen (1989) are reanalyzed. The analyses indicate that listeners used categorization strategies involving a hierarchical dependency. Two new experiments are reported investigating the production and perception of fricative-vowel syllables. On the basis of measurements of acoustic cues on a large set of natural utterances, it was predicted that listeners would use categorization strategies involving a dependency of the fricative categorization on the perceived vowel. The predictions were tested in a perception experiment using a 2-dimensional synthetic fricative-vowel continuum. Model analyses of the results pooled across listeners confirmed the predictions. Individual analyses revealed some variability in the categorization dependencies used by different participants.

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

Four cross-modal priming experiments in Spanish addressed the role of suprasegmental and segmental information in the activation of spoken words. Listeners heard neutral sentences ending with word fragments (e.g., princi-) and made lexical decisions on letter strings presented at fragment offset. Responses were compared for fragment primes that fully matched the spoken form of the initial portion of target words, versus primes that mismatched in a single element (stress pattern; one vowel; one consonant), versus control primes. Fully matching primes always facilitated lexical decision responses, in comparison to the control condition, while mismatching primes always produced inhibition. The respective strength of the contribution of stress, vowel, and consonant (one feature mismatch or more) information did not differ statistically. The results support a model of spoken-word recognition involving automatic activation of word forms and competition between activated words, in which the activation process is sensitive to all acoustic information relevant to the language’s phonology.

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

This study investigates whether spoken sentence comprehension deficits in Broca's aphasics results from their inability to access the subordinate meaning of ambiguous words (e.g. bank), or alternatively, from a delay in their selection of the contextually appropriate meaning. Twelve Broca's aphasics and twelve elderly controls were presented with lexical ambiguities in three context conditions, each followed by the same target words. In the concordant condition, the sentence context biased the meaning of the sentence final ambiguous word that was related to the target. In the discordant condition, the sentence context biased the meaning of the sentence final ambiguous word that was incompatible with the target.In the unrelated condition, the sentence-final word was unambiguous and unrelated to the target. The task of the subjects was to listen attentively to the stimuli The activational status of the ambiguous sentence-final words was inferred from the amplitude of the N399 to the targets at two inter-stimulus intervals (ISIs) (100 ms and 1250 ms). At the short ISI, the Broca's aphasics showed clear evidence of activation of the subordinate meaning. In contrast to elderly controls, however, the Broca's aphasics were not successful at selecting the appropriate meaning of the ambiguity in the short ISI version of the experiment. But at the long ISI, in accordance with the performance of the elderly controls, the patients were able to successfully complete the contextual selection process. These results indicate that Broca's aphasics are delayed in the process of contextual selection. It is argued that this finding of delayed selection is compatible with the idea that comprehension deficits in Broca's aphasia result from a delay in the process of integrating lexical information.

Abstract

This volume on Inuit speech follows the evolution of a native language of the North American Arctic, from its historical roots to its present-day linguistic structure and patterns of use from Alaska to Greenland. Drawing on a wide range of research from the fields of linguistics, anthropology, and sociology, Dorais integrates these diverse perspectives in a comprehensive view of native language development, maintenance, and use under conditions of marginalization due to social transition.

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

The first part of this paper describes an unusual system of anaphoric reference tracking in Lavukaleve, a Papuan language of the Solomon Islands. Lavukaleve has two demonstrative pronouns which can be used to make anaphoric reference in narratives. One of these demonstrative pronouns is used to make anaphoric reference to a semi-activated participant, and the other to an activated participant. The second part of the paper situates Lavukaleve's activation-based system of reference tracking in a general typology of reference tracking. Other languages which have reference tracking systems based on the cognitive status of the referent are discussed, and the close connection between these and obviation systems is pointed out.

Abstract

This study investigates the role of performance limitations in children's early acquisition of verb-argument structure. Valian (1991) claims that intransitive frames are easier for children to produce early in development than transitive frames because they do not require a direct object argument. Children who understand this distinction are expected to produce a lower proportion of transitive verb utterances early in development in comparison with later stages of development and to omit direct objects much more frequently with mixed verbs (where direct objects are optional) than with transitive verbs. To test these claims, data from nine children aged between 1;10.7 and 2;0.25 matched with Valian's subjects on MLU were examined. When analysed in terms of abstract syntactic structures Valian's findings are supported. However, a detailed lexical analysis of the data suggests that the children were not selecting argument structure on the basis of syntactic complexity. Instead, a clear predictor of the frames used by the children with specific verbs was the frames used by the children's mothers with those same verbs, regardless of whether they were transitive or intransitive. This suggests that the most important determinant of the children's use of verb frame was the specific patterns of verb use in the input rather than abstract grammatical knowledge constrained by performance limitations. The implications of these findings for performance-based explanations for children's early errors and early patterns of language use are discussed.

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.