Publications

Abstract

The production of cohesive discourse, especially maintained reference, poses problems for early second language (L2) speakers. This paper considers a communicative account of overexplicit L2 discourse by focusing on the interdependence between spoken and gestural cohesion, the latter being expressed by anchoring of referents in gesture space. Specifically, this study investigates whether overexplicit maintained reference in speech (lexical noun phrases [NPs]) and gesture (anaphoric gestures) constitutes an interactional communication strategy. We examine L2 speech and gestures of 16 Dutch learners of French retelling stories to addressees under two visibility conditions. The results indicate that the overexplicit properties of L2 speech are not motivated by interactional strategic concerns. The results for anaphoric gestures are more complex. Although their presence is not interactionally

Abstract

A neurobiological model of language is discussed that overcomes the shortcomings of the classical Wernicke-Lichtheim-Geschwind model. It is based on a subdivision of language processing into three components: Memory, Unification, and Control. The functional components as well as the neurobiological underpinnings of the model are discussed. In addition, the need for extension beyond the classical core regions for language is shown. Attentional networks as well as networks for inferential processing are crucial to realize language comprehension beyond single word processing and beyond decoding propositional content.

Abstract

In a study by Milberg, Blumstein, and Dworetzky (1987), normal control subjects and Wernicke's and Broca's aphasics performed a lexical decision task on the third element of auditorily presented triplets of words with either a word or a nonword as target. In three of the four types of word triplets, the first and the third words were related to one or both meanings of the second word, which was semantically ambiguous. The fourth type of word triplet consisted of three unrelated, unambiguous words, functioning as baseline. Milberg et al. (1987) claim that the results for their control subjects are similar to those reported by Schvaneveldt, Meyer, and Becker's original study (1976) with the same prime types, and so interpret these as evidence for a selective lexical access of the different meanings of ambiguous words. It is argued here that Milberg et al. only partially replicate the Schvaneveldt et al. results. Moreover, the results of Milberg et al. are not fully in line with the selective access hypothesis adopted. Replication of the Milberg et al. (1987) study with Dutch materials, using both a design without and a design with repetition of the same target words for the same subjects led to the original pattern as reported by Schvaneveldt et al. (1976). In the design with four separate presentations of the same target word, a strong repetition effect was found. It is therefore argued that the discrepancy between the Milberg et al. results on the one hand, and the Schvaneveldt et al. results on the other, might be due to the absence of a control for repetition effects in the within-subject design used by Milberg et al. It is concluded that this makes the results for both normal and aphasic subjects in the latter study difficult to interpret in terms of a selective access model for normal processing.

Abstract

We explore the nature of the oscillatory dynamics in the EEG of subjects reading sentences that contain a semantic violation. More specifically, we examine whether increases in theta (≈3–7 Hz) and gamma (around 40 Hz) band power occur in response to sentences that were either semantically correct or contained a semantically incongruent word (semantic violation). ERP results indicated a classical N400 effect. A wavelet-based time-frequency analysis revealed a theta band power increase during an interval of 300–800 ms after critical word onset, at temporal electrodes bilaterally for both sentence conditions, and over midfrontal areas for the semantic violations only. In the gamma frequency band, a predominantly frontal power increase was observed during the processing of correct sentences. This effect was absent following semantic violations. These results provide a characterization of the oscillatory brain dynamics, and notably of both theta and gamma oscillations, that occur during language comprehension.

Abstract

What would your ideas about language evolution be if there was only one language left on earth? Fortunately, our investigation need not be that impoverished. In the present article, we survey the state of knowledge regarding the kinds of language found among humans, the language inventory, population sizes, time depth, grammatical variation, and other relevant issues that a theory of language evolution should minimally take into account

Abstract

Introduction: Navigation is a fundamental and multidimensional cognitive function that individuals rely on to move around the environment. In this study, we investigated the neural basis of human spatial navigation ability. Methods: A large cohort of participants (N > 200) was examined on their navigation ability behaviorally and structural and functional magnetic resonance imaging (MRI) were then used to explore the corresponding neural basis of spatial navigation. Results: The gray matter volume (GMV) of the bilateral parahippocampus (PHG), retrosplenial complex (RSC), entorhinal cortex (EC), hippocampus (HPC), and thalamus (THAL) was correlated with the participants’ self-reported navigational ability in general, and their sense of direction in particular. Further fMRI studies showed that the PHG, RSC, and EC selectively responded to visually presented scenes, whereas the HPC and THAL showed no selectivity, suggesting a functional division of labor among these regions in spatial navigation. The resting-state functional connectivity analysis further revealed a hierarchical neural network for navigation constituted by these regions, which can be further categorized into three relatively independent components (i.e., scene recognition component, cognitive map component, and the component of heading direction for locomotion, respectively). Conclusions: Our study combined multi-modality imaging data to illustrate that multiple brain regions may work collaboratively to extract, integrate, store, and orientate spatial information to guide navigation behaviors.

Abstract

Personal pronouns have been shown to influence cognitive perspective taking during comprehension. Studies using single sentences found that 3rd person pronouns facilitate the construction of a mental model from an observer’s perspective, whereas 2nd person pronouns support an actor’s perspective. The direction of the effect for 1st person pronouns seems to depend on the situational context. In the present study, we investigated how personal pronouns influence discourse comprehension when people read fiction stories and if this has consequences for affective components like emotion during reading or appreciation of the story. We wanted to find out if personal pronouns affect immersion and arousal, as well as appreciation of fiction. In a natural reading paradigm, we measured electrodermal activity and story immersion, while participants read literary stories with 1st and 3rd person pronouns referring to the protagonist. In addition, participants rated and ranked the stories for appreciation. Our results show that stories with 1st person pronouns lead to higher immersion. Two factors—transportation into the story world and mental imagery during reading—in particular showed higher scores for 1st person as compared to 3rd person pronoun stories. In contrast, arousal as measured by electrodermal activity seemed tentatively higher for 3rd person pronoun stories. The two measures of appreciation were not affected by the pronoun manipulation. Our findings underscore the importance of perspective for language processing, and additionally show which aspects of the narrative experience are influenced by a change in perspective.

Abstract

Comparatively little is known about the inherited primate background underlying human cognition, the human cognitive “wild-type.” Yet it is possible to trace the evolution of human cognitive abilities and tendencies by contrasting the skills of our nearest cousins, not just chimpanzees, but all the extant great apes, thus showing what we are likely to have inherited from the common ancestor [1]. By looking at human infants early in cognitive development, we can also obtain insights into native cognitive biases in our species [2]. Here, we focus on spatial memory, a central cognitive domain. We show, first, that all nonhuman great apes and 1-year-old human infants exhibit a preference for place over feature strategies for spatial memory. This suggests the common ancestor of all great apes had the same preference. We then examine 3-year-old human children and find that this preference reverses. Thus, the continuity between our species and the other great apes is masked early in human ontogeny. These findings, based on both phylogenetic and ontogenetic contrasts, open up the prospect of a systematic evolutionary psychology resting upon the cladistics of cognitive preferences.

Abstract

Current approaches to human cognition often take a strong nativist stance based on Western adult performance, backed up where possible by neonate and infant research and almost never by comparative research across the Hominidae. Recent research suggests considerable cross-cultural differences in cognitive strategies, including relational thinking, a domain where infant research is impossible because of lack of cognitive maturation. Here, we apply the same paradigm across children and adults of different cultures and across all nonhuman great ape genera. We find that both child and adult spatial cognition systematically varies with language and culture but that, nevertheless, there is a clear inherited bias for one spatial strategy in the great apes. It is reasonable to conclude, we argue, that language and culture mask the native tendencies in our species. This cladistic approach suggests that the correct perspective on human cognition is neither nativist uniformitarian nor ‘‘blank slate’’ but recognizes the powerful impact that language and culture can have on our shared primate cognitive biases.

Abstract

In the present electroencephalographical study, we asked to which extent executive control processes are shared by both the language and motor domain. The rationale was to examine whether executive control processes whose efficiency is reinforced by the frequent use of a second language can lead to a benefit in the control of eye movements, i.e. a non-linguistic activity. For this purpose, we administrated to 19 highly proficient late French-German bilingual participants and to a control group of 20 French monolingual participants an antisaccade task, i.e. a specific motor task involving control. In this task, an automatic saccade has to be suppressed while a voluntary eye movement in the opposite direction has to be carried out. Here, our main hypothesis is that an advantage in the antisaccade task should be observed in the bilinguals if some properties of the control processes are shared between linguistic and motor domains. ERP data revealed clear differences between bilinguals and monolinguals. Critically, we showed an increased N2 effect size in bilinguals, thought to reflect better efficiency to monitor conflict, combined with reduced effect sizes on markers reflecting inhibitory control, i.e. cue-locked positivity, the target-locked P3 and the saccade-locked presaccadic positivity (PSP). Moreover, effective connectivity analyses (dynamic causal modelling; DCM) on the neuronal source level indicated that bilinguals rely more strongly on ACC-driven control while monolinguals rely on PFC-driven control. Taken together, our combined ERP and effective connectivity findings may reflect a dynamic interplay between strengthened conflict monitoring, associated with subsequently more efficient inhibition in bilinguals. Finally, L2 proficiency and immersion experience constitute relevant factors of the language background that predict efficiency of inhibition. To conclude, the present study provided ERP and effective connectivity evidence for domain-general executive control involvement in handling multiple language use, leading to a control advantage in bilingualism.

Abstract

Interrogative structures such as ‘Could you pass the salt? and ‘Couldn’t you pass the salt?’ can be used for making requests. A study of such pairs within a conversation analytic framework suggests that these are not used interchangeably, and that they have different impacts on the interaction. Focusing on Danish interactions between elderly care recipients and their home help assistants, I demonstrate how the care recipient displays different degrees of stance towards whether she is entitled to make a request or not, depending on whether she formats her request as a positive or a negative interrogative. With a positive interrogative request, the care recipient orients to her request as one she is not entitled to make. This is underscored by other features, such as the use of mitigating devices and the choice of verb. When accounting for this type of request, the care recipient ties the request to the specific situation she is in, at the moment in which the request is produced. In turn, the home help assistant orients to the lack of entitlement by resisting the request. With a negative interrogative request, the care recipient, in contrast, orients to her request as one she is entitled to make. This is strengthened by the choice of verb and the lack of mitigating devices. When such requests are accounted for, the requested task is treated as something that should be routinely performed, and hence as something the home help assistant has neglected to do. In turn, the home help assistant orients to the display of entitlement by treating the request as unproblematic, and by complying with it immediately.

Abstract

Many studies have shown that a supportive context facilitates language comprehension. A currently influential view is that language production may support prediction in language comprehension. Experimental evidence for this, however, is relatively sparse. Here we explored whether encouraging prediction in a language production task encourages the use of predictive contexts in an interleaved comprehension task. In Experiment 1a, participants listened to the first part of a sentence and provided the final word by naming aloud a picture. The picture name was predictable or not predictable from the sentence context. Pictures were named faster when they could be predicted than when this was not the case. In Experiment 1b the same sentences, augmented by a final spill-over region, were presented in a self-paced reading task. No difference in reading times for predictive vs. non-predictive sentences was found. In Experiment 2, reading and naming trials were intermixed. In the naming task, the advantage for predictable picture names was replicated. More importantly, now reading times for the spill-over region were considerable faster for predictive vs. non-predictive sentences. We conjecture that these findings fit best with the notion that prediction in the service of language production encourages the use of predictive contexts in comprehension. Further research is required to identify the exact mechanisms by which production exerts its influence on comprehension.

Abstract

When faced with the noun phrase (NP) versus sentence (S) coordination ambiguity as in, for example, The thief shot the jeweller and the cop hellip, readers prefer the reading with NP-coordination (e.g., "The thief shot the jeweller and the cop yesterday") over one with two conjoined sentences (e.g., "The thief shot the jeweller and the cop panicked"). A corpus study is presented showing that NP-coordinations are produced far more often than S-coordinations, which in frequency-based accounts of parsing might be taken to explain the NP-coordination preference. In addition, we describe an eye-tracking experiment investigating S-coordinated sentences such as Jasper sanded the board and the carpenter laughed, where the poor thematic fit between carpenter and sanded argues against NP-coordination. Our results indicate that information regarding poor thematic fit was used rapidly, but not without leaving some residual processing difficulty. This is compatible with claims that thematic information can reduce but not completely eliminate garden-path effects.

Abstract

The importance of high quality teacher–student relationships for students' well-being has been long documented. Nonetheless, most studies focus either on teachers' perceptions of provided support or on students' perceptions of support. The degree to which teachers and students agree is often neither measured nor taken into account. In the current study, we will therefore use a dyadic analysis strategy called the one-with-many design. This design takes into account the nestedness of the data and looks at the importance of reciprocity when examining the influence of teacher support for students' academic and social functioning. Two samples of teachers and their students from Grade 4 (age 9–10 years) have been recruited in primary schools, located in Turkey and Romania. By using the one-with-many design we can first measure to what degree teachers' perceptions of support are in line with students' experiences. Second, this level of consensus is taken into account when examining the influence of teacher support for students' social well-being and academic functioning.

Abstract

The functional region of interest (fROI) approach has increasingly become a favored methodology in functional magnetic resonance imaging (fMRI) because it can circumvent inter-subject anatomical and functional variability, and thus increase the sensitivity and functional resolution of fMRI analyses. The standard fROI method requires human experts to meticulously examine and identify subject-specific fROIs within activation clusters. This process is time-consuming and heavily dependent on experts’ knowledge. Several algorithmic approaches have been proposed for identifying subject-specific fROIs; however, these approaches cannot easily incorporate prior knowledge of inter-subject variability. In the present study, we improved the multi-atlas labeling approach for defining subject-specific fROIs. In particular, we used a classifier-based atlas-encoding scheme and an atlas selection procedure to account for the large spatial variability across subjects. Using a functional atlas database for face recognition, we showed that with these two features, our approach efficiently circumvented inter-subject anatomical and functional variability and thus improved labeling accuracy. Moreover, in comparison with a single-atlas approach, our multi-atlas labeling approach showed better performance in identifying subject-specific fROIs.

Abstract

Native speakers of Dutch do not always adhere to prescriptive grammar rules in their daily speech. These grammatical norm violations can elicit emotional reactions in language purists, mostly high-educated people, who claim that for them these constructions are truly ungrammatical. However, linguists generally assume that grammatical norm violations are in fact truly grammatical, especially when they occur frequently in a language. In an fMRI study we investigated the processing of grammatical norm violations in the brains of language purists, and compared them with truly grammatical and truly ungrammatical sentences. Grammatical norm violations were found to be unique in that their processing resembled not only the processing of truly grammatical sentences (in left medial Superior Frontal Gyrus and Angular Gyrus), but also that of truly ungrammatical sentences (in Inferior Frontal Gyrus), despite what theories of grammar would usually lead us to believe

Abstract

It is now well established that anticipation of up-coming input is a key characteristic of spoken language comprehension. Several mechanisms of predictive language processing have been proposed. The possible influence of mediating factors such as working memory and processing speed however has hardly been explored. We sought to find evidence for such an influence using an individual differences approach. 105 participants from 32 to 77 years of age received spoken instructions (e.g., "Kijk naar deCOM afgebeelde pianoCOM" - look at the displayed piano) while viewing four objects. Articles (Dutch “het” or “de”) were gender-marked such that the article agreed in gender only with the target. Participants could thus use gender information from the article to predict the upcoming target object. The average participant anticipated the target objects well in advance of the critical noun. Multiple regression analyses showed that working memory and processing speed had the largest mediating effects: Enhanced working memory abilities and faster processing speed supported anticipatory spoken language processing. These findings suggest that models of predictive language processing must take mediating factors such as working memory and processing speed into account. More generally, our results are consistent with the notion that working memory grounds language in space and time, linking linguistic and visual-spatial representations.

Abstract

Many psycholinguistic experiments suggest that prediction is an important characteristic of language processing. Some recent theoretical accounts in the cognitive sciences (e.g., Clark, 2013; Friston, 2010) and psycholinguistics (e.g., Dell & Chang, 2014) appear to suggest that prediction is even necessary to understand language. In the present opinion paper we evaluate this proposal. We first critically discuss several arguments that may appear to be in line with the notion that prediction is necessary for language processing. These arguments include that prediction provides a unified theoretical principle of the human mind and that it pervades cortical function. We discuss whether evidence of human abilities to detect statistical regularities is necessarily evidence for predictive processing and evaluate suggestions that prediction is necessary for language learning. Five arguments are then presented that question the claim that all language processing is predictive in nature. We point out that not all language users appear to predict language and that suboptimal input makes prediction often very challenging. Prediction, moreover, is strongly context-dependent and impeded by resource limitations. We also argue that it may be problematic that most experimental evidence for predictive language processing comes from 'prediction-encouraging' experimental set-ups. Finally, we discuss possible ways that may lead to a further resolution of this debate. We conclude that languages can be learned and understood in the absence of prediction. Claims that all language processing is predictive in nature are premature.

Abstract

In the visual world paradigm, participants are more likely to fixate a visual referent that has some semantic relationship with a heard word, than they are to fixate an unrelated referent [Cooper, R. M. (1974). The control of eye fixation by the meaning of spoken language. A new methodology for the real-time investigation of speech perception, memory, and language processing. Cognitive Psychology, 6, 813–839]. Here, this method is used to examine the psychological validity of models of high-dimensional semantic space. The data strongly suggest that these corpus-based measures of word semantics predict fixation behavior in the visual world and provide further evidence that language-mediated eye movements to objects in the concurrent visual environment are driven by semantic similarity rather than all-or-none categorical knowledge. The data suggest that the visual world paradigm can, together with other methodologies, converge on the evidence that may help adjudicate between different theoretical accounts of the psychological semantics.

Abstract

We examined whether assortative mating for educational attainment (“like marries like”) can be detected in the genomes of ~ 1600 UK spouse pairs of European descent. Assortative mating on heritable traits like educational attainment increases the genetic variance and heritability of the trait in the population, which may increase social inequalities. We test for genetic assortative mating in the UK on educational attainment, a phenotype that is indicative of socio-economic status and has shown substantial levels of assortative mating. We use genome-wide allelic effect sizes from a large genome-wide association study on educational attainment (N ~ 300 k) to create polygenic scores that are predictive of educational attainment in our independent sample (r = 0.23, p < 2 × 10− 16). The polygenic scores significantly predict partners' educational outcome (r = 0.14, p = 4 × 10− 8 and r = 0.19, p = 2 × 10− 14, for prediction from males to females and vice versa, respectively), and are themselves significantly correlated between spouses (r = 0.11, p = 7 × 10− 6). Our findings provide molecular genetic evidence for genetic assortative mating on education in the UK

Abstract

A combination of impaired motor and cognitive function in Parkinson’s disease (PD) can impact on language and communication, with patients exhibiting a particular difficulty processing action verbs. Co-speech gestures embody a link between action and language and contribute significantly to communication in healthy people. Here, we investigated how co-speech gestures depicting actions are affected in PD, in particular with respect to the visual perspective—or the viewpoint – they depict. Gestures are closely related to mental imagery and motor simulations, but people with PD may be impaired in the way they simulate actions from a first-person perspective and may compensate for this by relying more on third-person visual features. We analysed the action-depicting gestures produced by mild-moderate PD patients and age-matched controls on an action description task and examined the relationship between gesture viewpoint, action naming, and performance on an action observation task (weight judgement). Healthy controls produced the majority of their action gestures from a first-person perspective, whereas PD patients produced a greater proportion of gestures produced from a third-person perspective. We propose that this reflects a compensatory reliance on third-person visual features in the simulation of actions in PD. Performance was also impaired in action naming and weight judgement, although this was unrelated to gesture viewpoint. Our findings provide a more comprehensive understanding of how action-language impairments in PD impact on action communication, on the cognitive underpinnings of this impairment, as well as elucidating the role of action simulation in gesture production

Abstract

This paper examines how gesturers and signers use their bodies to express concepts such as instrumentality and humanness. Comparing across eight sign languages (American, Japanese, German, Israeli, and Kenyan Sign Languages, Ha Noi Sign Language of Vietnam, Central Taurus Sign Language of Turkey, and Al-Sayyid Bedouin Sign Language of Israel) and the gestures of American non-signers, we find recurring patterns for naming entities in three semantic categories (tools, animals, and fruits & vegetables). These recurring patterns are captured in a classification system that identifies iconic strategies based on how the body is used together with the hands. Across all groups, tools are named with manipulation forms, where the head and torso represent those of a human agent. Animals tend to be identified with personification forms, where the body serves as a map for a comparable non-human body. Fruits & vegetables tend to be identified with object forms, where the hands act independently from the rest of the body to represent static features of the referent. We argue that these iconic patterns are rooted in using the body for communication, and provide a basis for understanding how meaningful communication emerges quickly in gesture and persists in emergent and established sign languages.

Abstract

Background Peripartum depression is a common cause of pregnancy- and postpartum-related morbidity. The production of corticotropin-releasing hormone (CRH) from the placenta alters the profile of hypothalamus–pituitary–adrenal axis hormones and may be associated with postpartum depression. The purpose of this study was to assess, in nondepressed pregnant women, the possible association between CRH levels in pregnancy and depressive symptoms postpartum. Methods A questionnaire containing demographic data and the Edinburgh Postnatal Depression Scale (EPDS) was filled in gestational weeks 17 and 32, and 6 week postpartum. Blood samples were collected in week 17 for assessment of CRH. A logistic regression model was constructed, using postpartum EPDS score as the dependent variable and log-transformed CRH levels as the independent variable. Confounding factors were included in the model. Subanalyses after exclusion of study subjects with preterm birth, newborns small for gestational age (SGA), and women on corticosteroids were performed. Results Five hundred thirty-five women without depressive symptoms during pregnancy were included. Logistic regression showed an association between high CRH levels in gestational week 17 and postpartum depressive symptoms, before and after controlling for several confounders (unadjusted OR = 1.11, 95% CI 1.01–1.22; adjusted OR = 1.13, 95% CI 1.02–1.26; per 0.1 unit increase in log CRH). Exclusion of women with preterm birth and newborns SGA as well as women who used inhalation corticosteroids during pregnancy did not alter the results. Conclusions This study suggests an association between high CRH levels in gestational week 17 and the development of postpartum depressive symptoms, among women without depressive symptoms during pregnancy.

Abstract

This article presents the results of a meta-analysis of 30 hemodynamic experiments comparing first language (L1) and second language (L2) processing in a range of tasks. The results suggest that reliably stronger activation during L2 processing is found (a) only for task-specific subgroups of L2 speakers and (b) within some, but not all regions that are also typically activated in native language processing. A tentative interpretation based on the functional roles of frontal and temporal regions is suggested.

Abstract

This volume is a harvest of articles from the first conference in a series on the cognitive neuroscience of language. The first conference focused on the cognitive neuroscience of second language acquisition (henceforth SLA). It brought together experts from as diverse fields as second language acquisition, bilingualism, cognitive neuroscience, and neuroanatomy. The articles and discussion articles presented here illustrate state-of-the-art findings and represent a wide range of theoretical approaches to classic as well as newer SLA issues. The theoretical themes cover age effects in SLA related to the so-called Critical Period Hypothesis and issues of ultimate attainment and focus both on age effects pertaining to childhood and to aging. Other familiar SLA topics are the effects of proficiency and learning as well as issues concerning the difference between the end product and the process that yields that product, here discussed in terms of convergence and degeneracy. A topic more related to actual usage of a second language once acquired concerns how multilingual speakers control and regulate their two languages.

Abstract

We used ERPs to investigate the pre-activation of form and meaning in language comprehension. Participants read high-cloze sentence contexts (e.g., “The student is going to the library to borrow a…”), followed by a word that was predictable (book), form-related (hook) or semantically related (page) to the predictable word, or unrelated (sofa). At a 500 ms SOA (Experiment 1), semantically related words, but not form-related words, elicited a reduced N400 compared to unrelated words. At a 700 ms SOA (Experiment 2), semantically related words and form-related words elicited reduced N400 effects, but the effect for form-related words occurred in very high-cloze sentences only. At both SOAs, form-related words elicited an enhanced, post-N400 posterior positivity (Late Positive Component effect). The N400 effects suggest that readers can pre-activate meaning and form information for highly predictable words, but form pre-activation is more limited than meaning pre-activation. The post-N400 LPC effect suggests that participants detected the form similarity between expected and encountered input. Pre-activation of word forms crucially depends upon the time that readers have to make predictions, in line with production-based accounts of linguistic prediction.

Abstract

Research has shown that Broca’s and Wernicke’s aphasic patients show different impairments in auditory lexical processing. The results of an experiment with form-overlapping primes showed an inhibitory effect of form-overlap for control adults and a weak inhibition trend for Broca’s aphasic patients, but a facilitatory effect of form-overlap was found for Wernicke’s aphasic participants. This suggests that Wernicke’s aphasic patients are mainly impaired in suppression of once-activated word candidates and selection of one winning candidate, which may be related to their problems in auditory language comprehension.

Abstract

Coevolving systems are notoriously difficult to understand. This is largely due to the Red Queen effect that dictates heterospecific fitness interdependence. In simulation studies of coevolving systems, master tournaments are often used to obtain more informed fitness measures by testing evolved individuals against past and future opponents. However, such tournaments still contain certain ambiguities. We introduce the use of a phenotypic cluster analysis to examine the distribution of opponent categories throughout an evolutionary sequence. This analysis, adopted from widespread usage in the bioinformatics community, can be applied to master tournament data. This allows us to construct behavior-based category trees, obtaining a hierarchical classification of phenotypes that are suspected to interleave during cyclic evolution. We use the cluster data to establish the existence of switching-genes that control opponent specialization, suggesting the retention of dormant genetic adaptations, that is, genetic memory. Our overarching goal is to reiterate how computer simulations may have importance to the broader understanding of evolutionary dynamics in general. We emphasize a further shift from a component-driven to an interaction-driven perspective in understanding coevolving systems. As yet, it is unclear how the sudden development of switching-genes relates to the gradual emergence of genetic adaptability. Likely, context genes gradually provide the appropriate genetic environment wherein the switching-gene effect can be exploited

Abstract

In everyday life people have to deal with tasks such as finding a novel path to a certain goal location, finding one’s way back, finding a short cut, or making a detour. In all of these tasks people acquire route knowledge. For finding the same way back they have to remember locations of objects like buildings and additionally direction changes. In three experiments using recognition tasks as well as conscious and unconscious spatial priming paradigms memory processes underlying wayfinding behaviour were investigated. Participants learned a route through a virtual environment with objects either placed at intersections (i.e., decision points) where another route could be chosen or placed along the route (non-decision points). Analyses indicate first that objects placed at decision points are recognized faster than other objects. Second, they indicate that the direction in which a route is travelled is represented only at locations that are relevant for wayfinding (e.g., decision points). The results point out the efficient way in which memory for object location and memory for route direction interact.

Abstract

The present study describes how three now almost forgotten mid-20th-century logicians, the American Paul Jacoby and the Frenchmen Augustin Sesmat and Robert Blanché, all three ardent Catholics, tried to restore traditional predicate logic to a position of respectability by expanding the classic Square of Opposition to a hexagon of logical relations, showing the logical and cognitive advantages of such an expansion. The nature of these advantages is discussed in the context of modern research regarding the relations between logic, language, and cognition. It is desirable to call attention to these attempts, as they are, though almost totally forgotten, highly relevant against the backdrop of the clash between modern and traditional logic. It is argued that this clash was and is unnecessary, as both forms of predicate logic are legitimate, each in its own right. The attempts by Jacoby, Sesmat, and Blanché are, moreover, of interest to the history of logic in a cultural context in that, in their own idiosyncratic ways, they fit into the general pattern of the Catholic cultural revival that took place roughly between the years 1840 and 1960. The Catholic Church had put up stiff resistance to modern mathematical logic, considering it dehumanizing and a threat to Catholic doctrine. Both the wider cultural context and the specific implications for logic are described and analyzed, in conjunction with the more general philosophical and doctrinal issues involved.

Abstract

One debate in mathematical cognition centers on the single-representation model versus the two-representation model. Using an improved number Stroop paradigm (i.e., systematically manipulating physical size distance), in the present study we tested the predictions of the two models for number magnitude processing. The results supported the single-representation model and, more importantly, explained how a design problem (failure to manipulate physical size distance) and an analytical problem (failure to consider the interaction between congruity and task-irrelevant numerical distance) might have contributed to the evidence used to support the two-representation model. This study, therefore, can help settle the debate between the single-representation and two-representation models. © 2015 The Author(s)

Abstract

There is evidence for cognitive as well as neural plasticity across the adult life span, although aging is associated with certain constraints on plasticity. In the current paper, we argue that the age-related reduction in cognitive plasticity may be due to (a) deficits in general processing resources, and (b) failure to engage in task-relevant cognitive operations. Memory-training research suggests that age-related processing deficits (e.g., executive functions, speed) hinder older adults from utilizing mnemonic techniques as efficiently as the young, and that this age difference is reflected by diminished frontal activity during mnemonic use. Additional constraints on memory plasticity in old age are related to difficulties that are specific to the task, such as creating visual images, as well as in binding together the information to be remembered. These deficiencies are paralleled by reduced activity in occipito-parietal and medial–temporal regions, respectively. Future attempts to optimize intervention-related gains in old age should consider targeting both general processing and task-specific origins of age-associated reductions in cognitive plasticity.

Abstract

We studied mutual influences between native and non-native vowel production during learning, i.e., before and after short-term visual articulatory feedback training with non-native sounds. Monolingual French speakers were trained to produce two non-native vowels: the Danish /ɔ/, which is similar to the French /o/, and the Russian /ɨ/, which is dissimilar from French vowels. We examined relationships between the production of French and non-native vowels before training, and the effects of training with non-native vowels on the production of French ones. We assessed for each participant the acoustic position and compactness of the trained vowels, and of the French /o/, /ø/, /y/ and /i/ vowels, which are acoustically closest to the trained vowels. Before training, the compactness of the French vowels was positively related to the accuracy and compactness in the production of non-native vowels. After training, French speakers’ accuracy and stability in the production of the two trained vowels improved on average by 19% and 37.5%, respectively. Interestingly, the production of native vowels was also affected by this learning process, with a drift towards non-native vowels. The amount of phonetic drift appears to depend on the degree of similarity between the native and non-native sounds.

Abstract

Pinpointing genes involved in non-right-handedness has the potential to clarify developmental contributions to human brain lateralization. Major-gene models have been considered for human handedness which allow for phenocopy and reduced penetrance, i.e. an imperfect correspondence between genotype and phenotype. However, a recent genome-wide association scan did not detect any common polymorphisms with substantial genetic effects. Previous linkage studies in families have also not yielded significant findings. Genetic heterogeneity and/or polygenicity are therefore indicated, but it remains possible that relatively rare, or even unique, major-genetic effects may be detectable in certain extended families with many non-right-handed members. Here we applied whole exome sequencing to 17 members from a single, large consanguineous family from Pakistan. Multipoint linkage analysis across all autosomes did not yield clear candidate genomic regions for involvement in the trait and single-point analysis of exomic variation did not yield clear candidate mutations/genes. Any genetic contribution to handedness in this unusual family is therefore likely to have a complex etiology, as at the population level.

Abstract

It is an important feature of the human sentence production system that semantic and syntactic processes may overlap in time and do not proceed strictly serially. That is, the process of building the syntactic form of an utterance does not always wait until the complete semantic content for that utterance has been decided upon. On the contrary, speakers will often start pronouncing the first words of a sentence while still working on further details of its semantic content. An important advantage is memory economy. Semantic and syntactic fragments do not have to occupy working memory until complete semantic and syntactic structures for an utterance have been computed. Instead, each semantic and syntactic fragment is processed as soon as possible and is kept in working memory for a minimum period of time. This raises the question of how the sentence production system can maintain syntactic coherence across syntactic fragments. Presumably there are processes of "syntactic bookkeeping" which (1) store in working memory those syntactic properties of a fragmentary sentence which are needed to eliminate ungrammatical continuations, and (2) check whether a prospective continuation is indeed compatible with the sentence constructed so far. In reaction time experiments where subjects described, under time pressure, simple static pictures of an action performed by an actor, the second aspect of syntactic bookkeeping could be demonstrated. This evidence is used for modelling bookkeeping processes as part of a computational sentence generator which aims at simulating the syntactic operations people carry out during spontaneous speech.

Abstract

When you compare the behavior of two different age groups which are trying to master the same sensori-motor or cognitive skill, you are likely to discover varying learning routes: different stages, different intervals between stages, or even different orderings of stages. Such heterogeneous learning trajectories may be caused by at least six different types of factors: (1) Initial state: the kinds and levels of skills the learners have available at the onset of the learning episode. (2) Learning mechanisms: rule-based, inductive, connectionist, parameter setting, and so on. (3) Input and feedback characteristics: learning stimuli, information about success and failure. (4) Information processing mechanisms: capacity limitations, attentional biases, response preferences. (5) Energetic variables: motivation, emotional reactions. (6) Final state: the fine-structure of kinds and levels of subskills at the end of the learning episode. This applies to language acquisition as well. First and second language learners probably differ on all six factors. Nevertheless, the debate between advocates and opponents of the Fundamental Difference Hypothesis concerning L1 and L2 acquisition have looked almost exclusively at the first two factors. Those who believe that L1 learners have access to Universal Grammar whereas L2 learners rely on language processing strategies, postulate different learning mechanisms (UG parameter setting in L1, more general inductive strategies in L2 learning). Pienemann opposes this view and, based on his Processability Theory, argues that L1 and L2 learners start out from different initial states: they come to the grammar learning task with different structural hypotheses (SOV versus SVO as basic word order of German).

Abstract

A new cognitive architecture is proposed for the syntactic aspects of human sentence processing. The architecture, called Unification Space, is biologically inspired but not based on neural nets. Instead it relies on biosynthesis as a basic metaphor. We use simulated annealing as an optimization technique which searches for the best configuration of isolated syntactic segments or subtrees in the final parse tree. The gradually decaying activation of individual syntactic nodes determines the ‘global excitation level’ of the system. This parameter serves the function of ‘computational temperature’ in simulated annealing. We have built a computer implementation of the architecture which simulates well-known sentence understanding phenomena. We report successful simulations of the psycholinguistic effects of clause embedding, minimal attachment, right association and lexical ambiguity. In addition, we simulated impaired sentence understanding as observable in agrammatic patients. Since the Unification Space allows for contextual (semantic and pragmatic) influences on the syntactic tree formation process, it belongs to the class of interactive sentence processing models.

Abstract

Remarques sur les facteurs intervenant dans le processus de formulation des énoncés.

Abstract

The psychology of language as developed by Wilhelm Wundt in his fundamental work Die Sprache (1900) has a strongly mentalistic character. The dominating positions held by behaviorism in psychology and structuralism in linguistics have overruled Wundt’s language theory to the effect that it has remained relatively unknown. This situation has changed recently under the influence of transformational linguistics and cognitive psychology. The paper discusses how Wundt applied the basic psychological concepts of apperception and association to language behavior, in particular to the construction and production of sentences during unprepared speech. The final part of the paper is devoted to the work, published in 1917, of the Dutch linguistic scholar Jacques van Ginneken, who elaborated Wundt’s ideas towards an explanation of some syntactic phenomena during the language acquisition of children.

Abstract

In present-day spoken German, subordinate clauses introduced by the connector weil ‘because’ occur with two orders of subject, finite verb, and object(s). In addition to weil clauses with verb-final word order (“VF”; standard in subordinate clauses) one often hears weil clauses with SVO, the standard order of main clauses (“verb-second”, V2). The “weil-V2” phenomenon is restricted to sentences where the weil clause follows the main clause, and is virtually absent from formal (written, edited) German, occurring only in extemporaneous speech. Extant accounts of weil-V2 focus on the interpretation of weil-V2 clauses by the hearer, in particular on the type of discourse relation licensed by weil-V2 vs. weil-VF: causal/propositional or inferential/epistemic. Focusing instead on the production of weil clauses by the speaker, we examine a collection of about 1,000 sentences featuring a causal connector (weil, da or denn) after the main clause, all extracted from a corpus of spoken German dialogues and annotated with tags denoting major prosodic and syntactic boundaries, and various types of disfluencies (pauses, hesitations). Based on the observed frequency patterns and on known linguistic properties of the connectors, we propose that weil-V2 is caused by miscoordination between the mechanisms for lexical retrieval and grammatical encoding: Due to its high frequency, the lexical item weil is often selected prematurely, while the grammatical encoder is still working on the syntactic shape of the weil clause. Weil-V2 arises when pragmatic and processing factors drive the encoder to discontinue the current sentence, and to plan the clause following weil in the form of the main clause of an independent, new sentence. Thus, the speaker continues with a V2 clause, seemingly in violation of the VF constraint imposed by the preceding weil. We also explore implications of the model regarding the interpretation of sentences containing causal connectors.

Abstract

In this article, we examine methods that participants use to resolve troubles in the realization of practical courses of action. The concept of recruitment is developed to encompass the linguistic and embodied ways in which assistance may be sought – requested or solicited – or in which we come to perceive another’s need and offer or volunteer assistance. We argue that these methods are organized as a continuum, from explicit requests, to practices that elicit offers, to anticipations of need. We further identify a class of subsidiary actions that can precede recruitment and that publicly expose troubles and thereby create opportunities for others to assist. Data in American and British English.

Abstract

In their commentaries, both Heritage (2016/this issue) and Zinken and Rossi (2016/this issue) provide some context for our concept of and approach to recruitment in terms of previous research into requesting and offering. In doing so, they usefully consider what might be the boundaries of recruitmentwhat might be included and what might not be included or treated as recruitment. We respond here to their suggestions concerning these boundaries.

Abstract

Our analysis proceeds from the question that if grammar alone is insuffi- cient to identify the action of an imperative (e.g., offering, directing, warn- ing, begging, etc.), how can interlocutors come to recognize the specific action being performed by a given imperative? We argue that imperative directives that occur after the directed action could have first been rele- vantly performed explicitly to direct the actions of the recipient and tacitly treat the absence of the action as a failure for which the recipient is accountable. The tacit nature of the accountability orientation enables both parties to focus on restoring progressivity to the directed course of action rather than topicalizing a transgression. Data are from everyday interactions in British and American English.

Abstract

Variability in children's language acquisition is likely due to a number of cognitive and social variables. The current study investigated whether individual differences in statistical learning (SL), which has been implicated in language acquisition, independently predicted 6- to 8-year-old's comprehension of syntax. Sixty-eight (N = 68) English-speaking children completed a test of comprehension of four syntactic structures, a test of SL utilizing nonlinguistic visual stimuli, and several additional control measures. The results revealed that SL independently predicted comprehension of two syntactic structures that show considerable variability in this age range: passives and object relative clauses. These data suggest that individual differences in children's capacity for SL are associated with the acquisition of the syntax of natural languages.

Abstract

Languages are strong markers of social identity. Multiple features of language and speech, from accent to lexis to grammatical constructions, mark speakers as members of specific cultural groups. In the current article, we present two confederate-scripted studies that investigated the social effects of the Australian hypocoristic use (e.g., uggie, uni, derro)—a lexical category emblematic of Australian culture. Participants took turns with a confederate directing each other through locations on a map. In their directions, the confederate used either hypocoristic (e.g., uni) or standard forms (e.g., university). The confederate’s cultural group membership and member prototypicality were manipulated by ethnic background and accent: In a highly prototypical in-group condition, the confederate had an Anglo-Celtic background and Australian English (AusE) accent; in a low prototypical in-group condition, the confederate had an Asian background and AusE accent; and in the out-group condition, the confederate had an Asian background and non-AusE accent. Hypocoristic use resulted in significantly higher participant-rated perceived common ground with the confederate when the confederate was an in-group but not an out-group member, which in some instances was moderated by in-group identification. The results suggest that like accents, culturally significant lexical categories function as markers of in-group identity, which influence perceived social closeness during interaction.

Abstract

We present empirical data showing that the relative frequency with which a verb normally appears in a syntactic construction predicts young children's ability to remember and repeat sentences instantiating that construction. Children aged 2;10–5;8 years were asked to repeat grammatical and ungrammatical sentential complement sentences (e.g., ‘I think + S’). The sentences contained complement-taking verbs (CTVs) used with differing frequencies in children's natural speech. All children repeated sentences containing high frequency CTVs (e.g., think) more accurately than those containing low frequency CTVs (e.g., hear), and made more sophisticated corrections to ungrammatical sentences containing high frequency CTVs. The data suggest that, like adults, children are sensitive to lexico-constructional collocations. The implications for language acquisition are discussed.

Abstract

The distinction between finite and non-finite verb forms is well-established but not particularly well-defined. It cannot just be a matter of verb morphology, because it is also made when there is hardly any morphological difference: by far most English verb forms can be finite as well as non-finite. More importantly, many structural phenomena are clearly associated with the presence or absence of finiteness, a fact which is clearly reflected in the early stages of first and second language acquisition. In syntax, these include basic word order rules, gapping, the licensing of a grammatical subject and the licensing of expletives. In semantics, the specific interpretation of indefinite noun phrases is crucially linked to the presence of a finite element. These phenomena are surveyed, and it is argued that finiteness (a) links the descriptive content of the sentence (the 'sentence basis') to its topic component (in particular, to its topic time), and (b) it confines the illocutionary force to that topic component. In a declarative main clause, for example, the assertion is confined to a particular time, the topic time. It is shown that most of the syntactic and semantic effects connected to finiteness naturally follow from this assumption.

Abstract

During the last 25 years, second language acquisition (SLA) research hasmade considerable progress, but is still far from proving a solid basis for foreign language teaching, or from a general theory of SLA. In addition, its status within the linguistic disciplines is still very low. I argue this has not much to do with low empirical or theoretical standards in the field—in this regard, SLA research is fully competitive—but with a particular perspective on the acquisition process: SLA researches learners' utterances as deviations from a certain target, instead of genuine manifestations of underlying language capacity; it analyses them in terms of what they are not rather than what they are. For some purposes such a "target deviation perspective" makes sense, but it will not help SLA researchers to substantially and independently contribute to a deeper understanding of the structure and function of the human language faculty. Therefore, these findings will remain of limited interest to other scientists until SLA researchers consider learner varieties a normal, in fact typical, manifestation of this unique human capacity.

Abstract

This study investigates the effect of speech rate on spoken word recognition across the adult life span. Contrary to previous studies, conversational materials with a natural variation in speech rate were used rather than lab-recorded stimuli that are subsequently artificially time-compressed. It was investigated whether older adults' speech recognition is more adversely affected by increased speech rate compared to younger and middle-aged adults, and which individual listener characteristics (e.g., hearing, fluid cognitive processing ability) predict the size of the speech rate effect on recognition performance. In an eye-tracking experiment, participants indicated with a mouse-click which visually presented words they recognized in a conversational fragment. Click response times, gaze, and pupil size data were analyzed. As expected, click response times and gaze behavior were affected by speech rate, indicating that word recognition is more difficult if speech rate is faster. Contrary to earlier findings, increased speech rate affected the age groups to the same extent. Fluid cognitive processing ability predicted general recognition performance, but did not modulate the speech rate effect. These findings emphasize that earlier results of age by speech rate interactions mainly obtained with artificially speeded materials may not generalize to speech rate variation as encountered in conversational speech.

Abstract

The Acceptable Noise Level (ANL) test, in which individuals indicate what level of noise they are willing to put up with while following speech, has been used to guide hearing aid fitting decisions and has been found to relate to prospective hearing aid use. Unlike objective measures of speech perception ability, ANL outcome is not related to individual hearing loss or age, but rather reflects an individual's inherent acceptance of competing noise while listening to speech. As such, the measure may predict aspects of hearing aid success. Crucially, however, recent studies have questioned its repeatability (test-retest reliability). The first question for this study was whether the inconsistent results regarding the repeatability of the ANL test may be due to differences in speech material types used in previous studies. Second, it is unclear whether meaningfulness and semantic coherence of the speech modify ANL outcome. To investigate these questions, we compared ANLs obtained with three types of materials: the International Speech Test Signal (ISTS), which is non-meaningful and semantically non-coherent by definition, passages consisting of concatenated meaningful standard audiology sentences, and longer fragments taken from conversational speech. We included conversational speech as this type of speech material is most representative of everyday listening. Additionally, we investigated whether ANL outcomes, obtained with these three different speech materials, were associated with self-reported limitations due to hearing problems and listening effort in everyday life, as assessed by a questionnaire. ANL data were collected for 57 relatively good-hearing adult participants with an age range representative for hearing aid users. Results showed that meaningfulness, but not semantic coherence of the speech material affected ANL. Less noise was accepted for the non-meaningful ISTS signal than for the meaningful speech materials. ANL repeatability was comparable across the speech materials. Furthermore, ANL was found to be associated with the outcome of a hearing-related questionnaire. This suggests that ANL may predict activity limitations for listening to speech-in-noise in everyday situations. In conclusion, more natural speech materials can be used in a clinical setting as their repeatability is not reduced compared to more standard materials.

Abstract

In two experiments, we examined the recent claim (Stewart, Pickering, & Sanford, 2000) that verb-based implicit causality information is used during sentence–final clausal integration only. We did so by looking for mid-sentence reading delays caused by pronouns that are inconsistent with the bias of a preceding implicit causality verb (e.g., “David praised Linda because he…”). In a self-paced reading task, such pronouns immediately slowed down reading, at the two words immediately following the pronoun. In eye tracking, bias-inconsistent pronouns also immediately perturbed the reading process, as indexed by significant delays in various first pass measures at and shortly after the critical pronoun. Hence, readers can recruit verb-based implicit causality information in the service of comprehension rapidly enough to impact on the interpretation of a pronoun early in the subordinate clause. We take our results to suggest that implicit causality is used proactively, allowing readers to focus on, and perhaps even predict, who or what will be talked about next.

Abstract

Individuals speak incrementally when they interleave planning and articulation. Eyetracking, along with the measurement of speech onset latencies, can be used to gain more insight into the degree of incrementality adopted by speakers. In the current article, two eyetracking experiments are reported in which pairs of complex numerals were named (arabic format, Experiment 1) or read aloud (alphabetic format, Experiment 2) as house numbers and as clock times. We examined whether the degree of incrementality is differentially influenced by the production task (naming vs. reading) and mode (house numbers vs. clock time expressions), by comparing gaze durations and speech onset latencies. In both tasks and modes, dissociations were obtained between speech onset latencies (reflecting articulation) and gaze durations (reflecting planning), indicating incrementality. Furthermore, whereas none of the factors that determined gaze durations were reflected in the reading and naming latencies for the house numbers, the dissociation between gaze durations and response latencies for the clock times concerned mainly numeral length in both tasks. These results suggest that the degree of incrementality is influenced by the type of utterance (house number vs. clock time) rather than by task (reading vs. naming). The results highlight the importance of the utterance structure in determining the degree of incrementality.

Abstract

A steady accumulation of experimental data argues that protein synthesis in neurons is not merely restricted to the somatic compartment, but also occurs in several discrete cellular micro-domains. Local protein synthesis is critical for the establishment of synaptic plasticity in mature dendrites and in directing the growth cones of immature axons, and has been associated with cognitive impairment in mice and humans. Although in recent years a number of important mechanisms governing this process have been described, it remains technically challenging to precisely monitor local protein synthesis in individual neuronal cell parts independent from the soma. This report presents the utility of employing microfluidic chambers for the isolation and treatment of single neuronal cellular compartments. Furthermore, it is demonstrated that a protein synthesis assay, based on fluorescent non-canonical amino acid tagging (FUNCAT), can be combined with this cell culture system to label nascent proteins within a discrete structural and functional domain of the neuron. Together, these techniques could be employed for the detection of protein synthesis within developing and mature neurites, offering an effective approach to elucidate novel mechanisms controlling synaptic maintenance and plasticity.

Abstract

During speech listening, the brain parses a continuous acoustic stream of information into computational units (e.g. syllables or words) necessary for speech comprehension. Recent neuroscientific hypotheses propose that neural oscillations contribute to speech parsing, but whether they do so on the basis of acoustic cues (bottom-up acoustic parsing) or as a function of available linguistic representations (top-down linguistic parsing) is unknown. In this magnetoencephalography study, we contrasted acoustic and linguistic parsing using bistable speech sequences. While listening to the speech sequences, participants were asked to maintain one of the two possible speech percepts through volitional control. We predicted that the tracking of speech dynamics by neural oscillations would not only follow the acoustic properties but also shift in time according to the participant’s conscious speech percept. Our results show that the latency of high-frequency activity (specifically, beta and gamma bands) varied as a function of the perceptual report. In contrast, the phase of low-frequency oscillations was not strongly affected by top-down control. While changes in low-frequency neural oscillations were compatible with the encoding of pre-lexical segmentation cues, high-frequency activity specifically informed on an individual’s conscious speech percept.

Abstract

In various applications of forensic phonetics the question arises as to how far aural-perceptual speaker recognition performance is reliable. Therefore, it is necessary to examine the relationship between speaker recognition results and human perception/production abilities like musicality or speech sensitivity. In this study, performance in a speaker recognition experiment and a speech sensitivity test are correlated. The results show a moderately significant positive correlation between the two tasks. Generally, performance in the speaker recognition task was better than in the speech sensitivity test. Professionals in speech and singing yielded a more homogeneous correlation than non-experts. Training in speech as well as choir-singing seems to have a positive effect on performance in speaker recognition. It may be concluded, firstly, that in cases where the reliability of voice line-up results or the credibility of a testimony have to be considered, the speech sensitivity test could be a useful indicator. Secondly, the speech sensitivity test might be integrated into the canon of possible procedures for the accreditation of forensic phoneticians. Both tests may also be used in combination.

Abstract

Coronary Artery Disease (CAD) remains the leading cause of mortality worldwide. Mortality rates associated with CAD have shown an exceptional increase particularly in fast developing economies like the Kingdom of Saudi Arabia (KSA). Over the past twenty years, CAD has become the leading cause of death in KSA and has reached epidemic proportions. This rise is undoubtedly caused by fast urbanization that is associated with a life-style that promotes CAD. However, the question remains whether genetics play a significant role and whether genetic susceptibility is increased in KSA compared to the well-studied Western European populations. Therefore, we performed an Exome-wide association study (EWAS) in 832 patients and 1,076 controls of Saudi Arabian origin to test whether population specific, strong genetic risk factors for CAD exist, or whether the polygenic risk score for known genetic risk factors for CAD, lipids, and Type 2 Diabetes show evidence for an enriched genetic burden. Our results do not show significant associations for a single genetic locus. However, the heritability estimate for CAD for this population was high (h2 = 0.53, S.E. = 0.1, p = 4e-12) and we observed a significant association of the polygenic risk score for CAD that demonstrates that the population of KSA, at least in part, shares the genetic risk associated to CAD in Western populations.

Abstract

Background Many genes are candidates for involvement in epileptic encephalopathy (EE) because one or a few possibly pathogenic variants have been found in patients, but insufficient genetic or functional evidence exists for a definite annotation. Methods To increase the number of validated EE genes, we sequenced 26 known and 351 candidate genes for EE in 360 patients. Variants in 25 genes known to be involved in EE or related phenotypes were followed up in 41 patients. We pri- oritized the candidate genes, and followed up 31 variants in this prioritized subset of candidate genes. Results Twenty-nine genotypes in known genes for EE (19) or related diseases (10), dominant as well as recessive or X-linked, were classified as likely pathogenic variants. Among those, likely pathogenic de novo variants were found in EE genes that act dominantly, including the recently identified genes EEF1A2, KCNB1 and the X-linked gene IQSEC2 .A de novo frameshift variant in candi- date gene HNRNPU was the only de novo variant found among the followed- up candidate genes, and the patient’s phenotype was similar to a few recent publication