Publications

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

Stimulus-related changes in cerebral blood oxygenation were measured using high-resolution functional magnetic resonance imaging sequentially covering visual occipital areas in contiguous sections. During dynamic imaging, healthy subjects silently viewed pseudowords, single false fonts, or length-matched strings of the same false fonts. The paradigm consisted of a sixfold alternation of an activation and a control task. With pseudowords as activation vs single false fonts as control, responses were seen mainly in medial occipital cortex. These responses disappeared when pseudowords were alternated with false font strings as the control and reappeared when false font strings instead of pseudowords served as activation and were alternated with single false fonts. The string-length contrast alone, therefore, is sufficient to account for the activation pattern observed in medial visual cortex when word-like stimuli are contrasted with single characters.

Abstract

The aim of this paper is to discuss an inherent difficulty of PET (and fMRI) research in language production. On the one hand, language production presupposes some degree of freedom for the subject, on the other hand, interpretability of results presupposes restrictions of this freedom. This difficulty is reflected in the existing PET literature in some neglect of the general principle to design experiments in such a way that the results do not allow for alternative interpretations. It is argued that by narrowing down the scope of experiments a gain in interpretability can be achieved.

Abstract

Previous experiments and models show that the pressure to communicate can lead to the emergence of symbols in specific tasks. The experiment presented here suggests that the ability to use deictic gestures can reduce the pressure for symbols to emerge in co-operative tasks. In the 'gesture-only' condition, pairs built a structure together in 'Minecraft', and could only communicate using a small range of gestures. In the 'gesture-plus' condition, pairs could also use sound to develop a symbol system if they wished. All pairs were taught a pointing convention. None of the pairs we tested developed a symbol system, and performance was no different across the two conditions. We therefore suggest that deictic gestures, and non-referential means of organising activity sequences, are often sufficient for communication. This suggests that the emergence of linguistic symbols in early hominids may have been late and patchy with symbols only emerging in contexts where they could significantly improve task success or efficiency. Given the communicative power of pointing however, these contexts may be fewer than usually supposed. An approach for identifying these situations is outlined.

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

Bioacoustics increasingly relies on large datasets and computational methods. The need to batch-process large amounts of data and the increased focus on algorithmic processing require software tools. To optimally assist in a bioacoustician’s workflow, software tools need to be as simple and effective as possible. Five years ago, the Python package Parselmouth was released to provide easy and intuitive access to all functionality in the Praat software. Whereas Praat is principally designed for phonetics and speech processing, plenty of bioacoustics studies have used its advanced acoustic algorithms. Here, we evaluate existing usage of Parselmouth and discuss in detail several studies which used the software library. We argue that Parselmouth has the potential to be used even more in bioacoustics research, and suggest future directions to be pursued with the help of Parselmouth.

Abstract

To understand the neurocognitive mechanisms that underlie heterogeneity in cognitive ageing, recent scientific efforts have led to a growing public availability of imaging cohort data. The Advanced BRain Imaging on ageing and Memory (ABRIM) project aims to add to these existing datasets by taking an adult lifespan approach to provide a cross-sectional, normative database with a particular focus on connectivity, myelinization and iron content of the brain in concurrence with cognitive functioning, mechanisms of reserve, and sleep-wake rhythms. ABRIM freely shares MRI and behavioural data from 295 participants between 18–80 years, stratified by age decade and sex (median age 52, IQR 36–66, 53.20% females). The ABRIM MRI collection consists of both the raw and pre-processed structural and functional MRI data to facilitate data usage among both expert and non-expert users. The ABRIM behavioural collection includes measures of cognitive functioning (i.e., global cognition, processing speed, executive functions, and memory), proxy measures of cognitive reserve (e.g., educational attainment, verbal intelligence, and occupational complexity), and various self-reported questionnaires (e.g., on depressive symptoms, pain, and the use of memory strategies in daily life and during a memory task). In a sub-sample (n = 120), we recorded sleep-wake rhythms using an actigraphy device (Actiwatch 2, Philips Respironics) for a period of 7 consecutive days. Here, we provide an in-depth description of our study protocol, pre-processing pipelines, and data availability. ABRIM provides a cross-sectional database on healthy participants throughout the adult lifespan, including numerous parameters relevant to improve our understanding of cognitive ageing. Therefore, ABRIM enables researchers to model the advanced imaging parameters and cognitive topologies as a function of age, identify the normal range of values of such parameters, and to further investigate the diverse mechanisms of reserve and resilience.

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 Iterated Learning (IL) experiments, a participant’s learned output serves as the next participant’s learning input (Kirby et al., 2014). IL can be used to model cultural transmission and has indicated that weak biases can be amplified through repeated cultural transmission (Kirby et al., 2007). So, for example, structural language properties can emerge over time because languages come to reflect the cognitive constraints in the individuals that learn and produce the language. Similarly, we propose that languages may also reflect certain anatomical biases. Do sound systems adapt to the affordances of the articulation space induced by the vocal tract?
The human vocal tract has inherent nonlinearities which might derive from acoustics and aerodynamics (cf. quantal theory, see Stevens, 1989) or biomechanics (cf. Gick & Moisik, 2015). For instance, moving the tongue anteriorly along the hard palate to produce a fricative does not result in large changes in acoustics in most cases, but for a small range there is an abrupt change from a perceived palato-alveolar [ʃ] to alveolar [s] sound (Perkell, 2012). Nonlinearities such as these might bias all human speakers to converge on a very limited set of phonetic categories, and might even be a basis for combinatoriality or phonemic ‘universals’.
While IL typically uses discrete symbols, Verhoef et al. (2014) have used slide whistles to produce a continuous signal. We conducted an IL experiment with human subjects who communicated using a digital slide whistle for which the degree of nonlinearity is controlled. A single parameter (α) changes the mapping from slide whistle position (the ‘articulator’) to the acoustics. With α=0, the position of the slide whistle maps Bark-linearly to the acoustics. As α approaches 1, the mapping gets more double-sigmoidal, creating three plateaus where large ranges of positions map to similar frequencies. In more abstract terms, α represents the strength of a nonlinear (anatomical) bias in the vocal tract.
Six chains (138 participants) of dyads were tested, each chain with a different, fixed α. Participants had to communicate four meanings by producing a continuous signal using the slide-whistle in a ‘director-matcher’ game, alternating roles (cf. Garrod et al., 2007).
Results show that for high αs, subjects quickly converged on the plateaus. This quick convergence is indicative of a strong bias, repelling subjects away from unstable regions already within-subject. Furthermore, high αs lead to the emergence of signals that oscillate between two (out of three) plateaus. Because the sigmoidal spaces are spatially constrained, participants increasingly used the sequential/temporal dimension. As a result of this, the average duration of signals with high α was ~100ms longer than with low α. These oscillations could be an expression of a basis for phonemic combinatoriality.
We have shown that it is possible to manipulate the magnitude of an articulator-induced non-linear bias in a slide whistle IL framework. The results suggest that anatomical biases might indeed constrain the design space of language. In particular, the signaling systems in our study quickly converged (within-subject) on the use of stable regions. While these conclusions were drawn from experiments using slide whistles with a relatively strong bias, weaker biases could possibly be amplified over time by repeated cultural transmission, and likely lead to similar outcomes.

Abstract

Many factors have been proposed to explain why groups of people use different speech sounds in their language. These range from cultural, cognitive, environmental (e.g., Everett, et al., 2015) to anatomical (e.g., vocal tract (VT) morphology). How could such anatomical properties have led to the similarities and differences in speech sound distributions between human languages?

It is known that hard palate profile variation can induce different articulatory strategies in speakers (e.g., Brunner et al., 2009). That is, different hard palate profiles might induce a kind of bias on speech sound production, easing some types of sounds while impeding others. With a population of speakers (with a proportion of individuals) that share certain anatomical properties, even subtle VT biases might become expressed at a population-level (through e.g., bias amplification, Kirby et al., 2007). However, before we look into population-level effects, we should first look at within-individual anatomical factors. For that, we have developed a computer-simulated analogue for a human speaker: an agent. Our agent is designed to replicate speech sounds using a production and cognition module in a computationally tractable manner.

Previous agent models have often used more abstract (e.g., symbolic) signals. (e.g., Kirby et al., 2007). We have equipped our agent with a three-dimensional model of the VT (the production module, based on Birkholz, 2005) to which we made numerous adjustments. Specifically, we used a 4th-order Bezier curve that is able to capture hard palate variation on the mid-sagittal plane (XXX, 2015). Using an evolutionary algorithm, we were able to fit the model to human hard palate MRI tracings, yielding high accuracy fits and using as little as two parameters. Finally, we show that the samples map well-dispersed to the parameter-space, demonstrating that the model cannot generate unrealistic profiles. We can thus use this procedure to import palate measurements into our agent’s production module to investigate the effects on acoustics. We can also exaggerate/introduce novel biases.

Our agent is able to control the VT model using the cognition module.

Previous research has focused on detailed neurocomputation (e.g., Kröger et al., 2014) that highlights e.g., neurobiological principles or speech recognition performance. However, the brain is not the focus of our current study. Furthermore, present-day computing throughput likely does not allow for large-scale deployment of these architectures, as required by the population model we are developing. Thus, the question whether a very simple cognition module is able to replicate sounds in a computationally tractable manner, and even generalize over novel stimuli, is one worthy of attention in its own right.

Our agent’s cognition module is based on running an evolutionary algorithm on a large population of feed-forward neural networks (NNs). As such, (anatomical) bias strength can be thought of as an attractor basin area within the parameter-space the agent has to explore. The NN we used consists of a triple-layered (fully-connected), directed graph. The input layer (three neurons) receives the formants frequencies of a target-sound. The output layer (12 neurons) projects to the articulators in the production module. A hidden layer (seven neurons) enables the network to deal with nonlinear dependencies. The Euclidean distance (first three formants) between target and replication is used as fitness measure. Results show that sound replication is indeed possible, with Euclidean distance quickly approaching a close-to-zero asymptote.

Statistical analysis should reveal if the agent can also: a) Generalize: Can it replicate sounds not exposed to during learning? b) Replicate consistently: Do different, isolated agents always converge on the same sounds? c) Deal with consolidation: Can it still learn new sounds after an extended learning phase (‘infancy’) has been terminated? Finally, a comparison with more complex models will be used to demonstrate robustness.

Abstract

Linguistic communication is an intrinsically social activity that enables us to share thoughts across minds. Many complex social uses of language can be captured by domain-general representations of other minds (i.e., mentalistic representations) that externally modulate linguistic meaning through Gricean reasoning. However, here we show that representations of others’ attention are embedded within language itself. Across ten languages, we show that demonstratives—basic grammatical words (e.g.,“this”/“that”) which are evolutionarily ancient, learned early in life, and documented in all known languages—are intrinsic attention tools. Beyond their spatial meanings, demonstratives encode both joint attention and the direction in which the listenermmust turn to establish it. Crucially, the frequency of the spatial and attentional uses of demonstratives varies across languages, suggesting that both spatial and mentalistic representations are part of their conventional meaning. Using computational modeling, we show that mentalistic representations of others’ attention are internally encoded in demonstratives, with their effect further boosted by Gricean reasoning. Yet, speakers are largely unaware of this, incorrectly reporting that they primarily capture spatial representations. Our findings show that representations of other people’s cognitive states (namely, their attention) are embedded in language and suggest that the most basic building blocks of the linguistic system crucially rely on social cognition.

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

Indian Sign Language has limited resources for developing machine learning and data-driven approaches for automated language processing. Though text/audio-based language processing techniques have shown colossal research interest and tremendous improvements in the last few years, Sign Languages still need to catch up due to the need for more resources. To bridge this gap, in this work, we propose iSign: a benchmark for Indian Sign Language (ISL) Processing. We make three primary contributions to this work. First, we release one of the largest ISL-English datasets with more than video-sentence/phrase pairs. To the best of our knowledge, it is the largest sign language dataset available for ISL. Second, we propose multiple NLP-specific tasks (including SignVideo2Text, SignPose2Text, Text2Pose, Word Prediction, and Sign Semantics) and benchmark them with the baseline models for easier access to the research community. Third, we provide detailed insights into the proposed benchmarks with a few linguistic insights into the working of ISL. We streamline the evaluation of Sign Language processing, addressing the gaps in the NLP research community for Sign Languages. We release the dataset, tasks and models via the following website: https://exploration-lab.github.io/iSign/

Abstract

Unilateral anterior disc displacement (uADD) has been shown to affect the contralateral joints qualitatively. This study aims to assess the quantitative T2 values of the articular disc and retrodiscal tissue of patients with uADD at 1.5 Tesla (T). The study included 65 uADD patients and 17 volunteers. The regions of interest on T2 maps were evaluated. The affected joints demonstrated significantly higher articular disc T2 values (31.5 ± 3.8 ms) than those of the unaffected joints (28.9 ± 4.5 ms) (P < 0.001). For retrodiscal tissue, T2 values of the unaffected (37.8 ± 5.8 ms) and affected joints (41.6 ± 7.1 ms) were significantly longer than those of normal volunteers (34.4 ± 3.2 ms) (P < 0.001). Furthermore, uADD without reduction (WOR) joints (43.3 ± 6.8 ms) showed statistically higher T2 values than the unaffected joints of both uADD with reduction (WR) (33.9 ± 3.8 ms) and uADDWOR (38.9 ± 5.8 ms), and the affected joints of uADDWR (35.8 ± 4.4 ms). The mean T2 value of the unaffected joints of uADDWOR was significantly longer than that of healthy volunteers (P < 0.001). These results provided quantitative evidence for the influence of the affected joints on the contralateral joints.

Abstract

We investigated prediction skills of adult heritage speakers and the role of written and spoken language experience on predictive processing. Using visual world eye-tracking, we focused on predictive use of case-marking cues in verb-medial and verb-final sentences in Turkish with adult Turkish heritage speakers (N = 25) and Turkish monolingual speakers (N = 24). Heritage speakers predicted in verb-medial sentences (when verb-semantic and case-marking cues were available), but not in verb-final sentences (when only case-marking cues were available) while monolinguals predicted in both. Prediction skills of heritage speakers were modulated by their spoken language experience in Turkish and written language experience in both languages. Overall, these results strongly suggest that verb-semantic information is needed to scaffold the use of morphosyntactic cues for prediction in heritage speakers. The findings also support the notion that both spoken and written language experience play an important role in predictive spoken language processing.

Abstract

When learning a spoken second language (L2), words overlapping in form and meaning with one’s native language (L1) help break into the new language. When non-signing speakers learn a sign language as L2, such forms are absent because of the modality differences (L1:speech, L2:sign). In such cases, non-signing speakers might use iconic form-meaning mappings in signs or their own gestural experience as gateways into the to-be-acquired sign language. Here, we investigated how both these factors may contribute jointly to the acquisition of sign language vocabulary by hearing non-signers. Participants were presented with three types of sign in NGT (Sign Language of the Netherlands): arbitrary signs, iconic signs with high or low gesture overlap. Signs that were both iconic and highly overlapping with gestures boosted learning most at first exposure, and this effect remained the day after. Findings highlight the influence of modality-specific factors supporting the acquisition of a signed lexicon.

Abstract

The 8p23.1 duplication syndrome is a rare genetic condition with an estimated prevalence rate of 1 out of 58,000. Although the syndrome was associated with speech and language delays, a comprehensive assessment of speech and language functions has not been undertaken in this population. To address this issue, the present study reports rigorous speech and language, in addition to oral-facial and developmental, assessment of a 50-month-old Turkish-speaking boy who was diagnosed with the 8p23.1 duplication syndrome. Standardized tests of development, articulation and phonology, receptive and expressive language and a language sample analysis were administered to characterize speech and language skills in the patient. The language sample was obtained in an ecologically valid, free play and conversation context. The language sample was then analyzed and compared to a database of age-matched typically-developing children (n = 33) in terms of intelligibility, morphosyntax, semantics/vocabulary, discourse, verbal facility and percentage of errors at word and utterance levels. The results revealed mild to severe problems in articulation and phonology, receptive and expressive language skills, and morphosyntax (mean length of utterance in morphemes). Future research with larger sample sizes and employing detailed speech and language assessment is needed to delineate the speech and language profile in individuals with the 8p23.1 duplication syndrome, which will guide targeted speech and language interventions.

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

In Korean, focus is expressed in accentual phrasing. To ascertain whether words focused in this manner enjoy a processing advantage analogous to that conferred by focus as expressed in, e.g, English and Dutch, we devised sentences with target words in one of four conditions: prosodic focus, syntactic focus, prosodic + syntactic focus, and no focus as a control. 32 native speakers of Korean listened to blocks of 10 sentences, then were presented visually with words and asked whether or not they had heard them. Overall, words with focus were recognised significantly faster and more accurately than unfocused words. In addition, words with syntactic focus or syntactic + prosodic focus were recognised faster than words with prosodic focus alone. As for other languages, Korean focus confers processing advantage on the words carrying it. While prosodic focus does provide an advantage, however, syntactic focus appears to provide the greater beneficial effect for recognition memory

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

This paper presents a theory of the syntactic aspects of human sentence production. An important characteristic of unprepared speech is that overt pronunciation of a sentence can be initiated before the speaker has completely worked out the meaning content he or she is going to express in that sentence. Apparently, the speaker is able to build up a syntactically coherent utterance out of a series of syntactic fragments each rendering a new part of the meaning content. This incremental, left-to-right mode of sentence production is the central capability of the proposed Incremental Procedural Grammar (IPG). Certain other properties of spontaneous speech, as derivable from speech errors, hesitations, self-repairs, and language pathology, are accounted for as well. The psychological plausibility thus gained by the grammar appears compatible with a satisfactory level of linguistic plausibility in that sentences receive structural descriptions which are in line with current theories of grammar. More importantly, an explanation for the existence of configurational conditions on transformations and other linguistics rules is proposed. The basic design feature of IPG which gives rise to these psychologically and linguistically desirable properties, is the “Procedures + Stack” concept. Sentences are built not by a central constructing agency which overlooks the whole process but by a team of syntactic procedures (modules) which work-in parallel-on small parts of the sentence, have only a limited overview, and whose sole communication channel is a stock. IPG covers object complement constructions, interrogatives, and word order in main and subordinate clauses. It handles unbounded dependencies, cross-serial dependencies and coordination phenomena such as gapping and conjunction reduction. It is also capable of generating self-repairs and elliptical answers to questions. IPG has been implemented as an incremental Dutch sentence generator written in LISP.

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

[Seven one-page psycholinguistic sketches]

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

Somatic practices frequently use imagery, typically via verbal instructions, to scaffold sensorimotor organization and experience, a phenomenon we term “introjection”. We argue that introjection is an imagery practice in which sensorimotor and conceptual aspects are co-orchestrated, suggesting the necessity of crosstalk between somatics, phenomenology, psychology, embodied-enactive cognition, and linguistic research on embodied simulation. We presently focus on the scarcely addressed details of the process necessary to enact instructions of a literal or metaphoric nature through the body. Based on vignettes from dance, Feldenkrais, and Taichi practice, we describe introjection as a complex form of processual sense-making, in which context-interpretive, mental, attentional and physical sub-processes recursively braid. Our analysis focuses on how mental and body-related processes progressively align, inform and augment each other. This dialectic requires emphasis on the active body, which implies that uni-directional models (concept ⇒ body) are inadequate and should be replaced by interactionist alternatives (concept ⇔ body). Furthermore, we emphasize that both the source image itself and the body are specifically conceptualized for the context through constructive operations, and both evolve through their interplay. At this level introjection employs representational operations that are embedded in enactive dynamics of a fully situated person.

Abstract

Nobel's legacy, or the metamorphosis of what is idealistic Ever since the first Nobel prize in literature was awarded to Prudhomme in 1901, the decisions of the Swedish Academy have been subject to criticism. What is surprising in the changing decision policy as well as in its criticism is the fact that Alfred Nobel's original intentions are hardly ever taken into account: the Nobel prize is a philanthropic prize, it is not meant to select and honour the most eminent literary work but the work with maximal benefit to human beings. What is even more surprising is the fact that no one seems to care that the donator's Last Will is regularly broken.

Abstract

In this article, we discuss the implications of the fact that adult second language learners (outside the classroom) universally develop a well-structured, efficient and simple form of language–the Basic Variety (BV). Three questions are asked as to (1) the structural properties of the BV, (2) the status of these properties and (3) why some structural properties of ‘fully fledged’ languages are more complex. First, we characterize the BV in four respects: its lexical repertoire, the principles according to which utterances are structured, and temporality and spatiality expressed. The organizational principles proposed are small in number, and interact. We analyse this interaction, describing how the BV is put to use in various complex verbal tasks, in order to establish both what its communicative potentialities are, and also those discourse contexts where the constraints come into conflict and where the variety breaks down. This latter phenomenon provides a partial answer to the third question,concerning the relative complexity of ‘fully fledged’ languages–they have devices to deal with such cases. As for the second question, it is argued firstly that the empirically established continuity of the adult acquisition process precludes any assignment of the BV to a mode of linguistic expression (e.g., ‘protolanguage’) distinct from that of ‘fully fledged’ languages and, moreover, that the organizational constraints of the BV belong to the core attributes of the human language capacity, whereas a number of complexifications not attested in the BV are less central properties of this capacity. Finally, it is shown that the notion of feature strength, as used in recent versions of Generative Grammar, allows a straightforward characterization of the BV as a special case of an I-language, in the sense of this theory. Under this perspective, the acquisition of an Ilanguage beyond the BV can essentially be described as a change in feature strength.

Abstract

The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer.

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

Multimodal rhythmic signalling abounds across animal taxa. Studying its mechanisms and functions can highlight adaptive components in highly complex rhythmic behaviours, like dance and music. Pinnipeds, such as the harbour seal, Phoca vitulina, are excellent comparative models to assess rhythmic capacities. Harbour seals engage in rhythmic percussive behaviours which, until now, have not been described in detail. In our study, eight zoo-housed harbour seals (two pups, two juveniles and four adults) were passively monitored by audio and video during their pupping/breeding season. All juvenile and adult animals performed percussive signalling with their fore flippers in agonistic conditions, both on land and in water. Flipper slap sequences produced on the ground or on the seals' bodies were often highly regular in their interval duration, that is, were quasi-isochronous, at a 200–600 beats/min pace. Three animals also showed significant lateralization in slapping. In contrast to slapping on land, display slapping in water, performed only by adult males, showed slower tempo by one order of magnitude, and a rather motivic temporal structure. Our work highlights that percussive communication is a significant part of harbour seals' behavioural repertoire. We hypothesize that its forms of rhythm production may reflect adaptive functions such as regulating internal states and advertising individual traits.

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

Words can be distinguished by segmental differences or by suprasegmental differences or both. Studies from English suggest that suprasegmentals play little role in human spoken-word recognition; English stress, however, is nearly always unambiguously coded in segmental structure (vowel quality); this relationship is less close in Dutch. The present study directly compared the effects of segmental and suprasegmental mispronunciation on word recognition in Dutch. There was a strong effect of suprasegmental mispronunciation, suggesting that Dutch listeners do exploit suprasegmental information in word recognition. Previous findings indicating the effects of mis-stressing for Dutch differ with stress position were replicated only when segmental change was involved, suggesting that this is an effect of segmental rather than suprasegmental processing.

Abstract

We examined the extent to which cognate facilitation effects occurred in simultaneous bilingual children’s production and comprehension and how these were modulated by language dominance and language context. Bilingual Dutch-German children, ranging from Dutch-dominant to German-dominant, performed picture naming and auditory lexical decision tasks in single-language and dual-language contexts. Language context was manipulated with respect to the language of communication (with the experimenter and in instructional videos) and by means of proficiency tasks. Cognate facilitation effects emerged in both production and comprehension and interacted with both dominance and context. In a single-language context, stronger cognate facilitation effects were found for picture naming in children’s less dominant language, in line with previous studies on individual differences in lexical activation. In the dual-language context, this pattern was reversed, suggesting inhibition of the dominant language at the decision level. Similar effects were observed in lexical decision. These findings provide evidence for an integrated bilingual lexicon in simultaneous bilingual children and shed more light on the complex interplay between lexicon-internal and lexicon-external factors modulating the extent of lexical cross-linguistic influence more generally.

Abstract

In a between-language lexical priming study, we examined to what extent the two languages in a simultaneous bilingual child's lexicon interact, while taking individual differences in language exposure into account. Primary-school-aged Dutch–Greek bilinguals performed a primed picture selection task combined with eye-tracking. They matched pictures to auditorily presented Dutch target words preceded by Greek prime words. Their reaction times and eye movements were recorded. We tested for effects of between-language phonological priming, translation priming, and phonological priming through translation. Priming effects emerged in reaction times and eye movements in all three conditions, at different stages of processing, and unaffected by language exposure. These results extend previous findings for bilingual toddlers and bilingual adults. Processing similarities between these populations indicate that, across different stages of development, bilinguals have an integrated lexicon that is accessed in a language-nonselective way and is susceptible to interactions within and between different types of lexical representation.

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

Abstract

Objective: Stimulation-based language mapping approaches that are used pre- and intra-operatively employ predominantly overt language tasks requiring sufficient language pro-duction abilities. Yet, these production-based setups are often not feasible in brain tumor patients with severe expressive aphasia. This pilot study evaluated the feasibility and reliability of a newly developed language comprehension task with preoperative navigated transcranial magnetic stimulation (nTMS).
Methods: Fifteen healthy subjects and six brain tumor patients with severe expressiven aphasia unable to perform classic overt naming tasks underwent preoperative nTMS language mapping based on an auditory single-word Comprehension TAsk for Perioperative mapping (CompreTAP). Comprehension was probed by button-press responses to auditory stimuli, hence not requiring overt language responses. Positive comprehension areas were identified when stimulation elicited an incorrect or delayed button press. Error categories,case-wise cortical error rate distribution and inter-rater reliability between two experienced specialists were examined.
Results: Overall, the new setup showed to be feasible. Comprehension-disruptions induced by nTMS manifested in no responses, delayed or hesitant responses, searching behavior or selection of wrong target items across all patients and controls and could be performed even in patients with severe expressive aphasia. The analysis agreement between both specialists was substantial for classifying comprehension-positive and -negative sites. Extensive left-hemispheric individual cortical comprehension sites were identified for all patients. Apart from one case presenting with transient worsening of aphasic symptoms.