Publications

Displaying 501 - 600 of 698
  • Rubio-Fernández, P. (2017). Can we forget what we know in a false‐belief task? An investigation of the true‐belief default. Cognitive Science: a multidisciplinary journal, 41, 218-241. doi:10.1111/cogs.12331.

    Abstract

    It has been generally assumed in the Theory of Mind literature of the past 30 years that young children fail standard false-belief tasks because they attribute their own knowledge to the protagonist (what Leslie and colleagues called a “true-belief default”). Contrary to the traditional view, we have recently proposed that the children's bias is task induced. This alternative view was supported by studies showing that 3 year olds are able to pass a false-belief task that allows them to focus on the protagonist, without drawing their attention to the target object in the test phase. For a more accurate comparison of these two accounts, the present study tested the true-belief default with adults. Four experiments measuring eye movements and response inhibition revealed that (a) adults do not have an automatic tendency to respond to the false-belief question according to their own knowledge and (b) the true-belief response need not be inhibited in order to correctly predict the protagonist's actions. The positive results observed in the control conditions confirm the accuracy of the various measures used. I conclude that the results of this study undermine the true-belief default view and those models that posit mechanisms of response inhibition in false-belief reasoning. Alternatively, the present study with adults and recent studies with children suggest that participants' focus of attention in false-belief tasks may be key to their performance.
  • Rubio-Fernández, P. (2017). Why are bilinguals better than monolinguals at false-belief tasks? Psychonomic Bulletin & Review, 24, 987-998. doi:10.3758/s13423-016-1143-1.

    Abstract

    In standard Theory of Mind tasks, such as the Sally-Anne, children have to predict the behaviour of a mistaken character, which requires attributing the character a false belief. Hundreds of developmental studies in the last 30 years have shown that children under 4 fail standard false-belief tasks. However, recent studies have revealed that bilingual children and adults outperform their monolingual peers in this type of tasks. Bilinguals’ better performance in false-belief tasks has generally been interpreted as a result of their better inhibitory control; that is, bilinguals are allegedly better than monolinguals at inhibiting the erroneous response to the false-belief question. In this review, I challenge the received view and argue instead that bilinguals’ better false-belief performance results from more effective attention management. This challenge ties in with two independent lines of research: on the one hand, recent studies on the role of attentional processes in false-belief tasks with monolingual children and adults; and on the other, current research on bilinguals’ performance in different Executive Function tasks. The review closes with an exploratory discussion of further benefits of bilingual cognition to Theory of Mind development and pragmatics, which may be independent from Executive Function.
  • Rubio-Fernández, P., Geurts, B., & Cummins, C. (2017). Is an apple like a fruit? A study on comparison and categorisation statements. Review of Philosophy and Psychology, 8, 367-390. doi:10.1007/s13164-016-0305-4.

    Abstract

    Categorisation models of metaphor interpretation are based on the premiss that categorisation statements (e.g., ‘Wilma is a nurse’) and comparison statements (e.g., ‘Betty is like a nurse’) are fundamentally different types of assertion. Against this assumption, we argue that the difference is merely a quantitative one: ‘x is a y’ unilaterally entails ‘x is like a y’, and therefore the latter is merely weaker than the former. Moreover, if ‘x is like a y’ licenses the inference that x is not a y, then that inference is a scalar implicature. We defend these claims partly on theoretical grounds and partly on the basis of experimental evidence. A suite of experiments indicates both that ‘x is a y’ unilaterally entails that x is like a y, and that in several respects the non-y inference behaves exactly as one should expect from a scalar implicature. We discuss the implications of our view of categorisation and comparison statements for categorisation models of metaphor interpretation.
  • Rubio-Fernández, P. (2017). The director task: A test of Theory-of-Mind use or selective attention? Psychonomic Bulletin & Review, 24, 1121-1128. doi:10.3758/s13423-016-1190-7.

    Abstract

    Over two decades, the director task has increasingly been employed as a test of the use of Theory of Mind in communication, first in psycholinguistics and more recently in social cognition research. A new version of this task was designed to test two independent hypotheses. First, optimal performance in the director task, as established by the standard metrics of interference, is possible by using selective attention alone, and not necessarily Theory of Mind. Second, pragmatic measures of Theory-of-Mind use can reveal that people actively represent the director’s mental states, contrary to recent claims that they only use domain-general cognitive processes to perform this task. The results of this study support both hypotheses and provide a new interactive paradigm to reliably test Theory-of-Mind use in referential communication.
  • Rubio-Fernández, P., Jara-Ettinger, J., & Gibson, E. (2017). Can processing demands explain toddlers’ performance in false-belief tasks? [Response to Setoh et al. (2016, PNAS)]. Proceedings of the National Academy of Sciences of the United States of America, 114(19): E3750. doi:10.1073/pnas.1701286114.
  • Russel, A., & Trilsbeek, P. (2004). ELAN Audio Playback. Language Archive Newsletter, 1(4), 12-13.
  • Russel, A., & Wittenburg, P. (2004). ELAN Native Media Handling. Language Archive Newsletter, 1(3), 12-12.
  • Rutz, C., Bronstein, M., Raskin, A., Vernes, S. C., Zacarian, K., & Blasi, D. E. (2023). Using machine learning to decode animal communication. Science, 381(6654), 152-155. doi:10.1126/science.adg7314.

    Abstract

    The past few years have seen a surge of interest in using machine learning (ML) methods for studying the behavior of nonhuman animals (hereafter “animals”) (1). A topic that has attracted particular attention is the decoding of animal communication systems using deep learning and other approaches (2). Now is the time to tackle challenges concerning data availability, model validation, and research ethics, and to embrace opportunities for building collaborations across disciplines and initiatives.
  • Ryskin, R., & Nieuwland, M. S. (2023). Prediction during language comprehension: What is next? Trends in Cognitive Sciences, 27(11), 1032-1052. doi:10.1016/j.tics.2023.08.003.

    Abstract

    Prediction is often regarded as an integral aspect of incremental language comprehension, but little is known about the cognitive architectures and mechanisms that support it. We review studies showing that listeners and readers use all manner of contextual information to generate multifaceted predictions about upcoming input. The nature of these predictions may vary between individuals owing to differences in language experience, among other factors. We then turn to unresolved questions which may guide the search for the underlying mechanisms. (i) Is prediction essential to language processing or an optional strategy? (ii) Are predictions generated from within the language system or by domain-general processes? (iii) What is the relationship between prediction and memory? (iv) Does prediction in comprehension require simulation via the production system? We discuss promising directions for making progress in answering these questions and for developing a mechanistic understanding of prediction in language.
  • Sach, M., Seitz, R. J., & Indefrey, P. (2004). Unified inflectional processing of regular and irregular verbs: A PET study. NeuroReport, 15(3), 533-537. doi:10.1097/01.wnr.0000113529.32218.92.

    Abstract

    Psycholinguistic theories propose different models of inflectional processing of regular and irregular verbs: dual mechanism models assume separate modules with lexical frequency sensitivity for irregular verbs. In contradistinction, connectionist models propose a unified process in a single module.We conducted a PET study using a 2 x 2 design with verb regularity and frequency.We found significantly shorter voice onset times for regular verbs and high frequency verbs irrespective of regularity. The PET data showed activations in inferior frontal gyrus (BA 45), nucleus lentiformis, thalamus, and superior medial cerebellum for both regular and irregular verbs but no dissociation for verb regularity.Our results support common processing components for regular and irregular verb inflection.
  • Sajovic, J., Meglič, A., Corradi, Z., Khan, M., Maver, A., Vidmar, M. J., Hawlina, M., Cremers, F. P. M., & Fakin, A. (2023). ABCA4Variant c.5714+5G> A in trans with null alleles results in primary RPE damage. Investigative Opthalmology & Visual Science, 64(12): 33. doi:10.1167/iovs.64.12.33.

    Abstract

    Purpose: To determine the disease pathogenesis associated with the frequent ABCA4 variant c.5714+5G>A (p.[=,Glu1863Leufs*33]).

    Methods: Patient-derived photoreceptor precursor cells were generated to analyze the effect of c.5714+5G>A on splicing and perform a quantitative analysis of c.5714+5G>A products. Patients with c.5714+5G>A in trans with a null allele (i.e., c.5714+5G>A patients; n = 7) were compared with patients with two null alleles (i.e., double null patients; n = 11); with a special attention to the degree of RPE atrophy (area of definitely decreased autofluorescence and the degree of photoreceptor impairment (outer nuclear layer thickness and pattern electroretinography amplitude).

    Results: RT-PCR of mRNA from patient-derived photoreceptor precursor cells showed exon 40 and exon 39/40 deletion products, as well as the normal transcript. Quantification of products showed 52.4% normal and 47.6% mutant ABCA4 mRNA. Clinically, c.5714+5G>A patients displayed significantly better structural and functional preservation of photoreceptors (thicker outer nuclear layer, presence of tubulations, higher pattern electroretinography amplitude) than double null patients with similar degrees of RPE loss, whereas double null patients exhibited signs of extensive photoreceptor ,damage even in the areas with preserved RPE.

    Conclusions: The prototypical STGD1 sequence of events of primary RPE and secondary photoreceptor damage is congruous with c.5714+5G>A, but not the double null genotype, which implies different and genotype-dependent disease mechanisms. We hypothesize that the relative photoreceptor sparing in c.5714+5G>A patients results from the remaining function of the ABCA4 transporter originating from the normally spliced product, possibly by decreasing the direct bisretinoid toxicity on photoreceptor membranes.
  • San Roque, L., Floyd, S., & Norcliffe, E. (2017). Evidentiality and interrogativity. Lingua, 186-187, 120-143. doi:10.1016/j.lingua.2014.11.003.

    Abstract

    Understanding of evidentials is incomplete without consideration of their behaviour in interrogative contexts. We discuss key formal, semantic, and pragmatic features of cross-linguistic variation concerning the use of evidential markers in interrogative clauses. Cross-linguistic data suggest that an exclusively speaker-centric view of evidentiality is not sufficient to explain the semantics of information source marking, as in many languages it is typical for evidentials in questions to represent addressee perspective. Comparison of evidentiality and the related phenomenon of egophoricity emphasises how knowledge-based linguistic systems reflect attention to the way knowledge is distributed among participants in the speech situation
  • Sankoff, G., & Brown, P. (1976). The origins of syntax in discourse: A case study of Tok Pisin relatives. Language, 52(3), 631-666.

    Abstract

    The structure of relative clauses has attracted considerable attention in recent years, and a number of authors have carried out analyses of the syntax of relativization. In our investigation of syntactic structure and change in New Guinea Tok Pisin, we find that the basic processes involved in relativization have much broader discourse functions, and that relativization is only a special instance of the application of general ‘bracketing’ devices used in the organization of information. Syntactic structure, in this case, can be understood as a component of, and derivative from, discourse structure.
  • Sauppe, S. (2017). Symmetrical and asymmetrical voice systems and processing load: Pupillometric evidence from sentence production in Tagalog and German. Language, 93(2), 288-313. doi:10.1353/lan.2017.0015.

    Abstract

    The voice system of Tagalog has been proposed to be symmetrical in the sense that there are no morphologically unmarked voice forms. This stands in contrast to asymmetrical voice systems which exhibit unmarked and marked voices (e.g., active and passive in German). This paper investigates the psycholinguistic processing consequences of the symmetrical and asymmetrical nature of the Tagalog and German voice systems by analyzing changes in cognitive load during sentence production. Tagalog and German native speakers' pupil diameters were recorded while they produced sentences with different voice markings. Growth curve analyses of the shape of task-evoked pupillary responses revealed that processing load changes were similar for different voices in the symmetrical voice system of Tagalog. By contrast, actives and passives in the asymmetrical voice system of German exhibited different patterns of processing load changes during sentence production. This is interpreted as supporting the notion of symmetry in the Tagalog voice system. Mental effort during sentence planning changes in different ways in the two languages because the grammatical architecture of their voice systems is different. Additionally, an anti-Patient bias in sentence production was found in Tagalog: cognitive load increased at the same time and at the same rate but was maintained for a longer time when the patient argument was the subject, as compared to agent subjects. This indicates that while both voices in Tagalog afford similar planning operations, linking patients to the subject function is more effortful. This anti-Patient bias in production adds converging evidence to “subject preferences” reported in the sentence comprehension literature.
  • Sauppe, S. (2017). Word order and voice influence the timing of verb planning in German sentence production. Frontiers in Psychology, 8: 1648. doi:10.3389/fpsyg.2017.01648.

    Abstract

    Theories of incremental sentence production make different assumptions about when speakers encode information about described events and when verbs are selected, accordingly. An eye tracking experiment on German testing the predictions from linear and hierarchical incrementality about the timing of event encoding and verb planning is reported. In the experiment, participants described depictions of two-participant events with sentences that differed in voice and word order. Verb-medial active sentences and actives and passives with sentence-final verbs were compared. Linear incrementality predicts that sentences with verbs placed early differ from verb-final sentences because verbs are assumed to only be planned shortly before they are articulated. By contrast, hierarchical incrementality assumes that speakers start planning with relational encoding of the event. A weak version of hierarchical incrementality assumes that only the action is encoded at the outset of formulation and selection of lexical verbs only occurs shortly before they are articulated, leading to the prediction of different fixation patterns for verb-medial and verb-final sentences. A strong version of hierarchical incrementality predicts no differences between verb-medial and verb-final sentences because it assumes that verbs are always lexically selected early in the formulation process. Based on growth curve analyses of fixations to agent and patient characters in the described pictures, and the influence of character humanness and the lack of an influence of the visual salience of characters on speakers' choice of active or passive voice, the current results suggest that while verb planning does not necessarily occur early during formulation, speakers of German always create an event representation early
  • Scerri, T. S., Fisher, S. E., Francks, C., MacPhie, I. L., Paracchini, S., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2004). Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK [Letter to JMG]. Journal of Medical Genetics, 41(11), 853-857. doi:10.1136/jmg.2004.018341.
  • Scheibel, M., & Indefrey, P. (2023). Top-down enhanced object recognition in blocking and priming paradigms. Journal of Experimental Psychology: Human Perception and Performance, 49(3), 327-354. doi:10.1037/xhp0001094.

    Abstract

    Previous studies have demonstrated that context manipulations by semantic blocking and category priming can, under particular design conditions, give rise to semantic facilitation effects. The interpretation of semantic facilitation effects is controversial in the word production literature; perceptual accounts propose that contextually facilitated object recognition may underlie facilitation effects. The present study tested this notion. We investigated the difficulty of object recognition in a semantic blocking and a category priming task. We presented all pictures in gradually de-blurring image sequences and measured the de-blurring level that first allowed for correct object naming as an indicator of the perceptual demands of object recognition. Based on object recognition models assuming a temporal progression from coarse- to fine-grained visual processing, we reasoned that the lower the required level of detail, the more efficient the recognition processes. The results demonstrate that categorically related contexts reduce the level of visual detail required for object naming compared to unrelated contexts, with this effect being most pronounced for shape-distinctive objects and in contexts providing explicit category cues. We propose a top-down explanation based on target predictability of the observed effects. Implications of the recognition effects based on target predictability for the interpretation of context effects observed in latencies are discussed.

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  • Scherz, M. D., Schmidt, R., Brown, J. L., Glos, J., Lattenkamp, E. Z., Rakotomalala, Z., Rakotoarison, A., Rakotonindrina, R. T., Randriamalala, O., Raselimanana, A. P., Rasolonjatovo, S. M., Ratsoavina, F. M., Razafindraibe, J. H., Glaw, F., & Vences, M. (2023). Repeated divergence of amphibians and reptiles across an elevational gradient in northern Madagascar. Ecology and Evolution, 13(3): e9914. doi:10.1002/ece3.9914.

    Abstract

    How environmental factors shape patterns of biotic diversity in tropical ecosystems is an active field of research, but studies examining the possibility of ecological speciation in terrestrial tropical ecosystems are scarce. We use the isolated rainforest herpetofauna on the Montagne d'Ambre (Amber Mountain) massif in northern Madagascar as a model to explore elevational divergence at the level of populations and communities. Based on intensive sampling and DNA barcoding of amphibians and reptiles along a transect ranging from ca. 470–1470 m above sea level (a.s.l.), we assessed a main peak in species richness at an elevation of ca. 1000 m a.s.l. with 41 species. The proportion of local endemics was highest (about 1/3) at elevations >1100 m a.s.l. Two species of chameleons (Brookesia tuberculata, Calumma linotum) and two species of frogs (Mantidactylus bellyi, M. ambony) studied in depth by newly developed microsatellite markers showed genetic divergence up the slope of the mountain, some quite strong, others very weak, but in each case with genetic breaks between 1100 and 1270 m a.s.l. Genetic clusters were found in transect sections significantly differing in bioclimate and herpetological community composition. A decrease in body size was detected in several species with increasing elevation. The studied rainforest amphibians and reptiles show concordant population genetic differentiation across elevation along with morphological and niche differentiation. Whether this parapatric or microallopatric differentiation will suffice for the completion of speciation is, however, unclear, and available phylogeographic evidence rather suggests that a complex interplay between ecological and allopatric divergence processes is involved in generating the extraordinary species diversity of Madagascar's biota. Our study reveals concordant patterns of diversification among main elevational bands, but suggests that these adaptational processes are only part of the complex of processes leading to species formation, among which geographical isolation is probably also important.

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  • Schijven, D., Postema, M., Fukunaga, M., Matsumoto, J., Miura, K., De Zwarte, S. M., Van Haren, N. E. M., Cahn, W., Hulshoff Pol, H. E., Kahn, R. S., Ayesa-Arriola, R., Ortiz-García de la Foz, V., Tordesillas-Gutierrez, D., Vázquez-Bourgon, J., Crespo-Facorro, B., Alnæs, D., Dahl, A., Westlye, L. T., Agartz, I., Andreassen, O. A. and 129 moreSchijven, D., Postema, M., Fukunaga, M., Matsumoto, J., Miura, K., De Zwarte, S. M., Van Haren, N. E. M., Cahn, W., Hulshoff Pol, H. E., Kahn, R. S., Ayesa-Arriola, R., Ortiz-García de la Foz, V., Tordesillas-Gutierrez, D., Vázquez-Bourgon, J., Crespo-Facorro, B., Alnæs, D., Dahl, A., Westlye, L. T., Agartz, I., Andreassen, O. A., Jönsson, E. G., Kochunov, P., Bruggemann, J. M., Catts, S. V., Michie, P. T., Mowry, B. J., Quidé, Y., Rasser, P. E., Schall, U., Scott, R. J., Carr, V. J., Green, M. J., Henskens, F. A., Loughland, C. M., Pantelis, C., Weickert, C. S., Weickert, T. W., De Haan, L., Brosch, K., Pfarr, J.-K., Ringwald, K. G., Stein, F., Jansen, A., Kircher, T. T., Nenadić, I., Krämer, B., Gruber, O., Satterthwaite, T. D., Bustillo, J., Mathalon, D. H., Preda, A., Calhoun, V. D., Ford, J. M., Potkin, S. G., Chen, J., Tan, Y., Wang, Z., Xiang, H., Fan, F., Bernardoni, F., Ehrlich, S., Fuentes-Claramonte, P., Garcia-Leon, M. A., Guerrero-Pedraza, A., Salvador, R., Sarró, S., Pomarol-Clotet, E., Ciullo, V., Piras, F., Vecchio, D., Banaj, N., Spalletta, G., Michielse, S., Van Amelsvoort, T., Dickie, E. W., Voineskos, A. N., Sim, K., Ciufolini, S., Dazzan, P., Murray, R. M., Kim, W.-S., Chung, Y.-C., Andreou, C., Schmidt, A., Borgwardt, S., McIntosh, A. M., Whalley, H. C., Lawrie, S. M., Du Plessis, S., Luckhoff, H. K., Scheffler, F., Emsley, R., Grotegerd, D., Lencer, R., Dannlowski, U., Edmond, J. T., Rootes-Murdy, K., Stephen, J. M., Mayer, A. R., Antonucci, L. A., Fazio, L., Pergola, G., Bertolino, A., Díaz-Caneja, C. M., Janssen, J., Lois, N. G., Arango, C., Tomyshev, A. S., Lebedeva, I., Cervenka, S., Sellgren, C. M., Georgiadis, F., Kirschner, M., Kaiser, S., Hajek, T., Skoch, A., Spaniel, F., Kim, M., Kwak, Y. B., Oh, S., Kwon, J. S., James, A., Bakker, G., Knöchel, C., Stäblein, M., Oertel, V., Uhlmann, A., Howells, F. M., Stein, D. J., Temmingh, H. S., Diaz-Zuluaga, A. M., Pineda-Zapata, J. A., López-Jaramillo, C., Homan, S., Ji, E., Surbeck, W., Homan, P., Fisher, S. E., Franke, B., Glahn, D. C., Gur, R. C., Hashimoto, R., Jahanshad, N., Luders, E., Medland, S. E., Thompson, P. M., Turner, J. A., Van Erp, T. G., & Francks, C. (2023). Large-scale analysis of structural brain asymmetries in schizophrenia via the ENIGMA consortium. Proceedings of the National Academy of Sciences of the United States of America, 120(14): e2213880120. doi:10.1073/pnas.2213880120.

    Abstract

    Left–right asymmetry is an important organizing feature of the healthy brain that may be altered in schizophrenia, but most studies have used relatively small samples and heterogeneous approaches, resulting in equivocal findings. We carried out the largest case–control study of structural brain asymmetries in schizophrenia, with MRI data from 5,080 affected individuals and 6,015 controls across 46 datasets, using a single image analysis protocol. Asymmetry indexes were calculated for global and regional cortical thickness, surface area, and subcortical volume measures. Differences of asymmetry were calculated between affected individuals and controls per dataset, and effect sizes were meta-analyzed across datasets. Small average case–control differences were observed for thickness asymmetries of the rostral anterior cingulate and the middle temporal gyrus, both driven by thinner left-hemispheric cortices in schizophrenia. Analyses of these asymmetries with respect to the use of antipsychotic medication and other clinical variables did not show any significant associations. Assessment of age- and sex-specific effects revealed a stronger average leftward asymmetry of pallidum volume between older cases and controls. Case–control differences in a multivariate context were assessed in a subset of the data (N = 2,029), which revealed that 7% of the variance across all structural asymmetries was explained by case–control status. Subtle case–control differences of brain macrostructural asymmetry may reflect differences at the molecular, cytoarchitectonic, or circuit levels that have functional relevance for the disorder. Reduced left middle temporal cortical thickness is consistent with altered left-hemisphere language network organization in schizophrenia.

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  • Schiller, N. O., Fikkert, P., & Levelt, C. C. (2004). Stress priming in picture naming: An SOA study. Brain and Language, 90(1-3), 231-240. doi:10.1016/S0093-934X(03)00436-X.

    Abstract

    This study investigates whether or not the representation of lexical stress information can be primed during speech production. In four experiments, we attempted to prime the stress position of bisyllabic target nouns (picture names) having initial and final stress with auditory prime words having either the same or different stress as the target (e.g., WORtel–MOtor vs. koSTUUM–MOtor; capital letters indicate stressed syllables in prime–target pairs). Furthermore, half of the prime words were semantically related, the other half unrelated. Overall, picture names were not produced faster when the prime word had the same stress as the target than when the prime had different stress, i.e., there was no stress-priming effect in any experiment. This result would not be expected if stress were stored in the lexicon. However, targets with initial stress were responded to faster than final-stress targets. The reason for this effect was neither the quality of the pictures nor frequency of occurrence or voice-key characteristics. We hypothesize here that this stress effect is a genuine encoding effect, i.e., words with stress on the second syllable take longer to be encoded because their stress pattern is irregular with respect to the lexical distribution of bisyllabic stress patterns, even though it can be regular with respect to metrical stress rules in Dutch. The results of the experiments are discussed in the framework of models of phonological encoding.
  • Schiller, N. O., & De Ruiter, J. P. (2004). Some notes on priming, alignment, and self-monitoring [Commentary]. Behavioral and Brain Sciences, 27(2), 208-209. doi:10.1017/S0140525X0441005X.

    Abstract

    Any complete theory of speaking must take the dialogical function of language use into account. Pickering & Garrod (P&G) make some progress on this point. However, we question whether their interactive alignment model is the optimal approach. In this commentary, we specifically criticize (1) their notion of alignment being implemented through priming, and (2) their claim that self-monitoring can occur at all levels of linguistic representation.
  • Schiller, N. O. (2004). The onset effect in word naming. Journal of Memory and Language, 50(4), 477-490. doi:10.1016/j.jml.2004.02.004.

    Abstract

    This study investigates whether or not masked form priming effects in the naming task depend on the number of shared segments between prime and target. Dutch participants named bisyllabic words, which were preceded by visual masked primes. When primes shared the initial segment(s) with the target, naming latencies were shorter than in a control condition (string of percent signs). Onset complexity (singleton vs. complex word onset) did not modulate this priming effect in Dutch. Furthermore, significant priming due to shared final segments was only found when the prime did not contain a mismatching onset, suggesting an interfering role of initial non-target segments. It is concluded that (a) degree of overlap (segmental match vs. mismatch), and (b) position of overlap (initial vs. final) influence the magnitude of the form priming effect in the naming task. A modification of the segmental overlap hypothesis (Schiller, 1998) is proposed to account for the data.
  • Schoffelen, J.-M., Hulten, A., Lam, N. H. L., Marquand, A. F., Udden, J., & Hagoort, P. (2017). Frequency-specific directed interactions in the human brain network for language. Proceedings of the National Academy of Sciences of the United States of America, 114(30), 8083-8088. doi:10.1073/pnas.1703155114.

    Abstract

    The brain’s remarkable capacity for language requires bidirectional interactions between functionally specialized brain regions. We used magnetoencephalography to investigate interregional interactions in the brain network for language while 102 participants were reading sentences. Using Granger causality analysis, we identified inferior frontal cortex and anterior temporal regions to receive widespread input and middle temporal regions to send widespread output. This fits well with the notion that these regions play a central role in language processing. Characterization of the functional topology of this network, using data-driven matrix factorization, which allowed for partitioning into a set of subnetworks, revealed directed connections at distinct frequencies of interaction. Connections originating from temporal regions peaked at alpha frequency, whereas connections originating from frontal and parietal regions peaked at beta frequency. These findings indicate that the information flow between language-relevant brain areas, which is required for linguistic processing, may depend on the contributions of distinct brain rhythms

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  • Schuerman, W. L., Meyer, A. S., & McQueen, J. M. (2017). Mapping the speech code: Cortical responses linking the perception and production of vowels. Frontiers in Human Neuroscience, 11: 161. doi:10.3389/fnhum.2017.00161.

    Abstract

    The acoustic realization of speech is constrained by the physical mechanisms by which it is produced. Yet for speech perception, the degree to which listeners utilize experience derived from speech production has long been debated. In the present study, we examined how sensorimotor adaptation during production may affect perception, and how this relationship may be reflected in early vs. late electrophysiological responses. Participants first performed a baseline speech production task, followed by a vowel categorization task during which EEG responses were recorded. In a subsequent speech production task, half the participants received shifted auditory feedback, leading most to alter their articulations. This was followed by a second, post-training vowel categorization task. We compared changes in vowel production to both behavioral and electrophysiological changes in vowel perception. No differences in phonetic categorization were observed between groups receiving altered or unaltered feedback. However, exploratory analyses revealed correlations between vocal motor behavior and phonetic categorization. EEG analyses revealed correlations between vocal motor behavior and cortical responses in both early and late time windows. These results suggest that participants' recent production behavior influenced subsequent vowel perception. We suggest that the change in perception can be best characterized as a mapping of acoustics onto articulation
  • Schuerman, W. L., Nagarajan, S., McQueen, J. M., & Houde, J. (2017). Sensorimotor adaptation affects perceptual compensation for coarticulation. The Journal of the Acoustical Society of America, 141(4), 2693-2704. doi:10.1121/1.4979791.

    Abstract

    A given speech sound will be realized differently depending on the context in which it is produced. Listeners have been found to compensate perceptually for these coarticulatory effects, yet it is unclear to what extent this effect depends on actual production experience. In this study, whether changes in motor-to-sound mappings induced by adaptation to altered auditory feedback can affect perceptual compensation for coarticulation is investigated. Specifically, whether altering how the vowel [i] is produced can affect the categorization of a stimulus continuum between an alveolar and a palatal fricative whose interpretation is dependent on vocalic context is tested. It was found that participants could be sorted into three groups based on whether they tended to oppose the direction of the shifted auditory feedback, to follow it, or a mixture of the two, and that these articulatory responses, not the shifted feedback the participants heard, correlated with changes in perception. These results indicate that sensorimotor adaptation to altered feedback can affect the perception of unaltered yet coarticulatorily-dependent speech sounds, suggesting a modulatory role of sensorimotor experience on speech perception
  • Schumacher, M., & Skiba, R. (1992). Prädikative und modale Ausdrucksmittel in den Lernervarietäten einer polnischen Migrantin: Eine Longitudinalstudie. Teil I. Linguistische Berichte, 141, 371-400.
  • Schumacher, M., & Skiba, R. (1992). Prädikative und modale Ausdrucksmittel in den Lernervarietäten einer polnischen Migrantin: Eine Longitudinalstudie. Teil II. Linguistische Berichte, 142, 451-475.
  • Schwichtenberg, B., & Schiller, N. O. (2004). Semantic gender assignment regularities in German. Brain and Language, 90(1-3), 326-337. doi:10.1016/S0093-934X(03)00445-0.

    Abstract

    Gender assignment relates to a native speaker's knowledge of the structure of the gender system of his/her language, allowing the speaker to select the appropriate gender for each noun. Whereas categorical assignment rules and exceptional gender assignment are well investigated, assignment regularities, i.e., tendencies in the gender distribution identified within the vocabulary of a language, are still controversial. The present study is an empirical contribution trying to shed light on the gender assignment system native German speakers have at their disposal. Participants presented with a category (e.g., predator) and a pair of gender-marked pseudowords (e.g., der Trelle vs. die Stisse) preferentially selected the pseudo-word preceded by the gender-marked determiner ‘‘associated’’ with the category (e.g., masculine). This finding suggests that semantic regularities might be part of the gender assignment system of native speakers.
  • Seijdel, N., Marshall, T. R., & Drijvers, L. (2023). Rapid invisible frequency tagging (RIFT): A promising technique to study neural and cognitive processing using naturalistic paradigms. Cerebral Cortex, 33(5), 1626-1629. doi:10.1093/cercor/bhac160.

    Abstract

    Frequency tagging has been successfully used to investigate selective stimulus processing in electroencephalography (EEG) or magnetoencephalography (MEG) studies. Recently, new projectors have been developed that allow for frequency tagging at higher frequencies (>60 Hz). This technique, rapid invisible frequency tagging (RIFT), provides two crucial advantages over low-frequency tagging as (i) it leaves low-frequency oscillations unperturbed, and thus open for investigation, and ii) it can render the tagging invisible, resulting in more naturalistic paradigms and a lack of participant awareness. The development of this technique has far-reaching implications as oscillations involved in cognitive processes can be investigated, and potentially manipulated, in a more naturalistic manner.
  • Sekine, K., & Kita, S. (2017). The listener automatically uses spatial story representations from the speaker's cohesive gestures when processing subsequent sentences without gestures. Acta Psychologica, 179, 89-95. doi:10.1016/j.actpsy.2017.07.009.

    Abstract

    This study examined spatial story representations created by speaker's cohesive gestures. Participants were presented with three-sentence discourse with two protagonists. In the first and second sentences, gestures consistently located the two protagonists in the gesture space: one to the right and the other to the left. The third sentence (without gestures) referred to one of the protagonists, and the participants responded with one of the two keys to indicate the relevant protagonist. The response keys were either spatially congruent or incongruent with the gesturally established locations for the two participants. Though the cohesive gestures did not provide any clue for the correct response, they influenced performance: the reaction time in the congruent condition was faster than that in the incongruent condition. Thus, cohesive gestures automatically establish spatial story representations and the spatial story representations remain activated in a subsequent sentence without any gesture.
  • Senft, G. (1992). Bakavilisi Biga - or: What happens to English words in the Kilivila Language? Language and Linguistics in Melanesia, 23, 13-49.
  • Senft, G. (1988). A grammar of Manam by Frantisek Lichtenberk [Book review]. Language and linguistics in Melanesia, 18, 169-173.
  • Senft, G. (2017). Absolute frames of spatial reference in Austronesian languages. Russian Journal of Linguistics, 21, 686-705. doi:10.22363/2312-9182-2017-21-4-686-705.

    Abstract

    This paper provides a brief survey on various absolute frames of spatial reference that can be observed in a number of Austronesian languages – with an emphasis on languages of the Oceanic subgroup. It is based on research of conceptions of space and systems of spatial reference that was initiated by the “space project” of the Cognitive Anthropology Research Group (now the Department of Language and Cognition) at the Max Planck Institute for Psycholinguistics and by my anthology “Referring to Space” (Senft 1997a; see Keller 2002: 250). The examples illustrating these different absolute frames of spatial reference reveal once more that earlier generalizations within the domain of “SPACE” were strongly biased by research on Indo-European languages; they also reveal how complex some of these absolute frames of spatial reference found in these languages are. The paper ends with a summary of Wegener’s (2002) preliminary typology of these absolute frames of spatial reference.
  • Senft, G. (2017). Acquiring Kilivila Pragmatics - the Role of the Children's (Play-)Groups in the first 7 Years of their Lives on the Trobriand Islands in Papua New Guinea. Studies in Pragmatics, 19, 40-53.

    Abstract

    Trobriand children are breastfed until they can walk; then they are abruptly weaned and the parents dramatically reduce the pervasive loving care that their children experienced before. The children have to find a place within the children’s groups in their villages. They learn to behave according to their community’s rules and regulations which find their expression in forms of verbal and non-verbal behavior. They acquire their culture specific pragmatics under the control of older members of their groups. The children's “small republic” is the primary institution of verbal and cultural socialization. Attempts of parental education are confined to a minimum.
  • Senft, G. (1985). Emic or etic or just another catch 22? A repartee to Hartmut Haberland. Journal of Pragmatics, 9, 845.
  • Senft, G. (1988). [Review of the book Functional syntax: Anaphora, discourse and empathy by Susumu Kuno]. Journal of Pragmatics, 12, 396-399. doi:10.1016/0378-2166(88)90040-9.
  • Senft, G. (1992). [Review of the book The Yimas language of New Guinea by William A. Foley]. Linguistics, 30, 634-639.
  • Senft, G. (2004). [Review of the book Serial verbs in Oceanic: A descriptive typology by Terry Crowley]. Linguistics, 42(4), 855-859. doi:10.1515/ling.2004.028, 08/06/2004.
  • Senft, G. (2004). [Review of the book The Oceanic Languages by John Lynch, Malcolm Ross and Terry Crowley]. Linguistics, 42(2), 515-520. doi:10.1515/ling.2004.016.
  • Senft, G. (1985). How to tell - and understand - a 'dirty' joke in Kilivila. Journal of Pragmatics, 9, 815-834.
  • Senft, G. (1985). Kilivila: Die Sprache der Trobriander. Studium Linguistik, 17/18, 127-138.
  • Senft, G. (1985). Klassifikationspartikel im Kilivila: Glossen zu ihrer morphologischen Rolle, ihrem Inventar und ihrer Funktion in Satz und Diskurs. Linguistische Berichte, 99, 373-393.
  • Senft, G. (1992). Everything we always thought we knew about space - but did not bother to question. Working Papers of the Cognitive Anthropology Research group at the MPI for Psycholinguistics, 10.
  • Senft, G. (1985). Weyeis Wettermagie: Eine ethnolinguistische Untersuchung von fünf magischen Formeln eines Wettermagiers auf den Trobriand Inseln. Zeitschrift für Ethnologie, 110(2), 67-90.
  • Senft, G. (1992). What happened to "the fearless tailor" in Kilivila: A European fairy tale - from the South Seas. Anthropos, 87, 407-421.
  • Senft, G. (1985). Trauer auf Trobriand: Eine ethnologisch/-linguistische Fallstudie. Anthropos, 80, 471-492.
  • Senghas, A., Kita, S., & Ozyurek, A. (2004). Children creating core properties of language: Evidence from an emerging sign language in Nicaragua. Science, 305(5691), 1779-1782. doi:10.1126/science.1100199.

    Abstract

    A new sign language has been created by deaf Nicaraguans over the past 25 years, providing an opportunity to observe the inception of universal hallmarks of language. We found that in their initial creation of the language, children analyzed complex events into basic elements and sequenced these elements into hierarchically structured expressions according to principles not observed in gestures accompanying speech in the surrounding language. Successive cohorts of learners extended this procedure, transforming Nicaraguan signing from its early gestural form into a linguistic system. We propose that this early segmentation and recombination reflect mechanisms with which children learn, and thereby perpetuate, language. Thus, children naturally possess learning abilities capable of giving language its fundamental structure.
  • Seuren, P. A. M. (2004). The importance of being modular. Journal of Linguistics, 40(3), 593-635. doi:10.1017/S0022226704002786.
  • Seuren, P. A. M. (1976). Clitic pronoun clusters. Italian Linguistics, 2, 7-35.
  • Seuren, P. A. M. (1973). [Review of the book A comprehensive etymological dictionary of the English language by Ernst Klein]. Neophilologus, 57(4), 423-426. doi:10.1007/BF01515518.
  • Seuren, P. A. M. (1973). [Review of the book Philosophy of language by Robert J. Clack and Bertrand Russell]. Foundations of Language, 9(3), 440-441.
  • Seuren, P. A. M. (1988). [Review of the book Pidgin and Creole linguistics by P. Mühlhäusler]. Studies in Language, 12(2), 504-513.
  • Seuren, P. A. M. (1973). [Review of the book Semantics. An interdisciplinary reader in philosophy, linguistics and psychology ed. by Danny D. Steinberg and Leon A. Jakobovits]. Neophilologus, 57(2), 198-213. doi:10.1007/BF01514332.
  • Seuren, P. A. M. (1983). [Review of the book The inheritance of presupposition by J. Dinsmore]. Journal of Semantics, 2(3/4), 356-358. doi:10.1093/semant/2.3-4.356.
  • Seuren, P. A. M. (1983). [Review of the book Thirty million theories of grammar by J. McCawley]. Journal of Semantics, 2(3/4), 325-341. doi:10.1093/semant/2.3-4.325.
  • Seuren, P. A. M. (1988). [Review of the Collins Cobuild English Language Dictionary (Collins Birmingham University International Language Database)]. Journal of Semantics, 6, 169-174. doi:10.1093/jos/6.1.169.
  • Seuren, P. A. M. (2004). [Review of the book A short history of Structural linguistics by Peter Matthews]. Linguistics, 42(1), 235-236. doi:10.1515/ling.2004.005.
  • Seuren, P. A. M. (1983). In memoriam Jan Voorhoeve. Bijdragen tot de Taal-, Land- en Volkenkunde, 139(4), 403-406.
  • Seuren, P. A. M. (1963). Naar aanleiding van Dr. F. Balk-Smit Duyzentkunst "De Grammatische Functie". Levende Talen, 219, 179-186.
  • Seuren, P. A. M. (1983). Overwegingen bij de spelling van het Sranan en een spellingsvoorstel. OSO, 2(1), 67-81.
  • Seuren, P. A. M. (1988). Presupposition and negation. Journal of Semantics, 6(3/4), 175-226. doi:10.1093/jos/6.1.175.

    Abstract

    This paper is an attempt to show that given the available observations on the behaviour of negation and presuppositions there is no simpler explanation than to assume that natural language has two distinct negation operators, the minimal negation which preserves presuppositions and the radical negation which does not. The three-valued logic emerging from this distinction, and especially its model-theory, are discussed in detail. It is, however, stressed that the logic itself is only epiphenomenal on the structures and processes involved in the interpretation of sentences. Horn (1985) brings new observations to bear, related with metalinguistic uses of negation, and proposes a “pragmatic” ambiguity in negation to the effect that in descriptive (or “straight”) use negation is the classical bivalent operator, whereas in metalinguistic use it is non-truthfunctional but only pragmatic. Van der Sandt (to appear) accepts Horn's observations but proposes a different solution: he proposes an ambiguity in the argument clause of the negation operator (which, for him, too, is classical and bivalent), according to whether the negation takes only the strictly asserted proposition or covers also the presuppositions, the (scalar) implicatures and other implications (in particular of style and register) of the sentence expressing that proposition. These theories are discussed at some length. The three-valued analysis is defended on the basis of partly new observations, which do not seem to fit either Horn's or Van der Sandt's solution. It is then placed in the context of incremental discourse semantics, where both negations are seen to do the job of keeping increments out of the discourse domain, though each does so in its own specific way. The metalinguistic character of the radical negation is accounted for in terms of the incremental apparatus. The metalinguistic use of negation in denials of implicatures or implications of style and register is regarded as a particular form of minimal negation, where the negation denies not the proposition itself but the appropriateness of the use of an expression in it. This appropriateness negation is truth-functional and not pragmatic, but it applies to a particular, independently motivated, analysis of the argument clause. The ambiguity of negation in natural language is different from the ordinary type of ambiguity found in the lexicon. Normally, lexical ambiguities are idiosyncratic, highly contingent, and unpredictable from language to language. In the case of negation, however, the two meanings are closely related, both truth-conditionally and incrementally. Moreover, the mechanism of discourse incrementation automatically selects the right meaning. These properties are taken to provide a sufficient basis for discarding the, otherwise valid, objection that negation is unlikely to be ambiguous because no known language makes a lexical distinction between the two readings.
  • Seuren, P. A. M. (1973). Zero-output rules. Foundations of Language, 10(2), 317-328.
  • Severijnen, G. G. A., Di Dona, G., Bosker, H. R., & McQueen, J. M. (2023). Tracking talker-specific cues to lexical stress: Evidence from perceptual learning. Journal of Experimental Psychology: Human Perception and Performance, 49(4), 549-565. doi:10.1037/xhp0001105.

    Abstract

    When recognizing spoken words, listeners are confronted by variability in the speech signal caused by talker differences. Previous research has focused on segmental talker variability; less is known about how suprasegmental variability is handled. Here we investigated the use of perceptual learning to deal with between-talker differences in lexical stress. Two groups of participants heard Dutch minimal stress pairs (e.g., VOORnaam vs. voorNAAM, “first name” vs. “respectable”) spoken by two male talkers. Group 1 heard Talker 1 use only F0 to signal stress (intensity and duration values were ambiguous), while Talker 2 used only intensity (F0 and duration were ambiguous). Group 2 heard the reverse talker-cue mappings. After training, participants were tested on words from both talkers containing conflicting stress cues (“mixed items”; e.g., one spoken by Talker 1 with F0 signaling initial stress and intensity signaling final stress). We found that listeners used previously learned information about which talker used which cue to interpret the mixed items. For example, the mixed item described above tended to be interpreted as having initial stress by Group 1 but as having final stress by Group 2. This demonstrates that listeners learn how individual talkers signal stress and use that knowledge in spoken-word recognition.
  • Seyfried, F., & Udden, J. (2023). Phonotactics and syntax: Investigating functional specialisation during structured sequence processing. Language, Cognition and Neuroscience, 38(3), 346-358. doi:10.1080/23273798.2022.2116462.

    Abstract

    Frontal lobe organisation displays a functional gradient, with overarching processing goals located in parts anterior to more subordinate goals, processed more posteriorly. Functional specialisation for syntax and phonology within language relevant areas has been supported by meta-analyses and reviews, but never directly tested experimentally. We tested for organised functional specialisation by manipulating syntactic case and phonotactics, creating violations at the end of otherwise matched and predictable sentences. Both violations led to increased activation in expected language regions. We observe the clearest signs of a functional gradient for language processing in the medial frontal cortex, where syntactic violations activated a more anterior portion compared to the phonotactic violations. A large overlap of syntactic and phonotactic processing in the left inferior frontal gyrus (LIFG) supports the view that general structured sequence processes are located in this area. These findings are relevant for understanding how sentence processing is implemented in hierarchically organised processing steps in the frontal lobe.

    Additional information

    supplementary methods
  • Sha, Z., Schijven, D., Fisher, S. E., & Francks, C. (2023). Genetic architecture of the white matter connectome of the human brain. Science Advances, 9(7): eadd2870. doi:10.1126/sciadv.add2870.

    Abstract

    White matter tracts form the structural basis of large-scale brain networks. We applied brain-wide tractography to diffusion images from 30,810 adults (U.K. Biobank) and found significant heritability for 90 node-level and 851 edge-level network connectivity measures. Multivariate genome-wide association analyses identified 325 genetic loci, of which 80% had not been previously associated with brain metrics. Enrichment analyses implicated neurodevelopmental processes including neurogenesis, neural differentiation, neural migration, neural projection guidance, and axon development, as well as prenatal brain expression especially in stem cells, astrocytes, microglia, and neurons. The multivariate association profiles implicated 31 loci in connectivity between core regions of the left-hemisphere language network. Polygenic scores for psychiatric, neurological, and behavioral traits also showed significant multivariate associations with structural connectivity, each implicating distinct sets of brain regions with trait-relevant functional profiles. This large-scale mapping study revealed common genetic contributions to variation in the structural connectome of the human brain.
  • Shatzman, K. B., & Schiller, N. O. (2004). The word frequency effect in picture naming: Contrasting two hypotheses using homonym pictures. Brain and Language, 90(1-3), 160-169. doi:10.1016/S0093-934X(03)00429-2.

    Abstract

    Models of speech production disagree on whether or not homonyms have a shared word-form representation. To investigate this issue, a picture-naming experiment was carried out using Dutch homonyms of which both meanings could be presented as a picture. Naming latencies for the low-frequency meanings of homonyms were slower than for those of the high-frequency meanings. However, no frequency effect was found for control words, which matched the frequency of the homonyms meanings. Subsequent control experiments indicated that the difference in naming latencies for the homonyms could be attributed to processes earlier than wordform retrieval. Specifically, it appears that low name agreement slowed down the naming of the low-frequency homonym pictures.
  • Shitova, N., Roelofs, A., Schriefers, H., Bastiaansen, M., & Schoffelen, J.-M. (2017). Control adjustments in speaking: Electrophysiology of the Gratton effect in picture naming. Cortex, 92, 289-303. doi:10.1016/j.cortex.2017.04.017.

    Abstract

    Accumulating evidence suggests that spoken word production requires different amounts of top-down control depending on the prevailing circumstances. For example, during Stroop-like tasks, the interference in response time (RT) is typically larger following congruent trials than following incongruent trials. This effect is called the Gratton effect, and has been taken to reflect top-down control adjustments based on the previous trial type. Such control adjustments have been studied extensively in Stroop and Eriksen flanker tasks (mostly using manual responses), but not in the picture-word interference (PWI) task, which is a workhorse of language production research. In one of the few studies of the Gratton effect in PWI, Van Maanen and Van Rijn (2010) examined the effect in picture naming RTs during dual-task performance. Based on PWI effect differences between dual-task conditions, they argued that the functional locus of the PWI effect differs between post-congruent trials (i.e., locus in perceptual and conceptual encoding) and post-incongruent trials (i.e., locus in word planning). However, the dual-task procedure may have contaminated the results. We therefore performed an EEG study on the Gratton effect in a regular PWI task. We observed a PWI effect in the RTs, in the N400 component of the event-related brain potentials, and in the midfrontal theta power, regardless of the previous trial type. Moreover, the RTs, N400, and theta power reflected the Gratton effect. These results provide evidence that the PWI effect arises at the word planning stage following both congruent and incongruent trials, while the amount of top-down control changes depending on the previous trial type.
  • Shitova, N., Roelofs, A., Schriefers, H., Bastiaansen, M. C. M., & Schoffelen, J.-M. (2017). Control adjustments in speaking: Electrophysiology of the Gratton effect in picture naming. Cortex, 92, 289-303. doi:10.1016/j.cortex.2017.04.017.

    Abstract

    Accumulating evidence suggests that spoken word production requires different amounts of top-down control depending on the prevailing circumstances. For example, during Stroop-like tasks, the interference in response time (RT) is typically larger following congruent trials than following incongruent trials. This effect is called the Gratton effect, and has been taken to reflect top-down control adjustments based on the previous trial type. Such control adjustments have been studied extensively in Stroop and Eriksen flanker tasks (mostly using manual responses), but not in the picture–word interference (PWI) task, which is a workhorse of language production research. In one of the few studies of the Gratton effect in PWI, Van Maanen and Van Rijn (2010) examined the effect in picture naming RTs during dual-task performance. Based on PWI effect differences between dual-task conditions, they argued that the functional locus of the PWI effect differs between post-congruent trials (i.e., locus in perceptual and conceptual encoding) and post-incongruent trials (i.e., locus in word planning). However, the dual-task procedure may have contaminated the results. We therefore performed an electroencephalography (EEG) study on the Gratton effect in a regular PWI task. We observed a PWI effect in the RTs, in the N400 component of the event-related brain potentials, and in the midfrontal theta power, regardless of the previous trial type. Moreover, the RTs, N400, and theta power reflected the Gratton effect. These results provide evidence that the PWI effect arises at the word planning stage following both congruent and incongruent trials, while the amount of top-down control changes depending on the previous trial type.
  • Shitova, N., Roelofs, A., Coughler, C., & Schriefers, H. (2017). P3 event-related brain potential reflects allocation and use of central processing capacity in language production. Neuropsychologia, 106, 138-145. doi:10.1016/j.neuropsychologia.2017.09.024.

    Abstract

    Allocation and use of central processing capacity have been associated with the P3 event-related brain potential amplitude in a large variety of non-linguistic tasks. However, little is known about the P3 in spoken language production. Moreover, the few studies that are available report opposing P3 effects when task complexity is manipulated. We investigated allocation and use of central processing capacity in a spoken phrase production task: Participants switched every second trial between describing pictures using noun phrases with one adjective (size only; simple condition, e.g., “the big desk”) or two adjectives (size and color; complex condition, e.g., “the big red desk”). Capacity allocation was manipulated by complexity, and capacity use by switching. Response time (RT) was longer for complex than for simple trials. Moreover, complexity and switching interacted: RTs were longer on switch than on repeat trials for simple phrases but shorter on switch than on repeat trials for complex phrases. P3 amplitude increased with complexity. Moreover, complexity and switching interacted: The complexity effect was larger on the switch trials than on the repeat trials. These results provide evidence that the allocation and use of central processing capacity in language production are differentially reflected in the P3 amplitude.
  • Silva, S., Inácio, F., Folia, V., & Petersson, K. M. (2017). Eye movements in implicit artificial grammar learning. Journal of Experimental Psychology: Learning, Memory, and Cognition, 43(9), 1387-1402. doi:10.1037/xlm0000350.

    Abstract

    Artificial grammar learning (AGL) has been probed with forced-choice behavioral tests (active tests). Recent attempts to probe the outcomes of learning (implicitly acquired knowledge) with eye-movement responses (passive tests) have shown null results. However, these latter studies have not tested for sensitivity effects, for example, increased eye movements on a printed violation. In this study, we tested for sensitivity effects in AGL tests with (Experiment 1) and without (Experiment 2) concurrent active tests (preference- and grammaticality classification) in an eye-tracking experiment. Eye movements discriminated between sequence types in passive tests and more so in active tests. The eye-movement profile did not differ between preference and grammaticality classification, and it resembled sensitivity effects commonly observed in natural syntax processing. Our findings show that the outcomes of implicit structured sequence learning can be characterized in eye tracking. More specifically, whole trial measures (dwell time, number of fixations) showed robust AGL effects, whereas first-pass measures (first-fixation duration) did not. Furthermore, our findings strengthen the link between artificial and natural syntax processing, and they shed light on the factors that determine performance differences in preference and grammaticality classification tests
  • Silva, S., Petersson, K. M., & Castro, S. L. (2017). The effects of ordinal load on incidental temporal learning. Quarterly Journal of Experimental Psychology, 70(4), 664-674. doi:10.1080/17470218.2016.1146909.

    Abstract

    How can we grasp the temporal structure of events? A few studies have indicated that representations of temporal structure are acquired when there is an intention to learn, but not when learning is incidental. Response-to-stimulus intervals, uncorrelated temporal structures, unpredictable ordinal information, and lack of metrical organization have been pointed out as key obstacles to incidental temporal learning, but the literature includes piecemeal demonstrations of learning under all these circumstances. We suggest that the unacknowledged effects of ordinal load may help reconcile these conflicting findings, ordinal load referring to the cost of identifying the sequence of events (e.g., tones, locations) where a temporal pattern is embedded. In a first experiment, we manipulated ordinal load into simple and complex levels. Participants learned ordinal-simple sequences, despite their uncorrelated temporal structure and lack of metrical organization. They did not learn ordinal-complex sequences, even though there were no response-to-stimulus intervals nor unpredictable ordinal information. In a second experiment, we probed learning of ordinal-complex sequences with strong metrical organization, and again there was no learning. We conclude that ordinal load is a key obstacle to incidental temporal learning. Further analyses showed that the effect of ordinal load is to mask the expression of temporal knowledge, rather than to prevent learning.
  • Silva, S., Folia, V., Hagoort, P., & Petersson, K. M. (2017). The P600 in Implicit Artificial Grammar Learning. Cognitive Science, 41(1), 137-157. doi:10.1111/cogs.12343.

    Abstract

    The suitability of the Artificial Grammar Learning (AGL) paradigm to capture relevant aspects of the acquisition of linguistic structures has been empirically tested in a number of EEG studies. Some have shown a syntax-related P600 component, but it has not been ruled out that the AGL P600 effect is a response to surface features (e.g., subsequence familiarity) rather than the underlying syntax structure. Therefore, in this study, we controlled for the surface characteristics of the test sequences (associative chunk strength) and recorded the EEG before (baseline preference classification) and
    after (preference and grammaticality classification) exposure to a grammar. A typical, centroparietal P600 effect was elicited by grammatical violations after exposure, suggesting that the AGL P600 effect signals a response to structural irregularities. Moreover, preference and grammaticality classification showed a qualitatively similar ERP profile, strengthening the idea that the implicit structural mere
    exposure paradigm in combination with preference classification is a suitable alternative to the traditional grammaticality classification test.
  • Silva, S., Inácio, F., Rocha e Sousa, D., Gaspar, N., Folia, V., & Petersson, K. M. (2023). Formal language hierarchy reflects different levels of cognitive complexity. Journal of Experimental Psychology: Learning, Memory, and Cognition, 49(4), 642-660. doi:10.1037/xlm0001182.

    Abstract

    Formal language hierarchy describes levels of increasing syntactic complexity (adjacent dependencies, nonadjacent nested, nonadjacent crossed) of which the transcription into a hierarchy of cognitive complexity remains under debate. The cognitive foundations of formal language hierarchy have been contradicted by two types of evidence: First, adjacent dependencies are not easier to learn compared to nonadjacent; second, crossed nonadjacent dependencies may be easier than nested. However, studies providing these findings may have engaged confounds: Repetition monitoring strategies may have accounted for participants’ high performance in nonadjacent dependencies, and linguistic experience may have accounted for the advantage of crossed dependencies. We conducted two artificial grammar learning experiments where we addressed these confounds by manipulating reliance on repetition monitoring and by testing participants inexperienced with crossed dependencies. Results showed relevant differences in learning adjacent versus nonadjacent dependencies and advantages of nested over crossed, suggesting that formal language hierarchy may indeed translate into a hierarchy of cognitive complexity
  • Simon, E., & Sjerps, M. J. (2017). Phonological category quality in the mental lexicon of child and adult learners. International Journal of Bilingualism, 21(4), 474-499. doi:10.1177/1367006915626589.

    Abstract

    Aims and objectives: The aim was to identify which criteria children use to decide on the category membership of native and non-native vowels, and to get insight into the organization of phonological representations in the bilingual mind. Methodology: The study consisted of two cross-language mispronunciation detection tasks in which L2 vowels were inserted into L1 words and vice versa. In Experiment 1, 10- to 12-year-old Dutch-speaking children were presented with Dutch words which were either pronounced with the target Dutch vowel or with an English vowel inserted in the Dutch consonantal frame. Experiment 2 was a mirror of the first, with English words which were pronounced “correctly” or which were “mispronounced” with a Dutch vowel. Data and analysis: Analyses focused on extent to which child and adult listeners accepted substitutions of Dutch vowels by English ones, and vice versa. Findings: The results of Experiment 1 revealed that between the age of ten and twelve children have well-established phonological vowel categories in their native language. However, Experiment 2 showed that in their non-native language, children tended to accept mispronounced items which involve sounds from their native language. At the same time, though, they did not fully rely on their native phonemic inventory because the children accepted most of the correctly pronounced English items. Originality: While many studies have examined native and non-native perception by infants and adults, studies on first and second language perception of school-age children are rare. This study adds to the body of literature aimed at expanding our knowledge in this area. Implications: The study has implications for models of the organization of the bilingual mind: while proficient adult non-native listeners generally have clearly separated sets of phonological representations for their two languages, for non-proficient child learners the L1 phonology still exerts a strong influence on the L2 phonology.
  • Skeide, M. A., Kumar, U., Mishra, R. K., Tripathi, V. N., Guleria, A., Singh, J. P., Eisner, F., & Huettig, F. (2017). Learning to read alters cortico-subcortical crosstalk in the visual system of illiterates. Science Advances, 5(3): e1602612. doi:10.1126/sciadv.1602612.

    Abstract

    Learning to read is known to result in a reorganization of the developing cerebral cortex. In this longitudinal resting-state functional magnetic resonance imaging study in illiterate adults we show that only 6 months of literacy training can lead to neuroplastic changes in the mature brain. We observed that literacy-induced neuroplasticity is not confined to the cortex but increases the functional connectivity between the occipital lobe and subcortical areas in the midbrain and
    the thalamus. Individual rates of connectivity increase were significantly related to the individualdecoding skill gains. These findings crucially complement current neurobiological concepts ofnormal and impaired literacy acquisition.
  • Skiba, R., Wittenburg, F., & Trilsbeek, P. (2004). New DoBeS web site: Contents & functions. Language Archive Newsletter, 1(2), 4-4.
  • Skiba, R., & Dittmar, N. (1992). Pragmatic, semantic and syntactic constraints and grammaticalization: A longitudinal perspective. Studies in Second Language Acquisition, 14, 323-349. doi:10.1017/S0272263100011141.
  • Skirgard, H., Roberts, S. G., & Yencken, L. (2017). Why are some languages confused for others? Investigating data from the Great Language Game. PLoS One, 12(4): e0165934. doi:10.1371/journal.pone.0165934.

    Abstract

    In this paper we explore the results of a large-scale online game called ‘the Great Language Game’, in which people listen to an audio speech sample and make a forced-choice guess about the identity of the language from 2 or more alternatives. The data include 15 million guesses from 400 audio recordings of 78 languages. We investigate which languages are confused for which in the game, and if this correlates with the similarities that linguists identify between languages. This includes shared lexical items, similar sound inventories and established historical relationships. Our findings are, as expected, that players are more likely to confuse two languages that are objectively more similar. We also investigate factors that may affect players’ ability to accurately select the target language, such as how many people speak the language, how often the language is mentioned in written materials and the economic power of the target language community. We see that non-linguistic factors affect players’ ability to accurately identify the target. For example, languages with wider ‘global reach’ are more often identified correctly. This suggests that both linguistic and cultural knowledge influence the perception and recognition of languages and their similarity.
  • Skirgård, H., Haynie, H. J., Blasi, D. E., Hammarström, H., Collins, J., Latarche, J. J., Lesage, J., Weber, T., Witzlack-Makarevich, A., Passmore, S., Chira, A., Maurits, L., Dinnage, R., Dunn, M., Reesink, G., Singer, R., Bowern, C., Epps, P. L., Hill, J., Vesakoski, O. and 85 moreSkirgård, H., Haynie, H. J., Blasi, D. E., Hammarström, H., Collins, J., Latarche, J. J., Lesage, J., Weber, T., Witzlack-Makarevich, A., Passmore, S., Chira, A., Maurits, L., Dinnage, R., Dunn, M., Reesink, G., Singer, R., Bowern, C., Epps, P. L., Hill, J., Vesakoski, O., Robbeets, M., Abbas, N. K., Auer, D., Bakker, N. A., Barbos, G., Borges, R. D., Danielsen, S., Dorenbusch, L., Dorn, E., Elliott, J., Falcone, G., Fischer, J., Ghanggo Ate, Y., Gibson, H., Göbel, H.-P., Goodall, J. A., Gruner, V., Harvey, A., Hayes, R., Heer, L., Herrera Miranda, R. E., Hübler, N., Huntington-Rainey, B. H., Ivani, J. K., Johns, M., Just, E., Kashima, E., Kipf, C., Klingenberg, J. V., König, N., Koti, A., Kowalik, R. G. A., Krasnoukhova, O., Lindvall, N. L. M., Lorenzen, M., Lutzenberger, H., Martins, T. R., Mata German, C., Van der Meer, S., Montoya Samamé, J., Müller, M., Muradoglu, S., Neely, K., Nickel, J., Norvik, M., Oluoch, C. A., Peacock, J., Pearey, I. O., Peck, N., Petit, S., Pieper, S., Poblete, M., Prestipino, D., Raabe, L., Raja, A., Reimringer, J., Rey, S. C., Rizaew, J., Ruppert, E., Salmon, K. K., Sammet, J., Schembri, R., Schlabbach, L., Schmidt, F. W., Skilton, A., Smith, W. D., De Sousa, H., Sverredal, K., Valle, D., Vera, J., Voß, J., Witte, T., Wu, H., Yam, S., Ye, J., Yong, M., Yuditha, T., Zariquiey, R., Forkel, R., Evans, N., Levinson, S. C., Haspelmath, M., Greenhill, S. J., Atkinson, Q., & Gray, R. D. (2023). Grambank reveals the importance of genealogical constraints on linguistic diversity and highlights the impact of language loss. Science Advances, 9(16): eadg6175. doi:10.1126/sciadv.adg6175.

    Abstract

    While global patterns of human genetic diversity are increasingly well characterized, the diversity of human languages remains less systematically described. Here, we outline the Grambank database. With over 400,000 data points and 2400 languages, Grambank is the largest comparative grammatical database available. The comprehensiveness of Grambank allows us to quantify the relative effects of genealogical inheritance and geographic proximity on the structural diversity of the world’s languages, evaluate constraints on linguistic diversity, and identify the world’s most unusual languages. An analysis of the consequences of language loss reveals that the reduction in diversity will be strikingly uneven across the major linguistic regions of the world. Without sustained efforts to document and revitalize endangered languages, our linguistic window into human history, cognition, and culture will be seriously fragmented.
  • Slaats, S., Weissbart, H., Schoffelen, J.-M., Meyer, A. S., & Martin, A. E. (2023). Delta-band neural responses to individual words are modulated by sentence processing. The Journal of Neuroscience, 43(26), 4867-4883. doi:10.1523/JNEUROSCI.0964-22.2023.

    Abstract

    To understand language, we need to recognize words and combine them into phrases and sentences. During this process, responses to the words themselves are changed. In a step towards understanding how the brain builds sentence structure, the present study concerns the neural readout of this adaptation. We ask whether low-frequency neural readouts associated with words change as a function of being in a sentence. To this end, we analyzed an MEG dataset by Schoffelen et al. (2019) of 102 human participants (51 women) listening to sentences and word lists, the latter lacking any syntactic structure and combinatorial meaning. Using temporal response functions and a cumulative model-fitting approach, we disentangled delta- and theta-band responses to lexical information (word frequency), from responses to sensory- and distributional variables. The results suggest that delta-band responses to words are affected by sentence context in time and space, over and above entropy and surprisal. In both conditions, the word frequency response spanned left temporal and posterior frontal areas; however, the response appeared later in word lists than in sentences. In addition, sentence context determined whether inferior frontal areas were responsive to lexical information. In the theta band, the amplitude was larger in the word list condition around 100 milliseconds in right frontal areas. We conclude that low-frequency responses to words are changed by sentential context. The results of this study speak to how the neural representation of words is affected by structural context, and as such provide insight into how the brain instantiates compositionality in language.
  • Slim, M. S., & Hartsuiker, R. J. (2023). Moving visual world experiments online? A web-based replication of Dijkgraaf, Hartsuiker, and Duyck (2017) using PCIbex and WebGazer.js. Behavior Research Methods, 55, 3786-3804. doi:10.3758/s13428-022-01989-z.

    Abstract

    The visual world paradigm is one of the most influential paradigms to study real-time language processing. The present study tested whether visual world studies can be moved online, using PCIbex software (Zehr & Schwarz, 2018) and the WebGazer.js algorithm (Papoutsaki et al., 2016) to collect eye-movement data. Experiment 1 was a fixation task in which the participants looked at a fixation cross in multiple positions on the computer screen. Experiment 2 was a web-based replication of a visual world experiment by Dijkgraaf et al. (2017). Firstly, both experiments revealed that the spatial accuracy of the data allowed us to distinguish looks across the four quadrants of the computer screen. This suggest that the spatial resolution of WebGazer.js is fine-grained enough for most visual world experiments (which typically involve a two-by-two quadrant-based set-up of the visual display). Secondly, both experiments revealed a delay of roughly 300 ms in the time course of the eye movements, possibly caused by the internal processing speed of the browser or WebGazer.js. This delay can be problematic in studying questions that require a fine-grained temporal resolution and requires further investigation.
  • Slim, M. S., Lauwers, P., & Hartsuiker, R. J. (2023). How abstract are logical representations? The role of verb semantics in representing quantifier scope. Glossa Psycholinguistics, 2(1): 9. doi:10.5070/G6011175.

    Abstract

    Language comprehension involves the derivation of the meaning of sentences by combining the meanings of their parts. In some cases, this can lead to ambiguity. A sentence like Every hiker climbed a hill allows two logical representations: One that specifies that every hiker climbed a different hill and one that specifies that every hiker climbed the same hill. The interpretations of such sentences can be primed: Exposure to a particular reading increases the likelihood that the same reading will be assigned to a subsequent similar sentence. Feiman and Snedeker (2016) observed that such priming is not modulated by overlap of the verb between prime and target. This indicates that mental logical representations specify the compositional structure of the sentence meaning without conceptual meaning content. We conducted a close replication of Feiman and Snedeker’s experiment in Dutch and found no verb-independent priming. Moreover, a comparison with a previous, within-verb priming experiment showed an interaction, suggesting stronger verb-specific than abstract priming. A power analysis revealed that both Feiman and Snedeker’s experiment and our Experiment 1 were underpowered. Therefore, we replicated our Experiment 1, using the sample size guidelines provided by our power analysis. This experiment again showed that priming was stronger if a prime-target pair contained the same verb. Together, our experiments show that logical representation priming is enhanced if the prime and target sentence contain the same verb. This suggests that logical representations specify compositional structure and meaning features in an integrated manner.
  • Slonimska, A., & Roberts, S. G. (2017). A case for systematic sound symbolism in pragmatics: Universals in wh-words. Journal of Pragmatics, 116, 1-20. doi:10.1016/j.pragma.2017.04.004.

    Abstract

    This study investigates whether there is a universal tendency for content
    interrogative words (wh-­words) within a language to sound similar in order to facilitate
    pragmatic inference in conversation. Gaps between turns in conversation are very
    short, meaning that listeners must begin planning their turn as soon as possible.
    While previous research has shown that paralinguistic features such as prosody and
    eye gaze provide cues to the pragmatic function of upcoming turns, we hypothesise
    that a systematic phonetic cue that marks interrogative words would also help early
    recognition of questions (allowing early preparation of answers), for instance wh-­
    words sounding similar within a language. We analyzed 226 languages from 66
    different language families by means of permutation tests. We found that initial
    segments of wh-­words were more similar within a language than between languages,
    also when controlling for language family, geographic area (stratified permutation)
    and analyzability (compound phrases excluded). Random samples tests revealed that
    initial segments of wh-­words were more similar than initial segments of randomly
    selected word sets and conceptually related word sets (e.g., body parts, actions,
    pronouns). Finally, we hypothesized that this cue would be more useful at the
    beginning of a turn, so the similarity of the initial segment of wh-­words should be
    greater in languages that place them at the beginning of a clause. We gathered
    typological data on 110 languages, and found the predicted trend, although statistical
    significance was not attained. While there may be several mechanisms that bring
    about this pattern (e.g., common derivation), we suggest that the ultimate explanation
    of the similarity of interrogative words is to facilitate early speech-­act recognition.
    Importantly, this hypothesis can be tested empirically, and the current results provide
    a sound basis for future experimental tests.
  • Smith, A. C., Monaghan, P., & Huettig, F. (2017). The multimodal nature of spoken word processing in the visual world: Testing the predictions of alternative models of multimodal integration. Journal of Memory and Language, 93, 276-303. doi:10.1016/j.jml.2016.08.005.

    Abstract

    Ambiguity in natural language is ubiquitous, yet spoken communication is effective due to integration of information carried in the speech signal with information available in the surrounding multimodal landscape. Language mediated visual attention requires visual and linguistic information integration and has thus been used to examine properties of the architecture supporting multimodal processing during spoken language comprehension. In this paper we test predictions generated by alternative models of this multimodal system. A model (TRACE) in which multimodal information is combined at the point of the lexical representations of words generated predictions of a stronger effect of phonological rhyme relative to semantic and visual information on gaze behaviour, whereas a model in which sub-lexical information can interact across modalities (MIM) predicted a greater influence of visual and semantic information, compared to phonological rhyme. Two visual world experiments designed to test these predictions offer support for sub-lexical multimodal interaction during online language processing.
  • Snijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., Van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E. and 29 moreSnijders Blok, L., Verseput, J., Rots, D., Venselaar, H., Innes, A. M., Stumpel, C., Õunap, K., Reinson, K., Seaby, E. G., McKee, S., Burton, B., Kim, K., Van Hagen, J. M., Waisfisz, Q., Joset, P., Steindl, K., Rauch, A., Li, D., Zackai, E. H., Sheppard, S. E., Keena, B., Hakonarson, H., Roos, A., Kohlschmidt, N., Cereda, A., Iascone, M., Rebessi, E., Kernohan, K. D., Campeau, P. M., Millan, F., Taylor, J. A., Lochmüller, H., Higgs, M. R., Goula, A., Bernhard, B., Velasco, D. J., Schmanski, A. A., Stark, Z., Gallacher, L., Pais, L., Marcogliese, P. C., Yamamoto, S., Raun, N., Jakub, T. E., Kramer, J. M., Den Hoed, J., Fisher, S. E., Brunner, H. G., & Kleefstra, T. (2023). A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Human Genetics and Genomics Advances, 4(1): 100157. doi:10.1016/j.xhgg.2022.100157.

    Abstract

    WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several protein complexes that affect gene regulation via post-translational modification of histones. We collected data from 11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals, and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (N=11), intellectual disability (N=9), epilepsy (N=7) and autism spectrum disorder (N=4). Additional phenotypic features included abnormal growth parameters (N=7), heart anomalies (N=2) and hearing loss (N=2). Three-dimensional protein structures indicate that all the residues affected by these variants are located at the surface of one side of the WDR5 protein. It is predicted that five out of the six amino acid substitutions disrupt interactions of WDR5 with RbBP5 and/or KMT2A/C, as part of the COMPASS (complex proteins associated with Set1) family complexes. Our experimental approaches in Drosophila melanogaster and human cell lines show normal protein expression, localization and protein-protein interactions for all tested variants. These results, together with the clustering of variants in a specific region of WDR5 and the absence of truncating variants so far, suggest that dominant-negative or gain-of-function mechanisms might be at play. All in all, we define a neurodevelopmental disorder associated with missense variants in WDR5 and a broad range of features. This finding highlights the important role of genes encoding COMPASS family proteins in neurodevelopmental disorders.
  • Söderström, P., & Cutler, A. (2023). Early neuro-electric indication of lexical match in English spoken-word recognition. PLOS ONE, 18(5): e0285286. doi:10.1371/journal.pone.0285286.

    Abstract

    We investigated early electrophysiological responses to spoken English words embedded in neutral sentence frames, using a lexical decision paradigm. As words unfold in time, similar-sounding lexical items compete for recognition within 200 milliseconds after word onset. A small number of studies have previously investigated event-related potentials in this time window in English and French, with results differing in direction of effects as well as component scalp distribution. Investigations of spoken-word recognition in Swedish have reported an early left-frontally distributed event-related potential that increases in amplitude as a function of the probability of a successful lexical match as the word unfolds. Results from the present study indicate that the same process may occur in English: we propose that increased certainty of a ‘word’ response in a lexical decision task is reflected in the amplitude of an early left-anterior brain potential beginning around 150 milliseconds after word onset. This in turn is proposed to be connected to the probabilistically driven activation of possible upcoming word forms.

    Additional information

    The datasets are available here
  • Soheili-Nezhad, S., Sprooten, E., Tendolkar, I., & Medici, M. (2023). Exploring the genetic link between thyroid dysfunction and common psychiatric disorders: A specific hormonal or a general autoimmune comorbidity. Thyroid, 33(2), 159-168. doi:10.1089/thy.2022.0304.

    Abstract

    Background: The hypothalamus-pituitary-thyroid axis coordinates brain development and postdevelopmental function. Thyroid hormone (TH) variations, even within the normal range, have been associated with the risk of developing common psychiatric disorders, although the underlying mechanisms remain poorly understood.

    Methods: To get new insight into the potentially shared mechanisms underlying thyroid dysfunction and psychiatric disorders, we performed a comprehensive analysis of multiple phenotypic and genotypic databases. We investigated the relationship of thyroid disorders with depression, bipolar disorder (BIP), and anxiety disorders (ANXs) in 497,726 subjects from U.K. Biobank. We subsequently investigated genetic correlations between thyroid disorders, thyrotropin (TSH), and free thyroxine (fT4) levels, with the genome-wide factors that predispose to psychiatric disorders. Finally, the observed global genetic correlations were furthermore pinpointed to specific local genomic regions.

    Results: Hypothyroidism was positively associated with an increased risk of major depressive disorder (MDD; OR = 1.31, p = 5.29 × 10−89), BIP (OR = 1.55, p = 0.0038), and ANX (OR = 1.16, p = 6.22 × 10−8). Hyperthyroidism was associated with MDD (OR = 1.11, p = 0.0034) and ANX (OR = 1.34, p = 5.99 × 10−⁶). Genetically, strong coheritability was observed between thyroid disease and both major depressive (rg = 0.17, p = 2.7 × 10−⁴) and ANXs (rg = 0.17, p = 6.7 × 10−⁶). This genetic correlation was particularly strong at the major histocompatibility complex locus on chromosome 6 (p < 10−⁵), but further analysis showed that other parts of the genome also contributed to this global effect. Importantly, neither TSH nor fT4 levels were genetically correlated with mood disorders.

    Conclusions: Our findings highlight an underlying association between autoimmune hypothyroidism and mood disorders, which is not mediated through THs and in which autoimmunity plays a prominent role. While these findings could shed new light on the potential ineffectiveness of treating (minor) variations in thyroid function in psychiatric disorders, further research is needed to identify the exact underlying molecular mechanisms.

    Additional information

    supplementary table S1
  • Sollis, E., Deriziotis, P., Saitsu, H., Miyake, N., Matsumoto, N., J.V.Hoffer, M. J. V., Ruivenkamp, C. A., Alders, M., Okamoto, N., Bijlsma, E. K., Plomp, A. S., & Fisher, S. E. (2017). Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Human Mutation, 38(11), 1542-1554. doi:10.1002/humu.23303.

    Abstract

    The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients. The variant, p.R514H, is located in the forkhead-box DNA-binding domain and is equivalent to the well-studied p.R553H FOXP2 variant that co-segregates with CAS in a large UK family. We present here for the first time a direct comparison of the molecular and clinical consequences of the same mutation affecting the equivalent residue in FOXP1 and FOXP2. Detailed functional characterization of the two variants in cell model systems revealed very similar molecular consequences, including aberrant subcellular localization, disruption of transcription factor activity and deleterious effects on protein interactions. Nonetheless, clinical manifestations were broader and more severe in the three cases carrying the p.R514H FOXP1 variant than in individuals with the p.R553H variant related to CAS, highlighting divergent roles of FOXP2 and FOXP1 in neurodevelopment.

    Additional information

    humu23303-sup-0001-SuppMat.pdf
  • Sollis, E., Den Hoed, J., Quevedo, M., Estruch, S. B., Vino, A., Dekkers, D. H. W., Demmers, J. A. A., Poot, R., Derizioti, P., & Fisher, S. E. (2023). Characterization of the TBR1 interactome: Variants associated with neurodevelopmental disorders disrupt novel protein interactions. Human Molecular Genetics, 32(9): ddac311, pp. 1497-1510. doi:10.1093/hmg/ddac311.

    Abstract

    TBR1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (NDD) combining features of autism spectrum disorder (ASD), intellectual disability (ID) and speech delay. TBR1 has been previously shown to interact with a small number of transcription factors and co-factors also involved in NDDs (including CASK, FOXP1/2/4 and BCL11A), suggesting that the wider TBR1 interactome may have a significant bearing on normal and abnormal brain development. Here we have identified approximately 250 putative TBR1-interaction partners by affinity purification coupled to mass spectrometry. As well as known TBR1-interactors such as CASK, the identified partners include transcription factors and chromatin modifiers, along with ASD- and ID-related proteins. Five interaction candidates were independently validated using bioluminescence resonance energy transfer assays. We went on to test the interaction of these candidates with TBR1 protein variants implicated in cases of NDD. The assays uncovered disturbed interactions for NDD-associated variants and identified two distinct protein-binding domains of TBR1 that have essential roles in protein–protein interaction.
  • Soutschek, A., Burke, C. J., Beharelle, A. R., Schreiber, R., Weber, S. C., Karipidis, I. I., Ten Velden, J., Weber, B., Haker, H., Kalenscher, T., & Tobler, P. N. (2017). The dopaminergic reward system underpins gender differences in social preferences. Nature Human Behaviour, 1, 819-827. doi:10.1038/s41562-017-0226-y.

    Abstract

    Women are known to have stronger prosocial preferences than men, but it remains an open question as to how these behavioural differences arise from differences in brain functioning. Here, we provide a neurobiological account for the hypothesized gender difference. In a pharmacological study and an independent neuroimaging study, we tested the hypothesis that the neural reward system encodes the value of sharing money with others more strongly in women than in men. In the pharmacological study, we reduced receptor type-specific actions of dopamine, a neurotransmitter related to reward processing, which resulted in more selfish decisions in women and more prosocial decisions in men. Converging findings from an independent neuroimaging study revealed gender-related activity in neural reward circuits during prosocial decisions. Thus, the neural reward system appears to be more sensitive to prosocial rewards in women than in men, providing a neurobiological account for why women often behave more prosocially than men.

    A large body of evidence suggests that women are often more prosocial (for example, generous, altruistic and inequality averse) than men, at least when other factors such as reputation and strategic considerations are excluded1,2,3. This dissociation could result from cultural expectations and gender stereotypes, because in Western societies women are more strongly expected to be prosocial4,5,6 and sensitive to variations in social context than men1. It remains an open question, however, whether and how on a neurobiological level the social preferences of women and men arise from differences in brain functioning. The assumption of gender differences in social preferences predicts that the neural reward system’s sensitivity to prosocial and selfish rewards should differ between women and men. Specifically, the hypothesis would be that the neural reward system is more sensitive to prosocial than selfish rewards in women and more sensitive to selfish than prosocial rewards in men. The goal of the current study was to test in two independent experiments for the hypothesized gender differences on both a pharmacological and a haemodynamic level. In particular, we examined the functions of the neurotransmitter dopamine using a dopamine receptor antagonist, and the role of the striatum (a brain region strongly innervated by dopamine neurons) during social decision-making in women and men using neuroimaging.

    The neurotransmitter dopamine is thought to play a key role in neural reward processing7,8. Recent evidence suggests that dopaminergic activity is sensitive not only to rewards for oneself but to rewards for others as well9. The assumption that dopamine is sensitive to both self- and other-related outcomes is consistent with the finding that the striatum shows activation for both selfish and shared rewards10,11,12,13,14,15. The dopaminergic response may represent a net signal encoding the difference between the value of preferred and unpreferred rewards8. Regarding the hypothesized gender differences in social preferences, this account makes the following predictions. If women prefer shared (prosocial) outcomes2, women’s dopaminergic signals to shared rewards will be stronger than to non-shared (selfish) rewards, so reducing dopaminergic activity should bias women to make more selfish decisions. In line with this hypothesis, a functional imaging study reported enhanced striatal activation in female participants during charitable donations11. In contrast, if men prefer selfish over prosocial rewards, dopaminergic activity should be enhanced to selfish compared to prosocial rewards. In line with this view, upregulating dopaminergic activity in a sample of exclusively male participants increased selfish behaviour in a bargaining game16. Thus, contrary to the hypothesized effect in women, reducing dopaminergic neurotransmission should render men more prosocial. Taken together, the current study tested the following three predictions: we expected the dopaminergic reward system (1) to be more sensitive to prosocial than selfish rewards in women and (2) to be more sensitive to selfish than prosocial rewards in men. As a consequence of these two predictions, we also predicted (3) dopaminoceptive regions such as the striatum to show stronger activation to prosocial relative to selfish rewards in women than in men.

    To test these predictions, we conducted a pharmacological study in which we reduced dopaminergic neurotransmission with amisulpride. Amisulpride is a dopamine antagonist that is highly specific for dopaminergic D2/D3 receptors17. After receiving amisulpride or placebo, participants performed an interpersonal decision task18,19,20, in which they made choices between a monetary reward only for themselves (selfish reward option) and sharing money with others (prosocial reward option). We expected that blocking dopaminergic neurotransmission with amisulpride, relative to placebo, would result in fewer prosocial choices in women and more prosocial choices in men. To investigate whether potential gender-related effects of dopamine are selective for social decision-making, we also tested the effects of amisulpride on time preferences in a non-social control task that was matched to the interpersonal decision task in terms of choice structure.

    In addition, because dopaminergic neurotransmission plays a crucial role in brain regions involved in value processing, such as the striatum21, a gender-related role of dopaminergic activity for social decision-making should also be reflected by dissociable activity patterns in the striatum. Therefore, to further test our hypothesis, we investigated the neural correlates of social decision-making in a functional imaging study. In line with our predictions for the pharmacological study, we expected to find stronger striatum activity during prosocial relative to selfish decisions in women, whereas men should show enhanced activity in the striatum for selfish relative to prosocial choices.

    Additional information

    Supplementary Information
  • Speed, L. J., & Majid, A. (2017). Dutch modality exclusivity norms: Simulating perceptual modality in space. Behavior Research Methods, 49(6), 2204-2218. doi:10.3758/s13428-017-0852-3.

    Abstract

    Perceptual information is important for the meaning of nouns. We present modality exclusivity norms for 485 Dutch nouns rated on visual, auditory, haptic, gustatory, and olfactory associations. We found these nouns are highly multimodal. They were rated most dominant in vision, and least in olfaction. A factor analysis identified two main dimensions: one loaded strongly on olfaction and gustation (reflecting joint involvement in flavor), and a second loaded strongly on vision and touch (reflecting joint involvement in manipulable objects). In a second study, we validated the ratings with similarity judgments. As expected, words from the same dominant modality were rated more similar than words from different dominant modalities; but – more importantly – this effect was enhanced when word pairs had high modality strength ratings. We further demonstrated the utility of our ratings by investigating whether perceptual modalities are differentially experienced in space, in a third study. Nouns were categorized into their dominant modality and used in a lexical decision experiment where the spatial position of words was either in proximal or distal space. We found words dominant in olfaction were processed faster in proximal than distal space compared to the other modalities, suggesting olfactory information is mentally simulated as “close” to the body. Finally, we collected ratings of emotion (valence, dominance, and arousal) to assess its role in perceptual space simulation, but the valence did not explain the data. So, words are processed differently depending on their perceptual associations, and strength of association is captured by modality exclusivity ratings.

    Additional information

    13428_2017_852_MOESM1_ESM.xlsx
  • Stärk, K., Kidd, E., & Frost, R. L. A. (2023). Close encounters of the word kind: Attested distributional information boosts statistical learning. Language Learning, 73(2), 341-373. doi:10.1111/lang.12523.

    Abstract

    Statistical learning, the ability to extract regularities from input (e.g., in language), is likely supported by learners’ prior expectations about how component units co-occur. In this study, we investigated how adults’ prior experience with sublexical regularities in their native language influences performance on an empirical language learning task. Forty German-speaking adults completed a speech repetition task in which they repeated eight-syllable sequences from two experimental languages: one containing disyllabic words comprised of frequently occurring German syllable transitions (naturalistic words) and the other containing words made from unattested syllable transitions (non-naturalistic words). The participants demonstrated learning from both naturalistic and non-naturalistic stimuli. However, learning was superior for the naturalistic sequences, indicating that the participants had used their existing distributional knowledge of German to extract the naturalistic words faster and more accurately than the non-naturalistic words. This finding supports theories of statistical learning as a form of chunking, whereby frequently co-occurring units become entrenched in long-term memory.

    Additional information

    accessible summary appendix S1
  • Stergiakouli, E., Martin, J., Hamshere, M. L., Heron, J., St Pourcain, B., Timpson, N. J., Thapar, A., & Smith, G. D. (2017). Association between polygenic risk scores for attention-deficit hyperactivity disorder and educational and cognitive outcomes in the general population. International Journal of Epidemiology, 46(2), 421-428. doi:10.1093/ije/dyw216.

    Abstract

    Background: Children with a diagnosis of attention-deficit hyperactivity disorder (ADHD) have lower cognitive ability and are at risk of adverse educational outcomes; ADHD genetic risks have been found to predict childhood cognitive ability and other neurodevelopmental traits in the general population; thus genetic risks might plausibly also contribute to cognitive ability later in development and to educational underachievement.

    Methods: We generated ADHD polygenic risk scores in the Avon Longitudinal Study of Parents and Children participants (maximum N: 6928 children and 7280 mothers) based on the results of a discovery clinical sample, a genome-wide association study of 727 cases with ADHD diagnosis and 5081 controls. We tested if ADHD polygenic risk scores were associated with educational outcomes and IQ in adolescents and their mothers.

    Results: High ADHD polygenic scores in adolescents were associated with worse educational outcomes at Key Stage 3 [national tests conducted at age 13–14 years; β = −1.4 (−2.0 to −0.8), P = 2.3 × 10−6), at General Certificate of Secondary Education exams at age 15–16 years (β = −4.0 (−6.1 to −1.9), P = 1.8 × 10−4], reduced odds of sitting Key Stage 5 examinations at age 16–18 years [odds ratio (OR) = 0.90 (0.88 to 0.97), P = 0.001] and lower IQ scores at age 15.5 [β = −0.8 (−1.2 to −0.4), P = 2.4 × 10−4]. Moreover, maternal ADHD polygenic scores were associated with lower maternal educational achievement [β = −0.09 (−0.10 to −0.06), P = 0.005] and lower maternal IQ [β = −0.6 (−1.2 to −0.1), P = 0.03].

    Conclusions: ADHD diagnosis risk alleles impact on functional outcomes in two generations (mother and child) and likely have intergenerational environmental effects.
  • Stergiakouli, E., Smith, G. D., Martin, J., Skuse, D. H., Viechtbauer, W., Ring, S. M., Ronald, A., Evans, D. E., Fisher, S. E., Thapar, A., & St Pourcain, B. (2017). Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development. Molecular Autism, 8: 18. doi:10.1186/s13229-017-0131-2.

    Abstract

    Background: Shared genetic influences between attention-deficit/hyperactivity disorder (ADHD) symptoms and
    autism spectrum disorder (ASD) symptoms have been reported. Cross-trait genetic relationships are, however,
    subject to dynamic changes during development. We investigated the continuity of genetic overlap between ASD
    and ADHD symptoms in a general population sample during childhood and adolescence. We also studied uni- and
    cross-dimensional trait-disorder links with respect to genetic ADHD and ASD risk.
    Methods: Social-communication difficulties (N ≤ 5551, Social and Communication Disorders Checklist, SCDC) and
    combined hyperactive-impulsive/inattentive ADHD symptoms (N ≤ 5678, Strengths and Difficulties Questionnaire,
    SDQ-ADHD) were repeatedly measured in a UK birth cohort (ALSPAC, age 7 to 17 years). Genome-wide summary
    statistics on clinical ASD (5305 cases; 5305 pseudo-controls) and ADHD (4163 cases; 12,040 controls/pseudo-controls)
    were available from the Psychiatric Genomics Consortium. Genetic trait variances and genetic overlap between
    phenotypes were estimated using genome-wide data.
    Results: In the general population, genetic influences for SCDC and SDQ-ADHD scores were shared throughout
    development. Genetic correlations across traits reached a similar strength and magnitude (cross-trait rg ≤ 1,
    pmin = 3 × 10−4) as those between repeated measures of the same trait (within-trait rg ≤ 0.94, pmin = 7 × 10−4).
    Shared genetic influences between traits, especially during later adolescence, may implicate variants in K-RAS signalling
    upregulated genes (p-meta = 6.4 × 10−4).
    Uni-dimensionally, each population-based trait mapped to the expected behavioural continuum: risk-increasing alleles
    for clinical ADHD were persistently associated with SDQ-ADHD scores throughout development (marginal regression
    R2 = 0.084%). An age-specific genetic overlap between clinical ASD and social-communication difficulties during
    childhood was also shown, as per previous reports. Cross-dimensionally, however, neither SCDC nor SDQ-ADHD scores
    were linked to genetic risk for disorder.
    Conclusions: In the general population, genetic aetiologies between social-communication difficulties and ADHD
    symptoms are shared throughout child and adolescent development and may implicate similar biological pathways
    that co-vary during development. Within both the ASD and the ADHD dimension, population-based traits are also linked
    to clinical disorder, although much larger clinical discovery samples are required to reliably detect cross-dimensional
    trait-disorder relationships.
  • Stivers, T. (2004). Potilaan vastarinta: Keino vaikuttaa lääkärin hoitopäätökseen. Sosiaalilääketieteellinen Aikakauslehti, 41, 199-213.
  • Stivers, T., Rossi, G., & Chalfoun, A. (2023). Ambiguities in action ascription. Social Forces, 101(3), 1552-1579. doi:10.1093/sf/soac021.

    Abstract

    In everyday interactions with one another, speakers not only say things but also do things like offer, complain, reject, and compliment. Through observation, it is possible to see that much of the time people unproblematically understand what others are doing. Research on conversation has further documented how speakers’ word choice, prosody, grammar, and gesture all help others to recognize what actions they are performing. In this study, we rely on spontaneous naturally occurring conversational data where people have trouble making their actions understood to examine what leads to ambiguous actions, bringing together prior research and identifying recurrent types of ambiguity that hinge on different dimensions of social action. We then discuss the range of costs and benefits for social actors when actions are clear versus ambiguous. Finally, we offer a conceptual model of how, at a microlevel, action ascription is done. Actions in interaction are building blocks for social relations; at each turn, an action can strengthen or strain the bond between two individuals. Thus, a unified theory of action ascription at a microlevel is an essential component for broader theories of social action and of how social actions produce, maintain, and revise the social world.
  • Stivers, T. (2004). "No no no" and other types of multiple sayings in social interaction. Human Communication Research, 30(2), 260-293. doi:10.1111/j.1468-2958.2004.tb00733.x.

    Abstract

    Relying on the methodology of conversation analysis, this article examines a practice in ordinary conversation characterized by the resaying of a word, phrase, or sentence. The article shows that multiple sayings such as "No no no" or "Alright alright alright" are systematic in both their positioning relative to the interlocutor's talk and in their function. Specifically, the findings are that multiple sayings are a resource speakers have to display that their turn is addressing an in progress course of action rather than only the just prior utterance. Speakers of multiple sayings communicate their stance that the prior speaker has persisted unnecessarily in the prior course of action and should properly halt course of action.
  • Stoehr, A., Benders, T., Van Hell, J. G., & Fikkert, P. (2017). Second language attainment and first language attrition: The case of VOT in immersed Dutch–German late bilinguals. Second Language Research, 33(4), 483-518. doi:10.1177/0267658317704261.

    Abstract

    Speech of late bilinguals has frequently been described in terms of cross-linguistic influence (CLI) from the native language (L1) to the second language (L2), but CLI from the L2 to the L1 has received relatively little attention. This article addresses L2 attainment and L1 attrition in voicing systems through measures of voice onset time (VOT) in two groups of Dutch–German late bilinguals in the Netherlands. One group comprises native speakers of Dutch and the other group comprises native speakers of German, and the two groups further differ in their degree of L2 immersion. The L1-German–L2-Dutch bilinguals (N = 23) are exposed to their L2 at home and outside the home, and the L1-Dutch–L2-German bilinguals (N = 18) are only exposed to their L2 at home. We tested L2 attainment by comparing the bilinguals’ L2 to the other bilinguals’ L1, and L1 attrition by comparing the bilinguals’ L1 to Dutch monolinguals (N = 29) and German monolinguals (N = 27). Our findings indicate that complete L2 immersion may be advantageous in L2 acquisition, but at the same time it may cause L1 phonetic attrition. We discuss how the results match the predictions made by Flege’s Speech Learning Model and explore how far bilinguals’ success in acquiring L2 VOT and maintaining L1 VOT depends on the immersion context, articulatory constraints and the risk of sounding foreign accented.
  • Ye, Z., Stolk, A., Toni, I., & Hagoort, P. (2017). Oxytocin modulates semantic integration in speech comprehension. Journal of Cognitive Neuroscience, 29, 267-276. doi:10.1162/jocn_a_01044.

    Abstract

    Listeners interpret utterances by integrating information from multiple sources including word level semantics and world knowledge. When the semantics of an expression is inconsistent with his or her knowledge about the world, the listener may have to search through the conceptual space for alternative possible world scenarios that can make the expression more acceptable. Such cognitive exploration requires considerable computational resources and might depend on motivational factors. This study explores whether and how oxytocin, a neuropeptide known to influence socialmotivation by reducing social anxiety and enhancing affiliative tendencies, can modulate the integration of world knowledge and sentence meanings. The study used a betweenparticipant double-blind randomized placebo-controlled design. Semantic integration, indexed with magnetoencephalography through the N400m marker, was quantified while 45 healthymale participants listened to sentences that were either congruent or incongruent with facts of the world, after receiving intranasally delivered oxytocin or placebo. Compared with congruent sentences, world knowledge incongruent sentences elicited a stronger N400m signal from the left inferior frontal and anterior temporal regions and medial pFC (the N400m effect) in the placebo group. Oxytocin administration significantly attenuated the N400meffect at both sensor and cortical source levels throughout the experiment, in a state-like manner. Additional electrophysiological markers suggest that the absence of the N400m effect in the oxytocin group is unlikely due to the lack of early sensory or semantic processing or a general downregulation of attention. These findings suggest that oxytocin drives listeners to resolve challenges of semantic integration, possibly by promoting the cognitive exploration of alternative possible world scenarios.
  • Tachmazidou, I., Süveges, D., Min, J. L., Ritchie, G. R. S., Steinberg, J., Walter, K., Iotchkova, V., Schwartzentruber, J., Huang, J., Memari, Y., McCarthy, S., Crawford, A. A., Bombieri, C., Cocca, M., Farmaki, A.-E., Gaunt, T. R., Jousilahti, P., Kooijman, M. N., Lehne, B., Malerba, G. and 83 moreTachmazidou, I., Süveges, D., Min, J. L., Ritchie, G. R. S., Steinberg, J., Walter, K., Iotchkova, V., Schwartzentruber, J., Huang, J., Memari, Y., McCarthy, S., Crawford, A. A., Bombieri, C., Cocca, M., Farmaki, A.-E., Gaunt, T. R., Jousilahti, P., Kooijman, M. N., Lehne, B., Malerba, G., Männistö, S., Matchan, A., Medina-Gomez, C., Metrustry, S. J., Nag, A., Ntalla, I., Paternoster, L., Rayner, N. W., Sala, C., Scott, W. R., Shihab, H. A., Southam, L., St Pourcain, B., Traglia, M., Trajanoska, K., Zaza, G., Zhang, W., Artigas, M. S., Bansal, N., Benn, M., Chen, Z., Danecek, P., Lin, W.-Y., Locke, A., Luan, J., Manning, A. K., Mulas, A., Sidore, C., Tybjaerg-Hansen, A., Varbo, A., Zoledziewska, M., Finan, C., Hatzikotoulas, K., Hendricks, A. E., Kemp, J. P., Moayyeri, A., Panoutsopoulou, K., Szpak, M., Wilson, S. G., Boehnke, M., Cucca, F., Di Angelantonio, E., Langenberg, C., Lindgren, C., McCarthy, M. I., Morris, A. P., Nordestgaard, B. G., Scott, R. A., Tobin, M. D., Wareham, N. J., Burton, P., Chambers, J. C., Smith, G. D., Dedoussis, G., Felix, J. F., Franco, O. H., Gambaro, G., Gasparini, P., Hammond, C. J., Hofman, A., Jaddoe, V. W. V., Kleber, M., Kooner, J. S., Perola, M., Relton, C., Ring, S. M., Rivadeneira, F., Salomaa, V., Spector, T. D., Stegle, O., Toniolo, D., Uitterlinden, A. G., Barroso, I., Greenwood, C. M. T., Perry, J. R. B., Walker, B. R., Butterworth, A. S., Xue, Y., Durbin, R., Small, K. S., Soranzo, N., Timpson, N. J., & Zeggini, E. (2017). Whole-Genome Sequencing coupled to imputation discovers genetic signals for anthropometric traits. The American Journal of Human Genetics, 100(6), 865-884. doi:10.1016/j.ajhg.2017.04.014.

    Abstract

    Deep sequence-based imputation can enhance the discovery power of genome-wide association studies by assessing previously unexplored variation across the common- and low-frequency spectra. We applied a hybrid whole-genome sequencing (WGS) and deep imputation approach to examine the broader allelic architecture of 12 anthropometric traits associated with height, body mass, and fat distribution in up to 267,616 individuals. We report 106 genome-wide significant signals that have not been previously identified, including 9 low-frequency variants pointing to functional candidates. Of the 106 signals, 6 are in genomic regions that have not been implicated with related traits before, 28 are independent signals at previously reported regions, and 72 represent previously reported signals for a different anthropometric trait. 71% of signals reside within genes and fine mapping resolves 23 signals to one or two likely causal variants. We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find signal enrichment in cis expression QTLs in relevant tissues. Our results highlight the potential of WGS strategies to enhance biologically relevant discoveries across the frequency spectrum.

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