Publications

Displaying 301 - 400 of 1326
  • Enfield, N. J., & Levinson, S. C. (2009). Metalanguage for speech acts. In A. Majid (Ed.), Field manual volume 12 (pp. 51-53). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.883559.

    Abstract

    People of all cultures have some degree of concern with categorizing types of communicative social action. All languages have words with meanings like speak, say, talk, complain, curse, promise, accuse, nod, wink, point and chant. But the exact distinctions they make will differ in both quantity and quality. How is communicative social action categorised across languages and cultures? The goal of this task is to establish a basis for cross-linguistic comparison of native metalanguages for social action.
  • Enfield, N. J. (2009). Language and culture. In L. Wei, & V. Cook (Eds.), Contemporary Applied Linguistics Volume 2 (pp. 83-97). London: Continuum.
  • Enfield, N. J. (2009). Language: Social motives for syntax [Review of the book Origins of human communication by Michael Tomasello]. Science, 324(5923), 39. doi:10.1126/science.1172660.
  • Enfield, N. J. (2009). Everyday ritual in the residential world. In G. Senft, & E. B. Basso (Eds.), Ritual communication (pp. 51-80). Oxford: Berg.
  • Enfield, N. J., & Diffloth, G. (2009). Phonology and sketch grammar of Kri, a Vietic language of Laos. Cahiers de Linguistique - Asie Orientale (CLAO), 38(1), 3-69.
  • Enfield, N. J. (2009). Relationship thinking and human pragmatics. Journal of Pragmatics, 41, 60-78. doi:10.1016/j.pragma.2008.09.007.

    Abstract

    The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.
  • Enfield, N. J. (2007). Repair sequences in interaction. In A. Majid (Ed.), Field Manual Volume 10 (pp. 100-103). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.468724.

    Abstract

    This sub-project is concerned with analysis and cross-linguistic comparison of the mechanisms of signaling and redressing ‘trouble’ during conversation. Speakers and listeners constantly face difficulties with many different aspects of speech production and comprehension during conversation. A speaker may mispronounce a word, or may be unable to find a word, or be unable to formulate in words an idea he or she has in mind. A listener may have troubling hearing (part of) what was said, may not know who a speaker is referring to, may not be sure of the current relevance of what is being said. There may be problems in the organisation of turns at talk, for instance, two speakers’ speech may be in overlap. The goal of this task is to investigate the range of practices that a language uses to address problems of speaking, hearing and understanding in conversation.
  • Enfield, N. J. (2009). The anatomy of meaning: Speech, gesture, and composite utterances. Cambridge: Cambridge University Press.
  • Enfield, N. J., Levinson, S. C., & Stivers, T. (2009). Social action formulation: A "10-minutes" task. In A. Majid (Ed.), Field manual volume 12 (pp. 54-55). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.883564.

    Abstract

    Human actions in the social world – like greeting, requesting, complaining, accusing, asking, confirming, etc. – are recognised through the interpretation of signs. Language is where much of the action is, but gesture, facial expression and other bodily actions matter as well. The goal of this task is to establish a maximally rich description of a representative, good quality piece of conversational interaction, which will serve as a reference point for comparative exploration of the status of social actions and their formulation across language
  • Enfield, N. J., Stivers, T., Brown, P., Englert, C., Harjunpää, K., Hayashi, M., Heinemann, T., Hoymann, G., Keisanen, T., Rauniomaa, M., Raymond, C. W., Rossano, F., Yoon, K.-E., Zwitserlood, I., & Levinson, S. C. (2019). Polar answers. Journal of Linguistics, 55(2), 277-304. doi:10.1017/S0022226718000336.

    Abstract

    How do people answer polar questions? In this fourteen-language study of answers to questions in conversation, we compare the two main strategies; first, interjection-type answers such as uh-huh (or equivalents yes, mm, head nods, etc.), and second, repetition-type answers that repeat some or all of the question. We find that all languages offer both options, but that there is a strong asymmetry in their frequency of use, with a global preference for interjection-type answers. We propose that this preference is motivated by the fact that the two options are not equivalent in meaning. We argue that interjection-type answers are intrinsically suited to be the pragmatically unmarked, and thus more frequent, strategy for confirming polar questions, regardless of the language spoken. Our analysis is based on the semantic-pragmatic profile of the interjection-type and repetition-type answer strategies, in the context of certain asymmetries inherent to the dialogic speech act structure of question–answer sequences, including sequential agency and thematic agency. This allows us to see possible explanations for the outlier distributions found in ǂĀkhoe Haiǁom and Tzeltal.
  • Erard, M. (2009). How Many Languages? Linguists Discover New Tongues in China. Science, 324(5925), 332-333. doi:10.1126/science.324.5925.332a.
  • Erard, M. (2019). Language aptitude: Insights from hyperpolyglots. In Z. Wen, P. Skehan, A. Biedroń, S. Li, & R. L. Sparks (Eds.), Language aptitude: Advancing theory, testing, research and practice (pp. 153-167). Abingdon, UK: Taylor & Francis.

    Abstract

    Over the decades, high-intensity language learners scattered over the globe referred to as “hyperpolyglots” have undertaken a natural experiment into the limits of learning and acquiring proficiencies in multiple languages. This chapter details several ways in which hyperpolyglots are relevant to research on aptitude. First, historical hyperpolyglots Cardinal Giuseppe Mezzofanti, Emil Krebs, Elihu Burritt, and Lomb Kató are described in terms of how they viewed their own exceptional outcomes. Next, I draw on results from an online survey with 390 individuals to explore how contemporary hyperpolyglots consider the explanatory value of aptitude. Third, the challenges involved in studying the genetic basis of hyperpolyglottism (and by extension of language aptitude) are discussed. This mosaic of data is meant to inform the direction of future aptitude research that takes hyperpolyglots, one type of exceptional language learner and user, into account.
  • Ernestus, M., Van Mulken, M., & Baayen, R. H. (2007). Ridders en heiligen in tijd en ruimte: Moderne stylometrische technieken toegepast op Oud-Franse teksten. Taal en Tongval, 58, 1-83.

    Abstract

    This article shows that Old-French literary texts differ systematically in their relative frequencies of syntactic constructions. These frequencies reflect differences in register (poetry versus prose), region (Picardy, Champagne, and Esatern France), time period (until 1250, 1251 – 1300, 1301 – 1350), and genre (hagiography, romance of chivalry, or other).
  • Ernestus, M., & Baayen, R. H. (2007). Paradigmatic effects in auditory word recognition: The case of alternating voice in Dutch. Language and Cognitive Processes, 22(1), 1-24. doi:10.1080/01690960500268303.

    Abstract

    Two lexical decision experiments addressed the role of paradigmatic effects in auditory word recognition. Experiment 1 showed that listeners classified a form with an incorrectly voiced final obstruent more readily as a word if the obstruent is realised as voiced in other forms of that word's morphological paradigm. Moreover, if such was the case, the exact probability of paradigmatic voicing emerged as a significant predictor of the response latencies. A greater probability of voicing correlated with longer response latencies for words correctly realised with voiceless final obstruents. A similar effect of this probability was observed in Experiment 2 for words with completely voiceless or weakly voiced (incompletely neutralised) final obstruents. These data demonstrate the relevance of paradigmatically related complex words for the processing of morphologically simple words in auditory word recognition.
  • Ernestus, M., & Baayen, R. H. (2007). The comprehension of acoustically reduced morphologically complex words: The roles of deletion, duration, and frequency of occurence. In J. Trouvain, & W. J. Barry (Eds.), Proceedings of the 16th International Congress of Phonetic Sciences (ICPhs 2007) (pp. 773-776). Dudweiler: Pirrot.

    Abstract

    This study addresses the roles of segment deletion, durational reduction, and frequency of use in the comprehension of morphologically complex words. We report two auditory lexical decision experiments with reduced and unreduced prefixed Dutch words. We found that segment deletions as such delayed comprehension. Simultaneously, however, longer durations of the different parts of the words appeared to increase lexical competition, either from the word’s stem (Experiment 1) or from the word’s morphological continuation forms (Experiment 2). Increased lexical competition slowed down especially the comprehension of low frequency words, which shows that speakers do not try to meet listeners’ needs when they reduce especially high frequency words.
  • Ernestus, M., & Baayen, R. H. (2007). Intraparadigmatic effects on the perception of voice. In J. van de Weijer, & E. J. van der Torre (Eds.), Voicing in Dutch: (De)voicing-phonology, phonetics, and psycholinguistics (pp. 153-173). Amsterdam: Benjamins.

    Abstract

    In Dutch, all morpheme-final obstruents are voiceless in word-final position. As a consequence, the distinction between obstruents that are voiced before vowel-initial suffixes and those that are always voiceless is neutralized. This study adds to the existing evidence that the neutralization is incomplete: neutralized, alternating plosives tend to have shorter bursts than non-alternating plosives. Furthermore, in a rating study, listeners scored the alternating plosives as more voiced than the nonalternating plosives, showing sensitivity to the subtle subphonemic cues in the acoustic signal. Importantly, the participants who were presented with the complete words, instead of just the final rhymes, scored the alternating plosives as even more voiced. This shows that listeners’ perception of voice is affected by their knowledge of the obstruent’s realization in the word’s morphological paradigm. Apparently, subphonemic paradigmatic levelling is a characteristic of both production and perception. We explain the effects within an analogy-based approach.
  • Ernestus, M. (2009). The roles of reconstruction and lexical storage in the comprehension of regular pronunciation variants. In Proceedings of the 10th Annual Conference of the International Speech Communication Association (Interspeech 2009) (pp. 1875-1878). Causal Productions Pty Ltd.

    Abstract

    This paper investigates how listeners process regular pronunciation variants, resulting from simple general reduction processes. Study 1 shows that when listeners are presented with new words, they store the pronunciation variants presented to them, whether these are unreduced or reduced. Listeners thus store information on word-specific pronunciation variation. Study 2 suggests that if participants are presented with regularly reduced pronunciations, they also reconstruct and store the corresponding unreduced pronunciations. These unreduced pronunciations apparently have special status. Together the results support hybrid models of speech processing, assuming roles for both exemplars and abstract representations.
  • Essegbey, J., & Ameka, F. K. (2007). "Cut" and "break" verbs in Gbe and Sranan. Journal of Pidgin and Creole Languages, 22(1), 37-55. doi:10.1075/jpcl.22.1.04ess.

    Abstract

    This paper compares “cut” and “break” verbs in four variants of Gbe, namely Anfoe, Anlo, Fon and Ayizo, with those of Sranan. “Cut” verbs are change-of-state verbs that co-lexicalize the type of action that brings about a change, the type of instrument or instrument part, and the manner in which a change occurs. By contrast, break verbs co-lexicalize either the type of object or the type of change. It has been hypothesized that “cut”-verbs are unergative while breaks verbs are unaccusatives. For example “break” verbs participate in the causative alternation constructions but “cut” verbs don’t. We show that although there are some differences in the meanings of “cut” and break verbs across the Gbe languages, significant generalizations can be made with regard to their lexicalization patterns. By contrast, the meanings of “cut” and break verbs in Sranan are closer to those of their etymons in English and Dutch. However, despite the differences in the meanings of “cut” and “break” verbs between the Gbe languages and Sranan, the syntax of the verbs in Sranan is similar to that of the Eastern Gbe variants, namely Fon and Ayizo. We look at the implications of our findings for the relexification hypothesis. (copyright Benjamins)
  • Evans, N., & Levinson, S. C. (2009). The myth of language universals: Language diversity and its importance for cognitive science. Behavioral and Brain Sciences, 32(5), 429-492. doi:10.1017/S0140525X0999094X.

    Abstract

    Talk of linguistic universals has given cognitive scientists the impression that languages are all built to a common pattern. In fact, there are vanishingly few universals of language in the direct sense that all languages exhibit them. Instead, diversity can be found at almost every level of linguistic organization. This fundamentally changes the object of enquiry from a cognitive science perspective. This target article summarizes decades of cross-linguistic work by typologists and descriptive linguists, showing just how few and unprofound the universal characteristics of language are, once we honestly confront the diversity offered to us by the world's 6,000 to 8,000 languages. After surveying the various uses of “universal,” we illustrate the ways languages vary radically in sound, meaning, and syntactic organization, and then we examine in more detail the core grammatical machinery of recursion, constituency, and grammatical relations. Although there are significant recurrent patterns in organization, these are better explained as stable engineering solutions satisfying multiple design constraints, reflecting both cultural-historical factors and the constraints of human cognition.
  • Evans, N., & Levinson, S. C. (2009). With diversity in mind: Freeing the language sciences from universal grammar [Author's response]. Behavioral and Brain Sciences, 32(5), 472-484. doi:10.1017/S0140525X09990525.

    Abstract

    Our response takes advantage of the wide-ranging commentary to clarify some aspects of our original proposal and augment others. We argue against the generative critics of our coevolutionary program for the language sciences, defend the use of close-to-surface models as minimizing crosslinguistic data distortion, and stress the growing role of stochastic simulations in making generalized historical accounts testable. These methods lead the search for general principles away from idealized representations and towards selective processes. Putting cultural evolution central in understanding language diversity makes learning fundamental in the cognition of language: increasingly powerful models of general learning, paired with channelled caregiver input, seem set to manage language acquisition without recourse to any innate “universal grammar.” Understanding why human language has no clear parallels in the animal world requires a cross-species perspective: crucial ingredients are vocal learning (for which there are clear non-primate parallels) and an intentionattributing cognitive infrastructure that provides a universal base for language evolution. We conclude by situating linguistic diversity within a broader trend towards understanding human cognition through the study of variation in, for example, human genetics, neurocognition, and psycholinguistic processing.
  • Everett, D., & Majid, A. (2009). Adventures in the jungle of language. [Interview by Asifa Majid and Jon Sutton.]. The Psychologist, 22(4), 312-313. Retrieved from http://www.thepsychologist.org.uk/archive/archive_home.cfm?volumeID=22&editionID=174&ArticleID=1494.

    Abstract

    Daniel Everett has spent his career in the Amazon, challenging some fundamental ideas about language and thought. Asifa Majid and Jon Sutton pose the questions
  • Fairs, A. (2019). Linguistic dual-tasking: Understanding temporal overlap between production and comprehension. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Favier, S., Wright, A., Meyer, A. S., & Huettig, F. (2019). Proficiency modulates between- but not within-language structural priming. Journal of Cultural Cognitive Science, 3(suppl. 1), 105-124. doi:10.1007/s41809-019-00029-1.

    Abstract

    The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.
  • Fear, B. D., Cutler, A., & Butterfield, S. (1995). The strong/weak syllable distinction in English. Journal of the Acoustical Society of America, 97, 1893-1904. doi:10.1121/1.412063.

    Abstract

    Strong and weak syllables in English can be distinguished on the basis of vowel quality, of stress, or of both factors. Critical for deciding between these factors are syllables containing unstressed unreduced vowels, such as the first syllable of automata. In this study 12 speakers produced sentences containing matched sets of words with initial vowels ranging from stressed to reduced, at normal and at fast speech rates. Measurements of the duration, intensity, F0, and spectral characteristics of the word-initial vowels showed that unstressed unreduced vowels differed significantly from both stressed and reduced vowels. This result held true across speaker sex and dialect. The vowels produced by one speaker were then cross-spliced across the words within each set, and the resulting words' acceptability was rated by listeners. In general, cross-spliced words were only rated significantly less acceptable than unspliced words when reduced vowels interchanged with any other vowel. Correlations between rated acceptability and acoustic characteristics of the cross-spliced words demonstrated that listeners were attending to duration, intensity, and spectral characteristics. Together these results suggest that unstressed unreduced vowels in English pattern differently from both stressed and reduced vowels, so that no acoustic support for a binary categorical distinction exists; nevertheless, listeners make such a distinction, grouping unstressed unreduced vowels by preference with stressed vowels
  • Fedor, A., Pléh, C., Brauer, J., Caplan, D., Friederici, A. D., Gulyás, B., Hagoort, P., Nazir, T., & Singer, W. (2009). What are the brain mechanisms underlying syntactic operations? In D. Bickerton, & E. Szathmáry (Eds.), Biological foundations and origin of syntax (pp. 299-324). Cambridge, MA: MIT Press.

    Abstract

    This chapter summarizes the extensive discussions that took place during the Forum as well as the subsequent months thereafter. It assesses current understanding of the neuronal mechanisms that underlie syntactic structure and processing.... It is posited that to understand the neurobiology of syntax, it might be worthwhile to shift the balance from comprehension to syntactic encoding in language production
  • Fedorenko, E., Patel, A., Casasanto, D., Winawer, J., & Gibson, E. (2009). Structural integration in language and music: Evidence for a shared system. Memory & Cognition, 37, 1-9. doi:10.3758/MC.37.1.1.

    Abstract

    In this study, we investigate whether language and music share cognitive resources for structural processing. We report an experiment that used sung materials and manipulated linguistic complexity (subject-extracted relative clauses, object-extracted relative clauses) and musical complexity (in-key critical note, out-of-key critical note, auditory anomaly on the critical note involving a loudness increase). The auditory-anomaly manipulation was included in order to test whether the difference between in-key and out-of-key conditions might be due to any salient, unexpected acoustic event. The critical dependent measure involved comprehension accuracies to questions about the propositional content of the sentences asked at the end of each trial. The results revealed an interaction between linguistic and musical complexity such that the difference between the subject- and object-extracted relative clause conditions was larger in the out-of-key condition than in the in-key and auditory-anomaly conditions. These results provide evidence for an overlap in structural processing between language and music.
  • Felker, E. R., Ernestus, M., & Broersma, M. (2019). Evaluating dictation task measures for the study of speech perception. In S. Calhoun, P. Escudero, M. Tabain, & P. Warren (Eds.), Proceedings of the 19th International Congress of Phonetic Sciences (ICPhS 2019) (pp. 383-387). Canberra, Australia: Australasian Speech Science and Technology Association Inc.

    Abstract

    This paper shows that the dictation task, a well-
    known testing instrument in language education, has
    untapped potential as a research tool for studying
    speech perception. We describe how transcriptions
    can be scored on measures of lexical, orthographic,
    phonological, and semantic similarity to target
    phrases to provide comprehensive information about
    accuracy at different processing levels. The former
    three measures are automatically extractable,
    increasing objectivity, and the middle two are
    gradient, providing finer-grained information than
    traditionally used. We evaluate the measures in an
    English dictation task featuring phonetically reduced
    continuous speech. Whereas the lexical and
    orthographic measures emphasize listeners’ word
    identification difficulties, the phonological measure
    demonstrates that listeners can often still recover
    phonological features, and the semantic measure
    captures their ability to get the gist of the utterances.
    Correlational analyses and a discussion of practical
    and theoretical considerations show that combining
    multiple measures improves the dictation task’s
    utility as a research tool.
  • Felker, E. R., Ernestus, M., & Broersma, M. (2019). Lexically guided perceptual learning of a vowel shift in an interactive L2 listening context. In Proceedings of Interspeech 2019 (pp. 3123-3127). doi:10.21437/Interspeech.2019-1414.

    Abstract

    Lexically guided perceptual learning has traditionally been studied with ambiguous consonant sounds to which native listeners are exposed in a purely receptive listening context. To extend previous research, we investigate whether lexically guided learning applies to a vowel shift encountered by non-native listeners in an interactive dialogue. Dutch participants played a two-player game in English in either a control condition, which contained no evidence for a vowel shift, or a lexically constraining condition, in which onscreen lexical information required them to re-interpret their interlocutor’s /ɪ/ pronunciations as representing /ε/. A phonetic categorization pre-test and post-test were used to assess whether the game shifted listeners’ phonemic boundaries such that more of the /ε/-/ɪ/ continuum came to be perceived as /ε/. Both listener groups showed an overall post-test shift toward /ɪ/, suggesting that vowel perception may be sensitive to directional biases related to properties of the speaker’s vowel space. Importantly, listeners in the lexically constraining condition made relatively more post-test /ε/ responses than the control group, thereby exhibiting an effect of lexically guided adaptation. The results thus demonstrate that non-native listeners can adjust their phonemic boundaries on the basis of lexical information to accommodate a vowel shift learned in interactive conversation.
  • Felker, E. R., Klockmann, H. E., & De Jong, N. H. (2019). How conceptualizing influences fluency in first and second language speech production. Applied Psycholinguistics, 40(1), 111-136. doi:10.1017/S0142716418000474.

    Abstract

    When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.
  • Felser, C., & Roberts, L. (2007). Processing wh-dependencies in a second language: A cross-modal priming study. Second Language Research, 23(1), 9-36. doi:10.1177/0267658307071600.

    Abstract

    This study investigates the real-time processing of wh-dependencies by advanced Greek-speaking learners of English using a cross-modal picture priming task. Participants were asked to respond to different types of picture target presented either at structurally defined gap positions, or at pre-gap control positions, while listening to sentences containing indirect-object relative clauses. Our results indicate that the learners processed the experimental sentences differently from both adult native speakers of English and monolingual English-speaking children. Contrary to what has been found for native speakers, the learners' response pattern was not influenced by individual working memory differences. Adult second language learners differed from native speakers with a relatively high reading or listening span in that they did not show any evidence of structurally based antecedent reactivation at the point of the indirect object gap. They also differed from low-span native speakers, however, in that they showed evidence of maintained antecedent activation during the processing of the experimental sentences. Whereas the localized priming effect observed in the high-span controls is indicative of trace-based antecedent reactivation in native sentence processing, the results from the Greek-speaking learners support the hypothesis that the mental representations built during non-native language processing lack abstract linguistic structure such as movement traces.
  • Fields, E. C., Weber, K., Stillerman, B., Delaney-Busch, N., & Kuperberg, G. (2019). Functional MRI reveals evidence of a self-positivity bias in the medial prefrontal cortex during the comprehension of social vignettes. Social Cognitive and Affective Neuroscience, 14(6), 613-621. doi:10.1093/scan/nsz035.

    Abstract

    A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

    Additional information

    Supplementary data
  • Fisher, S. E., & Tilot, A. K. (2019). Bridging senses: Novel insights from synaesthesia. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 374: 20190022. doi:10.1098/rstb.2019.0022.
  • Fisher, S. E., & Tilot, A. K. (Eds.). (2019). Bridging senses: Novel insights from synaesthesia [Special Issue]. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 374.
  • Fisher, S. E., Hatchwell, E., Chand, A., Ockenden, N., Monaco, A. P., & Craig, I. W. (1995). Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146. Genomics, 29(2), 496-502. doi:10.1006/geno.1995.9976.

    Abstract

    We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.
  • Fisher, S. E., Van Bakel, I., Lloyd, S. E., Pearce, S. H. S., Thakker, R. V., & Craig, I. W. (1995). Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics, 29, 598-606. doi:10.1006/geno.1995.9960.

    Abstract

    Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.
  • Fisher, S. E., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language [Review article]. Trends in Genetics, 25, 166-177. doi:10.1016/j.tig.2009.03.002.

    Abstract

    Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expression in different vertebrates facilitates the use of animal models to study ancestral pathways that have been recruited towards human speech and language. Intriguingly, reduced FoxP2 dosage yields abnormal synaptic plasticity and impaired motor-skill learning in mice, and disrupts vocal learning in songbirds. Converging data indicate that Foxp2 is important for modulating the plasticity of relevant neural circuits. This body of research represents the first functional genetic forays into neural mechanisms contributing to human spoken language.
  • Fisher, S. E. (2019). Human genetics: The evolving story of FOXP2. Current Biology, 29(2), R65-R67. doi:10.1016/j.cub.2018.11.047.

    Abstract

    FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.
  • Fisher, S. E. (2007). Molecular windows into speech and language disorders. Folia Phoniatrica et Logopaedica, 59, 130-140. doi:10.1159/000101771.

    Abstract

    Why do some children fail to acquire speech and language skills despite adequate environmental input and overtly normal neurological and anatomical development? It has been suspected for several decades, based on indirect evidence, that the human genome might hold some answers to this enigma. These suspicions have recently received dramatic confirmation with the discovery of specific genetic changes which appear sufficient to derail speech and language development. Indeed, researchers are already using information from genetic studies to aid early diagnosis and to shed light on the neural pathways that are perturbed in these inherited forms of speech and language disorder. Thus, we have entered an exciting era for dissecting the neural bases of human communication, one which takes genes and molecules as a starting point. In the current article I explain how this recent paradigm shift has occurred and describe the new vistas that have opened up. I demonstrate ways of bridging the gaps between molecules, neurons and the brain, which will provide a new understanding of the aetiology of speech and language impairments.
  • Fisher, S. E. (2019). Key issues and future directions: Genes and language. In P. Hagoort (Ed.), Human language: From genes and brain to behavior (pp. 609-620). Cambridge, MA: MIT Press.
  • Fisher, S. E., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P., & Pembrey, M. E. (1998). Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics, 18, 168 -170. doi:10.1038/ng0298-168.

    Abstract

    Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.
  • Fitz, H., & Chang, F. (2019). Language ERPs reflect learning through prediction error propagation. Cognitive Psychology, 111, 15-52. doi:10.1016/j.cogpsych.2019.03.002.

    Abstract

    Event-related potentials (ERPs) provide a window into how the brain is processing language. Here, we propose a theory that argues that ERPs such as the N400 and P600 arise as side effects of an error-based learning mechanism that explains linguistic adaptation and language learning. We instantiated this theory in a connectionist model that can simulate data from three studies on the N400 (amplitude modulation by expectancy, contextual constraint, and sentence position), five studies on the P600 (agreement, tense, word category, subcategorization and garden-path sentences), and a study on the semantic P600 in role reversal anomalies. Since ERPs are learning signals, this account explains adaptation of ERP amplitude to within-experiment frequency manipulations and the way ERP effects are shaped by word predictability in earlier sentences. Moreover, it predicts that ERPs can change over language development. The model provides an account of the sensitivity of ERPs to expectation mismatch, the relative timing of the N400 and P600, the semantic nature of the N400, the syntactic nature of the P600, and the fact that ERPs can change with experience. This approach suggests that comprehension ERPs are related to sentence production and language acquisition mechanisms
  • Fitz, H. (2009). Neural syntax. PhD Thesis, Universiteit van Amsterdam, Institute for Logic, Language, and Computation.

    Abstract

    Children learn their mother tongue spontaneously and effortlessly through communicative interaction with their environment; they do not have to be taught explicitly or learn how to learn first. The ambient language to which children are exposed, however, is highly variable and arguably deficient with regard to the learning target. Nonetheless, most normally developing children learn their native language rapidly and with ease. To explain this accomplishment, many theories of acquisition posit innate constraints on learning, or even a biological endowment for language which is specific to language. Usage-based theories, on the other hand, place more emphasis on the role of experience and domain-general learning mechanisms than on innate language-specific knowledge. But languages are lexically open and combinatorial in structure, so no amount of experience covers their expressivity. Usage-based theories therefore have to explain how children can generalize the properties of their linguistic input to an adult-like grammar. In this thesis I provide an explicit computational mechanism with which usage-based theories of language can be tested and evaluated. The focus of my work lies on complex syntax and the human ability to form sentences which express more than one proposition by means of relativization. This `capacity for recursion' is a hallmark of an adult grammar and, as some have argued, the human language faculty itself. The manuscript is organized as follows. In the second chapter, I give an overview of results that characterize the properties of neural networks as mathematical objects and review previous attempts at modelling the acquisition of complex syntax with such networks. The chapter introduces the conceptual landscape in which the current work is located. In the third chapter, I argue that the construction and use of meaning is essential in child language acquisition and adult processing. Neural network models need to incorporate this dimension of human linguistic behavior. I introduce the Dual-path model of sentence production and syntactic development which is able to represent semantics and learns from exposure to sentences paired with their meaning (cf. Chang et al. 2006). I explain the architecture of this model, motivate critical assumptions behind its design, and discuss existing research using this model. The fourth chapter describes and compares several extensions of the basic architecture to accommodate the processing of multi-clause utterances. These extensions are evaluated against computational desiderata, such as good learning and generalization performance and the parsimony of input representations. A single-best solution for encoding the meaning of complex sentences with restrictive relative clauses is identified, which forms the basis for all subsequent simulations. Chapter five analyzes the learning dynamics in more detail. I first examine the model's behavior for different relative clause types. Syntactic alternations prove to be particularly difficult to learn because they complicate the meaning-to-form mapping the model has to acquire. In the second part, I probe the internal representations the model has developed during learning. It is argued that the model acquires the argument structure of the construction types in its input language and represents the hierarchical organization of distinct multi-clause utterances. The juice of this thesis is contained in chapters six to eight. In chapter six, I test the Dual-path model's generalization capacities in a variety of tasks. I show that its syntactic representations are sufficiently transparent to allow structural generalization to novel complex utterances. Semantic similarities between novel and familiar sentence types play a critical role in this task. The Dual-path model also has a capacity for generalizing familiar words to novel slots in novel constructions (strong semantic systematicity). Moreover, I identify learning conditions under which the model displays recursive productivity. It is argued that the model's behavior is consistent with human behavior in that production accuracy degrades with depth of embedding, and right-branching is learned faster than center-embedding recursion. In chapter seven, I address the issue of learning complex polar interrogatives in the absence of positive exemplars in the input. I show that the Dual-path model can acquire the syntax of these questions from simpler and similar structures which are warranted in a child's linguistic environment. The model's errors closely match children's errors, and it is suggested that children might not require an innate learning bias to acquire auxiliary fronting. Since the model does not implement a traditional kind of language-specific universal grammar, these results are relevant to the poverty of the stimulus debate. English relative clause constructions give rise to similar performance orderings in adult processing and child language acquisition. This pattern matches the typological universal called the noun phrase accessibility hierarchy. I propose an input-based explanation of this data in chapter eight. The Dual-path model displays this ordering in syntactic development when exposed to plausible input distributions. But it is possible to manipulate and completely remove the ordering by varying properties of the input from which the model learns. This indicates, I argue, that patterns of interference and facilitation among input structures can explain the hierarchy when all structures are simultaneously learned and represented over a single set of connection weights. Finally, I draw conclusions from this work, address some unanswered questions, and give a brief outlook on how this research might be continued.

    Additional information

    http://dare.uva.nl/record/328271
  • Fitz, H., & Chang, F. (2009). Syntactic generalization in a connectionist model of sentence production. In J. Mayor, N. Ruh, & K. Plunkett (Eds.), Connectionist models of behaviour and cognition II: Proceedings of the 11th Neural Computation and Psychology Workshop (pp. 289-300). River Edge, NJ: World Scientific Publishing.

    Abstract

    We present a neural-symbolic learning model of sentence production which displays strong semantic systematicity and recursive productivity. Using this model, we provide evidence for the data-driven learnability of complex yes/no- questions.
  • FitzPatrick, I. (2007). Effects of sentence context in L2 natural speech comprehension. Nijmegen CNS, 2, 43-56.

    Abstract

    Electrophysiological studies consistently find N400 effects of semantic incongruity in non-native written language comprehension. Typically these N400 effects are later than N400 effects in native comprehension, suggesting that semantic processing in one’s second language (L2) may be delayed compared to one’s first language (L1). In this study we were firstly interested in replicating the semantic incongruity effect using natural auditory speech, which poses strong demands on the speed of processing. Secondly, we wished to investigate whether a possible delay in semantic processing might be due to bilinguals accessing lexical items from both their L1 and L2 (a more extensive lexical search). We recorded EEG from 30 Dutch-English bilinguals who listened to English sentences � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � ��� � � in which the sentence-final word was: (1) semantically fitting, (2) semantically incongruent, (3) initially congruent: semantically incongruent, but sharing initial phonemes with the most probable sentence completion within the L2, (4) semantically incongruent, but sharing initial phonemes with the L1 translation equivalent of the most probable sentence completion. We found an N400 effect in each of the semantically incongruent conditions. This N400 effect was significantly delayed to L2 words that were initially congruent with the sentence context. We found no effect of initial overlap with L1 translation equivalents. Taken together these findings firstly demonstrate that non-native listeners are sensitive to semantic incongruity in natural speech, secondly indicate that semantic integration in non-native listening can start on the basis of word initial phonemes, and finally suggest that during L2 sentence processing listeners do not access the L1 lexicon.
  • Flecken, M., & Schmiedtova, B. (2007). The expression of simultaneity in L1 Dutch. Toegepaste Taalwetenschap in Artikelen, 77(1), 67-78.
  • Floyd, S. (2007). Changing times and local terms on the Rio Negro, Brazil: Amazonian ways of depolarizing epistemology, chronology and cultural Change. Latin American and Caribbean Ethnic studies, 2(2), 111-140. doi:10.1080/17442220701489548.

    Abstract

    Partway along the vast waterways of Brazil's middle Rio Negro, upstream from urban Manaus and downstream from the ethnographically famous Northwest Amazon region, is the town of Castanheiro, whose inhabitants skillfully negotiate a space between the polar extremes of 'traditional' and 'acculturated.' This paper takes an ethnographic look at the non-polarizing terms that these rural Amazonian people use for talking about cultural change. While popular and academic discourses alike have often framed cultural change in the Amazon as a linear process, Amazonian discourse provides resources for describing change as situated in shifting fields of knowledge of the social and physical environments, better capturing its non-linear complexity and ambiguity.
  • Floyd, S. (2009). Nexos históricos, gramaticales y culturales de los números en cha'palaa [Historical, grammatical and cultural connections of Cha'palaa numerals]. In Proceedings of the Conference on Indigenous Languages of Latin America (CILLA) -IV.

    Abstract

    Los idiomas sudamericanas tienen una diversidad de sistemas numéricos, desde sistemas con solamente dos o tres términos en algunos idiomas amazónicos hasta sistemas con numerales extendiendo a miles. Una mirada al sistema del idioma cha’palaa de Ecuador demuestra rasgos de base-2, base-5, base-10 y base-20, ligados a diferentes etapas de cambio, desarrollo y contacto lingüístico. Conocer estas etapas nos permite proponer algunas correlaciones con lo que conocemos de la historia de contactos culturales en la región. The South American languages have diverse types of numeral systems, from systems of just two or three terms in some Amazonian languages to systems extending into the thousands. A look a the system of the Cha'palaa language of Ecuador demonstrates base-2, base-5, base-10 and base-20 features, linked to different stages of change, development and language contact. Learning about these stages permits up to propose some correlations between them and what we know about the history of cultural contact in the region.
  • Foley, W., & Van Valin Jr., R. D. (2009). Functional syntax and universal grammar (Repr.). Cambridge University Press.

    Abstract

    The key argument of this book, originally published in 1984, is that when human beings communicate with each other by means of a natural language they typically do not do so in simple sentences but rather in connected discourse - complex expressions made up of a number of clauses linked together in various ways. A necessary precondition for intelligible discourse is the speaker’s ability to signal the temporal relations between the events that are being discussed and to refer to the participants in those events in such a way that it is clear who is being talked about. A great deal of the grammatical machinery in a language is devoted to this task, and Functional Syntax and Universal Grammar explores how different grammatical systems accomplish it. This book is an important attempt to integrate the study of linguistic form with the study of language use and meaning. It will be of particular interest to field linguists and those concerned with typology and language universals, and also to anthropologists involved in the study of language function.
  • Folia, V., Forkstam, C., Hagoort, P., & Petersson, K. M. (2009). Language comprehension: The interplay between form and content. In N. Taatgen, & H. van Rijn (Eds.), Proceedings of the 31th Annual Conference of the Cognitive Science Society (pp. 1686-1691). Austin, TX: Cognitive Science Society.

    Abstract

    In a 2x2 event-related FMRI study we find support for the idea that the inferior frontal cortex, centered on Broca’s region and its homologue, is involved in constructive unification operations during the structure-building process in parsing for comprehension. Tentatively, we provide evidence for a role of the dorsolateral prefrontal cortex centered on BA 9/46 in the control component of the language system. Finally, the left temporo-parietal cortex, in the vicinity of Wernicke’s region, supports the interaction between the syntax of gender agreement and sentence-level semantics.
  • Forkstam, C., Jansson, A., Ingvar, M., & Petersson, K. M. (2009). Modality transfer of acquired structural regularities: A preference for an acoustic route. In N. Taatgen, & H. Van Rijn (Eds.), Proceedings of the 31th Annual Conference of the Cognitive Science Society. Austin, TX: Cognitive Science Society.

    Abstract

    Human implicit learning can be investigated with implicit artificial grammar learning, a simple model for aspects of natural language acquisition. In this paper we investigate the remaining effect of modality transfer in syntactic classification of an acquired grammatical sequence structure after implicit grammar acquisition. Participants practiced either on acoustically presented syllable sequences or visually presented consonant letter sequences. During classification we independently manipulated the statistical frequency-based and rule-based characteristics of the classification stimuli. Participants performed reliably above chance on the within modality classification task although more so for those working on syllable sequence acquisition. These subjects were also the only group that kept a significant performance level in transfer classification. We speculate that this finding is of particular relevance in consideration of an ecological validity in the input signal in the use of artificial grammar learning and in language learning paradigms at large.
  • Francks, C. (2009). 13 - LRRTM1: A maternally suppressed genetic effect on handedness and schizophrenia. In I. E. C. Sommer, & R. S. Kahn (Eds.), Cerebral lateralization and psychosis (pp. 181-196). Cambridge: Cambridge University Press.

    Abstract

    The molecular, developmental, and evolutionary bases of human brain asymmetry are almost completely unknown. Genetic linkage and association mapping have pin-pointed a gene called LRRTM1 (leucine-rich repeat transmembrane neuronal 1) that may contribute to variability in human handedness. Here I describe how LRRTM1's involvement in handedness was discovered, and also the latest knowledge of its functions in brain development and disease. The association of LRRTM1 with handedness was derived entirely from the paternally inherited gene, and follow-up analysis of gene expression confirmed that LRRTM1 is one of a small number of genes that are imprinted in the human genome, for which the maternally inherited copy is suppressed. The same variation at LRRTM1 that was associated paternally with mixed-/left-handedness was also over-transmitted paternally to schizophrenic patients in a large family study.
    LRRTM1 is expressed in specific regions of the developing and adult forebrain by post-mitotic neurons, and the protein may be involved in axonal trafficking. Thus LRRTM1 has a probable role in neurodevelopment, and its association with handedness suggests that one of its functions may be in establishing or consolidating human brain asymmetry.
    LRRTM1 is the first gene for which allelic variation has been associated with human handedness. The genetic data also suggest indirectly that the epigenetic regulation of this gene may yet prove more important than DNA sequence variation for influencing brain development and disease.
    Intriguingly, the parent-of-origin activity of LRRTM1 suggests that men and women have had conflicting interests in relation to the outcome of lateralized brain development in their offspring.
  • Francks, C. (2019). In search of the biological roots of typical and atypical human brain asymmetry. Physics of Life Reviews, 30, 22-24. doi:10.1016/j.plrev.2019.07.004.
  • Francks, C., Maegawa, S., Laurén, J., Abrahams, B. S., Velayos-Baeza, A., Medland, S. E., Colella, S., Groszer, M., McAuley, E. Z., Caffrey, T. M., Timmusk, T., Pruunsild, P., Koppel, I., Lind, P. A., Matsumoto-Itaba, N., Nicod, J., Xiong, L., Joober, R., Enard, W., Krinsky, B. and 22 moreFrancks, C., Maegawa, S., Laurén, J., Abrahams, B. S., Velayos-Baeza, A., Medland, S. E., Colella, S., Groszer, M., McAuley, E. Z., Caffrey, T. M., Timmusk, T., Pruunsild, P., Koppel, I., Lind, P. A., Matsumoto-Itaba, N., Nicod, J., Xiong, L., Joober, R., Enard, W., Krinsky, B., Nanba, E., Richardson, A. J., Riley, B. P., Martin, N. G., Strittmatter, S. M., Möller, H.-J., Rujescu, D., St Clair, D., Muglia, P., Roos, J. L., Fisher, S. E., Wade-Martins, R., Rouleau, G. A., Stein, J. F., Karayiorgou, M., Geschwind, D. H., Ragoussis, J., Kendler, K. S., Airaksinen, M. S., Oshimura, M., DeLisi, L. E., & Monaco, A. P. (2007). LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry, 12, 1129-1139. doi:10.1038/sj.mp.4002053.

    Abstract

    Left-right asymmetrical brain function underlies much of human cognition, behavior and emotion. Abnormalities of cerebral asymmetry are associated with schizophrenia and other neuropsychiatric disorders. The molecular, developmental and evolutionary origins of human brain asymmetry are unknown. We found significant association of a haplotype upstream of the gene LRRTM1 (Leucine-rich repeat transmembrane neuronal 1) with a quantitative measure of human handedness in a set of dyslexic siblings, when the haplotype was inherited paternally (P=0.00002). While we were unable to find this effect in an epidemiological set of twin-based sibships, we did find that the same haplotype is overtransmitted paternally to individuals with schizophrenia/schizoaffective disorder in a study of 1002 affected families (P=0.0014). We then found direct confirmatory evidence that LRRTM1 is an imprinted gene in humans that shows a variable pattern of maternal downregulation. We also showed that LRRTM1 is expressed during the development of specific forebrain structures, and thus could influence neuronal differentiation and connectivity. This is the first potential genetic influence on human handedness to be identified, and the first putative genetic effect on variability in human brain asymmetry. LRRTM1 is a candidate gene for involvement in several common neurodevelopmental disorders, and may have played a role in human cognitive and behavioral evolution.
  • Francks, C. (2019). The genetic bases of brain lateralization. In P. Hagoort (Ed.), Human language: From genes and brain to behavior (pp. 595-608). Cambridge, MA: MIT Press.
  • Francks, C. (2009). Understanding the genetics of behavioural and psychiatric traits will only be achieved through a realistic assessment of their complexity. Laterality: Asymmetries of Body, Brain and Cognition, 14(1), 11-16. doi:10.1080/13576500802536439.

    Abstract

    Francks et al. (2007) performed a recent study in which the first putative genetic effect on human handedness was identified (the imprinted locus LRRTM1 on human chromosome 2). In this issue of Laterality, Tim Crow and colleagues present a critique of that study. The present paper presents a personal response to that critique which argues that Francks et al. (2007) published a substantial body of evidence implicating LRRTM1 in handedness and schizophrenia. Progress will now be achieved by others trying to validate, refute, or extend those findings, rather than by further armchair discussion.
  • Frank, S. L., Monaghan, P., & Tsoukala, C. (2019). Neural network models of language acquisition and processing. In P. Hagoort (Ed.), Human language: From genes and brain to behavior (pp. 277-293). Cambridge, MA: MIT Press.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2007). Coherence-driven resolution of referential ambiguity: A computational model. Memory & Cognition, 35(6), 1307-1322.

    Abstract

    We present a computational model that provides a unified account of inference, coherence, and disambiguation. It simulates how the build-up of coherence in text leads to the knowledge-based resolution of referential ambiguity. Possible interpretations of an ambiguity are represented by centers of gravity in a high-dimensional space. The unresolved ambiguity forms a vector in the same space. This vector is attracted by the centers of gravity, while also being affected by context information and world knowledge. When the vector reaches one of the centers of gravity, the ambiguity is resolved to the corresponding interpretation. The model accounts for reading time and error rate data from experiments on ambiguous pronoun resolution and explains the effects of context informativeness, anaphor type, and processing depth. It shows how implicit causality can have an early effect during reading. A novel prediction is that ambiguities can remain unresolved if there is insufficient disambiguating information.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2007). Modeling multiple levels of text presentation. In F. Schmalhofer, & C. A. Perfetti (Eds.), Higher level language processes in the brain: Inference and comprehension processes (pp. 133-157). Mahwah, NJ: Erlbaum.
  • Franken, M. K., Acheson, D. J., McQueen, J. M., Hagoort, P., & Eisner, F. (2019). Consistency influences altered auditory feedback processing. Quarterly Journal of Experimental Psychology, 72(10), 2371-2379. doi:10.1177/1747021819838939.

    Abstract

    Previous research on the effect of perturbed auditory feedback in speech production has focused on two types of responses. In the short term, speakers generate compensatory motor commands in response to unexpected perturbations. In the longer term, speakers adapt feedforward motor programmes in response to feedback perturbations, to avoid future errors. The current study investigated the relation between these two types of responses to altered auditory feedback. Specifically, it was hypothesised that consistency in previous feedback perturbations would influence whether speakers adapt their feedforward motor programmes. In an altered auditory feedback paradigm, formant perturbations were applied either across all trials (the consistent condition) or only to some trials, whereas the others remained unperturbed (the inconsistent condition). The results showed that speakers’ responses were affected by feedback consistency, with stronger speech changes in the consistent condition compared with the inconsistent condition. Current models of speech-motor control can explain this consistency effect. However, the data also suggest that compensation and adaptation are distinct processes, which are not in line with all current models.
  • Frega, M., Linda, K., Keller, J. M., Gümüş-Akay, G., Mossink, B., Van Rhijn, J. R., Negwer, M., Klein Gunnewiek, T., Foreman, K., Kompier, N., Schoenmaker, C., Van den Akker, W., Van der Werf, I., Oudakker, A., Zhou, H., Kleefstra, T., Schubert, D., Van Bokhoven, H., & Nadif Kasri, N. (2019). Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling. Nature Communications, 10: 4928. doi:10.1038/s41467-019-12947-3.

    Abstract

    Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. In mice EHMT1 deficiency leads to similar neuronal network impairments with increased NMDAR function. Finally, we rescue the KS patient-derived neuronal network phenotypes by pharmacological inhibition of NMDARs. Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.

    Additional information

    supplementary information
  • French, C. A., Vinueza Veloz, M. F., Zhou, K., Peter, S., Fisher, S. E., Costa, R. M., & De Zeeuw, C. I. (2019). Differential effects of Foxp2 disruption in distinct motor circuits. Molecular Psychiatry, 24, 447-462. doi:10.1038/s41380-018-0199-x.

    Abstract

    Disruptions of the FOXP2 gene cause a speech and language disorder involving difficulties in sequencing orofacial movements. FOXP2 is expressed in cortico-striatal and cortico-cerebellar circuits important for fine motor skills, and affected individuals show abnormalities in these brain regions. We selectively disrupted Foxp2 in the cerebellar Purkinje cells, striatum or cortex of mice and assessed the effects on skilled motor behaviour using an operant lever-pressing task. Foxp2 loss in each region impacted behaviour differently, with striatal and Purkinje cell disruptions affecting the variability and the speed of lever-press sequences, respectively. Mice lacking Foxp2 in Purkinje cells showed a prominent phenotype involving slowed lever pressing as well as deficits in skilled locomotion. In vivo recordings from Purkinje cells uncovered an increased simple spike firing rate and decreased modulation of firing during limb movements. This was caused by increased intrinsic excitability rather than changes in excitatory or inhibitory inputs. Our findings show that Foxp2 can modulate different aspects of motor behaviour in distinct brain regions, and uncover an unknown role for Foxp2 in the modulation of Purkinje cell activity that severely impacts skilled movements.
  • French, C. A., Groszer, M., Preece, C., Coupe, A.-M., Rajewsky, K., & Fisher, S. E. (2007). Generation of mice with a conditional Foxp2 null allele. Genesis, 45(7), 440-446. doi:10.1002/dvg.20305.

    Abstract

    Disruptions of the human FOXP2 gene cause problems with articulation of complex speech sounds, accompanied by impairment in many aspects of language ability. The FOXP2/Foxp2 transcription factor is highly similar in humans and mice, and shows a complex conserved expression pattern, with high levels in neuronal subpopulations of the cortex, striatum, thalamus, and cerebellum. In the present study we generated mice in which loxP sites flank exons 12-14 of Foxp2; these exons encode the DNA-binding motif, a key functional domain. We demonstrate that early global Cre-mediated recombination yields a null allele, as shown by loss of the loxP-flanked exons at the RNA level and an absence of Foxp2 protein. Homozygous null mice display severe motor impairment, cerebellar abnormalities and early postnatal lethality, consistent with other Foxp2 mutants. When crossed to transgenic lines expressing Cre protein in a spatially and/or temporally controlled manner, these conditional mice will provide new insights into the contributions of Foxp2 to distinct neural circuits, and allow dissection of roles during development and in the mature brain.
  • Friedlaender, J., Hunley, K., Dunn, M., Terrill, A., Lindström, E., Reesink, G., & Friedlaender, F. (2009). Linguistics more robust than genetics [Letter to the editor]. Science, 324, 464-465. doi:10.1126/science.324_464c.
  • Frost, R. L. A., Isbilen, E. S., Christiansen, M. H., & Monaghan, P. (2019). Testing the limits of non-adjacent dependency learning: Statistical segmentation and generalisation across domains. In A. K. Goel, C. M. Seifert, & C. Freksa (Eds.), Proceedings of the 41st Annual Meeting of the Cognitive Science Society (CogSci 2019) (pp. 1787-1793). Montreal, QB: Cognitive Science Society.

    Abstract

    Achieving linguistic proficiency requires identifying words from speech, and discovering the constraints that govern the way those words are used. In a recent study of non-adjacent dependency learning, Frost and Monaghan (2016) demonstrated that learners may perform these tasks together, using similar statistical processes - contrary to prior suggestions. However, in their study, non-adjacent dependencies were marked by phonological cues (plosive-continuant-plosive structure), which may have influenced learning. Here, we test the necessity of these cues by comparing learning across three conditions; fixed phonology, which contains these cues, varied phonology, which omits them, and shapes, which uses visual shape sequences to assess the generality of statistical processing for these tasks. Participants segmented the sequences and generalized the structure in both auditory conditions, but learning was best when phonological cues were present. Learning was around chance on both tasks for the visual shapes group, indicating statistical processing may critically differ across domains.
  • Frost, R. L. A., Monaghan, P., & Christiansen, M. H. (2019). Mark my words: High frequency marker words impact early stages of language learning. Journal of Experimental Psychology: Learning, Memory, and Cognition, 45(10), 1883-1898. doi:10.1037/xlm0000683.

    Abstract

    High frequency words have been suggested to benefit both speech segmentation and grammatical categorization of the words around them. Despite utilizing similar information, these tasks are usually investigated separately in studies examining learning. We determined whether including high frequency words in continuous speech could support categorization when words are being segmented for the first time. We familiarized learners with continuous artificial speech comprising repetitions of target words, which were preceded by high-frequency marker words. Crucially, marker words distinguished targets into 2 distributionally defined categories. We measured learning with segmentation and categorization tests and compared performance against a control group that heard the artificial speech without these marker words (i.e., just the targets, with no cues for categorization). Participants segmented the target words from speech in both conditions, but critically when the marker words were present, they influenced acquisition of word-referent mappings in a subsequent transfer task, with participants demonstrating better early learning for mappings that were consistent (rather than inconsistent) with the distributional categories. We propose that high-frequency words may assist early grammatical categorization, while speech segmentation is still being learned.

    Additional information

    Supplemental Material
  • Furman, R., & Ozyurek, A. (2007). Development of interactional discourse markers: Insights from Turkish children's and adults' narratives. Journal of Pragmatics, 39(10), 1742-1757. doi:10.1016/j.pragma.2007.01.008.

    Abstract

    Discourse markers (DMs) are linguistic elements that index different relations and coherence between units of talk (Schiffrin, Deborah, 1987. Discourse Markers. Cambridge University Press, Cambridge). Most research on the development of these forms has focused on conversations rather than narratives and furthermore has not directly compared children's use of DMs to adult usage. This study examines the development of three DMs (şey ‘uuhh’, yani ‘I mean’, işte ‘y’know’) that mark interactional levels of discourse in oral Turkish narratives in 60 Turkish children (3-, 5- and 9-year-olds) and 20 Turkish-speaking adults. The results show that the frequency and functions of DMs change with age. Children learn şey, which mainly marks exchange level structures, earliest. However, yani and işte have multi-functions such as marking both information states and participation frameworks and are consequently learned later. Children also use DMs with different functions than adults. Overall, the results show that learning to use interactional DMs in narratives is complex and goes beyond age 9, especially for multi-functional DMs that index an interplay of discourse coherence at different levels.
  • Furuyama, N., & Sekine, K. (2007). Forgetful or strategic? The mystery of the systematic avoidance of reference in the cartoon story nsarrative. In S. D. Duncan, J. Cassel, & E. T. Levy (Eds.), Gesture and the Dynamic Dimension of Language: Essays in honor of David McNeill (pp. 75-81). Amsterdam: John Benjamins Publishing Company.
  • Galbiati, A., Verga, L., Giora, E., Zucconi, M., & Ferini-Strambi, L. (2019). The risk of neurodegeneration in REM sleep behavior disorder: A systematic review and meta-analysis of longitudinal studies. Sleep Medicine Reviews, 43, 37-46. doi:10.1016/j.smrv.2018.09.008.

    Abstract

    Several studies report an association between REM Sleep Behavior Disorder (RBD) and neurodegenerative diseases, in particular synucleinopathies. Interestingly, the onset of RBD precedes the development of neurodegeneration by several years. This review and meta-analysis aims to establish the rate of conversion of RBD into neurodegenerative diseases. Longitudinal studies were searched from the PubMed, Web of Science, and SCOPUS databases. Using random-effect modeling, we performed a meta-analysis on the rate of RBD conversions into neurodegeneration. Furthermore, we fitted a Kaplan-Meier analysis and compared the differences between survival curves of different diseases with log-rank tests. The risk for developing neurodegenerative diseases was 33.5% at five years follow-up, 82.4% at 10.5 years and 96.6% at 14 years. The average conversion rate was 31.95% after a mean duration of follow-up of 4.75 ± 2.43 years. The majority of RBD patients converted to Parkinson's Disease (43%), followed by Dementia with Lewy Bodies (25%). The estimated risk for RBD patients to develop a neurodegenerative disease over a long-term follow-up is more than 90%. Future studies should include control group for the evaluation of REM sleep without atonia as marker for neurodegeneration also in non-clinical population and target RBD as precursor of neurodegeneration to develop protective trials.
  • Galke, L., Vagliano, I., & Scherp, A. (2019). Can graph neural networks go „online“? An analysis of pretraining and inference. In Proceedings of the Representation Learning on Graphs and Manifolds: ICLR2019 Workshop.

    Abstract

    Large-scale graph data in real-world applications is often not static but dynamic,
    i. e., new nodes and edges appear over time. Current graph convolution approaches
    are promising, especially, when all the graph’s nodes and edges are available dur-
    ing training. When unseen nodes and edges are inserted after training, it is not
    yet evaluated whether up-training or re-training from scratch is preferable. We
    construct an experimental setup, in which we insert previously unseen nodes and
    edges after training and conduct a limited amount of inference epochs. In this
    setup, we compare adapting pretrained graph neural networks against retraining
    from scratch. Our results show that pretrained models yield high accuracy scores
    on the unseen nodes and that pretraining is preferable over retraining from scratch.
    Our experiments represent a first step to evaluate and develop truly online variants
    of graph neural networks.
  • Galke, L., Melnychuk, T., Seidlmayer, E., Trog, S., Foerstner, K., Schultz, C., & Tochtermann, K. (2019). Inductive learning of concept representations from library-scale bibliographic corpora. In K. David, K. Geihs, M. Lange, & G. Stumme (Eds.), Informatik 2019: 50 Jahre Gesellschaft für Informatik - Informatik für Gesellschaft (pp. 219-232). Bonn: Gesellschaft für Informatik e.V. doi:10.18420/inf2019_26.
  • Ganushchak, L. Y., & Schiller, N. O. (2009). Speaking in one’s second language under time pressure: An ERP study on verbal self-monitoring in German-Dutch bilinguals. Psychophysiology, 46, 410-419. doi:10.1111/j.1469-8986.2008.00774.x.

    Abstract

    This study addresses how verbal self-monitoring and the Error-Related Negativity (ERN) are affected by time pressure
    when a task is performed in a second language as opposed to performance in the native language. German–Dutch
    bilinguals were required to perform a phoneme-monitoring task in Dutch with and without a time pressure manipulation.
    We obtained an ERN following verbal errors that showed an atypical increase in amplitude under time
    pressure. This finding is taken to suggest that under time pressure participants had more interference from their native
    language, which in turn led to a greater response conflict and thus enhancement of the amplitude of the ERN. This
    result demonstrates once more that the ERN is sensitive to psycholinguistic manipulations and suggests that the
    functioning of the verbal self-monitoring systemduring speaking is comparable to other performance monitoring, such
    as action monitoring.
  • Gao, Y., Zheng, L., Liu, X., Nichols, E. S., Zhang, M., Shang, L., Ding, G., Meng, Z., & Liu, L. (2019). First and second language reading difficulty among Chinese–English bilingual children: The prevalence and influences from demographic characteristics. Frontiers in Psychology, 10: 2544. doi:10.3389/fpsyg.2019.02544.

    Abstract

    Learning to read a second language (L2) can pose a great challenge for children who have already been struggling to read in their first language (L1). Moreover, it is not clear whether, to what extent, and under what circumstances L1 reading difficulty increases the risk of L2 reading difficulty. This study investigated Chinese (L1) and English (L2) reading skills in a large representative sample of 1,824 Chinese–English bilingual children in Grades 4 and 5 from both urban and rural schools in Beijing. We examined the prevalence of reading difficulty in Chinese only (poor Chinese readers, PC), English only (poor English readers, PE), and both Chinese and English (poor bilingual readers, PB) and calculated the co-occurrence, that is, the chances of becoming a poor reader in English given that the child was already a poor reader in Chinese. We then conducted a multinomial logistic regression analysis and compared the prevalence of PC, PE, and PB between children in Grade 4 versus Grade 5, in urban versus rural areas, and in boys versus girls. Results showed that compared to girls, boys demonstrated significantly higher risk of PC, PE, and PB. Meanwhile, compared to the 5th graders, the 4th graders demonstrated significantly higher risk of PC and PB. In addition, children enrolled in the urban schools were more likely to become better second language readers, thus leading to a concerning rural–urban gap in the prevalence of L2 reading difficulty. Finally, among these Chinese–English bilingual children, regardless of sex and school location, poor reading skill in Chinese significantly increased the risk of also being a poor English reader, with a considerable and stable co-occurrence of approximately 36%. In sum, this study suggests that despite striking differences between alphabetic and logographic writing systems, L1 reading difficulty still significantly increases the risk of L2 reading difficulty. This indicates the shared meta-linguistic skills in reading different writing systems and the importance of understanding the universality and the interdependent relationship of reading between different writing systems. Furthermore, the male disadvantage (in both L1 and L2) and the urban–rural gap (in L2) found in the prevalence of reading difficulty calls for special attention to disadvantaged populations in educational practice.
  • Gao, X., Dera, J., Nijhoff, A. D., & Willems, R. M. (2019). Is less readable liked better? The case of font readability in poetry appreciation. PLoS One, 14(12): e0225757. doi:10.1371/journal.pone.0225757.

    Abstract

    Previous research shows conflicting findings for the effect of font readability on comprehension and memory for language. It has been found that—perhaps counterintuitively–a hard to read font can be beneficial for language comprehension, especially for difficult language. Here we test how font readability influences the subjective experience of poetry reading. In three experiments we tested the influence of poem difficulty and font readability on the subjective experience of poems. We specifically predicted that font readability would have opposite effects on the subjective experience of easy versus difficult poems. Participants read poems which could be more or less difficult in terms of conceptual or structural aspects, and which were presented in a font that was either easy or more difficult to read. Participants read existing poems and subsequently rated their subjective experience (measured through four dependent variables: overall liking, perceived flow of the poem, perceived topic clarity, and perceived structure). In line with previous literature we observed a Poem Difficulty x Font Readability interaction effect for subjective measures of poetry reading. We found that participants rated easy poems as nicer when presented in an easy to read font, as compared to when presented in a hard to read font. Despite the presence of the interaction effect, we did not observe the predicted opposite effect for more difficult poems. We conclude that font readability can influence reading of easy and more difficult poems differentially, with strongest effects for easy poems.

    Additional information

    https://osf.io/jwcqt/
  • Garcia, N., Lenkiewicz, P., Freire, M., & Monteiro, P. (2009). A new architecture for optical burst switching networks based on cooperative control. In Proceeding of the 8th IEEE International Symposium on Network Computing and Applications (IEEE NCA09) (pp. 310-313).

    Abstract

    This paper presents a new architecture for optical burst switched networks where the control plane of the network functions in a cooperative manner. Each node interprets the data conveyed by the control packet and forwards it to the next nodes, making the control plane of the network distribute the relevant information to all the nodes in the network. A cooperation transmission tree is used, thus allowing all the nodes to store the information related to the traffic management in the network, and enabling better network resource planning at each node. A model of this network architecture is proposed, and its performance is evaluated.
  • Garcia, R., Roeser, J., & Höhle, B. (2019). Thematic role assignment in the L1 acquisition of Tagalog: Use of word order and morphosyntactic markers. Language Acquisition, 26(3), 235-261. doi:10.1080/10489223.2018.1525613.

    Abstract

    It is a common finding across languages that young children have problems in understanding patient-initial sentences. We used Tagalog, a verb-initial language with a reliable voice-marking system and highly frequent patient voice constructions, to test the predictions of several accounts that have been proposed to explain this difficulty: the frequency account, the Competition Model, and the incremental processing account. Study 1 presents an analysis of Tagalog child-directed speech, which showed that the dominant argument order is agent-before-patient and that morphosyntactic markers are highly valid cues to thematic role assignment. In Study 2, we used a combined self-paced listening and picture verification task to test how Tagalog-speaking adults and 5- and 7-year-old children process reversible transitive sentences. Results showed that adults performed well in all conditions, while children’s accuracy and listening times for the first noun phrase indicated more difficulty in interpreting patient-initial sentences in the agent voice compared to the patient voice. The patient voice advantage is partly explained by both the frequency account and incremental processing account.
  • Garrido, L., Eisner, F., McGettigan, C., Stewart, L., Sauter, D., Hanley, J. R., Schweinberger, S. R., Warren, J. D., & Duchaine, B. (2009). Developmental phonagnosia: A selective deficit of vocal identity recognition. Neuropsychologia, 47(1), 123-131. doi:10.1016/j.neuropsychologia.2008.08.003.

    Abstract

    Phonagnosia, the inability to recognize familiar voices, has been studied in brain-damaged patients but no cases due to developmental problems have been reported. Here we describe the case of KH, a 60-year-old active professional woman who reports that she has always experienced severe voice recognition difficulties. Her hearing abilities are normal, and an MRI scan showed no evidence of brain damage in regions associated with voice or auditory perception. To better understand her condition and to assess models of voice and high-level auditory processing, we tested KH on behavioural tasks measuring voice recognition, recognition of vocal emotions, face recognition, speech perception, and processing of environmental sounds and music. KH was impaired on tasks requiring the recognition of famous voices and the learning and recognition of new voices. In contrast, she performed well on nearly all other tasks. Her case is the first report of developmental phonagnosia, and the results suggest that the recognition of a speaker’s vocal identity depends on separable mechanisms from those used to recognize other information from the voice or non-vocal auditory stimuli.
  • Gazendam, L., Wartena, C., Malaise, V., Schreiber, G., De Jong, A., & Brugman, H. (2009). Automatic annotation suggestions for audiovisual archives: Evaluation aspects. Interdisciplinary Science Reviews, 34(2/3), 172-188. doi:10.1179/174327909X441090.

    Abstract

    In the context of large and ever growing archives, generating annotation suggestions automatically from textual resources related to the documents to be archived is an interesting option in theory. It could save a lot of work in the time consuming and expensive task of manual annotation and it could help cataloguers attain a higher inter-annotator agreement. However, some questions arise in practice: what is the quality of the automatically produced annotations? How do they compare with manual annotations and with the requirements for annotation that were defined in the archive? If different from the manual annotations, are the automatic annotations wrong? In the CHOICE project, partially hosted at the Netherlands Institute for Sound and Vision, the Dutch public archive for audiovisual broadcasts, we automatically generate annotation suggestions for cataloguers. In this paper, we define three types of evaluation of these annotation suggestions: (1) a classic and strict evaluation measure expressing the overlap between automatically generated keywords and the manual annotations, (2) a loosened evaluation measure for which semantically very similar annotations are also considered as relevant matches, and (3) an in-use evaluation of the usefulness of manual versus automatic annotations in the context of serendipitous browsing. During serendipitous browsing, the annotations (manual or automatic) are used to retrieve and visualize semantically related documents.
  • Gehrig, J., Michalareas, G., Forster, M.-T., Lei, J., Hok, P., Laufs, H., Senft, C., Seifert, V., Schoffelen, J.-M., Hanslmayr, H., & Kell, C. A. (2019). Low-frequency oscillations code speech during verbal working memory. The Journal of Neuroscience, 39(33), 6498-6512. doi:10.1523/JNEUROSCI.0018-19.2019.

    Abstract

    The way the human brain represents speech in memory is still unknown. An obvious characteristic of speech is its evolvement over time.
    During speech processing, neural oscillations are modulated by the temporal properties of the acoustic speech signal, but also acquired
    knowledge on the temporal structure of language influences speech perception-related brain activity. This suggests that speech could be
    represented in the temporal domain, a form of representation that the brain also uses to encode autobiographic memories. Empirical
    evidence for such a memory code is lacking. We investigated the nature of speech memory representations using direct cortical recordings
    in the left perisylvian cortex during delayed sentence reproduction in female and male patients undergoing awake tumor surgery.
    Our results reveal that the brain endogenously represents speech in the temporal domain. Temporal pattern similarity analyses revealed
    that the phase of frontotemporal low-frequency oscillations, primarily in the beta range, represents sentence identity in working memory.
    The positive relationship between beta power during working memory and task performance suggests that working memory
    representations benefit from increased phase separation.
  • Gentner, D., & Bowerman, M. (2009). Why some spatial semantic categories are harder to learn than others: The typological prevalence hypothesis. In J. Guo, E. Lieven, N. Budwig, S. Ervin-Tripp, K. Nakamura, & S. Ozcaliskan (Eds.), Crosslinguistic approaches to the psychology of language: Research in the tradition of Dan Isaac Slobin (pp. 465-480). New York: Psychology Press.
  • Ghatan, P. H., Hsieh, J. C., Petersson, K. M., Stone-Elander, S., & Ingvar, M. (1998). Coexistence of attention-based facilitation and inhibition in the human cortex. NeuroImage, 7, 23-29.

    Abstract

    A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.
  • Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D. and 25 moreGialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D., Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B., & Schulte-Körne, G. (2019). Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Translational Psychiatry, 9(1): 77. doi:10.1038/s41398-019-0402-0.

    Abstract

    Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10−9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10−8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10−8) and with all the cognitive traits tested (p = 3.07 × 10−8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10−5–10−7]) and negatively associated with ADHD PRS (p ~ [10−8−10−17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.
  • Giering, E., Tinbergen, M., & Verbunt, A. (2009). Research Report 2007 | 2008. Nijmegen: Max Planck Institute for Psycholinguistics.
  • Gisselgard, J., Uddén, J., Ingvar, M., & Petersson, K. M. (2007). Disruption of order information by irrelevant items: A serial recognition paradigm. Acta Psychologica, 124(3), 356-369. doi:10.1016/j.actpsy.2006.04.002.

    Abstract

    Irrelevant speech effect (ISE) is defined as a decrement in visually presented digit-list short-term memory performance due to exposure to irrelevant auditory material. Perhaps the most successful theoretical explanation of the effect is the changing state hypothesis. This hypothesis explains the effect in terms of confusion between amodal serial order cues, and represents a view based on the interference caused by the processing of similar order information of the visual and auditory materials. An alternative view suggests that the interference occurs as a consequence of the similarity between the visual and auditory contents of the stimuli. An important argument for the former view is the observation that ISE is almost exclusively observed in tasks that require memory for serial order. However, most short-term memory tasks require that both item and order information be retained in memory. An ideal task to investigate the sensitivity of maintenance of serial order to irrelevant speech would be one that calls upon order information but not item information. One task that is particularly suited to address this issue is serial recognition. In a typical serial recognition task, a list of items is presented and then probed by the same list in which the order of two adjacent items has been transposed. Due to the re-presentation of the encoding string, serial recognition requires primarily the serial order to be maintained while the content of the presented items is deemphasized. In demonstrating a highly significant ISE of changing versus steady-state auditory items in a serial recognition task, the present finding lends support for and extends previous empirical findings suggesting that irrelevant speech has the potential to interfere with the coding of the order of the items to be memorized.
  • Glaser, B., & Holmans, P. (2009). Comparison of methods for combining case-control and family-based association studies. Human Heredity, 68(2), 106-116. doi:10.1159/000212503.

    Abstract

    OBJECTIVES: Combining the analysis of family-based samples with unrelated individuals can enhance the power of genetic association studies. Various combined analysis techniques have been recently developed; as yet, there have been no comparisons of their power, or robustness to confounding factors. We investigated empirically the power of up to six combined methods using simulated samples of trios and unrelated cases/controls (TDTCC), trios and unrelated controls (TDTC), and affected sibpairs with parents and unrelated cases/controls (ASPFCC). METHODS: We simulated multiplicative, dominant and recessive models with varying risk parameters in single samples. Additionally, we studied false-positive rates and investigated, if possible, the coverage of the true genetic effect (TDTCC). RESULTS/CONCLUSIONS: Under the TDTCC design, we identified four approaches with equivalent power and false-positive rates. Combined statistics were more powerful than single-sample statistics or a pooled chi(2)-statistic when risk parameters were similar in single samples. Adding parental information to the CC part of the joint likelihood increased the power of generalised logistic regression under the TDTC but not the TDTCC scenario. Formal testing of differences between risk parameters in subsamples was the most sensitive approach to avoid confounding in combined analysis. Non-parametric analysis based on Monte-Carlo testing showed the highest power for ASPFCC samples.
  • Glaser, B., Nikolov, I., Chubb, D., Hamshere, M. L., Segurado, R., Moskvina, V., & Holmans, P. (2007). Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests. BMC Proceedings, 1(Suppl 1): 54.

    Abstract

    Using parametric and nonparametric techniques, our study investigated the presence of single locus and pairwise effects between 20 markers of the Genetic Analysis Workshop 15 (GAW15) North American Rheumatoid Arthritis Consortium (NARAC) candidate gene data set (Problem 2), analyzing 463 independent patients and 855 controls. Specifically, our work examined the correspondence between logistic regression (LR) analysis of single-locus and pairwise interaction effects, and random forest (RF) single and joint importance measures. For this comparison, we selected small but stable RFs (500 trees), which showed strong correlations (r~0.98) between their importance measures and those by RFs grown on 5000 trees. Both RF importance measures captured most of the LR single-locus and pairwise interaction effects, while joint importance measures also corresponded to full LR models containing main and interaction effects. We furthermore showed that RF measures were particularly sensitive to data imputation. The most consistent pairwise effect on rheumatoid arthritis was found between two markers within MAP3K7IP2/SUMO4 on 6q25.1, although LR and RFs assigned different significance levels. Within a hypothetical two-stage design, pairwise LR analysis of all markers with significant RF single importance would have reduced the number of possible combinations in our small data set by 61%, whereas joint importance measures would have been less efficient for marker pair reduction. This suggests that RF single importance measures, which are able to detect a wide range of interaction effects and are computationally very efficient, might be exploited as pre-screening tool for larger association studies. Follow-up analysis, such as by LR, is required since RFs do not indicate highrisk genotype combinations.
  • Glock, P., Raum, B., Heermann, T., Kretschmer, S., Schweizer, J., Mücksch, J., Alagöz, G., & Schwille, P. (2019). Stationary patterns in a two-protein reaction-diffusion system. ACS Synthetic Biology, 8(1), 148-157. doi:10.1021/acssynbio.8b00415.

    Abstract

    Patterns formed by reaction-diffusion mechanisms are crucial for the development or sustenance of most organisms in nature. Patterns include dynamic waves, but are more often found as static distributions, such as animal skin patterns. Yet, a simplistic biological model system to reproduce and quantitatively investigate static reaction-diffusion patterns has been missing so far. Here, we demonstrate that the Escherichia coli MM system, known for its oscillatory behavior between the cell poles, is under certain conditions capable of transitioning to quasi-stationary protein distributions on membranes closely resembling Turing patterns. We systematically titrated both proteins, MinD and MinE, and found that removing all purification tags and linkers from the N-terminus of MinE was critical for static patterns to occur. At small bulk heights, dynamic patterns dominate, such as in rod-shaped microcompartments. We see implications of this work for studying pattern formation in general, but also for creating artificial gradients as downstream cues in synthetic biology applications.
  • De Goede, D., Shapiro, L. P., Wester, F., Swinney, D. A., & Bastiaanse, Y. R. M. (2009). The time course of verb processing in Dutch sentences. Journal of Psycholinguistic Research, 38(3), 181-199. doi:10.1007/s10936-009-9117-3.

    Abstract

    The verb has traditionally been characterized as the central element in a sentence. Nevertheless, the exact role of the verb during the actual ongoing comprehension of a sentence as it unfolds in time remains largely unknown. This paper reports the results of two Cross-Modal Lexical Priming (CMLP) experiments detailing the pattern of verb priming during on-line processing of Dutch sentences. Results are contrasted with data from a third CMLP experiment on priming of nouns in similar sentences. It is demonstrated that the meaning of a matrix verb remains active throughout the entire matrix clause, while this is not the case for the meaning of a subject head noun. Activation of the meaning of the verb only dissipates upon encountering a clear signal as to the start of a new clause.
  • Goldin-Meadow, S., Ozyurek, A., Sancar, B., & Mylander, C. (2009). Making language around the globe: A cross-linguistic study of homesign in the United States, China, and Turkey. In J. Guo, E. Lieven, N. Budwig, S. Ervin-Tripp, K. Nakamura, & S. Ozcaliskan (Eds.), Crosslinguistic approaches to the psychology of language: Research in the tradition of Dan Isaac Slobin (pp. 27-39). New York: Psychology Press.
  • Goldin-Meadow, S., Gentner, D., Ozyurek, A., & Gurcanli, O. (2009). Spatial language supports spatial cognition: Evidence from deaf homesigners [abstract]. Cognitive Processing, 10(Suppl. 2), S133-S134.
  • Goldrick, M., McClain, R., Cibelli, E., Adi, Y., Gustafson, E., Moers, C., & Keshet, J. (2019). The influence of lexical selection disruptions on articulation. Journal of Experimental Psychology: Learning, Memory, and Cognition, 45(6), 1107-1141. doi:10.1037/xlm0000633.

    Abstract

    Interactive models of language production predict that it should be possible to observe long-distance interactions; effects that arise at one level of processing influence multiple subsequent stages of representation and processing. We examine the hypothesis that disruptions arising in nonform-based levels of planning—specifically, lexical selection—should modulate articulatory processing. A novel automatic phonetic analysis method was used to examine productions in a paradigm yielding both general disruptions to formulation processes and, more specifically, overt errors during lexical selection. This analysis method allowed us to examine articulatory disruptions at multiple levels of analysis, from whole words to individual segments. Baseline performance by young adults was contrasted with young speakers’ performance under time pressure (which previous work has argued increases interaction between planning and articulation) and performance by older adults (who may have difficulties inhibiting nontarget representations, leading to heightened interactive effects). The results revealed the presence of interactive effects. Our new analysis techniques revealed these effects were strongest in initial portions of responses, suggesting that speech is initiated as soon as the first segment has been planned. Interactive effects did not increase under response pressure, suggesting interaction between planning and articulation is relatively fixed. Unexpectedly, lexical selection disruptions appeared to yield some degree of facilitation in articulatory processing (possibly reflecting semantic facilitation of target retrieval) and older adults showed weaker, not stronger interactive effects (possibly reflecting weakened connections between lexical and form-level representations).
  • Goldrick, M., Brehm, L., Pyeong Whan, C., & Smolensky, P. (2019). Transient blend states and discrete agreement-driven errors in sentence production. In G. J. Snover, M. Nelson, B. O'Connor, & J. Pater (Eds.), Proceedings of the Society for Computation in Linguistics (SCiL 2019) (pp. 375-376). doi:10.7275/n0b2-5305.
  • Goncharova, M. V., & Klenova, A. V. (2019). Siberian crane chick calls reflect their thermal state. Bioacoustics, 28, 115-128. doi:10.1080/09524622.2017.1399827.

    Abstract

    Chicks can convey information about their needs with calls. But it is still unknown if there are any universal need indicators in chick vocalizations. Previous studies have shown that in some species vocal activity and/or temporal-frequency variables of calls are related to the chick state, whereas other studies did not confirm it. Here, we tested experimentally whether vocal activity and temporal-frequency variables of calls change with cooling. We studied 10 human-raised
    Siberian crane (Grus leucogeranus) chicks at 3–15 days of age. We found that the cooled chicks produced calls higher in fundamental
    frequency and power variables, longer in duration and at a higher calling rate than in the control chicks. However, we did not find
    significant changes in level of entropy and occurrence of non-linear phenomena in chick calls recorded during the experimental cooling. We suggest that the level of vocal activity is a universal indicator of need for warmth in precocial and semi-precocial birds (e.g. cranes), but not in altricial ones. We also assume that coding of needs via temporal-frequency variables of calls is typical in species whose adults could not confuse their chicks with other chicks. Siberian cranes stay on separate territories during their breeding season, so parents do not need to check individuality of their offspring in the home area. In this case, all call characteristics are available for other purposes and serve to communicate chicks’ vital needs.
  • Goriot, C. (2019). Early-English education works no miracles: Cognitive and linguistic development in mainstream, early-English, and bilingual primary-school pupils in the Netherlands. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Goudbeek, M. (2007). The acquisition of auditory categories. PhD Thesis, Radboud University Nijmegen, Nijmegen.

    Abstract

    This doctoral dissertation investigated the learning of auditory categories by applying insights from child language learning, visual category learning and phonetic categorization by adults. The experiments in chapter 2 concern supervised learning of multidimensional non-speech categories varying in two dimensions: duration and a non speech analogue of formant frequency. In experiment 1, one dimension of variation determined category membership, variation in the other dimension was irrelevant. Listeners quickly learned to categorize according to this distinction. In experiment 2, both dimensions needed to be combined to categorize correctly. Performance was much lower, but most listeners succeeded in this task. However, in a maintenance phase without feedback or distributional information, listeners reverted to a unidimensional solution. In a maintenance phase with distributional information, listeners did use both dimensions correctly, arguing for the importance of distributional information in (auditory) category acquisition. In chapter 3, the listeners had to classify the same categories, but without feedback. In experiment 1, listeners succeeded to discover the relevant dimension of variation (and ignore the irrelevant one) without feedback. Much of this learning was lost in the maintenance phase, especially for the dimension formant frequency. With two relevant dimensions (Experiment 2), listeners were not able to learn to use both dimensions and reverted to a unidimensional solution. Chapter 4 applied the paradigms of chapter 2 and 3 to the learning of speech categories. Spanish native listeners learned Dutch vowel contrast with one relevant dimension of variation. With feedback, learning was swift, although was not well maintained without feedback or distributional information. Without feedback, Spanish listeners reverted to the dimensions best known in their native phonology, formant frequency, even when distributional information pointed to duration. The results are discussed in chapter 5. The implications for models of speech acquisition are discussed.

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  • Goudbeek, M., Swingley, D., & Kluender, K. R. (2007). The limits of multidimensional category learning. In H. van Hamme, & R. van Son (Eds.), Proceedings of Interspeech 2007 (pp. 2325-2328). Adelaide: Causal Productions.

    Abstract

    Distributional learning is almost certainly involved in the human acquisition of phonetic categories. Because speech is inherently a multidimensional signal, learning phonetic categories entails multidimensional learning. Yet previous studies of auditory category learning have shown poor maintenance of learned multidimensional categories. Two experiments explored ways to improve maintenance: by increasing the costs associated with applying a unidimensional strategy; by providing additional information about the category structures; and by giving explicit instructions on how to categorize. Only with explicit instructions were categorization strategies maintained in a maintenance phase without supervision or distributional information.
  • Goudbeek, M., Swingley, D., & Smits, R. (2009). Supervised and unsupervised learning of multidimensional acoustic categories. Journal of Experimental Psychology: Human Perception and Performance, 35, 1913-1933. doi:10.1037/a0015781.

    Abstract

    Learning to recognize the contrasts of a language-specific phonemic repertoire can be viewed as forming categories in a multidimensional psychophysical space. Research on the learning of distributionally defined visual categories has shown that categories defined over I dimension are easy to learn and that learning multidimensional categories is more difficult but tractable under specific task conditions. In 2 experiments, adult participants learned either a unidimensional ora multidimensional category distinction with or without supervision (feedback) during learning. The unidimensional distinctions were readily learned and supervision proved beneficial, especially in maintaining category learning beyond the learning phase. Learning the multidimensional category distinction proved to be much more difficult and supervision was not nearly as beneficial as with unidimensionally defined categories. Maintaining a learned multidimensional category distinction was only possible when the distributional information (hat identified the categories remained present throughout the testing phase. We conclude that listeners are sensitive to both trial-by-trial feedback and the distributional information in the stimuli. Even given limited exposure, listeners learned to use 2 relevant dimensions. albeit with considerable difficulty.
  • Grabe, E. (1998). Comparative intonational phonology: English and German. PhD Thesis, Radboud University Nijmegen, Nijmegen. doi:10.17617/2.2057683.
  • Graham, S. A., Jégouzo, S. A. F., Yan, S., Powlesland, A. S., Brady, J. P., Taylor, M. E., & Drickamer, K. (2009). Prolectin, a glycan-binding receptor on dividing B cells in germinal centers. The Journal of Biological Chemistry, 284, 18537-18544. doi:10.1074/jbc.M109.012807.

    Abstract

    Prolectin, a previously undescribed glycan-binding receptor, has been identified by re-screening of the human genome for genes encoding proteins containing potential C-type carbohydrate-recognition domains. Glycan array analysis revealed that the carbohydrate-recognition domain in the extracellular domain of the receptor binds glycans with terminal α-linked mannose or fucose residues. Prolectin expressed in fibroblasts is found at the cell surface, but unlike many glycan-binding receptors it does not mediate endocytosis of a neoglycoprotein ligand. However, compared with other known glycan-binding receptors, the receptor contains an unusually large intracellular domain that consists of multiple sequence motifs, including phosphorylated tyrosine residues, that allow it to interact with signaling molecules such as Grb2. Immunohistochemistry has been used to demonstrate that prolectin is expressed on a specialized population of proliferating B cells in germinal centers. Thus, this novel receptor has the potential to function in carbohydrate-mediated communication between cells in the germinal center.
  • Grey, S., Schubel, L. C., McQueen, J. M., & Van Hell, J. G. (2019). Processing foreign-accented speech in a second language: Evidence from ERPs during sentence comprehension in bilinguals. Bilingualism: Language and Cognition, 22(5), 912-929. doi:10.1017/S1366728918000937.

    Abstract

    This study examined electrophysiological correlates of sentence comprehension of native-accented and foreign-accented
    speech in a second language (L2), for sentences produced in a foreign accent different from that associated with the listeners’
    L1. Bilingual speaker-listeners process different accents in their L2 conversations, but the effects on real-time L2 sentence
    comprehension are unknown. Dutch–English bilinguals listened to native American-English accented sentences and foreign
    (and for them unfamiliarly-accented) Chinese-English accented sentences while EEG was recorded. Behavioral sentence
    comprehension was highly accurate for both native-accented and foreign-accented sentences. ERPs showed different patterns
    for L2 grammar and semantic processing of native- and foreign-accented speech. For grammar, only native-accented speech
    elicited an Nref. For semantics, both native- and foreign-accented speech elicited an N400 effect, but with a delayed onset
    across both accent conditions. These findings suggest that the way listeners comprehend native- and foreign-accented
    sentences in their L2 depends on their familiarity with the accent.
  • Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., Belliveau, R., Bettella, F., Buxbaum, J. D., Bybjerg-Grauholm, J., Bækved-Hansen, M., Cerrato, F., Chambert, K., Christensen, J. H., Churchhouse, C., Dellenvall, K. and 55 moreGrove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., Belliveau, R., Bettella, F., Buxbaum, J. D., Bybjerg-Grauholm, J., Bækved-Hansen, M., Cerrato, F., Chambert, K., Christensen, J. H., Churchhouse, C., Dellenvall, K., Demontis, D., De Rubeis, S., Devlin, B., Djurovic, S., Dumont, A., Goldstein, J., Hansen, C. S., Hauberg, M. E., Hollegaard, M. V., Hope, S., Howrigan, D. P., Huang, H., Hultman, C., Klei, L., Maller, J., Martin, J., Martin, A. R., Moran, J., Nyegaard, M., Nærland, T., Palmer, D. S., Palotie, A., Pedersen, C. B., Pedersen, M. G., Poterba, T., Poulsen, J. B., St Pourcain, B., Qvist, P., Rehnström, K., Reichenberg, A., Reichert, J., Robinson, E. B., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F. K., Smith, G. D., Stefansson, H., Stefansson, K., Steinberg, S., Stevens, C., Sullivan, P. F., Turley, P., Walters, G. B., Xu, X., Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Me Research Team, Geschwind, D., Nordentoft, M., Hougaard, D. M., Werge, T., Mors, O., Mortensen, P. B., Neale, B. M., Daly, M. J., & Børglum, A. D. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics, 51, 431-444. doi:10.1038/s41588-019-0344-8.

    Abstract

    Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

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