Publications

Displaying 101 - 200 of 1174
  • Brown, P. (1983). [Review of the books Mayan Texts I, II, and III ed. by Louanna Furbee-Losee]. International Journal of American Linguistics, 49, 337-341.
  • Brown, P. (1998). [Review of the book by A.J. Wootton, Interaction and the development of mind]. Journal of the Royal Anthropological Institute, 4(4), 816-817.
  • Brown, P. (1998). La identificación de las raíces verbales en Tzeltal (Maya): Cómo lo hacen los niños? Función, 17-18, 121-146.

    Abstract

    This is a Spanish translation of Brown 1997.
  • Brown, P., & Levinson, S. C. (1987). Politeness: Some universals in language usage. Cambridge University Press.

    Abstract

    This study is about the principles for constructing polite speech. The core of it was published as Brown and Levinson (1978); here it is reissued with a new introduction which surveys the now considerable literature in linguistics, psychology and the social sciences that the original extended essay stimulated, and suggests new directions for research. We describe and account for some remarkable parallelisms in the linguistic construction of utterances with which people express themselves in different languges and cultures. A motive for these parallels is isolated - politeness, broadly defined to include both polite friendliness and polite formality - and a universal model is constructed outlining the abstract principles underlying polite usages. This is based on the detailed study of three unrelated languages and cultures: the Tamil of south India, the Tzeltal spoken by Mayan Indians in Chiapas, Mexico, and the English of the USA and England, supplemented by examples from other cultures. Of general interest is the point that underneath the apparent diversity of polite behaviour in different societies lie some general pan-human principles of social interaction, and the model of politeness provides a tool for analysing the quality of social relations in any society.
  • Bruggeman, L., & Cutler, A. (2020). No L1 privilege in talker adaptation. Bilingualism: Language and Cognition, 23(3), 681-693. doi:10.1017/S1366728919000646.

    Abstract

    As a rule, listening is easier in first (L1) than second languages (L2); difficult L2 listening can challenge even highly proficient users. We here examine one particular listening function, adaptation to novel talkers, in such a high-proficiency population: Dutch emigrants to Australia, predominantly using English outside the family, but all also retaining L1 proficiency. Using lexically-guided perceptual learning (Norris, McQueen & Cutler, 2003), we investigated these listeners’ adaptation to an ambiguous speech sound, in parallel experiments in both their L1 and their L2. A control study established that perceptual learning outcomes were unaffected by the procedural measures required for this double comparison. The emigrants showed equivalent proficiency in tests in both languages, robust perceptual adaptation in their L2, English, but no adaptation in L1. We propose that adaptation to novel talkers is a language-specific skill requiring regular novel practice; a limited set of known (family) interlocutors cannot meet this requirement.
  • Brugman, H. (2004). ELAN 2.2 now available. Language Archive Newsletter, 1(3), 13-14.
  • Brugman, H., Sloetjes, H., Russel, A., & Klassmann, A. (2004). ELAN 2.3 available. Language Archive Newsletter, 1(4), 13-13.
  • Brugman, H. (2004). ELAN Releases 2.0.2 and 2.1. Language Archive Newsletter, 1(2), 4-4.
  • Brysbaert, M., Sui, L., Dirix, N., & Hintz, F. (2020). Dutch Author Recognition Test. Journal of Cognition, 3(1): 6. doi:10.5334/joc.95.

    Abstract

    Book reading shows large individual variability and correlates with better language ability and more empathy. This makes reading exposure an interesting variable to study. Research in English suggests that an author recognition test is the most reliable objective assessment of reading frequency. In this article, we describe the efforts we made to build and test a Dutch author recognition test (DART for older participants and DART_R for younger participants). Our data show that the test is reliable and valid, both in the Netherlands and in Belgium (split-half reliability over .9 with university students, significant correlations with language abilities) and can be used with a young, non-university population. The test is free to use for research purposes.

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  • Bulut, T., Cheng, S. K., Xu, K. Y., Hung, D. L., & Wu, D. H. (2018). Is there a processing preference for object relative clauses in Chinese? Evidence from ERPs. Frontiers in Psychology, 9: 995. doi:10.3389/fpsyg.2018.00995.

    Abstract

    A consistent finding across head-initial languages, such as English, is that subject relative clauses (SRCs) are easier to comprehend than object relative clauses (ORCs). However, several studies in Mandarin Chinese, a head-final language, revealed the opposite pattern, which might be modulated by working memory (WM) as suggested by recent results from self-paced reading performance. In the present study, event-related potentials (ERPs) were recorded when participants with high and low WM spans (measured by forward digit span and operation span tests) read Chinese ORCs and SRCs. The results revealed an N400-P600 complex elicited by ORCs on the relativizer, whose magnitude was modulated by the WM span. On the other hand, a P600 effect was elicited by SRCs on the head noun, whose magnitude was not affected by the WM span. These findings paint a complex picture of relative clause processing in Chinese such that opposing factors involving structural ambiguities and integration of filler-gap dependencies influence processing dynamics in Chinese relative clauses.
  • Burenhult, N. (2004). Landscape terms and toponyms in Jahai: A field report. Lund Working Papers, 51, 17-29.
  • Burgers, N., Ettema, D. F., Hooimeijer, P., & Barendse, M. T. (2021). The effects of neighbours on sport club membership. European Journal for Sport and Society, 18(4), 310-325. doi:10.1080/16138171.2020.1840710.

    Abstract

    Neighbours have been found to influence each other’s behaviour (contagion effect). However, little is known about the influence on sport club membership. This while increasing interest has risen for the social role of sport clubs. Sport clubs could bring people from different backgrounds together. A mixed composition is a key element in this social role. Individual characteristics are strong predictors of sport club membership. Western high educated men are more likely to be members. In contrast to people with a non-Western migration background. The neighbourhood is a more fixed meeting place, which provides unique opportunities for people from different backgrounds to interact. This study aims to gain more insight into the influence of neighbours on sport club membership. This research looks especially at the composition of neighbour’s migration background, since they tend to be more or less likely to be members and therefore could encourage of inhibit each other. A population database including the only registry data of all Dutch inhabitants was merged with data of 11 sport unions. The results show a cross-level effect of neighbours on sport club membership. We find a contagion effect of neighbours’ migration background; having a larger proportion of neighbours with a migration background from a non-Western country reduces the odds, as expected. However, this contagion effect was not found for people with a Moroccan or Turkish background.
  • Burghoorn, F., Dingemanse, M., Van Lier, R., & Van Leeuwen, T. M. (2020). The relation between the degree of synaesthesia, autistic traits, and local/global visual perception. Journal of Autism and Developmental Disorders, 50, 12-29. doi:10.1007/s10803-019-04222-7.

    Abstract

    In individuals with synaesthesia specific sensory stimulation leads to unusual concurrent perceptions in the same or a different modality. Recent studies have demonstrated a high co-occurrence between synaesthesia and autism spectrum disorder (ASD), a condition also characterized by altered perception. A potentially shared characteristic of synaesthesia and ASD is a bias towards local (detail-focussed) perception. We investigated whether a bias towards local perception is indeed shared between synaesthesia and ASD. In a neurotypical population, we studied the relation between the degree of autistic traits (measured by the AQ) and the degree of grapheme-colour synaesthesia (measured by a consistency task), as well as whether both are related to a local bias in tasks assessing local/global visual perception. A positive correlation between total AQ scores and the degree of synaesthesia was found. Our study extends previous studies that found a high ASD-synaesthesia co-occurrence in clinical populations. Consistent with the hypothesized local perceptual bias in ASD, scores on the AQ-attention to detail subscale were related to increased performance on an Embedded Figures Task (EFT), and we found evidence for a relation to reduced susceptibility to visual illusions. We found no relation between autistic traits and local visual perception in a motion coherence task (MCT). Also, no relation between synaesthesia and local visual perception was found, although a reduced susceptibility to visual illusions resembled the results obtained for AQ-atttention to detail subscale. A suggested explanation for the absence of a relationship between the degree of synaesthesia and a local bias is that a possible local bias might be more pronounced in supra-threshold synaesthetes (compared to neurotypicals).
  • Byers-Heinlein, K., Bergmann, C., Davies, C., Frank, M., Hamlin, J. K., Kline, M., Kominsky, J., Kosie, J., Lew-Williams, C., Liu, L., Mastroberardino, M., Singh, L., Waddell, C. P. G., Zettersten, M., & Soderstrom, M. (2020). Building a collaborative psychological science: Lessons learned from ManyBabies 1. Canadian Psychology/Psychologie canadienne, 61(4), 349-363. doi:10.1037/cap0000216.

    Abstract

    The field of infancy research faces a difficult challenge: some questions require samples that are simply too large for any one lab to recruit and test. ManyBabies aims to address this problem by forming large-scale collaborations on key theoretical questions in developmental science, while promoting the uptake of Open Science practices. Here, we look back on the first project completed under the ManyBabies umbrella – ManyBabies 1 – which tested the development of infant-directed speech preference. Our goal is to share the lessons learned over the course of the project and to articulate our vision for the role of large-scale collaborations in the field. First, we consider the decisions made in scaling up experimental research for a collaboration involving 100+ researchers and 70+ labs. Next, we discuss successes and challenges over the course of the project, including: protocol design and implementation, data analysis, organizational structures and collaborative workflows, securing funding, and encouraging broad participation in the project. Finally, we discuss the benefits we see both in ongoing ManyBabies projects and in future large-scale collaborations in general, with a particular eye towards developing best practices and increasing growth and diversity in infancy research and psychological science in general. Throughout the paper, we include first-hand narrative experiences, in order to illustrate the perspectives of researchers playing different roles within the project. While this project focused on the unique challenges of infant research, many of the insights we gained can be applied to large-scale collaborations across the broader field of psychology.
  • Byers-Heinlein, K., Tsui, A. S. M., Bergmann, C., Black, A. K., Brown, A., Carbajal, M. J., Durrant, S., Fennell, C. T., Fiévet, A.-C., Frank, M. C., Gampe, A., Gervain, J., Gonzalez-Gomez, N., Hamlin, J. K., Havron, N., Hernik, M., Kerr, S., Killam, H., Klassen, K., Kosie, J. and 18 moreByers-Heinlein, K., Tsui, A. S. M., Bergmann, C., Black, A. K., Brown, A., Carbajal, M. J., Durrant, S., Fennell, C. T., Fiévet, A.-C., Frank, M. C., Gampe, A., Gervain, J., Gonzalez-Gomez, N., Hamlin, J. K., Havron, N., Hernik, M., Kerr, S., Killam, H., Klassen, K., Kosie, J., Kovács, Á. M., Lew-Williams, C., Liu, L., Mani, N., Marino, C., Mastroberardino, M., Mateu, V., Noble, C., Orena, A. J., Polka, L., Potter, C. E., Schreiner, M., Singh, L., Soderstrom, M., Sundara, M., Waddell, C., Werker, J. F., & Wermelinger, S. (2021). A multilab study of bilingual infants: Exploring the preference for infant-directed speech. Advances in Methods and Practices in Psychological Science, 4(1), 1-30. doi:10.1177/2515245920974622.

    Abstract

    From the earliest months of life, infants prefer listening to and learn better from infant-directed speech (IDS) than adult-directed speech (ADS). Yet, IDS differs within communities, across languages, and across cultures, both in form and in prevalence. This large-scale, multi-site study used the diversity of bilingual infant experiences to explore the impact of different types of linguistic experience on infants’ IDS preference. As part of the multi-lab ManyBabies project, we compared lab-matched samples of 333 bilingual and 385 monolingual infants’ preference for North-American English IDS (cf. ManyBabies Consortium, in press (MB1)), tested in 17 labs in 7 countries. Those infants were tested in two age groups: 6–9 months (the younger sample) and 12–15 months (the older sample). We found that bilingual and monolingual infants both preferred IDS to ADS, and did not differ in terms of the overall magnitude of this preference. However, amongst bilingual infants who were acquiring North-American English (NAE) as a native language, greater exposure to NAE was associated with a stronger IDS preference, extending the previous finding from MB1 that monolinguals learning NAE as a native language showed a stronger preference than infants unexposed to NAE. Together, our findings indicate that IDS preference likely makes a similar contribution to monolingual and bilingual development, and that infants are exquisitely sensitive to the nature and frequency of different types of language input in their early environments.
  • Byun, K.-S., De Vos, C., Bradford, A., Zeshan, U., & Levinson, S. C. (2018). First encounters: Repair sequences in cross-signing. Topics in Cognitive Science, 10(2), 314-334. doi:10.1111/tops.12303.

    Abstract

    Most human communication is between people who speak or sign the same languages. Nevertheless, communication is to some extent possible where there is no language in common, as every tourist knows. How this works is of some theoretical interest (Levinson 2006). A nice arena to explore this capacity is when deaf signers of different languages meet for the first time, and are able to use the iconic affordances of sign to begin communication. Here we focus on Other-Initiated Repair (OIR), that is, where one signer makes clear he or she does not understand, thus initiating repair of the prior conversational turn. OIR sequences are typically of a three-turn structure (Schegloff 2007) including the problem source turn (T-1), the initiation of repair (T0), and the turn offering a problem solution (T+1). These sequences seem to have a universal structure (Dingemanse et al. 2013). We find that in most cases where such OIR occur, the signer of the troublesome turn (T-1) foresees potential difficulty, and marks the utterance with 'try markers' (Sacks & Schegloff 1979, Moerman 1988) which pause to invite recognition. The signers use repetition, gestural holds, prosodic lengthening and eyegaze at the addressee as such try-markers. Moreover, when T-1 is try-marked this allows for faster response times of T+1 with respect to T0. This finding suggests that signers in these 'first encounter' situations actively anticipate potential trouble and, through try-marking, mobilize and facilitate OIRs. The suggestion is that heightened meta-linguistic awareness can be utilized to deal with these problems at the limits of our communicational ability.
  • Carlsson, K., Petersson, K. M., Lundqvist, D., Karlsson, A., Ingvar, M., & Öhman, A. (2004). Fear and the amygdala: manipulation of awareness generates differential cerebral responses to phobic and fear-relevant (but nonfeared) stimuli. Emotion, 4(4), 340-353. doi:10.1037/1528-3542.4.4.340.

    Abstract

    Rapid response to danger holds an evolutionary advantage. In this positron emission tomography study, phobics were exposed to masked visual stimuli with timings that either allowed awareness or not of either phobic, fear-relevant (e.g., spiders to snake phobics), or neutral images. When the timing did not permit awareness, the amygdala responded to both phobic and fear-relevant stimuli. With time for more elaborate processing, phobic stimuli resulted in an addition of an affective processing network to the amygdala activity, whereas no activity was found in response to fear-relevant stimuli. Also, right prefrontal areas appeared deactivated, comparing aware phobic and fear-relevant conditions. Thus, a shift from top-down control to an affectively driven system optimized for speed was observed in phobic relative to fear-relevant aware processing.
  • Carota, F., Nili, H., Pulvermüller, F., & Kriegeskorte, N. (2021). Distinct fronto-temporal substrates of distributional and taxonomic similarity among words: Evidence from RSA of BOLD signals. NeuroImage, 224: 117408. doi:10.1016/j.neuroimage.2020.117408.

    Abstract

    A class of semantic theories defines concepts in terms of statistical distributions of lexical items, basing meaning on vectors of word co-occurrence frequencies. A different approach emphasizes abstract hierarchical taxonomic relationships among concepts. However, the functional relevance of these different accounts and how they capture information-encoding of meaning in the brain still remains elusive.

    We investigated to what extent distributional and taxonomic models explained word-elicited neural responses using cross-validated representational similarity analysis (RSA) of functional magnetic resonance imaging (fMRI) and novel model comparisons.

    Our findings show that the brain encodes both types of semantic similarities, but in distinct cortical regions. Posterior middle temporal regions reflected word links based on hierarchical taxonomies, along with the action-relatedness of the semantic word categories. In contrast, distributional semantics best predicted the representational patterns in left inferior frontal gyrus (LIFG, BA 47). Both representations coexisted in angular gyrus supporting semantic binding and integration. These results reveal that neuronal networks with distinct cortical distributions across higher-order association cortex encode different representational properties of word meanings. Taxonomy may shape long-term lexical-semantic representations in memory consistently with sensorimotor details of semantic categories, whilst distributional knowledge in the LIFG (BA 47) enable semantic combinatorics in the context of language use.

    Our approach helps to elucidate the nature of semantic representations essential for understanding human language.
  • Carrion Castillo, A., Estruch, S. B., Maassen, B., Franke, B., Francks, C., & Fisher, S. E. (2021). Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. Human Genetics, 140, 1183-1200. doi:10.1007/s00439-021-02289-w.

    Abstract

    Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related disorders can provide useful entrypoints into biological pathways. In the present study, we performed a genome-wide linkage scan in a three-generational family in which dyslexia affects 14 of its 30 members and seems to be transmitted with an autosomal dominant pattern of inheritance. We identified a locus on chromosome 7q21.11 which cosegregated with dyslexia status, with the exception of two cases of phenocopy (LOD = 2.83). Whole-genome sequencing of key individuals enabled the assessment of coding and noncoding variation in the family. Two rare single-nucleotide variants (rs144517871 and rs143835534) within the first intron of the SEMA3C gene cosegregated with the 7q21.11 risk haplotype. In silico characterization of these two variants predicted effects on gene regulation, which we functionally validated for rs144517871 in human cell lines using luciferase reporter assays. SEMA3C encodes a secreted protein that acts as a guidance cue in several processes, including cortical neuronal migration and cellular polarization. We hypothesize that these intronic variants could have a cis-regulatory effect on SEMA3C expression, making a contribution to dyslexia susceptibility in this family.
  • Carrion Castillo, A., Pepe, A., Kong, X., Fisher, S. E., Mazoyer, B., Tzourio-Mazoyer, N., Crivello, F., & Francks, C. (2020). Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment. Cortex, 124, 137-153. doi:10.1016/j.cortex.2019.11.006.

    Abstract

    Previous studies have suggested that altered asymmetry of the planum temporale (PT) is associated with neurodevelopmental disorders, including dyslexia, schizophrenia, and autism. Shared genetic factors have been suggested to link PT asymmetry to these disorders. In a dataset of unrelated subjects from the general population (UK Biobank, N= 18,057), we found that PT volume asymmetry had a significant heritability of roughly 14%. In genome-wide association analysis, two loci were significantly associated with PT asymmetry, including a coding polymorphism within the gene ITIH5 that is predicted to affect the protein’s function and to be deleterious (rs41298373, P=2.01×10−15), and a locus that affects the expression of the genes BOK and DTYMK (rs7420166, P=7.54×10-10). DTYMK showed left-right asymmetry of mRNA expression in post mortem PT tissue. Cortex-wide mapping of these SNP effects revealed influences on asymmetry that went somewhat beyond the PT. Using publicly available genome-wide association statistics from large-scale studies, we saw no significant genetic correlations of PT asymmetry with autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, educational attainment or intelligence. Of the top two individual loci associated with PT asymmetry, rs41298373 showed a tentative association with intelligence (unadjusted P=0.025), while the locus at BOK/DTYMK showed tentative association with educational attainment (unadjusted Ps<0.05). These findings provide novel insights into the genetic contributions to human brain asymmetry, but do not support a substantial polygenic association of PT asymmetry with cognitive variation and mental disorders, as far as can be discerned with current sample sizes.

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    Supplementary data
  • Carrol, G., & Conklin, K. (2020). Is all formulaic language created equal? Unpacking the processing advantage for different types of formulaic sequences. Language and Speech, 63(1), 95-122. doi:10.1177/0023830918823230.

    Abstract

    Research into recurrent, highly conventionalized “formulaic” sequences has shown a processing advantage compared to “novel” (non-formulaic) language. Studies of individual types of formulaic sequence often acknowledge the contribution of specific factors, but little work exists to compare the processing of different types of phrases with fundamentally different properties. We use eye-tracking to compare the processing of three types of formulaic phrases—idioms, binomials, and collocations—and consider whether overall frequency can explain the advantage for all three, relative to control phrases. Results show an advantage, as evidenced through shorter reading times, for all three types. While overall phrase frequency contributes much of the processing advantage, different types of phrase do show additional effects according to the specific properties that are relevant to each type: frequency, familiarity, and decomposability for idioms; predictability and semantic association for binomials; and mutual information for collocations. We discuss how the results contribute to our understanding of the representation and processing of multiword lexical units more broadly.

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    Supplementary materials
  • Carter, D. M., Broersma, M., Donnelly, K., & Konopka, A. E. (2018). Presenting the Bangor autoglosser and the Bangor automated clause-splitter. Digital Scholarship in the Humanities, 33(1), 21-28. doi:10.1093/llc/fqw065.

    Abstract

    Until recently, corpus studies of natural bilingual speech and, more specifically, codeswitching in bilingual speech have used a manual method of glossing, partof- speech tagging, and clause-splitting to prepare the data for analysis. In our article, we present innovative tools developed for the first large-scale corpus study of codeswitching triggered by cognates. A study of this size was only possible due to the automation of several steps, such as morpheme-by-morpheme glossing, splitting complex clauses into simple clauses, and the analysis of internal and external codeswitching through the use of database tables, algorithms, and a scripting language.
  • Casasanto, D., Casasanto, L. S., Gijssels, T., & Hagoort, P. (2020). The Reverse Chameleon Effect: Negative social consequences of anatomical mimicry. Frontiers in Psychology, 11: 1876. doi:10.3389/fpsyg.2020.01876.

    Abstract

    Bodily mimicry often makes the mimickee have more positive feelings about the mimicker. Yet, little is known about the causes of mimicry’s social effects. When people mimic each other’s bodily movements face to face, they can either adopt a mirrorwise perspective (moving in the same absolute direction) or an anatomical perspective (moving in the same direction relative to their own bodies). Mirrorwise mimicry maximizes visuo-spatial similarity between the mimicker and mimickee, whereas anatomical mimicry maximizes the similarity in the states of their motor systems. To compare the social consequences of visuo-spatial and motoric similarity, we asked participants to converse with an embodied virtual agent (VIRTUO), who mimicked their head movements either mirrorwise, anatomically, or not at all. Compared to participants who were not mimicked, those who were mimicked mirrorwise tended to rate VIRTUO more positively, but those who were mimicked anatomically rated him more negatively. During face-to-face conversation, mirrorwise and anatomical mimicry have opposite social consequences. Results suggest that visuo-spatial similarity between mimicker and mimickee, not similarity in motor system activity, gives rise to the positive social effects of bodily mimicry.
  • Casillas, M., Brown, P., & Levinson, S. C. (2020). Early language experience in a Tseltal Mayan village. Child Development, 91(5), 1819-1835. doi:10.1111/cdev.13349.

    Abstract

    Daylong at-home audio recordings from 10 Tseltal Mayan children (0;2–3;0; Southern Mexico) were analyzed for how often children engaged in verbal interaction with others and whether their speech environment changed with age, time of day, household size, and number of speakers present. Children were infrequently directly spoken to, with most directed speech coming from adults, and no increase with age. Most directed speech came in the mornings, and interactional peaks contained nearly four times the baseline rate of directed speech. Coarse indicators of children's language development (babbling, first words, first word combinations) suggest that Tseltal children manage to extract the linguistic information they need despite minimal directed speech. Multiple proposals for how they might do so are discussed.

    Additional information

    Tseltal-CLE-SuppMat.pdf
  • Casillas, M., Brown, P., & Levinson, S. C. (2021). Early language experience in a Papuan community. Journal of Child Language, 48(4), 792-814. doi:10.1017/S0305000920000549.

    Abstract

    The rate at which young children are directly spoken to varies due to many factors, including (a) caregiver ideas about children as conversational partners and (b) the organization of everyday life. Prior work suggests cross-cultural variation in rates of child-directed speech is due to the former factor, but has been fraught with confounds in comparing postindustrial and subsistence farming communities. We investigate the daylong language environments of children (0;0–3;0) on Rossel Island, Papua New Guinea, a small-scale traditional community where prior ethnographic study demonstrated contingency-seeking child interaction styles. In fact, children were infrequently directly addressed and linguistic input rate was primarily affected by situational factors, though children’s vocalization maturity showed no developmental delay. We compare the input characteristics between this community and a Tseltal Mayan one in which near-parallel methods produced comparable results, then briefly discuss the models and mechanisms for learning best supported by our findings.
  • Castro-Caldas, A., Petersson, K. M., Reis, A., Stone-Elander, S., & Ingvar, M. (1998). The illiterate brain: Learning to read and write during childhood influences the functional organization of the adult brain. Brain, 121, 1053-1063. doi:10.1093/brain/121.6.1053.

    Abstract

    Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.
  • Castroflorio, E., Den Hoed, J., Svistunova, D., Finelli, M. J., Cebrian-Serrano, A., Corrochano, S., Bassett, A. R., Davies, B., & Oliver, P. L. (2020). The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour. Cellular and Molecular Life Sciences. doi:10.1007/s00018-020-03721-6.

    Abstract

    Members of the Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) protein family are associated with multiple neurodevelopmental disorders, although their exact roles in disease remain unclear. For example, nuclear receptor coactivator 7 (NCOA7) has been associated with autism, although almost nothing is known regarding the mode-of-action of this TLDc protein in the nervous system. Here we investigated the molecular function of NCOA7 in neurons and generated a novel mouse model to determine the consequences of deleting this locus in vivo. We show that NCOA7 interacts with the cytoplasmic domain of the vacuolar (V)-ATPase in the brain and demonstrate that this protein is required for normal assembly and activity of this critical proton pump. Neurons lacking Ncoa7 exhibit altered development alongside defective lysosomal formation and function; accordingly, Ncoa7 deletion animals exhibited abnormal neuronal patterning defects and a reduced expression of lysosomal markers. Furthermore, behavioural assessment revealed anxiety and social defects in mice lacking Ncoa7. In summary, we demonstrate that NCOA7 is an important V-ATPase regulatory protein in the brain, modulating lysosomal function, neuronal connectivity and behaviour; thus our study reveals a molecular mechanism controlling endolysosomal homeostasis that is essential for neurodevelopment.
  • Çetinçelik, M., Rowland, C. F., & Snijders, T. M. (2021). Do the eyes have it? A systematic review on the role of eye gaze in infant language development. Frontiers in Psychology, 11: 589096. doi:10.3389/fpsyg.2020.589096.

    Abstract

    Eye gaze is a ubiquitous cue in child-caregiver interactions and infants are highly attentive to eye gaze from very early on. However, the question of why infants show gaze-sensitive behavior, and what role this sensitivity to gaze plays in their language development, is not yet well-understood. To gain a better understanding of the role of eye gaze in infants’ language learning, we conducted a broad systematic review of the developmental literature for all studies that investigate the role of eye gaze in infants’ language development. Across 77 peer-reviewed articles containing data from typically-developing human infants (0-24 months) in the domain of language development we identified two broad themes. The first tracked the effect of eye gaze on four developmental domains: (1) vocabulary development, (2) word-object mapping, (3) object processing, and (4) speech processing. Overall, there is considerable evidence that infants learn more about objects and are more likely to form word-object mappings in the presence of eye gaze cues, both of which are necessary for learning words. In addition, there is good evidence for longitudinal relationships between infants’ gaze following abilities and later receptive and expressive vocabulary. However, many domains (e.g. speech processing) are understudied; further work is needed to decide whether gaze effects are specific to tasks such as word-object mapping, or whether they reflect a general learning enhancement mechanism. The second theme explored the reasons why eye gaze might be facilitative for learning, addressing the question of whether eye gaze is treated by infants as a specialized socio-cognitive cue. We concluded that the balance of evidence supports the idea that eye gaze facilitates infants’ learning by enhancing their arousal, memory and attentional capacities to a greater extent than other low-level attentional cues. However, as yet, there are too few studies that directly compare the effect of eye gaze cues and non-social, attentional cues for strong conclusions to be drawn. We also suggest there might be a developmental effect, with eye gaze, over the course of the first two years of life, developing into a truly ostensive cue that enhances language learning across the board.

    Additional information

    data sheet
  • Chan, A., Matthews, S., Tse, N., Lam, A., Chang, F., & Kidd, E. (2021). Revisiting Subject–Object Asymmetry in the Production of Cantonese Relative Clauses: Evidence From Elicited Production in 3-Year-Olds. Frontiers in Psychology, 12: 679008. doi:10.3389/fpsyg.2021.679008.

    Abstract

    Emergentist approaches to language acquisition identify a core role for language-specific experience and give primacy to other factors like function and domain-general learning mechanisms in syntactic development. This directly contrasts with a nativist structurally oriented approach, which predicts that grammatical development is guided by Universal Grammar and that structural factors constrain acquisition. Cantonese relative clauses (RCs) offer a good opportunity to test these perspectives because its typologically rare properties decouple the roles of frequency and complexity in subject- and object-RCs in a way not possible in European languages. Specifically, Cantonese object RCs of the classifier type are frequently attested in children’s linguistic experience and are isomorphic to frequent and early-acquired simple SVO transitive clauses, but according to formal grammatical analyses Cantonese subject RCs are computationally less demanding to process. Thus, the two opposing theories make different predictions: the emergentist approach predicts a specific preference for object RCs of the classifier type, whereas the structurally oriented approach predicts a subject advantage. In the current study we revisited this issue. Eighty-seven monolingual Cantonese children aged between 3;2 and 3;11 (Mage: 3;6) participated in an elicited production task designed to elicit production of subject- and object- RCs. The children were very young and most of them produced only noun phrases when RCs were elicited. Those (nine children) who did produce RCs produced overwhelmingly more object RCs than subject RCs, even when animacy cues were controlled. The majority of object RCs produced were the frequent classifier-type RCs. The findings concur with our hypothesis from the emergentist perspectives that input frequency and formal and functional similarity to known structures guide acquisition.
  • Chan, R. W., Alday, P. M., Zou-Williams, L., Lushington, K., Schlesewsky, M., Bornkessel-Schlesewsky, I., & Immink, M. A. (2020). Focused-attention meditation increases cognitive control during motor sequence performance: Evidence from the N2 cortical evoked potential. Behavioural Brain Research, 384: 112536. doi:10.1016/j.bbr.2020.112536.

    Abstract

    Previous work found that single-session focused attention meditation (FAM) enhanced motor sequence learning through increased cognitive control as a mechanistic action, although electrophysiological correlates of sequence learning performance following FAM were not investigated. We measured the persistent frontal N2 event-related potential (ERP) that is closely related to cognitive control processes and its ability to predict behavioural measures. Twenty-nine participants were randomised to one of three conditions reflecting the level of FAM experienced prior to a serial reaction time task (SRTT): 21 sessions of FAM (FAM21, N = 12), a single FAM session (FAM1, N = 9) or no preceding FAM control (Control, N = 8). Continuous 64-channel EEG were recorded during SRTT and N2 amplitudes for correct trials were extracted. Component amplitude, regions of interests, and behavioural outcomes were compared using mixed effects regression models between groups. FAM21 exhibited faster reaction time performances in majority of the learning blocks compared to FAM1 and Control. FAM21 also demonstrated a significantly more pronounced N2 over majority of anterior and central regions of interests during SRTT compared to the other groups. When N2 amplitudes were modelled against general learning performance, FAM21 showed the greatest rate of amplitude decline over anterior and central regions. The combined results suggest that FAM training provided greater cognitive control enhancement for improved general performance, and less pronounced effects for sequence-specific learning performance compared to the other groups. Importantly, FAM training facilitates dynamic modulation of cognitive control: lower levels of general learning performance was supported by greater levels of activation, whilst higher levels of general learning exhibited less activation.
  • Chan, A., Yang, W., Chang, F., & Kidd, E. (2018). Four-year-old Cantonese-speaking children's online processing of relative clauses: A permutation analysis. Journal of Child Language, 45(1), 174-203. doi:10.1017/s0305000917000198.

    Abstract


    We report on an eye-tracking study that investigated four-year-old Cantonese-speaking children's online processing of subject and object relative clauses (RCs). Children's eye-movements were recorded as they listened to RC structures identifying a unique referent (e.g. “Can you pick up the horse that pushed the pig?”). Two RC types, classifier (CL) and ge3 RCs, were tested in a between-participants design. The two RC types differ in their syntactic analyses and frequency of occurrence, providing an important point of comparison for theories of RC acquisition and processing. A permutation analysis showed that the two structures were processed differently: CL RCs showed a significant object-over-subject advantage, whereas ge3 RCs showed the opposite effect. This study shows that children can have different preferences even for two very similar RC structures within the same language, suggesting that syntactic processing preferences are shaped by the unique features of particular constructions both within and across different linguistic typologies.
  • Chen, C.-h., Zhang, Y., & Yu, C. (2018). Learning object names at different hierarchical levels using cross-situational statistics. Cognitive Science, 42(S2), 591-605. doi:10.1111/cogs.12516.

    Abstract

    Objects in the world usually have names at different hierarchical levels (e.g., beagle, dog, animal). This research investigates adults' ability to use cross-situational statistics to simultaneously learn object labels at individual and category levels. The results revealed that adults were able to use co-occurrence information to learn hierarchical labels in contexts where the labels for individual objects and labels for categories were presented in completely separated blocks, in interleaved blocks, or mixed in the same trial. Temporal presentation schedules significantly affected the learning of individual object labels, but not the learning of category labels. Learners' subsequent generalization of category labels indicated sensitivity to the structure of statistical input.
  • Chen, A., Gussenhoven, C., & Rietveld, T. (2004). Language specificity in perception of paralinguistic intonational meaning. Language and Speech, 47(4), 311-349.

    Abstract

    This study examines the perception of paralinguistic intonational meanings deriving from Ohala’s Frequency Code (Experiment 1) and Gussenhoven’s Effort Code (Experiment 2) in British English and Dutch. Native speakers of British English and Dutch listened to a number of stimuli in their native language and judged each stimulus on four semantic scales deriving from these two codes: SELF-CONFIDENT versus NOT SELF-CONFIDENT, FRIENDLY versus NOT FRIENDLY (Frequency Code); SURPRISED versus NOT SURPRISED, and EMPHATIC versus NOT EMPHATIC (Effort Code). The stimuli, which were lexically equivalent across the two languages, differed in pitch contour, pitch register and pitch span in Experiment 1, and in pitch register, peak height, peak alignment and end pitch in Experiment 2. Contrary to the traditional view that the paralinguistic usage of intonation is similar across languages, it was found that British English and Dutch listeners differed considerably in the perception of “confident,” “friendly,” “emphatic,” and “surprised.” The present findings support a theory of paralinguistic meaning based on the universality of biological codes, which however acknowledges a languagespecific component in the implementation of these codes.
  • Cho, T. (2004). Prosodically conditioned strengthening and vowel-to-vowel coarticulation in English. Journal of Phonetics, 32(2), 141-176. doi:10.1016/S0095-4470(03)00043-3.

    Abstract

    The goal of this study is to examine how the degree of vowel-to-vowel coarticulation varies as a function of prosodic factors such as nuclear-pitch accent (accented vs. unaccented), level of prosodic boundary (Prosodic Word vs. Intermediate Phrase vs. Intonational Phrase), and position-in-prosodic-domain (initial vs. final). It is hypothesized that vowels in prosodically stronger locations (e.g., in accented syllables and at a higher prosodic boundary) are not only coarticulated less with their neighboring vowels, but they also exert a stronger influence on their neighbors. Measurements of tongue position for English /a i/ over time were obtained with Carsten’s electromagnetic articulography. Results showed that vowels in prosodically stronger locations are coarticulated less with neighboring vowels, but do not exert a stronger influence on the articulation of neighboring vowels. An examination of the relationship between coarticulation and duration revealed that (a) accent-induced coarticulatory variation cannot be attributed to a duration factor and (b) some of the data with respect to boundary effects may be accounted for by the duration factor. This suggests that to the extent that prosodically conditioned coarticulatory variation is duration-independent, there is no absolute causal relationship from duration to coarticulation. It is proposed that prosodically conditioned V-to-V coarticulatory reduction is another type of strengthening that occurs in prosodically strong locations. The prosodically driven coarticulatory patterning is taken to be part of the phonetic signatures of the hierarchically nested structure of prosody.
  • Choi, J., Broersma, M., & Cutler, A. (2018). Phonetic learning is not enhanced by sequential exposure to more than one language. Linguistic Research, 35(3), 567-581. doi:10.17250/khisli.35.3.201812.006.

    Abstract

    Several studies have documented that international adoptees, who in early years have
    experienced a change from a language used in their birth country to a new language
    in an adoptive country, benefit from the limited early exposure to the birth language
    when relearning that language’s sounds later in life. The adoptees’ relearning advantages
    have been argued to be conferred by lasting birth-language knowledge obtained from
    the early exposure. However, it is also plausible to assume that the advantages may
    arise from adoptees’ superior ability to learn language sounds in general, as a result
    of their unusual linguistic experience, i.e., exposure to multiple languages in sequence
    early in life. If this is the case, then the adoptees’ relearning benefits should generalize
    to previously unheard language sounds, rather than be limited to their birth-language
    sounds. In the present study, adult Korean adoptees in the Netherlands and matched
    Dutch-native controls were trained on identifying a Japanese length distinction to which
    they had never been exposed before. The adoptees and Dutch controls did not differ
    on any test carried out before, during, or after the training, indicating that observed
    adoptee advantages for birth-language relearning do not generalize to novel, previously
    unheard language sounds. The finding thus fails to support the suggestion that
    birth-language relearning advantages may arise from enhanced ability to learn language
    sounds in general conferred by early experience in multiple languages. Rather, our
    finding supports the original contention that such advantages involve memory traces
    obtained before adoption
  • Cholin, J., Schiller, N. O., & Levelt, W. J. M. (2004). The preparation of syllables in speech production. Journal of Memory and Language, 50(1), 47-61. doi:10.1016/j.jml.2003.08.003.

    Abstract

    Models of speech production assume that syllables play a functional role in the process of word-form encoding in speech production. In this study, we investigate this claim and specifically provide evidence about the level at which syllables come into play. We report two studies using an odd-man-out variant of the implicit priming paradigm to examine the role of the syllable during the process of word formation. Our results show that this modified version of the implicit priming paradigm can trace the emergence of syllabic structure during spoken word generation. Comparing these results to prior syllable priming studies, we conclude that syllables emerge at the interface between phonological and phonetic encoding. The results are discussed in terms of the WEAVER++ model of lexical access.
  • Chwilla, D., Hagoort, P., & Brown, C. M. (1998). The mechanism underlying backward priming in a lexical decision task: Spreading activation versus semantic matching. Quarterly Journal of Experimental Psychology, 51A(3), 531-560. doi:10.1080/713755773.

    Abstract

    Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.
  • Claus, A. (2004). Access management system. Language Archive Newsletter, 1(2), 5.
  • Clough, S., & Hilverman, C. (2018). Hand gestures and how they help children learn. Frontiers for Young Minds, 6: 29. doi:10.3389/frym.2018.00029.

    Abstract

    When we talk, we often make hand movements called gestures at the same time. Although just about everyone gestures when they talk, we usually do not even notice the gestures. Our hand gestures play an important role in helping us learn and remember! When we see other people gesturing when they talk—or when we gesture when we talk ourselves—we are more likely to remember the information being talked about than if gestures were not involved. Our hand gestures can even indicate when we are ready to learn new things! In this article, we explain how gestures can help learning. To investigate this, we studied children learning a new mathematical concept called equivalence. We hope that this article will help you notice when you, your friends and family, and your teachers are gesturing, and that it will help you understand how those gestures can help people learn.
  • Clough, S., & Gordon, J. K. (2020). Fluent or nonfluent? Part A. Underlying contributors to categorical classifications of fluency in aphasia. Aphasiology, 34(5), 515-539. doi:10.1080/02687038.2020.1727709.

    Abstract

    Background: The concept of fluency is widely used to dichotomously classify aphasia syndromes in both research and clinical practice. Despite its ubiquity, reliability of fluency measurement is reduced due to its multi-dimensional nature and the variety of methods used to measure it.
    Aims: The primary aim of the study was to determine what factors contribute to judgements of fluency in aphasia, identifying methodological and linguistic sources of disagreement.
    Methods & Procedures: We compared fluency classifications generated according to fluency scores on the revised Western Aphasia Battery (WAB-R) to clinical impressions of fluency for 254 English-speaking people with aphasia (PwA) from the AphasiaBank database. To determine what contributed to fluency classifications, we examined syndrome diagnoses and measured the predictive strength of 18 spontaneous speech variables extracted from retellings of the Cinderella story. The variables were selected to represent three dimensions predicted to underlie fluency: grammatical competence, lexical retrieval, and the facility of speech production.
    Outcomes & Results: WAB-R fluency classifications agreed with 83% of clinician classifications, although agreement was much greater for fluent than nonfluent classifications. The majority of mismatches were diagnosed with anomic or conduction aphasia by the WAB-R but Broca's aphasia by clinicians. Modifying the WAB-R scale improved the extent to which WAB-R fluency categories matched clinical impressions. Fluency classifications were predicted by a combination of variables, including aspects of grammaticality, lexical retrieval and speech production. However, fluency classification by WAB-R was largely predicted by severity, whereas the presence or absence of apraxia of speech was the largest predictor of fluency classifications by clinicians.
    Conclusions: Fluency judgements according to WAB-R scoring and those according to clinical impression showed some common influences, but also some differences that contributed to mismatches in fluency categorization. We propose that, rather than using dichotomous fluency categories, which can mask sources of disagreement, fluency should be explicitly identified relative to the underlying deficits (word-finding, grammatical formulation, speech production, or a combination) contributing to each individual PwA's fluency profile. Identifying what contributes to fluency disruptions is likely to generate more reliable diagnoses and provide more concrete guidance regarding therapy, avenues we are pursuing in ongoing research.
  • Clough, S., & Duff, M. C. (2020). The role of gesture in communication and cognition: Implications for understanding and treating neurogenic communication disorders. Frontiers in Human Neuroscience, 14: 323. doi:10.3389/fnhum.2020.00323.

    Abstract

    When people talk, they gesture. Gesture is a fundamental component of language that contributes meaningful and unique information to a spoken message and reflects the speaker's underlying knowledge and experiences. Theoretical perspectives of speech and gesture propose that they share a common conceptual origin and have a tightly integrated relationship, overlapping in time, meaning, and function to enrich the communicative context. We review a robust literature from the field of psychology documenting the benefits of gesture for communication for both speakers and listeners, as well as its important cognitive functions for organizing spoken language, and facilitating problem-solving, learning, and memory. Despite this evidence, gesture has been relatively understudied in populations with neurogenic communication disorders. While few studies have examined the rehabilitative potential of gesture in these populations, others have ignored gesture entirely or even discouraged its use. We review the literature characterizing gesture production and its role in intervention for people with aphasia, as well as describe the much sparser literature on gesture in cognitive communication disorders including right hemisphere damage, traumatic brain injury, and Alzheimer's disease. The neuroanatomical and behavioral profiles of these patient populations provide a unique opportunity to test theories of the relationship of speech and gesture and advance our understanding of their neural correlates. This review highlights several gaps in the field of communication disorders which may serve as a bridge for applying the psychological literature of gesture to the study of language disorders. Such future work would benefit from considering theoretical perspectives of gesture and using more rigorous and quantitative empirical methods in its approaches. We discuss implications for leveraging gesture to explore its untapped potential in understanding and rehabilitating neurogenic communication disorders.
  • Cohen, E., Van Leeuwen, E. J. C., Barbosa, A., & Haun, D. B. M. (2021). Does accent trump skin color in guiding children’s social preferences? Evidence from Brazil’s natural lab. Cognitive Development, 60: 101111. doi:10.1016/j.cogdev.2021.101111.

    Abstract

    Previous research has shown significant effects of race and accent on children’s developing social preferences. Accounts of the primacy of accent biases in the evolution and ontogeny of discriminant cooperation have been proposed, but lack systematic cross-cultural investigation. We report three controlled studies conducted with 5−10 year old children across four towns in the Brazilian Amazon, selected for their variation in racial and accent homogeneity/heterogeneity. Study 1 investigated participants’ (N = 289) decisions about friendship and sharing across color-contrasted pairs of target individuals: Black-White, Black-Pardo (Brown), Pardo-White. Study 2 (N = 283) investigated effects of both color and accent (Local vs Non-Local) on friendship and sharing decisions. Overall, there was a significant bias toward the lighter colored individual. A significant preference for local accent mitigates but does not override the color bias, except in the site characterized by both racial and accent heterogeneity. Results also vary by participant age and color. Study 3 (N = 235) reports results of an accent discrimination task that shows an overall increase in accuracy with age. The research suggests that cooperative preferences based on accent and race develop differently in response to locally relevant parameters of racial and linguistic variation.
  • Connaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Snijders Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.-H.-W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T. M. and 79 moreConnaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Snijders Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.-H.-W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T. M., Majmundar, A. J., Buerger, F., Onuchic-Whitford, A. C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Van der Ven, A. T., Rao, J., Ityel, H., Seltzsam, S., Rieke, J. M., Chen, J., Vivante, A., Hwang, D.-Y., Kohl, S., Dworschak, G. C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S. B., Baum, M. A., Brilstra, E. H., Challman, T. D., Zyskind, J., Costin, C. E., Dipple, K. M., Duijkers, F. A., Ferguson, M., Fitzpatrick, D. R., Fick, R., Glass, I. A., Hulick, P. J., Kline, A. D., Krey, I., Kumar, S., Lu, W., Marco, E. J., Wentzensen, I. M., Mefford, H. C., Platzer, K., Povolotskaya, I. S., Savatt, J. M., Shcherbakova, N. V., Senguttuvan, P., Squire, A. E., Stein, D. R., Thiffault, I., Voinova, V. Y., Somers, M. J. G., Ferguson, M. A., Traum, A. Z., Daouk, G. H., Daga, A., Rodig, N. M., Terhal, P. A., Van Binsbergen, E., Eid, L. A., Tasic, V., Rasouly, H. M., Lim, T. Y., Ahram, D. F., Gharavi, A. G., Reutter, H. M., Rehm, H. L., MacArthur, D. G., Lek, M., Laricchia, K. M., Lifton, R. P., Xu, H., Mane, S. M., Sanna-Cherchi, S., Sharrocks, A. D., Raught, B., Fisher, S. E., Bouchard, M., Khokha, M. K., Shril, S., & Hildebrandt, F. (2020). Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations. The American Journal of Human Genetics, 107(4), 727-742. doi:10.1016/j.ajhg.2020.08.013.

    Abstract

    Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the discovery of dozens of monogenic causes of CAKUT, most pathogenic pathways remain elusive. We performed whole-exome sequencing (WES) in 551 individuals with CAKUT and identified a heterozygous de novo stop-gain variant in ZMYM2 in two different families with CAKUT. Through collaboration, we identified in total 14 different heterozygous loss-of-function mutations in ZMYM2 in 15 unrelated families. Most mutations occurred de novo, indicating possible interference with reproductive function. Human disease features are replicated in X. tropicalis larvae with morpholino knockdowns, in which expression of truncated ZMYM2 proteins, based on individual mutations, failed to rescue renal and craniofacial defects. Moreover, heterozygous Zmym2-deficient mice recapitulated features of CAKUT with high penetrance. The ZMYM2 protein is a component of a transcriptional corepressor complex recently linked to the silencing of developmentally regulated endogenous retrovirus elements. Using protein-protein interaction assays, we show that ZMYM2 interacts with additional epigenetic silencing complexes, as well as confirming that it binds to FOXP1, a transcription factor that has also been linked to CAKUT. In summary, our findings establish that loss-of-function mutations of ZMYM2, and potentially that of other proteins in its interactome, as causes of human CAKUT, offering new routes for studying the pathogenesis of the disorder.
  • Connine, C. M., Clifton, Jr., C., & Cutler, A. (1987). Effects of lexical stress on phonetic categorization. Phonetica, 44, 133-146.
  • Coopmans, C. W., & Schoenmakers, G.-J. (2020). Incremental structure building of preverbal PPs in Dutch. Linguistics in the Netherlands, 37(1), 38-52. doi:10.1075/avt.00036.coo.

    Abstract

    Incremental comprehension of head-final constructions can reveal structural attachment preferences for ambiguous phrases. This study investigates
    how temporarily ambiguous PPs are processed in Dutch verb-final constructions. In De aannemer heeft op het dakterras bespaard/gewerkt ‘The
    contractor has on the roof terrace saved/worked’, the PP is locally ambiguous between attachment as argument and as adjunct. This ambiguity is
    resolved by the sentence-final verb. In a self-paced reading task, we manipulated the argument/adjunct status of the PP, and its position relative to the
    verb. While we found no reading-time differences between argument and
    adjunct PPs, we did find that transitive verbs, for which the PP is an argument, were read more slowly than intransitive verbs, for which the PP is an adjunct. We suggest that Dutch parsers have a preference for adjunct attachment of preverbal PPs, and discuss our findings in terms of incremental
    parsing models that aim to minimize costly reanalysis.
  • Coopmans, C. W., & Nieuwland, M. S. (2020). Dissociating activation and integration of discourse referents: Evidence from ERPs and oscillations. Cortex, 126, 83-106. doi:10.1016/j.cortex.2019.12.028.

    Abstract

    A key challenge in understanding stories and conversations is the comprehension of ‘anaphora’, words that refer back to previously mentioned words or concepts (‘antecedents’). In psycholinguistic theories, anaphor comprehension involves the initial activation of the antecedent and its subsequent integration into the unfolding representation of the narrated event. A recent proposal suggests that these processes draw upon the brain’s recognition memory and language networks, respectively, and may be dissociable in patterns of neural oscillatory synchronization (Nieuwland & Martin, 2017). We addressed this proposal in an electroencephalogram (EEG) study with pre-registered data acquisition and analyses, using event-related potentials (ERPs) and neural oscillations. Dutch participants read two-sentence mini stories containing proper names, which were repeated or new (ease of activation) and semantically coherent or incoherent with the preceding discourse (ease of integration). Repeated names elicited lower N400 and Late Positive Component amplitude than new names, and also an increase in theta-band (4-7 Hz) synchronization, which was largest around 240-450 ms after name onset. Discourse-coherent names elicited an increase in gamma-band (60-80 Hz) synchronization compared to discourse-incoherent names. This effect was largest around 690-1000 ms after name onset and exploratory beamformer analysis suggested a left frontal source. We argue that the initial activation and subsequent discourse-level integration of referents can be dissociated with event-related EEG activity, and are associated with respectively theta- and gamma-band activity. These findings further establish the link between memory and language through neural oscillations.

    Additional information

    materials, data, and analysis scripts
  • Corcoran, A. W., Alday, P. M., Schlesewsky, M., & Bornkessel-Schlesewsky, I. (2018). Toward a reliable, automated method of individual alpha frequency (IAF) quantification. Psychophysiology, 55(7): e13064. doi:10.1111/psyp.13064.

    Abstract

    Individual alpha frequency (IAF) is a promising electrophysiological marker of interindividual differences in cognitive function. IAF has been linked with trait-like differences in information processing and general intelligence, and provides an empirical basis for the definition of individualized frequency bands. Despite its widespread application, however, there is little consensus on the optimal method for estimating IAF, and many common approaches are prone to bias and inconsistency. Here, we describe an automated strategy for deriving two of the most prevalent IAF estimators in the literature: peak alpha frequency (PAF) and center of gravity (CoG). These indices are calculated from resting-state power spectra that have been smoothed using a Savitzky-Golay filter (SGF). We evaluate the performance characteristics of this analysis procedure in both empirical and simulated EEG data sets. Applying the SGF technique to resting-state data from n = 63 healthy adults furnished 61 PAF and 62 CoG estimates. The statistical properties of these estimates were consistent with previous reports. Simulation analyses revealed that the SGF routine was able to reliably extract target alpha components, even under relatively noisy spectral conditions. The routine consistently outperformed a simpler method of automated peak detection that did not involve spectral smoothing. The SGF technique is fast, open source, and available in two popular programming languages (MATLAB, Python), and thus can easily be integrated within the most popular M/EEG toolsets (EEGLAB, FieldTrip, MNE-Python). As such, it affords a convenient tool for improving the reliability and replicability of future IAF-related research.

    Additional information

    psyp13064-sup-0001-s01.docx
  • Corps, R. E., Gambi, C., & Pickering, M. J. (2018). Coordinating utterances during turn-taking: The role of prediction, response preparation, and articulation. Discourse processes, 55(2, SI), 230-240. doi:10.1080/0163853X.2017.1330031.

    Abstract

    During conversation, interlocutors rapidly switch between speaker and listener
    roles and take turns at talk. How do they achieve such fine coordination?
    Most research has concentrated on the role of prediction, but listeners
    must also prepare a response in advance (assuming they wish to respond)
    and articulate this response at the appropriate moment. Such mechanisms
    may overlap with the processes of comprehending the speaker’s incoming
    turn and predicting its end. However, little is known about the stages of
    response preparation and production. We discuss three questions pertaining
    to such stages: (1) Do listeners prepare their own response in advance?,
    (2) Can listeners buffer their prepared response?, and (3) Does buffering
    lead to interference with concurrent comprehension? We argue that fine
    coordination requires more than just an accurate prediction of the interlocutor’s
    incoming turn: Listeners must also simultaneously prepare their own
    response.
  • Corps, R. E., Crossley, A., Gambi, C., & Pickering, M. J. (2018). Early preparation during turn-taking: Listeners use content predictions to determine what to say but not when to say it. Cognition, 175, 77-95. doi:10.1016/j.cognition.2018.01.015.

    Abstract

    During conversation, there is often little gap between interlocutors’ utterances. In two pairs of experiments, we manipulated the content predictability of yes/no questions to investigate whether listeners achieve such coordination by (i) preparing a response as early as possible or (ii) predicting the end of the speaker’s turn. To assess these two mechanisms, we varied the participants’ task: They either pressed a button when they thought the question was about to end (Experiments 1a and 2a), or verbally answered the questions with either yes or no (Experiments 1b and 2b). Predictability effects were present when participants had to prepare a verbal response, but not when they had to predict the turn-end. These findings suggest content prediction facilitates turn-taking because it allows listeners to prepare their own response early, rather than because it helps them predict when the speaker will reach the end of their turn.

    Additional information

    Supplementary material
  • Corps, R. E., Gambi, C., & Pickering, M. J. (2020). How do listeners time response articulation when answering questions? The role of speech rate. Journal of Experimental Psychology: Learning, Memory, and Cognition, 46(4), 781-802. doi:10.1037/xlm0000759.

    Abstract

    During conversation, interlocutors often produce their utterances with little overlap or gap between their turns. But what mechanism underlies this striking ability to time articulation appropriately? In 2 verbal yes/no question-answering experiments, we investigated whether listeners use the speech rate of questions to time articulation of their answers. In Experiment 1, we orthogonally manipulated the speech rate of the context (e.g., Do you have a . . .) and final word (e.g., dog?) of questions using time-compression, so that each component was spoken at the natural rate or twice as a fast. Listeners responded earlier when the context was speeded rather than natural, suggesting they used the speaker’s context rate to time answer articulation. Additionally, listeners responded earlier when the speaker’s final syllable was speeded than natural, regardless of context rate, suggesting they adjusted the timing of articulation after listening to a single syllable produced at a different rate. We replicated this final word effect in Experiment 2, which also showed that our speech rate manipulation did not influence the timing of response preparation. Together, these findings suggest listeners use speech rate information to time articulation when answering questions
  • Corps, R. E., & Rabagliati, H. (2020). How top-down processing enhances comprehension of noise-vocoded speech: Predictions about meaning are more important than predictions about form. Journal of Memory and Language, 113: 104114. doi:10.1016/j.jml.2020.104114.

    Abstract

    Listeners quickly learn to understand speech that has been distorted, and this process is enhanced when comprehension is constrained by higher-level knowledge. In three experiments, we investigated whether this knowledge enhances comprehension of distorted speech because it allows listeners to predict (1) the meaning of the distorted utterance, or (2) the lower-level wordforms. Participants listened to question-answer sequences, in which questions were clearly-spoken but answers were noise-vocoded. Comprehension (Experiment 1) and learning (Experiment 2) were enhanced when listeners could use the question to predict the semantics of the distorted answer, but were not enhanced by predictions of answer form. Form predictions enhanced comprehension only when questions and answers were significantly separated by time and intervening linguistic material (Experiment 3). Together, these results suggest that high-level semantic predictions enhance comprehension and learning, with form predictions playing only a minimal role.
  • Costa, A., Cutler, A., & Sebastian-Galles, N. (1998). Effects of phoneme repertoire on phoneme decision. Perception and Psychophysics, 60, 1022-1031.

    Abstract

    In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.
  • Crago, M. B., Chen, C., Genesee, F., & Allen, S. E. M. (1998). Power and deference. Journal for a Just and Caring Education, 4(1), 78-95.
  • Creaghe, N., Quinn, S., & Kidd, E. (2021). Symbolic play provides a fertile context for language development. Infancy, 26(6), 980-1010. doi:10.1111/infa.12422.

    Abstract

    In this study we test the hypothesis that symbolic play represents a fertile context for language acquisition because its inherent ambiguity elicits communicative behaviours that positively influence development. Infant-caregiver dyads (N = 54) participated in two 20-minute play sessions six months apart (Time 1 = 18 months, Time 2 = 24 months). During each session the dyads played with two sets of toys that elicited either symbolic or functional play. The sessions were transcribed and coded for several features of dyadic interaction and speech; infants’ linguistic proficiency was measured via parental report. The two play contexts resulted in different communicative and linguistic behaviour. Notably, the symbolic play condition resulted in significantly greater conversational turn-taking than functional play, and also resulted in the greater use of questions and mimetics in infant-directed speech (IDS). In contrast, caregivers used more imperative clauses in functional play. Regression analyses showed that unique properties of symbolic play (i.e., turn-taking, yes-no questions, mimetics) positively predicted children’s language proficiency, whereas unique features of functional play (i.e., imperatives in IDS) negatively predicted proficiency. The results provide evidence in support of the hypothesis that symbolic play is a fertile context for language development, driven by the need to negotiate meaning.
  • Creemers, A., & Embick, D. (2021). Retrieving stem meanings in opaque words during auditory lexical processing. Language, Cognition and Neuroscience, 36(9), 1107-1122. doi:10.1080/23273798.2021.1909085.

    Abstract

    Recent constituent priming experiments show that Dutch and German prefixed verbs prime their stem, regardless of semantic transparency (e.g. Smolka et al. [(2014). ‘Verstehen’ (‘understand’) primes ‘stehen’ (‘stand’): Morphological structure overrides semantic compositionality in the lexical representation of German complex verbs. Journal of Memory and Language, 72, 16–36. https://doi.org/10.1016/j.jml.2013.12.002]). We examine whether the processing of opaque verbs (e.g. herhalen “repeat”) involves the retrieval of only the whole-word meaning, or whether the lexical-semantic meaning of the stem (halen as “take/get”) is retrieved as well. We report the results of an auditory semantic priming experiment with Dutch prefixed verbs, testing whether the recognition of a semantic associate to the stem (BRENGEN “bring”) is facilitated by the presentation of an opaque prefixed verb. In contrast to prior visual studies, significant facilitation after semantically opaque primes is found, which suggests that the lexical-semantic meaning of stems in opaque words is retrieved. We examine the implications that these findings have for auditory word recognition, and for the way in which different types of meanings are represented and processed.

    Additional information

    supplemental material
  • Creemers, A., Goodwin Davies, A., Wilder, R. J., Tamminga, M., & Embick, D. (2020). Opacity, transparency, and morphological priming: A study of prefixed verbs in Dutch. Journal of Memory and Language, 110: 104055. doi:10.1016/j.jml.2019.104055.

    Abstract

    A basic question for the study of the mental lexicon is whether there are morphological representations and processes that are independent of phonology and semantics. According to a prominent tradition, morphological relatedness requires semantic transparency: semantically transparent words are related in meaning to their stems, while semantically opaque words are not. This study examines the question of morphological relatedness using intra-modal auditory priming by Dutch prefixed verbs. The key conditions involve semantically transparent prefixed primes (e.g., aanbieden ‘offer’, with the stem bieden, also ‘offer’) and opaque primes (e.g., verbieden ‘forbid’). Results show robust facilitation for both transparent and opaque pairs; phonological (Experiment 1) and semantic (Experiment 2) controls rule out the possibility that these other types of relatedness are responsible for the observed priming effects. The finding of facilitation with opaque primes suggests that morphological processing is independent of semantic and phonological representations. Accordingly, the results are incompatible with theories that make semantic overlap a necessary condition for relatedness, and favor theories in which words may be related in ways that do not require shared meaning. The general discussion considers several specific proposals along these lines, and compares and contrasts questions about morphological relatedness of the type found here with the different but related question of whether there is morphological decomposition of complex forms or not.
  • Creemers, A., Don, J., & Fenger, P. (2018). Some affixes are roots, others are heads. Natural Language & Linguistic Theory, 36(1), 45-84. doi:10.1007/s11049-017-9372-1.

    Abstract

    A recent debate in the morphological literature concerns the status of derivational affixes. While some linguists (Marantz 1997, 2001; Marvin 2003) consider derivational affixes a type of functional morpheme that realizes a categorial head, others (Lowenstamm 2015; De Belder 2011) argue that derivational affixes are roots. Our proposal, which finds its empirical basis in a study of Dutch derivational affixes, takes a middle position. We argue that there are two types of derivational affixes: some that are roots (i.e. lexical morphemes) and others that are categorial heads (i.e. functional morphemes). Affixes that are roots show ‘flexible’ categorial behavior, are subject to ‘lexical’ phonological rules, and may trigger idiosyncratic meanings. Affixes that realize categorial heads, on the other hand, are categorially rigid, do not trigger ‘lexical’ phonological rules nor allow for idiosyncrasies in their interpretation.
  • Cristia, A., Lavechin, M., Scaff, C., Soderstrom, M., Rowland, C. F., Räsänen, O., Bunce, J., & Bergelson, E. (2021). A thorough evaluation of the Language Environment Analysis (LENA) system. Behavior Research Methods, 53, 467-486. doi:10.3758/s13428-020-01393-5.

    Abstract

    In the previous decade, dozens of studies involving thousands of children across several research disciplines have made use of a combined daylong audio-recorder and automated algorithmic analysis called the LENAⓇ system, which aims to assess children’s language environment. While the system’s prevalence in the language acquisition domain is steadily growing, there are only scattered validation efforts on only some of its key characteristics. Here, we assess the LENAⓇ system’s accuracy across all of its key measures: speaker classification, Child Vocalization Counts (CVC), Conversational Turn Counts (CTC), and Adult Word Counts (AWC). Our assessment is based on manual annotation of clips that have been randomly or periodically sampled out of daylong recordings, collected from (a) populations similar to the system’s original training data (North American English-learning children aged 3-36 months), (b) children learning another dialect of English (UK), and (c) slightly older children growing up in a different linguistic and socio-cultural setting (Tsimane’ learners in rural Bolivia). We find reasonably high accuracy in some measures (AWC, CVC), with more problematic levels of performance in others (CTC, precision of male adults and other children). Statistical analyses do not support the view that performance is worse for children who are dissimilar from the LENAⓇ original training set. Whether LENAⓇ results are accurate enough for a given research, educational, or clinical application depends largely on the specifics at hand. We therefore conclude with a set of recommendations to help researchers make this determination for their goals.
  • Croijmans, I., Hendrickx, I., Lefever, E., Majid, A., & Van den Bosch, A. (2020). Uncovering the language of wine experts. Natural Language Engineering, 26(5), 511-530. doi:10.1017/S1351324919000500.

    Abstract

    Talking about odors and flavors is difficult for most people, yet experts appear to be able to convey critical information about wines in their reviews. This seems to be a contradiction, and wine expert descriptions are frequently received with criticism. Here, we propose a method for probing the language of wine reviews, and thus offer a means to enhance current vocabularies, and as a by-product question the general assumption that wine reviews are gibberish. By means of two different quantitative analyses—support vector machines for classification and Termhood analysis—on a corpus of online wine reviews, we tested whether wine reviews are written in a consistent manner, and thus may be considered informative; and whether reviews feature domain-specific language. First, a classification paradigm was trained on wine reviews from one set of authors for which the color, grape variety, and origin of a wine were known, and subsequently tested on data from a new author. This analysis revealed that, regardless of individual differences in vocabulary preferences, color and grape variety were predicted with high accuracy. Second, using Termhood as a measure of how words are used in wine reviews in a domain-specific manner compared to other genres in English, a list of 146 wine-specific terms was uncovered. These words were compared to existing lists of wine vocabulary that are currently used to train experts. Some overlap was observed, but there were also gaps revealed in the extant lists, suggesting these lists could be improved by our automatic analysis.
  • Cross, Z. R., Santamaria, A., Corcoran, A. W., Chatburn, A., Alday, P. M., Coussens, S., & Kohler, M. J. (2020). Individual alpha frequency modulates sleep-related emotional memory consolidation. Neuropsychologia, 148: 107660. doi:10.1016/j.neuropsychologia.2020.107660.

    Abstract

    Alpha-band oscillatory activity is involved in modulating memory and attention. However, few studies have investigated individual differences in oscillatory activity during the encoding of emotional memory, particularly in sleep paradigms where sleep is thought to play an active role in memory consolidation. The current study aimed to address the question of whether individual alpha frequency (IAF) modulates the consolidation of declarative memory across periods of sleep and wake. 22 participants aged 18 – 41 years (mean age = 25.77) viewed 120 emotionally valenced images (positive, negative, neutral) and completed a baseline memory task before a 2hr afternoon sleep opportunity and an equivalent period of wake. Following the sleep and wake conditions, participants were required to distinguish between 120 learned (target) images and 120 new (distractor) images. This method allowed us to delineate the role of different oscillatory components of sleep and wake states in the emotional modulation of memory. Linear mixed-effects models revealed interactions between IAF, rapid eye movement sleep theta power, and slow-wave sleep slow oscillatory density on memory outcomes. These results highlight the importance of individual factors in the EEG in modulating oscillatory-related memory consolidation and subsequent behavioural outcomes and test predictions proposed by models of sleep-based memory consolidation.

    Additional information

    supplementary data
  • Croxson, P., Forkel, S. J., Cerliani, L., & Thiebaut De Schotten, M. (2018). Structural Variability Across the Primate Brain: A Cross-Species Comparison. Cerebral Cortex, 28(11), 3829-3841. doi:10.1093/cercor/bhx244.

    Abstract

    A large amount of variability exists across human brains; revealed initially on a small scale by postmortem studies and,
    more recently, on a larger scale with the advent of neuroimaging. Here we compared structural variability between human
    and macaque monkey brains using grey and white matter magnetic resonance imaging measures. The monkey brain was
    overall structurally as variable as the human brain, but variability had a distinct distribution pattern, with some key areas
    showing high variability. We also report the first evidence of a relationship between anatomical variability and evolutionary
    expansion in the primate brain. This suggests a relationship between variability and stability, where areas of low variability
    may have evolved less recently and have more stability, while areas of high variability may have evolved more recently and
    be less similar across individuals. We showed specific differences between the species in key areas, including the amount of
    hemispheric asymmetry in variability, which was left-lateralized in the human brain across several phylogenetically recent
    regions. This suggests that cerebral variability may be another useful measure for comparison between species and may add
    another dimension to our understanding of evolutionary mechanisms.
  • Cuellar-Partida, G., Tung, J. Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O. A., Barroso, I., Beckmann, J. S., Boks, M. P., Boomsma, D. I., Boyd, H. A., Breteler, M. M. B., Campbell, H., Chasman, D. I., Cherkas, L. F., Davies, G., De Geus, E. J. C., Deary, I. J., Deloukas, P., Dick, D. M. and 98 moreCuellar-Partida, G., Tung, J. Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O. A., Barroso, I., Beckmann, J. S., Boks, M. P., Boomsma, D. I., Boyd, H. A., Breteler, M. M. B., Campbell, H., Chasman, D. I., Cherkas, L. F., Davies, G., De Geus, E. J. C., Deary, I. J., Deloukas, P., Dick, D. M., Duffy, D. L., Eriksson, J. G., Esko, T., Feenstra, B., Geller, F., Gieger, C., Giegling, I., Gordon, S. D., Han, J., Hansen, T. F., Hartmann, A. M., Hayward, C., Heikkilä, K., Hicks, A. A., Hirschhorn, J. N., Hottenga, J.-J., Huffman, J. E., Hwang, L.-D., Ikram, M. A., Kaprio, J., Kemp, J. P., Khaw, K.-T., Klopp, N., Konte, B., Kutalik, Z., Lahti, J., Li, X., Loos, R. J. F., Luciano, M., Magnusson, S. H., Mangino, M., Marques-Vidal, P., Martin, N. G., McArdle, W. L., McCarthy, M. I., Medina-Gomez, C., Melbye, M., Melville, S. A., Metspalu, A., Milani, L., Mooser, V., Nelis, M., Nyholt, D. R., O'Connell, K. S., Ophoff, R. A., Palmer, C., Palotie, A., Palviainen, T., Pare, G., Paternoster, L., Peltonen, L., Penninx, B. W. J. H., Polasek, O., Pramstaller, P. P., Prokopenko, I., Raikkonen, K., Ripatti, S., Rivadeneira, F., Rudan, I., Rujescu, D., Smit, J. H., Smith, G. D., Smoller, J. W., Soranzo, N., Spector, T. D., St Pourcain, B., Starr, J. M., Stefánsson, H., Steinberg, S., Teder-Laving, M., Thorleifsson, G., Stefansson, K., Timpson, N. J., Uitterlinden, A. G., Van Duijn, C. M., Van Rooij, F. J. A., Vink, J. M., Vollenweider, P., Vuoksimaa, E., Waeber, G., Wareham, N. J., Warrington, N., Waterworth, D., Werge, T., Wichmann, H.-E., Widen, E., Willemsen, G., Wright, A. F., Wright, M. J., Xu, M., Zhao, J. H., Kraft, P., Hinds, D. A., Lindgren, C. M., Magi, R., Neale, B. M., Evans, D. M., & Medland, S. E. (2021). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour, 5, 59-70. doi:10.1038/s41562-020-00956-y.

    Abstract

    Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10−8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.

    Additional information

    supplementary tables
  • Cutler, A., Weber, A., Smits, R., & Cooper, N. (2004). Patterns of English phoneme confusions by native and non-native listeners. Journal of the Acoustical Society of America, 116(6), 3668-3678. doi:10.1121/1.1810292.

    Abstract

    Native American English and non-native(Dutch)listeners identified either the consonant or the vowel in all possible American English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios(0, 8, and 16 dB). The phoneme identification
    performance of the non-native listeners was less accurate than that of the native listeners. All listeners were adversely affected by noise. With these isolated syllables, initial segments were harder to identify than final segments. Crucially, the effects of language background and noise did not interact; the performance asymmetry between the native and non-native groups was not significantly different across signal-to-noise ratios. It is concluded that the frequently reported disproportionate difficulty of non-native listening under disadvantageous conditions is not due to a disproportionate increase in phoneme misidentifications.
  • Cutler, A. (2004). On spoken-word recognition in a second language. Newsletter, American Association of Teachers of Slavic and East European Languages, 47, 15-15.
  • Cutler, A., Aslin, R. N., Gervain, J., & Nespor, M. (Eds.). (2021). Special issue in honor of Jacques Mehler, Cognition's founding editor [Special Issue]. Cognition, 213.
  • Cutler, A., Aslin, R. N., Gervain, J., & Nespor, M. (2021). Special issue in honor of Jacques Mehler, Cognition's founding editor [preface]. Cognition, 213: 104786. doi:10.1016/j.cognition.2021.104786.
  • Ip, M. H. K., & Cutler, A. (2020). Universals of listening: Equivalent prosodic entrainment in tone and non-tone languages. Cognition, 202: 104311. doi:10.1016/j.cognition.2020.104311.

    Abstract

    In English and Dutch, listeners entrain to prosodic contours to predict where focus will fall in an utterance. Here, we ask whether this strategy is universally available, even in languages with very different phonological systems (e.g., tone versus non-tone languages). In a phoneme detection experiment, we examined whether prosodic entrainment also occurs in Mandarin Chinese, a tone language, where the use of various suprasegmental cues to lexical identity may take precedence over their use in salience. Consistent with the results from Germanic languages, response times were facilitated when preceding intonation predicted high stress on the target-bearing word, and the lexical tone of the target word (i.e., rising versus falling) did not affect the Mandarin listeners' response. Further, the extent to which prosodic entrainment was used to detect the target phoneme was the same in both English and Mandarin listeners. Nevertheless, native Mandarin speakers did not adopt an entrainment strategy when the sentences were presented in English, consistent with the suggestion that L2 listening may be strained by additional functional load from prosodic processing. These findings have implications for how universal and language-specific mechanisms interact in the perception of focus structure in everyday discourse.

    Additional information

    supplementary data
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1983). A language-specific comprehension strategy [Letters to Nature]. Nature, 304, 159-160. doi:10.1038/304159a0.

    Abstract

    Infants acquire whatever language is spoken in the environment into which they are born. The mental capability of the newborn child is not biased in any way towards the acquisition of one human language rather than another. Because psychologists who attempt to model the process of language comprehension are interested in the structure of the human mind, rather than in the properties of individual languages, strategies which they incorporate in their models are presumed to be universal, not language-specific. In other words, strategies of comprehension are presumed to be characteristic of the human language processing system, rather than, say, the French, English, or Igbo language processing systems. We report here, however, on a comprehension strategy which appears to be used by native speakers of French but not by native speakers of English.
  • Cutler, A., Norris, D., & Williams, J. (1987). A note on the role of phonological expectations in speech segmentation. Journal of Memory and Language, 26, 480-487. doi:10.1016/0749-596X(87)90103-3.

    Abstract

    Word-initial CVC syllables are detected faster in words beginning consonant-vowel-consonant-vowel (CVCV-) than in words beginning consonant-vowel-consonant-consonant (CVCC-). This effect was reported independently by M. Taft and G. Hambly (1985, Journal of Memory and Language, 24, 320–335) and by A. Cutler, J. Mehler, D. Norris, and J. Segui (1986, Journal of Memory and Language, 25, 385–400). Taft and Hambly explained the effect in terms of lexical factors. This explanation cannot account for Cutler et al.'s results, in which the effect also appeared with nonwords and foreign words. Cutler et al. suggested that CVCV-sequences might simply be easier to perceive than CVCC-sequences. The present study confirms this suggestion, and explains it as a reflection of listener expectations constructed on the basis of distributional characteristics of the language.
  • Cutler, A. (1985). Cross-language psycholinguistics. Linguistics, 23, 659-667.
  • Cutler, A. (1982). Idioms: the older the colder. Linguistic Inquiry, 13(2), 317-320. Retrieved from http://www.jstor.org/stable/4178278?origin=JSTOR-pdf.
  • Cutler, A., & Fay, D. A. (1982). One mental lexicon, phonologically arranged: Comments on Hurford’s comments. Linguistic Inquiry, 13, 107-113. Retrieved from http://www.jstor.org/stable/4178262.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1987). Phoneme identification and the lexicon. Cognitive Psychology, 19, 141-177. doi:10.1016/0010-0285(87)90010-7.
  • Cutler, A., & Ladd, D. R. (Eds.). (1983). Prosody: Models and measurements. Heidelberg: Springer.
  • Cutler, A. (Ed.). (1982). Slips of the tongue and language production. The Hague: Mouton.
  • Cutler, A. (1982). Speech errors: A classified bibliography. Bloomington: Indiana University Linguistics Club.
  • Cutler, A., Butterfield, S., & Williams, J. (1987). The perceptual integrity of syllabic onsets. Journal of Memory and Language, 26, 406-418. doi:10.1016/0749-596X(87)90099-4.
  • Cutler, A., & Carter, D. (1987). The predominance of strong initial syllables in the English vocabulary. Computer Speech and Language, 2, 133-142. doi:10.1016/0885-2308(87)90004-0.

    Abstract

    Studies of human speech processing have provided evidence for a segmentation strategy in the perception of continuous speech, whereby a word boundary is postulated, and a lexical access procedure initiated, at each metrically strong syllable. The likely success of this strategy was here estimated against the characteristics of the English vocabulary. Two computerized dictionaries were found to list approximately three times as many words beginning with strong syllables (i.e. syllables containing a full vowel) as beginning with weak syllables (i.e. syllables containing a reduced vowel). Consideration of frequency of lexical word occurrence reveals that words beginning with strong syllables occur on average more often than words beginning with weak syllables. Together, these findings motivate an estimate for everyday speech recognition that approximately 85% of lexical words (i.e. excluding function words) will begin with strong syllables. This estimate was tested against a corpus of 190 000 words of spontaneous British English conversion. In this corpus, 90% of lexical words were found to begin with strong syllables. This suggests that a strategy of postulating word boundaries at the onset of strong syllables would have a high success rate in that few actual lexical word onsets would be missed.
  • Cutler, A., Hawkins, J. A., & Gilligan, G. (1985). The suffixing preference: A processing explanation. Linguistics, 23, 723-758.
  • Cutler, A. (1987). The task of the speaker and the task of the hearer [Commentary/Sperber & Wilson: Relevance]. Behavioral and Brain Sciences, 10, 715-716.
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). Capitalization interacts with syntactic complexity. Journal of Experimental Psychology: Learning, Memory, and Cognition, 46(6), 1146-1164. doi:10.1037/xlm0000780.

    Abstract

    We investigated whether readers use the low-level cue of proper noun capitalization in the parafovea to infer syntactic category, and whether this results in an early update of the representation of a sentence’s syntactic structure. Participants read sentences containing either a subject relative or object relative clause, in which the relative clause’s overt argument was a proper noun (e.g., The tall lanky guard who alerted Charlie/Charlie alerted to the danger was young) across three experiments. In Experiment 1 these sentences were presented in normal sentence casing or entirely in upper case. In Experiment 2 participants received either valid or invalid parafoveal previews of the relative clause. In Experiment 3 participants viewed relative clauses in only normal conditions. We hypothesized that we would observe relative clause effects (i.e., inflated fixation times for object relative clauses) while readers were still fixated on the word who, if readers use capitalization to infer a parafoveal word’s syntactic class. This would constitute a syntactic parafoveal-on-foveal effect. Furthermore, we hypothesised that this effect should be influenced by sentence casing in Experiment 1 (with no cue for syntactic category being available in upper case sentences) but not by parafoveal preview validity of the target words. We observed syntactic parafoveal-on-foveal effects in Experiment 1 and 3, and a Bayesian analysis of the combined data from all three experiments. These effects seemed to be influenced more by noun capitalization than lexical processing. We discuss our findings in relation to models of eye movement control and sentence processing theories.
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). Readers detect an low-level phonological violation between two parafoveal words. Cognition, 204: 104395. doi:10.1016/j.cognition.2020.104395.

    Abstract

    In two eye-tracking studies we investigated whether readers can detect a violation of the phonological-grammatical convention for the indefinite article an to be followed by a word beginning with a vowel when these two words appear in the parafovea. Across two experiments participants read sentences in which the word an was followed by a parafoveal preview that was either correct (e.g. Icelandic), incorrect and represented a phonological violation (e.g. Mongolian), or incorrect without representing a phonological violation (e.g. Ethiopian), with this parafoveal preview changing to the target word as participants made a saccade into the space preceding an. Our data suggests that participants detected the phonological violation while the target word was still two words to the right of fixation, with participants making more regressions from the previewed word and having longer go-past times on this word when they received a violation preview as opposed to a non-violation preview. We argue that participants were attempting to perform aspects of sentence integration on the basis of low-level orthographic information from the previewed word.

    Additional information

    Data files and R Scripts
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). The activation of contextually predictable words in syntactically illegal positions. Quarterly Journal of Experimental Psychology, 73(9), 1423-1430. doi:10.1177/1747021820911021.

    Abstract

    We present an eye-tracking study testing a hypothesis emerging from several theories of prediction during language processing, whereby predictable words should be skipped more than unpredictable words even in syntactically illegal positions. Participants read sentences in which a target word became predictable by a certain point (e.g., “bone” is 92% predictable given, “The dog buried his. . .”), with the next word actually being an intensifier (e.g., “really”), which a noun cannot follow. The target noun remained predictable to appear later in the sentence. We used the boundary paradigm to present the predictable noun or an alternative unpredictable noun (e.g., “food”) directly after the intensifier, until participants moved beyond the intensifier, at which point the noun changed to a syntactically legal word. Participants also read sentences in which predictable or unpredictable nouns appeared in syntactically legal positions. A Bayesian linear-mixed model suggested a 5.7% predictability effect on skipping of nouns in syntactically legal positions, and a 3.1% predictability effect on skipping of nouns in illegal positions. We discuss our findings in relation to theories of lexical prediction during reading.

    Additional information

    OSF data
  • Cychosz, M., Cristia, A., Bergelson, E., Casillas, M., Baudet, G., Warlaumont, A. S., Scaff, C., Yankowitz, L., & Seidl, A. (2021). Vocal development in a large‐scale crosslinguistic corpus. Developmental Science, 24(5): e13090. doi:10.1111/desc.13090.

    Abstract

    This study evaluates whether early vocalizations develop in similar ways in children across diverse cultural contexts. We analyze data from daylong audio recordings of 49 children (1–36 months) from five different language/cultural backgrounds. Citizen scientists annotated these recordings to determine if child vocalizations contained canonical transitions or not (e.g., “ba” vs. “ee”). Results revealed that the proportion of clips reported to contain canonical transitions increased with age. Furthermore, this proportion exceeded 0.15 by around 7 months, replicating and extending previous findings on canonical vocalization development but using data from the natural environments of a culturally and linguistically diverse sample. This work explores how crowdsourcing can be used to annotate corpora, helping establish developmental milestones relevant to multiple languages and cultures. Lower inter‐annotator reliability on the crowdsourcing platform, relative to more traditional in‐lab expert annotators, means that a larger number of unique annotators and/or annotations are required, and that crowdsourcing may not be a suitable method for more fine‐grained annotation decisions. Audio clips used for this project are compiled into a large‐scale infant vocalization corpus that is available for other researchers to use in future work.

    Additional information

    supporting information audio data
  • Cychosz, M., Romeo, R., Soderstrom, M., Scaff, C., Ganek, H., Cristia, A., Casillas, M., De Barbaro, K., Bang, J. Y., & Weisleder, A. (2020). Longform recordings of everyday life: Ethics for best practices. Behavior Research Methods, 52, 1951-1969. doi:10.3758/s13428-020-01365-9.

    Abstract

    Recent advances in large-scale data storage and processing offer unprecedented opportunities for behavioral scientists to collect and analyze naturalistic data, including from under-represented groups. Audio data, particularly real-world audio recordings, are of particular interest to behavioral scientists because they provide high-fidelity access to subtle aspects of daily life and social interactions. However, these methodological advances pose novel risks to research participants and communities. In this article, we outline the benefits and challenges associated with collecting, analyzing, and sharing multi-hour audio recording data. Guided by the principles of autonomy, privacy, beneficence, and justice, we propose a set of ethical guidelines for the use of longform audio recordings in behavioral research. This article is also accompanied by an Open Science Framework Ethics Repository that includes informed consent resources such as frequent participant concerns and sample consent forms.
  • Dahan, D., & Tanenhaus, M. K. (2004). Continuous mapping from sound to meaning in spoken-language comprehension: Immediate effects of verb-based thematic constraints. Journal of Experimental Psychology: Learning, Memory, and Cognition, 30(2), 498-513. doi:10.1037/0278-7393.30.2.498.

    Abstract

    The authors used 2 “visual-world” eye-tracking experiments to examine lexical access using Dutch constructions in which the verb did or did not place semantic constraints on its subsequent subject noun phrase. In Experiment 1, fixations to the picture of a cohort competitor (overlapping with the onset of the referent’s name, the subject) did not differ from fixations to a distractor in the constraining-verb condition. In Experiment 2, cross-splicing introduced phonetic information that temporarily biased the input toward the cohort competitor. Fixations to the cohort competitor temporarily increased in both the neutral and constraining conditions. These results favor models in which mapping from the input onto meaning is continuous over models in which contextual effects follow access of an initial form-based competitor set.
  • Dai, B., Chen, C., Long, Y., Zheng, L., Zhao, H., Bai, X., Liu, W., Zhang, Y., Liu, L., Guo, T., Ding, G., & Lu, C. (2018). Neural mechanisms for selectively tuning into the target speaker in a naturalistic noisy situation. Nature Communications, 9: 2405. doi:10.1038/s41467-018-04819-z.

    Abstract

    The neural mechanism for selectively tuning in to a target speaker while tuning out the others in a multi-speaker situation (i.e., the cocktail-party effect) remains elusive. Here we addressed this issue by measuring brain activity simultaneously from a listener and from multiple speakers while they were involved in naturalistic conversations. Results consistently show selectively enhanced interpersonal neural synchronization (INS) between the listener and the attended speaker at left temporal–parietal junction, compared with that between the listener and the unattended speaker across different multi-speaker situations. Moreover, INS increases significantly prior to the occurrence of verbal responses, and even when the listener’s brain activity precedes that of the speaker. The INS increase is independent of brain-to-speech synchronization in both the anatomical location and frequency range. These findings suggest that INS underlies the selective process in a multi-speaker situation through neural predictions at the content level but not the sensory level of speech.

    Additional information

    Dai_etal_2018_sup.pdf
  • Davies, C., McGillion, M., Rowland, C. F., & Matthews, D. (2020). Can inferencing be trained in preschoolers using shared book-reading? A randomised controlled trial of parents’ inference-eliciting questions on oral inferencing ability. Journal of Child Language, 47(3), 655-679. doi:10.1017/S0305000919000801.

    Abstract

    The ability to make inferences is essential for effective language comprehension. While inferencing training benefits reading comprehension in school-aged children (see Elleman, 2017, for a review), we do not yet know whether it is beneficial to support the development of these skills prior to school entry. In a pre-registered randomised controlled trial, we evaluated the efficacy of a parent-delivered intervention intended to promote four-year-olds’ oral inferencing skills during shared book-reading. One hundred children from socioeconomically diverse backgrounds were randomly assigned to inferencing training or an active control condition of daily maths activities. The training was found to have no effect on inferencing. However, inferencing measures were highly correlated with children's baseline language ability. This suggests that a more effective approach to scaffolding inferencing in the preschool years might be to focus on promoting vocabulary to develop richer and stronger semantic networks.
  • Decuyper, C., Brysbaert, M., Brodeur, M. B., & Meyer, A. S. (2021). Bank of Standardized Stimuli (BOSS): Dutch names for 1400 photographs. Journal of Cognition, 4(1): 33. doi:10.5334/joc.180.

    Abstract

    We present written naming norms from 153 young adult Dutch speakers for 1397 photographs (the BOSS set; see Brodeur, Dionne-Dostie, Montreuil, & Lepage, 2010; Brodeur, Guérard, & Bouras, 2014). From the norming study, we report the preferred (modal) name, alternative names, name agreement, and average object agreement. In addition, the data base includes Zipf frequency, word prevalence and Age of Acquisition for the modal picture names collected. Furthermore, we describe a subset of 359 photographs with very good name agreement and a subset of 35 photos with two common names. These sets may be particularly valuable for designing experiments. Though the participants typed the object names, comparisons with other datasets indicate that the collected norms are valuable for spoken naming studies as well.
  • Dediu, D. (2018). Making genealogical language classifications available for phylogenetic analysis: Newick trees, unified identifiers, and branch length. Language Dynamics and Change, 8(1), 1-21. doi:10.1163/22105832-00801001.

    Abstract

    One of the best-known types of non-independence between languages is caused by genealogical relationships due to descent from a common ancestor. These can be represented by (more or less resolved and controversial) language family trees. In theory, one can argue that language families should be built through the strict application of the comparative method of historical linguistics, but in practice this is not always the case, and there are several proposed classifications of languages into language families, each with its own advantages and disadvantages. A major stumbling block shared by most of them is that they are relatively difficult to use with computational methods, and in particular with phylogenetics. This is due to their lack of standardization, coupled with the general non-availability of branch length information, which encapsulates the amount of evolution taking place on the family tree. In this paper I introduce a method (and its implementation in R) that converts the language classifications provided by four widely-used databases (Ethnologue, WALS, AUTOTYP and Glottolog) intothe de facto Newick standard generally used in phylogenetics, aligns the four most used conventions for unique identifiers of linguistic entities (ISO 639-3, WALS, AUTOTYP and Glottocode), and adds branch length information from a variety of sources (the tree's own topology, an externally given numeric constant, or a distance matrix). The R scripts, input data and resulting Newick trees are available under liberal open-source licenses in a GitHub repository (https://github.com/ddediu/lgfam-newick), to encourage and promote the use of phylogenetic methods to investigate linguistic diversity and its temporal dynamics.
  • Dediu, D., & Levinson, S. C. (2018). Neanderthal language revisited: Not only us. Current Opinion in Behavioral Sciences, 21, 49-55. doi:10.1016/j.cobeha.2018.01.001.

    Abstract

    Here we re-evaluate our 2013 paper on the antiquity of language (Dediu and Levinson, 2013) in the light of a surge of new information on human evolution in the last half million years. Although new genetic data suggest the existence of some cognitive differences between Neanderthals and modern humans — fully expected after hundreds of thousands of years of partially separate evolution, overall our claims that Neanderthals were fully articulate beings and that language evolution was gradual are further substantiated by the wealth of new genetic, paleontological and archeological evidence briefly reviewed here.
  • Degand, L., & Van Bergen, G. (2018). Discourse markers as turn-transition devices: Evidence from speech and instant messaging. Discourse Processes, 55, 47-71. doi:10.1080/0163853X.2016.1198136.

    Abstract

    In this article we investigate the relation between discourse markers and turn-transition strategies in face-to-face conversations and Instant Messaging (IM), that is, unplanned, real-time, text-based, computer-mediated communication. By means of a quantitative corpus study of utterances containing a discourse marker, we show that utterance-final discourse markers are used more often in IM than in face-to-face conversations. Moreover, utterance-final discourse markers are shown to occur more often at points of turn-transition compared with points of turn-maintenance in both types of conversation. From our results we conclude that the discourse markers in utterance-final position can function as a turn-transition mechanism, signaling that the turn is over and the floor is open to the hearer. We argue that this linguistic turn-taking strategy is essentially similar in face-to-face and IM communication. Our results add to the evidence that communication in IM is more like speech than like writing.
  • DeMayo, B., Kellier, D., Braginsky, M., Bergmann, C., Hendriks, C., Rowland, C. F., Frank, M., & Marchman, V. (2021). Web-CDI: A system for online administration of the MacArthur-Bates Communicative Development Inventories. Language Development Research, 10.34758/kr8e-w591. doi:10.34758/kr8e-w591.

    Abstract

    Understanding the mechanisms that drive variation in children’s language acquisition requires large, population-representative datasets of children’s word learning across development. Parent report measures such as the MacArthur-Bates Communicative Development Inventories (CDI) are commonly used to collect such data, but the traditional paper-based forms make the curation of large datasets logistically challenging. Many CDI datasets are thus gathered using convenience samples, often recruited from communities in proximity to major research institutions. Here, we introduce Web-CDI, a web-based tool which allows researchers to collect CDI data online. Web-CDI contains functionality to collect and manage longitudinal data, share links to test administrations, and download vocabulary scores. To date, over 3,500 valid Web-CDI administrations have been completed. General trends found in past norming studies of the CDI are present in data collected from Web-CDI: scores of children’s productive vocabulary grow with age, female children show a slightly faster rate of vocabulary growth, and participants with higher levels of educational attainment report slightly higher vocabulary production scores than those with lower levels of education attainment. We also report results from an effort to oversample non-white, lower-education participants via online recruitment (N = 241). These data showed similar demographic trends to the full sample but this effort resulted in a high exclusion rate. We conclude by discussing implications and challenges for the collection of large, population-representative datasets.

    Additional information

    data and code
  • Dempsey, J., & Brehm, L. (2020). Can propositional biases modulate syntactic repair processes? Insights from preceding comprehension questions. Journal of Cognitive Psychology, 32(5-6), 543-552. doi:10.1080/20445911.2020.1803884.

    Abstract

    There is an ongoing debate about whether discourse biases can constrain sentence
    processing. Previous work has shown comprehension question accuracy to decrease
    for temporarily ambiguous sentences preceded by a context biasing towards an initial
    misinterpretation, suggesting a role of context for modulating comprehension.
    However, this creates limited modulation of reading times at the disambiguating word,
    suggesting initial syntactic processing may be unaffected by context [Christianson &
    Luke, 2011. Context strengthens initial misinterpretations of text. Scientific Studies of
    Reading, 15(2), 136–166]. The current experiments examine whether propositional and
    structural content from preceding comprehension questions can cue readers to expect
    certain structures in temporarily ambiguous garden-path sentences. The central finding
    is that syntactic repair processes remain unaffected while reading times in other
    regions are modulated by preceding questions. This suggests that reading strategies
    can be superficially influenced by preceding comprehension questions without
    impacting the fidelity of ultimate (mis)representations.

    Additional information

    pecp_a_1803884_sm1217.zip
  • Den Hoed, J., Devaraju, K., & Fisher, S. E. (2021). Molecular networks of the FOXP2 transcription factor in the brain. EMBO Reports, 22(8): e52803. doi:10.15252/embr.202152803.

    Abstract

    The discovery of the FOXP2 transcription factor, and its implication in a rare severe human speech and language disorder, has led to two decades of empirical studies focused on uncovering its roles in the brain using a range of in vitro and in vivo methods. Here, we discuss what we have learned about the regulation of FOXP2, its downstream effectors, and its modes of action as a transcription factor in brain development and function, providing an integrated overview of what is currently known about the critical molecular networks.
  • Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A. J. M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S. M., Banka, S., Bena, F. S., Ben-Zeev, B., Bonagura, V. R., Bruel, A.-L., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, L., Coon, H., The DDD study, Délot, E. C. and 77 moreDen Hoed, J., De Boer, E., Voisin, N., Dingemans, A. J. M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S. M., Banka, S., Bena, F. S., Ben-Zeev, B., Bonagura, V. R., Bruel, A.-L., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, L., Coon, H., The DDD study, Délot, E. C., Démurger, F., Denommé-Pichon, A.-S., Depienne, C., Donnai, D., Dyment, D. A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J. Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K. L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A. A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M. A., Miyatake, S., Mizuguchi, T., Moey, L. H., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T. B., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J. A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R. C., Stegmann, A. P. A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J. H., Vergano, S. A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D. F., Kleefstra, T., Reymond, A., Fisher, S. E., & Vissers, L. E. L. M. (2021). Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. The American Journal of Human Genetics, 108(2), 346-356. doi:10.1016/j.ajhg.2021.01.007.

    Abstract

    Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression and a severe phenotype. Contrastingly, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay and encode truncated proteins, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.
  • Den Hoed, J., Sollis, E., Venselaar, H., Estruch, S. B., Derizioti, P., & Fisher, S. E. (2018). Functional characterization of TBR1 variants in neurodevelopmental disorder. Scientific Reports, 8: 14279. doi:10.1038/s41598-018-32053-6.

    Abstract

    Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.

    Additional information

    Electronic supplementary material
  • Den Hoed, J., & Fisher, S. E. (2020). Genetic pathways involved in human speech disorders. Current Opinion in Genetics & Development, 65, 103-111. doi:10.1016/j.gde.2020.05.012.
  • Deutsch, W., & Frauenfelder, U. (1985). Max-Planck-Institute for Psycholinguistics: Annual Report Nr.6 1985. Nijmegen: MPI for Psycholinguistics.
  • Devanna, P., Van de Vorst, M., Pfundt, R., Gilissen, C., & Vernes, S. C. (2018). Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression. Human Genetics, 137(9), 717-721. doi:10.1007/s00439-018-1925-9.

    Abstract

    Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

    Additional information

    439_2018_1925_MOESM1_ESM.docx

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