Publications

Displaying 201 - 300 of 1378
  • Cronin, K. A., Van Leeuwen, E. J. C., Vreeman, V., & Haun, D. B. M. (2014). Population-level variability in the social climates of four chimpanzee societies. Evolution and Human Behavior, 35(5), 389-396. doi:10.1016/j.evolhumbehav.2014.05.004.

    Abstract

    Recent debates have questioned the extent to which culturally-transmitted norms drive behavioral variation in resource sharing across human populations. We shed new light on this discussion by examining the group-level variation in the social dynamics and resource sharing of chimpanzees, a species that is highly social and forms long-term community associations but differs from humans in the extent to which cultural norms are adopted and enforced. We rely on theory developed in primate socioecology to guide our investigation in four neighboring chimpanzee groups at a sanctuary in Zambia. We used a combination of experimental and observational approaches to assess the distribution of resource holding potential in each group. In the first assessment, we measured the proportion of the population that gathered in a resource-rich zone, in the second we assessed naturally occurring social spacing via social network analysis, and in the third we assessed the degree to which benefits were equally distributed within the group. We report significant, stable group-level variation across these multiple measures, indicating that group-level variation in resource sharing and social tolerance is not necessarily reliant upon human-like cultural norms.
  • Yu, Y., Cui, H., Haas, S. S., New, F., Sanford, N., Yu, K., Zhan, D., Yang, G., Gao, J., Wei, D., Qiu, J., Banaj, N., Boomsma, D. I., Breier, A., Brodaty, H., Buckner, R. L., Buitelaar, J. K., Cannon, D. M., Caseras, X., Clark, V. P. Yu, Y., Cui, H., Haas, S. S., New, F., Sanford, N., Yu, K., Zhan, D., Yang, G., Gao, J., Wei, D., Qiu, J., Banaj, N., Boomsma, D. I., Breier, A., Brodaty, H., Buckner, R. L., Buitelaar, J. K., Cannon, D. M., Caseras, X., Clark, V. P., Conrod, P. J., Crivello, F., Crone, E. A., Dannlowski, U., Davey, C. G., De Haan, L., De Zubicaray, G. I., Di Giorgio, A., Fisch, L., Fisher, S. E., Franke, B., Glahn, D. C., Grotegerd, D., Gruber, O., Gur, R. E., Gur, R. C., Hahn, T., Harrison, B. J., Hatton, S., Hickie, I. B., Hulshoff Pol, H. E., Jamieson, A. J., Jernigan, T. L., Jiang, J., Kalnin, A. J., Kang, S., Kochan, N. A., Kraus, A., Lagopoulos, J., Lazaro, L., McDonald, B. C., McDonald, C., McMahon, K. L., Mwangi, B., Piras, F., Rodriguez‐Cruces, R., Royer, J., Sachdev, P. S., Satterthwaite, T. D., Saykin, A. J., Schumann, G., Sevaggi, P., Smoller, J. W., Soares, J. C., Spalletta, G., Tamnes, C. K., Trollor, J. N., Van't Ent, D., Vecchio, D., Walter, H., Wang, Y., Weber, B., Wen, W., Wierenga, L. M., Williams, S. C. R., Wu, M., Zunta‐Soares, G. B., Bernhardt, B., Thompson, P., Frangou, S., Ge, R., & ENIGMA-Lifespan Working Group (2024). Brain‐age prediction: Systematic evaluation of site effects, and sample age range and size. Human Brain Mapping, 45(10): e26768. doi:10.1002/hbm.26768.

    Abstract

    Structural neuroimaging data have been used to compute an estimate of the biological age of the brain (brain-age) which has been associated with other biologically and behaviorally meaningful measures of brain development and aging. The ongoing research interest in brain-age has highlighted the need for robust and publicly available brain-age models pre-trained on data from large samples of healthy individuals. To address this need we have previously released a developmental brain-age model. Here we expand this work to develop, empirically validate, and disseminate a pre-trained brain-age model to cover most of the human lifespan. To achieve this, we selected the best-performing model after systematically examining the impact of seven site harmonization strategies, age range, and sample size on brain-age prediction in a discovery sample of brain morphometric measures from 35,683 healthy individuals (age range: 5–90 years; 53.59% female). The pre-trained models were tested for cross-dataset generalizability in an independent sample comprising 2101 healthy individuals (age range: 8–80 years; 55.35% female) and for longitudinal consistency in a further sample comprising 377 healthy individuals (age range: 9–25 years; 49.87% female). This empirical examination yielded the following findings: (1) the accuracy of age prediction from morphometry data was higher when no site harmonization was applied; (2) dividing the discovery sample into two age-bins (5–40 and 40–90 years) provided a better balance between model accuracy and explained age variance than other alternatives; (3) model accuracy for brain-age prediction plateaued at a sample size exceeding 1600 participants. These findings have been incorporated into CentileBrain (https://centilebrain.org/#/brainAGE2), an open-science, web-based platform for individualized neuroimaging metrics.
  • Cutler, A., Norris, D., & Sebastián-Gallés, N. (2004). Phonemic repertoire and similarity within the vocabulary. In S. Kin, & M. J. Bae (Eds.), Proceedings of the 8th International Conference on Spoken Language Processing (Interspeech 2004-ICSLP) (pp. 65-68). Seoul: Sunjijn Printing Co.

    Abstract

    Language-specific differences in the size and distribution of the phonemic repertoire can have implications for the task facing listeners in recognising spoken words. A language with more phonemes will allow shorter words and reduced embedding of short words within longer ones, decreasing the potential for spurious lexical competitors to be activated by speech signals. We demonstrate that this is the case via comparative analyses of the vocabularies of English and Spanish. A language which uses suprasegmental as well as segmental contrasts, however, can substantially reduce the extent of spurious embedding.
  • Cutler, A. (2004). Segmentation of spoken language by normal adult listeners. In R. Kent (Ed.), MIT encyclopedia of communication sciences and disorders (pp. 392-395). Cambridge, MA: MIT Press.
  • 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., & Henton, C. G. (2004). There's many a slip 'twixt the cup and the lip. In H. Quené, & V. Van Heuven (Eds.), On speech and Language: Studies for Sieb G. Nooteboom (pp. 37-45). Utrecht: Netherlands Graduate School of Linguistics.

    Abstract

    The retiring academic may look back upon, inter alia, years of conference attendance. Speech error researchers are uniquely fortunate because they can collect data in any situation involving communication; accordingly, the retiring speech error researcher will have collected data at those conferences. We here address the issue of whether error data collected in situations involving conviviality (such as at conferences) is representative of error data in general. Our approach involved a comparison, across three levels of linguistic processing, between a specially constructed Conviviality Sample and the largest existing source of speech error data, the newly available Fromkin Speech Error Database. The results indicate that there are grounds for regarding the data in the Conviviality Sample as a better than average reflection of the true population of all errors committed. These findings encourage us to recommend further data collection in collaboration with like-minded colleagues.
  • Cutler, A. (2004). Twee regels voor academische vorming. In H. Procee (Ed.), Bij die wereld wil ik horen! Zesendertig columns en drie essays over de vorming tot academicus. (pp. 42-45). Amsterdam: Boom.
  • Cutler, A., & Norris, D. (2016). Bottoms up! How top-down pitfalls ensnare speech perception researchers too. Commentary on C. Firestone & B. Scholl: Cognition does not affect perception: Evaluating the evidence for 'top-down' effects. Behavioral and Brain Sciences, e236. doi:10.1017/S0140525X15002745.

    Abstract

    Not only can the pitfalls that Firestone & Scholl (F&S) identify be generalised across multiple studies within the field of visual perception, but also they have general application outside the field wherever perceptual and cognitive processing are compared. We call attention to the widespread susceptibility of research on the perception of speech to versions of the same pitfalls.
  • Ip, M., & Cutler, A. (2016). Cross-language data on five types of prosodic focus. In J. Barnes, A. Brugos, S. Shattuck-Hufnagel, & N. Veilleux (Eds.), Proceedings of Speech Prosody 2016 (pp. 330-334).

    Abstract

    To examine the relative roles of language-specific and language-universal mechanisms in the production of prosodic focus, we compared production of five different types of focus by native speakers of English and Mandarin. Two comparable dialogues were constructed for each language, with the same words appearing in focused and unfocused position; 24 speakers recorded each dialogue in each language. Duration, F0 (mean, maximum, range), and rms-intensity (mean, maximum) of all critical word tokens were measured. Across the different types of focus, cross-language differences were observed in the degree to which English versus Mandarin speakers use the different prosodic parameters to mark focus, suggesting that while prosody may be universally available for expressing focus, the means of its employment may be considerably language-specific
  • Cutler, A. (1981). Degrees of transparency in word formation. Canadian Journal of Linguistics, 26, 73-77.
  • Cutler, A., Mister, E., Norris, D., & Sebastián-Gallés, N. (2004). La perception de la parole en espagnol: Un cas particulier? In L. Ferrand, & J. Grainger (Eds.), Psycholinguistique cognitive: Essais en l'honneur de Juan Segui (pp. 57-74). Brussels: De Boeck.
  • Cutler, A., & McQueen, J. M. (2014). How prosody is both mandatory and optional. In J. Caspers, Y. Chen, W. Heeren, J. Pacilly, N. O. Schiller, & E. Van Zanten (Eds.), Above and Beyond the Segments: Experimental linguistics and phonetics (pp. 71-82). Amsterdam: Benjamins.

    Abstract

    Speech signals originate as a sequence of linguistic units selected by speakers, but these units are necessarily realised in the suprasegmental dimensions of time, frequency and amplitude. For this reason prosodic structure has been viewed as a mandatory target of language processing by both speakers and listeners. In apparent contradiction, however, prosody has also been argued to be ancillary rather than core linguistic structure, making processing of prosodic structure essentially optional. In the present tribute to one of the luminaries of prosodic research for the past quarter century, we review evidence from studies of the processing of lexical stress and focal accent which reconciles these views and shows that both claims are, each in their own way, fully true.
  • 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. (2014). In thrall to the vocabulary. Acoustics Australia, 42, 84-89.

    Abstract

    Vocabularies contain hundreds of thousands of words built from only a handful of phonemes; longer words inevitably tend to contain shorter ones. Recognising speech thus requires distinguishing intended words from accidentally present ones. Acoustic information in speech is used wherever it contributes significantly to this process; but as this review shows, its contribution differs across languages, with the consequences of this including: identical and equivalently present information distinguishing the same phonemes being used in Polish but not in German, or in English but not in Italian; identical stress cues being used in Dutch but not in English; expectations about likely embedding patterns differing across English, French, Japanese.
  • Cutler, A. (1981). Making up materials is a confounded nuisance, or: Will we able to run any psycholinguistic experiments at all in 1990? Cognition, 10, 65-70. doi:10.1016/0010-0277(81)90026-3.
  • 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., & Darwin, C. J. (1981). Phoneme-monitoring reaction time and preceding prosody: Effects of stop closure duration and of fundamental frequency. Perception and Psychophysics, 29, 217-224. Retrieved from http://www.psychonomic.org/search/view.cgi?id=12660.

    Abstract

    In an earlier study, it was shown that listeners can use prosodic cues that predict where sentence stress will fall; phoneme-monitoring RTs are faster when the preceding prosody indicates that the word bearing the target will be stressed. Two experiments which further investigate this effect are described. In the first, it is shown that the duration of the closure preceding the release of the target stop consonant burst does not affect the RT advantage for stressed words. In the second, it is shown that fundamental frequency variation is not a necessary component of the prosodic variation that produces the predicted-stress effect. It is argued that sentence processing involves a very flexible use of prosodic information.
  • Cutler, A. (1982). Prosody and sentence perception in English. In J. Mehler, E. C. Walker, & M. Garrett (Eds.), Perspectives on mental representation: Experimental and theoretical studies of cognitive processes and capacities (pp. 201-216). Hillsdale, N.J: Erlbaum.
  • Cutler, A. (1981). The cognitive reality of suprasegmental phonology. In T. Myers, J. Laver, & J. Anderson (Eds.), The cognitive representation of speech (pp. 399-400). Amsterdam: North-Holland.
  • 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. (1981). The reliability of speech error data. Linguistics, 19, 561-582.
  • 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.
  • Dalla Bella, S., Janaqi, S., Benoit, C.-E., Farrugia, N., Bégel, V., Verga, L., Harding, E. E., & Kotz, S. A. (2024). Unravelling individual rhythmic abilities using machine learning. Scientific Reports, 14(1): 1135. doi:10.1038/s41598-024-51257-7.

    Abstract

    Humans can easily extract the rhythm of a complex sound, like music, and move to its regular beat, like in dance. These abilities are modulated by musical training and vary significantly in untrained individuals. The causes of this variability are multidimensional and typically hard to grasp in single tasks. To date we lack a comprehensive model capturing the rhythmic fingerprints of both musicians and non-musicians. Here we harnessed machine learning to extract a parsimonious model of rhythmic abilities, based on behavioral testing (with perceptual and motor tasks) of individuals with and without formal musical training (n = 79). We demonstrate that variability in rhythmic abilities and their link with formal and informal music experience can be successfully captured by profiles including a minimal set of behavioral measures. These findings highlight that machine learning techniques can be employed successfully to distill profiles of rhythmic abilities, and ultimately shed light on individual variability and its relationship with both formal musical training and informal musical experiences.

    Additional information

    supplementary materials
  • Dalli, A., Tablan, V., Bontcheva, K., Wilks, Y., Broeder, D., Brugman, H., & Wittenburg, P. (2004). Web services architecture for language resources. In M. Lino, M. Xavier, F. Ferreira, R. Costa, & R. Silva (Eds.), Proceedings of the 4th International Conference on Language Resources and Evaluation (LREC2004) (pp. 365-368). Paris: ELRA - European Language Resources Association.
  • Dang, A., Raviv, L., & Galke, L. (2024). Testing the linguistic niche hypothesis in large with a multilingual Wug test. In J. Nölle, L. Raviv, K. E. Graham, S. Hartmann, Y. Jadoul, M. Josserand, T. Matzinger, K. Mudd, M. Pleyer, A. Slonimska, & S. Wacewicz (Eds.), The Evolution of Language: Proceedings of the 15th International Conference (EVOLANG XV) (pp. 91-93). Nijmegen: The Evolution of Language Conferences.
  • Dautriche, I., Cristia, A., Brusini, P., Yuan, S., Fisher, C., & Christophe, A. (2014). Toddlers default to canonical surface-to-meaning mapping when learning verbs. Child Development, 85(3), 1168-1180. doi:10.1111/cdev.12183.

    Abstract

    This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.
  • Dediu, D. (2016). A multi-layered problem. IEEE CDS Newsletter, 13, 14-15.

    Abstract

    A response to Moving Beyond Nature-Nurture: a Problem of Science or Communication? by John Spencer, Mark Blumberg and David Shenk
  • Dediu, D., & Moisik, S. (2016). Defining and counting phonological classes in cross-linguistic segment databases. In N. Calzolari, K. Choukri, T. Declerck, S. Goggi, M. Grobelnik, B. Maegaard, J. Mariani, H. Mazo, A. Moreno, J. Odijk, & S. Piperidis (Eds.), Proceedings of LREC 2016: 10th International Conference on Language Resources and Evaluation (pp. 1955-1962). Paris: European Language Resources Association (ELRA).

    Abstract

    Recently, there has been an explosion in the availability of large, good-quality cross-linguistic databases such as WALS (Dryer & Haspelmath, 2013), Glottolog (Hammarstrom et al., 2015) and Phoible (Moran & McCloy, 2014). Databases such as Phoible contain the actual segments used by various languages as they are given in the primary language descriptions. However, this segment-level representation cannot be used directly for analyses that require generalizations over classes of segments that share theoretically interesting features. Here we present a method and the associated R (R Core Team, 2014) code that allows the exible denition of such meaningful classes and that can identify the sets of segments falling into such a class for any language inventory. The method and its results are important for those interested in exploring cross-linguistic patterns of phonetic and phonological diversity and their relationship to extra-linguistic factors and processes such as climate, economics, history or human genetics.
  • Dediu, D., & Moisik, S. R. (2016). Anatomical biasing of click learning and production: An MRI and 3d palate imaging study. In S. G. Roberts, C. Cuskley, L. McCrohon, L. Barceló-Coblijn, O. Feher, & T. Verhoef (Eds.), The Evolution of Language: Proceedings of the 11th International Conference (EVOLANG11). Retrieved from http://evolang.org/neworleans/papers/57.html.

    Abstract

    The current paper presents results for data on click learning obtained from a larger imaging study (using MRI and 3D intraoral scanning) designed to quantify and characterize intra- and inter-population variation of vocal tract structures and the relation of this to speech production. The aim of the click study was to ascertain whether and to what extent vocal tract morphology influences (1) the ability to learn to produce clicks and (2) the productions of those that successfully learn to produce these sounds. The results indicate that the presence of an alveolar ridge certainly does not prevent an individual from learning to produce click sounds (1). However, the subtle details of how clicks are produced may indeed be driven by palate shape (2).
  • Dediu, D., & Graham, S. A. (2014). Genetics and Language. In M. Aronoff (Ed.), Oxford Bibliographies in Linguistics. New York: Oxford University Press. Retrieved from http://www.oxfordbibliographies.com/view/document/obo-9780199772810/obo-9780199772810-0184.xml.

    Abstract

    This article surveys what is currently known about the complex interplay between genetics and the language sciences. It focuses not only on the genetic architecture of language and speech, but also on their interactions on the cultural and evolutionary timescales. Given the complexity of these issues and their current state of flux and high dynamism, this article surveys the main findings and topics of interest while also briefly introducing the main relevant methods, thus allowing the interested reader to fully appreciate and understand them in their proper context. Of course, not all the relevant publications and resources are mentioned, but this article aims to select the most relevant, promising, or accessible for nonspecialists.

    Files private

    Request files
  • Dediu, D. (2014). Language and biology: The multiple interactions between genetics and language. In N. J. Enfield, P. Kockelman, & J. Sidnell (Eds.), The Cambridge handbook of linguistic anthropology (pp. 686-707). Cambridge: Cambridge University Press.
  • Dediu, D., & Levinson, S. C. (2014). Language and speech are old: A review of the evidence and consequences for modern linguistic diversity. In E. A. Cartmill, S. G. Roberts, H. Lyn, & H. Cornish (Eds.), The Evolution of Language: Proceedings of the 10th International Conference (pp. 421-422). Singapore: World Scientific.
  • Dediu, D., & de Boer, B. (2016). Language evolution needs its own journal. Journal of Language Evolution, 1, 1-6. doi:10.1093/jole/lzv001.

    Abstract

    Interest in the origins and evolution of language has been around for as long as language has been around. However, only recently has the empirical study of language come of age. We argue that the field has sufficiently advanced that it now needs its own journal—the Journal of Language Evolution.
  • Dediu, D., & Christiansen, M. H. (2016). Language evolution: Constraints and opportunities from modern genetics. Topics in Cognitive Science, 8, 361-370. doi:10.1111/tops.12195.

    Abstract

    Our understanding of language, its origins and subsequent evolution (including language change) is shaped not only by data and theories from the language sciences, but also fundamentally by the biological sciences. Recent developments in genetics and evolutionary theory offer both very strong constraints on what scenarios of language evolution are possible and probable but also offer exciting opportunities for understanding otherwise puzzling phenomena. Due to the intrinsic breathtaking rate of advancement in these fields, the complexity, subtlety and sometimes apparent non-intuitiveness of the phenomena discovered, some of these recent developments have either being completely missed by language scientists, or misperceived and misrepresented. In this short paper, we offer an update on some of these findings and theoretical developments through a selection of illustrative examples and discussions that cast new light on current debates in the language sciences. The main message of our paper is that life is much more complex and nuanced than anybody could have predicted even a few decades ago, and that we need to be flexible in our theorizing instead of embracing a priori dogmas and trying to patch paradigms that are no longer satisfactory.
  • Dediu, D., & Levinson, S. C. (2014). The time frame of the emergence of modern language and its implications. In D. Dor, C. Knight, & J. Lewis (Eds.), The social origins of language (pp. 184-195). Oxford: Oxford University Press.
  • Dediu, D. (2016). Typology for the masses. Linguistic typology, 20(3), 579-581. doi:10.1515/lingty-2016-0029.
  • Defina, R. (2016). Do serial verb constructions describe single events? A study of co-speech gestures in Avatime. Language, 92(4), 890-910. doi:10.1353/lan.2016.0076.

    Abstract

    Serial verb constructions have often been said to refer to single conceptual events. However, evidence to support this claim has been elusive. This article introduces co-speech gestures as a new way of investigating the relationship. The alignment patterns of gestures with serial verb constructions and other complex clauses were compared in Avatime (Ka-Togo, Kwa, Niger-Congo). Serial verb constructions tended to occur with single gestures overlapping the entire construction. In contrast, other complex clauses were more likely to be accompanied by distinct gestures overlapping individual verbs. This pattern of alignment suggests that serial verb constructions are in fact used to describe single events.

    Additional information

    https://doi.org/10.1353/lan.2016.0069
  • Defina, R. (2014). Arbil: Free tool for creating, editing and searching metadata. Language Documentation and Conservation, 8, 307-314.
  • Defina, R. (2016). Events in language and thought: The case of serial verb constructions in Avatime. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Defina, R. (2016). Serial verb constructions and their subtypes in Avatime. Studies in Language, 40(3), 648-680. doi:10.1075/sl.40.3.07def.
  • Defina, R., Dingemanse, M., & Van Putten, S. (2024). Linguistic fieldwork as team science. In E. Aboh (Ed.), Predication in African Languages (pp. 20-42). Amsterdam: John Benjamins. doi:10.1075/slcs.235.01def.

    Abstract


    Linguistic fieldwork is increasingly moving forward from the traditional model of lone fieldworker with a notebook to collaborative projects with key roles for native speakers and other experts and involving the use of different kinds of stimulus-based elicitation methods as well as extensive video documentation. Several cohorts of colleagues and students have been influenced by this inclusive and interdisciplinary view of linguistic fieldwork. We describe the challenges and benefits of doing multi-methods collaborative fieldwork. As linguistics inevitably moves into the direction of multiple methods, interdisciplinarity and team science, now is the time to reflect critically on how best to contribute to a cumulative science of language.
  • Den Os, E., & Boves, L. (2004). Natural multimodal interaction for design applications. In P. Cunningham (Ed.), Adoption and the knowledge economy (pp. 1403-1410). Amsterdam: IOS Press.
  • Deriziotis, P., O'Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R. A., Gerdts, J., Shendure, J., Eichler, E. E., & Fisher, S. E. (2014). De novo TBR1 mutations in sporadic autism disrupt protein functions. Nature Communications, 5: 4954. doi:10.1038/ncomms5954.

    Abstract

    Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
  • Deriziotis, P., Graham, S. A., Estruch, S. B., & Fisher, S. E. (2014). Investigating protein-protein interactions in live cells using Bioluminescence Resonance Energy Transfer. Journal of visualized experiments, 87: e51438. doi:10.3791/51438.

    Abstract

    Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

    Additional information

    video
  • Devanna, P., & Vernes, S. C. (2014). A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137. Scientific Reports, 4: 3994. doi:10.1038/srep03994.

    Abstract

    Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes
  • Devanna, P., Middelbeek, J., & Vernes, S. C. (2014). FOXP2 drives neuronal differentiation by interacting with retinoic acid signaling pathways. Frontiers in Cellular Neuroscience, 8: 305. doi:10.3389/fncel.2014.00305.

    Abstract

    FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells
  • Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P. and 3 moreDias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P., Hurles, M. E., DDD Study, Fisher, S. E., & Logan, D. W. (2016). BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. The American Journal of Human Genetics, 99(2), 253-274. doi:10.1016/j.ajhg.2016.05.030.

    Abstract

    Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes
  • Diaz, B., Mitterer, H., Broersma, M., Escara, C., & Sebastián-Gallés, N. (2016). Variability in L2 phonemic learning originates from speech-specific capabilities: An MMN study on late bilinguals. Bilingualism: Language and Cognition, 19(5), 955-970. doi:10.1017/S1366728915000450.

    Abstract

    People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan
  • Dikshit, A. P., Das, D., Samal, R. R., Parashar, K., Mishra, C., & Parashar, S. (2024). Optimization of (Ba1-xCax)(Ti0.9Sn0.1)O3 ceramics in X-band using Machine Learning. Journal of Alloys and Compounds, 982: 173797. doi:10.1016/j.jallcom.2024.173797.

    Abstract

    Developing efficient electromagnetic interference shielding materials has become significantly important in present times. This paper reports a series of (Ba1-xCax)(Ti0.9Sn0.1)O3 (BCTS) ((x =0, 0.01, 0.05, & 0.1)ceramics synthesized by conventional method which were studied for electromagnetic interference shielding (EMI) applications in X-band (8-12.4 GHz). EMI shielding properties and all S parameters (S11 & S12) of BCTS ceramic pellets were measured in the frequency range (8-12.4 GHz) using a Vector Network Analyser (VNA). The BCTS ceramic pellets for x = 0.05 showed maximum total effective shielding of 46 dB indicating good shielding behaviour for high-frequency applications. However, the development of lead-free ceramics with different concentrations usually requires iterative experiments resulting in, longer development cycles and higher costs. To address this, we used a machine learning (ML) strategy to predict the EMI shielding for different concentrations and experimentally verify the concentration predicted to give the best EMI shielding. The ML model predicted BCTS ceramics with concentration (x = 0.06, 0.07, 0.08, and 0.09) to have higher shielding values. On experimental verification, a shielding value of 58 dB was obtained for x = 0.08, which was significantly higher than what was obtained experimentally before applying the ML approach. Our results show the potential of using ML in accelerating the process of optimal material development, reducing the need for repeated experimental measures significantly.
  • Dima, A. L., & Dediu, D. (2016). Computation of Adherence to Medications and Visualization of Medication Histories in R with AdhereR: Towards Transparent and Reproducible Use of Electronic Healthcare Data. PLoS One, 12(4): e0174426. doi:10.1371/journal.pone.0174426.

    Abstract

    Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.
  • Dimitrova, D. V., Chu, M., Wang, L., Ozyurek, A., & Hagoort, P. (2016). Beat that word: How listeners integrate beat gesture and focus in multimodal speech discourse. Journal of Cognitive Neuroscience, 28(9), 1255-1269. doi:10.1162/jocn_a_00963.

    Abstract

    Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.
  • Dimroth, C. (2004). Fokuspartikeln und Informationsgliederung im Deutschen. Tübingen: Stauffenburg.
  • Ding, R., Ten Oever, S., & Martin, A. E. (2024). Delta-band activity underlies referential meaning representation during pronoun resolution. Journal of Cognitive Neuroscience, 36(7), 1472-1492. doi:10.1162/jocn_a_02163.

    Abstract

    Human language offers a variety of ways to create meaning, one of which is referring to entities, objects, or events in the world. One such meaning maker is understanding to whom or to what a pronoun in a discourse refers to. To understand a pronoun, the brain must access matching entities or concepts that have been encoded in memory from previous linguistic context. Models of language processing propose that internally stored linguistic concepts, accessed via exogenous cues such as phonological input of a word, are represented as (a)synchronous activities across a population of neurons active at specific frequency bands. Converging evidence suggests that delta band activity (1–3 Hz) is involved in temporal and representational integration during sentence processing. Moreover, recent advances in the neurobiology of memory suggest that recollection engages neural dynamics similar to those which occurred during memory encoding. Integrating from these two research lines, we here tested the hypothesis that neural dynamic patterns, especially in delta frequency range, underlying referential meaning representation, would be reinstated during pronoun resolution. By leveraging neural decoding techniques (i.e., representational similarity analysis) on a magnetoencephalogram data set acquired during a naturalistic story-listening task, we provide evidence that delta-band activity underlies referential meaning representation. Our findings suggest that, during spoken language comprehension, endogenous linguistic representations such as referential concepts may be proactively retrieved and represented via activation of their underlying dynamic neural patterns.
  • Dingemanse, M., & Enfield, N. J. (2014). Ongeschreven regels van de taal. Psyche en Brein, 6, 6-11.

    Abstract

    Als je wereldwijd gesprekken beluistert, merk je dat de menselijke dialoog universele regels volgt. Die sturen en verrijken onze sociale interactie.
  • Dingemanse, M., & Floyd, S. (2014). Conversation across cultures. In N. J. Enfield, P. Kockelman, & J. Sidnell (Eds.), The Cambridge handbook of linguistic anthropology (pp. 447-480). Cambridge: Cambridge University Press.
  • Dingemanse, M., Kendrick, K. H., & Enfield, N. J. (2016). A Coding Scheme for Other-Initiated Repair across Languages. Open Linguistics, 2, 35-46. doi:10.1515/opli-2016-0002.

    Abstract

    We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.
  • Dingemanse, M., Torreira, F., & Enfield, N. J. (2014). Conversational infrastructure and the convergent evolution of linguistic items. In E. A. Cartmill, S. G. Roberts, H. Lyn, & H. Cornish (Eds.), The Evolution of Language: Proceedings of the 10th International Conference (pp. 425-426). Singapore: World Scientific.
  • Dingemanse, M., Blythe, J., & Dirksmeyer, T. (2014). Formats for other-initiation of repair across languages: An exercise in pragmatic typology. Studies in Language, 38, 5-43. doi:10.1075/sl.38.1.01din.

    Abstract

    In conversation, people have to deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them
  • Dingemanse, M. (2014). Making new ideophones in Siwu: Creative depiction in conversation. Pragmatics and Society, 5(3), 384-405. doi:10.1075/ps.5.3.04din.

    Abstract

    Ideophones are found in many of the world’s languages. Though they are a major word class on a par with nouns and verbs, their origins are ill-understood, and the question of ideophone creation has been a source of controversy. This paper studies ideophone creation in naturally occurring speech. New, unconventionalised ideophones are identified using native speaker judgements, and are studied in context to understand the rules and regularities underlying their production and interpretation. People produce and interpret new ideophones with the help of the semiotic infrastructure that underlies the use of existing ideophones: foregrounding frames certain stretches of speech as depictive enactments of sensory imagery, and various types of iconicity link forms and meanings. As with any creative use of linguistic resources, context and common ground also play an important role in supporting rapid ‘good enough’ interpretations of new material. The making of new ideophones is a special case of a more general phenomenon of creative depiction: the art of presenting verbal material in such a way that the interlocutor recognises and interprets it as a depiction.
  • Dingemanse, M., & Enfield, N. J. (2014). Let's talk: Universal social rules underlie languages. Scientific American Mind, 25, 64-69. doi:10.1038/scientificamericanmind0914-64.

    Abstract

    Recent developments in the science of language signal the emergence of a new paradigm for language study: a social approach to the fundamental questions of what language is like, how much languages really have in common, and why only our species has it. The key to these developments is a new appreciation of the need to study everyday spoken language, with all its complications and ‘imperfections’, in a systematic way. The work reviewed in this article —on turn-taking, timing, and other-initiated repair in languages around the world— has important implications for our understanding of human sociality and sheds new light on the social shape of language. For the first time in the history of linguistics, we are no longer tied to what can be written down or thought up. Rather, we look at language as a biologist would: as it occurs in nature.
  • Dingemanse, M., Verhoef, T., & Roberts, S. G. (2014). The role of iconicity in the cultural evolution of communicative signals. In B. De Boer, & T. Verhoef (Eds.), Proceedings of Evolang X, Workshop on Signals, Speech, and Signs (pp. 11-15).
  • Dingemanse, M., Schuerman, W. L., Reinisch, E., Tufvesson, S., & Mitterer, H. (2016). What sound symbolism can and cannot do: Testing the iconicity of ideophones from five languages. Language, 92(2), e117-e133. doi:10.1353/lan.2016.0034.

    Abstract

    Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

    Additional information

    https://muse.jhu.edu/article/619540
  • Dingemanse, M., & Enfield, N. J. (2024). Interactive repair and the foundations of language. Trends in Cognitive Sciences, 28(1), 30-42. doi:10.1016/j.tics.2023.09.003.

    Abstract

    The robustness and flexibility of human language is underpinned by a machinery of interactive repair. Repair is deeply intertwined with two core properties of human language: reflexivity (it can communicate about itself) and accountability (it is used to publicly enforce social norms). We review empirical and theoretical advances from across the cognitive sciences that mark interactive repair as a domain of pragmatic universals, a key place to study metacognition in interaction, and a system that enables collective computation. This provides novel insights on the role of repair in comparative cognition, language development and human-computer interaction. As an always-available fallback option and an infrastructure for negotiating social commitments, interactive repair is foundational to the resilience, complexity, and flexibility of human language.
  • Dingemanse, M. (2024). Interjections at the heart of language. Annual Review of Linguistics, 10, 257-277. doi:10.1146/annurev-linguistics-031422-124743.
  • Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H. and 26 moreDjemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B. P., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Leu, C., Marini, C., McMahon, J. M., Mei, D., Moller, R. S., Muhle, H., Myers, C. T., Nava, C., Serratosa, J. M., Sisodiya, S. M., Stephani, U., Striano, P., van Kempen, M. J., Verbeek, N. E., Usluer, S., Zara, F., Palotie, A., Mefford, H. C., Scheffer, I. E., De Jonghe, P., Helbig, I., & Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. Molecular Genetics & Genomic Medicine, 4(4), 457-64. doi:10.1002/mgg3.217.

    Abstract

    Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.
  • Dolscheid, S., Hunnius, S., Casasanto, D., & Majid, A. (2014). Prelinguistic infants are sensitive to space-pitch associations found across cultures. Psychological Science, 25(6), 1256-1261. doi:10.1177/0956797614528521.

    Abstract

    People often talk about musical pitch using spatial metaphors. In English, for instance, pitches can be “high” or “low” (i.e., height-pitch association), whereas in other languages, pitches are described as “thin” or “thick” (i.e., thickness-pitch association). According to results from psychophysical studies, metaphors in language can shape people’s nonlinguistic space-pitch representations. But does language establish mappings between space and pitch in the first place, or does it only modify preexisting associations? To find out, we tested 4-month-old Dutch infants’ sensitivity to height-pitch and thickness-pitch mappings using a preferential-looking paradigm. The infants looked significantly longer at cross-modally congruent stimuli for both space-pitch mappings, which indicates that infants are sensitive to these associations before language acquisition. The early presence of space-pitch mappings means that these associations do not originate from language. Instead, language builds on preexisting mappings, changing them gradually via competitive associative learning. Space-pitch mappings that are language-specific in adults develop from mappings that may be universal in infants.
  • Dolscheid, S., Willems, R. M., Hagoort, P., & Casasanto, D. (2014). The relation of space and musical pitch in the brain. In P. Bello, M. Guarini, M. McShane, & B. Scassellati (Eds.), Proceedings of the 36th Annual Meeting of the Cognitive Science Society (CogSci 2014) (pp. 421-426). Austin, Tx: Cognitive Science Society.

    Abstract

    Numerous experiments show that space and musical pitch are
    closely linked in people's minds. However, the exact nature of
    space-pitch associations and their neuronal underpinnings are
    not well understood. In an fMRI experiment we investigated
    different types of spatial representations that may underlie
    musical pitch. Participants judged stimuli that varied in
    spatial height in both the visual and tactile modalities, as well
    as auditory stimuli that varied in pitch height. In order to
    distinguish between unimodal and multimodal spatial bases of
    musical pitch, we examined whether pitch activations were
    present in modality-specific (visual or tactile) versus
    multimodal (visual and tactile) regions active during spatial
    height processing. Judgments of musical pitch were found to
    activate unimodal visual areas, suggesting that space-pitch
    associations may involve modality-specific spatial
    representations, supporting a key assumption of embodied
    theories of metaphorical mental representation.
  • Dona, L., & Schouwstra, M. (2024). Balancing regularization and variation: The roles of priming and motivatedness. In J. Nölle, L. Raviv, K. E. Graham, S. Hartmann, Y. Jadoul, M. Josserand, T. Matzinger, K. Mudd, M. Pleyer, A. Slonimska, & S. Wacewicz (Eds.), The Evolution of Language: Proceedings of the 15th International Conference (EVOLANG XV) (pp. 130-133). Nijmegen: The Evolution of Language Conferences.
  • Donnelly, S., Rowland, C. F., Chang, F., & Kidd, E. (2024). A comprehensive examination of prediction‐based error as a mechanism for syntactic development: Evidence from syntactic priming. Cognitive Science, 48(4): e13431. doi:10.1111/cogs.13431.

    Abstract

    Prediction-based accounts of language acquisition have the potential to explain several different effects in child language acquisition and adult language processing. However, evidence regarding the developmental predictions of such accounts is mixed. Here, we consider several predictions of these accounts in two large-scale developmental studies of syntactic priming of the English dative alternation. Study 1 was a cross-sectional study (N = 140) of children aged 3−9 years, in which we found strong evidence of abstract priming and the lexical boost, but little evidence that either effect was moderated by age. We found weak evidence for a prime surprisal effect; however, exploratory analyses revealed a protracted developmental trajectory for verb-structure biases, providing an explanation as for why prime surprisal effects are more elusive in developmental populations. In a longitudinal study (N = 102) of children in tightly controlled age bands at 42, 48, and 54 months, we found priming effects emerged on trials with verb overlap early but did not observe clear evidence of priming on trials without verb overlap until 54 months. There was no evidence of a prime surprisal effect at any time point and none of the effects were moderated by age. The results relating to the emergence of the abstract priming and lexical boost effects are consistent with prediction-based models, while the absence of age-related effects appears to reflect the structure-specific challenges the dative presents to English-acquiring children. Overall, our complex pattern of findings demonstrates the value of developmental data sets in testing psycholinguistic theory.

    Additional information

    table S1 and S2 appendix A, B, C and D
  • Doumas, L. A., & Martin, A. E. (2016). Abstraction in time: Finding hierarchical linguistic structure in a model of relational processing. In A. Papafragou, D. Grodner, D. Mirman, & J. Trueswell (Eds.), Proceedings of the 38th Annual Meeting of the Cognitive Science Society (CogSci 2016) (pp. 2279-2284). Austin, TX: Cognitive Science Society.

    Abstract

    Abstract mental representation is fundamental for human cognition. Forming such representations in time, especially from dynamic and noisy perceptual input, is a challenge for any processing modality, but perhaps none so acutely as for language processing. We show that LISA (Hummel & Holyaok, 1997) and DORA (Doumas, Hummel, & Sandhofer, 2008), models built to process and to learn structured (i.e., symbolic) rep resentations of conceptual properties and relations from unstructured inputs, show oscillatory activation during processing that is highly similar to the cortical activity elicited by the linguistic stimuli from Ding et al.(2016). We argue, as Ding et al.(2016), that this activation reflects formation of hierarchical linguistic representation, and furthermore, that the kind of computational mechanisms in LISA/DORA (e.g., temporal binding by systematic asynchrony of firing) may underlie formation of abstract linguistic representations in the human brain. It may be this repurposing that allowed for the generation or mergence of hierarchical linguistic structure, and therefore, human language, from extant cognitive and neural systems. We conclude that models of thinking and reasoning and models of language processing must be integrated —not only for increased plausiblity, but in order to advance both fields towards a larger integrative model of human cognition
  • Drijvers, L., Mulder, K., & Ernestus, M. (2016). Alpha and gamma band oscillations index differential processing of acoustically reduced and full forms. Brain and Language, 153-154, 27-37. doi:10.1016/j.bandl.2016.01.003.

    Abstract

    Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.
  • Dronkers, N. F., Wilkins, D. P., Van Valin Jr., R. D., Redfern, B. B., & Jaeger, J. J. (2004). Lesion analysis of the brain areas involved in language comprehension. Cognition, 92, 145-177. doi:10.1016/j.cognition.2003.11.002.

    Abstract

    The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2016). Lexically-guided perceptual learning in non-native listening. Bilingualism: Language and Cognition, 19(5), 914-920. doi:10.1017/S136672891600002X.

    Abstract

    There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2014). Phoneme category retuning in a non-native language. In Proceedings of Interspeech 2014: 15th Annual Conference of the International Speech Communication Association (pp. 553-557).

    Abstract

    Previous studies have demonstrated that native listeners
    modify their interpretation of a speech sound when a talker
    produces an ambiguous sound in order to quickly tune into a
    speaker, but there is hardly any evidence that non-native
    listeners employ a similar mechanism when encountering
    ambiguous pronunciations. So far, one study demonstrated
    this lexically-guided perceptual learning effect for nonnatives,
    using phoneme categories similar in the native
    language of the listeners and the non-native language of the
    stimulus materials. The present study investigates the question
    whether phoneme category retuning is possible in a nonnative
    language for a contrast, /l/-/r/, which is phonetically
    differently embedded in the native (Dutch) and nonnative
    (English) languages involved. Listening experiments indeed
    showed a lexically-guided perceptual learning effect.
    Assuming that Dutch listeners have different phoneme
    categories for the native Dutch and non-native English /r/, as
    marked differences between the languages exist for /r/, these
    results, for the first time, seem to suggest that listeners are not
    only able to retune their native phoneme categories but also
    their non-native phoneme categories to include ambiguous
    pronunciations.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2016). Processing and adaptation to ambiguous sounds during the course of perceptual learning. In Proceedings of Interspeech 2016: The 17th Annual Conference of the International Speech Communication Association (pp. 2811-2815). doi:10.21437/Interspeech.2016-814.

    Abstract

    Listeners use their lexical knowledge to interpret ambiguous sounds, and retune their phonetic categories to include this ambiguous sound. Although there is ample evidence for lexically-guided retuning, the adaptation process is not fully understood. Using a lexical decision task with an embedded auditory semantic priming task, the present study investigates whether words containing an ambiguous sound are processed in the same way as “natural” words and whether adaptation to the ambiguous sound tends to equalize the processing of “ambiguous” and natural words. Analyses of the yes/no responses and reaction times to natural and “ambiguous” words showed that words containing an ambiguous sound were accepted as words less often and were processed slower than the same words without ambiguity. The difference in acceptance disappeared after exposure to approximately 15 ambiguous items. Interestingly, lower acceptance rates and slower processing did not have an effect on the processing of semantic information of the following word. However, lower acceptance rates of ambiguous primes predict slower reaction times of these primes, suggesting an important role of stimulus-specific characteristics in triggering lexically-guided perceptual learning.
  • Drude, S., Trilsbeek, P., Sloetjes, H., & Broeder, D. (2014). Best practices in the creation, archiving and dissemination of speech corpora at the Language Archive. In S. Ruhi, M. Haugh, T. Schmidt, & K. Wörner (Eds.), Best Practices for Spoken Corpora in Linguistic Research (pp. 183-207). Newcastle upon Tyne: Cambridge Scholars Publishing.
  • Drude, S. (2014). Reduplication as a tool for morphological and phonological analysis in Awetí. In G. G. Gómez, & H. Van der Voort (Eds.), Reduplication in Indigenous languages of South America (pp. 185-216). Leiden: Brill.
  • Drude, S., Broeder, D., & Trilsbeek, P. (2014). The Language Archive and its solutions for sustainable endangered languages corpora. Book 2.0, 4, 5-20. doi:10.1386/btwo.4.1-2.5_1.

    Abstract

    Since the late 1990s, the technical group at the Max-Planck-Institute for Psycholinguistics has worked on solutions for important challenges in building sustainable data archives, in particular, how to guarantee long-time-availability of digital research data for future research. The support for the well-known DOBES (Documentation of Endangered Languages) programme has greatly inspired and advanced this work, and lead to the ongoing development of a whole suite of tools for annotating, cataloguing and archiving multi-media data. At the core of the LAT (Language Archiving Technology) tools is the IMDI metadata schema, now being integrated into a larger network of digital resources in the European CLARIN project. The multi-media annotator ELAN (with its web-based cousin ANNEX) is now well known not only among documentary linguists. We aim at presenting an overview of the solutions, both achieved and in development, for creating and exploiting sustainable digital data, in particular in the area of documenting languages and cultures, and their interfaces with related other developments
  • Drude, S. (2004). Wörterbuchinterpretation: Integrative Lexikographie am Beispiel des Guaraní. Tübingen: Niemeyer.

    Abstract

    This study provides an answer to the question of how dictionaries should be read. For this purpose, articles taken from an outline for a Guaraní-German dictionary geared to established lexicographic practice are provided with standardized interpretations. Each article is systematically assigned a formal sentence making its meaning explicit both for content words (including polysemes) and functional words or affixes. Integrative Linguistics proves its theoretical and practical value both for the description of Guaraní (indigenous Indian language spoken in Paraguay, Argentina and Brazil) and in metalexicographic terms.
  • Dunn, M. (2014). [Review of the book Evolutionary Linguistics by April McMahon and Robert McMahon]. American Anthropologist, 116(3), 690-691.
  • Dunn, M. (2014). Gender determined dialect variation. In G. G. Corbett (Ed.), The expression of gender (pp. 39-68). Berlin: De Gruyter.
  • Dunn, M. (2014). Language phylogenies. In C. Bowern, & B. Evans (Eds.), The Routledge handbook of historical linguistics (pp. 190-211). London: Routlege.
  • Dunn, M., & Terrill, A. (2004). Lexical comparison between Papuan languages: Inland bird and tree species. In A. Majid (Ed.), Field Manual Volume 9 (pp. 65-69). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.492942.

    Abstract

    The Pioneers project seeks to uncover relationships between the Papuan languages of Island Melanesia. One basic way to uncover linguistic relationships, either contact or genetic, is through lexical comparison. We have seen very few shared words between our Papuan languages and any other languages, either Oceanic or Papuan, but most of the words which are shared are shared because they are commonly borrowed from Oceanic languages. This task is aimed at enabling fieldworkers to collect terms for inland bird and tree species. In the past it is has proved very difficult for non-experts to identify plant and bird species, so the task consists of a booklet of colour pictures of some of the more common species, with information on the range and habits of each species, as well as some information on their cultural uses, which should enable better identification. It is intended that fieldworkers will show this book to consultants and use it as an elicitation aid.
  • Eaves, L. J., St Pourcain, B., Smith, G. D., York, T. P., & Evans, D. M. (2014). Resolving the Effects of Maternal and Offspring Genotype on Dyadic Outcomes in Genome Wide Complex Trait Analysis (“M-GCTA”). Behavior Genetics, 44(5), 445-455. doi:10.1007/s10519-014-9666-6.

    Abstract

    Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.
  • Edmunds, R., L'Hours, H., Rickards, L., Trilsbeek, P., Vardigan, M., & Mokrane, M. (2016). Core trustworthy data repositories requirements. Zenodo, 168411. doi:10.5281/zenodo.168411.

    Abstract

    The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.
  • Eekhof, L. S. (2024). Reading the mind: The relationship between social cognition and narrative processing. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Eekhof, L. S., & Mar, R. A. (2024). Does reading about fictional minds make us more curious about real ones? Language and Cognition, 16(1), 176-196. doi:10.1017/langcog.2023.30.

    Abstract

    Although there is a large body of research assessing whether exposure to narratives boosts social cognition immediately afterward, not much research has investigated the underlying mechanism of this putative effect. This experiment investigates the possibility that reading a narrative increases social curiosity directly afterward, which might explain the short-term boosts in social cognition reported by some others. We developed a novel measure of state social curiosity and collected data from participants (N = 222) who were randomly assigned to read an excerpt of narrative fiction or expository nonfiction. Contrary to our expectations, we found that those who read a narrative exhibited less social curiosity afterward than those who read an expository text. This result was not moderated by trait social curiosity. An exploratory analysis uncovered that the degree to which texts present readers with social targets predicted less social curiosity. Our experiment demonstrates that reading narratives, or possibly texts with social content in general, may engage and fatigue social-cognitive abilities, causing a temporary decrease in social curiosity. Such texts might also temporarily satisfy the need for social connection, temporarily reducing social curiosity. Both accounts are in line with theories describing how narratives result in better social cognition over the long term.
  • Ehrich, V., & Levelt, W. J. M. (Eds.). (1982). Max-Planck-Institute for Psycholinguistics: Annual Report Nr.3 1982. Nijmegen: MPI for Psycholinguistics.
  • Eising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K. and 9 moreEising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K., Palotie, A., Chasman, D. I., Ferrari, M. D., Terwindt, G. M., de Vries, B., Nyholt, D. R., Lelieveldt, B. P., van den Maagdenberg, A. M., & Reinders, M. J. (2016). Gene co‑expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS‑based study using the Allen Human Brain Atlas. Human Genetics, 135(4), 425-439. doi:10.1007/s00439-016-1638-x.

    Abstract

    Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.
  • Eising, E., De Leeuw, C., Min, J. L., Anttila, V., Verheijen, M. H. G., Terwindt, G. M., Dichgans, M., Freilinger, T., Kubisch, C., Ferrari, M. D., Smit, A. B., De Vries, B., Palotie, A., Van Den Maagdenberg, A. M. J. M., & Posthuma, D. (2016). Involvement of astrocyte and oligodendrocyte gene sets in migraine. Cephalalgia, 36(7), 640-647. doi:10.1177/0333102415618614.

    Abstract

    Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.
  • Eising, E., Vino, A., Mabie, H. L., Campbell, T. F., Shriberg, L. D., & Fisher, S. E. (2024). Genome sequencing of idiopathic speech delay. Human Mutation, 2024: 9692863. doi:10.1155/2024/9692863.

    Abstract

    Genetic investigations of people with speech and language disorders can provide windows into key aspects of human biology. Most genomic research into impaired speech development has so far focused on childhood apraxia of speech (CAS), a rare neurodevelopmental disorder characterized by difficulties with coordinating rapid fine motor sequences that underlie proficient speech. In 2001, pathogenic variants of FOXP2 provided the first molecular genetic accounts of CAS aetiology. Since then, disruptions in several other genes have been implicated in CAS, with a substantial proportion of cases being explained by high-penetrance variants. However, the genetic architecture underlying other speech-related disorders remains less well understood. Thus, in the present study, we used systematic DNA sequencing methods to investigate idiopathic speech delay, as characterized by delayed speech development in the absence of a motor speech diagnosis (such as CAS), a language/reading disorder, or intellectual disability. We performed genome sequencing in a cohort of 23 children with a rigorous diagnosis of idiopathic speech delay. For roughly half of the sample (ten probands), sufficient DNA was also available for genome sequencing in both parents, allowing discovery of de novo variants. In the thirteen singleton probands, we focused on identifying loss-of-function and likely damaging missense variants in genes intolerant to such mutations. We found that one speech delay proband carried a pathogenic frameshift deletion in SETD1A, a gene previously implicated in a broader variable monogenic syndrome characterized by global developmental problems including delayed speech and/or language development, mild intellectual disability, facial dysmorphisms, and behavioural and psychiatric symptoms. Of note, pathogenic SETD1A variants have been independently reported in children with CAS in two separate studies. In other probands in our speech delay cohort, likely pathogenic missense variants were identified affecting highly conserved amino acids in key functional domains of SPTBN1 and ARF3. Overall, this study expands the phenotype spectrum associated with pathogenic SETD1A variants, to also include idiopathic speech delay without CAS or intellectual disability, and suggests additional novel potential candidate genes that may harbour high-penetrance variants that can disrupt speech development.

    Additional information

    supplemental table
  • Emmorey, K., & Ozyurek, A. (2014). Language in our hands: Neural underpinnings of sign language and co-speech gesture. In M. S. Gazzaniga, & G. R. Mangun (Eds.), The cognitive neurosciences (5th ed., pp. 657-666). Cambridge, Mass: MIT Press.
  • Enfield, N. J. (2004). On linear segmentation and combinatorics in co-speech gesture: A symmetry-dominance construction in Lao fish trap descriptions. Semiotica, 149(1/4), 57-123. doi:10.1515/semi.2004.038.
  • Enfield, N. J., Levinson, S. C., De Ruiter, J. P., & Stivers, T. (2004). Building a corpus of multimodal interaction in your field site. In A. Majid (Ed.), Field Manual Volume 9 (pp. 32-36). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.506951.

    Abstract

    This Field Manual entry has been superceded by the 2007 version:
    https://doi.org/10.17617/2.468728

    Files private

    Request files
  • Enfield, N. J. (2014). Causal dynamics of language. In N. J. Enfield, P. Kockelman, & J. Sidnell (Eds.), The Cambridge handbook of linguistic anthropology (pp. 325-342). Cambridge: Cambridge University Press.
  • Enfield, N. J. (2004). Adjectives in Lao. In R. M. W. Dixon, & A. Y. Aikhenvald (Eds.), Adjective classes: A cross-linguistic typology (pp. 323-347). Oxford: Oxford University Press.
  • Enfield, N. J. (2004). Areal grammaticalisation of postverbal 'acquire' in mainland Southeast Asia. In S. Burusphat (Ed.), Proceedings of the 11th Southeast Asia Linguistics Society Meeting (pp. 275-296). Arizona State University: Tempe.
  • Enfield, N. J. (2004). Nominal classification in Lao: A sketch. Sprachtypologie und Universalienforschung, 57(2/3), 117-143.

Share this page