Publications

Displaying 201 - 300 of 1619
  • 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.
  • Chwilla, D., Brown, C. M., & Hagoort, P. (1995). The N400 as a function of the level of processing. Psychophysiology, 32, 274-285. doi:10.1111/j.1469-8986.1995.tb02956.x.

    Abstract

    In a semantic priming paradigm, the effects of different levels of processing on the N400 were assessed by changing the task demands. In the lexical decision task, subjects had to discriminate between words and nonwords and in the physical task, subjects had to discriminate between uppercase and lowercase letters. The proportion of related versus unrelated word pairs differed between conditions. A lexicality test on reaction times demonstrated that the physical task was performed nonlexically. Moreover, a semantic priming reaction time effect was obtained only in the lexical decision task. The level of processing clearly affected the event-related potentials. An N400 priming effect was only observed in the lexical decision task. In contrast, in the physical task a P300 effect was observed for either related or unrelated targets, depending on their frequency of occurrence. Taken together, the results indicate that an N400 priming effect is only evoked when the task performance induces the semantic aspects of words to become part of an episodic trace of the stimulus event.
  • 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.
  • Coenen, J., & Klein, W. (1992). The acquisition of Dutch. In W. Klein, & C. Perdue (Eds.), Utterance structure: Developing grammars again (pp. 189-224). Amsterdam: Benjamins.
  • 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.
  • Collins, L. J., & Chen, X. S. (2009). Ancestral RNA: The RNA biology of the eukaryotic ancestor. RNA Biology, 6(5), 495-502. doi:10.4161/rna.6.5.9551.

    Abstract

    Our knowledge of RNA biology within eukaryotes has exploded over the last five years. Within new research we see that some features that were once thought to be part of multicellular life have now been identified in several protist lineages. Hence, it is timely to ask which features of eukaryote RNA biology are ancestral to all eukaryotes. We focus on RNA-based regulation and epigenetic mechanisms that use small regulatory ncRNAs and long ncRNAs, to highlight some of the many questions surrounding eukaryotic ncRNA evolution.
  • Cooper, N., & Cutler, A. (2004). Perception of non-native phonemes in noise. In S. Kin, & M. J. Bae (Eds.), Proceedings of the 8th International Conference on Spoken Language Processing (Interspeech 2004-ICSLP) (pp. 469-472). Seoul: Sunjijn Printing Co.

    Abstract

    We report an investigation of the perception of American English phonemes by Dutch listeners proficient in English. Listeners identified either the consonant or the vowel in most possible English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios (16 dB, 8 dB, and 0 dB). Effects of signal-to-noise ratio on vowel and consonant identification are discussed as a function of syllable position and of relationship to the native phoneme inventory. Comparison of the results with previously reported data from native listeners reveals that noise affected the responding of native and non-native listeners similarly.
  • Coopmans, C. W., De Hoop, H., Kaushik, K., Hagoort, P., & Martin, A. E. (2021). Structure-(in)dependent interpretation of phrases in humans and LSTMs. In Proceedings of the Society for Computation in Linguistics (SCiL 2021) (pp. 459-463).

    Abstract

    In this study, we compared the performance of a long short-term memory (LSTM) neural network to the behavior of human participants on a language task that requires hierarchically structured knowledge. We show that humans interpret ambiguous noun phrases, such as second blue ball, in line with their hierarchical constituent structure. LSTMs, instead, only do
    so after unambiguous training, and they do not systematically generalize to novel items. Overall, the results of our simulations indicate that a model can behave hierarchically without relying on hierarchical constituent structure.
  • 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. (2018). Coordinating utterances during conversational dialogue: The role of content and timing predictions. PhD Thesis, The University of Edinburgh, Edinburgh.
  • 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
  • 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., & Allen, S. E. M. (1998). Acquiring Inuktitut. In O. L. Taylor, & L. Leonard (Eds.), Language Acquisition Across North America: Cross-Cultural And Cross-Linguistic Perspectives (pp. 245-279). San Diego, CA, USA: Singular Publishing Group, Inc.
  • Crago, M. B., Allen, S. E. M., & Pesco, D. (1998). Issues of Complexity in Inuktitut and English Child Directed Speech. In Proceedings of the twenty-ninth Annual Stanford Child Language Research Forum (pp. 37-46).
  • 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., 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.
  • Cristia, A., Ganesh, S., Casillas, M., & Ganapathy, S. (2018). Talker diarization in the wild: The case of child-centered daylong audio-recordings. In Proceedings of Interspeech 2018 (pp. 2583-2587). doi:10.21437/Interspeech.2018-2078.

    Abstract

    Speaker diarization (answering 'who spoke when') is a widely researched subject within speech technology. Numerous experiments have been run on datasets built from broadcast news, meeting data, and call centers—the task sometimes appears close to being solved. Much less work has begun to tackle the hardest diarization task of all: spontaneous conversations in real-world settings. Such diarization would be particularly useful for studies of language acquisition, where researchers investigate the speech children produce and hear in their daily lives. In this paper, we study audio gathered with a recorder worn by small children as they went about their normal days. As a result, each child was exposed to different acoustic environments with a multitude of background noises and a varying number of adults and peers. The inconsistency of speech and noise within and across samples poses a challenging task for speaker diarization systems, which we tackled via retraining and data augmentation techniques. We further studied sources of structured variation across raw audio files, including the impact of speaker type distribution, proportion of speech from children, and child age on diarization performance. We discuss the extent to which these findings might generalize to other samples of speech in the wild.
  • Croijmans, I. (2018). Wine expertise shapes olfactory language and cognition. PhD Thesis, Radboud University, Nijmegen.
  • Cronin, K. A., Schroeder, K. K. E., Rothwell, E. S., Silk, J. B., & Snowdon, C. T. (2009). Cooperatively breeding cottontop tamarins (Saguinus oedipus) do not donate rewards to their long-term mates. Journal of Comparative Psychology, 123(3), 231-241. doi:10.1037/a0015094.

    Abstract

    This study tested the hypothesis that cooperative breeding facilitates the emergence of prosocial behavior by presenting cottontop tamarins (Saguinus oedipus) with the option to provide food rewards to pair-bonded mates. In Experiment 1, tamarins could provide rewards to mates at no additional cost while obtaining rewards for themselves. Contrary to the hypothesis, tamarins did not demonstrate a preference to donate rewards, behaving similar to chimpanzees in previous studies. In Experiment 2, the authors eliminated rewards for the donor for a stricter test of prosocial behavior, while reducing separation distress and food preoccupation. Again, the authors found no evidence for a donation preference. Furthermore, tamarins were significantly less likely to deliver rewards to mates when the mate displayed interest in the reward. The results of this study contrast with those recently reported for cooperatively breeding common marmosets, and indicate that prosocial preferences in a food donation task do not emerge in all cooperative breeders. In previous studies, cottontop tamarins have cooperated and reciprocated to obtain food rewards; the current findings sharpen understanding of the boundaries of cottontop tamarins’ food-provisioning behavior.
  • 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., 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., & Jesse, A. (2021). Word stress in speech perception. In J. S. Pardo, L. C. Nygaard, & D. B. Pisoni (Eds.), The handbook of speech perception (2nd ed., pp. 239-265). Chichester: Wiley.
  • 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.
  • Cutler, A., & Otake, T. (1998). Assimilation of place in Japanese and Dutch. In R. Mannell, & J. Robert-Ribes (Eds.), Proceedings of the Fifth International Conference on Spoken Language Processing: vol. 5 (pp. 1751-1754). Sydney: ICLSP.

    Abstract

    Assimilation of place of articulation across a nasal and a following stop consonant is obligatory in Japanese, but not in Dutch. In four experiments the processing of assimilated forms by speakers of Japanese and Dutch was compared, using a task in which listeners blended pseudo-word pairs such as ranga-serupa. An assimilated blend of this pair would be rampa, an unassimilated blend rangpa. Japanese listeners produced significantly more assimilated than unassimilated forms, both with pseudo-Japanese and pseudo-Dutch materials, while Dutch listeners produced significantly more unassimilated than assimilated forms in each materials set. This suggests that Japanese listeners, whose native-language phonology involves obligatory assimilation constraints, represent the assimilated nasals in nasal-stop sequences as unmarked for place of articulation, while Dutch listeners, who are accustomed to hearing unassimilated forms, represent the same nasal segments as marked for place of articulation.
  • Ip, M. H. K., & Cutler, A. (2018). Asymmetric efficiency of juncture perception in L1 and L2. In K. Klessa, J. Bachan, A. Wagner, M. Karpiński, & D. Śledziński (Eds.), Proceedings of Speech Prosody 2018 (pp. 289-296). Baixas, France: ISCA. doi:10.21437/SpeechProsody.2018-59.

    Abstract

    In two experiments, Mandarin listeners resolved potential syntactic ambiguities in spoken utterances in (a) their native language (L1) and (b) English which they had learned as a second language (L2). A new disambiguation task was used, requiring speeded responses to select the correct meaning for structurally ambiguous sentences. Importantly, the ambiguities used in the study are identical in Mandarin and in English, and production data show that prosodic disambiguation of this type of ambiguity is also realised very similarly in the two languages. The perceptual results here showed however that listeners’ response patterns differed for L1 and L2, although there was a significant increase in similarity between the two response patterns with increasing exposure to the L2. Thus identical ambiguity and comparable disambiguation patterns in L1 and L2 do not lead to immediate application of the appropriate L1 listening strategy to L2; instead, it appears that such a strategy may have to be learned anew for the L2.
  • Cutler, A. (1985). Cross-language psycholinguistics. Linguistics, 23, 659-667.
  • Cutler, A. (1992). Cross-linguistic differences in speech segmentation. MRC News, 56, 8-9.
  • Ip, M. H. K., & Cutler, A. (2018). Cue equivalence in prosodic entrainment for focus detection. In J. Epps, J. Wolfe, J. Smith, & C. Jones (Eds.), Proceedings of the 17th Australasian International Conference on Speech Science and Technology (pp. 153-156).

    Abstract

    Using a phoneme detection task, the present series of
    experiments examines whether listeners can entrain to
    different combinations of prosodic cues to predict where focus
    will fall in an utterance. The stimuli were recorded by four
    female native speakers of Australian English who happened to
    have used different prosodic cues to produce sentences with
    prosodic focus: a combination of duration cues, mean and
    maximum F0, F0 range, and longer pre-target interval before
    the focused word onset, only mean F0 cues, only pre-target
    interval, and only duration cues. Results revealed that listeners
    can entrain in almost every condition except for where
    duration was the only reliable cue. Our findings suggest that
    listeners are flexible in the cues they use for focus processing.
  • Cutler, A., & Norris, D. (1992). Detection of vowels and consonants with minimal acoustic variation. Speech Communication, 11, 101-108. doi:10.1016/0167-6393(92)90004-Q.

    Abstract

    Previous research has shown that, in a phoneme detection task, vowels produce longer reaction times than consonants, suggesting that they are harder to perceive. One possible explanation for this difference is based upon their respective acoustic/articulatory characteristics. Another way of accounting for the findings would be to relate them to the differential functioning of vowels and consonants in the syllabic structure of words. In this experiment, we examined the second possibility. Targets were two pairs of phonemes, each containing a vowel and a consonant with similar phonetic characteristics. Subjects heard lists of English words had to press a response key upon detecting the occurrence of a pre-specified target. This time, the phonemes which functioned as vowels in syllabic structure yielded shorter reaction times than those which functioned as consonants. This rules out an explanation for response time difference between vowels and consonants in terms of function in syllable structure. Instead, we propose that consonantal and vocalic segments differ with respect to variability of tokens, both in the acoustic realisation of targets and in the representation of targets by listeners.
  • 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., Burchfield, L. A., & Antoniou, M. (2018). Factors affecting talker adaptation in a second language. In J. Epps, J. Wolfe, J. Smith, & C. Jones (Eds.), Proceedings of the 17th Australasian International Conference on Speech Science and Technology (pp. 33-36).

    Abstract

    Listeners adapt rapidly to previously unheard talkers by
    adjusting phoneme categories using lexical knowledge, in a
    process termed lexically-guided perceptual learning. Although
    this is firmly established for listening in the native language
    (L1), perceptual flexibility in second languages (L2) is as yet
    less well understood. We report two experiments examining L1
    and L2 perceptual learning, the first in Mandarin-English late
    bilinguals, the second in Australian learners of Mandarin. Both
    studies showed stronger learning in L1; in L2, however,
    learning appeared for the English-L1 group but not for the
    Mandarin-L1 group. Phonological mapping differences from
    the L1 to the L2 are suggested as the reason for this result.
  • Cutler, A. (1998). How listeners find the right words. In Proceedings of the Sixteenth International Congress on Acoustics: Vol. 2 (pp. 1377-1380). Melville, NY: Acoustical Society of America.

    Abstract

    Languages contain tens of thousands of words, but these are constructed from a tiny handful of phonetic elements. Consequently, words resemble one another, or can be embedded within one another, a coup stick snot with standing. me process of spoken-word recognition by human listeners involves activation of multiple word candidates consistent with the input, and direct competition between activated candidate words. Further, human listeners are sensitive, at an early, prelexical, stage of speeeh processing, to constraints on what could potentially be a word of the language.
  • Cutler, A. (2009). Greater sensitivity to prosodic goodness in non-native than in native listeners. Journal of the Acoustical Society of America, 125, 3522-3525. doi:10.1121/1.3117434.

    Abstract

    English listeners largely disregard suprasegmental cues to stress in recognizing words. Evidence for this includes the demonstration of Fear et al. [J. Acoust. Soc. Am. 97, 1893–1904 (1995)] that cross-splicings are tolerated between stressed and unstressed full vowels (e.g., au- of autumn, automata). Dutch listeners, however, do exploit suprasegmental stress cues in recognizing native-language words. In this study, Dutch listeners were presented with English materials from the study of Fear et al. Acceptability ratings by these listeners revealed sensitivity to suprasegmental mismatch, in particular, in replacements of unstressed full vowels by higher-stressed vowels, thus evincing greater sensitivity to prosodic goodness than had been shown by the original native listener group.
  • Cutler, A., Kearns, R., Norris, D., & Scott, D. (1992). Listeners’ responses to extraneous signals coincident with English and French speech. In J. Pittam (Ed.), Proceedings of the 4th Australian International Conference on Speech Science and Technology (pp. 666-671). Canberra: Australian Speech Science and Technology Association.

    Abstract

    English and French listeners performed two tasks - click location and speeded click detection - with both English and French sentences, closely matched for syntactic and phonological structure. Clicks were located more accurately in open- than in closed-class words in both English and French; they were detected more rapidly in open- than in closed-class words in English, but not in French. The two listener groups produced the same pattern of responses, suggesting that higher-level linguistic processing was not involved in these tasks.
  • Cutler, A., & Farrell, J. (2018). Listening in first and second language. In J. I. Liontas (Ed.), The TESOL encyclopedia of language teaching. New York: Wiley. doi:10.1002/9781118784235.eelt0583.

    Abstract

    Listeners' recognition of spoken language involves complex decoding processes: The continuous speech stream must be segmented into its component words, and words must be recognized despite great variability in their pronunciation (due to talker differences, or to influence of phonetic context, or to speech register) and despite competition from many spuriously present forms supported by the speech signal. L1 listeners deal more readily with all levels of this complexity than L2 listeners. Fortunately, the decoding processes necessary for competent L2 listening can be taught in the classroom. Evidence-based methodologies targeted at the development of efficient speech decoding include teaching of minimal pairs, of phonotactic constraints, and of reduction processes, as well as the use of dictation and L2 video captions.
  • Cutler, A., Davis, C., & Kim, J. (2009). Non-automaticity of use of orthographic knowledge in phoneme evaluation. In Proceedings of the 10th Annual Conference of the International Speech Communication Association (Interspeech 2009) (pp. 380-383). Causal Productions Pty Ltd.

    Abstract

    Two phoneme goodness rating experiments addressed the role of orthographic knowledge in the evaluation of speech sounds. Ratings for the best tokens of /s/ were higher in words spelled with S (e.g., bless) than in words where /s/ was spelled with C (e.g., voice). This difference did not appear for analogous nonwords for which every lexical neighbour had either S or C spelling (pless, floice). Models of phonemic processing incorporating obligatory influence of lexical information in phonemic processing cannot explain this dissociation; the data are consistent with models in which phonemic decisions are not subject to necessary top-down lexical influence.
  • Cutler, A., & Pearson, M. (1985). On the analysis of prosodic turn-taking cues. In C. Johns-Lewis (Ed.), Intonation in discourse (pp. 139-155). London: Croom Helm.
  • Cutler, A., Treiman, R., & Van Ooijen, B. (1998). Orthografik inkoncistensy ephekts in foneme detektion? In R. Mannell, & J. Robert-Ribes (Eds.), Proceedings of the Fifth International Conference on Spoken Language Processing: Vol. 6 (pp. 2783-2786). Sydney: ICSLP.

    Abstract

    The phoneme detection task is widely used in spoken word recognition research. Alphabetically literate participants, however, are more used to explicit representations of letters than of phonemes. The present study explored whether phoneme detection is sensitive to how target phonemes are, or may be, orthographically realised. Listeners detected the target sounds [b,m,t,f,s,k] in word-initial position in sequences of isolated English words. Response times were faster to the targets [b,m,t], which have consistent word-initial spelling, than to the targets [f,s,k], which are inconsistently spelled, but only when listeners’ attention was drawn to spelling by the presence in the experiment of many irregularly spelled fillers. Within the inconsistent targets [f,s,k], there was no significant difference between responses to targets in words with majority and minority spellings. We conclude that performance in the phoneme detection task is not necessarily sensitive to orthographic effects, but that salient orthographic manipulation can induce such sensitivity.
  • Cutler, A. (1985). Performance measures of lexical complexity. In G. Hoppenbrouwers, P. A. Seuren, & A. Weijters (Eds.), Meaning and the lexicon (pp. 75). Dordrecht: Foris.
  • Cutler, A., & Chen, H.-C. (1995). Phonological similarity effects in Cantonese word recognition. In K. Elenius, & P. Branderud (Eds.), Proceedings of the Thirteenth International Congress of Phonetic Sciences: Vol. 1 (pp. 106-109). Stockholm: Stockholm University.

    Abstract

    Two lexical decision experiments in Cantonese are described in which the recognition of spoken target words as a function of phonological similarity to a preceding prime is investigated. Phonological similaritv in first syllables produced inhibition, while similarity in second syllables led to facilitation. Differences between syllables in tonal and segmental structure had generally similar effects.
  • Cutler, A. (1992). Proceedings with confidence. New Scientist, (1825), 54.
  • Cutler, A. (1992). Processing constraints of the native phonological repertoire on the native language. In Y. Tohkura, E. Vatikiotis-Bateson, & Y. Sagisaka (Eds.), Speech perception, production and linguistic structure (pp. 275-278). Tokyo: Ohmsha.
  • Cutler, A. (1998). Prosodic structure and word recognition. In A. D. Friederici (Ed.), Language comprehension: A biological perspective (pp. 41-70). Heidelberg: Springer.
  • Cutler, A. (2009). Psycholinguistics in our time. In P. Rabbitt (Ed.), Inside psychology: A science over 50 years (pp. 91-101). Oxford: Oxford University Press.
  • Cutler, A. (1992). Psychology and the segment. In G. Docherty, & D. Ladd (Eds.), Papers in laboratory phonology II: Gesture, segment, prosody (pp. 290-295). Cambridge: Cambridge University Press.
  • Cutler, A. (1975). Sentence stress and sentence comprehension. PhD Thesis, University of Texas, Austin.
  • Cutler, A. (1995). Spoken word recognition and production. In J. L. Miller, & P. D. Eimas (Eds.), Speech, language and communication (pp. 97-136). New York: Academic Press.

    Abstract

    This chapter highlights that most language behavior consists of speaking and listening. The chapter also reveals differences and similarities between speaking and listening. The laboratory study of word production raises formidable problems; ensuring that a particular word is produced may subvert the spontaneous production process. Word production is investigated via slips and tip-of-the-tongue (TOT), primarily via instances of processing failure and via the technique of via the picture-naming task. The methodology of word production is explained in the chapter. The chapter also explains the phenomenon of interaction between various stages of word production and the process of speech recognition. In this context, it explores the difference between sound and meaning and examines whether or not the comparisons are appropriate between the processes of recognition and production of spoken words. It also describes the similarities and differences in the structure of the recognition and production systems. Finally, the chapter highlights the common issues in recognition and production research, which include the nuances of frequency of occurrence, morphological structure, and phonological structure.
  • Cutler, A. (1995). Spoken-word recognition. In G. Bloothooft, V. Hazan, D. Hubert, & J. Llisterri (Eds.), European studies in phonetics and speech communication (pp. 66-71). Utrecht: OTS.
  • Cutler, A., & Robinson, T. (1992). Response time as a metric for comparison of speech recognition by humans and machines. In J. Ohala, T. Neary, & B. Derwing (Eds.), Proceedings of the Second International Conference on Spoken Language Processing: Vol. 1 (pp. 189-192). Alberta: University of Alberta.

    Abstract

    The performance of automatic speech recognition systems is usually assessed in terms of error rate. Human speech recognition produces few errors, but relative difficulty of processing can be assessed via response time techniques. We report the construction of a measure analogous to response time in a machine recognition system. This measure may be compared directly with human response times. We conducted a trial comparison of this type at the phoneme level, including both tense and lax vowels and a variety of consonant classes. The results suggested similarities between human and machine processing in the case of consonants, but differences in the case of vowels.
  • Cutler, A., & Butterfield, S. (1992). Rhythmic cues to speech segmentation: Evidence from juncture misperception. Journal of Memory and Language, 31, 218-236. doi:10.1016/0749-596X(92)90012-M.

    Abstract

    Segmentation of continuous speech into its component words is a nontrivial task for listeners. Previous work has suggested that listeners develop heuristic segmentation procedures based on experience with the structure of their language; for English, the heuristic is that strong syllables (containing full vowels) are most likely to be the initial syllables of lexical words, whereas weak syllables (containing central, or reduced, vowels) are nonword-initial, or, if word-initial, are grammatical words. This hypothesis is here tested against natural and laboratory-induced missegmentations of continuous speech. Precisely the expected pattern is found: listeners erroneously insert boundaries before strong syllables but delete them before weak syllables; boundaries inserted before strong syllables produce lexical words, while boundaries inserted before weak syllables produce grammatical words.
  • Cutler, A. (1995). The perception of rhythm in spoken and written language. In J. Mehler, & S. Franck (Eds.), Cognition on cognition (pp. 283-288). Cambridge, MA: MIT Press.
  • Cutler, A. (1992). The perception of speech: Psycholinguistic aspects. In W. Bright (Ed.), International encyclopedia of language: Vol. 3 (pp. 181-183). New York: Oxford University Press.
  • Cutler, A. (1992). The production and perception of word boundaries. In Y. Tohkura, E. Vatikiotis-Bateson, & Y. Sagisaka (Eds.), Speech perception, production and linguistic structure (pp. 419-425). Tokyo: Ohsma.
  • Cutler, A., & McQueen, J. M. (1995). The recognition of lexical units in speech. In B. De Gelder, & J. Morais (Eds.), Speech and reading: A comparative approach (pp. 33-47). Hove, UK: Erlbaum.
  • Cutler, A. (1998). The recognition of spoken words with variable representations. In D. Duez (Ed.), Proceedings of the ESCA Workshop on Sound Patterns of Spontaneous Speech (pp. 83-92). Aix-en-Provence: Université de Aix-en-Provence.
  • Cutler, A., Hawkins, J. A., & Gilligan, G. (1985). The suffixing preference: A processing explanation. Linguistics, 23, 723-758.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1992). The monolingual nature of speech segmentation by bilinguals. Cognitive Psychology, 24, 381-410.

    Abstract

    Monolingual French speakers employ a syllable-based procedure in speech segmentation; monolingual English speakers use a stress-based segmentation procedure and do not use the syllable-based procedure. In the present study French-English bilinguals participated in segmentation experiments with English and French materials. Their results as a group did not simply mimic the performance of English monolinguals with English language materials and of French monolinguals with French language materials. Instead, the bilinguals formed two groups, defined by forced choice of a dominant language. Only the French-dominant group showed syllabic segmentation and only with French language materials. The English-dominant group showed no syllabic segmentation in either language. However, the English-dominant group showed stress-based segmentation with English language materials; the French-dominant group did not. We argue that rhythmically based segmentation procedures are mutually exclusive, as a consequence of which speech segmentation by bilinguals is, in one respect at least, functionally monolingual.
  • Cutler, A., Otake, T., & McQueen, J. M. (2009). Vowel devoicing and the perception of spoken Japanese words. Journal of the Acoustical Society of America, 125(3), 1693-1703. doi:10.1121/1.3075556.

    Abstract

    Three experiments, in which Japanese listeners detected Japanese words embedded in nonsense sequences, examined the perceptual consequences of vowel devoicing in that language. Since vowelless sequences disrupt speech segmentation [Norris et al. (1997). Cognit. Psychol. 34, 191– 243], devoicing is potentially problematic for perception. Words in initial position in nonsense sequences were detected more easily when followed by a sequence containing a vowel than by a vowelless segment (with or without further context), and vowelless segments that were potential devoicing environments were no easier than those not allowing devoicing. Thus asa, “morning,” was easier in asau or asazu than in all of asap, asapdo, asaf, or asafte, despite the fact that the /f/ in the latter two is a possible realization of fu, with devoiced [u]. Japanese listeners thus do not treat devoicing contexts as if they always contain vowels. Words in final position in nonsense sequences, however, produced a different pattern: here, preceding vowelless contexts allowing devoicing impeded word detection less strongly (so, sake was detected less accurately, but not less rapidly, in nyaksake—possibly arising from nyakusake—than in nyagusake). This is consistent with listeners treating consonant sequences as potential realizations of parts of existing lexical candidates wherever possible.
  • Cutler, A. (1992). Why not abolish psycholinguistics? In W. Dressler, H. Luschützky, O. Pfeiffer, & J. Rennison (Eds.), Phonologica 1988 (pp. 77-87). Cambridge: Cambridge University Press.
  • Cutler, A., & Fay, D. (1975). You have a Dictionary in your Head, not a Thesaurus. Texas Linguistic Forum, 1, 27-40.
  • Cutler, A. (1995). Universal and Language-Specific in the Development of Speech. Biology International, (Special Issue 33).
  • 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
  • Dabrowska, E., Rowland, C. F., & Theakston, A. (2009). The acquisition of questions with long-distance dependencies. Cognitive Linguistics, 20(3), 571-597. doi:10.1515/COGL.2009.025.

    Abstract

    A number of researchers have claimed that questions and other constructions with long distance dependencies (LDDs) are acquired relatively early, by age 4 or even earlier, in spite of their complexity. Analysis of LDD questions in the input available to children suggests that they are extremely stereotypical, raising the possibility that children learn lexically specific templates such as WH do you think S-GAP? rather than general rules of the kind postulated in traditional linguistic accounts of this construction. We describe three elicited imitation experiments with children aged from 4;6 to 6;9 and adult controls. Participants were asked to repeat prototypical questions (i.e., questions which match the hypothesised template), unprototypical questions (which depart from it in several respects) and declarative counterparts of both types of interrogative sentences. The children performed significantly better on the prototypical variants of both constructions, even when both variants contained exactly the same lexical material, while adults showed prototypicality e¤ects for LDD questions only. These results suggest that a general declarative complementation construction emerges quite late in development (after age 6), and that even adults rely on lexically specific templates for LDD questions.
  • 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
  • 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.
  • Danziger, E. (1995). Intransitive predicate form class survey. In D. Wilkins (Ed.), Extensions of space and beyond: manual for field elicitation for the 1995 field season (pp. 46-53). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.3004298.

    Abstract

    Different linguistic structures allow us to highlight distinct aspects of a situation. The aim of this survey is to investigate similarities and differences in the expression of situations or events as “stative” (maintaining a state), “inchoative” (adopting a state) and “agentive” (causing something to be in a state). The questionnaire focuses on the encoding of stative, inchoative and agentive possibilities for the translation equivalents of a set of English verbs.
  • Danziger, E. (1995). Posture verb survey. In D. Wilkins (Ed.), Extensions of space and beyond: manual for field elicitation for the 1995 field season (pp. 33-34). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.3004235.

    Abstract

    Expressions of human activities and states are a rich area for cross-linguistic comparison. Some languages of the world treat human posture verbs (e.g., sit, lie, kneel) as a special class of predicates, with distinct formal properties. This survey examines lexical, semantic and grammatical patterns for posture verbs, with special reference to contrasts between “stative” (maintaining a posture), “inchoative” (adopting a posture), and “agentive” (causing something to adopt a posture) constructions. The enquiry is thematically linked to the more general questionnaire 'Intransitive Predicate Form Class Survey'.
  • Davids, N. (2009). Neurocognitive markers of phonological processing: A clinical perspective. PhD Thesis, Radboud University Nijmegen, Nijmegen.
  • Davids, N., Van den Brink, D., Van Turennout, M., Mitterer, H., & Verhoeven, L. (2009). Towards neurophysiological assessment of phonemic discrimination: Context effects of the mismatch negativity. Clinical Neurophysiology, 120, 1078-1086. doi:10.1016/j.clinph.2009.01.018.

    Abstract

    This study focusses on the optimal paradigm for simultaneous assessment of auditory and phonemic discrimination in clinical populations. We investigated (a) whether pitch and phonemic deviants presented together in one sequence are able to elicit mismatch negativities (MMNs) in healthy adults and (b) whether MMN elicited by a change in pitch is modulated by the presence of the phonemic deviants.
  • Davidson, D. J., & Indefrey, P. (2009). An event-related potential study on changes of violation and error responses during morphosyntactic learning. Journal of Cognitive Neuroscience, 21(3), 433-446. Retrieved from http://www.mitpressjournals.org/doi/pdf/10.1162/jocn.2008.21031.

    Abstract

    Based on recent findings showing electrophysiological changes in adult language learners after relatively short periods of training, we hypothesized that adult Dutch learners of German would show responses to German gender and adjective declension violations after brief instruction. Adjective declension in German differs from previously studied morphosyntactic regularities in that the required suffixes depend not only on the syntactic case, gender, and number features to be expressed, but also on whether or not these features are already expressed on linearly preceding elements in the noun phrase. Violation phrases and matched controls were presented over three test phases (pretest and training on the first day, and a posttest one week later). During the pretest, no electrophysiological differences were observed between violation and control conditions, and participants’ classification performance was near chance. During the training and posttest phases, classification improved, and there was a P600-like violation response to declension but not gender violations. An error-related response during training was associated with improvement in grammatical discrimination from pretest to posttest. The results show that rapid changes in neuronal responses can be observed in adult learners of a complex morphosyntactic rule, and also that error-related electrophysiological responses may relate to grammar acquisition.
  • Davidson, D. J., & Indefrey, P. (2009). Plasticity of grammatical recursion in German learners of Dutch. Language and Cognitive Processes, 24, 1335-1369. doi:10.1080/01690960902981883.

    Abstract

    Previous studies have examined cross-serial and embedded complement clauses in West Germanic in order to distinguish between different types of working memory models of human sentence processing, as well as different formal language models. Here, adult plasticity in the use of these constructions is investigated by examining the response of German-speaking learners of Dutch using magnetoencephalography (MEG). In three experimental sessions spanning their initial acquisition of Dutch, participants performed a sentence-scene matching task with Dutch sentences including two different verb constituent orders (Dutch verb order, German verb order), and in addition rated similar constructions in a separate rating task. The average planar gradient of the evoked field to the initial verb within the cluster revealed a larger evoked response for the German order relative to the Dutch order between 0.2 to 0.4 s over frontal sensors after 2 weeks, but not initially. The rating data showed that constructions consistent with Dutch grammar, but inconsistent with the German grammar were initially rated as unacceptable, but this preference reversed after 3 months. The behavioural and electrophysiological results suggest that cortical responses to verb order preferences in complement clauses can change within 3 months after the onset of adult language learning, implying that this aspect of grammatical processing remains plastic into adulthood.
  • Davies, R., Kidd, E., & Lander, K. (2009). Investigating the psycholinguistic correlates of speechreading in preschool age children. International Journal of Language & Communication Disorders, 44(2), 164-174. doi:10.1080/13682820801997189.

    Abstract

    Background: Previous research has found that newborn infants can match phonetic information in the lips and voice from as young as ten weeks old. There is evidence that access to visual speech is necessary for normal speech development. Although we have an understanding of this early sensitivity, very little research has investigated older children's ability to speechread whole words. Aims: The aim of this study was to identify aspects of preschool children's linguistic knowledge and processing ability that may contribute to speechreading ability. We predicted a significant correlation between receptive vocabulary and speechreading, as well as phonological working memory to be a predictor of speechreading performance. Methods & Procedures: Seventy-six children (n = 76) aged between 2;10 and 4;11 years participated. Children were given three pictures and were asked to point to the picture that they thought that the experimenter had silently mouthed (ten trials). Receptive vocabulary and phonological working memory were also assessed. The results were analysed using Pearson correlations and multiple regressions. Outcomes & Results: The results demonstrated that the children could speechread at a rate greater than chance. Pearson correlations revealed significant, positive correlations between receptive vocabulary and speechreading score, phonological error rate and age. Further correlations revealed significant, positive relationships between The Children's Test of Non-Word Repetition (CNRep) and speechreading score, phonological error rate and age. Multiple regression analyses showed that receptive vocabulary best predicts speechreading ability over and above phonological working memory. Conclusions & Implications: The results suggest that preschool children are capable of speechreading, and that this ability is related to vocabulary size. This suggests that children aged between 2;10 and 4;11 are sensitive to visual information in the form of audio-visual mappings. We suggest that current and future therapies are correct to include visual feedback as a therapeutic tool; however, future research needs to be conducted in order to elucidate further the role of speechreading in development.
  • 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. (2009). Genetic biasing through cultural transmission: Do simple Bayesian models of language evolution generalize? Journal of Theoretical Biology, 259, 552-561. doi:10.1016/j.jtbi.2009.04.004.

    Abstract

    The recent Bayesian approaches to language evolution and change seem to suggest that genetic biases can impact on the characteristics of language, but, at the same time, that its cultural transmission can partially free it from these same genetic constraints. One of the current debates centres on the striking differences between sampling and a posteriori maximising Bayesian learners, with the first converging on the prior bias while the latter allows a certain freedom to language evolution. The present paper shows that this difference disappears if populations more complex than a single teacher and a single learner are considered, with the resulting behaviours more similar to the sampler. This suggests that generalisations based on the language produced by Bayesian agents in such homogeneous single agent chains are not warranted. It is not clear which of the assumptions in such models are responsible, but these findings seem to support the rising concerns on the validity of the “acquisitionist” assumption, whereby the locus of language change and evolution is taken to be the first language acquirers (children) as opposed to the competent language users (the adults).
  • 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.
  • Delgado, T., Ravignani, A., Verhoef, T., Thompson, B., Grossi, T., & Kirby, S. (2018). Cultural transmission of melodic and rhythmic universals: Four experiments and a model. In C. Cuskley, M. Flaherty, H. Little, L. McCrohon, A. Ravignani, & T. Verhoef (Eds.), Proceedings of the 12th International Conference on the Evolution of Language (EVOLANG XII) (pp. 89-91). Toruń, Poland: NCU Press. doi:10.12775/3991-1.019.
  • 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
  • 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 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.
  • 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
  • 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
  • Devanna, P., Chen, X. S., Ho, J., Gajewski, D., Smith, S. D., Gialluisi, A., Francks, C., Fisher, S. E., Newbury, D. F., & Vernes, S. C. (2018). Next-gen sequencing identifies non-coding variation disrupting miRNA binding sites in neurological disorders. Molecular Psychiatry, 23(5), 1375-1384. doi:10.1038/mp.2017.30.

    Abstract

    Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

    Additional information

    mp201730x1.docx
  • Díaz-Caneja, C. M., Alloza, C., Gordaliza, P. M., Fernández Pena, A., De Hoyos, L., Santonja, J., Buimer, E. E. L., Van Haren, N. E. M., Cahn, W., Arango, C., Kahn, R. S., Hulshoff Pol, H. E., Schnack, H. G., & Janssen, J. (2021). Sex differences in lifespan trajectories and variability of human sulcal and gyral morphology. Cerebral Cortex, 31(11), 5107-5120. doi:10.1093/cercor/bhab145.

    Abstract

    Sex differences in development and aging of human sulcal morphology have been understudied. We charted sex differences in trajectories and inter-individual variability of global sulcal depth, width, and length, pial surface area, exposed (hull) gyral surface area, unexposed sulcal surface area, cortical thickness, and cortex volume across the lifespan in a longitudinal sample (700 scans, 194 participants two scans, 104 three scans, age range: 16-70 years) of neurotypical males and females. After adjusting for brain volume, females had thicker cortex and steeper thickness decline until age 40 years; trajectories converged thereafter. Across sexes, sulcal shortening was faster before age 40, while sulcal shallowing and widening were faster thereafter. While hull area remained stable, sulcal surface area declined and was more strongly associated with sulcal shortening than with sulcal shallowing and widening. Males showed greater variability for cortex volume and thickness and lower variability for sulcal width. Across sexes, variability decreased with age for all measures except for cortical volume and thickness. Our findings highlight the association between loss of sulcal area, notably through sulcal shortening, with cortex volume loss. Studying sex differences in lifespan trajectories may improve knowledge of individual differences in brain development and the pathophysiology of neuropsychiatric conditions.

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