Publications

Displaying 201 - 300 of 1413
  • 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., & Norris, D. (2016). Bottoms up! How top-down pitfalls ensnare speech perception researchers too. Commentary on C. Firestone & B. Scholl: Cognition does not affect perception: Evaluating the evidence for 'top-down' effects. Behavioral and Brain Sciences, e236. doi:10.1017/S0140525X15002745.

    Abstract

    Not only can the pitfalls that Firestone & Scholl (F&S) identify be generalised across multiple studies within the field of visual perception, but also they have general application outside the field wherever perceptual and cognitive processing are compared. We call attention to the widespread susceptibility of research on the perception of speech to versions of the same pitfalls.
  • Cutler, A. (2010). Abstraction-based efficiency in the lexicon. Laboratory Phonology, 1(2), 301-318. doi:10.1515/LABPHON.2010.016.

    Abstract

    Listeners learn from their past experience of listening to spoken words, and use this learning to maximise the efficiency of future word recognition. This paper summarises evidence that the facilitatory effects of drawing on past experience are mediated by abstraction, enabling learning to be generalised across new words and new listening situations. Phoneme category retuning, which allows adaptation to speaker-specific articulatory characteristics, is generalised on the basis of relatively brief experience to words previously unheard from that speaker. Abstract knowledge of prosodic regularities is applied to recognition even of novel words for which these regularities were violated. Prosodic word-boundary regularities drive segmentation of speech into words independently of the membership of the lexical candidate set resulting from the segmentation operation. Each of these different cases illustrates how abstraction from past listening experience has contributed to the efficiency of lexical recognition.
  • Cutler, A. (1992). Cross-linguistic differences in speech segmentation. MRC News, 56, 8-9.
  • 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., Norris, D., & McQueen, J. M. (1994). Modelling lexical access from continuous speech input. Dokkyo International Review, 7, 193-215.

    Abstract

    The recognition of speech involves the segmentation of continuous utterances into their component words. Cross-linguistic evidence is briefly reviewed which suggests that although there are language-specific solutions to this segmentation problem, they have one thing in common: they are all based on language rhythm. In English, segmentation is stress-based: strong syllables are postulated to be the onsets of words. Segmentation, however, can also be achieved by a process of competition between activated lexical hypotheses, as in the Shortlist model. A series of experiments is summarised showing that segmentation of continuous speech depends on both lexical competition and a metrically-guided procedure. In the final section, the implementation of metrical segmentation in the Shortlist model is described: the activation of lexical hypotheses matching strong syllables in the input is boosted and that of hypotheses mismatching strong syllables in the input is penalised.
  • Cutler, A., & Otake, T. (1994). Mora or phoneme? Further evidence for language-specific listening. Journal of Memory and Language, 33, 824-844. doi:10.1006/jmla.1994.1039.

    Abstract

    Japanese listeners detect speech sound targets which correspond precisely to a mora (a phonological unit which is the unit of rhythm in Japanese) more easily than targets which do not. English listeners detect medial vowel targets more slowly than consonants. Six phoneme detection experiments investigated these effects in both subject populations, presented with native- and foreign-language input. Japanese listeners produced faster and more accurate responses to moraic than to nonmoraic targets both in Japanese and, where possible, in English; English listeners responded differently. The detection disadvantage for medial vowels appeared with English listeners both in English and in Japanese; again, Japanese listeners responded differently. Some processing operations which listeners apply to speech input are language-specific; these language-specific procedures, appropriate for listening to input in the native language, may be applied to foreign-language input irrespective of whether they remain appropriate.
  • Cutler, A. (1992). Proceedings with confidence. New Scientist, (1825), 54.
  • Cutler, A., Treiman, R., & Van Ooijen, B. (2010). Strategic deployment of orthographic knowledge in phoneme detection. Language and Speech, 53(3), 307 -320. doi:10.1177/0023830910371445.

    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 realized. 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 spelling was rendered salient by the presence in the experiment of many irregularly spelled filler words. Within the inconsistent targets [f, s, k], there was no significant difference between responses to targets in words with more usual (foam, seed, cattle) versus less usual (phone, cede, kettle) spellings. Phoneme detection is thus not necessarily sensitive to orthographic effects; knowledge of spelling stored in the lexical representations of words does not automatically become available as word candidates are activated. However, salient orthographic manipulations in experimental input can induce such sensitivity. We attribute this to listeners' experience of the value of spelling in everyday situations that encourage phonemic decisions (such as learning new names)
  • 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., Cooke, M., & Lecumberri, M. L. G. (2010). Preface. Speech Communication, 52, 863. doi:10.1016/j.specom.2010.11.003.

    Abstract

    Adverse listening conditions always make the perception of speech harder, but their deleterious effect is far greater if the speech we are trying to understand is in a non-native language. An imperfect signal can be coped with by recourse to the extensive knowledge one has of a native language, and imperfect knowledge of a non-native language can still support useful communication when speech signals are high-quality. But the combination of imperfect signal and imperfect knowledge leads rapidly to communication breakdown. This phenomenon is undoubtedly well known to every reader of Speech Communication from personal experience. Many readers will also have a professional interest in explaining, or remedying, the problems it produces. The journal’s readership being a decidedly interdisciplinary one, this interest will involve quite varied scientific approaches, including (but not limited to) modelling the interaction of first and second language vocabularies and phonemic repertoires, developing targeted listening training for language learners, and redesigning the acoustics of classrooms and conference halls. In other words, the phenomenon that this special issue deals with is a well-known one, that raises important scientific and practical questions across a range of speech communication disciplines, and Speech Communication is arguably the ideal vehicle for presentation of such a breadth of approaches in a single volume. The call for papers for this issue elicited a large number of submissions from across the full range of the journal’s interdisciplinary scope, requiring the guest editors to apply very strict criteria to the final selection. Perhaps unique in the history of treatments of this topic is the combination represented by the guest editors for this issue: a phonetician whose primary research interest is in second-language speech (MLGL), an engineer whose primary research field is the acoustics of masking in speech processing (MC), and a psychologist whose primary research topic is the recognition of spoken words (AC). In the opening article of the issue, these three authors together review the existing literature on listening to second-language speech under adverse conditions, bringing together these differing perspectives for the first time in a single contribution. The introductory review is followed by 13 new experimental reports of phonetic, acoustic and psychological studies of the topic. The guest editors thank Speech Communication editor Marc Swerts and the journal’s team at Elsevier, as well as all the reviewers who devoted time and expert efforts to perfecting the contributions to this issue.
  • Cutler, A. (1994). The perception of rhythm in language. Cognition, 50, 79-81. doi:10.1016/0010-0277(94)90021-3.
  • 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.
  • 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
  • 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., McQueen, J. M., Hagoort, P., & Kösem, A. (2017). Pure linguistic interference during comprehension of competing speech signals. The Journal of the Acoustical Society of America, 141, EL249-EL254. doi:10.1121/1.4977590.

    Abstract

    Speech-in-speech perception can be challenging because the processing of competing acoustic and linguistic information leads to informational masking. Here, a method is proposed to isolate the linguistic component of informational masking while keeping the distractor's acoustic information unchanged. Participants performed a dichotic listening cocktail-party task before and after training on 4-band noise-vocoded sentences that became intelligible through the training. Distracting noise-vocoded speech interfered more with target speech comprehension after training (i.e., when intelligible) than before training (i.e., when unintelligible) at −3 dB SNR. These findings confirm that linguistic and acoustic information have distinct masking effects during speech-in‐speech comprehension
  • D'Alessandra, Y., Devanna, P., Limana, F., Straino, S., Di Carlo, A., Brambilla, P. G., Rubino, M., Carena, M. C., Spazzafumo, L., De Simone, M., Micheli, B., Biglioli, P., Achilli, F., Martelli, F., Maggiolini, S., Marenzi, G., Pompilio, G., & Capogrossi, M. C. (2010). Circulating microRNAs are new and sensitive biomarkers of myocardial infarction. European Heart Journal, 31(22), 2765-2773. doi:10.1093/eurheartj/ehq167.

    Abstract

    Aims Circulating microRNAs (miRNAs) may represent a novel class of biomarkers; therefore, we examined whether acute myocardial infarction (MI) modulates miRNAs plasma levels in humans and mice. Methods and results Healthy donors (n = 17) and patients (n = 33) with acute ST-segment elevation MI (STEMI) were evaluated. In one cohort (n = 25), the first plasma sample was obtained 517 ± 309 min after the onset of MI symptoms and after coronary reperfusion with percutaneous coronary intervention (PCI); miR-1, -133a, -133b, and -499-5p were ∼15- to 140-fold control, whereas miR-122 and -375 were ∼87–90% lower than control; 5 days later, miR-1, -133a, -133b, -499-5p, and -375 were back to baseline, whereas miR-122 remained lower than control through Day 30. In additional patients (n = 8; four treated with thrombolysis and four with PCI), miRNAs and troponin I (TnI) were quantified simultaneously starting 156 ± 72 min after the onset of symptoms and at different times thereafter. Peak miR-1, -133a, and -133b expression and TnI level occurred at a similar time, whereas miR-499-5p exhibited a slower time course. In mice, miRNAs plasma levels and TnI were measured 15 min after coronary ligation and at different times thereafter. The behaviour of miR-1, -133a, -133b, and -499-5p was similar to STEMI patients; further, reciprocal changes in the expression levels of these miRNAs were found in cardiac tissue 3–6 h after coronary ligation. In contrast, miR-122 and -375 exhibited minor changes and no significant modulation. In mice with acute hind-limb ischaemia, there was no increase in the plasma level of the above miRNAs. Conclusion Acute MI up-regulated miR-1, -133a, -133b, and -499-5p plasma levels, both in humans and mice, whereas miR-122 and -375 were lower than control only in STEMI patients. These miRNAs represent novel biomarkers of cardiac damage.
  • Dalla Bella, S., Farrugia, F., Benoit, C.-E., Begel, V., Verga, L., Harding, E., & Kotz, S. A. (2017). BAASTA: Battery for the Assessment of Auditory Sensorimotor and Timing Abilities. Behavior Research Methods, 49(3), 1128-1145. doi:10.3758/s13428-016-0773-6.

    Abstract

    The Battery for the Assessment of Auditory Sensorimotor and Timing Abilities (BAASTA) is a new tool for the systematic assessment of perceptual and sensorimotor timing skills. It spans a broad range of timing skills aimed at differentiating individual timing profiles. BAASTA consists of sensitive time perception and production tasks. Perceptual tasks include duration discrimination, anisochrony detection (with tones and music), and a version of the Beat Alignment Task. Perceptual thresholds for duration discrimination and anisochrony detection are estimated with a maximum likelihood procedure (MLP) algorithm. Production tasks use finger tapping and include unpaced and paced tapping (with tones and music), synchronization-continuation, and adaptive tapping to a sequence with a tempo change. BAASTA was tested in a proof-of-concept study with 20 non-musicians (Experiment 1). To validate the results of the MLP procedure, less widespread than standard staircase methods, three perceptual tasks of the battery (duration discrimination, anisochrony detection with tones, and with music) were further tested in a second group of non-musicians using 2 down / 1 up and 3 down / 1 up staircase paradigms (n = 24) (Experiment 2). The results show that the timing profiles provided by BAASTA allow to detect cases of timing/rhythm disorders. In addition, perceptual thresholds yielded by the MLP algorithm, although generally comparable to the results provided by standard staircase, tend to be slightly lower. In sum, BAASTA provides a comprehensive battery to test perceptual and sensorimotor timing skills, and to detect timing/rhythm deficits.
  • Damian, M. F., & Abdel Rahman, R. (2003). Semantic priming in the naming of objects and famous faces. British Journal of Psychology, 94(4), 517-527.

    Abstract

    Researchers interested in face processing have recently debated whether access to the name of a known person occurs in parallel with retrieval of semantic-biographical codes, rather than in a sequential fashion. Recently, Schweinberger, Burton, and Kelly (2001) took a failure to obtain a semantic context effect in a manual syllable judgment task on names of famous faces as support for this position. In two experiments, we compared the effects of visually presented categorically related prime words with either objects (e.g. prime: animal; target: dog) or faces of celebrities (e.g. prime: actor; target: Bruce Willis) as targets. Targets were either manually categorized with regard to the number of syllables (as in Schweinberger et al.), or they were overtly named. For neither objects nor faces was semantic priming obtained in syllable decisions; crucially, however, priming was obtained when objects and faces were overtly named. These results suggest that both face and object naming are susceptible to semantic context effects
  • 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. (2016). A multi-layered problem. IEEE CDS Newsletter, 13, 14-15.

    Abstract

    A response to Moving Beyond Nature-Nurture: a Problem of Science or Communication? by John Spencer, Mark Blumberg and David Shenk
  • Dediu, D., & de Boer, B. (2016). Language evolution needs its own journal. Journal of Language Evolution, 1, 1-6. doi:10.1093/jole/lzv001.

    Abstract

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

    Abstract

    Our understanding of language, its origins and subsequent evolution (including language change) is shaped not only by data and theories from the language sciences, but also fundamentally by the biological sciences. Recent developments in genetics and evolutionary theory offer both very strong constraints on what scenarios of language evolution are possible and probable but also offer exciting opportunities for understanding otherwise puzzling phenomena. Due to the intrinsic breathtaking rate of advancement in these fields, the complexity, subtlety and sometimes apparent non-intuitiveness of the phenomena discovered, some of these recent developments have either being completely missed by language scientists, or misperceived and misrepresented. In this short paper, we offer an update on some of these findings and theoretical developments through a selection of illustrative examples and discussions that cast new light on current debates in the language sciences. The main message of our paper is that life is much more complex and nuanced than anybody could have predicted even a few decades ago, and that we need to be flexible in our theorizing instead of embracing a priori dogmas and trying to patch paradigms that are no longer satisfactory.
  • Dediu, D., Janssen, R., & Moisik, S. R. (2017). Language is not isolated from its wider environment: Vocal tract influences on the evolution of speech and language. Language and Communication, 54, 9-20. doi:10.1016/j.langcom.2016.10.002.

    Abstract

    Language is not a purely cultural phenomenon somehow isolated from its wider environment, and we may only understand its origins and evolution by seriously considering its embedding in this environment as well as its multimodal nature. By environment here we understand other aspects of culture (such as communication technology, attitudes towards language contact, etc.), of the physical environment (ultraviolet light incidence, air humidity, etc.), and of the biological infrastructure for language and speech. We are specifically concerned in this paper with the latter, in the form of the biases, constraints and affordances that the anatomy and physiology of the vocal tract create on speech and language. In a nutshell, our argument is that (a) there is an under-appreciated amount of inter-individual variation in vocal tract (VT) anatomy and physiology, (b) variation that is non-randomly distributed across populations, and that (c) results in systematic differences in phonetics and phonology between languages. Relevant differences in VT anatomy include the overall shape of the hard palate, the shape of the alveolar ridge, the relationship between the lower and upper jaw, to mention just a few, and our data offer a new way to systematically explore such differences and their potential impact on speech. These differences generate very small biases that nevertheless can be amplified by the repeated use and transmission of language, affecting language diachrony and resulting in cross-linguistic synchronic differences. Moreover, the same type of biases and processes might have played an essential role in the emergence and evolution of language, and might allow us a glimpse into the speech and language of extinct humans by, for example, reconstructing the anatomy of parts of their vocal tract from the fossil record and extrapolating the biases we find in present-day humans.
  • Dediu, D. (2016). Typology for the masses. Linguistic typology, 20(3), 579-581. doi:10.1515/lingty-2016-0029.
  • Defina, R. (2016). Do serial verb constructions describe single events? A study of co-speech gestures in Avatime. Language, 92(4), 890-910. doi:10.1353/lan.2016.0076.

    Abstract

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

    Additional information

    https://doi.org/10.1353/lan.2016.0069
  • Defina, R. (2016). Serial verb constructions and their subtypes in Avatime. Studies in Language, 40(3), 648-680. doi:10.1075/sl.40.3.07def.
  • 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.
  • Deriziotis, P., & Fisher, S. E. (2017). Speech and Language: Translating the Genome. Trends in Genetics, 33(9), 642-656. doi:10.1016/j.tig.2017.07.002.

    Abstract

    Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.
  • Devaraju, K., Miskinyte, G., Hansen, M. G., Monni, E., Tornero, D., Woods, N. B., Bengzon, J., Ahlenius, H., Lindvall, O., & Kokaia, Z. (2017). Direct conversion of human fibroblasts to functional excitatory cortical neurons integrating into human neural networks. Stem Cell Research & Therapy, 8: 207. doi:10.1186/s13287-017-0658-3.

    Abstract

    Background: Human fibroblasts can be directly converted to several subtypes of neurons, but cortical projection neurons have not been generated. Methods: Here we screened for transcription factor combinations that could potentially convert human fibroblasts to functional excitatory cortical neurons. The induced cortical (iCtx) cells were analyzed for cortical neuronal identity using immunocytochemistry, single-cell quantitative polymerase chain reaction (qPCR), electrophysiology, and their ability to integrate into human neural networks in vitro and ex vivo using electrophysiology and rabies virus tracing. Results: We show that a combination of three ranscription fact ors, BRN2, MYT1L, and FEZF2, have the ability to directly convert human fibroblasts to functional excitatory cortical neurons. The conversion efficiency was increased to about 16% by treatment with small molecules and microRNAs. The iCtx cells exhibited electrophysiological properties of functional neurons, had pyramidal-like cell morphology, and expressed key cortical projection neuronal markers. Single-cell analysis of iCtx cells revealed a complex gene expression profile, a subpopulation of them displaying a molecular signature closely resembling that of human fetal primary cortical neurons. The iCtx cells received synaptic inputs from co-cultured human fetal primary cortical neurons, contained spines, and expressed the postsyna ptic excitatory scaffold protein PSD95. When transplanted ex vivo to organotypic cultures of adult human cerebral cortex, the iCtx cells exhibited morphological and electrophysiological properties of mature neurons, integrated structurally into the cortical tissue, and received synaptic inputs from adult human neurons. Conclusions: Our findings indicate that functional excitatory cortical neurons, generated here for the first time by direct conversion of human somatic cells, have the capacity for synaptic integration into adult human cortex.
  • Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P. and 3 moreDias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P., Hurles, M. E., DDD Study, Fisher, S. E., & Logan, D. W. (2016). BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. The American Journal of Human Genetics, 99(2), 253-274. doi:10.1016/j.ajhg.2016.05.030.

    Abstract

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

    Abstract

    People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan
  • 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.

    Additional information

    supplementary data
  • Dima, A. L., & Dediu, D. (2016). Computation of Adherence to Medications and Visualization of Medication Histories in R with AdhereR: Towards Transparent and Reproducible Use of Electronic Healthcare Data. PLoS One, 12(4): e0174426. doi:10.1371/journal.pone.0174426.

    Abstract

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

    Abstract

    Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.
  • Dimroth, C., Andorno, C., Benazzo, S., & Verhagen, J. (2010). Given claims about new topics: How Romance and Germanic speakers link changed and maintained information in narrative discourse. Journal of Pragmatics, 42(12), 3328-3344. doi:10.1016/j.pragma.2010.05.009.

    Abstract

    This paper deals with the anaphoric linking of information units in spoken discourse in French, Italian, Dutch and German. We distinguish the information units ‘time’, ‘entity’, and ‘predicate’ and specifically investigate how speakers mark the information structure of their utterances and enhance discourse cohesion in contexts where the predicate contains given information but there is a change in one or more of the other information units. Germanic languages differ from Romance languages in the availability of a set of assertion-related particles (e.g. doch/toch, wel; roughly meaning ‘indeed’) and the option of highlighting the assertion component of a finite verb independently of its lexical content (verum focus). Based on elicited production data from 20 native speakers per language, we show that speakers of Dutch and German relate utterances to one another by focussing on this assertion component, and propose an analysis of the additive scope particles ook/auch (also) along similar lines. Speakers of Romance languages tend to highlight change or maintenance in the other information units. Such differences in the repertoire have consequences for the selection of units that are used for anaphoric linking. We conclude that there is a Germanic and a Romance way of signalling the information flow and enhancing discourse cohesion.
  • Dimroth, C. (1998). Indiquer la portée en allemand L2: Une étude longitudinale de l'acquisition des particules de portée. AILE (Acquisition et Interaction en Langue étrangère), 11, 11-34.
  • Dingemanse, M., & Akita, K. (2017). An inverse relation between expressiveness and grammatical integration: on the morphosyntactic typology of ideophones, with special reference to Japanese. Journal of Linguistics, 53(3), 501-532. doi:10.1017/S002222671600030X.

    Abstract

    Words and phrases may differ in the extent to which they are susceptible to prosodic foregrounding and expressive morphology: their expressiveness. They may also differ in the degree to which they are integrated in the morphosyntactic structure of the utterance: their grammatical integration. We describe an inverse relation that holds across widely varied languages, such that more expressiveness goes together with less grammatical integration, and vice versa. We review typological evidence for this inverse relation in 10 languages, then quantify and explain it using Japanese corpus data. We do this by tracking ideophones —vivid sensory words also known as mimetics or expressives— across different morphosyntactic contexts and measuring their expressiveness in terms of intonation, phonation and expressive morphology. We find that as expressiveness increases, grammatical integration decreases. Using gesture as a measure independent of the speech signal, we find that the most expressive ideophones are most likely to come together with iconic gestures. We argue that the ultimate cause is the encounter of two distinct and partly incommensurable modes of representation: the gradient, iconic, depictive system represented by ideophones and iconic gestures and the discrete, arbitrary, descriptive system represented by ordinary words. The study shows how people combine modes of representation in speech and demonstrates the value of integrating description and depiction into the scientific vision of language.

    Additional information

    Open data & R code
  • Dingemanse, M., Kendrick, K. H., & Enfield, N. J. (2016). A Coding Scheme for Other-Initiated Repair across Languages. Open Linguistics, 2, 35-46. doi:10.1515/opli-2016-0002.

    Abstract

    We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.
  • Dingemanse, M. (2010). [Review of Talking voices: Repetition, dialogue, and imagery in conversational discourse. 2nd edition. By Deborah Tannen]. Language in Society, 39(1), 139-140. doi:10.1017/S0047404509990765.

    Abstract

    Reviews the book, Talking voices: Repetition, dialogue, and imagery in conversational discourse. 2nd edition by Deborah Tannen. This book is the same as the 1989 original except for an added introduction. This introduction situates TV in the context of intertextuality and gives a survey of relevant research since the book first appeared. The strength of the book lies in its insightful analysis of the auditory side of conversation. Yet talking voices have always been embedded in richly contextualized multimodal speech events. As spontaneous and pervasive involvement strategies, both iconic gestures and ideophones should be of central importance to the analysis of conversational discourse. Unfortunately, someone who picks up this book is pretty much left in the dark about the prevalence of these phenomena in everyday face-to-face interaction all over the world.
  • Dingemanse, M. (2017). Expressiveness and system integration: On the typology of ideophones, with special reference to Siwu. STUF - Language Typology and Universals, 70(2), 363-384. doi:10.1515/stuf-2017-0018.

    Abstract

    Ideophones are often described as words that are highly expressive and morphosyntactically marginal. A study of ideophones in everyday conversations in Siwu (Kwa, eastern Ghana) reveals a landscape of variation and change that sheds light on some larger questions in the morphosyntactic typology of ideophones. The article documents a trade-off between expressiveness and morphosyntactic integration, with high expressiveness linked to low integration and vice versa. It also describes a pathway for deideophonisation and finds that frequency of use is a factor that influences the degree to which ideophones can come to be more like ordinary words. The findings have implications for processes of (de)ideophonisation, ideophone borrowing, and ideophone typology. A key point is that the internal diversity we find in naturally occurring data, far from being mere noise, is patterned variation that can help us to get a handle on the factors shaping ideophone systems within and across languages.
  • Dingemanse, M., Rossi, G., & Floyd, S. (2017). Place reference in story beginnings: a cross-linguistic study of narrative and interactional affordances. Language in Society, 46(2), 129-158. doi:10.1017/S0047404516001019.

    Abstract

    People often begin stories in conversation by referring to person, time, and place. We study story beginnings in three societies and find place reference is recurrently used to (i) set the stage, foreshadowing the type of story and the kind of response due, and to (ii) make the story cohere, anchoring elements of the developing story. Recipients orient to these interactional affordances of place reference by responding in ways that attend to the relevance of place for the story and by requesting clarification when references are incongruent or noticeably absent. The findings are based on 108 story beginnings in three unrelated languages: Cha’palaa, a Barbacoan language of Ecuador; Northern Italian, a Romance language of Italy; and Siwu, a Kwa language of Ghana. The commonalities suggest we have identified generic affordances of place reference, and that storytelling in conversation offers a robust sequential environment for systematic comparative research on conversational structures.
  • Dingemanse, M., Schuerman, W. L., Reinisch, E., Tufvesson, S., & Mitterer, H. (2016). What sound symbolism can and cannot do: Testing the iconicity of ideophones from five languages. Language, 92(2), e117-e133. doi:10.1353/lan.2016.0034.

    Abstract

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

    Additional information

    https://muse.jhu.edu/article/619540
  • Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H. and 26 moreDjemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B. P., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Leu, C., Marini, C., McMahon, J. M., Mei, D., Moller, R. S., Muhle, H., Myers, C. T., Nava, C., Serratosa, J. M., Sisodiya, S. M., Stephani, U., Striano, P., van Kempen, M. J., Verbeek, N. E., Usluer, S., Zara, F., Palotie, A., Mefford, H. C., Scheffer, I. E., De Jonghe, P., Helbig, I., & Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. Molecular Genetics & Genomic Medicine, 4(4), 457-64. doi:10.1002/mgg3.217.

    Abstract

    Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.
  • Donnelly, S., & Kidd, E. (2021). Onset neighborhood density slows lexical access in high vocabulary 30‐month olds. Cognitive Science, 45(9): e13022. doi:10.1111/cogs.13022.

    Abstract

    There is consensus that the adult lexicon exhibits lexical competition. In particular, substantial evidence demonstrates that words with more phonologically similar neighbors are recognized less efficiently than words with fewer neighbors. How and when these effects emerge in the child's lexicon is less clear. In the current paper, we build on previous research by testing whether phonological onset density slows lexical access in a large sample of 100 English-acquiring 30-month-olds. The children participated in a visual world looking-while-listening task, in which their attention was directed to one of two objects on a computer screen while their eye movements were recorded. We found moderate evidence of inhibitory effects of onset neighborhood density on lexical access and clear evidence for an interaction between onset neighborhood density and vocabulary, with larger effects of onset neighborhood density for children with larger vocabularies. Results suggest the lexicons of 30-month-olds exhibit lexical-level competition, with competition increasing with vocabulary size.
  • Donnelly, S., & Kidd, E. (2021). On the structure and source of individual differences in toddlers' comprehension of transitive sentences. Frontiers in Psychology, 12: 661022. doi:10.3389/fpsyg.2021.661022.

    Abstract

    How children learn grammar is one of the most fundamental questions in cognitive science. Two theoretical accounts, namely, the Early Abstraction and Usage-Based accounts, propose competing answers to this question. To compare the predictions of these accounts, we tested the comprehension of 92 24-month old children of transitive sentences with novel verbs (e.g., “The boy is gorping the girl!”) with the Intermodal Preferential Looking (IMPL) task. We found very little evidence that children looked to the target video at above-chance levels. Using mixed and mixture models, we tested the predictions the two accounts make about: (i) the structure of individual differences in the IMPL task and (ii) the relationship between vocabulary knowledge, lexical processing, and performance in the IMPL task. However, the results did not strongly support either of the two accounts. The implications for theories on language acquisition and for tasks developed for examining individual differences are discussed.

    Additional information

    data via OSF
  • Donnelly, S., & Kidd, E. (2021). The longitudinal relationship between conversational turn-taking and vocabulary growth in early language development. Child Development, 92(2), 609-625. doi:10.1111/cdev.13511.

    Abstract

    Children acquire language embedded within the rich social context of interaction. This paper reports on a longitudinal study investigating the developmental relationship between conversational turn‐taking and vocabulary growth in English‐acquiring children (N = 122) followed between 9 and 24 months. Daylong audio recordings obtained every 3 months provided several indices of the language environment, including the number of adult words children heard in their environment and their number of conversational turns. Vocabulary was measured independently via parental report. Growth curve analyses revealed a bidirectional relationship between conversational turns and vocabulary growth, controlling for the amount of words in children’s environments. The results are consistent with theoretical approaches that identify social interaction as a core component of early language acquisition.
  • Doumas, L. A. A., & Martin, A. E. (2021). A model for learning structured representations of similarity and relative magnitude from experience. Current Opinion in Behavioral Sciences, 37, 158-166. doi:10.1016/j.cobeha.2021.01.001.

    Abstract

    How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require abstract representations of stimulus properties and relations. How we acquire such representations has central importance in an account of human cognition. We briefly describe a theory of how a system can learn invariant responses to instances of similarity and relative magnitude, and how structured, relational representations can be learned from initially unstructured inputs. Two operations, comparing distributed representations and learning from the concomitant network dynamics in time, underpin the ability to learn these representations and to respond to invariance in the environment. Comparing analog representations of absolute magnitude produces invariant signals that carry information about similarity and relative magnitude. We describe how a system can then use this information to bootstrap learning structured (i.e., symbolic) concepts of relative magnitude from experience without assuming such representations a priori.
  • Drew, P., Hakulinen, A., Heinemann, T., Niemi, J., & Rossi, G. (2021). Hendiadys in naturally occurring interactions: A cross-linguistic study of double verb constructions. Journal of Pragmatics, 182, 322-347. doi:10.1016/j.pragma.2021.02.008.

    Abstract

    Double verb constructions known as hendiadys have been studied primarily in literary texts and corpora of written language. Much less is known about their properties and usage in spoken language, where expressions such as ‘come and see’, ‘go and tell’, ‘sit and talk’ are particularly common, and where we can find an even richer diversity of other constructions. In this study, we investigate hendiadys in corpora of naturally occurring social interactions in four languages, Danish, English (US and UK), Finnish and Italian, with the objective of exploring whether hendiadys is used systematically in recurrent interactional and sequential circumstances, from which it is possible to identify the pragmatic function(s) that hendiadys may serve. Examining hendiadys in conversation also offers us a special window into its grammatical properties, for example when a speaker self-corrects from a non-hendiadic to a hendiadic expression, exposing the boundary between related grammatical forms and demonstrating the distinctiveness of hendiadys in context. More broadly, we demonstrate that hendiadys is systematically associated with talk about complainable matters, in environments characterised by a conflict, dissonance, or friction that is ongoing in the interaction or that is being reported by one participant to another. We also find that the utterance in which hendiadys is used is typically in a subsequent and possibly terminal position in the sequence, summarising or concluding it. Another key finding is that the complainable or conflictual element in these interactions is expressed primarily by the first conjunct of the hendiadic construction. Whilst the first conjunct is semantically subsidiary to the second, it is pragmatically the most important one. This analysis leads us to revisit a long-established asymmetry between the verbal components of hendiadys, and to bring to light the synergy of grammar and pragmatics in language usage.
  • Drijvers, L., Jensen, O., & Spaak, E. (2021). Rapid invisible frequency tagging reveals nonlinear integration of auditory and visual information. Human Brain Mapping, 42(4), 1138-1152. doi:10.1002/hbm.25282.

    Abstract

    During communication in real-life settings, the brain integrates information from auditory and visual modalities to form a unified percept of our environment. In the current magnetoencephalography (MEG) study, we used rapid invisible frequency tagging (RIFT) to generate steady-state evoked fields and investigated the integration of audiovisual information in a semantic context. We presented participants with videos of an actress uttering action verbs (auditory; tagged at 61 Hz) accompanied by a gesture (visual; tagged at 68 Hz, using a projector with a 1440 Hz refresh rate). Integration ease was manipulated by auditory factors (clear/degraded speech) and visual factors (congruent/incongruent gesture). We identified MEG spectral peaks at the individual (61/68 Hz) tagging frequencies. We furthermore observed a peak at the intermodulation frequency of the auditory and visually tagged signals (fvisual – fauditory = 7 Hz), specifically when integration was easiest (i.e., when speech was clear and accompanied by a congruent gesture). This intermodulation peak is a signature of nonlinear audiovisual integration, and was strongest in left inferior frontal gyrus and left temporal regions; areas known to be involved in speech-gesture integration. The enhanced power at the intermodulation frequency thus reflects the ease of integration and demonstrates that speech-gesture information interacts in higher-order language areas. Furthermore, we provide a proof-of-principle of the use of RIFT to study the integration of audiovisual stimuli, in relation to, for instance, semantic context.
  • Drijvers, L., Mulder, K., & Ernestus, M. (2016). Alpha and gamma band oscillations index differential processing of acoustically reduced and full forms. Brain and Language, 153-154, 27-37. doi:10.1016/j.bandl.2016.01.003.

    Abstract

    Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.
  • Drijvers, L., & Ozyurek, A. (2017). Visual context enhanced: The joint contribution of iconic gestures and visible speech to degraded speech comprehension. Journal of Speech, Language, and Hearing Research, 60, 212-222. doi:10.1044/2016_JSLHR-H-16-0101.

    Abstract

    Purpose This study investigated whether and to what extent iconic co-speech gestures contribute to information from visible speech to enhance degraded speech comprehension at different levels of noise-vocoding. Previous studies of the contributions of these 2 visual articulators to speech comprehension have only been performed separately.

    Method Twenty participants watched videos of an actress uttering an action verb and completed a free-recall task. The videos were presented in 3 speech conditions (2-band noise-vocoding, 6-band noise-vocoding, clear), 3 multimodal conditions (speech + lips blurred, speech + visible speech, speech + visible speech + gesture), and 2 visual-only conditions (visible speech, visible speech + gesture).

    Results Accuracy levels were higher when both visual articulators were present compared with 1 or none. The enhancement effects of (a) visible speech, (b) gestural information on top of visible speech, and (c) both visible speech and iconic gestures were larger in 6-band than 2-band noise-vocoding or visual-only conditions. Gestural enhancement in 2-band noise-vocoding did not differ from gestural enhancement in visual-only conditions.
  • Dronkers, N. F., Wilkins, D. P., Van Valin Jr., R. D., Redfern, B. B., & Jaeger, J. J. (2004). Lesion analysis of the brain areas involved in language comprehension. Cognition, 92, 145-177. doi:10.1016/j.cognition.2003.11.002.

    Abstract

    The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2017). L2 voice recognition: The role of speaker-, listener-, and stimulus-related factors. The Journal of the Acoustical Society of America, 142(5), 3058-3068. doi:10.1121/1.5010169.

    Abstract

    Previous studies examined various factors influencing voice recognition and learning with mixed results. The present study investigates the separate and combined contribution of these various speaker-, stimulus-, and listener-related factors to voice recognition. Dutch listeners, with arguably incomplete phonological and lexical knowledge in the target language, English, learned to recognize the voice of four native English speakers, speaking in English, during four-day training. Training was successful and listeners' accuracy was shown to be influenced by the acoustic characteristics of speakers and the sound composition of the words used in the training, but not by lexical frequency of the words, nor the lexical knowledge of the listeners or their phonological aptitude. Although not conclusive, listeners with a lower working memory capacity seemed to be slower in learning voices than listeners with a higher working memory capacity. The results reveal that speaker-related, listener-related, and stimulus-related factors accumulate in voice recognition, while lexical information turns out not to play a role in successful voice learning and recognition. This implies that voice recognition operates at the prelexical processing level.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2016). Lexically-guided perceptual learning in non-native listening. Bilingualism: Language and Cognition, 19(5), 914-920. doi:10.1017/S136672891600002X.

    Abstract

    There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.
  • Dunn, M. (2003). Pioneers of Island Melanesia project. Oceania Newsletter, 30/31, 1-3.
  • Duprez, J., Stokkermans, M., Drijvers, L., & Cohen, M. X. (2021). Synchronization between keyboard typing and neural oscillations. Journal of Cognitive Neuroscience, 33(5), 887-901. doi:10.1162/jocn_a_01692.

    Abstract

    Rhythmic neural activity synchronizes with certain rhythmic behaviors, such as breathing, sniffing, saccades, and speech. The extent to which neural oscillations synchronize with higher-level and more complex behaviors is largely unknown. Here we investigated electrophysiological synchronization with keyboard typing, which is an omnipresent behavior daily engaged by an uncountably large number of people. Keyboard typing is rhythmic with frequency characteristics roughly the same as neural oscillatory dynamics associated with cognitive control, notably through midfrontal theta (4 -7 Hz) oscillations. We tested the hypothesis that synchronization occurs between typing and midfrontal theta, and breaks down when errors are committed. Thirty healthy participants typed words and sentences on a keyboard without visual feedback, while EEG was recorded. Typing rhythmicity was investigated by inter-keystroke interval analyses and by a kernel density estimation method. We used a multivariate spatial filtering technique to investigate frequency-specific synchronization between typing and neuronal oscillations. Our results demonstrate theta rhythmicity in typing (around 6.5 Hz) through the two different behavioral analyses. Synchronization between typing and neuronal oscillations occurred at frequencies ranging from 4 to 15 Hz, but to a larger extent for lower frequencies. However, peak synchronization frequency was idiosyncratic across subjects, therefore not specific to theta nor to midfrontal regions, and correlated somewhat with peak typing frequency. Errors and trials associated with stronger cognitive control were not associated with changes in synchronization at any frequency. As a whole, this study shows that brain-behavior synchronization does occur during keyboard typing but is not specific to midfrontal theta.
  • Durrant, S., Jessop, A., Chang, F., Bidgood, A., Peter, M. S., Pine, J. M., & Rowland, C. F. (2021). Does the understanding of complex dynamic events at 10 months predict vocabulary development? Language and Cognition, 13(1), 66-98. doi:10.1017/langcog.2020.26.

    Abstract

    By the end of their first year, infants can interpret many different types of complex dynamic visual events, such as caused-motion, chasing, and goal-directed action. Infants of this age are also in the early stages of vocabulary development, producing their first words at around 12 months. The present work examined whether there are meaningful individual differences in infants’ ability to represent dynamic causal events in visual scenes, and whether these differences influence vocabulary development. As part of the longitudinal Language 0–5 Project, 78 10-month-old infants were tested on their ability to interpret three dynamic motion events, involving (a) caused-motion, (b) chasing behaviour, and (c) goal-directed movement. Planned analyses found that infants showed evidence of understanding the first two event types, but not the third. Looking behaviour in each task was not meaningfully related to vocabulary development, nor were there any correlations between the tasks. The results of additional exploratory analyses and simulations suggested that the infants’ understanding of each event may not be predictive of their vocabulary development, and that looking times in these tasks may not be reliably capturing any meaningful individual differences in their knowledge. This raises questions about how to convert experimental group designs to individual differences measures, and how to interpret infant looking time behaviour.
  • Edmunds, R., L'Hours, H., Rickards, L., Trilsbeek, P., Vardigan, M., & Mokrane, M. (2016). Core trustworthy data repositories requirements. Zenodo, 168411. doi:10.5281/zenodo.168411.

    Abstract

    The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.
  • Eekhof, L. S., Kuijpers, M. M., Faber, M., Gao, X., Mak, M., Van den Hoven, E., & Willems, R. M. (2021). Lost in a story, detached from the words. Discourse Processes, 58(7), 595-616. doi:10.1080/0163853X.2020.1857619.

    Abstract

    This article explores the relationship between low- and high-level aspects of reading by studying the interplay between word processing, as measured with eye tracking, and narrative absorption and liking, as measured with questionnaires. Specifically, we focused on how individual differences in sensitivity to lexical word characteristics—measured as the effect of these characteristics on gaze duration—were related to narrative absorption and liking. By reanalyzing a large data set consisting of three previous eye-tracking experiments in which subjects (N = 171) read literary short stories, we replicated the well-established finding that word length, lemma frequency, position in sentence, age of acquisition, and orthographic neighborhood size of words influenced gaze duration. More importantly, we found that individual differences in the degree of sensitivity to three of these word characteristics, i.e., word length, lemma frequency, and age of acquisition, were negatively related to print exposure and to a lesser degree to narrative absorption and liking. Even though the underlying mechanisms of this relationship are still unclear, we believe the current findings underline the need to map out the interplay between, on the one hand, the technical and, on the other hand, the subjective processes of reading by studying reading behavior in more natural settings.

    Additional information

    Analysis scripts and data
  • Eekhof, L. S., Van Krieken, K., Sanders, J., & Willems, R. M. (2021). Reading minds, reading stories: Social-cognitive abilities affect the linguistic processing of narrative viewpoint. Frontiers in Psychology, 12: 698986. doi:10.3389/fpsyg.2021.698986.

    Abstract

    Although various studies have shown that narrative reading draws on social-cognitive abilities, not much is known about the precise aspects of narrative processing that engage these abilities. We hypothesized that the linguistic processing of narrative viewpoint—expressed by elements that provide access to the inner world of characters—might play an important role in engaging social-cognitive abilities. Using eye tracking, we studied the effect of lexical markers of perceptual, cognitive, and emotional viewpoint on eye movements during reading of a 5,000-word narrative. Next, we investigated how this relationship was modulated by individual differences in social-cognitive abilities. Our results show diverging patterns of eye movements for perceptual viewpoint markers on the one hand, and cognitive and emotional viewpoint markers on the other. Whereas the former are processed relatively fast compared to non-viewpoint markers, the latter are processed relatively slow. Moreover, we found that social-cognitive abilities impacted the processing of words in general, and of perceptual and cognitive viewpoint markers in particular, such that both perspective-taking abilities and self-reported perspective-taking traits facilitated the processing of these markers. All in all, our study extends earlier findings that social cognition is of importance for story reading, showing that individual differences in social-cognitive abilities are related to the linguistic processing of narrative viewpoint.

    Additional information

    supplementary material
  • Eisenbeiß, S., Bartke, S., Weyerts, H., & Clahsen, H. (1994). Elizitationsverfahren in der Spracherwerbsforschung: Nominalphrasen, Kasus, Plural, Partizipien. Theorie des Lexikons, 57.
  • Eising, E., Shyti, R., 'T hoen, P. A. C., Vijfhuizen, L. S., Huisman, S. M. H., Broos, L. A. M., Mahfourz, A., Reinders, M. J. T., Ferrrari, M. D., Tolner, E. A., De Vries, B., & Van den Maagdenberg, A. M. J. M. (2017). Cortical spreading depression causes unique dysregulation of inflammatory pathways in a transgenic mouse model of migraine. Molecular Biology, 54(4), 2986-2996. doi:10.1007/s12035-015-9681-5.

    Abstract

    Familial hemiplegic migraine type 1 (FHM1) is a
    rare monogenic subtype of migraine with aura caused by mutations
    in CACNA1A that encodes the α1A subunit of voltagegated
    CaV2.1 calcium channels. Transgenic knock-in mice
    that carry the human FHM1 R192Q missense mutation
    (‘FHM1 R192Q mice’) exhibit an increased susceptibility to
    cortical spreading depression (CSD), the mechanism underlying
    migraine aura. Here, we analysed gene expression profiles
    from isolated cortical tissue of FHM1 R192Q mice 24 h after
    experimentally induced CSD in order to identify molecular
    pathways affected by CSD. Gene expression profiles were
    generated using deep serial analysis of gene expression sequencing.
    Our data reveal a signature of inflammatory signalling
    upon CSD in the cortex of both mutant and wild-type
    mice. However, only in the brains of FHM1 R192Q mice
    specific genes are up-regulated in response to CSD that are
    implicated in interferon-related inflammatory signalling. Our
    findings show that CSD modulates inflammatory processes in
    both wild-type and mutant brains, but that an additional
    unique inflammatory signature becomes expressed after
    CSD in a relevant mouse model of migraine.
  • Eising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K. and 9 moreEising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K., Palotie, A., Chasman, D. I., Ferrari, M. D., Terwindt, G. M., de Vries, B., Nyholt, D. R., Lelieveldt, B. P., van den Maagdenberg, A. M., & Reinders, M. J. (2016). Gene co‑expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS‑based study using the Allen Human Brain Atlas. Human Genetics, 135(4), 425-439. doi:10.1007/s00439-016-1638-x.

    Abstract

    Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.
  • Eising, E., Pelzer, N., Vijfhuizen, L. S., De Vries, B., Ferrari, M. D., 'T Hoen, P. A. C., Terwindt, G. M., & Van den Maagdenberg, A. M. J. M. (2017). Identifying a gene expression signature of cluster headache in blood. Scientific Reports, 7: 40218. doi:10.1038/srep40218.

    Abstract

    Cluster headache is a relatively rare headache disorder, typically characterized by multiple daily, short-lasting attacks of excruciating, unilateral (peri-)orbital or temporal pain associated with autonomic symptoms and restlessness. To better understand the pathophysiology of cluster headache, we used RNA sequencing to identify differentially expressed genes and pathways in whole blood of patients with episodic (n = 19) or chronic (n = 20) cluster headache in comparison with headache-free controls (n = 20). Gene expression data were analysed by gene and by module of co-expressed genes with particular attention to previously implicated disease pathways including hypocretin dysregulation. Only moderate gene expression differences were identified and no associations were found with previously reported pathogenic mechanisms. At the level of functional gene sets, associations were observed for genes involved in several brain-related mechanisms such as GABA receptor function and voltage-gated channels. In addition, genes and modules of co-expressed genes showed a role for intracellular signalling cascades, mitochondria and inflammation. Although larger study samples may be required to identify the full range of involved pathways, these results indicate a role for mitochondria, intracellular signalling and inflammation in cluster headache

    Additional information

    Eising_etal_2017sup.pdf
  • Eising, E., De Leeuw, C., Min, J. L., Anttila, V., Verheijen, M. H. G., Terwindt, G. M., Dichgans, M., Freilinger, T., Kubisch, C., Ferrari, M. D., Smit, A. B., De Vries, B., Palotie, A., Van Den Maagdenberg, A. M. J. M., & Posthuma, D. (2016). Involvement of astrocyte and oligodendrocyte gene sets in migraine. Cephalalgia, 36(7), 640-647. doi:10.1177/0333102415618614.

    Abstract

    Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.
  • Eisner, F., McGettigan, C., Faulkner, A., Rosen, S., & Scott, S. K. (2010). Inferior frontal gyrus activation predicts individual differences in perceptual learning of cochlear-implant simulations. Journal of Neuroscience, 30(21), 7179-7186. doi:10.1523/JNEUROSCI.4040-09.2010.
  • Enfield, N. J. (2003). Producing and editing diagrams using co-speech gesture: Spatializing non-spatial relations in explanations of kinship in Laos. Journal of Linguistic Anthropology, 13(1), 7-50. doi:10.1525/jlin.2003.13.1.7.

    Abstract

    This article presents a description of two sequences of talk by urban speakers of Lao (a southwestern Tai language spoken in Laos) in which co-speech gesture plays a central role in explanations of kinship relations and terminology. The speakers spontaneously use hand gestures and gaze to spatially diagram relationships that have no inherent spatial structure. The descriptive sections of the article are prefaced by a discussion of the semiotic complexity of illustrative gestures and gesture diagrams. Gestured signals feature iconic, indexical, and symbolic components, usually in combination, as well as using motion and three-dimensional space to convey meaning. Such diagrams show temporal persistence and structural integrity despite having been projected in midair by evanescent signals (i.e., handmovements anddirected gaze). Speakers sometimes need or want to revise these spatial representations without destroying their structural integrity. The need to "edit" gesture diagrams involves such techniques as hold-and-drag, hold-and-work-with-free-hand, reassignment-of-old-chunk-tonew-chunk, and move-body-into-new-space.
  • Enfield, N. J. (2004). On linear segmentation and combinatorics in co-speech gesture: A symmetry-dominance construction in Lao fish trap descriptions. Semiotica, 149(1/4), 57-123. doi:10.1515/semi.2004.038.
  • Enfield, N. J. (2003). The definition of WHAT-d'you-call-it: Semantics and pragmatics of 'recognitional deixis'. Journal of Pragmatics, 35(1), 101-117. doi:10.1016/S0378-2166(02)00066-8.

    Abstract

    Words such as what -d'you-call-it raise issues at the heart of the semantics/pragmatics interface. Expressions of this kind are conventionalised and have meanings which, while very general, are explicitly oriented to the interactional nature of the speech context, drawing attention to a speaker's assumption that the listener can figure out what the speaker is referring to. The details of such meanings can account for functional contrast among similar expressions, in a single language as well as cross-linguistically. The English expressions what -d'you-call-it and you-know-what are compared, along with a comparable Lao expression meaning, roughly, ‘that thing’. Proposed definitions of the meanings of these expressions account for their different patterns of use. These definitions include reference to the speech act participants, a point which supports the view that what -d'you-call-it words can be considered deictic. Issues arising from the descriptive section of this paper include the question of how such terms are derived, as well as their degree of conventionality.
  • Enfield, N. J. (2010). Burnt banknotes [Review of the books Making the social world by John R. Searle and The theory of social and cultural selection by W.G. Runciman]. The Times Literary Supplement, September 3, 2010, 3-4.
  • Enfield, N. J. (2010). [Review of the book Gesturecraft: The manu-facture of meaning by Jürgen Streeck]. Pragmatics & Cognition, 18(2), 465-467. doi:10.1075/pc.18.2.11enf.

    Abstract

    Reviews the book, Gesturecraft: The Manu-Facture of Meaning by Jurgen Streeck (see record 2009-03892-000). This book on gesture goes back to well before the recent emergence of a mainstream of interest in the topic. The author of this book presents his vision of the hands' involvement in the making of meaning. The author's stance falls within a second broad category of work, a much more interdisciplinary approach, which focuses on context more richly construed. The approach not only addresses socially and otherwise distributed cognition, but also tackles the less psychologically framed concerns of meaning as a collaborative achievement and its role in the practicalities of human social life. The author's insistence that the right point of departure for gesture work is "human beings in their daily activities" leads to a view of gesture that begins not with language, and not with mind, but with types of social and contextual settings that constitute ecologies for the deployment of the hands in making meaning. The author's categories go beyond a reliance on semiotic properties of hand movements or their relation to accompanying speech, being grounded also in contextual aspects of the local setting, social activity type and communicative goals. Thus, this book is a unique contribution to gesture research.
  • Enfield, N. J. (2003). Demonstratives in space and interaction: Data from Lao speakers and implications for semantic analysis. Language, 79(1), 82-117.

    Abstract

    The semantics of simple (i.e. two-term) systems of demonstratives have in general hitherto been treated as inherently spatial and as marking a symmetrical opposition of distance (‘proximal’ versus ‘distal’), assuming the speaker as a point of origin. More complex systems are known to add further distinctions, such as visibility or elevation, but are assumed to build on basic distinctions of distance. Despite their inherently context-dependent nature, little previous work has based the analysis of demonstratives on evidence of their use in real interactional situations. In this article, video recordings of spontaneous interaction among speakers of Lao (Southwestern Tai, Laos) are examined in an analysis of the two Lao demonstrative determiners nii4 and nan4. A hypothesis of minimal encoded semantics is tested against rich contextual information, and the hypothesis is shown to be consistent with the data. Encoded conventional meanings must be kept distinct from contingent contextual information and context-dependent pragmatic implicatures. Based on examples of the two Lao demonstrative determiners in exophoric uses, the following claims are made. The term nii4 is a semantically general demonstrative, lacking specification of ANY spatial property (such as location or distance). The term nan4 specifies that the referent is ‘not here’ (encoding ‘location’ but NOT ‘distance’). Anchoring the semantic specification in a deictic primitive ‘here’ allows a strictly discrete intensional distinction to be mapped onto an extensional range of endless elasticity. A common ‘proximal’ spatial interpretation for the semantically more general term nii4 arises from the paradigmatic opposition of the two demonstrative determiners. This kind of analysis suggests a reappraisal of our general understanding of the semantics of demonstrative systems universally. To investigate the question in sufficient detail, however, rich contextual data (preferably collected on video) is necessary
  • Enfield, N. J. (2004). Nominal classification in Lao: A sketch. Sprachtypologie und Universalienforschung, 57(2/3), 117-143.
  • Enfield, N. J. (2010). Language and culture in Laos: An agenda for research. Journal of Lao Studies, 1(1), 48-54.
  • Enfield, N. J. (2010). Lost in translation [Letter to the editor]. New Scientist, 207 (2773), 31. doi:10.1016/S0262-4079(10)61971-9.

    Abstract

    no abstract available
  • Enfield, N. J. (2010). Questions and responses in Lao. Journal of Pragmatics, 42, 2649-2665. doi:10.1016/j.pragma.2010.04.004.

    Abstract

    This paper surveys the structure of questions and their responses in Lao, a Southwestern Tai language spoken in Laos, Thailand, and Cambodia. Data are from video-recordings of naturally occurring conversation in Vientiane, Laos. An outline of the lexico-grammatical options for formulating questions describes content (‘WH’) questions and polar (‘yes/no’) questions. The content question forms are from a set of indefinite pronouns. The WHAT, WHERE, and WHO categories have higher token frequency than the other categories. Polar questions are mostly formed by the addition of different turn-final markers, with different meanings. ‘Declarative questions’ (i.e., polar questions which are formally identical to statements) are common. An examination of the interactional functions of questions in the data show asymmetries between polar and content questions, with content questions used mostly for requesting information, while polar questions are also widely used for requesting confirmation, among other things. There is discussion of the kinds of responses that are appropriate or preferred given certain types of question. Alongside discussion of numerous examples, the paper provides quantitative data on the frequencies of various patterns in questions and responses. These data form part of a large-scale, ten-language coding study.
  • Enfield, N. J. (2010). Without social context? [Book review of Fitch 2010 and Larson et al. 2010]. Science, 329(5999), 1600-1601. doi:10.1126/science.1194229.

    Abstract

    Both of these considerations of the evolution of language draw on research from a wide range of fields, although Enfield believes they do not pay sufficient attention to the dynamic context of human social behavior.
  • Englert, C. (2010). Questions and responses in Dutch conversations. Journal of Pragmatics, 42, 2666-2684. doi:10.1016/j.pragma.2010.04.005.

    Abstract

    Based on an analysis of 350 questions and their responses in a corpus of ordinary interactions, this paper gives a descriptive overview of the ways Dutch interactants formulate their utterances to make them recognizable as doing questioning and the options they rely on to respond to these questions. I describe the formal options for formulating questions and responses in Dutch and the range of social actions (e.g. requests for information, requests for confirmation) that are implemented through questions in the corpus. Finally, I focus on answer design and discuss some of the coherence relations between questions, answers, and social actions. Questions that are asked to elicit information are associated with the more prototypical, lexico-morpho-syntactically defined question type such as polar interrogatives and, mainly, content questions. Most polar questions with declarative syntax are not primarily concerned with obtaining information but with doing other kinds of social actions
  • Erard, M. (2016). Solving Australia's language puzzle. Science, 353(6306), 1357-1359. doi:10.1126/science.353.6306.1357.
  • Erard, M. (2017). Write yourself invisible. New Scientist, 236(3153), 36-39.
  • Ernestus, M., & Baayen, R. H. (2003). Predicting the unpredictable: The phonological interpretation of neutralized segments in Dutch. Language, 79(1), 5-38.

    Abstract

    Among the most fascinating data for phonology are those showing how speakers incorporate new words and foreign words into their language system, since these data provide cues to the actual principles underlying language. In this article, we address how speakers deal with neutralized obstruents in new words. We formulate four hypotheses and test them on the basis of Dutch word-final obstruents, which are neutral for [voice]. Our experiments show that speakers predict the characteristics ofneutralized segments on the basis ofphonologically similar morphemes stored in the mental lexicon. This effect of the similar morphemes can be modeled in several ways. We compare five models, among them STOCHASTIC OPTIMALITY THEORY and ANALOGICAL MODELING OF LANGUAGE; all perform approximately equally well, but they differ in their complexity, with analogical modeling oflanguage providing the most economical explanation.
  • Ernestus, M., Dikmans, M., & Giezenaar, G. (2017). Advanced second language learners experience difficulties processing reduced word pronunciation variants. Dutch Journal of Applied Linguistics, 6(1), 1-20. doi:10.1075/dujal.6.1.01ern.

    Abstract

    Words are often pronounced with fewer segments in casual conversations than in formal speech. Previous research has shown that foreign language learners and beginning second language learners experience problems processing reduced speech. We examined whether this also holds for advanced second language learners. We designed a dictation task in Dutch consisting of sentences spliced from casual conversations and an unreduced counterpart of this task, with the same sentences carefully articulated by the same speaker. Advanced second language learners of Dutch produced substantially more transcription errors for the reduced than for the unreduced sentences. These errors made the sentences incomprehensible or led to non-intended meanings. The learners often did not rely on the semantic and syntactic information in the sentence or on the subsegmental cues to overcome the reductions. Hence, advanced second language learners also appear to suffer from the reduced pronunciation variants of words that are abundant in everyday conversations
  • Ernestus, M., & Mak, W. M. (2004). Distinctive phonological features differ in relevance for both spoken and written word recognition. Brain and Language, 90(1-3), 378-392. doi:10.1016/S0093-934X(03)00449-8.

    Abstract

    This paper discusses four experiments on Dutch which show that distinctive phonological features differ in their relevance for word recognition. The relevance of a feature for word recognition depends on its phonological stability, that is, the extent to which that feature is generally realized in accordance with its lexical specification in the relevant word position. If one feature value is uninformative, all values of that feature are less relevant for word recognition, with the least informative feature being the least relevant. Features differ in their relevance both in spoken and written word recognition, though the differences are more pronounced in auditory lexical decision than in self-paced reading.
  • Ernestus, M., & Baayen, R. H. (2004). Analogical effects in regular past tense production in Dutch. Linguistics, 42(5), 873-903. doi:10.1515/ling.2004.031.

    Abstract

    This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.
  • Ernestus, M., & Baayen, R. H. (2004). Kuchde, tobte, en turfte: Lekkage in 't kofschip. Onze Taal, 73(12), 360-361.
  • Ernestus, M., Giezenaar, G., & Dikmans, M. (2016). Ikfstajezotuuknie: Half uitgesproken woorden in alledaagse gesprekken. Les, 199, 7-9.

    Abstract

    Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.
  • Ernestus, M., Kouwenhoven, H., & Van Mulken, M. (2017). The direct and indirect effects of the phonotactic constraints in the listener's native language on the comprehension of reduced and unreduced word pronunciation variants in a foreign language. Journal of Phonetics, 62, 50-64. doi:10.1016/j.wocn.2017.02.003.

    Abstract

    This study investigates how the comprehension of casual speech in foreign languages is affected by the phonotactic constraints in the listener’s native language. Non-native listeners of English with different native languages heard short English phrases produced by native speakers of English or Spanish and they indicated whether these phrases included can or can’t. Native Mandarin listeners especially tended to interpret can’t as can. We interpret this result as a direct effect of the ban on word-final /nt/ in Mandarin. Both the native Mandarin and the native Spanish listeners did not take full advantage of the subsegmental information in the speech signal cueing reduced can’t. This finding is probably an indirect effect of the phonotactic constraints in their native languages: these listeners have difficulties interpreting the subsegmental cues because these cues do not occur or have different functions in their native languages. Dutch resembles English in the phonotactic constraints relevant to the comprehension of can’t, and native Dutch listeners showed similar patterns in their comprehension of native and non-native English to native English listeners. This result supports our conclusion that the major patterns in the comprehension results are driven by the phonotactic constraints in the listeners’ native languages.
  • Eryilmaz, K., & Little, H. (2017). Using Leap Motion to investigate the emergence of structure in speech and language. Behavior Research Methods, 49(5), 1748-1768. doi:10.3758/s13428-016-0818-x.

    Abstract

    In evolutionary linguistics, experiments using artificial signal spaces are being used to investigate the emergence of speech structure. These signal spaces need to be continuous, non-discretised spaces from which discrete units and patterns can emerge. They need to be dissimilar from - but comparable with - the vocal-tract, in order to minimise interference from pre-existing linguistic knowledge, while informing us about language. This is a hard balance to strike. This article outlines a new approach which uses the Leap Motion, an infra-red controller which can convert manual movement in 3d space into sound. The signal space using this approach is more flexible than signal spaces in previous attempts. Further, output data using this approach is simpler to arrange and analyse. The experimental interface was built using free, and mostly open source libraries in Python. We provide our source code for other researchers as open source.
  • Eschenko, O., Canals, S., Simanova, I., & Logothetis, N. K. (2010). Behavioral, electrophysiological and histopathological consequences of systemic manganese administration in MEMRI. Magnetic Resonance Imaging, 28, 1165-1174. doi:10.1016/j.mri.2009.12.022.

    Abstract

    Manganese (Mn2+)-enhanced magnetic resonance imaging (MEMRI) offers the possibility to generate longitudinal maps of brain activity in unrestrained and behaving animals. However, Mn2+ is a metabolic toxin and a competitive inhibitor for Ca2+, and therefore, a yet unsolved question in MEMRI studies is whether the concentrations of metal ion used may alter brain physiology. In the present work we have investigated the behavioral, electrophysiological and histopathological consequences of MnCl2 administration at concentrations and dosage protocols regularly used in MEMRI. Three groups of animals were sc injected with saline, 0.1 and 0.5 mmol/kg MnCl2, respectively. In vivo electrophysiological recordings in the hippocampal formation revealed a mild but detectable decrease in both excitatory postsynaptic potentials (EPSP) and population spike (PS) amplitude under the highest MnCl2 dose. The EPSP to PS ratio was preserved at control levels, indicating that neuronal excitability was not affected. Experiments of pair pulse facilitation demonstrated a dose dependent increase in the potentiation of the second pulse, suggesting presynaptic Ca2+ competition as the mechanism for the decreased neuronal response. Tetanization of the perforant path induced a long-term potentiation of synaptic transmission that was comparable in all groups, regardless of treatment. Accordingly, the choice accuracy tested on a hippocampal-dependent learning task was not affected. However, the response latency in the same task was largely increased in the group receiving 0.5 mmol/kg of MnCl2. Immunohistological examination of the hippocampus at the end of the experiments revealed no sign of neuronal toxicity or glial reaction. Although we show that MEMRI at 0.1 mmol/Kg MnCl2 may be safely applied to the study of cognitive networks, a detailed assessment of toxicity is strongly recommended for each particular study and Mn2+ administration protocol.
  • Eschenko, O., Canals, S., Simanova, I., Beyerlein, M., Murayama, Y., & Logothetis, N. K. (2010). Mapping of functional brain activity in freely behaving rats during voluntary running using manganese-enhanced MRI: Implication for longitudinal studies. Neuroimage, 49, 2544-2555. doi:10.1016/j.neuroimage.2009.10.079.

    Abstract

    Magnetic resonance imaging (MRI) is widely used in basic and clinical research to map the structural and functional organization of the brain. An important need of MR research is for contrast agents that improve soft-tissue contrast, enable visualization of neuronal tracks, and enhance the capacity of MRI to provide functional information at different temporal scales. Unchelated manganese can be such an agent, and manganese-enhanced MRI (MEMRI) can potentially be an excellent technique for localization of brain activity (for review see Silva et al., 2004). Yet, the toxicity of manganese presents a major limitation for employing MEMRI in behavioral paradigms. We have tested systematically the voluntary wheel running behavior of rats after systemic application of MnCl2 in a dose range of 16–80 mg/kg, which is commonly used in MEMRI studies. The results show a robust dose-dependent decrease in motor performance, which was accompanied by weight loss and decrease in food intake. The adverse effects lasted for up to 7 post-injection days. The lowest dose of MnCl2 (16 mg/kg) produced minimal adverse effects, but was not sufficient for functional mapping. We have therefore evaluated an alternative method of manganese delivery via osmotic pumps, which provide a continuous and slow release of manganese. In contrast to a single systemic injection, the pump method did not produce any adverse locomotor effects, while achieving a cumulative concentration of manganese (80 mg/kg) sufficient for functional mapping. Thus, MEMRI with such an optimized manganese delivery that avoids toxic effects can be safely applied for longitudinal studies in behaving animals.
  • Esteve-Gibert, N., Prieto, P., & Liszkowski, U. (2017). Twelve-month-olds understand social intentions based on prosody and gesture shape. Infancy, 22, 108-129. doi:10.1111/infa.12146.

    Abstract

    Infants infer social and pragmatic intentions underlying attention-directing gestures, but the basis on which infants make these inferences is not well understood. Previous studies suggest that infants rely on information from preceding shared action contexts and joint perceptual scenes. Here, we tested whether 12-month-olds use information from act-accompanying cues, in particular prosody and hand shape, to guide their pragmatic understanding. In Experiment 1, caregivers directed infants’ attention to an object to request it, share interest in it, or inform them about a hidden aspect. Caregivers used distinct prosodic and gestural patterns to express each pragmatic intention. Experiment 2 was identical except that experimenters provided identical lexical information across conditions and used three sets of trained prosodic and gestural patterns. In all conditions, the joint perceptual scenes and preceding shared action contexts were identical. In both experiments, infants reacted appropriately to the adults’ intentions by attending to the object mostly in the sharing interest condition, offering the object mostly in the imperative condition, and searching for the referent mostly in the informing condition. Infants’ ability to comprehend pragmatic intentions based on prosody and gesture shape expands infants’ communicative understanding from common activities to novel situations for which shared background knowledge is missing.
  • Estruch, S. B., Graham, S. A., Chinnappa, S. M., Deriziotis, P., & Fisher, S. E. (2016). Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. Journal of Neurodevelopmental Disorders, 8: 44. doi:10.1186/s11689-016-9177-2.
  • Estruch, S. B., Graham, S. A., Deriziotis, P., & Fisher, S. E. (2016). The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers. Scientific Reports, 6: 20911. doi:10.1038/srep20911.

    Abstract

    Mutations affecting the transcription factor FOXP2 cause a rare form of severe speech and language disorder. Although it is clear that sufficient FOXP2 expression is crucial for normal brain development, little is known about how this transcription factor is regulated. To investigate post-translational mechanisms for FOXP2 regulation, we searched for protein interaction partners of FOXP2, and identified members of the PIAS family as novel FOXP2 interactors. PIAS proteins mediate post-translational modification of a range of target proteins with small ubiquitin-like modifiers (SUMOs). We found that FOXP2 can be modified with all three human SUMO proteins and that PIAS1 promotes this process. An aetiological FOXP2 mutation found in a family with speech and language disorder markedly reduced FOXP2 SUMOylation. We demonstrate that FOXP2 is SUMOylated at a single major site, which is conserved in all FOXP2 vertebrate orthologues and in the paralogues FOXP1 and FOXP4. Abolishing this site did not lead to detectable changes in FOXP2 subcellular localization, stability, dimerization or transcriptional repression in cellular assays, but the conservation of this site suggests a potential role for SUMOylation in regulating FOXP2 activity in vivo.

    Additional information

    srep20911-s1.pdf
  • Evans, N., Levinson, S. C., & Sterelny, K. (2021). Kinship revisited. Biological theory, 16, 123-126. doi:10.1007/s13752-021-00384-9.
  • Evans, N., Levinson, S. C., & Sterelny, K. (Eds.). (2021). Thematic issue on evolution of kinship systems [Special Issue]. Biological theory, 16.
  • Ho, Y. Y. W., Evans, D. M., Montgomery, G. W., Henders, A. K., Kemp, J. P., Timpson, N. J., St Pourcain, B., Heath, A. C., Madden, P. A. F., Loesch, D. Z., McNevin, D., Daniel, R., Davey-Smith, G., Martin, N. G., & Medland, S. E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136(4), 859-862. doi:10.1016/j.jid.2015.10.062.

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