Publications

Displaying 101 - 200 of 1257
  • Braun, B., Kochanski, G., Grabe, E., & Rosner, B. S. (2006). Evidence for attractors in English intonation. Journal of the Acoustical Society of America, 119(6), 4006-4015. doi:10.1121/1.2195267.

    Abstract

    Although the pitch of the human voice is continuously variable, some linguists contend that intonation in speech is restricted to a small, limited set of patterns. This claim is tested by asking subjects to mimic a block of 100 randomly generated intonation contours and then to imitate themselves in several successive sessions. The produced f0 contours gradually converge towards a limited set of distinct, previously recognized basic English intonation patterns. These patterns are "attractors" in the space of possible intonation English contours. The convergence does not occur immediately. Seven of the ten participants show continued convergence toward their attractors after the first iteration. Subjects retain and use information beyond phonological contrasts, suggesting that intonational phonology is not a complete description of their mental representation of intonation.
  • Brehm, L., & Meyer, A. S. (2021). Planning when to say: Dissociating cue use in utterance initiation using cross-validation. Journal of Experimental Psychology: General, 150(9), 1772-1799. doi:10.1037/xge0001012.

    Abstract

    In conversation, turns follow each other with minimal gaps. To achieve this, speakers must launch their utterances shortly before the predicted end of the partner’s turn. We examined the relative importance of cues to partner utterance content and partner utterance length for launching coordinated speech. In three experiments, Dutch adult participants had to produce prepared utterances (e.g., vier, “four”) immediately after a recording of a confederate’s utterance (zeven, “seven”). To assess the role of corepresenting content versus attending to speech cues in launching coordinated utterances, we varied whether the participant could see the stimulus being named by the confederate, the confederate prompt’s length, and whether within a block of trials, the confederate prompt’s length was predictable. We measured how these factors affected the gap between turns and the participants’ allocation of visual attention while preparing to speak. Using a machine-learning technique, model selection by k-fold cross-validation, we found that gaps were most strongly predicted by cues from the confederate speech signal, though some benefit was also conferred by seeing the confederate’s stimulus. This shows that, at least in a simple laboratory task, speakers rely more on cues in the partner’s speech than corepresentation of their utterance content.
  • Brehm, L., Jackson, C. N., & Miller, K. L. (2021). Probabilistic online processing of sentence anomalies. Language, Cognition and Neuroscience, 36(8), 959-983. doi:10.1080/23273798.2021.1900579.

    Abstract

    Listeners can successfully interpret the intended meaning of an utterance even when it contains errors or other unexpected anomalies. The present work combines an online measure of attention to sentence referents (visual world eye-tracking) with offline judgments of sentence meaning to disclose how the interpretation of anomalous sentences unfolds over time in order to explore mechanisms of non-literal processing. We use a metalinguistic judgment in Experiment 1 and an elicited imitation task in Experiment 2. In both experiments, we focus on one morphosyntactic anomaly (Subject-verb agreement; The key to the cabinets literally *were … ) and one semantic anomaly (Without; Lulu went to the gym without her hat ?off) and show that non-literal referents to each are considered upon hearing the anomalous region of the sentence. This shows that listeners understand anomalies by overwriting or adding to an initial interpretation and that this occurs incrementally and adaptively as the sentence unfolds.
  • Brehm, L., & Goldrick, M. (2016). Empirical and conceptual challenges for neurocognitive theories of language production. Language, Cognition and Neuroscience, 31(4), 504-507. doi:10.1080/23273798.2015.1110604.
  • Broeder, D., & Wittenburg, P. (2006). The IMDI metadata framework, its current application and future direction. International Journal of Metadata, Semantics and Ontologies, 1(2), 119-132. doi:10.1504/IJMSO.2006.011008.

    Abstract

    The IMDI Framework offers next to a suitable set of metadata descriptors for language resources, a set of tools and an infrastructure to use these. This paper gives an overview of all these aspects and at the end describes the intentions and hopes for ensuring the interoperability of the IMDI framework within more general ones in development. An evaluation of the current state of the IMDI Framework is presented with an analysis of the benefits and more problematic issues. Finally we describe work on issues of long-term stability for IMDI by linking up to the work done within the ISO TC37/SC4 subcommittee (TC37/SC4).
  • Broeder, D., Auer, E., & Wittenburg, P. (2006). Unique resource identifiers. Language Archive Newsletter, no. 8, 8-9.
  • Broeder, D. (2004). 40,000 IMDI sessions. Language Archive Newsletter, 1(4), 12-12.
  • Broeder, D., & Offenga, F. (2004). IMDI Metadata Set 3.0. Language Archive Newsletter, 1(2), 3-3.
  • Broersma, M., & De Bot, K. (2006). Triggered codeswitching: A corpus-based evaluation of the original triggering hypothesis and a new alternative. Bilingualism: Language and Cognition, 9(1), 1-13. doi:10.1017/S1366728905002348.

    Abstract

    In this article the triggering hypothesis for codeswitching proposed by Michael Clyne is discussed and tested. According to this hypothesis, cognates can facilitate codeswitching of directly preceding or following words. It is argued that the triggering hypothesis in its original form is incompatible with language production models, as it assumes that language choice takes place at the surface structure of utterances, while in bilingual production models language choice takes place along with lemma selection. An adjusted version of the triggering hypothesis is proposed in which triggering takes place during lemma selection and the scope of triggering is extended to basic units in language production. Data from a Dutch–Moroccan Arabic corpus are used for a statistical test of the original and the adjusted triggering theory. The codeswitching patterns found in the data support part of the original triggering hypothesis, but they are best explained by the adjusted triggering theory.
  • Broersma, M., Carter, D., & Acheson, D. J. (2016). Cognate costs in bilingual speech production: Evidence from language switching. Frontiers in Psychology, 7: 1461. doi:10.3389/fpsyg.2016.01461.

    Abstract

    This study investigates cross-language lexical competition in the bilingual mental lexicon. It provides evidence for the occurrence of inhibition as well as the commonly reported facilitation during the production of cognates (words with similar phonological form and meaning in two languages) in a mixed picture naming task by highly proficient Welsh-English bilinguals. Previous studies have typically found cognate facilitation. It has previously been proposed (with respect to non-cognates) that cross-language inhibition is limited to low-proficient bilinguals; therefore, we tested highly proficient, early bilinguals. In a mixed naming experiment (i.e., picture naming with language switching), 48 highly proficient, early Welsh-English bilinguals named pictures in Welsh and English, including cognate and non-cognate targets. Participants were English-dominant, Welsh-dominant, or had equal language dominance. The results showed evidence for cognate inhibition in two ways. First, both facilitation and inhibition were found on the cognate trials themselves, compared to non-cognate controls, modulated by the participants' language dominance. The English-dominant group showed cognate inhibition when naming in Welsh (and no difference between cognates and controls when naming in English), and the Welsh-dominant and equal dominance groups generally showed cognate facilitation. Second, cognate inhibition was found as a behavioral adaptation effect, with slower naming for non-cognate filler words in trials after cognates than after non-cognate controls. This effect was consistent across all language dominance groups and both target languages, suggesting that cognate production involved cognitive control even if this was not measurable in the cognate trials themselves. Finally, the results replicated patterns of symmetrical switch costs, as commonly reported for balanced bilinguals. We propose that cognate processing might be affected by two different processes, namely competition at the lexical-semantic level and facilitation at the word form level, and that facilitation at the word form level might (sometimes) outweigh any effects of inhibition at the lemma level. In sum, this study provides evidence that cognate naming can cause costs in addition to benefits. The finding of cognate inhibition, particularly for the highly proficient bilinguals tested, provides strong evidence for the occurrence of lexical competition across languages in the bilingual mental lexicon.
  • Brouwer, S., & Bradlow, A. R. (2015). The temporal dynamics of spoken word recognition in adverse listening conditions. Journal of Psycholinguistic Research. Advanced online publication. doi:10.1007/s10936-015-9396-9.

    Abstract

    This study examined the temporal dynamics of spoken word recognition in noise and background speech. In two visual-world experiments, English participants listened to target words while looking at four pictures on the screen: a target (e.g. candle), an onset competitor (e.g. candy), a rhyme competitor (e.g. sandal), and an unrelated distractor (e.g. lemon). Target words were presented in quiet, mixed with broadband noise, or mixed with background speech. Results showed that lexical competition changes throughout the observation window as a function of what is presented in the background. These findings suggest that, rather than being strictly sequential, stream segregation and lexical competition interact during spoken word recognition
  • Brown, P., Sicoli, M. A., & Le Guen, O. (2021). Cross-speaker repetition and epistemic stance in Tzeltal, Yucatec, and Zapotec conversations. Journal of Pragmatics, 183, 256-272. doi:10.1016/j.pragma.2021.07.005.

    Abstract

    As a turn-design strategy, repeating another has been described for English as a fairly restricted way of constructing a response, which, through re-saying what another speaker just said, is exploitable for claiming epistemic primacy, and thus avoided when a second speaker has no direct experience. Conversations in Mesoamerican languages present a challenge to the generality of this claim. This paper examines the epistemics of dialogic repetition in video-recordings of conversations in three Indigenous languages of Mexico: Tzeltal and Yucatec Maya, both spoken in southeastern Mexico, and Lachixío Zapotec, spoken in Oaxaca. We develop a typology of repetition in different sequential environments. We show that while the functions of repeats in Mesoamerica overlap with the range of repeat functions described for English, there is an additional epistemic environment in the Mesoamerican routine of repeating for affirmation: a responding speaker can repeat to affirm something introduced by another speaker of which s/he has no prior knowledge. We argue that, while dialogic repetition is a universally available turn-design strategy that makes epistemics potentially relevant, cross-cultural comparison reveals that cultural preferences intervene such that, in Mesoamerican conversations, repetition co-constructs knowledge as collective process over which no individual participant has final authority or ownership.

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  • Brown, A. R., Pouw, W., Brentari, D., & Goldin-Meadow, S. (2021). People are less susceptible to illusion when they use their hands to communicate rather than estimate. Psychological Science, 32, 1227-1237. doi:10.1177/0956797621991552.

    Abstract

    When we use our hands to estimate the length of a stick in the Müller-Lyer illusion, we are highly susceptible to the illusion. But when we prepare to act on sticks under the same conditions, we are significantly less susceptible. Here, we asked whether people are susceptible to illusion when they use their hands not to act on objects but to describe them in spontaneous co-speech gestures or conventional sign languages of the deaf. Thirty-two English speakers and 13 American Sign Language signers used their hands to act on, estimate the length of, and describe sticks eliciting the Müller-Lyer illusion. For both gesture and sign, the magnitude of illusion in the description task was smaller than the magnitude of illusion in the estimation task and not different from the magnitude of illusion in the action task. The mechanisms responsible for producing gesture in speech and sign thus appear to operate not on percepts involved in estimation but on percepts derived from the way we act on objects.

    Additional information

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  • Brown, P. (1998). Children's first verbs in Tzeltal: Evidence for an early verb category. Linguistics, 36(4), 713-753.

    Abstract

    A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.
  • Brown, P. (1998). Conversational structure and language acquisition: The role of repetition in Tzeltal adult and child speech. Journal of Linguistic Anthropology, 8(2), 197-221. doi:10.1525/jlin.1998.8.2.197.

    Abstract

    When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.
  • Brown, P., & Levinson, S. C. (1992). 'Left' and 'right' in Tenejapa: Investigating a linguistic and conceptual gap. Zeitschrift für Phonetik, Sprachwissenschaft und Kommunikationsforschung, 45(6), 590-611.

    Abstract

    From the perspective of a Kantian belief in the fundamental human tendency to cleave space along the three planes of the human body, Tenejapan Tzeltal exhibits a linguistic gap: there are no linguistic expressions that designate regions (as in English to my left) or describe the visual field (as in to the left of the tree) on the basis of a plane bisecting the body into a left and right side. Tenejapans have expressions for left and right hands (xin k'ab and wa'el k'ab), but these are basically body-part terms, they are not generalized to form a division of space. This paper describes the results of various elicited producton tasks in which concepts of left and right would provide a simple solution, showing that Tenejapan consultants use other notions even when the relevant linguistic distinctions could be made in Tzeltal (e.g. describing the position of one's limbs, or describing rotation of one's body). Instead of using the left-hand/right-hand distinction to construct a division of space, Tenejapans utilize a number of other systems: (i) an absolute, 'cardinal direction' system, supplemented by reference to other geographic or landmark directions, (ii) a generative segmentation of objects and places into analogic body-parts or other kinds of parts, and (iii) a rich system of positional adjectives to describe the exact disposition of things. These systems work conjointly to specify locations with precision and elegance. The overall system is not primarily egocentric, and it makes no essential reference to planes through the human body.
  • Brown, P. (1998). [Review of the book by A.J. Wootton, Interaction and the development of mind]. Journal of the Royal Anthropological Institute, 4(4), 816-817.
  • Brown, P. (2006). Language, culture and cognition: The view from space. Zeitschrift für Germanistische Linguistik, 34, 64-86.

    Abstract

    This paper addresses the vexed questions of how language relates to culture, and what kind of notion of culture is important for linguistic explanation. I first sketch five perspectives - five different construals - of culture apparent in linguistics and in cognitive science more generally. These are: (i) culture as ethno-linguistic group, (ii) culture as a mental module, (iii) culture as knowledge, (iv) culture as context, and (v) culture as a process emergent in interaction. I then present my own work on spatial language and cognition in a Mayan languge and culture, to explain why I believe a concept of culture is important for linguistics. I argue for a core role for cultural explanation in two domains: in analysing the semantics of words embedded in cultural practices which color their meanings (in this case, spatial frames of reference), and in characterizing thematic and functional links across different domains in the social and semiotic life of a particular group of people.
  • Brown, P. (1998). La identificación de las raíces verbales en Tzeltal (Maya): Cómo lo hacen los niños? Función, 17-18, 121-146.

    Abstract

    This is a Spanish translation of Brown 1997.
  • Brown-Schmidt, S., & Konopka, A. E. (2015). Processes of incremental message planning during conversation. Psychonomic Bulletin & Review, 22, 833-843. doi:10.3758/s13423-014-0714-2.

    Abstract

    Speaking begins with the formulation of an intended preverbal message and linguistic encoding of this information. The transition from thought to speech occurs incrementally, with cascading planning at subsequent levels of production. In this article, we aim to specify the mechanisms that support incremental message preparation. We contrast two hypotheses about the mechanisms responsible for incorporating message-level information into a linguistic plan. According to the Initial Preparation view, messages can be encoded as fluent utterances if all information is ready before speaking begins. By contrast, on the Continuous Incrementality view, messages can be continually prepared and updated throughout the production process, allowing for fluent production even if new information is added to the message while speaking is underway. Testing these hypotheses, eye-tracked speakers in two experiments produced unscripted, conjoined noun phrases with modifiers. Both experiments showed that new message elements can be incrementally incorporated into the utterance even after articulation begins, consistent with a Continuous Incrementality view of message planning, in which messages percolate to linguistic encoding immediately as that information becomes available in the mind of the speaker. We conclude by discussing the functional role of incremental message planning in conversational speech and the situations in which this continuous incremental planning would be most likely to be observed
  • Brucato, N., Guadalupe, T., Franke, B., Fisher, S. E., & Francks, C. (2015). A schizophrenia-associated HLA locus affects thalamus volume and asymmetry. Brain, Behavior, and Immunity, 46, 311-318. doi:10.1016/j.bbi.2015.02.021.

    Abstract

    Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analyzed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P=0.0000017, corrected P=0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia
  • Brugman, H. (2004). ELAN 2.2 now available. Language Archive Newsletter, 1(3), 13-14.
  • Brugman, H., Sloetjes, H., Russel, A., & Klassmann, A. (2004). ELAN 2.3 available. Language Archive Newsletter, 1(4), 13-13.
  • Brugman, H. (2004). ELAN Releases 2.0.2 and 2.1. Language Archive Newsletter, 1(2), 4-4.
  • Bull, L. E., Oliver, C., Callaghan, E., & Woodcock, K. A. (2015). Increased Exposure to Rigid Routines can Lead to Increased Challenging Behavior Following Changes to Those Routines. Journal of Autism and Developmental Disorders, 45(6), 1569-1578. doi:10.1007/s10803-014-2308-2.

    Abstract

    Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader–Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

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  • Burenhult, N. (2006). Body part terms in Jahai. Language Sciences, 28(2-3), 162-180. doi:10.1016/j.langsci.2005.11.002.

    Abstract

    This article explores the lexicon of body part terms in Jahai, a Mon-Khmer language spoken by a group of hunter–gatherers in the Malay Peninsula. It provides an extensive inventory of body part terms and describes their structural and semantic properties. The Jahai body part lexicon pays attention to fine anatomical detail but lacks labels for major, ‘higher-level’ categories, like ‘trunk’, ‘limb’, ‘arm’ and ‘leg’. In this lexicon it is therefore sometimes difficult to discern a clear partonomic hierarchy, a presumed universal of body part terminology.
  • Burenhult, N. (2004). Landscape terms and toponyms in Jahai: A field report. Lund Working Papers, 51, 17-29.
  • Burgers, N., Ettema, D. F., Hooimeijer, P., & Barendse, M. T. (2021). The effects of neighbours on sport club membership. European Journal for Sport and Society, 18(4), 310-325. doi:10.1080/16138171.2020.1840710.

    Abstract

    Neighbours have been found to influence each other’s behaviour (contagion effect). However, little is known about the influence on sport club membership. This while increasing interest has risen for the social role of sport clubs. Sport clubs could bring people from different backgrounds together. A mixed composition is a key element in this social role. Individual characteristics are strong predictors of sport club membership. Western high educated men are more likely to be members. In contrast to people with a non-Western migration background. The neighbourhood is a more fixed meeting place, which provides unique opportunities for people from different backgrounds to interact. This study aims to gain more insight into the influence of neighbours on sport club membership. This research looks especially at the composition of neighbour’s migration background, since they tend to be more or less likely to be members and therefore could encourage of inhibit each other. A population database including the only registry data of all Dutch inhabitants was merged with data of 11 sport unions. The results show a cross-level effect of neighbours on sport club membership. We find a contagion effect of neighbours’ migration background; having a larger proportion of neighbours with a migration background from a non-Western country reduces the odds, as expected. However, this contagion effect was not found for people with a Moroccan or Turkish background.
  • Byers-Heinlein, K., Tsui, A. S. M., Bergmann, C., Black, A. K., Brown, A., Carbajal, M. J., Durrant, S., Fennell, C. T., Fiévet, A.-C., Frank, M. C., Gampe, A., Gervain, J., Gonzalez-Gomez, N., Hamlin, J. K., Havron, N., Hernik, M., Kerr, S., Killam, H., Klassen, K., Kosie, J. and 18 moreByers-Heinlein, K., Tsui, A. S. M., Bergmann, C., Black, A. K., Brown, A., Carbajal, M. J., Durrant, S., Fennell, C. T., Fiévet, A.-C., Frank, M. C., Gampe, A., Gervain, J., Gonzalez-Gomez, N., Hamlin, J. K., Havron, N., Hernik, M., Kerr, S., Killam, H., Klassen, K., Kosie, J., Kovács, Á. M., Lew-Williams, C., Liu, L., Mani, N., Marino, C., Mastroberardino, M., Mateu, V., Noble, C., Orena, A. J., Polka, L., Potter, C. E., Schreiner, M., Singh, L., Soderstrom, M., Sundara, M., Waddell, C., Werker, J. F., & Wermelinger, S. (2021). A multilab study of bilingual infants: Exploring the preference for infant-directed speech. Advances in Methods and Practices in Psychological Science, 4(1), 1-30. doi:10.1177/2515245920974622.

    Abstract

    From the earliest months of life, infants prefer listening to and learn better from infant-directed speech (IDS) than adult-directed speech (ADS). Yet, IDS differs within communities, across languages, and across cultures, both in form and in prevalence. This large-scale, multi-site study used the diversity of bilingual infant experiences to explore the impact of different types of linguistic experience on infants’ IDS preference. As part of the multi-lab ManyBabies project, we compared lab-matched samples of 333 bilingual and 385 monolingual infants’ preference for North-American English IDS (cf. ManyBabies Consortium, in press (MB1)), tested in 17 labs in 7 countries. Those infants were tested in two age groups: 6–9 months (the younger sample) and 12–15 months (the older sample). We found that bilingual and monolingual infants both preferred IDS to ADS, and did not differ in terms of the overall magnitude of this preference. However, amongst bilingual infants who were acquiring North-American English (NAE) as a native language, greater exposure to NAE was associated with a stronger IDS preference, extending the previous finding from MB1 that monolinguals learning NAE as a native language showed a stronger preference than infants unexposed to NAE. Together, our findings indicate that IDS preference likely makes a similar contribution to monolingual and bilingual development, and that infants are exquisitely sensitive to the nature and frequency of different types of language input in their early environments.
  • Caldwell-Harris, C. L., Lancaster, A., Ladd, D. R., Dediu, D., & Christiansen, M. H. (2015). Factors influencing sensitivity to lexical tone in an artificial language: Implications for second language learning. Studies in Second Language Acquisition, 37(2), 335-357. doi:10.1017/S0272263114000849.

    Abstract

    This study examined whether musical training, ethnicity, and experience with a natural tone language influenced sensitivity to tone while listening to an artificial tone language. The language was designed with three tones, modeled after level-tone African languages. Participants listened to a 15-min random concatenation of six 3-syllable words. Sensitivity to tone was assessed using minimal pairs differing only in one syllable (nonword task: e.g., to-kà-su compared to ca-fí-to) or only in tone (tone task: e.g., to-kà-su compared to to-ká-su). Proficiency in an East Asian heritage language was the strongest predictor of success on the tone task. Asians without tone language experience were no better than other ethnic groups. We conclude by considering implications for research on second language learning, especially as approached through artificial language learning.
  • Calkoen, F., Vervat, C., van Pel, M., de Haas, V., Vijfhuizen, L., Eising, E., Kroes, W., Hoen, P., van den Heuvel-Eibrink, M., Egeler, R., Van Tol, M., & Ball, L. (2015). Despite differential gene expression profiles pediatric MDS derived mesenchymal stromal cells display functionality in vitro. Stem Cell Research, 14(2), 198-210. doi:10.1016/j.scr.2015.01.006.

    Abstract

    Pediatric myelodysplastic syndrome (MDS) is a heterogeneous disease covering a spectrum ranging from aplasia (RCC) to myeloproliferation (RAEB(t)). In adult-type MDS there is increasing evidence for abnormal function of the bone-marrow microenvironment. Here, we extensively studied the mesenchymal stromal cells (MSCs) derived from children with MDS. MSCs were expanded from the bone-marrow of 17 MDS patients (RCC: n = 10 and advanced MDS: n = 7) and pediatric controls (n = 10). No differences were observed with respect to phenotype, differentiation capacity, immunomodulatory capacity or hematopoietic support. mRNA expression analysis by Deep-SAGE revealed increased IL-6 expression in RCC- and RAEB(t)-MDS. RCC-MDS MSC expressed increased levels of DKK3, a protein associated with decreased apoptosis. RAEB(t)-MDS revealed increased CRLF1 and decreased DAPK1 expressions. This pattern has been associated with transformation in hematopoietic malignancies. Genes reported to be differentially expressed in adult MDS-MSC did not differ between MSC of pediatric MDS and controls. An altered mRNA expression profile, associated with cell survival and malignant transformation, of MSC derived from children with MDS strengthens the hypothesis that the micro-environment is of importance in this disease. Our data support the understanding that pediatric and adult MDS are two different diseases. Further evaluation of the pathways involved might reveal additional therapy targets.
  • Calkoen, F. G., Vervat, C., Eising, E., Vijfhuizen, L. S., 't Hoen, P.-B.-A., van den Heuvel-Eibrink, M. M., & Egeler, R. M. (2015). Gene-expression and in vitro function of mesenchymal stromal cells are affected in juvenile myelomonocytic leukemia. Haematologica, 100(11), 1434-1441. doi:10.3324/haematol.2015.126938.

    Abstract

    An aberrant interaction between hematopoietic stem cells and mesenchymal stromal cells has been linked to disease and shown to contribute to the pathophysiology of hematologic malignancies in murine models. Juvenile myelomonocytic leukemia is an aggressive malignant disease affecting young infants. Here we investigated the impact of juvenile myelomonocytic leukemia on mesenchymal stromal cells. Mesenchymal stromal cells were expanded from bone marrow samples of patients at diagnosis (n=9) and after hematopoietic stem cell transplantation (n=7; from 5 patients) and from healthy children (n=10). Cells were characterized by phenotyping, differentiation, gene expression analysis (of controls and samples obtained at diagnosis) and in vitro functional studies assessing immunomodulation and hematopoietic support. Mesenchymal stromal cells from patients did not differ from controls in differentiation capacity nor did they differ in their capacity to support in vitro hematopoiesis. Deep-SAGE sequencing revealed differential mRNA expression in patient-derived samples, including genes encoding proteins involved in immunomodulation and cell-cell interaction. Selected gene expression normalized during remission after successful hematopoietic stem cell transplantation. Whereas natural killer cell activation and peripheral blood mononuclear cell proliferation were not differentially affected, the suppressive effect on monocyte to dendritic cell differentiation was increased by mesenchymal stromal cells obtained at diagnosis, but not at time of remission. This study shows that active juvenile myelomonocytic leukemia affects the immune response-related gene expression and function of mesenchymal stromal cells. In contrast, the differential gene expression of hematopoiesis-related genes could not be supported by functional data. Decreased immune surveillance might contribute to the therapy resistance and progression in juvenile myelomonocytic leukemia.
  • Carlsson, K., Andersson, J., Petrovic, P., Petersson, K. M., Öhman, A., & Ingvar, M. (2006). Predictability modulates the affective and sensory-discriminative neural processing of pain. NeuroImage, 32(4), 1804-1814. doi:10.1016/j.neuroimage.2006.05.027.

    Abstract

    Knowing what is going to happen next, that is, the capacity to predict upcoming events, modulates the extent to which aversive stimuli induce stress and anxiety. We explored this issue by manipulating the temporal predictability of aversive events by means of a visual cue, which was either correlated or uncorrelated with pain stimuli (electric shocks). Subjects reported lower levels of anxiety, negative valence and pain intensity when shocks were predictable. In addition to attenuate focus on danger, predictability allows for correct temporal estimation of, and selective attention to, the sensory input. With functional magnetic resonance imaging, we found that predictability was related to enhanced activity in relevant sensory-discriminative processing areas, such as the primary and secondary sensory cortex and posterior insula. In contrast, the unpredictable more aversive context was correlated to brain activity in the anterior insula and the orbitofrontal cortex, areas associated with affective pain processing. This context also prompted increased activity in the posterior parietal cortex and lateral prefrontal cortex that we attribute to enhanced alertness and sustained attention during unpredictability.
  • Carlsson, K., Petersson, K. M., Lundqvist, D., Karlsson, A., Ingvar, M., & Öhman, A. (2004). Fear and the amygdala: manipulation of awareness generates differential cerebral responses to phobic and fear-relevant (but nonfeared) stimuli. Emotion, 4(4), 340-353. doi:10.1037/1528-3542.4.4.340.

    Abstract

    Rapid response to danger holds an evolutionary advantage. In this positron emission tomography study, phobics were exposed to masked visual stimuli with timings that either allowed awareness or not of either phobic, fear-relevant (e.g., spiders to snake phobics), or neutral images. When the timing did not permit awareness, the amygdala responded to both phobic and fear-relevant stimuli. With time for more elaborate processing, phobic stimuli resulted in an addition of an affective processing network to the amygdala activity, whereas no activity was found in response to fear-relevant stimuli. Also, right prefrontal areas appeared deactivated, comparing aware phobic and fear-relevant conditions. Thus, a shift from top-down control to an affectively driven system optimized for speed was observed in phobic relative to fear-relevant aware processing.
  • Carota, F., Bozic, M., & Marslen-Wilson, W. (2016). Decompositional Representation of Morphological Complexity: Multivariate fMRI Evidence from Italian. Journal of Cognitive Neuroscience, 28(12), 1878-1896. doi:10.1162/jocn\_a\_01009.

    Abstract

    Derivational morphology is a cross-linguistically dominant mechanism for word formation, combining existing words with derivational affixes to create new word forms. However, the neurocognitive mechanisms underlying the representation and processing of such forms remain unclear. Recent cross-linguistic neuroimaging research suggests that derived words are stored and accessed as whole forms, without engaging the left-hemisphere perisylvian network associated with combinatorial processing of syntactically and inflectionally complex forms. Using fMRI with a “simple listening” no-task procedure, we reexamine these suggestions in the context of the root-based combinatorially rich Italian lexicon to clarify the role of semantic transparency (between the derived form and its stem) and affix productivity in determining whether derived forms are decompositionally represented and which neural systems are involved. Combined univariate and multivariate analyses reveal a key role for semantic transparency, modulated by affix productivity. Opaque forms show strong cohort competition effects, especially for words with nonproductive suffixes (ventura, “destiny”). The bilateral frontotemporal activity associated with these effects indicates that opaque derived words are processed as whole forms in the bihemispheric language system. Semantically transparent words with productive affixes (libreria, “bookshop”) showed no effects of lexical competition, suggesting morphologically structured co-representation of these derived forms and their stems, whereas transparent forms with nonproductive affixes (pineta, pine forest) show intermediate effects. Further multivariate analyses of the transparent derived forms revealed affix productivity effects selectively involving left inferior frontal regions, suggesting that the combinatorial and decompositional processes triggered by such forms can vary significantly across languages.
  • Carota, F. (2006). Derivational morphology of Italian: Principles for formalization. Literary and Linguistic Computing, 21(SUPPL. 1), 41-53. doi:10.1093/llc/fql007.

    Abstract

    The present paper investigates the major derivational strategies underlying the formation of suffixed words in Italian, with the purpose of tackling the issue of their formalization. After having specified the theoretical cognitive premises that orient the work, the interacting component modules of the suffixation process, i.e. morphonology, morphotactics and affixal semantics, are explored empirically, by drawing ample naturally occurring data on a Corpus of written Italian. A special attention is paid to the semantic mechanisms that are involved into suffixation. Some semantic nuclei are identified for the major suffixed word types of Italian, which are due to word formation rules active at the synchronic level, and a semantic configuration of productive suffixes is suggested. A general framework is then sketched, which combines classical finite-state methods with a feature unification-based word grammar. More specifically, the semantic information specified for the affixal material is internalised into the structures of the Lexical Functional Grammar (LFG). The formal model allows us to integrate the various modules of suffixation. In particular, it treats, on the one hand, the interface between morphonology/morphotactics and semantics and, on the other hand, the interface between suffixation and inflection. Furthermore, since LFG exploits a hierarchically organised lexicon in order to structure the information regarding the affixal material, affixal co-selectional restrictions are advatageously constrained, avoiding potential multiple spurious analysis/generations.
  • Carota, F., Nili, H., Pulvermüller, F., & Kriegeskorte, N. (2021). Distinct fronto-temporal substrates of distributional and taxonomic similarity among words: Evidence from RSA of BOLD signals. NeuroImage, 224: 117408. doi:10.1016/j.neuroimage.2020.117408.

    Abstract

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

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

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

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

    Abstract

    Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related disorders can provide useful entrypoints into biological pathways. In the present study, we performed a genome-wide linkage scan in a three-generational family in which dyslexia affects 14 of its 30 members and seems to be transmitted with an autosomal dominant pattern of inheritance. We identified a locus on chromosome 7q21.11 which cosegregated with dyslexia status, with the exception of two cases of phenocopy (LOD = 2.83). Whole-genome sequencing of key individuals enabled the assessment of coding and noncoding variation in the family. Two rare single-nucleotide variants (rs144517871 and rs143835534) within the first intron of the SEMA3C gene cosegregated with the 7q21.11 risk haplotype. In silico characterization of these two variants predicted effects on gene regulation, which we functionally validated for rs144517871 in human cell lines using luciferase reporter assays. SEMA3C encodes a secreted protein that acts as a guidance cue in several processes, including cortical neuronal migration and cellular polarization. We hypothesize that these intronic variants could have a cis-regulatory effect on SEMA3C expression, making a contribution to dyslexia susceptibility in this family.
  • Carrion Castillo, A., van Bergen, E., Vino, A., van Zuijen, T., de Jong, P. F., Francks, C., & Fisher, S. E. (2016). Evaluation of results from genome-wide studies of language and reading in a novel independent dataset. Genes, Brain and Behavior, 15(6), 531-541. doi:10.1111/gbb.12299.

    Abstract

    Recent genome wide association scans (GWAS) for reading and language abilities have pin-pointed promising new candidate loci. However, the potential contributions of these loci remain to be validated. In the present study, we tested 17 of the most significantly associated single nucleotide polymorphisms (SNPs) from these GWAS studies (p < 10−6 in the original studies) in a new independent population dataset from the Netherlands: known as FIOLA (Familial Influences On Literacy Abilities). This dataset comprised 483 children from 307 nuclear families, plus 505 adults (including parents of participating children), and provided adequate statistical power to detect the effects that were previously reported. The following measures of reading and language performance were collected: word reading fluency, nonword reading fluency, phonological awareness, and rapid automatized naming. Two SNPs (rs12636438, rs7187223) were associated with performance in multivariate and univariate testing, but these did not remain significant after correction for multiple testing. Another SNP (rs482700) was only nominally associated in the multivariate test. For the rest of the SNPs we did not find supportive evidence of association. The findings may reflect differences between our study and the previous investigations in respects such as the language of testing, the exact tests used, and the recruitment criteria. Alternatively, most of the prior reported associations may have been false positives. A larger scale GWAS meta-analysis than those previously performed will likely be required to obtain robust insights into the genomic architecture underlying reading and language.
  • Casillas, M., Brown, P., & Levinson, S. C. (2021). Early language experience in a Papuan community. Journal of Child Language, 48(4), 792-814. doi:10.1017/S0305000920000549.

    Abstract

    The rate at which young children are directly spoken to varies due to many factors, including (a) caregiver ideas about children as conversational partners and (b) the organization of everyday life. Prior work suggests cross-cultural variation in rates of child-directed speech is due to the former factor, but has been fraught with confounds in comparing postindustrial and subsistence farming communities. We investigate the daylong language environments of children (0;0–3;0) on Rossel Island, Papua New Guinea, a small-scale traditional community where prior ethnographic study demonstrated contingency-seeking child interaction styles. In fact, children were infrequently directly addressed and linguistic input rate was primarily affected by situational factors, though children’s vocalization maturity showed no developmental delay. We compare the input characteristics between this community and a Tseltal Mayan one in which near-parallel methods produced comparable results, then briefly discuss the models and mechanisms for learning best supported by our findings.
  • Casillas, M., Bobb, S. C., & Clark, E. V. (2016). Turn taking, timing, and planning in early language acquisition. Journal of Child Language, 43, 1310-1337. doi:10.1017/S0305000915000689.

    Abstract

    Young children answer questions with longer delays than adults do, and they don't reach typical adult response times until several years later. We hypothesized that this prolonged pattern of delay in children's timing results from competing demands: to give an answer, children must understand a question while simultaneously planning and initiating their response. Even as children get older and more efficient in this process, the demands on them increase because their verbal responses become more complex. We analyzed conversational question-answer sequences between caregivers and their children from ages 1;8 to 3;5, finding that children (1) initiate simple answers more quickly than complex ones, (2) initiate simple answers quickly from an early age, and (3) initiate complex answers more quickly as they grow older. Our results suggest that children aim to respond quickly from the start, improving on earlier-acquired answer types while they begin to practice later-acquired, slower ones.

    Additional information

    S0305000915000689sup001.docx
  • Castro-Caldas, A., Petersson, K. M., Reis, A., Stone-Elander, S., & Ingvar, M. (1998). The illiterate brain: Learning to read and write during childhood influences the functional organization of the adult brain. Brain, 121, 1053-1063. doi:10.1093/brain/121.6.1053.

    Abstract

    Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.
  • Ceroni, F., Simpson, N. H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P. F., Hennessy, E. R., Donnelly, P., Bentley, D. R., Martin, H., IMGSAC, SLI Consortium, WGS500 Consortium, Parr, J., Pagnamenta, A. T., Maestrini, E., Bacchelli, E., Fisher, S. E., & Newbury, D. F. (2015). Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis’. European Journal of Human Genetics, 23, 1113-1115. doi:10.1038/ejhg.2014.275.
  • Çetinçelik, M., Rowland, C. F., & Snijders, T. M. (2021). Do the eyes have it? A systematic review on the role of eye gaze in infant language development. Frontiers in Psychology, 11: 589096. doi:10.3389/fpsyg.2020.589096.

    Abstract

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

    Additional information

    data sheet
  • Chabout, J., Sarkar, A., Patel, S., Radden, T., Dunson, D., Fisher, S. E., & Jarvis, E. (2016). A Foxp2 mutation implicated in human speech deficits alters sequencing of ultrasonic vocalizations in adult male mice. Frontiers in Behavioral Neuroscience, 10: 197. doi:10.3389/fnbeh.2016.00197.

    Abstract

    Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation. Using novel statistical tools, we found that Foxp2 heterozygous mice did not have detectable changes in USV syllable acoustic structure, but produced shorter sequences and did not shift to more complex syntax in social contexts where wildtype animals did. Heterozygous mice also displayed a shift in the position of their rudimentary laryngeal motor cortex layer-5 neurons. Our findings indicate that although mouse USVs are mostly innate, the underlying contributions of FoxP2 to sequencing of vocalizations are conserved with humans.
  • Chan, A., Matthews, S., Tse, N., Lam, A., Chang, F., & Kidd, E. (2021). Revisiting Subject–Object Asymmetry in the Production of Cantonese Relative Clauses: Evidence From Elicited Production in 3-Year-Olds. Frontiers in Psychology, 12: 679008. doi:10.3389/fpsyg.2021.679008.

    Abstract

    Emergentist approaches to language acquisition identify a core role for language-specific experience and give primacy to other factors like function and domain-general learning mechanisms in syntactic development. This directly contrasts with a nativist structurally oriented approach, which predicts that grammatical development is guided by Universal Grammar and that structural factors constrain acquisition. Cantonese relative clauses (RCs) offer a good opportunity to test these perspectives because its typologically rare properties decouple the roles of frequency and complexity in subject- and object-RCs in a way not possible in European languages. Specifically, Cantonese object RCs of the classifier type are frequently attested in children’s linguistic experience and are isomorphic to frequent and early-acquired simple SVO transitive clauses, but according to formal grammatical analyses Cantonese subject RCs are computationally less demanding to process. Thus, the two opposing theories make different predictions: the emergentist approach predicts a specific preference for object RCs of the classifier type, whereas the structurally oriented approach predicts a subject advantage. In the current study we revisited this issue. Eighty-seven monolingual Cantonese children aged between 3;2 and 3;11 (Mage: 3;6) participated in an elicited production task designed to elicit production of subject- and object- RCs. The children were very young and most of them produced only noun phrases when RCs were elicited. Those (nine children) who did produce RCs produced overwhelmingly more object RCs than subject RCs, even when animacy cues were controlled. The majority of object RCs produced were the frequent classifier-type RCs. The findings concur with our hypothesis from the emergentist perspectives that input frequency and formal and functional similarity to known structures guide acquisition.
  • Chang, F., Bauman, M., Pappert, S., & Fitz, H. (2015). Do lemmas speak German?: A verb position effect in German structural priming. Cognitive Science, 39(5), 1113-1130. doi:10.1111/cogs.12184.

    Abstract

    Lexicalized theories of syntax often assume that verb-structure regularities are mediated by lemmas, which abstract over variation in verb tense and aspect. German syntax seems to challenge this assumption, because verb position depends on tense and aspect. To examine how German speakers link these elements, a structural priming study was performed which varied syntactic structure, verb position (encoded by tense and aspect), and verb overlap. Abstract structural priming was found, both within and across verb position, but priming was larger when the verb position was the same between prime and target. Priming was boosted by verb overlap, but there was no interaction with verb position. The results can be explained by a lemma model where tense and aspect are linked to structural choices in German. Since the architecture of this lemma model is not consistent with results from English, a connectionist model was developed which could explain the cross-linguistic variation in the production system. Together, these findings support the view that language learning plays an important role in determining the nature of structural priming in different languages
  • Chen, A., Gussenhoven, C., & Rietveld, T. (2004). Language specificity in perception of paralinguistic intonational meaning. Language and Speech, 47(4), 311-349.

    Abstract

    This study examines the perception of paralinguistic intonational meanings deriving from Ohala’s Frequency Code (Experiment 1) and Gussenhoven’s Effort Code (Experiment 2) in British English and Dutch. Native speakers of British English and Dutch listened to a number of stimuli in their native language and judged each stimulus on four semantic scales deriving from these two codes: SELF-CONFIDENT versus NOT SELF-CONFIDENT, FRIENDLY versus NOT FRIENDLY (Frequency Code); SURPRISED versus NOT SURPRISED, and EMPHATIC versus NOT EMPHATIC (Effort Code). The stimuli, which were lexically equivalent across the two languages, differed in pitch contour, pitch register and pitch span in Experiment 1, and in pitch register, peak height, peak alignment and end pitch in Experiment 2. Contrary to the traditional view that the paralinguistic usage of intonation is similar across languages, it was found that British English and Dutch listeners differed considerably in the perception of “confident,” “friendly,” “emphatic,” and “surprised.” The present findings support a theory of paralinguistic meaning based on the universality of biological codes, which however acknowledges a languagespecific component in the implementation of these codes.
  • Chen, J., Calhoun, V. D., Arias-Vasquez, A., Zwiers, M. P., Van Hulzen, K., Fernández, G., Fisher, S. E., Franke, B., Turner, J. A., & Liu, J. (2015). G-Protein genomic association with normal variation in gray matter density. Human Brain Mapping, 36(11), 4272-4286. doi:10.1002/hbm.22916.

    Abstract

    While detecting genetic variations underlying brain structures helps reveal mechanisms of neural disorders, high data dimensionality poses a major challenge for imaging genomic association studies. In this work, we present the application of a recently proposed approach, parallel independent component analysis with reference (pICA-R), to investigate genomic factors potentially regulating gray matter variation in a healthy population. This approach simultaneously assesses many variables for an aggregate effect and helps to elicit particular features in the data. We applied pICA-R to analyze gray matter density (GMD) images (274,131 voxels) in conjunction with single nucleotide polymorphism (SNP) data (666,019 markers) collected from 1,256 healthy individuals of the Brain Imaging Genetics (BIG) study. Guided by a genetic reference derived from the gene GNA14, pICA-R identified a significant SNP-GMD association (r = −0.16, P = 2.34 × 10−8), implying that subjects with specific genotypes have lower localized GMD. The identified components were then projected to an independent dataset from the Mind Clinical Imaging Consortium (MCIC) including 89 healthy individuals, and the obtained loadings again yielded a significant SNP-GMD association (r = −0.25, P = 0.02). The imaging component reflected GMD variations in frontal, precuneus, and cingulate regions. The SNP component was enriched in genes with neuronal functions, including synaptic plasticity, axon guidance, molecular signal transduction via PKA and CREB, highlighting the GRM1, PRKCH, GNA12, and CAMK2B genes. Collectively, our findings suggest that GNA12 and GNA14 play a key role in the genetic architecture underlying normal GMD variation in frontal and parietal regions
  • Cho, T., & McQueen, J. M. (2006). Phonological versus phonetic cues in native and non-native listening: Korean and Dutch listeners' perception of Dutch and English consonants. Journal of the Acoustical Society of America, 119(5), 3085-3096. doi:10.1121/1.2188917.

    Abstract

    We investigated how listeners of two unrelated languages, Korean and Dutch, process phonologically viable and nonviable consonants spoken in Dutch and American English. To Korean listeners, released final stops are nonviable because word-final stops in Korean are never released in words spoken in isolation, but to Dutch listeners, unreleased word-final stops are nonviable because word-final stops in Dutch are generally released in words spoken in isolation. Two phoneme monitoring experiments showed a phonological effect on both Dutch and English stimuli: Korean listeners detected the unreleased stops more rapidly whereas Dutch listeners detected the released stops more rapidly and/or more accurately. The Koreans, however, detected released stops more accurately than unreleased stops, but only in the non-native language they were familiar with (English). The results suggest that, in non-native speech perception, phonological legitimacy in the native language can be more important than the richness of phonetic information, though familiarity with phonetic detail in the non-native language can also improve listening performance.
  • Cho, T. (2004). Prosodically conditioned strengthening and vowel-to-vowel coarticulation in English. Journal of Phonetics, 32(2), 141-176. doi:10.1016/S0095-4470(03)00043-3.

    Abstract

    The goal of this study is to examine how the degree of vowel-to-vowel coarticulation varies as a function of prosodic factors such as nuclear-pitch accent (accented vs. unaccented), level of prosodic boundary (Prosodic Word vs. Intermediate Phrase vs. Intonational Phrase), and position-in-prosodic-domain (initial vs. final). It is hypothesized that vowels in prosodically stronger locations (e.g., in accented syllables and at a higher prosodic boundary) are not only coarticulated less with their neighboring vowels, but they also exert a stronger influence on their neighbors. Measurements of tongue position for English /a i/ over time were obtained with Carsten’s electromagnetic articulography. Results showed that vowels in prosodically stronger locations are coarticulated less with neighboring vowels, but do not exert a stronger influence on the articulation of neighboring vowels. An examination of the relationship between coarticulation and duration revealed that (a) accent-induced coarticulatory variation cannot be attributed to a duration factor and (b) some of the data with respect to boundary effects may be accounted for by the duration factor. This suggests that to the extent that prosodically conditioned coarticulatory variation is duration-independent, there is no absolute causal relationship from duration to coarticulation. It is proposed that prosodically conditioned V-to-V coarticulatory reduction is another type of strengthening that occurs in prosodically strong locations. The prosodically driven coarticulatory patterning is taken to be part of the phonetic signatures of the hierarchically nested structure of prosody.
  • Cholin, J., Schiller, N. O., & Levelt, W. J. M. (2004). The preparation of syllables in speech production. Journal of Memory and Language, 50(1), 47-61. doi:10.1016/j.jml.2003.08.003.

    Abstract

    Models of speech production assume that syllables play a functional role in the process of word-form encoding in speech production. In this study, we investigate this claim and specifically provide evidence about the level at which syllables come into play. We report two studies using an odd-man-out variant of the implicit priming paradigm to examine the role of the syllable during the process of word formation. Our results show that this modified version of the implicit priming paradigm can trace the emergence of syllabic structure during spoken word generation. Comparing these results to prior syllable priming studies, we conclude that syllables emerge at the interface between phonological and phonetic encoding. The results are discussed in terms of the WEAVER++ model of lexical access.
  • Cholin, J., Levelt, W. J. M., & Schiller, N. O. (2006). Effects of syllable frequency in speech production. Cognition, 99, 205-235. doi:10.1016/j.cognition.2005.01.009.

    Abstract

    In the speech production model proposed by [Levelt, W. J. M., Roelofs, A., Meyer, A. S. (1999). A theory of lexical access in speech production. Behavioral and Brain Sciences, 22, pp. 1-75.], syllables play a crucial role at the interface of phonological and phonetic encoding. At this interface, abstract phonological syllables are translated into phonetic syllables. It is assumed that this translation process is mediated by a so-called Mental Syllabary. Rather than constructing the motor programs for each syllable on-line, the mental syllabary is hypothesized to provide pre-compiled gestural scores for the articulators. In order to find evidence for such a repository, we investigated syllable-frequency effects: If the mental syllabary consists of retrievable representations corresponding to syllables, then the retrieval process should be sensitive to frequency differences. In a series of experiments using a symbol-position association learning task, we tested whether highfrequency syllables are retrieved and produced faster compared to low-frequency syllables. We found significant syllable frequency effects with monosyllabic pseudo-words and disyllabic pseudo-words in which the first syllable bore the frequency manipulation; no effect was found when the frequency manipulation was on the second syllable. The implications of these results for the theory of word form encoding at the interface of phonological and phonetic encoding; especially with respect to the access mechanisms to the mental syllabary in the speech production model by (Levelt et al.) are discussed.
  • Chu, M., & Kita, S. (2016). Co-thought and Co-speech Gestures Are Generated by the Same Action Generation Process. Journal of Experimental Psychology: Learning, Memory, and Cognition, 42(2), 257-270. doi:10.1037/xlm0000168.

    Abstract

    People spontaneously gesture when they speak (co-speech gestures) and when they solve problems silently (co-thought gestures). In this study, we first explored the relationship between these 2 types of gestures and found that individuals who produced co-thought gestures more frequently also produced co-speech gestures more frequently (Experiments 1 and 2). This suggests that the 2 types of gestures are generated from the same process. We then investigated whether both types of gestures can be generated from the representational use of the action generation process that also generates purposeful actions that have a direct physical impact on the world, such as manipulating an object or locomotion (the action generation hypothesis). To this end, we examined the effect of object affordances on the production of both types of gestures (Experiments 3 and 4). We found that individuals produced co-thought and co-speech gestures more often when the stimulus objects afforded action (objects with a smooth surface) than when they did not (objects with a spiky surface). These results support the action generation hypothesis for representational gestures. However, our findings are incompatible with the hypothesis that co-speech representational gestures are solely generated from the speech production process (the speech production hypothesis).
  • Chwilla, D., Hagoort, P., & Brown, C. M. (1998). The mechanism underlying backward priming in a lexical decision task: Spreading activation versus semantic matching. Quarterly Journal of Experimental Psychology, 51A(3), 531-560. doi:10.1080/713755773.

    Abstract

    Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.
  • Claus, A. (2004). Access management system. Language Archive Newsletter, 1(2), 5.
  • Cohen, E., Van Leeuwen, E. J. C., Barbosa, A., & Haun, D. B. M. (2021). Does accent trump skin color in guiding children’s social preferences? Evidence from Brazil’s natural lab. Cognitive Development, 60: 101111. doi:10.1016/j.cogdev.2021.101111.

    Abstract

    Previous research has shown significant effects of race and accent on children’s developing social preferences. Accounts of the primacy of accent biases in the evolution and ontogeny of discriminant cooperation have been proposed, but lack systematic cross-cultural investigation. We report three controlled studies conducted with 5−10 year old children across four towns in the Brazilian Amazon, selected for their variation in racial and accent homogeneity/heterogeneity. Study 1 investigated participants’ (N = 289) decisions about friendship and sharing across color-contrasted pairs of target individuals: Black-White, Black-Pardo (Brown), Pardo-White. Study 2 (N = 283) investigated effects of both color and accent (Local vs Non-Local) on friendship and sharing decisions. Overall, there was a significant bias toward the lighter colored individual. A significant preference for local accent mitigates but does not override the color bias, except in the site characterized by both racial and accent heterogeneity. Results also vary by participant age and color. Study 3 (N = 235) reports results of an accent discrimination task that shows an overall increase in accuracy with age. The research suggests that cooperative preferences based on accent and race develop differently in response to locally relevant parameters of racial and linguistic variation.
  • Collins, J. (2016). The role of language contact in creating correlations between humidity and tone. Journal of Language Evolution, 46-52. doi:10.1093/jole/lzv012.
  • Cooper, A., Brouwer, S., & Bradlow, A. R. (2015). Interdependent processing and encoding of speech and concurrent background noise. Attention, Perception & Psychophysics, 77(4), 1342-1357. doi:10.3758/s13414-015-0855-z.

    Abstract

    Speech processing can often take place in adverse listening conditions that involve the mixing of speech and background noise. In this study, we investigated processing dependencies between background noise and indexical speech features, using a speeded classification paradigm (Garner, 1974; Exp. 1), and whether background noise is encoded and represented in memory for spoken words in a continuous recognition memory paradigm (Exp. 2). Whether or not the noise spectrally overlapped with the speech signal was also manipulated. The results of Experiment 1 indicated that background noise and indexical features of speech (gender, talker identity) cannot be completely segregated during processing, even when the two auditory streams are spectrally nonoverlapping. Perceptual interference was asymmetric, whereby irrelevant indexical feature variation in the speech signal slowed noise classification to a greater extent than irrelevant noise variation slowed speech classification. This asymmetry may stem from the fact that speech features have greater functional relevance to listeners, and are thus more difficult to selectively ignore than background noise. Experiment 2 revealed that a recognition cost for words embedded in different types of background noise on the first and second occurrences only emerged when the noise and the speech signal were spectrally overlapping. Together, these data suggest integral processing of speech and background noise, modulated by the level of processing and the spectral separation of the speech and noise.
  • Costa, A., Cutler, A., & Sebastian-Galles, N. (1998). Effects of phoneme repertoire on phoneme decision. Perception and Psychophysics, 60, 1022-1031.

    Abstract

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

    Abstract

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

    Abstract

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

    Additional information

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  • Cristia, A., Lavechin, M., Scaff, C., Soderstrom, M., Rowland, C. F., Räsänen, O., Bunce, J., & Bergelson, E. (2021). A thorough evaluation of the Language Environment Analysis (LENA) system. Behavior Research Methods, 53, 467-486. doi:10.3758/s13428-020-01393-5.

    Abstract

    In the previous decade, dozens of studies involving thousands of children across several research disciplines have made use of a combined daylong audio-recorder and automated algorithmic analysis called the LENAⓇ system, which aims to assess children’s language environment. While the system’s prevalence in the language acquisition domain is steadily growing, there are only scattered validation efforts on only some of its key characteristics. Here, we assess the LENAⓇ system’s accuracy across all of its key measures: speaker classification, Child Vocalization Counts (CVC), Conversational Turn Counts (CTC), and Adult Word Counts (AWC). Our assessment is based on manual annotation of clips that have been randomly or periodically sampled out of daylong recordings, collected from (a) populations similar to the system’s original training data (North American English-learning children aged 3-36 months), (b) children learning another dialect of English (UK), and (c) slightly older children growing up in a different linguistic and socio-cultural setting (Tsimane’ learners in rural Bolivia). We find reasonably high accuracy in some measures (AWC, CVC), with more problematic levels of performance in others (CTC, precision of male adults and other children). Statistical analyses do not support the view that performance is worse for children who are dissimilar from the LENAⓇ original training set. Whether LENAⓇ results are accurate enough for a given research, educational, or clinical application depends largely on the specifics at hand. We therefore conclude with a set of recommendations to help researchers make this determination for their goals.
  • Croijmans, I. (2016). Gelukkig kunnen we erover praten: Over de kunst om geuren en smaken in woorden te omschrijven. koffieTcacao, 17, 80-81.
  • Croijmans, I., & Majid, A. (2016). Not all flavor expertise is equal: The language of wine and coffee experts. PLoS One, 11(6): e0155845. doi:10.1371/journal.pone.0155845.

    Abstract

    People in Western cultures are poor at naming smells and flavors. However, for wine and
    coffee experts, describing smells and flavors is part of their daily routine. So are experts bet-
    ter than lay people at conveying smells and flavors in language? If smells and flavors are
    more easily linguistically expressed by experts, or more

    codable

    , then experts should be
    better than novices at describing smells and flavors. If experts are indeed better, we can
    also ask how general this advantage is: do experts show higher codability only for smells
    and flavors they are expert in (i.e., wine experts for wine and coffee experts for coffee) or is
    their linguistic dexterity more general? To address these questions, wine experts, coffee
    experts, and novices were asked to describe the smell and flavor of wines, coffees, every-
    day odors, and basic tastes. The resulting descriptions were compared on a number of
    measures. We found expertise endows a modest advantage in smell and flavor naming.
    Wine experts showed more consistency in how they described wine smells and flavors than
    coffee experts, and novices; but coffee experts were not more consistent for coffee descriptions. Neither expert group was any more accurate at identifying everyday smells or tastes. Interestingly, both wine and coffee experts tended to use more source-based terms (e.g., vanilla) in descriptions of their own area of expertise whereas novices tended to use more
    evaluative terms (e.g.,nice). However, the overall linguistic strategies for both groups were en par. To conclude, experts only have a limited, domain-specific advantage when communicating about smells and flavors. The ability to communicate about smells and flavors is a matter not only of perceptual training, but specific linguistic training too

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    Data availability
  • Cronin, K. A., De Groot, E., & Stevens, J. M. G. (2015). Bonobos show limited social tolerance in a group setting: A comparison with chimpanzees and a test of the Relational Model. Folia primatologica, 86, 164-177. doi:10.1159/000373886.

    Abstract

    Social tolerance is a core aspect of primate social relationships with implications for the evolution of cooperation, prosociality and social learning. We measured the social tolerance of bonobos in an experiment recently validated with chimpanzees to allow for a comparative assessment of group-level tolerance, and found that the bonobo group studied here exhibited lower social tolerance on average than chimpanzees. Furthermore, following the Relational Model [de Waal, 1996], we investigated whether bonobos responded to an increased potential for social conflict with tolerance, conflict avoidance or conflict escalation, and found that only behaviours indicative of conflict escalation differed across conditions. Taken together, these findings contribute to the current debate over the level of social tolerance of bonobos and lend support to the position that the social tolerance of bonobos may not be notably high compared with other primates.
  • Cronin, K. A., Acheson, D. J., Hernández, P., & Sánchez, A. (2015). Hierarchy is Detrimental for Human Cooperation. Scientific Reports, 5: 18634. doi:10.1038/srep18634.

    Abstract

    Studies of animal behavior consistently demonstrate that the social environment impacts cooperation, yet the effect of social dynamics has been largely excluded from studies of human cooperation. Here, we introduce a novel approach inspired by nonhuman primate research to address how social hierarchies impact human cooperation. Participants competed to earn hierarchy positions and then could cooperate with another individual in the hierarchy by investing in a common effort. Cooperation was achieved if the combined investments exceeded a threshold, and the higher ranked individual distributed the spoils unless control was contested by the partner. Compared to a condition lacking hierarchy, cooperation declined in the presence of a hierarchy due to a decrease in investment by lower ranked individuals. Furthermore, hierarchy was detrimental to cooperation regardless of whether it was earned or arbitrary. These findings mirror results from nonhuman primates and demonstrate that hierarchies are detrimental to cooperation. However, these results deviate from nonhuman primate findings by demonstrating that human behavior is responsive to changing hierarchical structures and suggests partnership dynamics that may improve cooperation. This work introduces a controlled way to investigate the social influences on human behavior, and demonstrates the evolutionary continuity of human behavior with other primate species.
  • Cronin, K. A., West, V., & Ross, S. R. (2016). Investigating the Relationship between Welfare and Rearing Young in Captive Chimpanzees (Pan troglodytes). Applied Animal Behaviour Science, 181, 166-172. doi:10.1016/j.applanim.2016.05.014.

    Abstract

    Whether the opportunity to breed and rear young improves the welfare of captive animals is currently debated. However, there is very little empirical data available to evaluate this relationship and this study is a first attempt to contribute objective data to this debate. We utilized the existing variation in the reproductive experiences of sanctuary chimpanzees at Chimfunshi Wildlife Orphanage Trust in Zambia to investigate whether breeding and rearing young was associated with improved welfare for adult females (N = 43). We considered several behavioural welfare indicators, including rates of luxury behaviours and abnormal or stress-related behaviours under normal conditions and conditions inducing social stress. Furthermore, we investigated whether spending time with young was associated with good or poor welfare for adult females, regardless of their kin relationship. We used generalized linear mixed models and found no difference between adult females with and without dependent young on any welfare indices, nor did we find that time spent in proximity to unrelated young predicted welfare (all full-null model comparisons likelihood ratio tests P > 0.05). However, we did find that coprophagy was more prevalent among mother-reared than non-mother-reared individuals, in line with recent work suggesting this behaviour may have a different etiology than other behaviours often considered to be abnormal. In sum, the findings from this initial study lend support to the hypothesis that the opportunity to breed and rear young does not provide a welfare benefit for chimpanzees in captivity. We hope this investigation provides a valuable starting point for empirical study into the welfare implications of managed breeding.

    Additional information

    mmc1.pdf
  • Cronin, K. A., Mitchell, M. A., Lonsdorf, E. V., & Thompson, S. D. (2006). One year later: Evaluation of PMC-Recommended births and transfers. Zoo Biology, 25, 267-277. doi:10.1002/zoo.20100.

    Abstract

    To meet their exhibition, conservation, education, and scientific goals, members of the American Zoo and Aquarium Association (AZA) collaborate to manage their living collections as single species populations. These cooperative population management programs, Species Survival Planss (SSP) and Population Management Plans (PMP), issue specimen-by-specimen recommendations aimed at perpetuating captive populations by maintaining genetic diversity and demographic stability. Species Survival Plans and PMPs differ in that SSP participants agree to complete recommendations, whereas PMP participants need only take recommendations under advisement. We evaluated the effect of program type and the number of participating institutions on the success of actions recommended by the Population Management Center (PMC): transfers of specimens between institutions, breeding, and target number of offspring. We analyzed AZA studbook databases for the occurrence of recommended or unrecommended transfers and births during the 1-year period after the distribution of standard AZA Breeding-and-Transfer Plans. We had three major findings: 1) on average, both SSPs and PMPs fell about 25% short of their target; however, as the number of participating institutions increased so too did the likelihood that programs met or exceeded their target; 2) SSPs exhibited significantly greater transfer success than PMPs, although transfer success for both program types was below 50%; and 3) SSPs exhibited significantly greater breeding success than PMPs, although breeding success for both program types was below 20%. Together, these results indicate that the science and sophistication behind genetic and demographic management of captive populations may be compromised by the challenges of implementation.
  • Cuellar-Partida, G., Tung, J. Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O. A., Barroso, I., Beckmann, J. S., Boks, M. P., Boomsma, D. I., Boyd, H. A., Breteler, M. M. B., Campbell, H., Chasman, D. I., Cherkas, L. F., Davies, G., De Geus, E. J. C., Deary, I. J., Deloukas, P., Dick, D. M. and 98 moreCuellar-Partida, G., Tung, J. Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O. A., Barroso, I., Beckmann, J. S., Boks, M. P., Boomsma, D. I., Boyd, H. A., Breteler, M. M. B., Campbell, H., Chasman, D. I., Cherkas, L. F., Davies, G., De Geus, E. J. C., Deary, I. J., Deloukas, P., Dick, D. M., Duffy, D. L., Eriksson, J. G., Esko, T., Feenstra, B., Geller, F., Gieger, C., Giegling, I., Gordon, S. D., Han, J., Hansen, T. F., Hartmann, A. M., Hayward, C., Heikkilä, K., Hicks, A. A., Hirschhorn, J. N., Hottenga, J.-J., Huffman, J. E., Hwang, L.-D., Ikram, M. A., Kaprio, J., Kemp, J. P., Khaw, K.-T., Klopp, N., Konte, B., Kutalik, Z., Lahti, J., Li, X., Loos, R. J. F., Luciano, M., Magnusson, S. H., Mangino, M., Marques-Vidal, P., Martin, N. G., McArdle, W. L., McCarthy, M. I., Medina-Gomez, C., Melbye, M., Melville, S. A., Metspalu, A., Milani, L., Mooser, V., Nelis, M., Nyholt, D. R., O'Connell, K. S., Ophoff, R. A., Palmer, C., Palotie, A., Palviainen, T., Pare, G., Paternoster, L., Peltonen, L., Penninx, B. W. J. H., Polasek, O., Pramstaller, P. P., Prokopenko, I., Raikkonen, K., Ripatti, S., Rivadeneira, F., Rudan, I., Rujescu, D., Smit, J. H., Smith, G. D., Smoller, J. W., Soranzo, N., Spector, T. D., St Pourcain, B., Starr, J. M., Stefánsson, H., Steinberg, S., Teder-Laving, M., Thorleifsson, G., Stefansson, K., Timpson, N. J., Uitterlinden, A. G., Van Duijn, C. M., Van Rooij, F. J. A., Vink, J. M., Vollenweider, P., Vuoksimaa, E., Waeber, G., Wareham, N. J., Warrington, N., Waterworth, D., Werge, T., Wichmann, H.-E., Widen, E., Willemsen, G., Wright, A. F., Wright, M. J., Xu, M., Zhao, J. H., Kraft, P., Hinds, D. A., Lindgren, C. M., Magi, R., Neale, B. M., Evans, D. M., & Medland, S. E. (2021). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour, 5, 59-70. doi:10.1038/s41562-020-00956-y.

    Abstract

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

    Additional information

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

    Abstract

    Native American English and non-native(Dutch)listeners identified either the consonant or the vowel in all possible American English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios(0, 8, and 16 dB). The phoneme identification
    performance of the non-native listeners was less accurate than that of the native listeners. All listeners were adversely affected by noise. With these isolated syllables, initial segments were harder to identify than final segments. Crucially, the effects of language background and noise did not interact; the performance asymmetry between the native and non-native groups was not significantly different across signal-to-noise ratios. It is concluded that the frequently reported disproportionate difficulty of non-native listening under disadvantageous conditions is not due to a disproportionate increase in phoneme misidentifications.
  • Cutler, A. (2004). On spoken-word recognition in a second language. Newsletter, American Association of Teachers of Slavic and East European Languages, 47, 15-15.
  • Cutler, A., Aslin, R. N., Gervain, J., & Nespor, M. (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. (1985). Cross-language psycholinguistics. Linguistics, 23, 659-667.
  • 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., Weber, A., & Otake, T. (2006). Asymmetric mapping from phonetic to lexical representations in second-language listening. Journal of Phonetics, 34(2), 269-284. doi:10.1016/j.wocn.2005.06.002.

    Abstract

    The mapping of phonetic information to lexical representations in second-language (L2) listening was examined using an eyetracking paradigm. Japanese listeners followed instructions in English to click on pictures in a display. When instructed to click on a picture of a rocket, they experienced interference when a picture of a locker was present, that is, they tended to look at the locker instead. However, when instructed to click on the locker, they were unlikely to look at the rocket. This asymmetry is consistent with a similar asymmetry previously observed in Dutch listeners’ mapping of English vowel contrasts to lexical representations. The results suggest that L2 listeners may maintain a distinction between two phonetic categories of the L2 in their lexical representations, even though their phonetic processing is incapable of delivering the perceptual discrimination required for correct mapping to the lexical distinction. At the phonetic processing level, one of the L2 categories is dominant; the present results suggest that dominance is determined by acoustic–phonetic proximity to the nearest L1 category. At the lexical processing level, representations containing this dominant category are more likely than representations containing the non-dominant category to be correctly contacted by the phonetic input.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1988). Limits on bilingualism [Letters to Nature]. Nature, 340, 229-230. doi:10.1038/340229a0.

    Abstract

    SPEECH, in any language, is continuous; speakers provide few reliable cues to the boundaries of words, phrases, or other meaningful units. To understand speech, listeners must divide the continuous speech stream into portions that correspond to such units. This segmentation process is so basic to human language comprehension that psycholinguists long assumed that all speakers would do it in the same way. In previous research1,2, however, we reported that segmentation routines can be language-specific: speakers of French process spoken words syllable by syllable, but speakers of English do not. French has relatively clear syllable boundaries and syllable-based timing patterns, whereas English has relatively unclear syllable boundaries and stress-based timing; thus syllabic segmentation would work more efficiently in the comprehension of French than in the comprehension of English. Our present study suggests that at this level of language processing, there are limits to bilingualism: a bilingual speaker has one and only one basic language.
  • Cutler, A. (1992). Proceedings with confidence. New Scientist, (1825), 54.
  • Cutler, A. (2015). Representation of second language phonology. Applied Psycholinguistics, 36(1), 115-128. doi:10.1017/S0142716414000459.

    Abstract

    Orthographies encode phonological information only at the level of words (chiefly, the information encoded concerns phonetic segments; in some cases, tonal information or default stress may be encoded). Of primary interest to second language (L2) learners is whether orthography can assist in clarifying L2 phonological distinctions that are particularly difficult to perceive (e.g., where one native-language phonemic category captures two L2 categories). A review of spoken-word recognition evidence suggests that orthographic information can install knowledge of such a distinction in lexical representations but that this does not affect learners’ ability to perceive the phonemic distinction in speech. Words containing the difficult phonemes become even harder for L2 listeners to recognize, because perception maps less accurately to lexical content.
  • 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., & Norris, D. (1988). The role of strong syllables in segmentation for lexical access. Journal of Experimental Psychology: Human Perception and Performance, 14, 113-121. doi:10.1037/0096-1523.14.1.113.

    Abstract

    A model of speech segmentation in a stress language is proposed, according to which the occurrence of a strong syllable triggers segmentation of the speech signal, whereas occurrence of a weak syllable does not trigger segmentation. We report experiments in which listeners detected words embedded in nonsense bisyllables more slowly when the bisyllable had two strong syllables than when it had a strong and a weak syllable; mint was detected more slowly in mintayve than in mintesh. According to our proposed model, this result is an effect of segmentation: When the second syllable is strong, it is segmented from the first syllable, and successful detection of the embedded word therefore requires assembly of speech material across a segmentation position. Speech recognition models involving phonemic or syllabic recoding, or based on strictly left-to-right processes, do not predict this result. It is argued that segmentation at strong syllables in continuous speech recognition serves the purpose of detecting the most efficient locations at which to initiate lexical access. (C) 1988 by the American Psychological Association
  • Cutler, A., Hawkins, J. A., & Gilligan, G. (1985). The suffixing preference: A processing explanation. Linguistics, 23, 723-758.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1992). The monolingual nature of speech segmentation by bilinguals. Cognitive Psychology, 24, 381-410.

    Abstract

    Monolingual French speakers employ a syllable-based procedure in speech segmentation; monolingual English speakers use a stress-based segmentation procedure and do not use the syllable-based procedure. In the present study French-English bilinguals participated in segmentation experiments with English and French materials. Their results as a group did not simply mimic the performance of English monolinguals with English language materials and of French monolinguals with French language materials. Instead, the bilinguals formed two groups, defined by forced choice of a dominant language. Only the French-dominant group showed syllabic segmentation and only with French language materials. The English-dominant group showed no syllabic segmentation in either language. However, the English-dominant group showed stress-based segmentation with English language materials; the French-dominant group did not. We argue that rhythmically based segmentation procedures are mutually exclusive, as a consequence of which speech segmentation by bilinguals is, in one respect at least, functionally monolingual.
  • Cutler, A., & Fay, D. (1975). You have a Dictionary in your Head, not a Thesaurus. Texas Linguistic Forum, 1, 27-40.
  • 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.
  • Davidson, D. J. (2006). Strategies for longitudinal neurophysiology [commentary on Osterhout et al.]. Language Learning, 56(suppl. 1), 231-234. doi:10.1111/j.1467-9922.2006.00362.x.
  • 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. (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.

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