Publications

Displaying 301 - 400 of 1640
  • Dunn, M. (2003). Pioneers of Island Melanesia project. Oceania Newsletter, 30/31, 1-3.
  • Dunn, M. (2009). Contact and phylogeny in Island Melanesia. Lingua, 11(11), 1664-1678. doi:10.1016/j.lingua.2007.10.026.

    Abstract

    This paper shows that despite evidence of structural convergence between some of the Austronesian and non-Austronesian (Papuan) languages of Island Melanesia, statistical methods can detect two independent genealogical signals derived from linguistic structural features. Earlier work by the author and others has presented a maximum parsimony analysis which gave evidence for a genealogical connection between the non-Austronesian languages of island Melanesia. Using the same data set, this paper demonstrates for the non-statistician the application of more sophisticated statistical techniques—including Bayesian methods of phylogenetic inference, and shows that the evidence for common ancestry is if anything stronger than originally supposed.
  • Dunn, M. (2014). [Review of the book Evolutionary Linguistics by April McMahon and Robert McMahon]. American Anthropologist, 116(3), 690-691.
  • Eaves, L. J., St Pourcain, B., Smith, G. D., York, T. P., & Evans, D. M. (2014). Resolving the Effects of Maternal and Offspring Genotype on Dyadic Outcomes in Genome Wide Complex Trait Analysis (“M-GCTA”). Behavior Genetics, 44(5), 445-455. doi:10.1007/s10519-014-9666-6.

    Abstract

    Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.
  • Eibl-Eibesfeldt, I., & Senft, G. (1991). Trobriander (Papua-Neu-guinea, Trobriand -Inseln, Kaile'una) Tänze zur Einleitung des Erntefeier-Rituals. Film E 3129. Trobriander (Papua-Neuguinea, Trobriand-Inseln, Kiriwina); Ausschnitte aus einem Erntefesttanz. Film E3130. Publikationen zu wissenschaftlichen Filmen. Sektion Ethnologie, 17, 1-17.
  • Eimer, M., Kiss, M., Press, C., & Sauter, D. (2009). The roles of feature-specific task set and bottom-up salience in attentional capture: An ERP study. Journal of Experimental Psychology: Human Perception and Performance, 35, 1316-1328. doi:10.1037/a0015872.

    Abstract

    We investigated the roles of top-down task set and bottom-up stimulus salience for feature-specific attentional capture. ERPs and behavioural performance were measured in two experiments where spatially nonpredictive cues preceded visual search arrays that included a colour-defined target. When cue arrays contained a target-colour singleton, behavioural spatial cueing effects were accompanied by a cue-induced N2pc component, indicative of attentional capture. Behavioural cueing effects and N2pc components were only minimally attenuated for non-singleton relative to singleton target-colour cues, demonstrating that top-down task set has a much greater impact on attentional capture than bottom-up salience. For nontarget-colour singleton cues, no N2pc was triggered, but an anterior N2 component indicative of top-down inhibition was observed. In Experiment 2, these cues produced an inverted behavioural cueing effect, which was accompanied by a delayed N2pc to targets presented at cued locations. These results suggest that perceptually salient visual stimuli without task-relevant features trigger a transient location-specific inhibition process that prevents attentional capture, but delays the selection of subsequent target events.
  • Eising, E., Carrion Castillo, A., Vino, A., Strand, E. A., Jakielski, K. J., Scerri, T. S., Hildebrand, M. S., Webster, R., Ma, A., Mazoyer, B., Francks, C., Bahlo, M., Scheffer, I. E., Morgan, A. T., Shriberg, L. D., & Fisher, S. E. (2019). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular Psychiatry, 24, 1065-1078. doi:10.1038/s41380-018-0020-x.

    Abstract

    Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.

    Additional information

    Eising_etal_2018sup.pdf
  • Eisner, F., McGettigan, C., Faulkner, A., Rosen, S., & Scott, S. K. (2010). Inferior frontal gyrus activation predicts individual differences in perceptual learning of cochlear-implant simulations. Journal of Neuroscience, 30(21), 7179-7186. doi:10.1523/JNEUROSCI.4040-09.2010.
  • Enard, W., Gehre, S., Hammerschmidt, K., Hölter, S. M., Blass, T., Somel, M., Brückner, M. K., Schreiweis, C., Winter, C., Sohr, R., Becker, L., Wiebe, V., Nickel, B., Giger, T., Müller, U., Groszer, M., Adler, T., Aguilar, A., Bolle, I., Calzada-Wack, J. and 36 moreEnard, W., Gehre, S., Hammerschmidt, K., Hölter, S. M., Blass, T., Somel, M., Brückner, M. K., Schreiweis, C., Winter, C., Sohr, R., Becker, L., Wiebe, V., Nickel, B., Giger, T., Müller, U., Groszer, M., Adler, T., Aguilar, A., Bolle, I., Calzada-Wack, J., Dalke, C., Ehrhardt, N., Favor, J., Fuchs, H., Gailus-Durner, V., Hans, W., Hölzlwimmer, G., Javaheri, A., Kalaydjiev, S., Kallnik, M., Kling, E., Kunder, S., Moßbrugger, I., Naton, B., Racz, I., Rathkolb, B., Rozman, J., Schrewe, A., Busch, D. H., Graw, J., Ivandic, B., Klingenspor, M., Klopstock, T., Ollert, M., Quintanilla-Martinez, L., Schulz, H., Wolf, E., Wurst, W., Zimmer, A., Fisher, S. E., Morgenstern, R., Arendt, T., Hrabé de Angelis, M., Fischer, J., Schwarz, J., & Pääbo, S. (2009). A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice. Cell, 137(5), 961-971. doi:10.1016/j.cell.2009.03.041.

    Abstract

    It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene of mice. Although these mice are generally healthy, they have qualitatively different ultrasonic vocalizations, decreased exploratory behavior and decreased dopamine concentrations in the brain suggesting that the humanized Foxp2 allele affects basal ganglia. In the striatum, a part of the basal ganglia affected in humans with a speech deficit due to a nonfunctional FOXP2 allele, we find that medium spiny neurons have increased dendrite lengths and increased synaptic plasticity. Since mice carrying one nonfunctional Foxp2 allele show opposite effects, this suggests that alterations in cortico-basal ganglia circuits might have been important for the evolution of speech and language in humans.
  • Enfield, N. J. (2003). Producing and editing diagrams using co-speech gesture: Spatializing non-spatial relations in explanations of kinship in Laos. Journal of Linguistic Anthropology, 13(1), 7-50. doi:10.1525/jlin.2003.13.1.7.

    Abstract

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

    Abstract

    Words such as what -d'you-call-it raise issues at the heart of the semantics/pragmatics interface. Expressions of this kind are conventionalised and have meanings which, while very general, are explicitly oriented to the interactional nature of the speech context, drawing attention to a speaker's assumption that the listener can figure out what the speaker is referring to. The details of such meanings can account for functional contrast among similar expressions, in a single language as well as cross-linguistically. The English expressions what -d'you-call-it and you-know-what are compared, along with a comparable Lao expression meaning, roughly, ‘that thing’. Proposed definitions of the meanings of these expressions account for their different patterns of use. These definitions include reference to the speech act participants, a point which supports the view that what -d'you-call-it words can be considered deictic. Issues arising from the descriptive section of this paper include the question of how such terms are derived, as well as their degree of conventionality.
  • Enfield, N. J. (2010). Burnt banknotes [Review of the books Making the social world by John R. Searle and The theory of social and cultural selection by W.G. Runciman]. The Times Literary Supplement, September 3, 2010, 3-4.
  • Enfield, N. J. (2009). Common tragedy [Review of the book The native mind and the cultural construction of nature by Scott Atran Douglas Medin]. The Times Literary Supplement, September 18,2009, 10-11.
  • Enfield, N. J. (2010). [Review of the book Gesturecraft: The manu-facture of meaning by Jürgen Streeck]. Pragmatics & Cognition, 18(2), 465-467. doi:10.1075/pc.18.2.11enf.

    Abstract

    Reviews the book, Gesturecraft: The Manu-Facture of Meaning by Jurgen Streeck (see record 2009-03892-000). This book on gesture goes back to well before the recent emergence of a mainstream of interest in the topic. The author of this book presents his vision of the hands' involvement in the making of meaning. The author's stance falls within a second broad category of work, a much more interdisciplinary approach, which focuses on context more richly construed. The approach not only addresses socially and otherwise distributed cognition, but also tackles the less psychologically framed concerns of meaning as a collaborative achievement and its role in the practicalities of human social life. The author's insistence that the right point of departure for gesture work is "human beings in their daily activities" leads to a view of gesture that begins not with language, and not with mind, but with types of social and contextual settings that constitute ecologies for the deployment of the hands in making meaning. The author's categories go beyond a reliance on semiotic properties of hand movements or their relation to accompanying speech, being grounded also in contextual aspects of the local setting, social activity type and communicative goals. Thus, this book is a unique contribution to gesture research.
  • Enfield, N. J. (2009). [Review of the book Serial verb constructions: A cross-linguistic typology ed. by Alexandra Y. Aikhenvald and R. M. W. Dixon]. Language, 85, 445-451. doi:10.1353/lan.0.0124.
  • Enfield, N. J. (2003). Demonstratives in space and interaction: Data from Lao speakers and implications for semantic analysis. Language, 79(1), 82-117.

    Abstract

    The semantics of simple (i.e. two-term) systems of demonstratives have in general hitherto been treated as inherently spatial and as marking a symmetrical opposition of distance (‘proximal’ versus ‘distal’), assuming the speaker as a point of origin. More complex systems are known to add further distinctions, such as visibility or elevation, but are assumed to build on basic distinctions of distance. Despite their inherently context-dependent nature, little previous work has based the analysis of demonstratives on evidence of their use in real interactional situations. In this article, video recordings of spontaneous interaction among speakers of Lao (Southwestern Tai, Laos) are examined in an analysis of the two Lao demonstrative determiners nii4 and nan4. A hypothesis of minimal encoded semantics is tested against rich contextual information, and the hypothesis is shown to be consistent with the data. Encoded conventional meanings must be kept distinct from contingent contextual information and context-dependent pragmatic implicatures. Based on examples of the two Lao demonstrative determiners in exophoric uses, the following claims are made. The term nii4 is a semantically general demonstrative, lacking specification of ANY spatial property (such as location or distance). The term nan4 specifies that the referent is ‘not here’ (encoding ‘location’ but NOT ‘distance’). Anchoring the semantic specification in a deictic primitive ‘here’ allows a strictly discrete intensional distinction to be mapped onto an extensional range of endless elasticity. A common ‘proximal’ spatial interpretation for the semantically more general term nii4 arises from the paradigmatic opposition of the two demonstrative determiners. This kind of analysis suggests a reappraisal of our general understanding of the semantics of demonstrative systems universally. To investigate the question in sufficient detail, however, rich contextual data (preferably collected on video) is necessary
  • Enfield, N. J. (2004). Nominal classification in Lao: A sketch. Sprachtypologie und Universalienforschung, 57(2/3), 117-143.
  • Enfield, N. J. (2010). Language and culture in Laos: An agenda for research. Journal of Lao Studies, 1(1), 48-54.
  • Enfield, N. J. (2009). Language: Social motives for syntax [Review of the book Origins of human communication by Michael Tomasello]. Science, 324(5923), 39. doi:10.1126/science.1172660.
  • Enfield, N. J. (2015). Linguistic relativity from reference to agency. Annual Review of Anthropology, 44, 207-224. doi:10.1146/annurev-anthro-102214-014053.

    Abstract

    How are language, thought, and reality related? Interdisciplinary research on this question over the past two decades has made significant progress. Most of the work has been Neo-Whorfian in two senses: One, it has been driven by research questions that were articulated most explicitly and most famously by the linguistic anthropologist Benjamin Lee Whorf, and two, it has limited the scope of inquiry to Whorf's narrow interpretations of the key terms “language,” “thought,” and “reality.” This article first reviews some of the ideas and results of Neo-Whorfian work, concentrating on the special role of linguistic categorization in heuristic decision making. It then considers new and potential directions in work on linguistic relativity, taken broadly to mean the ways in which the perspective offered by a given language can affect thought (or mind) and reality. New lines of work must reconsider the idea of linguistic relativity by exploring the range of available interpretations of the key terms: in particular, “language” beyond reference, “thought” beyond nonsocial processing, and “reality” beyond brute, nonsocial facts.
  • Enfield, N. J. (2010). Lost in translation [Letter to the editor]. New Scientist, 207 (2773), 31. doi:10.1016/S0262-4079(10)61971-9.

    Abstract

    no abstract available
  • Enfield, N. J. (2015). Other-initiated repair in Lao. Open linguistics, 1(1), 119-144. doi:10.2478/opli-2014-0006.

    Abstract

    This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversation in the Lao language (a Southwestern Tai language spoken in Laos, Thailand, and Cambodia). The article reports findings specific to the Lao language from the comparative project that is the topic of this special issue. While the scope is general to the overall pattern of other-initiated repair as a set of practices and a system of semiotic resources, special attention is given to (1) the range of repair operations that are elicited by open other-initiators of repair in Lao, especially the subtle changes made when problem turns are repeated, and (2) the use of phrase-final particles—a characteristic feature of Lao grammar—in the marking of both other-initiations of repair and repair solution turns
  • Enfield, N. J., & Diffloth, G. (2009). Phonology and sketch grammar of Kri, a Vietic language of Laos. Cahiers de Linguistique - Asie Orientale (CLAO), 38(1), 3-69.
  • Enfield, N. J. (2010). Questions and responses in Lao. Journal of Pragmatics, 42, 2649-2665. doi:10.1016/j.pragma.2010.04.004.

    Abstract

    This paper surveys the structure of questions and their responses in Lao, a Southwestern Tai language spoken in Laos, Thailand, and Cambodia. Data are from video-recordings of naturally occurring conversation in Vientiane, Laos. An outline of the lexico-grammatical options for formulating questions describes content (‘WH’) questions and polar (‘yes/no’) questions. The content question forms are from a set of indefinite pronouns. The WHAT, WHERE, and WHO categories have higher token frequency than the other categories. Polar questions are mostly formed by the addition of different turn-final markers, with different meanings. ‘Declarative questions’ (i.e., polar questions which are formally identical to statements) are common. An examination of the interactional functions of questions in the data show asymmetries between polar and content questions, with content questions used mostly for requesting information, while polar questions are also widely used for requesting confirmation, among other things. There is discussion of the kinds of responses that are appropriate or preferred given certain types of question. Alongside discussion of numerous examples, the paper provides quantitative data on the frequencies of various patterns in questions and responses. These data form part of a large-scale, ten-language coding study.
  • Enfield, N. J. (2009). Relationship thinking and human pragmatics. Journal of Pragmatics, 41, 60-78. doi:10.1016/j.pragma.2008.09.007.

    Abstract

    The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.
  • Enfield, N. J., Stivers, T., Brown, P., Englert, C., Harjunpää, K., Hayashi, M., Heinemann, T., Hoymann, G., Keisanen, T., Rauniomaa, M., Raymond, C. W., Rossano, F., Yoon, K.-E., Zwitserlood, I., & Levinson, S. C. (2019). Polar answers. Journal of Linguistics, 55(2), 277-304. doi:10.1017/S0022226718000336.

    Abstract

    How do people answer polar questions? In this fourteen-language study of answers to questions in conversation, we compare the two main strategies; first, interjection-type answers such as uh-huh (or equivalents yes, mm, head nods, etc.), and second, repetition-type answers that repeat some or all of the question. We find that all languages offer both options, but that there is a strong asymmetry in their frequency of use, with a global preference for interjection-type answers. We propose that this preference is motivated by the fact that the two options are not equivalent in meaning. We argue that interjection-type answers are intrinsically suited to be the pragmatically unmarked, and thus more frequent, strategy for confirming polar questions, regardless of the language spoken. Our analysis is based on the semantic-pragmatic profile of the interjection-type and repetition-type answer strategies, in the context of certain asymmetries inherent to the dialogic speech act structure of question–answer sequences, including sequential agency and thematic agency. This allows us to see possible explanations for the outlier distributions found in ǂĀkhoe Haiǁom and Tzeltal.
  • Enfield, N. J. (2010). Without social context? [Book review of Fitch 2010 and Larson et al. 2010]. Science, 329(5999), 1600-1601. doi:10.1126/science.1194229.

    Abstract

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

    Abstract

    Based on an analysis of 350 questions and their responses in a corpus of ordinary interactions, this paper gives a descriptive overview of the ways Dutch interactants formulate their utterances to make them recognizable as doing questioning and the options they rely on to respond to these questions. I describe the formal options for formulating questions and responses in Dutch and the range of social actions (e.g. requests for information, requests for confirmation) that are implemented through questions in the corpus. Finally, I focus on answer design and discuss some of the coherence relations between questions, answers, and social actions. Questions that are asked to elicit information are associated with the more prototypical, lexico-morpho-syntactically defined question type such as polar interrogatives and, mainly, content questions. Most polar questions with declarative syntax are not primarily concerned with obtaining information but with doing other kinds of social actions
  • Erard, M. (2009). How Many Languages? Linguists Discover New Tongues in China. Science, 324(5925), 332-333. doi:10.1126/science.324.5925.332a.
  • Erard, M. (2015). What's in a name? Science, 347(6225), 941-943. doi:10.1126/science.347.6225.941.
  • Ernestus, M., & Baayen, R. H. (2003). Predicting the unpredictable: The phonological interpretation of neutralized segments in Dutch. Language, 79(1), 5-38.

    Abstract

    Among the most fascinating data for phonology are those showing how speakers incorporate new words and foreign words into their language system, since these data provide cues to the actual principles underlying language. In this article, we address how speakers deal with neutralized obstruents in new words. We formulate four hypotheses and test them on the basis of Dutch word-final obstruents, which are neutral for [voice]. Our experiments show that speakers predict the characteristics ofneutralized segments on the basis ofphonologically similar morphemes stored in the mental lexicon. This effect of the similar morphemes can be modeled in several ways. We compare five models, among them STOCHASTIC OPTIMALITY THEORY and ANALOGICAL MODELING OF LANGUAGE; all perform approximately equally well, but they differ in their complexity, with analogical modeling oflanguage providing the most economical explanation.
  • Ernestus, M., & Cutler, A. (2015). BALDEY: A database of auditory lexical decisions. Quarterly Journal of Experimental Psychology, 68, 1469-1488. doi:10.1080/17470218.2014.984730.

    Abstract

    In an auditory lexical decision experiment, 5,541 spoken content words and pseudo-words were presented to 20 native speakers of Dutch. The words vary in phonological makeup and in number of syllables and stress pattern, and are further representative of the native Dutch vocabulary in that most are morphologically complex, comprising two stems or one stem plus derivational and inflectional suffixes, with inflections representing both regular and irregular paradigms; the pseudo-words were matched in these respects to the real words. The BALDEY data file includes response times and accuracy rates, with for each item morphological information plus phonological and acoustic information derived from automatic phonemic segmentation of the stimuli. Two initial analyses illustrate how this data set can be used. First, we discuss several measures of the point at which a word has no further neighbors, and compare the degree to which each measure predicts our lexical decision response outcomes. Second, we investigate how well four different measures of frequency of occurrence (from written corpora, spoken corpora, subtitles and frequency ratings by 70 participants) predict the same outcomes. These analyses motivate general conclusions about the auditory lexical decision task. The (publicly available) BALDEY database lends itself to many further analyses.
  • Ernestus, M. (2014). Acoustic reduction and the roles of abstractions and exemplars in speech processing. Lingua, 142, 27-41. doi:10.1016/j.lingua.2012.12.006.

    Abstract

    Acoustic reduction refers to the frequent phenomenon in conversational speech that words are produced with fewer or lenited segments compared to their citation forms. The few published studies on the production and comprehension of acoustic reduction have important implications for the debate on the relevance of abstractions and exemplars in speech processing. This article discusses these implications. It first briefly introduces the key assumptions of simple abstractionist and simple exemplar-based models. It then discusses the literature on acoustic reduction and draws the conclusion that both types of models need to be extended to explain all findings. The ultimate model should allow for the storage of different pronunciation variants, but also reserve an important role for phonetic implementation. Furthermore, the recognition of a highly reduced pronunciation variant requires top down information and leads to activation of the corresponding unreduced variant, the variant that reaches listeners’ consciousness. These findings are best accounted for in hybrids models, assuming both abstract representations and exemplars. None of the hybrid models formulated so far can account for all data on reduced speech and we need further research for obtaining detailed insight into how speakers produce and listeners comprehend reduced speech.
  • Ernestus, M., & Mak, W. M. (2004). Distinctive phonological features differ in relevance for both spoken and written word recognition. Brain and Language, 90(1-3), 378-392. doi:10.1016/S0093-934X(03)00449-8.

    Abstract

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

    Abstract

    This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.
  • Ernestus, M., & Baayen, R. H. (2004). Kuchde, tobte, en turfte: Lekkage in 't kofschip. Onze Taal, 73(12), 360-361.
  • Ernestus, M., Hanique, I., & Verboom, E. (2015). The effect of speech situation on the occurrence of reduced word pronunciation variants. Journal of Phonetics, 48, 60-75. doi:10.1016/j.wocn.2014.08.001.

    Abstract

    This article presents two studies investigating how the situation in which speech is uttered affects the frequency with which words are reduced. Study 1 is based on the Spoken Dutch Corpus, which consists of 15 components, nearly all representing a different speech situation. This study shows that the components differ in how often ten semantically weak words are highly reduced. The differences are especially large between the components with scripted and unscripted speech. Within the component group of unscripted speech, the formality of the situation shows an effect. Study 2 investigated segment reduction in a shadowing experiment in which participants repeated Dutch carefully and casually articulated sentences. Prefixal schwa and suffixal /t/ were absent in participants' responses to both sentences types as often as in formal interviews. If a segment was absent, this appeared to be mostly due to extreme co-articulation, unlike in speech produced in less formal situations. Speakers thus adapted more to the formal situation of the experiment than to the stimuli to be shadowed. We conclude that speech situation affects the occurrence of reduced word pronunciation variants, which should be accounted for by psycholinguistic models of speech production and comprehension
  • Eschenko, O., Canals, S., Simanova, I., & Logothetis, N. K. (2010). Behavioral, electrophysiological and histopathological consequences of systemic manganese administration in MEMRI. Magnetic Resonance Imaging, 28, 1165-1174. doi:10.1016/j.mri.2009.12.022.

    Abstract

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

    Abstract

    Magnetic resonance imaging (MRI) is widely used in basic and clinical research to map the structural and functional organization of the brain. An important need of MR research is for contrast agents that improve soft-tissue contrast, enable visualization of neuronal tracks, and enhance the capacity of MRI to provide functional information at different temporal scales. Unchelated manganese can be such an agent, and manganese-enhanced MRI (MEMRI) can potentially be an excellent technique for localization of brain activity (for review see Silva et al., 2004). Yet, the toxicity of manganese presents a major limitation for employing MEMRI in behavioral paradigms. We have tested systematically the voluntary wheel running behavior of rats after systemic application of MnCl2 in a dose range of 16–80 mg/kg, which is commonly used in MEMRI studies. The results show a robust dose-dependent decrease in motor performance, which was accompanied by weight loss and decrease in food intake. The adverse effects lasted for up to 7 post-injection days. The lowest dose of MnCl2 (16 mg/kg) produced minimal adverse effects, but was not sufficient for functional mapping. We have therefore evaluated an alternative method of manganese delivery via osmotic pumps, which provide a continuous and slow release of manganese. In contrast to a single systemic injection, the pump method did not produce any adverse locomotor effects, while achieving a cumulative concentration of manganese (80 mg/kg) sufficient for functional mapping. Thus, MEMRI with such an optimized manganese delivery that avoids toxic effects can be safely applied for longitudinal studies in behaving animals.
  • Evans, N., & Levinson, S. C. (2009). The myth of language universals: Language diversity and its importance for cognitive science. Behavioral and Brain Sciences, 32(5), 429-492. doi:10.1017/S0140525X0999094X.

    Abstract

    Talk of linguistic universals has given cognitive scientists the impression that languages are all built to a common pattern. In fact, there are vanishingly few universals of language in the direct sense that all languages exhibit them. Instead, diversity can be found at almost every level of linguistic organization. This fundamentally changes the object of enquiry from a cognitive science perspective. This target article summarizes decades of cross-linguistic work by typologists and descriptive linguists, showing just how few and unprofound the universal characteristics of language are, once we honestly confront the diversity offered to us by the world's 6,000 to 8,000 languages. After surveying the various uses of “universal,” we illustrate the ways languages vary radically in sound, meaning, and syntactic organization, and then we examine in more detail the core grammatical machinery of recursion, constituency, and grammatical relations. Although there are significant recurrent patterns in organization, these are better explained as stable engineering solutions satisfying multiple design constraints, reflecting both cultural-historical factors and the constraints of human cognition.
  • Evans, S., McGettigan, C., Agnew, Z., Rosen, S., Cesar, L., Boebinger, D., Ostarek, M., Chen, S. H., Richards, A., Meekins, S., & Scott, S. K. (2014). The neural basis of informational and energetic masking effects in the perception and production of speech [abstract]. The Journal of the Acoustical Society of America, 136(4), 2243. doi:10.1121/1.4900096.

    Abstract

    When we have spoken conversations, it is usually in the context of competing sounds within our environment. Speech can be masked by many different kinds of sounds, for example, machinery noise and the speech of others, and these different sounds place differing demands on cognitive resources. In this talk, I will present data from a series of functional magnetic resonance imaging (fMRI) studies in which the informational properties of background sounds have been manipulated to make them more or less similar to speech. I will demonstrate the neural effects associated with speaking over and listening to these sounds, and demonstrate how in perception these effects are modulated by the age of the listener. The results will be interpreted within a framework of auditory processing developed from primate neurophysiology and human functional imaging work (Rauschecker and Scott 2009).
  • Evans, N., & Levinson, S. C. (2009). With diversity in mind: Freeing the language sciences from universal grammar [Author's response]. Behavioral and Brain Sciences, 32(5), 472-484. doi:10.1017/S0140525X09990525.

    Abstract

    Our response takes advantage of the wide-ranging commentary to clarify some aspects of our original proposal and augment others. We argue against the generative critics of our coevolutionary program for the language sciences, defend the use of close-to-surface models as minimizing crosslinguistic data distortion, and stress the growing role of stochastic simulations in making generalized historical accounts testable. These methods lead the search for general principles away from idealized representations and towards selective processes. Putting cultural evolution central in understanding language diversity makes learning fundamental in the cognition of language: increasingly powerful models of general learning, paired with channelled caregiver input, seem set to manage language acquisition without recourse to any innate “universal grammar.” Understanding why human language has no clear parallels in the animal world requires a cross-species perspective: crucial ingredients are vocal learning (for which there are clear non-primate parallels) and an intentionattributing cognitive infrastructure that provides a universal base for language evolution. We conclude by situating linguistic diversity within a broader trend towards understanding human cognition through the study of variation in, for example, human genetics, neurocognition, and psycholinguistic processing.
  • Everett, D., & Majid, A. (2009). Adventures in the jungle of language. [Interview by Asifa Majid and Jon Sutton.]. The Psychologist, 22(4), 312-313. Retrieved from http://www.thepsychologist.org.uk/archive/archive_home.cfm?volumeID=22&editionID=174&ArticleID=1494.

    Abstract

    Daniel Everett has spent his career in the Amazon, challenging some fundamental ideas about language and thought. Asifa Majid and Jon Sutton pose the questions
  • Everett, C., Blasi, D. E., & Roberts, S. G. (2015). Climate, vocal folds, and tonal languages: Connecting the physiological and geographic dots. Proceedings of the National Academy of Sciences of the United States of America, 112, 1322-1327. doi:10.1073/pnas.1417413112.

    Abstract

    We summarize a number of findings in laryngology demonstrating that perturbations of phonation, including increased jitter and shimmer, are associated with desiccated ambient air. We predict that, given the relative imprecision of vocal fold vibration in desiccated versus humid contexts, arid and cold ecologies should be less amenable, when contrasted to warm and humid ecologies, to the development of languages with phonemic tone, especially complex tone. This prediction is supported by data from two large independently coded databases representing 3,700+ languages. Languages with complex tonality have generally not developed in very cold or otherwise desiccated climates, in accordance with the physiologically based predictions. The predicted global geographic–linguistic association is shown to operate within continents, within major language families, and across language isolates. Our results offer evidence that human sound systems are influenced by environmental factors.
  • Favier, S., Wright, A., Meyer, A. S., & Huettig, F. (2019). Proficiency modulates between- but not within-language structural priming. Journal of Cultural Cognitive Science, 3(suppl. 1), 105-124. doi:10.1007/s41809-019-00029-1.

    Abstract

    The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.
  • Fawcett, C. A., & Markson, L. (2010). Children reason about shared preferences. Developmental Psychology, 46, 299-309. doi:10.1037/a0018539.

    Abstract

    Two-year-old children’s reasoning about the relation between their own and others’ preferences was investigated across two studies. In Experiment 1, children first observed 2 actors display their individual preferences for various toys. Children were then asked to make inferences about new, visually inaccessible toys and books that were described as being the favorite of each actor, unfamiliar to each actor, or disliked by each actor. Children tended to select the favorite toys and books from the actor who shared their own preference but chose randomly when the new items were unfamiliar to or disliked by the two actors. Experiment 2 extended these findings, showing that children do not generalize a shared preference across unrelated categories of items. Taken together, the results suggest that young children readily recognize when another person holds a preference similar to their own and use that knowledge appropriately to achieve desired outcomes.
  • Fawcett, C., & Markson, L. (2010). Similarity predicts liking in 3-year-old children. Journal of Experimental Child Psychology, 105, 345-358. doi:10.1016/j.jecp.2009.12.002.

    Abstract

    Two studies examined the influence of similarity on 3-year-old children’s initial liking of their peers. Children were presented with pairs of childlike puppets who were either similar or dissimilar to them on a specified dimension and then were asked to choose one of the puppets to play with as a measure of liking. Children selected the puppet whose food preferences or physical appearance matched their own. Unpacking the physical appearance finding revealed that the stable similarity of hair color may influence liking more strongly than the transient similarity of shirt color. A second study showed that children also prefer to play with a peer who shares their toy preferences, yet importantly, show no bias toward a peer who is similar on an arbitrary dimension. The findings provide insight into the earliest development of peer relations in young children.
  • Fedorenko, E., Patel, A., Casasanto, D., Winawer, J., & Gibson, E. (2009). Structural integration in language and music: Evidence for a shared system. Memory & Cognition, 37, 1-9. doi:10.3758/MC.37.1.1.

    Abstract

    In this study, we investigate whether language and music share cognitive resources for structural processing. We report an experiment that used sung materials and manipulated linguistic complexity (subject-extracted relative clauses, object-extracted relative clauses) and musical complexity (in-key critical note, out-of-key critical note, auditory anomaly on the critical note involving a loudness increase). The auditory-anomaly manipulation was included in order to test whether the difference between in-key and out-of-key conditions might be due to any salient, unexpected acoustic event. The critical dependent measure involved comprehension accuracies to questions about the propositional content of the sentences asked at the end of each trial. The results revealed an interaction between linguistic and musical complexity such that the difference between the subject- and object-extracted relative clause conditions was larger in the out-of-key condition than in the in-key and auditory-anomaly conditions. These results provide evidence for an overlap in structural processing between language and music.
  • Felker, E. R., Klockmann, H. E., & De Jong, N. H. (2019). How conceptualizing influences fluency in first and second language speech production. Applied Psycholinguistics, 40(1), 111-136. doi:10.1017/S0142716418000474.

    Abstract

    When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.
  • Felser, C., Roberts, L., Marinis, T., & Gross, R. (2003). The processing of ambiguous sentences by first and second language learners of English. Applied Psycholinguistics, 24(3), 453-489.

    Abstract

    This study investigates the way adult second language (L2) learners of English resolve relative clause attachment ambiguities in sentences such as The dean liked the secretary of the professor who was reading a letter. Two groups of advanced L2 learners of English with Greek or German as their first language participated in a set of off-line and on-line tasks. The results indicate that the L2 learners do not process ambiguous sentences of this type in the same way as adult native speakers of English do. Although the learners’ disambiguation preferences were influenced by lexical–semantic properties of the preposition linking the two potential antecedent noun phrases (of vs. with), there was no evidence that they applied any phrase structure–based ambiguity resolution strategies of the kind that have been claimed to influence sentence processing in monolingual adults. The L2 learners’ performance also differs markedly from the results obtained from 6- to 7-year-old monolingual English children in a parallel auditory study, in that the children’s attachment preferences were not affected by the type of preposition at all. We argue that children, monolingual adults, and adult L2 learners differ in the extent to which they are guided by phrase structure and lexical–semantic information during sentence processing.
  • Fenk, L. M., Heidlmayr, K., Lindner, P., & Schmid, A. (2010). Pupil Size in Spider Eyes Is Linked to Post-Ecdysal Lens Growth. PLoS One, 5(12): e15838. doi:10.1371/journal.pone.0015838.

    Abstract

    In this study we describe a distinctive pigment ring that appears in spider eyes after ecdysis and successively decreases in size in the days thereafter. Although pigment stops in spider eyes are well known, size variability is, to our knowledge, reported here for the first time. Representative species from three families (Ctenidae, Sparassidae and Lycosidae) are investigated and, for one of these species (Cupiennius salei, Ctenidae), the progressive increase in pupil diameter is monitored. In this species the pupil occupies only a fourth of the total projected lens surface after ecdysis and reaches its final size after approximately ten days. MicroCT images suggest that the decrease of the pigment ring is linked to the growth of the corneal lens after ecdysis. The pigment rings might improve vision in the immature eye by shielding light rays that would otherwise enter the eye via peripheral regions of the cornea, beside the growing crystalline lens.
  • Fields, E. C., Weber, K., Stillerman, B., Delaney-Busch, N., & Kuperberg, G. (2019). Functional MRI reveals evidence of a self-positivity bias in the medial prefrontal cortex during the comprehension of social vignettes. Social Cognitive and Affective Neuroscience, 14(6), 613-621. doi:10.1093/scan/nsz035.

    Abstract

    A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

    Additional information

    Supplementary data
  • Filippi, P., Gingras, B., & Fitch, W. T. (2014). Pitch enhancement facilitates word learning across visual contexts. Frontiers in Psychology, 5: 1468. doi:10.3389%2Ffpsyg.2014.01468.

    Abstract

    This study investigates word-learning using a new experimental paradigm that integrates three processes: (a) extracting a word out of a continuous sound sequence, (b) inferring its referential meanings in context, (c) mapping the segmented word onto its broader intended referent, such as other objects of the same semantic category, and to novel utterances. Previous work has examined the role of statistical learning and/or of prosody in each of these processes separately. Here, we combine these strands of investigation into a single experimental approach, in which participants viewed a photograph belonging to one of three semantic categories while hearing a complex, five-word utterance containing a target word. Six between-subjects conditions were tested with 20 adult participants each. In condition 1, the only cue to word-meaning mapping was the co-occurrence of word and referents. This statistical cue was present in all conditions. In condition 2, the target word was sounded at a higher pitch. In condition 3, random words were sounded at a higher pitch, creating an inconsistent cue. In condition 4, the duration of the target word was lengthened. In conditions 5 and 6, an extraneous acoustic cue and a visual cue were associated with the target word, respectively. Performance in this word-learning task was significantly higher than that observed with simple co-occurrence only when pitch prominence consistently marked the target word. We discuss implications for the pragmatic value of pitch marking as well as the relevance of our findings to language acquisition and language evolution.
  • Fisher, S. E., & Tilot, A. K. (2019). Bridging senses: Novel insights from synaesthesia. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 374: 20190022. doi:10.1098/rstb.2019.0022.
  • Fisher, S. E., & Tilot, A. K. (Eds.). (2019). Bridging senses: Novel insights from synaesthesia [Special Issue]. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 374.
  • Fisher, S. E., Lai, C. S., & Monaco, a. A. P. (2003). Deciphering the genetic basis of speech and language disorders. Annual Review of Neuroscience, 26, 57-80. doi:10.1146/annurev.neuro.26.041002.131144.

    Abstract

    A significant number of individuals have unexplained difficulties with acquiring normal speech and language, despite adequate intelligence and environmental stimulation. Although developmental disorders of speech and language are heritable, the genetic basis is likely to involve several, possibly many, different risk factors. Investigations of a unique three-generation family showing monogenic inheritance of speech and language deficits led to the isolation of the first such gene on chromosome 7, which encodes a transcription factor known as FOXP2. Disruption of this gene causes a rare severe speech and language disorder but does not appear to be involved in more common forms of language impairment. Recent genome-wide scans have identified at least four chromosomal regions that may harbor genes influencing the latter, on chromosomes 2, 13, 16, and 19. The molecular genetic approach has potential for dissecting neurological pathways underlying speech and language disorders, but such investigations are only just beginning.
  • Fisher, S. E., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language [Review article]. Trends in Genetics, 25, 166-177. doi:10.1016/j.tig.2009.03.002.

    Abstract

    Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expression in different vertebrates facilitates the use of animal models to study ancestral pathways that have been recruited towards human speech and language. Intriguingly, reduced FoxP2 dosage yields abnormal synaptic plasticity and impaired motor-skill learning in mice, and disrupts vocal learning in songbirds. Converging data indicate that Foxp2 is important for modulating the plasticity of relevant neural circuits. This body of research represents the first functional genetic forays into neural mechanisms contributing to human spoken language.
  • Fisher, S. E. (2010). Genetic susceptibility to stuttering [Editorial]. New England Journal of Medicine, 362, 750-752. doi:10.1056/NEJMe0912594.
  • Fisher, S. E., & Vernes, S. C. (2015). Genetics and the Language Sciences. Annual Review of Linguistics, 1, 289-310. doi:10.1146/annurev-linguist-030514-125024.

    Abstract

    Theories addressing the biological basis of language must be built on
    an appreciation of the ways that molecular and neurobiological substrates
    can contribute to aspects of human cognition. Here, we lay out
    the principles by which a genome could potentially encode the necessary
    information to produce a language-ready brain. We describe
    what genes are; how they are regulated; and how they affect the formation,
    function, and plasticity of neuronal circuits. At each step,
    we give examples of molecules implicated in pathways that are important
    for speech and language. Finally, we discuss technological advances
    in genomics that are revealing considerable genotypic variation in
    the human population, from rare mutations to common polymorphisms,
    with the potential to relate this variation to natural variability
    in speech and language skills. Moving forward, an interdisciplinary
    approach to the language sciences, integrating genetics, neurobiology,
    psychology, and linguistics, will be essential for a complete understanding
    of our unique human capacities.
  • Fisher, S. E. (2019). Human genetics: The evolving story of FOXP2. Current Biology, 29(2), R65-R67. doi:10.1016/j.cub.2018.11.047.

    Abstract

    FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.
  • Fisher, S. E., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P., & Pembrey, M. E. (1998). Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics, 18, 168 -170. doi:10.1038/ng0298-168.

    Abstract

    Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.
  • Fitz, H., & Chang, F. (2019). Language ERPs reflect learning through prediction error propagation. Cognitive Psychology, 111, 15-52. doi:10.1016/j.cogpsych.2019.03.002.

    Abstract

    Event-related potentials (ERPs) provide a window into how the brain is processing language. Here, we propose a theory that argues that ERPs such as the N400 and P600 arise as side effects of an error-based learning mechanism that explains linguistic adaptation and language learning. We instantiated this theory in a connectionist model that can simulate data from three studies on the N400 (amplitude modulation by expectancy, contextual constraint, and sentence position), five studies on the P600 (agreement, tense, word category, subcategorization and garden-path sentences), and a study on the semantic P600 in role reversal anomalies. Since ERPs are learning signals, this account explains adaptation of ERP amplitude to within-experiment frequency manipulations and the way ERP effects are shaped by word predictability in earlier sentences. Moreover, it predicts that ERPs can change over language development. The model provides an account of the sensitivity of ERPs to expectation mismatch, the relative timing of the N400 and P600, the semantic nature of the N400, the syntactic nature of the P600, and the fact that ERPs can change with experience. This approach suggests that comprehension ERPs are related to sentence production and language acquisition mechanisms
  • FitzPatrick, I., & Indefrey, P. (2014). Head start for target language in bilingual listening. Brain Research, 1542, 111-130. doi:10.1016/j.brainres.2013.10.014.

    Abstract

    In this study we investigated the availability of non-target language semantic features in bilingual speech processing. We recorded EEG from Dutch-English bilinguals who listened to spoken sentences in their L2 (English) or L1 (Dutch). In Experiments 1 and 3 the sentences contained an interlingual homophone. The sentence context was either biased towards the target language meaning of the homophone (target biased), the non-target language meaning (non-target biased), or neither meaning of the homophone (fully incongruent). These conditions were each compared to a semantically congruent control condition. In L2 sentences we observed an N400 in the non-target biased condition that had an earlier offset than the N400 to fully incongruent homophones. In the target biased condition, a negativity emerged that was later than the N400 to fully incongruent homophones. In L1 contexts, neither target biased nor non-target biased homophones yielded significant N400 effects (compared to the control condition). In Experiments 2 and 4 the sentences contained a language switch to a non-target language word that could be semantically congruent or incongruent. Semantically incongruent words (switched, and non-switched) elicited an N400 effect. The N400 to semantically congruent language-switched words had an earlier offset than the N400 to incongruent words. Both congruent and incongruent language switches elicited a Late Positive Component (LPC). These findings show that bilinguals activate both meanings of interlingual homophones irrespective of their contextual fit. In L2 contexts, the target-language meaning of the homophone has a head start over the non-target language meaning. The target-language head start is also evident for language switches from both L2-to-L1 and L1-to-L2
  • FitzPatrick, I., & Indefrey, P. (2010). Lexical competition in nonnative speech comprehension. Journal of Cognitive Neuroscience, 22, 1165-1178. doi:10.1162/jocn.2009.21301.

    Abstract

    Electrophysiological studies consistently find N400 effects of semantic incongruity in nonnative (L2) language comprehension. These N400 effects are often delayed compared with native (L1) comprehension, suggesting that semantic integration in one's second language occurs later than in one's first language. In this study, we investigated whether such a delay could be attributed to (1) intralingual lexical competition and/or (2) interlingual lexical competition. We recorded EEG from Dutch–English bilinguals who listened to English (L2) sentences in which the sentence-final word was (a) semantically fitting and (b) semantically incongruent or semantically incongruent but initially congruent due to sharing initial phonemes with (c) the most probable sentence completion within the L2 or (d) the L1 translation equivalent of the most probable sentence completion. We found an N400 effect in each of the semantically incongruent conditions. This N400 effect was significantly delayed to L2 words but not to L1 translation equivalents that were initially congruent with the sentence context. Taken together, these findings firstly demonstrate that semantic integration in nonnative listening can start based on word initial phonemes (i.e., before a single lexical candidate could have been selected based on the input) and secondly suggest that spuriously elicited L1 lexical candidates are not available for semantic integration in L2 speech comprehension.
  • Flecken, M., Carroll, M., Weimar, K., & Von Stutterheim, C. (2015). Driving along the road or heading for the village? Conceptual differences underlying motion event encoding in French, German, and French-German L2 users. Modern Language Journal, 99(S1), 100-122. doi:10.1111/j.1540-4781.2015.12181.x.

    Abstract

    The typological contrast between verb- and satellite-framed languages (Talmy, 1985) has set the basis for many empirical studies on L2 acquisition. The current analysis goes beyond this typology by looking in detail at the conceptualization of the path of motion in a motion event. We take as a starting point the cognitive salience of specific elements of motion events that are relevant when conceptualizing space. When expressing direction in French, specific spatial relations involving the entity in motion (its alignment and its distance toward a [potential] endpoint) are relevant, given a variety of path verbs in the lexicon expressing this information (e.g., se diriger vers, avancer to direct oneself toward,' to advance'). This is not the case in German (manner verbs in the lexicon mainly). In German, spatial information is packaged in adjuncts and particles and the path of motion is typically structured via features of the ground (entlanglaufen/fahren to walk/drive along') or endpoints (to walk/drive to/toward'). We investigate those fundamental differences in spatial conceptualization in French and German, as reflected in pre-articulatory patterns of attention allocation (measured with eye tracking) to moving entities and endpoints in motion scenes in an event description task. Our focus is on spatial conceptualization in an L2 (French L2 users of German), analyzing the extent to which these L2 users display target-like patterns or traces of L1 conceptualization transfer. Findings show that, in line with directional concepts expressed in verbs, L1 French speakers allocate more attention to entities in motion and endpoints, before utterance onset, than L1 German speakers do. The L2 German speakers pattern with L1 German speakers in the use of manner verbs, but they have not fully acquired the spatial concepts and means that structure the path of motion in the L2. This is reflected in pre-articulatory attention allocation patterns, according to which the L2 speakers pattern with native speakers of their L1 (French). The findings show a continued deep entrenchment of L1-based processing patterns and spatial frames of reference when speakers prepare for speech in an L2
  • Flecken, M., Gerwien, J., Carroll, M., & von Stutterheim, C. (2015). Analyzing gaze allocation during language planning: A cross-linguistic study on dynamic events. Language and Cognition, 7(1), 138-166. doi:10.1017/langcog.2014.20.

    Abstract

    Studies on gaze allocation during sentence production have recently begun to implement cross-linguistic analyses in the investigation of visual and linguistic processing. The underlying assumption is that the aspects of a scene that attract attention prior to articulation are, in part, linked to the specifi c linguistic system and means used for expression. The present study concerns naturalistic, dynamic scenes (video clips) showing causative events (agent acting on an object) and exploits grammatical diff erences in the domain of verbal aspect, and the way in which the status of an event (a specifi c vs. habitual instance of an event) is encoded in English and German. Fixations in agent and action areas of interest were timelocked to utterance onset, and we focused on the pre-articulatory time span to shed light on sentence planning processes, involving message generation and scene conceptualization.
  • Flecken, M., Walbert, K., & Dijkstra, T. (2015). ‘Right now, Sophie ∗swims in the pool?!’: Brain potentials of grammatical aspect processing. Frontiers in Psychology, 6: 1764. doi:10.3389/fpsyg.2015.01764.

    Abstract

    We investigated whether brain potentials of grammatical aspect processing resemble semantic or morpho-syntactic processing, or whether they instead are characterized by an entirely distinct pattern in the same individuals. We studied aspect from the perspective of agreement between the temporal information in the context (temporal adverbials, e.g., Right now) and a morpho-syntactic marker of grammatical aspect (e.g., progressive is swimming). Participants read questions providing a temporal context that was progressive (What is Sophie doing in the pool right now?) or habitual (What does Sophie do in the pool every Monday?). Following a lead-in sentence context such as Right now, Sophie…, we measured event-related brain potentials (ERPs) time-locked to verb phrases in four different conditions, e.g., (a) is swimming (control); (b) ∗is cooking (semantic violation); (c) ∗are swimming (morpho-syntactic violation); or (d)?swims (aspect mismatch); …in the pool.” The collected ERPs show typical N400 and P600 effects for semantics and morpho-syntax, while aspect processing elicited an Early Negativity (250–350 ms). The aspect-related Negativity was short-lived and had a central scalp distribution with an anterior onset. This differentiates it not only from the semantic N400 effect, but also from the typical LAN (Left Anterior Negativity), that is frequently reported for various types of agreement processing. Moreover, aspect processing did not show a clear P600 modulation. We argue that the specific context for each item in this experiment provided a trigger for agreement checking with temporal information encoded on the verb, i.e., morphological aspect marking. The aspect-related Negativity obtained for aspect agreement mismatches reflects a violated expectation concerning verbal inflection (in the example above, the expected verb phrase was Sophie is X-ing rather than Sophie X-s in condition d). The absence of an additional P600 for aspect processing suggests that the mismatch did not require additional reintegration or processing costs. This is consistent with participants’ post hoc grammaticality judgements of the same sentences, which overall show a high acceptability of aspect mismatch sentences.

    Additional information

    data sheet 1.docx
  • Flecken, M., von Stutterheim, C., & Carroll, M. (2014). Grammatical aspect influences motion event perception: Evidence from a cross-linguistic non-verbal recognition task. Language and Cognition, 6(1), 45-78. doi:10.1017/langcog.2013.2.

    Abstract

    Using eye-tracking as a window on cognitive processing, this study investigates language effects on attention to motion events in a non-verbal task. We compare gaze allocation patterns by native speakers of German and Modern Standard Arabic (MSA), two languages that differ with regard to the grammaticalization of temporal concepts. Findings of the non-verbal task, in which speakers watch dynamic event scenes while performing an auditory distracter task, are compared to gaze allocation patterns which were obtained in an event description task, using the same stimuli. We investigate whether differences in the grammatical aspectual systems of German and MSA affect the extent to which endpoints of motion events are linguistically encoded and visually processed in the two tasks. In the linguistic task, we find clear language differences in endpoint encoding and in the eye-tracking data (attention to event endpoints) as well: German speakers attend to and linguistically encode endpoints more frequently than speakers of MSA. The fixation data in the non-verbal task show similar language effects, providing relevant insights with regard to the language-and-thought debate. The present study is one of the few studies that focus explicitly on language effects related to grammatical concepts, as opposed to lexical concepts.
  • Flecken, M., Athanasopoulos, P., Kuipers, J. R., & Thierry, G. (2015). On the road to somewhere: Brain potentials reflect language effects on motion event perception. Cognition, 141, 41-51. doi:10.1016/j.cognition.2015.04.006.

    Abstract

    Recent studies have identified neural correlates of language effects on perception in static domains of experience such as colour and objects. The generalization of such effects to dynamic domains like motion events remains elusive. Here, we focus on grammatical differences between languages relevant for the description of motion events and their impact on visual scene perception. Two groups of native speakers of German or English were presented with animated videos featuring a dot travelling along a trajectory towards a geometrical shape (endpoint). English is a language with grammatical aspect in which attention is drawn to trajectory and endpoint of motion events equally. German, in contrast, is a non-aspect language which highlights endpoints. We tested the comparative perceptual saliency of trajectory and endpoint of motion events by presenting motion event animations (primes) followed by a picture symbolising the event (target): In 75% of trials, the animation was followed by a mismatching picture (both trajectory and endpoint were different); in 10% of trials, only the trajectory depicted in the picture matched the prime; in 10% of trials, only the endpoint matched the prime; and in 5% of trials both trajectory and endpoint were matching, which was the condition requiring a response from the participant. In Experiment 1 we recorded event-related brain potentials elicited by the picture in native speakers of German and native speakers of English. German participants exhibited a larger P3 wave in the endpoint match than the trajectory match condition, whereas English speakers showed no P3 amplitude difference between conditions. In Experiment 2 participants performed a behavioural motion matching task using the same stimuli as those used in Experiment 1. German and English participants did not differ in response times showing that motion event verbalisation cannot readily account for the difference in P3 amplitude found in the first experiment. We argue that, even in a non-verbal context, the grammatical properties of the native language and associated sentence-level patterns of event encoding influence motion event perception, such that attention is automatically drawn towards aspects highlighted by the grammar.
  • Floyd, S. (2014). [Review of the book Flexible word classes: Typological studies of underspecified parts of speech ed. by Jan Rijkhoff and Eva van Lier]. Linguistics, 52, 1499-1502. doi:10.1515/ling-2014-0027.
  • Floyd, S. (2015). Other-initiated repair in Cha’palaa. Open linguistics, 1(1), 467-489. doi:10.1515/opli-2015-0014.

    Abstract

    This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversation in the Cha’palaa (a Barbacoan language spoken in north-western Ecuador). Special attention is given to the relation of repair formats to the morphosyntactic and intonational systems of the language. It examines the distinctive falling intonation observed with interjections and content question formats and the pattern of a held mid-high tone observed in polarity questions, as well as the function of Cha’palaa grammatical features such as the case marking system, the nominal classifiers and the verb classification system as formats for repair initiation. It considers a selection of examples from a video corpus to illustrate a broad range of sequence types of opened and restricted other-initiated repair, noting that Cha’palaa had the highest relative rate of open repair in the cross-linguistic sample. It also considers the extension of OIR to other practices such as news uptake and disagreement in the Cha’palaa corpus.
  • Floyd, S. (2015). Transparência semântica e o ‘calque’ cultural no noroeste amazônico [Portuguese transl. of Semantic transparency and cultural calquing in the Northwest Amazon, 2013]. Wamon: Revista dos alunos do PpGas/UFAM, 1(1), 95-117. Retrieved from http://www.periodicos.ufam.edu.br/index.php/wamon/article/view/946.

    Abstract

    The ethnographic literature has described the northwest Amazon as an area of shared culture across linguistic groups. This paper illustrates how a principle of semantic transparency across languages is a key means of establishing elements of a common regional culture through practices like the calquing of ethnonyms and toponyms so that they are semantically, but not phonologically, equivalent across languages. It places the northwest Amazon in a general discussion of cross-linguistic naming practices in South America and considers the extent to which a preference for semantic transparency can be linked to cases of widespread cultural “calquing”. It also addresses the principle of semantic transparency beyond specific referential phrases and into larger discourse structures. It concludes that an attention to semiotic practices in multilingual settings can provide new and more complex ways of thinking about the idea of shared culture
  • Folia, V., Uddén, J., De Vries, M., Forkstam, C., & Petersson, K. M. (2010). Artificial language learning in adults and children. Language learning, 60(s2), 188-220. doi:10.1111/j.1467-9922.2010.00606.x.

    Abstract

    This article briefly reviews some recent work on artificial language learning in children and adults. The final part of the article is devoted to a theoretical formulation of the language learning problem from a mechanistic neurobiological viewpoint and we show that it is logically possible to combine the notion of innate language constraints with, for example, the notion of domain general learning mechanisms. A growing body of empirical evidence suggests that the mechanisms involved in artificial language learning and in structured sequence processing are shared with those of natural language acquisition and natural language processing. Finally, by theoretically analyzing a formal learning model, we highlight Fodor’s insight that it is logically possible to combine innate, domain-specific constraints with domain-general learning mechanisms.
  • Folia, V., & Petersson, K. M. (2014). Implicit structured sequence learning: An fMRI study of the structural mere-exposure effect. Frontiers in Psychology, 5: 41. doi:10.3389/fpsyg.2014.00041.

    Abstract

    In this event-related FMRI study we investigated the effect of five days of implicit acquisition on preference classification by means of an artificial grammar learning (AGL) paradigm based on the structural mere-exposure effect and preference classification using a simple right-linear unification grammar. This allowed us to investigate implicit AGL in a proper learning design by including baseline measurements prior to grammar exposure. After 5 days of implicit acquisition, the FMRI results showed activations in a network of brain regions including the inferior frontal (centered on BA 44/45) and the medial prefrontal regions (centered on BA 8/32). Importantly, and central to this study, the inclusion of a naive preference FMRI baseline measurement allowed us to conclude that these FMRI findings were the intrinsic outcomes of the learning process itself and not a reflection of a preexisting functionality recruited during classification, independent of acquisition. Support for the implicit nature of the knowledge utilized during preference classification on day 5 come from the fact that the basal ganglia, associated with implicit procedural learning, were activated during classification, while the medial temporal lobe system, associated with explicit declarative memory, was consistently deactivated. Thus, preference classification in combination with structural mere-exposure can be used to investigate structural sequence processing (syntax) in unsupervised AGL paradigms with proper learning designs.
  • Forkel, S. J., Thiebaut de Schotten, M., Dell’Acqua, F., Kalra, L., Murphy, D. G. M., Williams, S. C. R., & Catani, M. (2014). Anatomical predictors of aphasia recovery: a tractography study of bilateral perisylvian language networks. Brain, 137, 2027-2039. doi:10.1093/brain/awu113.

    Abstract

    Stroke-induced aphasia is associated with adverse effects on quality of life and the ability to return to work. For patients and clinicians the possibility of relying on valid predictors of recovery is an important asset in the clinical management of stroke-related impairment. Age, level of education, type and severity of initial symptoms are established predictors of recovery. However, anatomical predictors are still poorly understood. In this prospective longitudinal study, we intended to assess anatomical predictors of recovery derived from diffusion tractography of the perisylvian language networks. Our study focused on the arcuate fasciculus, a language pathway composed of three segments connecting Wernicke’s to Broca’s region (i.e. long segment), Wernicke’s to Geschwind’s region (i.e. posterior segment) and Broca’s to Geschwind’s region (i.e. anterior segment). In our study we were particularly interested in understanding how lateralization of the arcuate fasciculus impacts on severity of symptoms and their recovery. Sixteen patients (10 males; mean age 60 ± 17 years, range 28–87 years) underwent post stroke language assessment with the Revised Western Aphasia Battery and neuroimaging scanning within a fortnight from symptoms onset. Language assessment was repeated at 6 months. Backward elimination analysis identified a subset of predictor variables (age, sex, lesion size) to be introduced to further regression analyses. A hierarchical regression was conducted with the longitudinal aphasia severity as the dependent variable. The first model included the subset of variables as previously defined. The second model additionally introduced the left and right arcuate fasciculus (separate analysis for each segment). Lesion size was identified as the only independent predictor of longitudinal aphasia severity in the left hemisphere [beta = −0.630, t(−3.129), P = 0.011]. For the right hemisphere, age [beta = −0.678, t(–3.087), P = 0.010] and volume of the long segment of the arcuate fasciculus [beta = 0.730, t(2.732), P = 0.020] were predictors of longitudinal aphasia severity. Adding the volume of the right long segment to the first-level model increased the overall predictive power of the model from 28% to 57% [F(1,11) = 7.46, P = 0.02]. These findings suggest that different predictors of recovery are at play in the left and right hemisphere. The right hemisphere language network seems to be important in aphasia recovery after left hemispheric stroke.

    Additional information

    supplementary information
  • Forkel, S. J. (2015). Heinrich Sachs (1863–1928). Journal of Neurology, 262, 498-500. doi:10.1007/s00415-014-7517-2.

    Abstract

    The nineteenth century witnessed some of the greatest neuroanatomists of all times. Amongst them is the largely forgotten Heinrich Sachs, a student of Carl Wernicke in Breslau.
  • Forkel, S. J., Thiebaut de Schotten, M., Kawadler, J. M., Dell'Acqua, F., Danek, A., & Catani, M. (2014). The anatomy of fronto-occipital connections from early blunt dissections to contemporary tractography. Cortex, 56, 73-84. doi:10.1016/j.cortex.2012.09.005.

    Abstract

    The occipital and frontal lobes are anatomically distant yet functionally highly integrated to generate some of the most complex behaviour. A series of long associative fibres, such as the fronto-occipital networks, mediate this integration via rapid feed-forward propagation of visual input to anterior frontal regions and direct top–down modulation of early visual processing.

    Despite the vast number of anatomical investigations a general consensus on the anatomy of fronto-occipital connections is not forthcoming. For example, in the monkey the existence of a human equivalent of the ‘inferior fronto-occipital fasciculus’ (iFOF) has not been demonstrated. Conversely, a ‘superior fronto-occipital fasciculus’ (sFOF), also referred to as ‘subcallosal bundle’ by some authors, is reported in monkey axonal tracing studies but not in human dissections.

    In this study our aim is twofold. First, we use diffusion tractography to delineate the in vivo anatomy of the sFOF and the iFOF in 30 healthy subjects and three acallosal brains. Second, we provide a comprehensive review of the post-mortem and neuroimaging studies of the fronto-occipital connections published over the last two centuries, together with the first integral translation of Onufrowicz's original description of a human fronto-occipital fasciculus (1887) and Muratoff's report of the ‘subcallosal bundle’ in animals (1893).

    Our tractography dissections suggest that in the human brain (i) the iFOF is a bilateral association pathway connecting ventro-medial occipital cortex to orbital and polar frontal cortex, (ii) the sFOF overlaps with branches of the superior longitudinal fasciculus (SLF) and probably represents an ‘occipital extension’ of the SLF, (iii) the subcallosal bundle of Muratoff is probably a complex tract encompassing ascending thalamo-frontal and descending fronto-caudate connections and is therefore a projection rather than an associative tract.

    In conclusion, our experimental findings and review of the literature suggest that a ventral pathway in humans, namely the iFOF, mediates a direct communication between occipital and frontal lobes. Whether the iFOF represents a unique human pathway awaits further ad hoc investigations in animals.
  • Forkel, S. J., Mahmood, S., Vergani, F., & Catani, M. (2015). The white matter of the human cerebrum: Part I The occipital lobe by Heinrich Sachs. Cortex, 62, 182-202. doi:10.1016/j.cortex.2014.10.023.

    Abstract

    This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work.
  • Fortunato, L., & Jordan, F. (2010). Your place or mine? A phylogenetic comparative analysis of marital residence in Indo-European and Austronesian societies. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 365(1559), 3913 -3922. doi:10.1098/rstb.2010.0017.

    Abstract

    Accurate reconstruction of prehistoric social organization is important if we are to put together satisfactory multidisciplinary scenarios about, for example, the dispersal of human groups. Such considerations apply in the case of Indo-European and Austronesian, two large-scale language families that are thought to represent Neolithic expansions. Ancestral kinship patterns have mostly been inferred through reconstruction of kin terminologies in ancestral proto-languages using the linguistic comparative method, and through geographical or distributional arguments based on the comparative patterns of kin terms and ethnographic kinship ‘facts’. While these approaches are detailed and valuable, the processes through which conclusions have been drawn from the data fail to provide explicit criteria for systematic testing of alternative hypotheses. Here, we use language trees derived using phylogenetic tree-building techniques on Indo-European and Austronesian vocabulary data. With these trees, ethnographic data and Bayesian phylogenetic comparative methods, we statistically reconstruct past marital residence and infer rates of cultural change between different residence forms, showing Proto-Indo-European to be virilocal and Proto-Malayo-Polynesian uxorilocal. The instability of uxorilocality and the rare loss of virilocality once gained emerge as common features of both families
  • Fournier, R., Gussenhoven, C., Jensen, O., & Hagoort, P. (2010). Lateralization of tonal and intonational pitch processing: An MEG study. Brain Research, 1328, 79-88. doi:10.1016/j.brainres.2010.02.053.

    Abstract

    An MEG experiment was carried out in order to compare the processing of lexical-tonal and intonational contrasts, based on the tonal dialect of Roermond (the Netherlands). A set of words with identical phoneme sequences but distinct pitch contours, which represented different lexical meanings or discourse meanings (statement vs. question), were presented to native speakers as well as to a control group of speakers of Standard Dutch, a non-tone language. The stimuli were arranged in a mismatch paradigm, under three experimental conditions: in the first condition (lexical), the pitch contour differences between standard and deviant stimuli reflected differences between lexical meanings; in the second condition (intonational), the stimuli differed in their discourse meaning; in the third condition (combined), they differed both in their lexical and discourse meaning. In all three conditions, native as well as non-native responses showed a clear MMNm (magnetic mismatch negativity) in a time window from 150 to 250 ms after the divergence point of standard and deviant pitch contours. In the lexical condition, a stronger response was found over the left temporal cortex of native as well as non-native speakers. In the intonational condition, the same activation pattern was observed in the control group, but not in the group of native speakers, who showed a right-hemisphere dominance instead. Finally, in the combined (lexical and intonational) condition, brain reactions appeared to represent the summation of the patterns found in the other two conditions. In sum, the lateralization of pitch processing is condition-dependent in the native group only, which suggests that language experience determines how processes should be distributed over both temporal cortices, according to the functions available in the grammar.
  • Francken, J. C., Meijs, E. L., Ridderinkhof, O. M., Hagoort, P., de Lange, F. P., & van Gaal, S. (2015). Manipulating word awareness dissociates feed-forward from feedback models of language-perception interactions. Neuroscience of consciousness, 1. doi:10.1093/nc/niv003.

    Abstract

    Previous studies suggest that linguistic material can modulate visual perception, but it is unclear at which level of processing these interactions occur. Here we aim to dissociate between two competing models of language–perception interactions: a feed-forward and a feedback model. We capitalized on the fact that the models make different predictions on the role of feedback. We presented unmasked (aware) or masked (unaware) words implying motion (e.g. “rise,” “fall”), directly preceding an upward or downward visual motion stimulus. Crucially, masking leaves intact feed-forward information processing from low- to high-level regions, whereas it abolishes subsequent feedback. Under this condition, participants remained faster and more accurate when the direction implied by the motion word was congruent with the direction of the visual motion stimulus. This suggests that language–perception interactions are driven by the feed-forward convergence of linguistic and perceptual information at higher-level conceptual and decision stages.
  • Francken, J. C., Meijs, E. L., Hagoort, P., van Gaal, S., & de Lange, F. P. (2015). Exploring the automaticity of language-perception interactions: Effects of attention and awareness. Scientific Reports, 5: 17725. doi:10.1038/srep17725.

    Abstract

    Previous studies have shown that language can modulate visual perception, by biasing and/
    or enhancing perceptual performance. However, it is still debated where in the brain visual and
    linguistic information are integrated, and whether the effects of language on perception are
    automatic and persist even in the absence of awareness of the linguistic material. Here, we aimed
    to explore the automaticity of language-perception interactions and the neural loci of these
    interactions in an fMRI study. Participants engaged in a visual motion discrimination task (upward
    or downward moving dots). Before each trial, a word prime was briefly presented that implied
    upward or downward motion (e.g., “rise”, “fall”). These word primes strongly influenced behavior:
    congruent motion words sped up reaction times and improved performance relative to incongruent
    motion words. Neural congruency effects were only observed in the left middle temporal gyrus,
    showing higher activity for congruent compared to incongruent conditions. This suggests that higherlevel
    conceptual areas rather than sensory areas are the locus of language-perception interactions.
    When motion words were rendered unaware by means of masking, they still affected visual motion
    perception, suggesting that language-perception interactions may rely on automatic feed-forward
    integration of perceptual and semantic material in language areas of the brain.
  • Francken, J. C., Kok, P., Hagoort, P., & De Lange, F. P. (2015). The behavioral and neural effects of language on motion perception. Journal of Cognitive Neuroscience, 27(1), 175-184. doi:10.1162/jocn_a_00682.

    Abstract

    Perception does not function as an isolated module but is tightly linked with other cognitive functions. Several studies have demonstrated an influence of language on motion perception, but it remains debated at which level of processing this modulation takes place. Some studies argue for an interaction in perceptual areas, but it is also possible that the interaction is mediated by "language areas" that integrate linguistic and visual information. Here, we investigated whether language-perception interactions were specific to the language-dominant left hemisphere by comparing the effects of language on visual material presented in the right (RVF) and left visual fields (LVF). Furthermore, we determined the neural locus of the interaction using fMRI. Participants performed a visual motion detection task. On each trial, the visual motion stimulus was presented in either the LVF or in the RVF, preceded by a centrally presented word (e.g., "rise"). The word could be congruent, incongruent, or neutral with regard to the direction of the visual motion stimulus that was presented subsequently. Participants were faster and more accurate when the direction implied by the motion word was congruent with the direction of the visual motion stimulus. Interestingly, the speed benefit was present only for motion stimuli that were presented in the RVF. We observed a neural counterpart of the behavioral facilitation effects in the left middle temporal gyrus, an area involved in semantic processing of verbal material. Together, our results suggest that semantic information about motion retrieved in language regions may automatically modulate perceptual decisions about motion.
  • Francks, C., DeLisi, L. E., Fisher, S. E., Laval, S. H., Rue, J. E., Stein, J. F., & Monaco, A. P. (2003). Confirmatory evidence for linkage of relative hand skill to 2p12-q11 [Letter to the editor]. American Journal of Human Genetics, 72(2), 499-502. doi:10.1086/367548.
  • Francks, C., Paracchini, S., Smith, S. D., Richardson, A. J., Scerri, T. S., Cardon, L. R., Marlow, A. J., MacPhie, I. L., Walter, J., Pennington, B. F., Fisher, S. E., Olson, R. K., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2004). A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. American Journal of Human Genetics, 75(6), 1046-1058. doi:10.1086/426404.

    Abstract

    Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319. The region of association is also directly upstream of a third gene, THEM2. We found evidence of these associations in a second sample of siblings from the United Kingdom, as well as in an independent sample of twin-based sibships from Colorado. One main RD risk haplotype that has a frequency of ∼12% was found in both the U.K. and U.S. samples. The haplotype is not distinguished by any protein-coding polymorphisms, and, therefore, the functional variation may relate to gene expression. The QTL influences a broad range of reading-related cognitive abilities but has no significant impact on general cognitive performance in these samples. In addition, the QTL effect may be largely limited to the severe range of reading disability.
  • Francks, C., Fisher, S. E., Marlow, A. J., MacPhie, I. L., Taylor, K. E., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2003). Familial and genetic effects on motor coordination, laterality, and reading-related cognition. American Journal of Psychiatry, 160(11), 1970-1977. doi:10.1176/appi.ajp.160.11.1970.

    Abstract

    OBJECTIVE: Recent research has provided evidence for a genetically mediated association between language or reading-related cognitive deficits and impaired motor coordination. Other studies have identified relationships between lateralization of hand skill and cognitive abilities. With a large sample, the authors aimed to investigate genetic relationships between measures of reading-related cognition, hand motor skill, and hand skill lateralization.

    METHOD: The authors applied univariate and bivariate correlation and familiality analyses to a range of measures. They also performed genomewide linkage analysis of hand motor skill in a subgroup of 195 sibling pairs.

    RESULTS: Hand motor skill was significantly familial (maximum heritability=41%), as were reading-related measures. Hand motor skill was weakly but significantly correlated with reading-related measures, such as nonword reading and irregular word reading. However, these correlations were not significantly familial in nature, and the authors did not observe linkage of hand motor skill to any chromosomal regions implicated in susceptibility to dyslexia. Lateralization of hand skill was not correlated with reading or cognitive ability.

    CONCLUSIONS: The authors confirmed a relationship between lower motor ability and poor reading performance. However, the genetic effects on motor skill and reading ability appeared to be largely or wholly distinct, suggesting that the correlation between these traits may have arisen from environmental influences. Finally, the authors found no evidence that reading disability and/or low general cognitive ability were associated with ambidexterity.
  • Francks, C. (2019). In search of the biological roots of typical and atypical human brain asymmetry. Physics of Life Reviews, 30, 22-24. doi:10.1016/j.plrev.2019.07.004.
  • Francks, C., DeLisi, L. E., Shaw, S. H., Fisher, S. E., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2003). Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11. Human Molecular Genetics, 12(24), 3225-3230. doi:10.1093/hmg/ddg362.

    Abstract

    Schizophrenia and non-right-handedness are moderately associated, and both traits are often accompanied by abnormalities of asymmetrical brain morphology or function. We have found linkage previously of chromosome 2p12-q11 to a quantitative measure of handedness, and we have also found linkage of schizophrenia/schizoaffective disorder to this same chromosomal region in a separate study. Now, we have found that in one of our samples (191 reading-disabled sibling pairs), the relative hand skill of siblings was correlated more strongly with paternal than maternal relative hand skill. This led us to re-analyse 2p12-q11 under parent-of-origin linkage models. We found linkage of relative hand skill in the RD siblings to 2p12-q11 with P=0.0000037 for paternal identity-by-descent sharing, whereas the maternally inherited locus was not linked to the trait (P>0.2). Similarly, in affected-sib-pair analysis of our schizophrenia dataset (241 sibling pairs), we found linkage to schizophrenia for paternal sharing with LOD=4.72, P=0.0000016, within 3 cM of the peak linkage to relative hand skill. Maternal linkage across the region was weak or non-significant. These similar paternal-specific linkages suggest that the causative genetic effects on 2p12-q11 are related. The linkages may be due to a single maternally imprinted influence on lateralized brain development that contains common functional polymorphisms.
  • Francks, C., Tozzi, F., Farmer, A., Vincent, J. B., Rujescu, D., St Clair, D., & Muglia, P. (2010). Population-based linkage analysis of schizophrenia and bipolar case-control cohorts identifies a potential susceptibility locus on 19q13. Molecular Psychiatry, 15, 319-325. doi:10.1038/mp.2008.100.

    Abstract

    Population-based linkage analysis is a new method for analysing genomewide single nucleotide polymorphism (SNP) genotype data in case-control samples, which does not assume a common disease, common variant model. The genome is scanned for extended segments that show increased identity-by-descent sharing within case-case pairs, relative to case-control or control-control pairs. The method is robust to allelic heterogeneity and is suited to mapping genes which contain multiple, rare susceptibility variants of relatively high penetrance. We analysed genomewide SNP datasets for two schizophrenia case-control cohorts, collected in Aberdeen (461 cases, 459 controls) and Munich (429 cases, 428 controls). Population-based linkage testing must be performed within homogeneous samples and it was therefore necessary to analyse the cohorts separately. Each cohort was first subjected to several procedures to improve genetic homogeneity, including identity-by-state outlier detection and multidimensional scaling analysis. When testing only cases who reported a positive family history of major psychiatric disease, consistent with a model of strongly penetrant susceptibility alleles, we saw a distinct peak on chromosome 19q in both cohorts that appeared in meta-analysis (P=0.000016) to surpass the traditional level for genomewide significance for complex trait linkage. The linkage signal was also present in a third case-control sample for familial bipolar disorder, such that meta-analysing all three datasets together yielded a linkage P=0.0000026. A model of rare but highly penetrant disease alleles may be more applicable to some instances of major psychiatric diseases than the common disease common variant model, and we therefore suggest that other genome scan datasets are analysed with this new, complementary method.
  • Francks, C. (2009). Understanding the genetics of behavioural and psychiatric traits will only be achieved through a realistic assessment of their complexity. Laterality: Asymmetries of Body, Brain and Cognition, 14(1), 11-16. doi:10.1080/13576500802536439.

    Abstract

    Francks et al. (2007) performed a recent study in which the first putative genetic effect on human handedness was identified (the imprinted locus LRRTM1 on human chromosome 2). In this issue of Laterality, Tim Crow and colleagues present a critique of that study. The present paper presents a personal response to that critique which argues that Francks et al. (2007) published a substantial body of evidence implicating LRRTM1 in handedness and schizophrenia. Progress will now be achieved by others trying to validate, refute, or extend those findings, rather than by further armchair discussion.
  • Francks, C. (2015). Exploring human brain lateralization with molecular genetics and genomics. Annals of the New York Academy of Sciences, 1359, 1-13. doi:10.1111/nyas.12770.

    Abstract

    Lateralizations of brain structure and motor behavior have been observed in humans as early as the first trimester of gestation, and are likely to arise from asymmetrical genetic–developmental programs, as in other animals. Studies of gene expression levels in postmortem tissue samples, comparing the left and right sides of the human cerebral cortex, have generally not revealed striking transcriptional differences between the hemispheres. This is likely due to lateralization of gene expression being subtle and quantitative. However, a recent re-analysis and meta-analysis of gene expression data from the adult superior temporal and auditory cortex found lateralization of transcription of genes involved in synaptic transmission and neuronal electrophysiology. Meanwhile, human subcortical mid- and hindbrain structures have not been well studied in relation to lateralization of gene activity, despite being potentially important developmental origins of asymmetry. Genetic polymorphisms with small effects on adult brain and behavioral asymmetries are beginning to be identified through studies of large datasets, but the core genetic mechanisms of lateralized human brain development remain unknown. Identifying subtly lateralized genetic networks in the brain will lead to a new understanding of how neuronal circuits on the left and right are differently fine-tuned to preferentially support particular cognitive and behavioral functions.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2003). Modeling knowledge-based inferences in story comprehension. Cognitive Science, 27(6), 875-910. doi:10.1016/j.cogsci.2003.07.002.

    Abstract

    A computational model of inference during story comprehension is presented, in which story situations are represented distributively as points in a high-dimensional “situation-state space.” This state space organizes itself on the basis of a constructed microworld description. From the same description, causal/temporal world knowledge is extracted. The distributed representation of story situations is more flexible than Golden and Rumelhart’s [Discourse Proc 16 (1993) 203] localist representation. A story taking place in the microworld corresponds to a trajectory through situation-state space. During the inference process, world knowledge is applied to the story trajectory. This results in an adjusted trajectory, reflecting the inference of propositions that are likely to be the case. Although inferences do not result from a search for coherence, they do cause story coherence to increase. The results of simulations correspond to empirical data concerning inference, reading time, and depth of processing. An extension of the model for simulating story retention shows how coherence is preserved during retention without controlling the retention process. Simulation results correspond to empirical data concerning story recall and intrusion.
  • Franke, B., Vasquez, A. A., Johansson, S., Hoogman, M., Romanos, J., Boreatti-Hümmer, A., Heine, M., Jacob, C. P., Lesch, K.-P., Casas, M., Ribasés, M., Bosch, R., Sánchez-Mora, C., Gómez-Barros, N., Fernàndez-Castillo, N., Bayés, M., Halmøy, A., Halleland, H., Landaas, E. T., Fasmer, O. B. and 13 moreFranke, B., Vasquez, A. A., Johansson, S., Hoogman, M., Romanos, J., Boreatti-Hümmer, A., Heine, M., Jacob, C. P., Lesch, K.-P., Casas, M., Ribasés, M., Bosch, R., Sánchez-Mora, C., Gómez-Barros, N., Fernàndez-Castillo, N., Bayés, M., Halmøy, A., Halleland, H., Landaas, E. T., Fasmer, O. B., Knappskog, P. M., Heister, A. J. G. A. M., Kiemeney, L. A., Kooij, J. J. S., Boonstra, A. M., Kan, C. C., Asherson, P., Faraone, S. V., Buitelaar, J. K., Haavik, J., Cormand, B., Ramos-Quiroga, J. A., & Reif, A. (2010). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology, 35(3), 656-664. doi:10.1038/npp.2009.170.

    Abstract

    Attention deficit/hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders with a worldwide prevalence around 4–5% in children and 1–4% in adults. Although ADHD is highly heritable and familial risk may contribute most strongly to the persistent form of the disorder, there are few studies on the genetics of ADHD in adults. In this paper, we present the first results of the International Multicentre Persistent ADHD Genetics CollaboraTion (IMpACT) that has been set up with the goal of performing research into the genetics of persistent ADHD. In this study, we carried out a combined analysis as well as a meta-analysis of the association of the SLC6A3/DAT1 gene with persistent ADHD in 1440 patients and 1769 controls from IMpACT and an earlier report. DAT1, encoding the dopamine transporter, is one of the most frequently studied genes in ADHD, though results have been inconsistent. A variable number tandem repeat polymorphism (VNTR) in the 3′-untranslated region (UTR) of the gene and, more recently, a haplotype of this VNTR with another VNTR in intron 8 have been the target of most studies. Although the 10/10 genotype of the 3′-UTR VNTR and the 10-6 haplotype of the two VNTRs are thought to be risk factors for ADHD in children, we found the 9/9 genotype and the 9-6 haplotype associated with persistent ADHD. In conclusion, a differential association of DAT1 with ADHD in children and in adults might help explain the inconsistencies observed in earlier association studies. However, the data might also imply that DAT1 has a modulatory rather than causative role in ADHD.
  • Franken, M. K., Acheson, D. J., McQueen, J. M., Hagoort, P., & Eisner, F. (2019). Consistency influences altered auditory feedback processing. Quarterly Journal of Experimental Psychology, 72(10), 2371-2379. doi:10.1177/1747021819838939.

    Abstract

    Previous research on the effect of perturbed auditory feedback in speech production has focused on two types of responses. In the short term, speakers generate compensatory motor commands in response to unexpected perturbations. In the longer term, speakers adapt feedforward motor programmes in response to feedback perturbations, to avoid future errors. The current study investigated the relation between these two types of responses to altered auditory feedback. Specifically, it was hypothesised that consistency in previous feedback perturbations would influence whether speakers adapt their feedforward motor programmes. In an altered auditory feedback paradigm, formant perturbations were applied either across all trials (the consistent condition) or only to some trials, whereas the others remained unperturbed (the inconsistent condition). The results showed that speakers’ responses were affected by feedback consistency, with stronger speech changes in the consistent condition compared with the inconsistent condition. Current models of speech-motor control can explain this consistency effect. However, the data also suggest that compensation and adaptation are distinct processes, which are not in line with all current models.
  • Franken, M. K., Hagoort, P., & Acheson, D. J. (2015). Modulations of the auditory M100 in an Imitation Task. Brain and Language, 142, 18-23. doi:10.1016/j.bandl.2015.01.001.

    Abstract

    Models of speech production explain event-related suppression of the auditory cortical
    response as reflecting a comparison between auditory predictions and feedback. The present MEG
    study was designed to test two predictions from this framework: 1) whether the reduced auditory
    response varies as a function of the mismatch between prediction and feedback; 2) whether individual
    variation in this response is predictive of speech-motor adaptation.
    Participants alternated between online imitation and listening tasks. In the imitation task, participants
    began each trial producing the same vowel (/e/) and subsequently listened to and imitated auditorilypresented
    vowels varying in acoustic distance from /e/.
    Results replicated suppression, with a smaller M100 during speaking than listening. Although we did
    not find unequivocal support for the first prediction, participants with less M100 suppression were
    better at the imitation task. These results are consistent with the enhancement of M100 serving as an
    error signal to drive subsequent speech-motor adaptation.
  • Frazier, T., Embacher, R., Tilot, A. K., Koenig, K., Mester, J., & Eng, C. (2015). Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. Molecular Psychiatry., 20, 1132-1138. doi:10.1038/mp.2014.125.

    Abstract

    PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. The present study examined molecular and phenotypic characteristics of individuals with germline heterozygous PTEN mutations and autism spectrum disorder (ASD) (PTEN-ASD), with the aim of identifying pathophysiologic markers that specifically associate with PTEN-ASD and that may serve as targets for future treatment trials. PTEN-ASD patients (n=17) were compared with idiopathic (non-PTEN) ASD patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=14). Group differences were evaluated for PTEN pathway protein expression levels, global and regional structural brain volumes and cortical thickness measures, neurocognition and adaptive behavior. RNA expression patterns and brain characteristics of a murine model of Pten mislocalization were used to further evaluate abnormalities observed in human PTEN-ASD patients. PTEN-ASD had a high proportion of missense mutations and showed reduced PTEN protein levels. Compared with the other groups, prominent white-matter and cognitive abnormalities were specifically associated with PTEN-ASD patients, with strong reductions in processing speed and working memory. White-matter abnormalities mediated the relationship between PTEN protein reductions and reduced cognitive ability. The Ptenm3m4 murine model had differential expression of genes related to myelination and increased corpus callosum. Processing speed and working memory deficits and white-matter abnormalities may serve as useful features that signal clinicians that PTEN is etiologic and prompting referral to genetic professionals for gene testing, genetic counseling and cancer risk management; and could reveal treatment targets in trials of treatments for PTEN-ASD.
  • Freathy, R. M., Mook-Kanamori, D. O., Sovio, U., Prokopenko, I., Timpson, N. J., Berry, D. J., Warrington, N. M., Widen, E., Hottenga, J. J., Kaakinen, M., Lange, L. A., Bradfield, J. P., Kerkhof, M., Marsh, J. A., Mägi, R., Chen, C.-M., Lyon, H. N., Kirin, M., Adair, L. S., Aulchenko, Y. S. and 64 moreFreathy, R. M., Mook-Kanamori, D. O., Sovio, U., Prokopenko, I., Timpson, N. J., Berry, D. J., Warrington, N. M., Widen, E., Hottenga, J. J., Kaakinen, M., Lange, L. A., Bradfield, J. P., Kerkhof, M., Marsh, J. A., Mägi, R., Chen, C.-M., Lyon, H. N., Kirin, M., Adair, L. S., Aulchenko, Y. S., Bennett, A. J., Borja, J. B., Bouatia-Naji, N., Charoen, P., Coin, L. J. M., Cousminer, D. L., de Geus, E. J. C., Deloukas, P., Elliott, P., Evans, D. M., Froguel, P., Glaser, B., Groves, C. J., Hartikainen, A.-L., Hassanali, N., Hirschhorn, J. N., Hofman, A., Holly, J. M. P., Hyppönen, E., Kanoni, S., Knight, B. A., Laitinen, J., Lindgren, C. M., McArdle, W. L., O'Reilly, P. F., Pennell, C. E., Postma, D. S., Pouta, A., Ramasamy, A., Rayner, N. W., Ring, S. M., Rivadeneira, F., Shields, B. M., Strachan, D. P., Surakka, I., Taanila, A., Tiesler, C., Uitterlinden, A. G., van Duijn, C. M., Wijga, A. H., Willemsen, G., Zhang, H., Zhao, J., Wilson, J. F., Steegers, E. A. P., Hattersley, A. T., Eriksson, J. G., Peltonen, L., Mohlke, K. L., Grant, S. F. A., Hakonarson, H., Koppelman, G. H., Dedoussis, G. V., Heinrich, J., Gillman, M. W., Palmer, L. J., Frayling, T. M., Boomsma, D. I., Davey Smith, G., Power, C., Jaddoe, V. W. V., Jarvelin, M.-R., McCarthy, M. I., The Genetic Investigation of ANthropometric Traits (GIANT) Consortium, The Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC), The Wellcome Trust Case Control Consortium (WTCCC), & the Early Growth Genetics (EGG) Consortium (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nature Genetics, 42(5), 430-435. doi:10.1038/ng.567.

    Abstract

    To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.
  • Frega, M., Linda, K., Keller, J. M., Gümüş-Akay, G., Mossink, B., Van Rhijn, J. R., Negwer, M., Klein Gunnewiek, T., Foreman, K., Kompier, N., Schoenmaker, C., Van den Akker, W., Van der Werf, I., Oudakker, A., Zhou, H., Kleefstra, T., Schubert, D., Van Bokhoven, H., & Nadif Kasri, N. (2019). Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling. Nature Communications, 10: 4928. doi:10.1038/s41467-019-12947-3.

    Abstract

    Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. In mice EHMT1 deficiency leads to similar neuronal network impairments with increased NMDAR function. Finally, we rescue the KS patient-derived neuronal network phenotypes by pharmacological inhibition of NMDARs. Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.

    Additional information

    supplementary information
  • French, C. A., Vinueza Veloz, M. F., Zhou, K., Peter, S., Fisher, S. E., Costa, R. M., & De Zeeuw, C. I. (2019). Differential effects of Foxp2 disruption in distinct motor circuits. Molecular Psychiatry, 24, 447-462. doi:10.1038/s41380-018-0199-x.

    Abstract

    Disruptions of the FOXP2 gene cause a speech and language disorder involving difficulties in sequencing orofacial movements. FOXP2 is expressed in cortico-striatal and cortico-cerebellar circuits important for fine motor skills, and affected individuals show abnormalities in these brain regions. We selectively disrupted Foxp2 in the cerebellar Purkinje cells, striatum or cortex of mice and assessed the effects on skilled motor behaviour using an operant lever-pressing task. Foxp2 loss in each region impacted behaviour differently, with striatal and Purkinje cell disruptions affecting the variability and the speed of lever-press sequences, respectively. Mice lacking Foxp2 in Purkinje cells showed a prominent phenotype involving slowed lever pressing as well as deficits in skilled locomotion. In vivo recordings from Purkinje cells uncovered an increased simple spike firing rate and decreased modulation of firing during limb movements. This was caused by increased intrinsic excitability rather than changes in excitatory or inhibitory inputs. Our findings show that Foxp2 can modulate different aspects of motor behaviour in distinct brain regions, and uncover an unknown role for Foxp2 in the modulation of Purkinje cell activity that severely impacts skilled movements.

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