Publications

Displaying 101 - 200 of 526
  • Eicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R. and 11 moreEicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R., Bartsch, H., Kuperman, J. M., Brown, T. T., Hagler, D. J., Dale, A. M., Jernigan, T. L., St Pourcain, B., Davey Smith, G., Ring, S. M., Gruen, J. R., & Pediatric Imaging, Neurocognition, and Genetics Study (2013). Genome-wide association study of shared components of reading disability and language impairment. Genes, Brain and Behavior, 12(8), 792-801. doi:10.1111/gbb.12085.

    Abstract

    Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.
  • 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.

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  • Eising, E., A Datson, N., van den Maagdenberg, A. M., & Ferrari, M. D. (2013). Epigenetic mechanisms in migraine: a promising avenue? BMC Medicine, 11(1): 26. doi:10.1186/1741-7015-11-26.

    Abstract

    Migraine is a disabling common brain disorder typically characterized by attacks of severe headache and associated with autonomic and neurological symptoms. Its etiology is far from resolved. This review will focus on evidence that epigenetic mechanisms play an important role in disease etiology. Epigenetics comprise both DNA methylation and post-translational modifications of the tails of histone proteins, affecting chromatin structure and gene expression. Besides playing a role in establishing cellular and developmental stage-specific regulation of gene expression, epigenetic processes are also important for programming lasting cellular responses to environmental signals. Epigenetic mechanisms may explain how non-genetic endogenous and exogenous factors such as female sex hormones, stress hormones and inflammation trigger may modulate attack frequency. Developing drugs that specifically target epigenetic mechanisms may open up exciting new avenues for the prophylactic treatment of migraine.
  • Eising, E., De Vries, B., Ferrari, M. D., Terwindt, G. M., & Van Den Maagdenberg, A. M. J. M. (2013). Pearls and pitfalls in genetic studies of migraine. Cephalalgia, 33(8), 614-625. doi:10.1177/0333102413484988.

    Abstract

    Purpose of review: Migraine is a prevalent neurovascular brain disorder with a strong genetic component, and different methodological approaches have been implemented to identify the genes involved. This review focuses on pearls and pitfalls of these approaches and genetic findings in migraine. Summary: Common forms of migraine (i.e. migraine with and without aura) are thought to have a polygenic make-up, whereas rare familial hemiplegic migraine (FHM) presents with a monogenic pattern of inheritance. Until a few years ago only studies in FHM yielded causal genes, which were identified by a classical linkage analysis approach. Functional analyses of FHM gene mutations in cellular and transgenic animal models suggest abnormal glutamatergic neurotransmission as a possible key disease mechanism. Recently, a number of genes were discovered for the common forms of migraine using a genome-wide association (GWA) approach, which sheds first light on the pathophysiological mechanisms involved. Conclusions: Novel technological strategies such as next-generation sequencing, which can be implemented in future genetic migraine research, may aid the identification of novel FHM genes and promote the search for the missing heritability of common migraine.
  • Eisner, F., Melinger, A., & Weber, A. (2013). Constraints on the transfer of perceptual learning in accented speech. Frontiers in Psychology, 4: 148. doi:10.3389/fpsyg.2013.00148.

    Abstract

    The perception of speech sounds can be re-tuned rapidly through a mechanism of lexically-driven learning (Norris et al 2003, Cogn.Psych. 47). Here we investigated this type of learning for English voiced stop consonants which are commonly de-voiced in word final position by Dutch learners of English . Specifically, this study asked under which conditions the change in pre-lexical representation encodes phonological information about the position of the critical sound within a word. After exposure to a Dutch learner’s productions of de-voiced stops in word-final position (but not in any other positions), British English listeners showed evidence of perceptual learning in a subsequent cross-modal priming task, where auditory primes with voiceless final stops (e.g., ‘seat’), facilitated recognition of visual targets with voiced final stops (e.g., SEED). This learning generalized to test pairs where the critical contrast was in word-initial position, e.g. auditory primes such as ‘town’ facilitated recognition of visual targets like DOWN (Experiment 1). Control listeners, who had not heard any stops by the speaker during exposure, showed no learning effects. The generalization to word-initial position did not occur when participants had also heard correctly voiced, word-initial stops during exposure (Experiment 2), and when the speaker was a native BE speaker who mimicked the word-final devoicing (Experiment 3). These results suggest that word position can be encoded in the pre-lexical adjustment to the accented phoneme contrast. Lexcially-guided feedback, distributional properties of the input, and long-term representations of accents all appear to modulate the pre-lexical re-tuning of phoneme categories.
  • Enfield, N. J. (2013). Language, culture, and mind: Trends and standards in the latest pendulum swing. Journal of the Royal Anthropological Institute, 19, 155-169. doi:10.1111/1467-9655.12008.

    Abstract

    The study of language in relation to anthropological questions has deep and varied roots, from Humboldt and Boas, Malinowski and Vygotsky, Sapir and Whorf, Wittgenstein and Austin, through to the linguistic anthropologists of now. A recent book by the linguist Daniel Everett, language: the cultural tool (2012), aims to bring some of the issues to a popular audience, with a focus on the idea that language is a tool for social action. I argue in this essay that the book does not represent the state of the art in this field, falling short on three central desiderata of a good account for the social functions of language and its relation to culture. I frame these desiderata in terms of three questions, here termed the cognition question, the causality question, and the culture question. I look at the relevance of this work for socio-cultural anthropology, in the context of a major interdisciplinary pendulum swing that is incipient in the study of language today, a swing away from formalist, innatist perspectives, and towards functionalist, empiricist perspectives. The role of human diversity and culture is foregrounded in all of this work. To that extent, Everett’s book is representative, but the quality of his argument is neither strong in itself nor representative of a movement that ought to be of special interest to socio-cultural anthropologists.
  • Enfield, N. J. (2013). Rejoinder to Daniel Everett [Comment]. Journal of the Royal Anthropological Institute, 19(3), 649. doi:10.1111/1467-9655.12056.
  • Enfield, N. J. (2013). Relationship thinking: Agency, enchrony, and human sociality. New York: Oxford University Press.
  • 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. (2013). The virtual you and the real you [Book review]. The Times Literary Supplement, April 12, 2013(5741), 31-32.

    Abstract

    Review of the books "Virtually you. The dangerous powers of the e-personality", by Elias Aboujaoude; "The big disconnect. The story of technology and loneliness", by Giles Slade; and "Net smart. How to thrive online", by Howard Rheingold.
  • Erb, J., Henry, M. J., Eisner, F., & Obleser, J. (2013). The brain dynamics of rapid perceptual adaptation to adverse listening conditions. The Journal of Neuroscience, 33, 10688-10697. doi:10.1523/​JNEUROSCI.4596-12.2013.

    Abstract

    Listeners show a remarkable ability to quickly adjust to degraded speech input. Here, we aimed to identify the neural mechanisms of such short-term perceptual adaptation. In a sparse-sampling, cardiac-gated functional magnetic resonance imaging (fMRI) acquisition, human listeners heard and repeated back 4-band-vocoded sentences (in which the temporal envelope of the acoustic signal is preserved, while spectral information is highly degraded). Clear-speech trials were included as baseline. An additional fMRI experiment on amplitude modulation rate discrimination quantified the convergence of neural mechanisms that subserve coping with challenging listening conditions for speech and non-speech. First, the degraded speech task revealed an “executive” network (comprising the anterior insula and anterior cingulate cortex), parts of which were also activated in the non-speech discrimination task. Second, trial-by-trial fluctuations in successful comprehension of degraded speech drove hemodynamic signal change in classic “language” areas (bilateral temporal cortices). Third, as listeners perceptually adapted to degraded speech, downregulation in a cortico-striato-thalamo-cortical circuit was observable. The present data highlight differential upregulation and downregulation in auditory–language and executive networks, respectively, with important subcortical contributions when successfully adapting to a challenging listening situation.
  • Ernestus, M. (2013). Halve woorden [Inaugural lecture]. Nijmegen: Radboud University.

    Abstract

    Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Psycholinguïstiek aan de Faculteit der Letteren van de Radboud Universiteit Nijmegen op vrijdag 18 januari 2013
  • Escudero, P., Broersma, M., & Simon, E. (2013). Learning words in a third language: Effects of vowel inventory and language proficiency. Language and Cognitive Processes, 28, 746-761. doi:10.1080/01690965.2012.662279.

    Abstract

    This study examines the effect of L2 and L3 proficiency on L3 word learning. Native speakers of Spanish with different proficiencies in L2 English and L3 Dutch and a control group of Dutch native speakers participated in a Dutch word learning task involving minimal and non-minimal word pairs. The minimal word pairs were divided into ‘minimal-easy’ and ‘minimal-difficult’ pairs on the basis of whether or not they are known to pose perceptual problems for L1 Spanish learners. Spanish speakers’ proficiency in Dutch and English was independently established by their scores on general language comprehension tests. All participants were trained and subsequently tested on the mapping between pseudo-words and non-objects. The results revealed that, first, both native and non-native speakers produced more errors and longer reaction times for minimal than for non-minimal word pairs, and secondly, Spanish learners had more errors and longer reaction times for minimal-difficult than for minimal-easy pairs. The latter finding suggests that there is a strong continuity between sound perception and L3 word recognition. With respect to proficiency, only the learner’s proficiency in their L2, namely English, predicted their accuracy on L3 minimal pairs. This shows that learning an L2 with a larger vowel inventory than the L1 is also beneficial for word learning in an L3 with a similarly large vowel inventory.

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  • Evans, D. M., Zhu, G., Dy, V., Heath, A. C., Madden, P. A. F., Kemp, J. P., McMahon, G., St Pourcain, B., Timpson, N. J., Golding, J., Lawlor, D. A., Steer, C., Montgomery, G. W., Martin, N. G., Smith, G. D., & Whitfield, J. B. (2013). Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Human Molecular Genetics, 22(19), 3998-4006. doi:10.1093/hmg/ddt239.

    Abstract

    Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women. We measured erythrocyte Cu, Se and Zn (Australian samples) or whole blood Se (UK samples) using inductively coupled plasma mass spectrometry. Genotyping was performed with Illumina chips and > 2.5 m SNPs were imputed from HapMap data. Genome-wide significant associations were found for each element. For Cu, there were two loci on chromosome 1 (most significant SNPs rs1175550, P = 5.03 × 10(-10), and rs2769264, P = 2.63 × 10(-20)); for Se, a locus on chromosome 5 was significant in both cohorts (combined P = 9.40 × 10(-28) at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P = 6.40 × 10(-12); rs2120019, P = 1.55 × 10(-18); and rs4826508, P = 1.40 × 10(-12), respectively). The Se locus covers three genes involved in metabolism of sulphur-containing amino acids and potentially of the analogous Se compounds; the chromosome 8 locus for Zn contains multiple genes for the Zn-containing enzyme carbonic anhydrase. Where potentially relevant genes were identified, they relate to metabolism of the element (Se) or to the presence at high concentration of a metal-containing protein (Cu).
  • Evans, D. M., Brion, M. J. A., Paternoster, L., Kemp, J. P., McMahon, G., Munafò, M., Whitfield, J. B., Medland, S. E., Montgomery, G. W., Timpson, N. J., St Pourcain, B., Lawlor, D. A., Martin, N. G., Dehghan, A., Hirschhorn, J., Davey Smith, G., The GIANT consortium, The CRP consortium, & The TAG Consortium (2013). Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates. PLoS Genet, 9(10): e1003919. doi:10.1371/journal.pgen.1003919.

    Abstract

    Author SummaryThe standard approach in genome-wide association studies is to analyse the relationship between genetic variants and disease one marker at a time. Significant associations between markers and disease are then used as evidence to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically only explain small amounts of disease risk. Our idea is to construct allelic scores that explain greater proportions of the variance in biological intermediates than single markers, and then use these scores to data mine genome-wide association studies. We show how allelic scores derived from known variants as well as allelic scores derived from hundreds of thousands of genetic markers across the genome explain significant portions of the variance in body mass index, levels of C-reactive protein, and LDLc cholesterol, and many of these scores show expected correlations with disease. Power calculations confirm the feasibility of scaling our strategy to the analysis of tens of thousands of molecular phenotypes in large genome-wide meta-analyses. Our method represents a simple way in which tens of thousands of molecular phenotypes could be screened for potential causal relationships with disease.
  • Fatemifar, G., Hoggart, C. J., Paternoster, L., Kemp, J. P., Prokopenko, I., Horikoshi, M., Wright, V. J., Tobias, J. H., Richmond, S., Zhurov, A. I., Toma, A. M., Pouta, A., Taanila, A., Sipila, K., Lähdesmäki, R., Pillas, D., Geller, F., Feenstra, B., Melbye, M., Nohr, E. A. and 6 moreFatemifar, G., Hoggart, C. J., Paternoster, L., Kemp, J. P., Prokopenko, I., Horikoshi, M., Wright, V. J., Tobias, J. H., Richmond, S., Zhurov, A. I., Toma, A. M., Pouta, A., Taanila, A., Sipila, K., Lähdesmäki, R., Pillas, D., Geller, F., Feenstra, B., Melbye, M., Nohr, E. A., Ring, S. M., St Pourcain, B., Timpson, N. J., Davey Smith, G., Jarvelin, M.-R., & Evans, D. M. (2013). Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. Human Molecular Genetics, 22(18), 3807-3817. doi:10.1093/hmg/ddt231.

    Abstract

    Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we performed a population-based genome-wide association study of 'age at first tooth' and 'number of teeth' using 5998 and 6609 individuals, respectively, from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2 446 724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of 15 independent loci, with 10 loci reaching genome-wide significance (P < 5 × 10(-8)) for 'age at first tooth' and 11 loci for 'number of teeth'. Together, these associations explain 6.06% of the variation in 'age of first tooth' and 4.76% of the variation in 'number of teeth'. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including an SNP in the protein-coding region of BMP4 (rs17563, P = 9.080 × 10(-17)). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development.
  • 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.
  • 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.
  • 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.

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  • Filippi, P. (2013). Connessioni regolate: la chiave ontologica alle specie-specificità? Epekeina, 2(1), 203-223. doi:10.7408/epkn.epkn.v2i1.41.

    Abstract

    This article focuses on “perceptual syntax”, the faculty to process patterns in sensory stimuli. Specifically, this study addresses the ability to perceptually connect elements that are: (1) of the same sensory modality; (2) spatially and temporally non-adjacent; or (3) within multiple sensorial domains. The underlying hypothesis is that in each animal species, this core cognitive faculty enables the perception of the environment-world (Umwelt) and consequently the possibility to survive within it. Importantly, it is suggested that in doing so, perceptual syntax determines (and guides) each species’ ontological access to the world. In support of this hypothesis, research on perceptual syntax in nonverbal individuals (preverbal infants and nonhuman animals) and humans is reviewed. This comparative approach results in theoretical remarks on human cognition and ontology, pointing to the conclusion that the ability to map cross-modal connections through verbal language is what makes humans’ form of life species-typical.
  • Filippi, P. (2013). Specifically Human: Going Beyond Perceptual Syntax. Biosemiotics, 7(1), 111-123. doi:10.1007/s12304-013-9187-3.

    Abstract

    The aim of this paper is to help refine the definition of humans as “linguistic animals” in light of a comparative approach on nonhuman animals’ cognitive systems. As Uexküll & Kriszat (1934/1992) have theorized, the epistemic access to each species-specific environment (Umwelt) is driven by different biocognitive processes. Within this conceptual framework, I identify the salient cognitive process that distinguishes each species typical perception of the world as the faculty of language meant in the following operational definition: the ability to connect different elements according to structural rules. In order to draw some conclusions about humans’ specific faculty of language, I review different empirical studies on nonhuman animals’ ability to recognize formal patterns of tokens. I suggest that what differentiates human language from other animals’ cognitive systems is the ability to categorize the units of a pattern, going beyond its perceptual aspects. In fact, humans are the only species known to be able to combine semantic units within a network of combinatorial logical relationships (Deacon 1997) that can be linked to the state of affairs in the external world (Wittgenstein 1922). I assume that this ability is the core cognitive process underlying a) the capacity to speak (or to reason) in verbal propositions and b) the general human faculty of language expressed, for instance, in the ability to draw visual conceptual maps or to compute mathematical expressions. In light of these considerations, I conclude providing some research questions that could lead to a more detailed comparative exploration of the faculty of language.
  • 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., & Ridley, M. (2013). Culture, genes, and the human revolution. Science, 340(6135), 929-930. doi:10.1126/science.1236171.

    Abstract

    State-of-the-art DNA sequencing is providing ever more detailed insights into the genomes of humans, extant apes, and even extinct hominins (1–3), offering unprecedented opportunities to uncover the molecular variants that make us human. A common assumption is that the emergence of behaviorally modern humans after 200,000 years ago required—and followed—a specific biological change triggered by one or more genetic mutations. For example, Klein has argued that the dawn of human culture stemmed from a single genetic change that “fostered the uniquely modern ability to adapt to a remarkable range of natural and social circumstance” (4). But are evolutionary changes in our genome a cause or a consequence of cultural innovation (see the figure)?

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  • 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.
  • Fitneva, S. A., Lam, N. H. L., & Dunfield, K. A. (2013). The development of children's information gathering: To look or to ask? Developmental Psychology, 49(3), 533-542. doi:10.1037/a0031326.

    Abstract

    The testimony of others and direct experience play a major role in the development of children's knowledge. Children actively use questions to seek others' testimony and explore the environment. It is unclear though whether children distinguish when it is better to ask from when it is better to try to find an answer by oneself. In 2 experiments, we examined the ability of 4- and 6-year-olds to select between looking and asking to determine visible and invisible properties of entities (e.g., hair color vs. knowledge of French). All children chose to look more often for visible than invisible properties. However, only 6-year-olds chose above chance to look for visible properties and to ask for invisible properties. Four-year-olds showed a preference for looking in one experiment and asking in the other. The results suggest substantial development in the efficacy of children's learning in early childhood.
  • 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
  • Flecken, M., von Stutterheim, C., & Carroll, M. (2013). Principles of information organization in L2 use: Complex patterns of conceptual transfer. International review of applied linguistics, 51(2), 229-242. doi:10.1515/iral-2013-0010.
  • Floyd, S. (2013). [Review of the book Lessons from a Quechua strongwoman: ideophony, dialogue and perspective. by Janis Nuckolls. 2010]. Journal of Linguistic Anthropology, 22, 256-258. doi:10.1111/j.1548-1395.2012.01166.x.
  • 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.
  • 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.
  • 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.

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    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.
  • Frost, R. L. A., Monaghan, P., & Christiansen, M. H. (2019). Mark my words: High frequency marker words impact early stages of language learning. Journal of Experimental Psychology: Learning, Memory, and Cognition, 45(10), 1883-1898. doi:10.1037/xlm0000683.

    Abstract

    High frequency words have been suggested to benefit both speech segmentation and grammatical categorization of the words around them. Despite utilizing similar information, these tasks are usually investigated separately in studies examining learning. We determined whether including high frequency words in continuous speech could support categorization when words are being segmented for the first time. We familiarized learners with continuous artificial speech comprising repetitions of target words, which were preceded by high-frequency marker words. Crucially, marker words distinguished targets into 2 distributionally defined categories. We measured learning with segmentation and categorization tests and compared performance against a control group that heard the artificial speech without these marker words (i.e., just the targets, with no cues for categorization). Participants segmented the target words from speech in both conditions, but critically when the marker words were present, they influenced acquisition of word-referent mappings in a subsequent transfer task, with participants demonstrating better early learning for mappings that were consistent (rather than inconsistent) with the distributional categories. We propose that high-frequency words may assist early grammatical categorization, while speech segmentation is still being learned.

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  • Fueller, C., Loescher, J., & Indefrey, P. (2013). Writing superiority in cued recall. Frontiers in Psychology, 4: 764. doi:10.3389/fpsyg.2013.00764.

    Abstract

    In list learning paradigms with free recall, written recall has been found to be less susceptible to intrusions of related concepts than spoken recall when the list items had been visually presented. This effect has been ascribed to the use of stored orthographic representations from the study phase during written recall (Kellogg, 2001). In other memory retrieval paradigms, by contrast, either better recall for modality-congruent items or an input-independent writing superiority effect have been found (Grabowski, 2005). In a series of four experiments using a paired associate learning paradigm we tested (a) whether output modality effects on verbal recall can be replicated in a paradigm that does not involve the rejection of semantically related intrusion words, (b) whether a possible superior performance for written recall was due to a slower response onset for writing as compared to speaking in immediate recall, and (c) whether the performance in paired associate word recall was correlated with performance in an additional episodic memory recall task. We observed better written recall in the first half of the recall phase, irrespective of the modality in which the material was presented upon encoding. An explanation for this effect based on longer response latencies for writing and hence more time for memory retrieval could be ruled out by showing that the effect persisted in delayed response versions of the task. Although there was some evidence that stored additional episodic information may contribute to the successful retrieval of associate words, this evidence was only found in the immediate response experiments and hence is most likely independent from the observed output modality effect. In sum, our results from a paired associate learning paradigm suggest that superior performance for written vs. spoken recall cannot be (solely) explained in terms of additional access to stored orthographic representations from the encoding phase. Our findings rather suggest a general writing-superiority effect at the time of memory retrieval.
  • Galbiati, A., Verga, L., Giora, E., Zucconi, M., & Ferini-Strambi, L. (2019). The risk of neurodegeneration in REM sleep behavior disorder: A systematic review and meta-analysis of longitudinal studies. Sleep Medicine Reviews, 43, 37-46. doi:10.1016/j.smrv.2018.09.008.

    Abstract

    Several studies report an association between REM Sleep Behavior Disorder (RBD) and neurodegenerative diseases, in particular synucleinopathies. Interestingly, the onset of RBD precedes the development of neurodegeneration by several years. This review and meta-analysis aims to establish the rate of conversion of RBD into neurodegenerative diseases. Longitudinal studies were searched from the PubMed, Web of Science, and SCOPUS databases. Using random-effect modeling, we performed a meta-analysis on the rate of RBD conversions into neurodegeneration. Furthermore, we fitted a Kaplan-Meier analysis and compared the differences between survival curves of different diseases with log-rank tests. The risk for developing neurodegenerative diseases was 33.5% at five years follow-up, 82.4% at 10.5 years and 96.6% at 14 years. The average conversion rate was 31.95% after a mean duration of follow-up of 4.75 ± 2.43 years. The majority of RBD patients converted to Parkinson's Disease (43%), followed by Dementia with Lewy Bodies (25%). The estimated risk for RBD patients to develop a neurodegenerative disease over a long-term follow-up is more than 90%. Future studies should include control group for the evaluation of REM sleep without atonia as marker for neurodegeneration also in non-clinical population and target RBD as precursor of neurodegeneration to develop protective trials.
  • Ganushchak, L. Y., Krott, A., Frisson, S., & Meyer, A. S. (2013). Processing words and Short Message Service shortcuts in sentential contexts: An eye movement study. Applied Psycholinguistics, 34, 163-179. doi:10.1017/S0142716411000658.

    Abstract

    The present study investigated whether Short Message Service shortcuts are more difficult to process in sentence context than the spelled-out word equivalent and, if so, how any additional processing difficulty arises. Twenty-four student participants read 37 Short Message Service shortcuts and word equivalents embedded in semantically plausible and implausible contexts (e.g., He left/drank u/you a note) while their eye movements were recorded. There were effects of plausibility and spelling on early measures of processing difficulty (first fixation durations, gaze durations, skipping, and first-pass regression rates for the targets), but there were no interactions of plausibility and spelling. Late measures of processing difficulty (second run gaze duration and total fixation duration) were only affected by plausibility but not by spelling. These results suggest that shortcuts are harder to recognize, but that, once recognized, they are integrated into the sentence context as easily as ordinary words.
  • Gao, Y., Zheng, L., Liu, X., Nichols, E. S., Zhang, M., Shang, L., Ding, G., Meng, Z., & Liu, L. (2019). First and second language reading difficulty among Chinese–English bilingual children: The prevalence and influences from demographic characteristics. Frontiers in Psychology, 10: 2544. doi:10.3389/fpsyg.2019.02544.

    Abstract

    Learning to read a second language (L2) can pose a great challenge for children who have already been struggling to read in their first language (L1). Moreover, it is not clear whether, to what extent, and under what circumstances L1 reading difficulty increases the risk of L2 reading difficulty. This study investigated Chinese (L1) and English (L2) reading skills in a large representative sample of 1,824 Chinese–English bilingual children in Grades 4 and 5 from both urban and rural schools in Beijing. We examined the prevalence of reading difficulty in Chinese only (poor Chinese readers, PC), English only (poor English readers, PE), and both Chinese and English (poor bilingual readers, PB) and calculated the co-occurrence, that is, the chances of becoming a poor reader in English given that the child was already a poor reader in Chinese. We then conducted a multinomial logistic regression analysis and compared the prevalence of PC, PE, and PB between children in Grade 4 versus Grade 5, in urban versus rural areas, and in boys versus girls. Results showed that compared to girls, boys demonstrated significantly higher risk of PC, PE, and PB. Meanwhile, compared to the 5th graders, the 4th graders demonstrated significantly higher risk of PC and PB. In addition, children enrolled in the urban schools were more likely to become better second language readers, thus leading to a concerning rural–urban gap in the prevalence of L2 reading difficulty. Finally, among these Chinese–English bilingual children, regardless of sex and school location, poor reading skill in Chinese significantly increased the risk of also being a poor English reader, with a considerable and stable co-occurrence of approximately 36%. In sum, this study suggests that despite striking differences between alphabetic and logographic writing systems, L1 reading difficulty still significantly increases the risk of L2 reading difficulty. This indicates the shared meta-linguistic skills in reading different writing systems and the importance of understanding the universality and the interdependent relationship of reading between different writing systems. Furthermore, the male disadvantage (in both L1 and L2) and the urban–rural gap (in L2) found in the prevalence of reading difficulty calls for special attention to disadvantaged populations in educational practice.
  • Gao, X., Dera, J., Nijhoff, A. D., & Willems, R. M. (2019). Is less readable liked better? The case of font readability in poetry appreciation. PLoS One, 14(12): e0225757. doi:10.1371/journal.pone.0225757.

    Abstract

    Previous research shows conflicting findings for the effect of font readability on comprehension and memory for language. It has been found that—perhaps counterintuitively–a hard to read font can be beneficial for language comprehension, especially for difficult language. Here we test how font readability influences the subjective experience of poetry reading. In three experiments we tested the influence of poem difficulty and font readability on the subjective experience of poems. We specifically predicted that font readability would have opposite effects on the subjective experience of easy versus difficult poems. Participants read poems which could be more or less difficult in terms of conceptual or structural aspects, and which were presented in a font that was either easy or more difficult to read. Participants read existing poems and subsequently rated their subjective experience (measured through four dependent variables: overall liking, perceived flow of the poem, perceived topic clarity, and perceived structure). In line with previous literature we observed a Poem Difficulty x Font Readability interaction effect for subjective measures of poetry reading. We found that participants rated easy poems as nicer when presented in an easy to read font, as compared to when presented in a hard to read font. Despite the presence of the interaction effect, we did not observe the predicted opposite effect for more difficult poems. We conclude that font readability can influence reading of easy and more difficult poems differentially, with strongest effects for easy poems.

    Additional information

    https://osf.io/jwcqt/
  • Garcia, R., Roeser, J., & Höhle, B. (2019). Thematic role assignment in the L1 acquisition of Tagalog: Use of word order and morphosyntactic markers. Language Acquisition, 26(3), 235-261. doi:10.1080/10489223.2018.1525613.

    Abstract

    It is a common finding across languages that young children have problems in understanding patient-initial sentences. We used Tagalog, a verb-initial language with a reliable voice-marking system and highly frequent patient voice constructions, to test the predictions of several accounts that have been proposed to explain this difficulty: the frequency account, the Competition Model, and the incremental processing account. Study 1 presents an analysis of Tagalog child-directed speech, which showed that the dominant argument order is agent-before-patient and that morphosyntactic markers are highly valid cues to thematic role assignment. In Study 2, we used a combined self-paced listening and picture verification task to test how Tagalog-speaking adults and 5- and 7-year-old children process reversible transitive sentences. Results showed that adults performed well in all conditions, while children’s accuracy and listening times for the first noun phrase indicated more difficulty in interpreting patient-initial sentences in the agent voice compared to the patient voice. The patient voice advantage is partly explained by both the frequency account and incremental processing account.
  • Gauvin, H. S., Hartsuiker, R. J., & Huettig, F. (2013). Speech monitoring and phonologically-mediated eye gaze in language perception and production: A comparison using printed word eye-tracking. Frontiers in Human Neuroscience, 7: 818. doi:10.3389/fnhum.2013.00818.

    Abstract

    The Perceptual Loop Theory of speech monitoring assumes that speakers routinely inspect their inner speech. In contrast, Huettig and Hartsuiker (2010) observed that listening to one’s own speech during language production drives eye-movements to phonologically related printed words with a similar time-course as listening to someone else’s speech does in speech perception experiments. This suggests that speakers listen to their own overt speech, but not to their inner speech. However, a direct comparison between production and perception with the same stimuli and participants is lacking so far. The current printed word eye-tracking experiment therefore used a within-subjects design, combining production and perception. Displays showed four words, of which one, the target, either had to be named or was presented auditorily. Accompanying words were phonologically related, semantically related, or unrelated to the target. There were small increases in looks to phonological competitors with a similar time-course in both production and perception. Phonological effects in perception however lasted longer and had a much larger magnitude. We conjecture that this difference is related to a difference in predictability of one’s own and someone else’s speech, which in turn has consequences for lexical competition in other-perception and possibly suppression of activation in self-perception.
  • Gavin, M., Botero, C. A., Bowern, C., Colwell, R. K., Dunn, M., Dunn, R. R., Gray, R. D., Kirby, K. R., McCarter, J., Powell, A., Rangel, T. F., Steppe, J. R., Trautwein, M., Verdolin, J. L., & Yanega, G. (2013). Towards a mechanistic understanding of linguistic diversity. Bioscience, 63, 524-535. doi:10.1525/bio.2013.63.7.6.

    Abstract

    Our species displays remarkable linguistic diversity. While the uneven distribution of this diversity demands explanation, the drivers of these patterns have not been conclusively determined. We address this issue in two steps. First, we review previous empirical studies that have suggested environmental, geographical, and socio-cultural drivers of linguistic diversification. However, contradictory results and methodological variation make it difficult to draw general conclusions. Second, we outline a program for future research. We suggest that future analyses should account for interactions among causal factors, lack of spatial and phylogenetic independence of data, and transitory patterns. Recent analytical advances in biogeography and evolutionary biology, such as simulation modeling of diversity patterns, hold promise for testing four key mechanisms of language diversification proposed here: neutral change, population movement, contact, and selection. Future modeling approaches should also evaluate how the outcomes of these processes are influenced by demography, environmental heterogeneity, and time.
  • Gehrig, J., Michalareas, G., Forster, M.-T., Lei, J., Hok, P., Laufs, H., Senft, C., Seifert, V., Schoffelen, J.-M., Hanslmayr, H., & Kell, C. A. (2019). Low-frequency oscillations code speech during verbal working memory. The Journal of Neuroscience, 39(33), 6498-6512. doi:10.1523/JNEUROSCI.0018-19.2019.

    Abstract

    The way the human brain represents speech in memory is still unknown. An obvious characteristic of speech is its evolvement over time.
    During speech processing, neural oscillations are modulated by the temporal properties of the acoustic speech signal, but also acquired
    knowledge on the temporal structure of language influences speech perception-related brain activity. This suggests that speech could be
    represented in the temporal domain, a form of representation that the brain also uses to encode autobiographic memories. Empirical
    evidence for such a memory code is lacking. We investigated the nature of speech memory representations using direct cortical recordings
    in the left perisylvian cortex during delayed sentence reproduction in female and male patients undergoing awake tumor surgery.
    Our results reveal that the brain endogenously represents speech in the temporal domain. Temporal pattern similarity analyses revealed
    that the phase of frontotemporal low-frequency oscillations, primarily in the beta range, represents sentence identity in working memory.
    The positive relationship between beta power during working memory and task performance suggests that working memory
    representations benefit from increased phase separation.
  • Gentner, D., Ozyurek, A., Gurcanli, O., & Goldin-Meadow, S. (2013). Spatial language facilitates spatial cognition: Evidence from children who lack language input. Cognition, 127, 318-330. doi:10.1016/j.cognition.2013.01.003.

    Abstract

    Does spatial language influence how people think about space? To address this question, we observed children who did not know a conventional language, and tested their performance on nonlinguistic spatial tasks. We studied deaf children living in Istanbul whose hearing losses prevented them from acquiring speech and whose hearing parents had not exposed them to sign. Lacking a conventional language, the children used gestures, called homesigns, to communicate. In Study 1, we asked whether homesigners used gesture to convey spatial relations, and found that they did not. In Study 2, we tested a new group of homesigners on a Spatial Mapping Task, and found that they performed significantly worse than hearing Turkish children who were matched to the deaf children on another cognitive task. The absence of spatial language thus went hand-in-hand with poor performance on the nonlinguistic spatial task, pointing to the importance of spatial language in thinking about space.
  • Gialluisi, A., Incollu, S., Pippucci, T., Lepori, M. B., Zappu, A., Loudianos, G., & Romeo, G. (2013). The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. European Journal of Human Genetics, 21, 1308-1311. doi:10.1038/ejhg.2013.43.

    Abstract

    Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10-4, HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.
  • Gialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D. and 25 moreGialluisi, A., Andlauer, T. F. M., Mirza-Schreiber, N., Moll, K., Becker, J., Hoffmann, P., Ludwig, K. U., Czamara, D., St Pourcain, B., Brandler, W., Honbolygó, F., Tóth, D., Csépe, V., Huguet, G., Morris, A. P., Hulslander, J., Willcutt, E. G., DeFries, J. C., Olson, R. K., Smith, S. D., Pennington, B. F., Vaessen, A., Maurer, U., Lyytinen, H., Peyrard-Janvid, M., Leppänen, P. H. T., Brandeis, D., Bonte, M., Stein, J. F., Talcott, J. B., Fauchereau, F., Wilcke, A., Francks, C., Bourgeron, T., Monaco, A. P., Ramus, F., Landerl, K., Kere, J., Scerri, T. S., Paracchini, S., Fisher, S. E., Schumacher, J., Nöthen, M. M., Müller-Myhsok, B., & Schulte-Körne, G. (2019). Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. Translational Psychiatry, 9(1): 77. doi:10.1038/s41398-019-0402-0.

    Abstract

    Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10−9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10−8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10−8) and with all the cognitive traits tested (p = 3.07 × 10−8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10−5–10−7]) and negatively associated with ADHD PRS (p ~ [10−8−10−17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.
  • Gialluisi, A., Dediu, D., Francks, C., & Fisher, S. E. (2013). Persistence and transmission of recessive deafness and sign language: New insights from village sign languages. European Journal of Human Genetics, 21, 894-896. doi:10.1038/ejhg.2012.292.

    Abstract

    First paragraph: The study of the transmission of sign languages can give novel insights into the transmission of spoken languages1 and, more generally, into gene–culture coevolution. Over the years, several papers related to the persistence of sign language have been
    reported.2–6 All of these studies have emphasized the role of assortative (non-random) mating by deafness state (ie, a tendency for deaf individuals to partner together) for increasing the frequency of recessive deafness, and hence for the persistence of sign language in a population.
  • Glaser, Y. G., Martin, R. C., Van Dyke, J. A., Hamilton, A. C., & Tan, Y. (2013). Neural basis of semantic and syntactic interference in sentence comprehension. Brain and Language, 126(3), 314-326. doi:10.1016/j.bandl.2013.06.006.

    Abstract

    According to the cue-based parsing approach (Lewis, Vasishth, & Van Dyke, 2006), sentence comprehension difficulty derives from interference from material that partially matches syntactic and semantic retrieval cues. In a 2 (low vs. high semantic interference) × 2 (low vs. high syntactic interference) fMRI study, greater activation was observed in left BA44/45 for high versus low syntactic interference conditions following sentences and in left BA45/47 for high versus low semantic interference conditions following comprehension questions. A conjunction analysis showed BA45 associated with both types of interference, while BA47 was associated with only semantic interference. Greater activation was also observed in the left STG in the high interference conditions. Importantly, the results for the LIFG could not be attributed to greater working memory capacity demands for high interference conditions. The results favor a fractionation of the LIFG wherein BA45 is associated with post-retrieval selection and BA47 with controlled retrieval of semantic information.
  • Glock, P., Raum, B., Heermann, T., Kretschmer, S., Schweizer, J., Mücksch, J., Alagöz, G., & Schwille, P. (2019). Stationary patterns in a two-protein reaction-diffusion system. ACS Synthetic Biology, 8(1), 148-157. doi:10.1021/acssynbio.8b00415.

    Abstract

    Patterns formed by reaction-diffusion mechanisms are crucial for the development or sustenance of most organisms in nature. Patterns include dynamic waves, but are more often found as static distributions, such as animal skin patterns. Yet, a simplistic biological model system to reproduce and quantitatively investigate static reaction-diffusion patterns has been missing so far. Here, we demonstrate that the Escherichia coli MM system, known for its oscillatory behavior between the cell poles, is under certain conditions capable of transitioning to quasi-stationary protein distributions on membranes closely resembling Turing patterns. We systematically titrated both proteins, MinD and MinE, and found that removing all purification tags and linkers from the N-terminus of MinE was critical for static patterns to occur. At small bulk heights, dynamic patterns dominate, such as in rod-shaped microcompartments. We see implications of this work for studying pattern formation in general, but also for creating artificial gradients as downstream cues in synthetic biology applications.
  • Goldrick, M., McClain, R., Cibelli, E., Adi, Y., Gustafson, E., Moers, C., & Keshet, J. (2019). The influence of lexical selection disruptions on articulation. Journal of Experimental Psychology: Learning, Memory, and Cognition, 45(6), 1107-1141. doi:10.1037/xlm0000633.

    Abstract

    Interactive models of language production predict that it should be possible to observe long-distance interactions; effects that arise at one level of processing influence multiple subsequent stages of representation and processing. We examine the hypothesis that disruptions arising in nonform-based levels of planning—specifically, lexical selection—should modulate articulatory processing. A novel automatic phonetic analysis method was used to examine productions in a paradigm yielding both general disruptions to formulation processes and, more specifically, overt errors during lexical selection. This analysis method allowed us to examine articulatory disruptions at multiple levels of analysis, from whole words to individual segments. Baseline performance by young adults was contrasted with young speakers’ performance under time pressure (which previous work has argued increases interaction between planning and articulation) and performance by older adults (who may have difficulties inhibiting nontarget representations, leading to heightened interactive effects). The results revealed the presence of interactive effects. Our new analysis techniques revealed these effects were strongest in initial portions of responses, suggesting that speech is initiated as soon as the first segment has been planned. Interactive effects did not increase under response pressure, suggesting interaction between planning and articulation is relatively fixed. Unexpectedly, lexical selection disruptions appeared to yield some degree of facilitation in articulatory processing (possibly reflecting semantic facilitation of target retrieval) and older adults showed weaker, not stronger interactive effects (possibly reflecting weakened connections between lexical and form-level representations).
  • Golestani, N., Hervais-Adelman, A., Obleser, J., & Scott, S. K. (2013). Semantic versus perceptual interactions in neural processing of speech-in-noise. NeuroImage, 79, 52-61. doi:10.1016/j.neuroimage.2013.04.049.

    Abstract

    Native listeners make use of higher-level, context-driven semantic and linguistic information during the perception of speech-in-noise. In a recent behavioral study, using a new paradigm that isolated the semantic level of speech by using words, we showed that this native-language benefit is at least partly driven by semantic context (Golestani et al., 2009). Here, we used the same paradigm in a functional magnetic resonance imaging (fMRI) experiment to study the neural bases of speech intelligibility, as well as to study the neural bases of this semantic context effect in the native language. A forced-choice recognition task on the first of two auditorily presented semantically related or unrelated words was employed, where the first, 'target' word was embedded in different noise levels. Results showed that activation in components of the brain language network, including Broca's area and the left posterior superior temporal sulcus, as well as brain regions known to be functionally related to attention and task difficulty, was modulated by stimulus intelligibility. In line with several previous studies examining the role of linguistic context in the intelligibility of degraded speech at the sentence level, we found that activation in the angular gyrus of the left inferior parietal cortex was modulated by the presence of semantic context, and further, that this modulation depended on the intelligibility of the speech stimuli. Our findings help to further elucidate neural mechanisms underlying the interaction of context-driven and signal-driven factors during the perception of degraded speech, and this specifically at the semantic level. (c) 2013 Elsevier Inc. All rights reserved.
  • Goncharova, M. V., & Klenova, A. V. (2019). Siberian crane chick calls reflect their thermal state. Bioacoustics, 28, 115-128. doi:10.1080/09524622.2017.1399827.

    Abstract

    Chicks can convey information about their needs with calls. But it is still unknown if there are any universal need indicators in chick vocalizations. Previous studies have shown that in some species vocal activity and/or temporal-frequency variables of calls are related to the chick state, whereas other studies did not confirm it. Here, we tested experimentally whether vocal activity and temporal-frequency variables of calls change with cooling. We studied 10 human-raised
    Siberian crane (Grus leucogeranus) chicks at 3–15 days of age. We found that the cooled chicks produced calls higher in fundamental
    frequency and power variables, longer in duration and at a higher calling rate than in the control chicks. However, we did not find
    significant changes in level of entropy and occurrence of non-linear phenomena in chick calls recorded during the experimental cooling. We suggest that the level of vocal activity is a universal indicator of need for warmth in precocial and semi-precocial birds (e.g. cranes), but not in altricial ones. We also assume that coding of needs via temporal-frequency variables of calls is typical in species whose adults could not confuse their chicks with other chicks. Siberian cranes stay on separate territories during their breeding season, so parents do not need to check individuality of their offspring in the home area. In this case, all call characteristics are available for other purposes and serve to communicate chicks’ vital needs.
  • Graham, S. A., & Fisher, S. E. (2013). Decoding the genetics of speech and language. Current Opinion in Neurobiology, 23, 43-51. doi:10.1016/j.conb.2012.11.006.

    Abstract

    Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. In this article, we describe how investigations of these and other candidate genes, in humans, animals and cellular models, are unravelling the connections between genes and cognition. This depends on interdisciplinary research at multiple levels, from determining molecular interactions and functional roles in neural cell-biology all the way through to effects on brain structure and activity.
  • Gregersen, P. K., Kowalsky, E., Lee, A., Baron-Cohen, S., Fisher, S. E., Asher, J. E., Ballard, D., Freudenberg, J., & Li, W. (2013). Absolute pitch exhibits phenotypic and genetic overlap with synesthesia. Human Molecular Genetics, 22, 2097-2104. doi:10.1093/hmg/ddt059.

    Abstract

    Absolute pitch and synesthesia are two uncommon cognitive traits that reflect increased neuronal connectivity and have been anecdotally reported to occur together in a same individual. Here we systematically evaluate the occurrence of syesthesia in a population of 768 subjects with documented absolute pitch. Out of these 768 subjects, 151(20.1%) reported synesthesia, most commonly with color. These self-reports of synesthesia were validated in a subset of 21 study subjects using an established methodology. We further carried out combined linkage analysis of 53 multiplex families with absolute pitch and 36 multiplex families with synesthesia. We observed a peak NPL LOD=4.68 on chromosome 6q, as well as evidence of linkage on chromosome 2 using a dominant model. These data establish the close phenotypic and genetic relationship between absolute pitch and synesthesia. The chromosome 6 linkage region contains 73 genes; several leading candidate genes involved in neurodevelopment were investigated by exon resequencing. However, further studies will be required to definitively establish the identity of the causative gene(s) in the region.
  • Grey, S., Schubel, L. C., McQueen, J. M., & Van Hell, J. G. (2019). Processing foreign-accented speech in a second language: Evidence from ERPs during sentence comprehension in bilinguals. Bilingualism: Language and Cognition, 22(5), 912-929. doi:10.1017/S1366728918000937.

    Abstract

    This study examined electrophysiological correlates of sentence comprehension of native-accented and foreign-accented
    speech in a second language (L2), for sentences produced in a foreign accent different from that associated with the listeners’
    L1. Bilingual speaker-listeners process different accents in their L2 conversations, but the effects on real-time L2 sentence
    comprehension are unknown. Dutch–English bilinguals listened to native American-English accented sentences and foreign
    (and for them unfamiliarly-accented) Chinese-English accented sentences while EEG was recorded. Behavioral sentence
    comprehension was highly accurate for both native-accented and foreign-accented sentences. ERPs showed different patterns
    for L2 grammar and semantic processing of native- and foreign-accented speech. For grammar, only native-accented speech
    elicited an Nref. For semantics, both native- and foreign-accented speech elicited an N400 effect, but with a delayed onset
    across both accent conditions. These findings suggest that the way listeners comprehend native- and foreign-accented
    sentences in their L2 depends on their familiarity with the accent.
  • Gross, J., Baillet, S., Barnes, G. R., Henson, R. N., Hillebrand, A., Jensen, O., Jerbi, K., Litvak, V., Maess, B., Oostenveld, R., Parkkonen, L., Taylor, J. R., Van Wassenhove, V., Wibral, M., & Schoffelen, J.-M. (2013). Good practice for conducting and reporting MEG research. NeuroImage, 65, 349-363. doi:10.1016/j.neuroimage.2012.10.001.

    Abstract

    Magnetoencephalographic (MEG) recordings are a rich source of information about the neural dynamics underlying cognitive processes in the brain, with excellent temporal and good spatial resolution. In recent years there have been considerable advances in MEG hardware developments as well as methodological developments. Sophisticated analysis techniques are now routinely applied and continuously improved, leading to fascinating insights into the intricate dynamics of neural processes. However, the rapidly increasing level of complexity of the different steps in a MEG study make it difficult for novices, and sometimes even for experts, to stay aware of possible limitations and caveats. Furthermore, the complexity of MEG data acquisition and data analysis requires special attention when describing MEG studies in publications, in order to facilitate interpretation and reproduction of the results. This manuscript aims at making recommendations for a number of important data acquisition and data analysis steps and suggests details that should be specified in manuscripts reporting MEG studies. These recommendations will hopefully serve as guidelines that help to strengthen the position of the MEG research community within the field of neuroscience, and may foster discussion within the community in order to further enhance the quality and impact of MEG research.
  • Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., Belliveau, R., Bettella, F., Buxbaum, J. D., Bybjerg-Grauholm, J., Bækved-Hansen, M., Cerrato, F., Chambert, K., Christensen, J. H., Churchhouse, C., Dellenvall, K. and 55 moreGrove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., Belliveau, R., Bettella, F., Buxbaum, J. D., Bybjerg-Grauholm, J., Bækved-Hansen, M., Cerrato, F., Chambert, K., Christensen, J. H., Churchhouse, C., Dellenvall, K., Demontis, D., De Rubeis, S., Devlin, B., Djurovic, S., Dumont, A., Goldstein, J., Hansen, C. S., Hauberg, M. E., Hollegaard, M. V., Hope, S., Howrigan, D. P., Huang, H., Hultman, C., Klei, L., Maller, J., Martin, J., Martin, A. R., Moran, J., Nyegaard, M., Nærland, T., Palmer, D. S., Palotie, A., Pedersen, C. B., Pedersen, M. G., Poterba, T., Poulsen, J. B., St Pourcain, B., Qvist, P., Rehnström, K., Reichenberg, A., Reichert, J., Robinson, E. B., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F. K., Smith, G. D., Stefansson, H., Stefansson, K., Steinberg, S., Stevens, C., Sullivan, P. F., Turley, P., Walters, G. B., Xu, X., Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium, BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Me Research Team, Geschwind, D., Nordentoft, M., Hougaard, D. M., Werge, T., Mors, O., Mortensen, P. B., Neale, B. M., Daly, M. J., & Børglum, A. D. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics, 51, 431-444. doi:10.1038/s41588-019-0344-8.

    Abstract

    Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

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  • Guarin, A., Haun, D. B. M., & Messner, D. (2013). Behavioral dimensions of international cooperation. Duisburg: Käte Hamburger Kolleg / Centre for Global Cooperation Research. doi:10.2139/ssrn.2361423.
  • Guest, O., Kanayet, F. J., & Love, B. C. (2019). Gerrymandering and computational redistricting. Journal of Computational Social Science, 2, 119-131. doi:10.1007/s42001-019-00053-9.

    Abstract

    Partisan gerrymandering poses a threat to democracy. Moreover, the complexity of the districting task may exceed human capacities. One potential solution is using computational models to automate the districting process by optimizing objective and open criteria, such as how spatially compact districts are. We formulated one such model that minimised pairwise distance between voters within a district. Using US Census Bureau data, we confirmed our prediction that the difference in compactness between the computed and actual districts would be greatest for states that are large and, therefore, difficult for humans to properly district given their limited capacities. The computed solutions highlighted differences in how humans and machines solve this task with machine solutions more fully optimised and displaying emergent properties not evident in human solutions. These results suggest a division of labour in which humans debate and formulate districting criteria whereas machines optimise the criteria to draw the district boundaries. We discuss how criteria can be expanded beyond notions of compactness to include other factors, such as respecting municipal boundaries, historic communities, and relevant legislation.
  • Gunz, P., Tilot, A. K., Wittfeld, K., Teumer, A., Shapland, C. Y., Van Erp, T. G. M., Dannemann, M., Vernot, B., Neubauer, S., Guadalupe, T., Fernandez, G., Brunner, H., Enard, W., Fallon, J., Hosten, N., Völker, U., Profico, A., Di Vincenzo, F., Manzi, G., Kelso, J. and 7 moreGunz, P., Tilot, A. K., Wittfeld, K., Teumer, A., Shapland, C. Y., Van Erp, T. G. M., Dannemann, M., Vernot, B., Neubauer, S., Guadalupe, T., Fernandez, G., Brunner, H., Enard, W., Fallon, J., Hosten, N., Völker, U., Profico, A., Di Vincenzo, F., Manzi, G., Kelso, J., St Pourcain, B., Hublin, J.-J., Franke, B., Pääbo, S., Macciardi, F., Grabe, H. J., & Fisher, S. E. (2019). Neandertal introgression sheds light on modern human endocranial globularity. Current Biology, 29(1), 120-127. doi:10.1016/j.cub.2018.10.065.

    Abstract

    One of the features that distinguishes modern humans from our extinct relatives
    and ancestors is a globular shape of the braincase [1-4]. As the endocranium
    closely mirrors the outer shape of the brain, these differences might reflect
    altered neural architecture [4,5]. However, in the absence of fossil brain tissue the
    underlying neuroanatomical changes as well as their genetic bases remain
    elusive. To better understand the biological foundations of modern human
    endocranial shape, we turn to our closest extinct relatives, the Neandertals.
    Interbreeding between modern humans and Neandertals has resulted in
    introgressed fragments of Neandertal DNA in the genomes of present-day non-
    Africans [6,7]. Based on shape analyses of fossil skull endocasts, we derive a
    measure of endocranial globularity from structural magnetic resonance imaging
    (MRI) scans of thousands of modern humans, and study the effects of
    introgressed fragments of Neandertal DNA on this phenotype. We find that
    Neandertal alleles on chromosomes 1 and 18 are associated with reduced
    endocranial globularity. These alleles influence expression of two nearby genes,
    UBR4 and PHLPP1, which are involved in neurogenesis and myelination,
    respectively. Our findings show how integration of fossil skull data with archaic
    genomics and neuroimaging can suggest developmental mechanisms that may
    contribute to the unique modern human endocranial shape.

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    mmc1.pdf mmc2.xlsx
  • Hagoort, P. (Ed.). (2019). Human language: From genes and brains to behavior. Cambridge, MA: MIT Press.
  • Hagoort, P. (2013). MUC (Memory, Unification, Control) and beyond. Frontiers in Psychology, 4: 416. doi:10.3389/fpsyg.2013.00416.

    Abstract

    A neurobiological model of language is discussed that overcomes the shortcomings of the classical Wernicke-Lichtheim-Geschwind model. It is based on a subdivision of language processing into three components: Memory, Unification, and Control. The functional components as well as the neurobiological underpinnings of the model are discussed. In addition, the need for extension of the model beyond the classical core regions for language is shown. Attentional networks as well as networks for inferential processing are crucial to realize language comprehension beyond single word processing and beyond decoding propositional content. It is shown that this requires the dynamic interaction between multiple brain regions.
  • Hagoort, P. (2019). The meaning making mechanism(s) behind the eyes and between the ears. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 375: 20190301. doi:10.1098/rstb.2019.0301.

    Abstract

    In this contribution, the following four questions are discussed: (i) where is meaning?; (ii) what is meaning?; (iii) what is the meaning of mechanism?; (iv) what are the mechanisms of meaning? I will argue that meanings are in the head. Meanings have multiple facets, but minimally one needs to make a distinction between single word meanings (lexical meaning) and the meanings of multi-word utterances. The latter ones cannot be retrieved from memory, but need to be constructed on the fly. A mechanistic account of the meaning-making mind requires an analysis at both a functional and a neural level, the reason being that these levels are causally interdependent. I will show that an analysis exclusively focusing on patterns of brain activation lacks explanatory power. Finally, I shall present an initial sketch of how the dynamic interaction between temporo-parietal areas and inferior frontal cortex might instantiate the interpretation of linguistic utterances in the context of a multimodal setting and ongoing discourse information.
  • Hagoort, P. (2019). The neurobiology of language beyond single word processing. Science, 366(6461), 55-58. doi:10.1126/science.aax0289.

    Abstract

    In this Review, I propose a multiple-network view for the neurobiological basis of distinctly human language skills. A much more complex picture of interacting brain areas emerges than in the classical neurobiological model of language. This is because using language is more than single-word processing, and much goes on beyond the information given in the acoustic or orthographic tokens that enter primary sensory cortices. This requires the involvement of multiple networks with functionally nonoverlapping contributions

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  • Hagoort, P., & Meyer, A. S. (2013). What belongs together goes together: the speaker-hearer perspective. A commentary on MacDonald's PDC account. Frontiers in Psychology, 4: 228. doi:10.3389/fpsyg.2013.00228.

    Abstract

    First paragraph:
    MacDonald (2013) proposes that distributional properties of language and processing biases in language comprehension can to a large extent be attributed to consequences of the language production process. In essence, the account is derived from the principle of least effort that was formulated by Zipf, among others (Zipf, 1949; Levelt, 2013). However, in Zipf's view the outcome of the least effort principle was a compromise between least effort for the speaker and least effort for the listener, whereas MacDonald puts most of the burden on the production process.
  • Hall, S., Rumney, L., Holler, J., & Kidd, E. (2013). Associations among play, gesture and early spoken language acquisition. First Language, 33, 294-312. doi:10.1177/0142723713487618.

    Abstract

    The present study investigated the developmental interrelationships between play, gesture use and spoken language development in children aged 18–31 months. The children completed two tasks: (i) a structured measure of pretend (or ‘symbolic’) play and (ii) a measure of vocabulary knowledge in which children have been shown to gesture. Additionally, their productive spoken language knowledge was measured via parental report. The results indicated that symbolic play is positively associated with children’s gesture use, which in turn is positively associated with spoken language knowledge over and above the influence of age. The tripartite relationship between gesture, play and language development is discussed with reference to current developmental theory.
  • Han, J.-I., & Verdonschot, R. G. (2019). Spoken-word production in Korean: A non-word masked priming and phonological Stroop task investigation. Quarterly Journal of Experimental Psychology, 72(4), 901-912. doi:10.1177/1747021818770989.

    Abstract

    Speech production studies have shown that phonological unit initially used to fill the metrical frame during phonological encoding is language specific, that is, a phoneme for English and Dutch, an atonal syllable for Mandarin Chinese, and a mora for Japanese. However, only a few studies chronometrically investigated speech production in Korean, and they obtained mixed results. Korean is particularly interesting as there might be both phonemic and syllabic influences during phonological encoding. The purpose of this study is to further examine the initial phonological preparation unit in Korean, employing a masked priming task (Experiment 1) and a phonological Stroop task (Experiment 2). The results showed that significant onset (and onset-plus, that is, consonant-vowel [CV]) effects were found in both experiments, but there was no compelling evidence for a prominent role for the syllable. When the prime words were presented in three different forms related to the targets, namely, without any change, with re-syllabified codas, and with nasalised codas, there were no significant differences in facilitation among the three forms. Alternatively, it is also possible that participants may not have had sufficient time to process the primes up to the point that re-syllabification or nasalisation could have been carried out. In addition, the results of a Stroop task demonstrated that the onset phoneme effect was not driven by any orthographic influence. These findings suggest that the onset segment and not the syllable is the initial (or proximate) phonological unit used in the segment-to-frame encoding process during speech planning in Korean.

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  • Hanique, I., Aalders, E., & Ernestus, M. (2013). How robust are exemplar effects in word comprehension? The mental lexicon, 8, 269-294. doi:10.1075/ml.8.3.01han.

    Abstract

    This paper studies the robustness of exemplar effects in word comprehension by means of four long-term priming experiments with lexical decision tasks in Dutch. A prime and target represented the same word type and were presented with the same or different degree of reduction. In Experiment 1, participants heard only a small number of trials, a large proportion of repeated words, and stimuli produced by only one speaker. They recognized targets more quickly if these represented the same degree of reduction as their primes, which forms additional evidence for the exemplar effects reported in the literature. Similar effects were found for two speakers who differ in their pronunciations. In Experiment 2, with a smaller proportion of repeated words and more trials between prime and target, participants recognized targets preceded by primes with the same or a different degree of reduction equally quickly. Also, in Experiments 3 and 4, in which listeners were not exposed to one but two types of pronunciation variation (reduction degree and speaker voice), no exemplar effects arose. We conclude that the role of exemplars in speech comprehension during natural conversations, which typically involve several speakers and few repeated content words, may be smaller than previously assumed.
  • Hanique, I., Ernestus, M., & Schuppler, B. (2013). Informal speech processes can be categorical in nature, even if they affect many different words. Journal of the Acoustical Society of America, 133, 1644-1655. doi:10.1121/1.4790352.

    Abstract

    This paper investigates the nature of reduction phenomena in informal speech. It addresses the question whether reduction processes that affect many word types, but only if they occur in connected informal speech, may be categorical in nature. The focus is on reduction of schwa in the prefixes and on word-final /t/ in Dutch past participles. More than 2000 tokens of past participles from the Ernestus Corpus of Spontaneous Dutch and the Spoken Dutch Corpus (both from the interview and read speech component) were transcribed automatically. The results demonstrate that the presence and duration of /t/ are affected by approximately the same phonetic variables, indicating that the absence of /t/ is the extreme result of shortening, and thus results from a gradient reduction process. Also for schwa, the data show that mainly phonetic variables influence its reduction, but its presence is affected by different and more variables than its duration, which suggests that the absence of schwa may result from gradient as well as categorical processes. These conclusions are supported by the distributions of the segments’ durations. These findings provide evidence that reduction phenomena which affect many words in informal conversations may also result from categorical reduction processes.
  • Harmon, Z., Idemaru, K., & Kapatsinski, V. (2019). Learning mechanisms in cue reweighting. Cognition, 189, 76-88. doi:10.1016/j.cognition.2019.03.011.

    Abstract

    Feedback has been shown to be effective in shifting attention across perceptual cues to a phonological contrast in speech perception (Francis, Baldwin & Nusbaum, 2000). However, the learning mechanisms behind this process remain obscure. We compare the predictions of supervised error-driven learning (Rescorla & Wagner, 1972) and reinforcement learning (Sutton & Barto, 1998) using computational simulations. Supervised learning predicts downweighting of an informative cue when the learner receives evidence that it is no longer informative. In contrast, reinforcement learning suggests that a reduction in cue weight requires positive evidence for the informativeness of an alternative cue. Experimental evidence supports the latter prediction, implicating reinforcement learning as the mechanism behind the effect of feedback on cue weighting in speech perception. Native English listeners were exposed to either bimodal or unimodal VOT distributions spanning the unaspirated/aspirated boundary (bear/pear). VOT is the primary cue to initial stop voicing in English. However, lexical feedback in training indicated that VOT was no longer predictive of voicing. Reduction in the weight of VOT was observed only when participants could use an alternative cue, F0, to predict voicing. Frequency distributions had no effect on learning. Overall, the results suggest that attention shifting in learning the phonetic cues to phonological categories is accomplished using simple reinforcement learning principles that also guide the choice of actions in other domains.
  • Harneit, A., Braun, U., Geiger, L. S., Zang, Z., Hakobjan, M., Van Donkelaar, M. M. J., Schweiger, J. I., Schwarz, K., Gan, G., Erk, S., Heinz, A., Romanczuk‐Seiferth, N., Witt, S., Rietschel, M., Walter, H., Franke, B., Meyer‐Lindenberg, A., & Tost, H. (2019). MAOA-VNTR genotype affects structural and functional connectivity in distributed brain networks. Human Brain Mapping, 40(18), 5202-5212. doi:10.1002/hbm.24766.

    Abstract

    Previous studies have linked the low expression variant of a variable number of tandem repeat polymorphism in the monoamine oxidase A gene (MAOA‐L) to the risk for impulsivity and aggression, brain developmental abnormalities, altered cortico‐limbic circuit function, and an exaggerated neural serotonergic tone. However, the neurobiological effects of this variant on human brain network architecture are incompletely understood. We studied healthy individuals and used multimodal neuroimaging (sample size range: 219–284 across modalities) and network‐based statistics (NBS) to probe the specificity of MAOA‐L‐related connectomic alterations to cortical‐limbic circuits and the emotion processing domain. We assessed the spatial distribution of affected links across several neuroimaging tasks and data modalities to identify potential alterations in network architecture. Our results revealed a distributed network of node links with a significantly increased connectivity in MAOA‐L carriers compared to the carriers of the high expression (H) variant. The hyperconnectivity phenotype primarily consisted of between‐lobe (“anisocoupled”) network links and showed a pronounced involvement of frontal‐temporal connections. Hyperconnectivity was observed across functional magnetic resonance imaging (fMRI) of implicit emotion processing (pFWE = .037), resting‐state fMRI (pFWE = .022), and diffusion tensor imaging (pFWE = .044) data, while no effects were seen in fMRI data of another cognitive domain, that is, spatial working memory (pFWE = .540). These observations are in line with prior research on the MAOA‐L variant and complement these existing data by novel insights into the specificity and spatial distribution of the neurogenetic effects. Our work highlights the value of multimodal network connectomic approaches for imaging genetics.
  • Haun, D. B. M., & Wertenbruch, M. (2013). Forschungen und Entwicklungen zum Konzept der Ehre als Potential für Konflikte zwischen Kulturen bzw. als Hindernis für Integration. Wien: Österreichischen Integrationsfonds.
  • Haun, D. B. M., Van Leeuwen, E. J. C., & Edelson, M. G. (2013). Majority influence in children and other animals. Developmental Cognitive Neuroscience, 3, 61-71. doi:10.1016/j.dcn.2012.09.003.

    Abstract

    We here review existing evidence for majority influences in children under the age of ten years and comparable studies with animals ranging from fish to apes. Throughout the review, we structure the discussion surrounding majority influences by differentiating the behaviour of individuals in the presence of a majority and the underlying mechanisms and motivations. Most of the relevant research to date in both developmental psychology and comparative psychology has focused on the behavioural outcomes, where a multitude of mechanisms could be at play. We further propose that interpreting cross-species differences in behavioural patterns is difficult without considering the psychology of the individual. Some attempts at this have been made both in developmental psychology and comparative psychology. We propose that physiological measures should be used to subsidize behavioural studies in an attempt to understand the composition of mechanisms and motivations underlying majority influence. We synthesize the relevant evidence on human brain function in order to provide a framework for future investigation in this area. In addition to streamlining future research efforts, we aim to create a conceptual platform for productive exchanges across the related disciplines of developmental and comparative psychology.
  • Haworth, S., Shapland, C. Y., Hayward, C., Prins, B. P., Felix, J. F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T. S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J. L., Sass, L. and 15 moreHaworth, S., Shapland, C. Y., Hayward, C., Prins, B. P., Felix, J. F., Medina-Gomez, C., Rivadeneira, F., Wang, C., Ahluwalia, T. S., Vrijheid, M., Guxens, M., Sunyer, J., Tachmazidou, I., Walter, K., Iotchkova, V., Jackson, A., Cleal, L., Huffmann, J., Min, J. L., Sass, L., Timmers, P. R. H. J., UK10K consortium, Davey Smith, G., Fisher, S. E., Wilson, J. F., Cole, T. J., Fernandez-Orth, D., Bønnelykke, K., Bisgaard, H., Pennell, C. E., Jaddoe, V. W. V., Dedoussis, G., Timpson, N. J., Zeggini, E., Vitart, V., & St Pourcain, B. (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications, 10: 357. doi:10.1038/s41467-018-07863-x.

    Abstract

    Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences affecting these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic influences and low-frequency genetic variation. To understand these influences, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants of ICV. Investigating up to 46,000 children and adults of European descent, we identify association with final HC and/or final ICV+HC at 9 novel common and low-frequency loci, illustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth. The largest effects are reported for low-frequency variants within TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.

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  • Heidlmayr, K., Moutier, S., Hemforth, B., Courtin, C., Tanzmeister, R., & Isel, F. (2013). Successive bilingualism and executive functions: The effect of second language use on inhibitory control in a behavioural Stroop Colour Wordtask. Bilingualism: Language and Cognition, 17(3), 630-645. doi:dx.doi.org/10.1017/S1366728913000539.

    Abstract

    Here we examined the role of bilingualism on cognitive inhibition using the Stroop Colour Word task. Our hypothesis was that the frequency of use of a second language (L2) in the daily life of successive bilingual individuals impacts the efficiency of their inhibitory control mechanism. Thirty-three highly proficient successive French–German bilinguals, living either in a French or in a German linguistic environment, performed a Stroop task on both French and German words. Moreover, 31 French monolingual individuals were also tested with French words. We showed that the bilingual advantage was (i) reinforced by the use of a third language, and (ii) modulated by the duration of immersion in a second language environment. This suggests that top–down inhibitory control is most involved at the beginning of immersion. Taken together, the present findings lend support to the psycholinguistic models of bilingual language processing that postulate that top–down active inhibition is involved in language control.
  • Hervais-Adelman, A., Kumar, U., Mishra, R. K., Tripathi, V. N., Guleria, A., Singh, J. P., Eisner, F., & Huettig, F. (2019). Learning to read recycles visual cortical networks without destruction. Science Advances, 5(9): eaax0262. doi:10.1126/sciadv.aax0262.

    Abstract

    Learning to read is associated with the appearance of an orthographically sensitive brain region known as the visual word form area. It has been claimed that development of this area proceeds by impinging upon territory otherwise available for the processing of culturally relevant stimuli such as faces and houses. In a large-scale functional magnetic resonance imaging study of a group of individuals of varying degrees of literacy (from completely illiterate to highly literate), we examined cortical responses to orthographic and nonorthographic visual stimuli. We found that literacy enhances responses to other visual input in early visual areas and enhances representational similarity between text and faces, without reducing the extent of response to nonorthographic input. Thus, acquisition of literacy in childhood recycles existing object representation mechanisms but without destructive competition.

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    aax0262_SM.pdf
  • Heyselaar, E., & Segaert, K. (2019). Memory encoding of syntactic information involves domain-general attentional resources. Evidence from dual-task studies. Quarterly Journal of Experimental Psychology, 72(6), 1285-1296. doi:10.1177/1747021818801249.

    Abstract

    We investigate the type of attention (domain-general or language-specific) used during
    syntactic processing. We focus on syntactic priming: In this task, participants listen to a
    sentence that describes a picture (prime sentence), followed by a picture the participants need
    to describe (target sentence). We measure the proportion of times participants use the
    syntactic structure they heard in the prime sentence to describe the current target sentence as a
    measure of syntactic processing. Participants simultaneously conducted a motion-object
    tracking (MOT) task, a task commonly used to tax domain-general attentional resources. We
    manipulated the number of objects the participant had to track; we thus measured
    participants’ ability to process syntax while their attention is not-, slightly-, or overly-taxed.
    Performance in the MOT task was significantly worse when conducted as a dual-task
    compared to as a single task. We observed an inverted U-shaped curve on priming magnitude
    when conducting the MOT task concurrently with prime sentences (i.e., memory encoding),
    but no effect when conducted with target sentences (i.e., memory retrieval). Our results
    illustrate how, during the encoding of syntactic information, domain-general attention
    differentially affects syntactic processing, whereas during the retrieval of syntactic
    information domain-general attention does not influence syntactic processing
  • Hilbrink, E., Sakkalou, E., Ellis-Davies, K., Fowler, N., & Gattis, M. (2013). Selective and faithful imitation at 12 and 15 months. Developmental Science., 16(6), 828-840. doi:10.1111/desc.12070.

    Abstract

    Research on imitation in infancy has primarily focused on what and when infants imitate. More recently, however, the question why infants imitate has received renewed attention, partly motivated by the finding that infants sometimes selectively imitate the actions of others and sometimes faithfully imitate, or overimitate, the actions of others. The present study evaluates the hypothesis that this varying imitative behavior is related to infants' social traits. To do so, we assessed faithful and selective imitation longitudinally at 12 and 15 months, and extraversion at 15 months. At both ages, selective imitation was dependent on the causal structure of the act. From 12 to 15 months, selective imitation decreased while faithful imitation increased. Furthermore, infants high in extraversion were more faithful imitators than infants low in extraversion. These results demonstrate that the onset of faithful imitation is earlier than previously thought, but later than the onset of selective imitation. The observed relation between extraversion and faithful imitation supports the hypothesis that faithful imitation is driven by the social motivations of the infant. We call this relation the King Louie Effect: like the orangutan King Louie in The Jungle Book, infants imitate faithfully due to a growing interest in the interpersonal nature of interactions.
  • Hinds, D. A., McMahon, G., Kiefer, A. K., Do, C. B., Eriksson, N., Evans, D. M., St Pourcain, B., Ring, S. M., Mountain, J. L., Francke, U., Davey-Smith, G., Timpson, N. J., & Tung, J. Y. (2013). A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat Genet, 45(8), 907-911. doi:10.1038/ng.2686.

    Abstract

    Allergic disease is very common and carries substantial public-health burdens. We conducted a meta-analysis of genome-wide associations with self-reported cat, dust-mite and pollen allergies in 53,862 individuals. We used generalized estimating equations to model shared and allergy-specific genetic effects. We identified 16 shared susceptibility loci with association P<5×10(-8), including 8 loci previously associated with asthma, as well as 4p14 near TLR1, TLR6 and TLR10 (rs2101521, P=5.3×10(-21)); 6p21.33 near HLA-C and MICA (rs9266772, P=3.2×10(-12)); 5p13.1 near PTGER4 (rs7720838, P=8.2×10(-11)); 2q33.1 in PLCL1 (rs10497813, P=6.1×10(-10)), 3q28 in LPP (rs9860547, P=1.2×10(-9)); 20q13.2 in NFATC2 (rs6021270, P=6.9×10(-9)), 4q27 in ADAD1 (rs17388568, P=3.9×10(-8)); and 14q21.1 near FOXA1 and TTC6 (rs1998359, P=4.8×10(-8)). We identified one locus with substantial evidence of differences in effects across allergies at 6p21.32 in the class II human leukocyte antigen (HLA) region (rs17533090, P=1.7×10(-12)), which was strongly associated with cat allergy. Our study sheds new light on the shared etiology of immune and autoimmune disease.
  • Hoedemaker, R. S., & Meyer, A. S. (2019). Planning and coordination of utterances in a joint naming task. Journal of Experimental Psychology: Learning, Memory, and Cognition, 45(4), 732-752. doi:10.1037/xlm0000603.

    Abstract

    Dialogue requires speakers to coordinate. According to the model of dialogue as joint action, interlocutors achieve this coordination by corepresenting their own and each other’s task share in a functionally equivalent manner. In two experiments, we investigated this corepresentation account using an interactive joint naming task in which pairs of participants took turns naming sets of objects on a shared display. Speaker A named the first, or the first and third object, and Speaker B named the second object. In control conditions, Speaker A named one, two, or all three objects and Speaker B remained silent. We recorded the timing of the speakers’ utterances and Speaker A’s eye movements. Interturn pause durations indicated that the speakers effectively coordinated their utterances in time. Speaker A’s speech onset latencies depended on the number of objects they named, but were unaffected by Speaker B’s naming task. This suggests speakers were not fully incorporating their partner’s task into their own speech planning. Moreover, Speaker A’s eye movements indicated that they were much less likely to attend to objects their partner named than to objects they named themselves. When speakers did inspect their partner’s objects, viewing times were too short to suggest that speakers were retrieving these object names as if they were planning to name the objects themselves. These results indicate that speakers prioritized planning their own responses over attending to their interlocutor’s task and suggest that effective coordination can be achieved without full corepresentation of the partner’s task.
  • Hofmeister, P., & Norcliffe, E. (Eds.). (2013). The core and the periphery: Data-driven perspectives on syntax inspired by Ivan A. Sag. Stanford, CA: CSLI publications.

    Abstract

    This book is a collection of papers inspired by the linguistics career of Ivan Sag, written to celebrate his many contributions to the field. Ivan has been a professor of linguistics at Stanford University since 1979, has been the directory of the Symbolic Systems program (2005-2009), has authored, co-authored, or edited fifteen volumes in linguistics, and has been at the forefront of non-transformational approaches to syntax. Reflecting the breath of Ivan's theoretical interests and approaches to linguistic problems, the papers here tackle a range of grammar-related issues using corpora, intuitions, and laboratory experiments. They are united by their use of and commitment to rich datasets and the shared perspective that the best theories of grammar attempt to account for the full diversity and complexity of language data.
  • Holler, J., & Levinson, S. C. (2019). Multimodal language processing in human communication. Trends in Cognitive Sciences, 23(8), 639-652. doi:10.1016/j.tics.2019.05.006.

    Abstract

    Multiple layers of visual (and vocal) signals, plus their different onsets and offsets, represent a significant semantic and temporal binding problem during face-to-face conversation.
    Despite this complex unification process, multimodal messages appear to be processed faster than unimodal messages.

    Multimodal gestalt recognition and multilevel prediction are proposed to play a crucial role in facilitating multimodal language processing.

    The basis of the processing mechanisms involved in multimodal language comprehension is hypothesized to be domain general, coopted for communication, and refined with domain-specific characteristics.
    A new, situated framework for understanding human language processing is called for that takes into consideration the multilayered, multimodal nature of language and its production and comprehension in conversational interaction requiring fast processing.
  • Holler, J., Turner, K., & Varcianna, T. (2013). It's on the tip of my fingers: Co-speech gestures during lexical retrieval in different social contexts. Language and Cognitive Processes, 28(10), 1509-1518. doi:10.1080/01690965.2012.698289.

    Abstract

    The Lexical Retrieval Hypothesis proposes that gestures function at the level of speech production, aiding in the retrieval of lexical items from the mental lexicon. However, empirical evidence for this account is mixed, and some critics argue that a more likely function of gestures during lexical retrieval is a communicative one. The present study was designed to test these predictions against each other by keeping lexical retrieval difficulty constant while varying social context. Participants' gestures were analysed during tip of the tongue experiences when communicating with a partner face-to-face (FTF), while being separated by a screen, or on their own by speaking into a voice recorder. The results show that participants in the FTF context produced significantly more representational gestures than participants in the solitary condition. This suggests that, even in the specific context of lexical retrieval difficulties, representational gestures appear to play predominantly a communicative role.

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  • Hömke, P., Majid, A., & Boroditsky, L. (2013). Reversing the direction of time: Does the visibility of spatial representations of time shape temporal focus? Proceedings of the Master's Program Cognitive Neuroscience, 8(1), 40-54. Retrieved from http://www.ru.nl/master/cns/journal/archive/volume-8-issue-1/print-edition/.

    Abstract

    While people around the world mentally represent time in terms of space, there is substantial cross-cultural
    variability regarding which temporal constructs are mapped onto which parts in space. Do particular spatial
    layouts of time – as expressed through metaphors in language – shape temporal focus? We trained native
    English speakers to use spatiotemporal metaphors in a way such that the flow of time is reversed, representing
    the future behind the body (out of visible space) and the past ahead of the body (within visible space). In a
    task measuring perceived relevance of past events, people considered past events and present (or immediate
    past) events to be more relevant after using the reversed metaphors compared to a control group that used canonical metaphors spatializing the past behind and the future ahead of the body (Experiment 1). In a control measure in which temporal information was removed, this effect disappeared (Experiment 2). Taken
    together, these findings suggest that the degree to which people focus on the past may be shaped by the
    visibility of the past in spatiotemporal metaphors used in language.
  • Hoogman, M., Onnink, M., Coolen, R., Aarts, E., Kan, C., Arias Vasquez, A., Buitelaar, J., & Franke, B. (2013). The dopamine transporter haplotype and reward-related striatal responses in adult ADHD. European Neuropsychopharmacology, 23, 469-478. doi:10.1016/j.euroneuro.2012.05.011.

    Abstract

    Attention deficit/hyperactivity disorder (ADHD) is a highly heritable disorder and several genes increasing disease risk have been identified. The dopamine transporter gene, SLC6A3/DAT1, has been studied most extensively in ADHD research. Interestingly, a different haplotype of this gene (formed by genetic variants in the 3' untranslated region and intron 8) is associated with childhood ADHD (haplotype 10-6) and adult ADHD (haplotype 9-6). The expression of DAT1 is highest in striatal regions in the brain. This part of the brain is of interest to ADHD because of its role in reward processing is altered in ADHD patients; ADHD patients display decreased striatal activation during reward processing. To better understand how the DAT1 gene exerts effects on ADHD, we studied the effect of this gene on reward-related brain functioning in the area of its highest expression in the brain, the striatum, using functional magnetic resonance imaging. In doing so, we tried to resolve inconsistencies observed in previous studies of healthy individuals and ADHD-affected children. In a sample of 87 adult ADHD patients and 77 healthy comparison subjects, we confirmed the association of the 9-6 haplotype with adult ADHD. Striatal hypoactivation during the reward anticipation phase of a monetary incentive delay task in ADHD patients was again shown, but no significant effects of DAT1 on striatal activity were found. Although the importance of the DAT1 haplotype as a risk factor for adult ADHD was again demonstrated in this study, the mechanism by which this gene increases disease risk remains largely unknown.

    Additional information

    mmc1.zip
  • Hörpel, S. G., & Firzlaff, U. (2019). Processing of fast amplitude modulations in bat auditory cortex matches communication call-specific sound features. Journal of Neurophysiology, 121(4), 1501-1512. doi:10.1152/jn.00748.2018.
  • Howe, L., Lawson, D. J., Davies, N. M., St Pourcain, B., Lewis, S. J., Smith, G. D., & Hemani, G. (2019). Genetic evidence for assortative mating on alcohol consumption in the UK Biobank. Nature Communications, 10: 5039. doi:10.1038/s41467-019-12424-x.

    Abstract

    Alcohol use is correlated within spouse-pairs, but it is difficult to disentangle effects of alcohol consumption on mate-selection from social factors or the shared spousal environment. We hypothesised that genetic variants related to alcohol consumption may, via their effect on alcohol behaviour, influence mate selection. Here, we find strong evidence that an individual’s self-reported alcohol consumption and their genotype at rs1229984, a missense variant in ADH1B, are associated with their partner’s self-reported alcohol use. Applying Mendelian randomization, we estimate that a unit increase in an individual’s weekly alcohol consumption increases partner’s alcohol consumption by 0.26 units (95% C.I. 0.15, 0.38; P = 8.20 × 10−6). Furthermore, we find evidence of spousal genotypic concordance for rs1229984, suggesting that spousal concordance for alcohol consumption existed prior to cohabitation. Although the SNP is strongly associated with ancestry, our results suggest some concordance independent of population stratification. Our findings suggest that alcohol behaviour directly influences mate selection.
  • Howe, L. J., Richardson, T. G., Arathimos, R., Alvizi, L., Passos-Bueno, M. R., Stanier, P., Nohr, E., Ludwig, K. U., Mangold, E., Knapp, M., Stergiakouli, E., St Pourcain, B., Smith, G. D., Sandy, J., Relton, C. L., Lewis, S. J., Hemani, G., & Sharp, G. C. (2019). Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. Epigenomics, 11(2), 133-145. doi:10.2217/epi-2018-0091.

    Abstract

    Aim: To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation. Materials & methods: nsCL/P genetic summary data and methylation data from four studies were used in conjunction with Mendelian randomization and joint likelihood mapping to investigate potential mediation of nsCL/P genetic variants. Results & conclusion: Evidence was found at VAX1 (10q25.3), LOC146880 (17q23.3) and NTN1 (17p13.1), that liability to nsCL/P and variation in DNA methylation might be driven by the same genetic variant, suggesting that genetic variation at these loci may increase liability to nsCL/P by influencing DNA methylation. Follow-up analyses using different tissues and gene expression data provided further insight into possible biological mechanisms.

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    Supplementary material
  • Hubbard, R. J., Rommers, J., Jacobs, C. L., & Federmeier, K. D. (2019). Downstream behavioral and electrophysiological consequences of word prediction on recognition memory. Frontiers in Human Neuroscience, 13: 291. doi:10.3389/fnhum.2019.00291.

    Abstract

    When people process language, they can use context to predict upcoming information,
    influencing processing and comprehension as seen in both behavioral and neural
    measures. Although numerous studies have shown immediate facilitative effects
    of confirmed predictions, the downstream consequences of prediction have been
    less explored. In the current study, we examined those consequences by probing
    participants’ recognition memory for words after they read sets of sentences.
    Participants read strongly and weakly constraining sentences with expected or
    unexpected endings (“I added my name to the list/basket”), and later were tested on
    their memory for the sentence endings while EEG was recorded. Critically, the memory
    test contained words that were predictable (“list”) but were never read (participants
    saw “basket”). Behaviorally, participants showed successful discrimination between old
    and new items, but false alarmed to the expected-item lures more often than to new
    items, showing that predicted words or concepts can linger, even when predictions
    are disconfirmed. Although false alarm rates did not differ by constraint, event-related
    potentials (ERPs) differed between false alarms to strongly and weakly predictable words.
    Additionally, previously unexpected (compared to previously expected) endings that
    appeared on the memory test elicited larger N1 and LPC amplitudes, suggesting greater
    attention and episodic recollection. In contrast, highly predictable sentence endings that
    had been read elicited reduced LPC amplitudes during the memory test. Thus, prediction
    can facilitate processing in the moment, but can also lead to false memory and reduced
    recollection for predictable information.
  • Hubers, F., Cucchiarini, C., Strik, H., & Dijkstra, T. (2019). Normative data of Dutch idiomatic expressions: Subjective judgments you can bank on. Frontiers in Psychology, 10: 1075. doi:10.3389/fpsyg.2019.01075.

    Abstract

    The processing of idiomatic expressions is a topical issue in empirical research. Various factors have been found to influence idiom processing, such as idiom familiarity and idiom transparency. Information on these variables is usually obtained through norming studies. Studies investigating the effect of various properties on idiom processing have led to ambiguous results. This may be due to the variability of operationalizations of the idiom properties across norming studies, which in turn may affect the reliability of the subjective judgements. However, not all studies that collected normative data on idiomatic expressions investigated their reliability, and studies that did address the reliability of subjective ratings used various measures and produced mixed results. In this study, we investigated the reliability of subjective judgements, the relation between subjective and objective idiom frequency, and the impact of these dimensions on the participants’ idiom knowledge by collecting normative data of five subjective idiom properties (Frequency of Exposure, Meaning Familiarity, Frequency of Usage, Transparency, and Imageability) from 390 native speakers and objective corpus frequency for 374 Dutch idiomatic expressions. For reliability, we compared measures calculated in previous studies, with the D-coefficient, a metric taken from Generalizability Theory. High reliability was found for all subjective dimensions. One reliability metric, Krippendorff’s alpha, generally produced lower values, while similar values were obtained for three other measures (Cronbach’s alpha, Intraclass Correlation Coefficient, and the D-coefficient). Advantages of the D-coefficient are that it can be applied to unbalanced research designs, and to estimate the minimum number of raters required to obtain reliable ratings. Slightly higher coefficients were observed for so-called experience-based dimensions (Frequency of Exposure, Meaning Familiarity, and Frequency of Usage) than for content-based dimensions (Transparency and Imageability). In addition, fewer raters were required to obtain reliable ratings for the experience-based dimensions. Subjective and objective frequency appeared to be poorly correlated, while all subjective idiom properties and objective frequency turned out to affect idiom knowledge. Meaning Familiarity, Subjective and Objective Frequency of Exposure, Frequency of Usage, and Transparency positively contributed to idiom knowledge, while a negative effect was found for Imageability. We discuss these relationships in more detail, and give methodological recommendations with respect to the procedures and the measure to calculate reliability.

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  • Huettig, F., & Pickering, M. (2019). Literacy advantages beyond reading: Prediction of spoken language. Trends in Cognitive Sciences, 23(6), 464-475. doi:10.1016/j.tics.2019.03.008.

    Abstract

    Literacy has many obvious benefits—it exposes the reader to a wealth of new information and enhances syntactic knowledge. However, we argue that literacy has an additional, often overlooked, benefit: it enhances people’s ability to predict spoken language thereby aiding comprehension. Readers are under pressure to process information more quickly than listeners, and reading provides excellent conditions, in particular a stable environment, for training the predictive system. It also leads to increased awareness of words as linguistic units, and more fine-grained phonological and additional orthographic representations, which sharpen lexical representations and facilitate predicted representations to be retrieved. Thus, reading trains core processes and representations involved in language prediction that are common to both reading and listening.
  • Huettig, F., & Guerra, E. (2019). Effects of speech rate, preview time of visual context, and participant instructions reveal strong limits on prediction in language processing. Brain Research, 1706, 196-208. doi:10.1016/j.brainres.2018.11.013.

    Abstract

    There is a consensus among language researchers that people can predict upcoming language. But do people always predict when comprehending language? Notions that “brains … are essentially prediction machines” certainly suggest so. In three eye-tracking experiments we tested this view. Participants listened to simple Dutch sentences (‘Look at the displayed bicycle’) while viewing four objects (a target, e.g. a bicycle, and three unrelated distractors). We used the identical visual stimuli and the same spoken sentences but varied speech rates, preview time, and participant instructions. Target nouns were preceded by definite gender-marked determiners, which allowed participants to predict the target object because only the targets but not the distractors agreed in gender with the determiner. In Experiment 1, participants had four seconds preview and sentences were presented either in a slow or a normal speech rate. Participants predicted the targets as soon as they heard the determiner in both conditions. Experiment 2 was identical except that participants were given only a one second preview. Participants predicted the targets only in the slow speech condition. Experiment 3 was identical to Experiment 2 except that participants were explicitly told to predict. This led only to a small prediction effect in the normal speech condition. Thus, a normal speech rate only afforded prediction if participants had an extensive preview. Even the explicit instruction to predict the target resulted in only a small anticipation effect with a normal speech rate and a short preview. These findings are problematic for theoretical proposals that assume that prediction pervades cognition.
  • Huisman, J. L. A., Majid, A., & Van Hout, R. (2019). The geographical configuration of a language area influences linguistic diversity. PLoS One, 14(6): e0217363. doi:10.1371/journal.pone.0217363.

    Abstract

    Like the transfer of genetic variation through gene flow, language changes constantly as a result of its use in human interaction. Contact between speakers is most likely to happen when they are close in space, time, and social setting. Here, we investigated the role of geographical configuration in this process by studying linguistic diversity in Japan, which comprises a large connected mainland (less isolation, more potential contact) and smaller island clusters of the Ryukyuan archipelago (more isolation, less potential contact). We quantified linguistic diversity using dialectometric methods, and performed regression analyses to assess the extent to which distance in space and time predict contemporary linguistic diversity. We found that language diversity in general increases as geographic distance increases and as time passes—as with biodiversity. Moreover, we found that (I) for mainland languages, linguistic diversity is most strongly related to geographic distance—a so-called isolation-by-distance pattern, and that (II) for island languages, linguistic diversity reflects the time since varieties separated and diverged—an isolation-by-colonisation pattern. Together, these results confirm previous findings that (linguistic) diversity is shaped by distance, but also goes beyond this by demonstrating the critical role of geographic configuration.
  • Hulten, A., Schoffelen, J.-M., Udden, J., Lam, N. H. L., & Hagoort, P. (2019). How the brain makes sense beyond the processing of single words – An MEG study. NeuroImage, 186, 586-594. doi:10.1016/j.neuroimage.2018.11.035.

    Abstract

    Human language processing involves combinatorial operations that make human communication stand out in the animal kingdom. These operations rely on a dynamic interplay between the inferior frontal and the posterior temporal cortices. Using source reconstructed magnetoencephalography, we tracked language processing in the brain, in order to investigate how individual words are interpreted when part of sentence context. The large sample size in this study (n = 68) allowed us to assess how event-related activity is associated across distinct cortical areas, by means of inter-areal co-modulation within an individual. We showed that, within 500 ms of seeing a word, the word's lexical information has been retrieved and unified with the sentence context. This does not happen in a strictly feed-forward manner, but by means of co-modulation between the left posterior temporal cortex (LPTC) and left inferior frontal cortex (LIFC), for each individual word. The co-modulation of LIFC and LPTC occurs around 400 ms after the onset of each word, across the progression of a sentence. Moreover, these core language areas are supported early on by the attentional network. The results provide a detailed description of the temporal orchestration related to single word processing in the context of ongoing language.

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    1-s2.0-S1053811918321165-mmc1.pdf
  • Hustá, C., Dalmaijer, E., Belopolsky, A., & Mathôt, S. (2019). The pupillary light response reflects visual working memory content. Journal of Experimental Psychology: Human Perception and Performance, 45(11), 1522-1528. doi:10.1037/xhp0000689.

    Abstract

    Recent studies have shown that the pupillary light response (PLR) is modulated by higher cognitive functions, presumably through activity in visual sensory brain areas. Here we use the PLR to test the involvement of sensory areas in visual working memory (VWM). In two experiments, participants memorized either bright or dark stimuli. We found that pupils were smaller when a prestimulus cue indicated that a bright stimulus should be memorized; this reflects a covert shift of attention during encoding of items into VWM. Crucially, we obtained the same result with a poststimulus cue, which shows that internal shifts of attention within VWM affect pupil size as well. Strikingly, the effect of VWM content on pupil size was most pronounced immediately after the poststimulus cue, and then dissipated. This suggests that a shift of attention within VWM momentarily activates an "active" memory representation, but that this representation quickly transforms into a "hidden" state that does not rely on sensory areas.

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  • Iacozza, S., Meyer, A. S., & Lev-Ari, S. (2019). How in-group bias influences source memory for words learned from in-group and out-group speakers. Frontiers in Human Neuroscience, 13: 308. doi:10.3389/fnhum.2019.00308.

    Abstract

    Individuals rapidly extract information about others’ social identity, including whether or not they belong to their in-group. Group membership status has been shown to affect how attentively people encode information conveyed by those others. These findings are highly relevant for the field of psycholinguistics where there exists an open debate on how words are represented in the mental lexicon and how abstract or context-specific these representations are. Here, we used a novel word learning paradigm to test our proposal that the group membership status of speakers also affects how speaker-specific representations of novel words are. Participants learned new words from speakers who either attended their own university (in-group speakers) or did not (out-group speakers) and performed a task to measure their individual in-group bias. Then, their source memory of the new words was tested in a recognition test to probe the speaker-specific content of the novel lexical representations and assess how it related to individual in-group biases. We found that speaker group membership and participants’ in-group bias affected participants’ decision biases. The stronger the in-group bias, the more cautious participants were in their decisions. This was particularly applied to in-group related decisions. These findings indicate that social biases can influence recognition threshold. Taking a broader scope, defining how information is represented is a topic of great overlap between the fields of memory and psycholinguistics. Nevertheless, researchers from these fields tend to stay within the theoretical and methodological borders of their own field, missing the chance to deepen their understanding of phenomena that are of common interest. Here we show how methodologies developed in the memory field can be implemented in language research to shed light on an important theoretical issue that relates to the composition of lexical representations.

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  • Ioumpa, K., Graham, S. A., Clausner, T., Fisher, S. E., Van Lier, R., & Van Leeuwen, T. M. (2019). Enhanced self-reported affect and prosocial behaviour without differential physiological responses in mirror-sensory synaesthesia. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 374: 20190395. doi:10.1098/rstb.2019.0395.

    Abstract

    Mirror-sensory synaesthetes mirror the pain or touch that they observe in other people on their own bodies. This type of synaesthesia has been associated with enhanced empathy. We investigated whether the enhanced empathy of people with mirror-sensory synesthesia influences the experience of situations involving touch or pain and whether it affects their prosocial decision making. Mirror-sensory synaesthetes (N = 18, all female), verified with a touch-interference paradigm, were compared with a similar number of age-matched control individuals (all female). Participants viewed arousing images depicting pain or touch; we recorded subjective valence and arousal ratings, and physiological responses, hypothesizing more extreme reactions in synaesthetes. The subjective impact of positive and negative images was stronger in synaesthetes than in control participants; the stronger the reported synaesthesia, the more extreme the picture ratings. However, there was no evidence for differential physiological or hormonal responses to arousing pictures. Prosocial decision making was assessed with an economic game assessing altruism, in which participants had to divide money between themselves and a second player. Mirror-sensory synaesthetes donated more money than non-synaesthetes, showing enhanced prosocial behaviour, and also scored higher on the Interpersonal Reactivity Index as a measure of empathy. Our study demonstrates the subjective impact of mirror-sensory synaesthesia and its stimulating influence on prosocial behaviour.

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  • Iyer, S., Sam, F. S., DiPrimio, N., Preston, G., Verheijen, J., Murthy, K., Parton, Z., Tsang, H., Lao, J., Morava, E., & Perlstein, E. O. (2019). Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG. Disease models & mechanisms, 12(11): UNSP dmm040584. doi:10.1242/dmm.040584.

    Abstract

    Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG. To identify clinically actionable compounds that boost human PMM2 enzyme function, we performed a multispecies drug repurposing screen using a novel worm model of PMM2-CDG, followed by PMM2 enzyme functional studies in PMM2-CDG patient fibroblasts. Drug repurposing candidates from this study, and drug repurposing candidates from a previously published study using yeast models of PMM2-CDG, were tested for their effect on human PMM2 enzyme activity in PMM2-CDG fibroblasts. Of the 20 repurposing candidates discovered in the worm-based phenotypic screen, 12 were plant-based polyphenols. Insights from structure-activity relationships revealed epalrestat, the only antidiabetic aldose reductase inhibitor approved for use in humans, as a first-in-class PMM2 enzyme activator. Epalrestat increased PMM2 enzymatic activity in four PMM2-CDG patient fibroblast lines with genotypes R141H/F119L, R141H/E139K, R141H/N216I and R141H/F183S. PMM2 enzyme activity gains ranged from 30% to 400% over baseline, depending on genotype. Pharmacological inhibition of aldose reductase by epalrestat may shunt glucose from the polyol pathway to glucose-1,6-bisphosphate, which is an endogenous stabilizer and coactivator of PMM2 homodimerization. Epalrestat is a safe, oral and brain penetrant drug that was approved 27 years ago in Japan to treat diabetic neuropathy in geriatric populations. We demonstrate that epalrestat is the first small molecule activator ofPMM2 enzyme activity with the potential to treat peripheral neuropathy and correct the underlying enzyme deficiency in a majority of pediatric and adult PMM2-CDG patients.

    Additional information

    DMM040584supp.pdf
  • Janse, E., & Newman, R. S. (2013). Identifying nonwords: Effects of lexical neighborhoods, phonotactic probability, and listener characteristics. Language and Speech, 56(4), 421-444. doi:10.1177/0023830912447914.

    Abstract

    Listeners find it relatively difficult to recognize words that are similar-sounding to other known words. In contrast, when asked to identify spoken nonwords, listeners perform better when the nonwords are similar to many words in their language. These effects of sound similarity have been assessed in multiple ways, and both sublexical (phonotactic probability) and lexical (neighborhood) effects have been reported, leading to models that incorporate multiple stages of processing. One prediction that can be derived from these models is that there may be differences among individuals in the size of these similarity effects as a function of working memory abilities. This study investigates how item-individual characteristics of nonwords (both phonotactic probability and neighborhood density) interact with listener-individual characteristics (such as cognitive abilities and hearing sensitivity) in the perceptual identification of nonwords. A set of nonwords was used in which neighborhood density and phonotactic probability were not correlated. In our data, neighborhood density affected identification more reliably than did phonotactic probability. The first study, with young adults, showed that higher neighborhood density particularly benefits nonword identification for those with poorer attention-switching control. This suggests that it may be easier to focus attention on a novel item if it activates and receives support from more similar-sounding neighbors. A similar study on nonword identification with older adults showed increased neighborhood density effects for those with poorer hearing, suggesting that activation of long-term linguistic knowledge is particularly important to back up auditory representations that are degraded as a result of hearing loss.
  • Janssen, C., Segers, E., McQueen, J. M., & Verhoeven, L. (2019). Comparing effects of instruction on word meaning and word form on early literacy abilities in kindergarten. Early Education and Development, 30(3), 375-399. doi:10.1080/10409289.2018.1547563.

    Abstract

    Research Findings: The present study compared effects of explicit instruction on and practice with the phonological form of words (form-focused instruction) versus explicit instruction on and practice with the meaning of words (meaning-focused instruction). Instruction was given via interactive storybook reading in the kindergarten classroom of children learning Dutch. We asked whether the 2 types of instruction had different effects on vocabulary development and 2 precursors of reading ability—phonological awareness and letter knowledge—and we examined effects on these measures of the ability to learn new words with minimal acoustic-phonetic differences. Learners showed similar receptive target-word vocabulary gain after both types of instruction, but learners who received form-focused vocabulary instruction showed more gain in semantic knowledge of target vocabulary, phonological awareness, and letter knowledge than learners who received meaning-focused vocabulary instruction. Level of ability to learn pairs of words with minimal acoustic-phonetic differences predicted gain in semantic knowledge of target vocabulary and in letter knowledge in the form-focused instruction group only. Practice or Policy: A focus on the form of words during instruction appears to have benefits for young children learning vocabulary.
  • Janssen, R., Moisik, S. R., & Dediu, D. (2019). The effects of larynx height on vowel production are mitigated by the active control of articulators. Journal of Phonetics, 74, 1-17. doi:10.1016/j.wocn.2019.02.002.

    Abstract

    The influence of larynx position on vowel articulation is an important topic in understanding speech production, the present-day distribution of linguistic diversity and the evolution of speech and language in our lineage. We introduce here a realistic computer model of the vocal tract, constructed from actual human MRI data, which can learn, using machine learning techniques, to control the articulators in such a way as to produce speech sounds matching as closely as possible to a given set of target vowels. We systematically control the vertical position of the larynx and we quantify the differences between the target and produced vowels for each such position across multiple replications. We report that, indeed, larynx height does affect the accuracy of reproducing the target vowels and the distinctness of the produced vowel system, that there is a “sweet spot” of larynx positions that are optimal for vowel production, but that nevertheless, even extreme larynx positions do not result in a collapsed or heavily distorted vowel space that would make speech unintelligible. Together with other lines of evidence, our results support the view that the vowel space of human languages is influenced by our larynx position, but that other positions of the larynx may also be fully compatible with speech.

    Additional information

    Research Data via Github

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