Publications

Displaying 201 - 300 of 880
  • Francisco, A. A., Takashima, A., McQueen, J. M., Van den Bunt, M., Jesse, A., & Groen, M. A. (2018). Adult dyslexic readers benefit less from visual input during audiovisual speech processing: fMRI evidence. Neuropsychologia, 117, 454-471. doi:10.1016/j.neuropsychologia.2018.07.009.

    Abstract

    The aim of the present fMRI study was to investigate whether typical and dyslexic adult readers differed in the neural correlates of audiovisual speech processing. We tested for Blood Oxygen-Level Dependent (BOLD) activity differences between these two groups in a 1-back task, as they processed written (word, illegal consonant strings) and spoken (auditory, visual and audiovisual) stimuli. When processing written stimuli, dyslexic readers showed reduced activity in the supramarginal gyrus, a region suggested to play an important role in phonological processing, but only when they processed strings of consonants, not when they read words. During the speech perception tasks, dyslexic readers were only slower than typical readers in their behavioral responses in the visual speech condition. Additionally, dyslexic readers presented reduced neural activation in the auditory, the visual, and the audiovisual speech conditions. The groups also differed in terms of superadditivity, with dyslexic readers showing decreased neural activation in the regions of interest. An additional analysis focusing on vision-related processing during the audiovisual condition showed diminished activation for the dyslexic readers in a fusiform gyrus cluster. Our results thus suggest that there are differences in audiovisual speech processing between dyslexic and normal readers. These differences might be explained by difficulties in processing the unisensory components of audiovisual speech, more specifically, dyslexic readers may benefit less from visual information during audiovisual speech processing than typical readers. Given that visual speech processing supports the development of phonological skills fundamental in reading, differences in processing of visual speech could contribute to differences in reading ability between typical and dyslexic readers.
  • Francken, J. C., Meijs, E. L., Ridderinkhof, O. M., Hagoort, P., de Lange, F. P., & van Gaal, S. (2015). Manipulating word awareness dissociates feed-forward from feedback models of language-perception interactions. Neuroscience of consciousness, 1. doi:10.1093/nc/niv003.

    Abstract

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

    Abstract

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

    Abstract

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

    Abstract

    Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319. The region of association is also directly upstream of a third gene, THEM2. We found evidence of these associations in a second sample of siblings from the United Kingdom, as well as in an independent sample of twin-based sibships from Colorado. One main RD risk haplotype that has a frequency of ∼12% was found in both the U.K. and U.S. samples. The haplotype is not distinguished by any protein-coding polymorphisms, and, therefore, the functional variation may relate to gene expression. The QTL influences a broad range of reading-related cognitive abilities but has no significant impact on general cognitive performance in these samples. In addition, the QTL effect may be largely limited to the severe range of reading disability.
  • Francks, C. (2015). Exploring human brain lateralization with molecular genetics and genomics. Annals of the New York Academy of Sciences, 1359, 1-13. doi:10.1111/nyas.12770.

    Abstract

    Lateralizations of brain structure and motor behavior have been observed in humans as early as the first trimester of gestation, and are likely to arise from asymmetrical genetic–developmental programs, as in other animals. Studies of gene expression levels in postmortem tissue samples, comparing the left and right sides of the human cerebral cortex, have generally not revealed striking transcriptional differences between the hemispheres. This is likely due to lateralization of gene expression being subtle and quantitative. However, a recent re-analysis and meta-analysis of gene expression data from the adult superior temporal and auditory cortex found lateralization of transcription of genes involved in synaptic transmission and neuronal electrophysiology. Meanwhile, human subcortical mid- and hindbrain structures have not been well studied in relation to lateralization of gene activity, despite being potentially important developmental origins of asymmetry. Genetic polymorphisms with small effects on adult brain and behavioral asymmetries are beginning to be identified through studies of large datasets, but the core genetic mechanisms of lateralized human brain development remain unknown. Identifying subtly lateralized genetic networks in the brain will lead to a new understanding of how neuronal circuits on the left and right are differently fine-tuned to preferentially support particular cognitive and behavioral functions.
  • Francks, C., Fisher, S. E., Marlow, A. J., MacPhie, I. L., Taylor, K. E., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2003). Familial and genetic effects on motor coordination, laterality, and reading-related cognition. American Journal of Psychiatry, 160(11), 1970-1977. doi:10.1176/appi.ajp.160.11.1970.

    Abstract

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

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

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

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

    Abstract

    Schizophrenia and non-right-handedness are moderately associated, and both traits are often accompanied by abnormalities of asymmetrical brain morphology or function. We have found linkage previously of chromosome 2p12-q11 to a quantitative measure of handedness, and we have also found linkage of schizophrenia/schizoaffective disorder to this same chromosomal region in a separate study. Now, we have found that in one of our samples (191 reading-disabled sibling pairs), the relative hand skill of siblings was correlated more strongly with paternal than maternal relative hand skill. This led us to re-analyse 2p12-q11 under parent-of-origin linkage models. We found linkage of relative hand skill in the RD siblings to 2p12-q11 with P=0.0000037 for paternal identity-by-descent sharing, whereas the maternally inherited locus was not linked to the trait (P>0.2). Similarly, in affected-sib-pair analysis of our schizophrenia dataset (241 sibling pairs), we found linkage to schizophrenia for paternal sharing with LOD=4.72, P=0.0000016, within 3 cM of the peak linkage to relative hand skill. Maternal linkage across the region was weak or non-significant. These similar paternal-specific linkages suggest that the causative genetic effects on 2p12-q11 are related. The linkages may be due to a single maternally imprinted influence on lateralized brain development that contains common functional polymorphisms.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2003). Modeling knowledge-based inferences in story comprehension. Cognitive Science, 27(6), 875-910. doi:10.1016/j.cogsci.2003.07.002.

    Abstract

    A computational model of inference during story comprehension is presented, in which story situations are represented distributively as points in a high-dimensional “situation-state space.” This state space organizes itself on the basis of a constructed microworld description. From the same description, causal/temporal world knowledge is extracted. The distributed representation of story situations is more flexible than Golden and Rumelhart’s [Discourse Proc 16 (1993) 203] localist representation. A story taking place in the microworld corresponds to a trajectory through situation-state space. During the inference process, world knowledge is applied to the story trajectory. This results in an adjusted trajectory, reflecting the inference of propositions that are likely to be the case. Although inferences do not result from a search for coherence, they do cause story coherence to increase. The results of simulations correspond to empirical data concerning inference, reading time, and depth of processing. An extension of the model for simulating story retention shows how coherence is preserved during retention without controlling the retention process. Simulation results correspond to empirical data concerning story recall and intrusion.
  • Frank, S. L., & Yang, J. (2018). Lexical representation explains cortical entrainment during speech comprehension. PLoS One, 13(5): e0197304. doi:10.1371/journal.pone.0197304.

    Abstract

    Results from a recent neuroimaging study on spoken sentence comprehension have been interpreted as evidence for cortical entrainment to hierarchical syntactic structure. We present a simple computational model that predicts the power spectra from this study, even
    though the model's linguistic knowledge is restricted to the lexical level, and word-level representations are not combined into higher-level units (phrases or sentences). Hence, the
    cortical entrainment results can also be explained from the lexical properties of the stimuli, without recourse to hierarchical syntax.
  • Franken, M. K., Hagoort, P., & Acheson, D. J. (2015). Modulations of the auditory M100 in an Imitation Task. Brain and Language, 142, 18-23. doi:10.1016/j.bandl.2015.01.001.

    Abstract

    Models of speech production explain event-related suppression of the auditory cortical
    response as reflecting a comparison between auditory predictions and feedback. The present MEG
    study was designed to test two predictions from this framework: 1) whether the reduced auditory
    response varies as a function of the mismatch between prediction and feedback; 2) whether individual
    variation in this response is predictive of speech-motor adaptation.
    Participants alternated between online imitation and listening tasks. In the imitation task, participants
    began each trial producing the same vowel (/e/) and subsequently listened to and imitated auditorilypresented
    vowels varying in acoustic distance from /e/.
    Results replicated suppression, with a smaller M100 during speaking than listening. Although we did
    not find unequivocal support for the first prediction, participants with less M100 suppression were
    better at the imitation task. These results are consistent with the enhancement of M100 serving as an
    error signal to drive subsequent speech-motor adaptation.
  • Franken, M. K., Acheson, D. J., McQueen, J. M., Hagoort, P., & Eisner, F. (2018). Opposing and following responses in sensorimotor speech control: Why responses go both ways. Psychonomic Bulletin & Review, 25(4), 1458-1467. doi:10.3758/s13423-018-1494-x.

    Abstract

    When talking, speakers continuously monitor and use the auditory feedback of their own voice to control and inform speech production processes. When speakers are provided with auditory feedback that is perturbed in real time, most of them compensate for this by opposing the feedback perturbation. But some speakers follow the perturbation. In the current study, we investigated whether the state of the speech production system at perturbation onset may determine what type of response (opposing or following) is given. The results suggest that whether a perturbation-related response is opposing or following depends on ongoing fluctuations of the production system: It initially responds by doing the opposite of what it was doing. This effect and the non-trivial proportion of following responses suggest that current production models are inadequate: They need to account for why responses to unexpected sensory feedback depend on the production-system’s state at the time of perturbation.
  • Franken, M. K., Eisner, F., Acheson, D. J., McQueen, J. M., Hagoort, P., & Schoffelen, J.-M. (2018). Self-monitoring in the cerebral cortex: Neural responses to pitch-perturbed auditory feedback during speech production. NeuroImage, 179, 326-336. doi:10.1016/j.neuroimage.2018.06.061.

    Abstract

    Speaking is a complex motor skill which requires near instantaneous integration of sensory and motor-related information. Current theory hypothesizes a complex interplay between motor and auditory processes during speech production, involving the online comparison of the speech output with an internally generated forward model. To examine the neural correlates of this intricate interplay between sensory and motor processes, the current study uses altered auditory feedback (AAF) in combination with magnetoencephalography (MEG). Participants vocalized the vowel/e/and heard auditory feedback that was temporarily pitch-shifted by only 25 cents, while neural activity was recorded with MEG. As a control condition, participants also heard the recordings of the same auditory feedback that they heard in the first half of the experiment, now without vocalizing. The participants were not aware of any perturbation of the auditory feedback. We found auditory cortical areas responded more strongly to the pitch shifts during vocalization. In addition, auditory feedback perturbation resulted in spectral power increases in the θ and lower β bands, predominantly in sensorimotor areas. These results are in line with current models of speech production, suggesting auditory cortical areas are involved in an active comparison between a forward model's prediction and the actual sensory input. Subsequently, these areas interact with motor areas to generate a motor response. Furthermore, the results suggest that θ and β power increases support auditory-motor interaction, motor error detection and/or sensory prediction processing.
  • Frazier, T., Embacher, R., Tilot, A. K., Koenig, K., Mester, J., & Eng, C. (2015). Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. Molecular Psychiatry., 20, 1132-1138. doi:10.1038/mp.2014.125.

    Abstract

    PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. The present study examined molecular and phenotypic characteristics of individuals with germline heterozygous PTEN mutations and autism spectrum disorder (ASD) (PTEN-ASD), with the aim of identifying pathophysiologic markers that specifically associate with PTEN-ASD and that may serve as targets for future treatment trials. PTEN-ASD patients (n=17) were compared with idiopathic (non-PTEN) ASD patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=14). Group differences were evaluated for PTEN pathway protein expression levels, global and regional structural brain volumes and cortical thickness measures, neurocognition and adaptive behavior. RNA expression patterns and brain characteristics of a murine model of Pten mislocalization were used to further evaluate abnormalities observed in human PTEN-ASD patients. PTEN-ASD had a high proportion of missense mutations and showed reduced PTEN protein levels. Compared with the other groups, prominent white-matter and cognitive abnormalities were specifically associated with PTEN-ASD patients, with strong reductions in processing speed and working memory. White-matter abnormalities mediated the relationship between PTEN protein reductions and reduced cognitive ability. The Ptenm3m4 murine model had differential expression of genes related to myelination and increased corpus callosum. Processing speed and working memory deficits and white-matter abnormalities may serve as useful features that signal clinicians that PTEN is etiologic and prompting referral to genetic professionals for gene testing, genetic counseling and cancer risk management; and could reveal treatment targets in trials of treatments for PTEN-ASD.
  • Fusaroli, R., Perlman, M., Mislove, A., Paxton, A., Matlock, T., & Dale, R. (2015). Timescales of massive human entrainment. PLoS One, 10: e0122742. doi:10.1371/journal.pone.0122742.

    Abstract

    The past two decades have seen an upsurge of interest in the collective behaviors of complex systems composed of many agents entrained to each other and to external events. In this paper, we extend the concept of entrainment to the dynamics of human collective attention. We conducted a detailed investigation of the unfolding of human entrainment—as expressed by the content and patterns of hundreds of thousands of messages on Twitter—during the 2012 US presidential debates. By time-locking these data sources, we quantify the impact of the unfolding debate on human attention at three time scales. We show that collective social behavior covaries second-by-second to the interactional dynamics of the debates: A candidate speaking induces rapid increases in mentions of his name on social media and decreases in mentions of the other candidate. Moreover, interruptions by an interlocutor increase the attention received. We also highlight a distinct time scale for the impact of salient content during the debates: Across well-known remarks in each debate, mentions in social media start within 5–10 seconds after it occurs; peak at approximately one minute; and slowly decay in a consistent fashion across well-known events during the debates. Finally, we show that public attention after an initial burst slowly decays through the course of the debates. Thus we demonstrate that large-scale human entrainment may hold across a number of distinct scales, in an exquisitely time-locked fashion. The methods and results pave the way for careful study of the dynamics and mechanisms of large-scale human entrainment.
  • Gaby, A. R. (2004). Extended functions of Thaayorre body part terms. Papers in Linguistics and Applied Linguistics, 4(2), 24-34.
  • Galizia, E. C., Myers, C. T., Leu, C., De Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. E., Nurnberg, P. and 28 moreGalizia, E. C., Myers, C. T., Leu, C., De Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. E., Nurnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Del Gaudio, L., Boustred, C., Schneider, A. L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L. G., Mullen, S. A., Berkovic, S. F., Stephani, U., Helbig, I., Crawford, A. D., Esguerra, C. V., Trenite, D., Koeleman, B. P. C., Mefford, H. C., Scheffer, I. E., Sisodiya, S. M., & EURO Epinomics CoGIE Consortium (2015). CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain, 138(5), 1198-1207. doi:10.1093%2Fbrain%2Fawv052.

    Abstract

    Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2·17 × 10−5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3·50 × 10−4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.
  • Galucio, A. V., Meira, S., Birchall, J., Moore, D., Gabas Junior, N., Drude, S., Storto, L., Picanço, G., & Rodrigues, C. R. (2015). Genealogical relations and lexical distances within the Tupian linguistic family. Boletim do Museu Paraense Emilio Goeldi:Ciencias Humanas, 10, 229-274. doi:10.1590/1981-81222015000200004.

    Abstract

    In this paper we present the first results of the application of computational methods, inspired by the ideas in McMahon & McMahon (2005), to a dataset collected from languages of every branch of the Tupian family (including all living non-Tupí-Guaraní languages) in order to produce a classification of the family based on lexical distance. We used both a Swadesh list (with historically stabler terms) and a list of animal and plant names for results comparison. In addition, we also selected more (HiHi) and less (LoLo) stable terms from the Swadesh list to form sublists for indepedent treatment. We compared the resulting NeighborNet networks and neighbor-joining cladograms and drew conclusions about their significance for the current understanding of the classification of Tupian languages. One important result is the lack of support for the currently discussed idea of an Eastern-Western division within Tupí
  • Gao, X., & Jiang, T. (2018). Sensory constraints on perceptual simulation during sentence reading. Journal of Experimental Psychology: Human Perception and Performance, 44(6), 848-855. doi:10.1037/xhp0000475.

    Abstract

    Resource-constrained models of language processing predict that perceptual simulation during language understanding would be compromised by sensory limitations (such as reading text in unfamiliar/difficult font), whereas strong versions of embodied theories of language would predict that simulating perceptual symbols in language would not be impaired even under sensory-constrained situations. In 2 experiments, sensory decoding difficulty was manipulated by using easy and hard fonts to study perceptual simulation during sentence reading (Zwaan, Stanfield, & Yaxley, 2002). Results indicated that simulating perceptual symbols in language was not compromised by surface-form decoding challenges such as difficult font, suggesting relative resilience of embodied language processing in the face of certain sensory constraints. Further implications for learning from text and individual differences in language processing will be discussed
  • Garcia, R., Dery, J. E., Roeser, J., & Höhle, B. (2018). Word order preferences of Tagalog-speaking adults and children. First Language, 38(6), 617-640. doi:10.1177/0142723718790317.

    Abstract

    This article investigates the word order preferences of Tagalog-speaking adults and five- and seven-year-old children. The participants were asked to complete sentences to describe pictures depicting actions between two animate entities. Adults preferred agent-initial constructions in the patient voice but not in the agent voice, while the children produced mainly agent-initial constructions regardless of voice. This agent-initial preference, despite the lack of a close link between the agent and the subject in Tagalog, shows that this word order preference is not merely syntactically-driven (subject-initial preference). Additionally, the children’s agent-initial preference in the agent voice, contrary to the adults’ lack of preference, shows that children do not respect the subject-last principle of ordering Tagalog full noun phrases. These results suggest that language-specific optional features like a subject-last principle take longer to be acquired.
  • Gascoyne, D. M., Spearman, H., Lyne, L., Puliyadi, R., Perez-Alcantara, M., Coulton, L., Fisher, S. E., Croucher, P. I., & Banham, A. H. (2015). The forkhead transcription factor FOXP2 is required for regulation of p21 WAF1/CIP1 in 143B osteosarcoma cell growth arrest. PLoS One, 10(6): e0128513. doi:10.1371/journal.pone.0128513.

    Abstract

    Mutations of the forkhead transcription factor FOXP2 gene have been implicated in inherited speech-and-language disorders, and specific Foxp2 expression patterns in neuronal populations and neuronal phenotypes arising from Foxp2 disruption have been described. However, molecular functions of FOXP2 are not completely understood. Here we report a requirement for FOXP2 in growth arrest of the osteosarcoma cell line 143B. We observed endogenous expression of this transcription factor both transiently in normally developing murine osteoblasts and constitutively in human SAOS-2 osteosarcoma cells blocked in early osteoblast development. Critically, we demonstrate that in 143B osteosarcoma cells with minimal endogenous expression, FOXP2 induced by growth arrest is required for up-regulation of p21WAF1/CIP1. Upon growth factor withdrawal, FOXP2 induction occurs rapidly and precedes p21WAF1/CIP1 activation. Additionally, FOXP2 expression could be induced by MAPK pathway inhibition in growth-arrested 143B cells, but not in traditional cell line models of osteoblast differentiation (MG-63, C2C12, MC3T3-E1). Our data are consistent with a model in which transient upregulation of Foxp2 in pre-osteoblast mesenchymal cells regulates a p21-dependent growth arrest checkpoint, which may have implications for normal mesenchymal and osteosarcoma biology
  • Genetics of Personality Consortium (2015). Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder. JAMA Psychiatry, 72(7), 642-650. doi:10.1001/jamapsychiatry.2015.0554.

    Abstract

    Importance 
    Neuroticism is a pervasive risk factor for psychiatric conditions. It genetically overlaps with major depressive disorder (MDD) and is therefore an important phenotype for psychiatric genetics. The Genetics of Personality Consortium has created a resource for genome-wide association analyses of personality traits in more than 63 000 participants (including MDD cases).Objectives
    To identify genetic variants associated with neuroticism by performing a meta-analysis of genome-wide association results based on 1000 Genomes imputation; to evaluate whether common genetic variants as assessed by single-nucleotide polymorphisms (SNPs) explain variation in neuroticism by estimating SNP-based heritability; and to examine whether SNPs that predict neuroticism also predict MDD.Design, Setting, and Participants
    Genome-wide association meta-analysis of 30 cohorts with genome-wide genotype, personality, and MDD data from the Genetics of Personality Consortium. The study included 63 661 participants from 29 discovery cohorts and 9786 participants from a replication cohort. Participants came from Europe, the United States, or Australia. Analyses were conducted between 2012 and 2014.Main Outcomes and Measures
    Neuroticism scores harmonized across all 29 discovery cohorts by item response theory analysis, and clinical MDD case-control status in 2 of the cohorts.Results
    A genome-wide significant SNP was found on 3p14 in MAGI1 (rs35855737; P = 9.26 × 10−9 in the discovery meta-analysis). This association was not replicated (P = .32), but the SNP was still genome-wide significant in the meta-analysis of all 30 cohorts (P = 2.38 × 10−8). Common genetic variants explain 15% of the variance in neuroticism. Polygenic scores based on the meta-analysis of neuroticism in 27 cohorts significantly predicted neuroticism (1.09 × 10−12 <} P {<} .05) and MDD (4.02 × 10−9 {<} P {< .05) in the 2 other cohorts.Conclusions and Relevance
    This study identifies a novel locus for neuroticism. The variant is located in a known gene that has been associated with bipolar disorder and schizophrenia in previous studies. In addition, the study shows that neuroticism is influenced by many genetic variants of small effect that are either common or tagged by common variants. These genetic variants also influence MDD. Future studies should confirm the role of the MAGI1 locus for neuroticism and further investigate the association of MAGI1 and the polygenic association to a range of other psychiatric disorders that are phenotypically correlated with neuroticism.

    Files private

    Request files
  • Gerrits, F., Senft, G., & Wisse, D. (2018). Bomiyoyeva and bomduvadoya: Two rare structures on the Trobriand Islands exclusively reserved for Tabalu chiefs. Anthropos, 113, 93-113. doi:10.5771/0257-9774-2018-1-93.

    Abstract

    This article presents information about two so far undescribed buildings made by the Trobriand Islanders, the bomiyoyeva and the bomduvadova. These structures are connected to the highest-ranking chiefs living in Labai and Omarakana on Kiriwina Island. They highlight the power and eminence of these chiefs. After a brief report on the history of this project, the structure of the two houses, their function, and their use is described and information on their construction and their mythical background is provided. Finally, everyday as well as ritual, social, and political functions of both buildings are discussed. [Melanesia, Trobriand Islands, Tabalu chiefs, yams houses, bomiyoyeva, bomduvadova, authoritative capacities]

    Additional information

    link to journal
  • Gerwien, J., & Flecken, M. (2015). There is no prime for time: the missing link between form and concept of progressive aspect in L2 production. International Journal of Bilingual Education and Bilingualism, 18(5), 561-587. doi:10.1080/13670050.2015.1027144.

    Abstract

    The acquisition of linguistic structures that require perspective-taking at the level of message generation is challenging. We investigate use of progressive aspect in L2 event encoding, using a sentence priming paradigm. We focus on Dutch, in which use of progressive aspect is optional. The progressive consists of a prepositional phrase (‘aan het,’ at-the), plus a verbal infinitive. We ask, to what extent L2 speakers, in comparison to native speakers, show priming effects in relation to form (prepositional phrase) or conceptual (progressive aspect) prime sentences. In native Dutch speakers we find a priming effect for the ‘progressive prime,’ compared to a ‘neutral prime’ (aspectually neutral event description). In L2 speakers this effect was absent. For the form prime, no priming effects were obtained in native speakers, rather, we find evidence for a partial blocking effect in L2 speakers. Results suggest that the strength of the link between concept and form of progressive aspect differs in native and L2 speakers. Specific factors contributed to the L2 findings, e.g., level of L2 proficiency and degree of L2 exposure. We conclude that (1) the conceptual basis of grammatical aspect can be primed in native speakers, and (2) in L2 speakers, access to conceptual information is less automatized.

    Files private

    Request files
  • Geurts, B., & Rubio-Fernández, P. (2015). Pragmatics and processing. Ratio: an international journal of analytic philosophy, 28(4), 446-469. doi:10.1111/rati.12113.

    Abstract

    Gricean pragmatics has often been criticised for being implausible from a psychological point of view. This line of criticism is never backed up by empirical evidence, but more importantly, it ignores the fact that Grice never meant to advance a processing theory, in the first place. Taking our lead from Marr (1982), we distinguish between two levels of explanation: at the W-level, we are concerned with what agents do and why; at the H-level, we ask how agents do whatever it is they do. Whereas pragmatics is pitched at the W-level, processing theories are at the H-level. This is not to say that pragmatics has no implications for psychology at all, but it is to say that its implications are less direct than is often supposed.
  • Ghatan, P. H., Hsieh, J. C., Petersson, K. M., Stone-Elander, S., & Ingvar, M. (1998). Coexistence of attention-based facilitation and inhibition in the human cortex. NeuroImage, 7, 23-29.

    Abstract

    A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.
  • Gilbers, S., Fuller, C., Gilbers, D., Broersma, M., Goudbeek, M., Free, R., & Başkent, D. (2015). Normal-hearing listeners' and cochlear implant users' perception of pitch cues in emotional speech. i-Perception, 6(5), 1-19. doi:0.1177/0301006615599139.

    Abstract

    In cochlear implants (CIs), acoustic speech cues, especially for pitch, are delivered in a degraded form. This study's aim is to assess whether due to degraded pitch cues, normal-hearing listeners and CI users employ different perceptual strategies to recognize vocal emotions, and, if so, how these differ. Voice actors were recorded pronouncing a nonce word in four different emotions: anger, sadness, joy, and relief. These recordings' pitch cues were phonetically analyzed. The recordings were used to test 20 normal-hearing listeners' and 20 CI users' emotion recognition. In congruence with previous studies, high-arousal emotions had a higher mean pitch, wider pitch range, and more dominant pitches than low-arousal emotions. Regarding pitch, speakers did not differentiate emotions based on valence but on arousal. Normal-hearing listeners outperformed CI users in emotion recognition, even when presented with CI simulated stimuli. However, only normal-hearing listeners recognized one particular actor's emotions worse than the other actors'. The groups behaved differently when presented with similar input, showing that they had to employ differing strategies. Considering the respective speaker's deviating pronunciation, it appears that for normal-hearing listeners, mean pitch is a more salient cue than pitch range, whereas CI users are biased toward pitch range cues
  • Gingras, B., Honing, H., Peretz, I., Trainor, L. J., & Fisher, S. E. (2015). Defining the biological bases of individual differences in musicality. Philosophical Transactions of the Royal Society of London, Series B: Biological Sciences, 370: 20140092. doi:10.1098/rstb.2014.0092.

    Abstract

    Advances in molecular technologies make it possible to pinpoint genomic factors associated with complex human traits. For cognition and behaviour, identification of underlying genes provides new entry points for deciphering the key neurobiological pathways. In the past decade, the search for genetic correlates of musicality has gained traction. Reports have documented familial clustering for different extremes of ability, including amusia and absolute pitch (AP), with twin studies demonstrating high heritability for some music-related skills, such as pitch perception. Certain chromosomal regions have been linked to AP and musical aptitude, while individual candidate genes have been investigated in relation to aptitude and creativity. Most recently, researchers in this field started performing genome-wide association scans. Thus far, studies have been hampered by relatively small sample sizes and limitations in defining components of musicality, including an emphasis on skills that can only be assessed in trained musicians. With opportunities to administer standardized aptitude tests online, systematic large-scale assessment of musical abilities is now feasible, an important step towards high-powered genome-wide screens. Here, we offer a synthesis of existing literatures and outline concrete suggestions for the development of comprehensive operational tools for the analysis of musical phenotypes.
  • Gisladottir, R. S., Chwilla, D., & Levinson, S. C. (2015). Conversation electrified: ERP correlates of speech act recognition in underspecified utterances. PLoS One, 10(3): e0120068. doi:10.1371/journal.pone.0120068.

    Abstract

    The ability to recognize speech acts (verbal actions) in conversation is critical for everyday interaction. However, utterances are often underspecified for the speech act they perform, requiring listeners to rely on the context to recognize the action. The goal of this study was to investigate the time-course of auditory speech act recognition in action-underspecified utterances and explore how sequential context (the prior action) impacts this process. We hypothesized that speech acts are recognized early in the utterance to allow for quick transitions between turns in conversation. Event-related potentials (ERPs) were recorded while participants listened to spoken dialogues and performed an action categorization task. The dialogues contained target utterances that each of which could deliver three distinct speech acts depending on the prior turn. The targets were identical across conditions, but differed in the type of speech act performed and how it fit into the larger action sequence. The ERP results show an early effect of action type, reflected by frontal positivities as early as 200 ms after target utterance onset. This indicates that speech act recognition begins early in the turn when the utterance has only been partially processed. Providing further support for early speech act recognition, actions in highly constraining contexts did not elicit an ERP effect to the utterance-final word. We take this to show that listeners can recognize the action before the final word through predictions at the speech act level. However, additional processing based on the complete utterance is required in more complex actions, as reflected by a posterior negativity at the final word when the speech act is in a less constraining context and a new action sequence is initiated. These findings demonstrate that sentence comprehension in conversational contexts crucially involves recognition of verbal action which begins as soon as it can.
  • Gisladottir, R. S., Bögels, S., & Levinson, S. C. (2018). Oscillatory brain responses reflect anticipation during comprehension of speech acts in spoken dialogue. Frontiers in Human Neuroscience, 12: 34. doi:10.3389/fnhum.2018.00034.

    Abstract

    Everyday conversation requires listeners to quickly recognize verbal actions, so-called speech acts, from the underspecified linguistic code and prepare a relevant response within the tight time constraints of turn-taking. The goal of this study was to determine the time-course of speech act recognition by investigating oscillatory EEG activity during comprehension of spoken dialogue. Participants listened to short, spoken dialogues with target utterances that delivered three distinct speech acts (Answers, Declinations, Pre-offers). The targets were identical across conditions at lexico-syntactic and phonetic/prosodic levels but differed in the pragmatic interpretation of the speech act performed. Speech act comprehension was associated with reduced power in the alpha/beta bands just prior to Declination speech acts, relative to Answers and Pre-offers. In addition, we observed reduced power in the theta band during the beginning of Declinations, relative to Answers. Based on the role of alpha and beta desynchronization in anticipatory processes, the results are taken to indicate that anticipation plays a role in speech act recognition. Anticipation of speech acts could be critical for efficient turn-taking, allowing interactants to quickly recognize speech acts and respond within the tight time frame characteristic of conversation. The results show that anticipatory processes can be triggered by the characteristics of the interaction, including the speech act type.

    Additional information

    data sheet 1.pdf
  • Gisladottir, R. S. (2015). Other-initiated repair in Icelandic. Open Linguistics, 1(1), 309-328. doi:10.1515/opli-2015-0004.

    Abstract

    The ability to repair problems with hearing or understanding in conversation is critical for successful communication. This article describes the linguistic practices of other-initiated repair (OIR) in Icelandic through quantitative and qualitative analysis of a corpus of video-recorded conversations. The study draws on the conceptual distinctions developed in the comparative project on repair described in the introduction to this issue. The main aim is to give an overview of the formats for OIR in Icelandic and the type of repair practices engendered by them. The use of repair initiations in social actions not aimed at solving comprehension problems is also briefly discussed. In particular, the interjection ha has a rich usage extending beyond open other-initiation of repair. By describing the linguistic machinery for other-initiated repair in Icelandic, this study contributes to the typology of conversational structure and to the still nascent field of Icelandic social interaction studies.
  • Gisselgard, J., Petersson, K. M., & Ingvar, M. (2004). The irrelevant speech effect and working memory load. NeuroImage, 22, 1107-1116. doi:10.1016/j.neuroimage.2004.02.031.

    Abstract

    Irrelevant speech impairs the immediate serial recall of visually presented material. Previously, we have shown that the irrelevant speech effect (ISE) was associated with a relative decrease of regional blood flow in cortical regions subserving the verbal working memory, in particular the superior temporal cortex. In this extension of the previous study, the working memory load was increased and an increased activity as a response to irrelevant speech was noted in the dorsolateral prefrontal cortex. We suggest that the two studies together provide some basic insights as to the nature of the irrelevant speech effect. Firstly, no area in the brain can be ascribed as the single locus of the irrelevant speech effect. Instead, the functional neuroanatomical substrate to the effect can be characterized in terms of changes in networks of functionally interrelated areas. Secondly, the areas that are sensitive to the irrelevant speech effect are also generically activated by the verbal working memory task itself. Finally, the impact of irrelevant speech and related brain activity depends on working memory load as indicated by the differences between the present and the previous study. From a brain perspective, the irrelevant speech effect may represent a complex phenomenon that is a composite of several underlying mechanisms, which depending on the working memory load, include top-down inhibition as well as recruitment of compensatory support and control processes. We suggest that, in the low-load condition, a selection process by an inhibitory top-down modulation is sufficient, whereas in the high-load condition, at or above working memory span, auxiliary adaptive cognitive resources are recruited as compensation
  • Gisselgard, J., Petersson, K. M., Baddeley, A., & Ingvar, M. (2003). The irrelevant speech effect: A PET study. Neuropsychologia, 41, 1899-1911. doi:10.1016/S0028-3932(03)00122-2.

    Abstract

    Positron emission tomography (PET) was performed in normal volunteers during a serial recall task under the influence of irrelevant speech comprising both single item repetition and multi-item sequences. An interaction approach was used to identify brain areas specifically related to the irrelevant speech effect. We interpreted activations as compensatory recruitment of complementary working memory processing, and decreased activity in terms of suppression of task relevant areas invoked by the irrelevant speech. The interaction between the distractors and working memory revealed a significant effect in the left, and to a lesser extent in the right, superior temporal region, indicating that initial phonological processing was relatively suppressed. Additional areas of decreased activity were observed in an a priori defined cortical network related to verbalworking memory, incorporating the bilateral superior temporal and inferior/middle frontal corticesn extending into Broca’s area on the left. We also observed a weak activation in the left inferior parietal cortex, a region suggested to reflect the phonological store, the subcomponent where the interference is assumed to take place. The results suggest that the irrelevant speech effect is correlated with and thus tentatively may be explained in terms of a suppression of components of the verbal working memory network as outlined. The results can be interpreted in terms of inhibitory top–down attentional mechanisms attenuating the influence of the irrelevant speech, although additional studies are clearly necessary to more fully characterize the nature of this phenomenon and its theoretical implications for existing short-term memory models
  • Goldin-Meadow, S., Namboodiripad, S., Mylander, C., Ozyurek, A., & Sancar, B. (2015). The resilience of structure built around the predicate: Homesign gesture systems in Turkish and American deaf children. Journal of Cognition and Development, 16, 55-80. doi:10.1080/15248372.2013.803970.

    Abstract

    Deaf children whose hearing losses prevent them from accessing spoken language and whose hearing parents have not exposed them to sign language develop gesture systems, called homesigns, which have many of the properties of natural language—the so-called resilient properties of language. We explored the resilience of structure built around the predicate—in particular, how manner and path are mapped onto the verb—in homesign systems developed by deaf children in Turkey and the United States. We also asked whether the Turkish homesigners exhibit sentence-level structures previously identified as resilient in American and Chinese homesigners. We found that the Turkish and American deaf children used not only the same production probability and ordering patterns to indicate who does what to whom, but also used the same segmentation and conflation patterns to package manner and path. The gestures that the hearing parents produced did not, for the most part, display the patterns found in the children's gestures. Although cospeech gesture may provide the building blocks for homesign, it does not provide the blueprint for these resilient properties of language.
  • Goncharova, M. V., Klenova, A. V., & Bragina, E. V. (2015). Development of cues to individuality and sex in calls of three crane species: when is it good to be recognizable? Journal of Ethology, 33, 165-175. doi:10.1007/s10164-015-0428-6.

    Abstract

    Vocal individuality provides a method of personalization for multiple avian species. However, expression of individual vocal features depends on necessity of recognition. Here we focused on chick vocalizations of demoiselle, Siberian and red-crowned cranes that differ by their body size, developmental rates and some ecological traits. Cranes are territorial during summer, but gather in
    large flocks during autumn and winter. Nevertheless, parents keep feeding their chicks, even on winter grounds, despite the potential of confusing their own and alien
    chicks. Here we aimed to compare expression of individuality and sex in calls of three crane species between solitary and gregarious periods of a chick’s life, and between species. We found significant individual patterns of
    acoustic variables in the calls of all three species both before and after fledging. However, only red-crowned crane chicks increased expression of individuality significantly after the fledging. Also, we found that chicks of all three species significantly increased occurrence of nonlinear phenomena, i.e., irregular oscillations of soundproducing membranes (biphonations, sidebands, and deterministic chaos), in their calls after fledging. Non-linear phenomena can be a way of increasing the potential for
    individual recognition as well as avoiding habituation of parents to their chicks’ calls. The older chicks are, the less
    their parents feed them, and chicks benefit from keeping the permanent attention.

    Files private

    Request files
  • Gonzalez da Silva, C., Petersson, K. M., Faísca, L., Ingvar, M., & Reis, A. (2004). The effects of literacy and education on the quantitative and qualitative aspects of semantic verbal fluency. Journal of Clinical and Experimental Neuropsychology, 26(2), 266-277. doi:10.1076/jcen.26.2.266.28089.

    Abstract

    Semantic verbal fluency tasks are commonly used in neuropsychological assessment. Investigations of the influence of level of literacy have not yielded consistent results in the literature. This prompted us to investigate the ecological relevance of task specifics, in particular, the choice of semantic criteria used. Two groups of literate and illiterate subjects were compared on two verbal fluency tasks using different semantic criteria. The performance on a food criterion (supermarket fluency task), considered more ecologically relevant for the two literacy groups, and an animal criterion (animal fluency task) were compared. The data were analysed using both quantitative and qualitative measures. The quantitative analysis indicated that the two literacy groups performed equally well on the supermarket fluency task. In contrast, results differed significantly during the animal fluency task. The qualitative analyses indicated differences between groups related to the strategies used, especially with respect to the animal fluency task. The overall results suggest that there is not a substantial difference between literate and illiterate subjects related to the fundamental workings of semantic memory. However, there is indication that the content of semantic memory reflects differences in shared cultural background - in other words, formal education –, as indicated by the significant interaction between level of literacy and semantic criterion.
  • Goriot, C., Broersma, M., McQueen, J. M., Unsworth, S., & Van Hout, R. (2018). Language balance and switching ability in children acquiring English as a second language. Journal of Experimental Child Psychology, 173, 168-186. doi:10.1016/j.jecp.2018.03.019.

    Abstract

    This study investigated whether relative lexical proficiency in Dutch and English in child second language (L2) learners is related to executive functioning. Participants were Dutch primary school pupils of three different age groups (4–5, 8–9, and 11–12 years) who either were enrolled in an early-English schooling program or were age-matched controls not on that early-English program. Participants performed tasks that measured switching, inhibition, and working memory. Early-English program pupils had greater knowledge of English vocabulary and more balanced Dutch–English lexicons. In both groups, lexical balance, a ratio measure obtained by dividing vocabulary scores in English by those in Dutch, was related to switching but not to inhibition or working memory performance. These results show that for children who are learning an L2 in an instructional setting, and for whom managing two languages is not yet an automatized process, language balance may be more important than L2 proficiency in influencing the relation between childhood bilingualism and switching abilities.
  • Graham, S. A., Deriziotis, P., & Fisher, S. E. (2015). Insights into the genetic foundations of human communication. Neuropsychology Review, 25(1), 3-26. doi:10.1007/s11065-014-9277-2.

    Abstract

    The human capacity to acquire sophisticated language is unmatched in the animal kingdom. Despite the discontinuity in communicative abilities between humans and other primates, language is built on ancient genetic foundations, which are being illuminated by comparative genomics. The genetic architecture of the language faculty is also being uncovered by research into neurodevelopmental disorders that disrupt the normally effortless process of language acquisition. In this article, we discuss the strategies that researchers are using to reveal genetic factors contributing to communicative abilities, and review progress in identifying the relevant genes and genetic variants. The first gene directly implicated in a speech and language disorder was FOXP2. Using this gene as a case study, we illustrate how evidence from genetics, molecular cell biology, animal models and human neuroimaging has converged to build a picture of the role of FOXP2 in neurodevelopment, providing a framework for future endeavors to bridge the gaps between genes, brains and behavior
  • Graham, S. A., & Fisher, S. E. (2015). Understanding language from a genomic perspective. Annual Review of Genetics, 49, 131-160. doi:10.1146/annurev-genet-120213-092236.

    Abstract

    Language is a defining characteristic of the human species, but its foundations remain mysterious. Heritable disorders offer a gateway into biological underpinnings, as illustrated by the discovery that FOXP2 disruptions cause a rare form of speech and language impairment. The genetic architecture underlying language-related disorders is complex, and although some progress has been made, it has proved challenging to pinpoint additional relevant genes with confidence. Next-generation sequencing and genome-wide association studies are revolutionizing understanding of the genetic bases of other neurodevelopmental disorders, like autism and schizophrenia, and providing fundamental insights into the molecular networks crucial for typical brain development. We discuss how a similar genomic perspective, brought to the investigation of language-related phenotypes, promises to yield equally informative discoveries. Moreover, we outline how follow-up studies of genetic findings using cellular systems and animal models can help to elucidate the biological mechanisms involved in the development of brain circuits supporting language.

    Files private

    Request files
  • Gretsch, P. (2004). What does finiteness mean to children? A cross-linguistic perspective onroot infinitives. Linguistics, 42(2), 419-468. doi:10.1515/ling.2004.014.

    Abstract

    The discussion on root infinitives has mainly centered around their supposed modal usage. This article aims at modelling the form-function relation of the root infinitive phenomenon by taking into account the full range of interpretational facets encountered cross-linguistically and interindividually. Following the idea of a subsequent ‘‘cell partitioning’’ in the emergence of form-function correlations, I claim that it is the major fission between [+-finite] which is central to express temporal reference different from the default here&now in tense-oriented languages. In aspectual-oriented languages, a similar opposition is mastered with the marking of early aspectual forms. It is observed that in tense-oriented languages like Dutch and German, the progression of functions associated with the infinitival form proceeds from nonmodal to modal, whereas the reverse progression holds for the Russian infinitive. Based on this crucial observation, a model of acquisition is proposed which allows for a flexible and systematic relationship between morphological forms and their respective interpretational biases dependent on their developmental context. As for early child language, I argue that children entertain only two temporal parameters: one parameter is fixed to the here&now point in time, and a second parameter relates to the time talked about, the topic time; this latter time overlaps the situation time as long as no empirical evidence exists to support the emergence of a proper distinction between tense and aspect.

    Files private

    Request files
  • Groen, I. I. A., Jahfari, S., Seijdel, N., Ghebreab, S., Lamme, V. A. F., & Scholte, H. S. (2018). Scene complexity modulates degree of feedback activity during object detection in natural scenes. PLoS Computational Biology, 14: e1006690. doi:10.1371/journal.pcbi.1006690.

    Abstract

    Selective brain responses to objects arise within a few hundreds of milliseconds of neural processing, suggesting that visual object recognition is mediated by rapid feed-forward activations. Yet disruption of neural responses in early visual cortex beyond feed-forward processing stages affects object recognition performance. Here, we unite these discrepant findings by reporting that object recognition involves enhanced feedback activity (recurrent processing within early visual cortex) when target objects are embedded in natural scenes that are characterized by high complexity. Human participants performed an animal target detection task on natural scenes with low, medium or high complexity as determined by a computational model of low-level contrast statistics. Three converging lines of evidence indicate that feedback was selectively enhanced for high complexity scenes. First, functional magnetic resonance imaging (fMRI) activity in early visual cortex (V1) was enhanced for target objects in scenes with high, but not low or medium complexity. Second, event-related potentials (ERPs) evoked by target objects were selectively enhanced at feedback stages of visual processing (from ~220 ms onwards) for high complexity scenes only. Third, behavioral performance for high complexity scenes deteriorated when participants were pressed for time and thus less able to incorporate the feedback activity. Modeling of the reaction time distributions using drift diffusion revealed that object information accumulated more slowly for high complexity scenes, with evidence accumulation being coupled to trial-to-trial variation in the EEG feedback response. Together, these results suggest that while feed-forward activity may suffice to recognize isolated objects, the brain employs recurrent processing more adaptively in naturalistic settings, using minimal feedback for simple scenes and increasing feedback for complex scenes.

    Additional information

    data via OSF
  • Grünloh, T., & Liszkowski, U. (2015). Prelinguistic vocalizations distinguish pointing acts. Journal of Child Language, 42(6), 1312-1336. doi:10.1017/S0305000914000816.

    Abstract

    The current study investigated whether point-accompanying characteristics, like vocalizations and hand shape, differentiate infants' underlying motives of prelinguistic pointing. We elicited imperative (requestive) and declarative (expressive and informative) pointing acts in experimentally controlled situations, and analyzed accompanying characteristics. Experiment 1 revealed that prosodic characteristics of point-accompanying vocalizations distinguished requestive from both expressive and informative pointing acts, with little differences between the latter two. In addition, requestive points were more often realized with the whole hand than the index finger, while this was the opposite for expressive and informative acts. Experiment 2 replicated Experiment 1, revealing distinct prosodic characteristics for requestive pointing also when the referent was distal and when it had an index-finger shape. Findings reveal that beyond the social context, point-accompanying vocalizations give clues to infants' underlying intentions when pointing.
  • Guadalupe, T., Zwiers, M. P., Wittfeld, K., Teumer, A., Vasquez, A. A., Hoogman, M., Hagoort, P., Fernandez, G., Buitelaar, J., van Bokhoven, H., Hegenscheid, K., Völzke, H., Franke, B., Fisher, S. E., Grabe, H. J., & Francks, C. (2015). Asymmetry within and around the human planum temporale is sexually dimorphic and influenced by genes involved in steroid hormone receptor activity. Cortex, 62, 41-55. doi:10.1016/j.cortex.2014.07.015.

    Abstract

    The genetic determinants of cerebral asymmetries are unknown. Sex differences in asymmetry of the planum temporale, that overlaps Wernicke’s classical language area, have been inconsistently reported. Meta-analysis of previous studies has suggested that publication bias established this sex difference in the literature. Using probabilistic definitions of cortical regions we screened over the cerebral cortex for sexual dimorphisms of asymmetry in 2337 healthy subjects, and found the planum temporale to show the strongest sex-linked asymmetry of all regions, which was supported by two further datasets, and also by analysis with the Freesurfer package that performs automated parcellation of cerebral cortical regions. We performed a genome-wide association scan meta-analysis of planum temporale asymmetry in a pooled sample of 3095 subjects, followed by a candidate-driven approach which measured a significant enrichment of association in genes of the ´steroid hormone receptor activity´ and 'steroid metabolic process' pathways. Variants in the genes and pathways identified may affect the role of the planum temporale in language cognition.
  • Gubian, M., Torreira, F., & Boves, L. (2015). Using functional data analysis for investigating multidimensional dynamic phonetic contrasts. Journal of Phonetics, 49, 16-40. doi:10.1016/j.wocn.2014.10.001.

    Abstract

    The study of phonetic contrasts and related phenomena, e.g. inter- and intra-speaker variability, often requires to analyse data in the form of measured time series, like f0 contours and formant trajectories. As a consequence, the investigator has to find suitable ways to reduce the raw and abundant numerical information contained in a bundle of time series into a small but sufficient set of numerical descriptors of their shape. This approach requires one to decide in advance which dynamic traits to include in the analysis and which not. For example, a rising pitch gesture may be represented by its duration and slope, hence reducing it to a straight segment, or by a richer coding specifying also whether (and how much) the rising contour is concave or convex, the latter being irrelevant in some context but crucial in others. Decisions become even more complex when a phenomenon is described by a multidimensional time series, e.g. by the first two formants. In this paper we introduce a methodology based on Functional Data Analysis (FDA) that allows the investigator to delegate most of the decisions involved in the quantitative description of multidimensional time series to the data themselves. FDA produces a data-driven parametrisation of the main shape traits present in the data that is visually interpretable, in the same way as slopes or peak heights are. These output parameters are numbers that are amenable to ordinary statistical analysis, e.g. linear (mixed effects) models. FDA is also able to capture correlations among different dimensions of a time series, e.g. between formants F1 and F2. We present FDA by means of an extended case study on diphthong – hiatus distinction in Spanish, a contrast that involves duration, formant trajectories and pitch contours.
  • Le Guen, O., Samland, J., Friedrich, T., Hanus, D., & Brown, P. (2015). Making sense of (exceptional) causal relations. A cross-cultural and cross-linguistic study. Frontiers in Psychology, 6: 1645. doi:10.3389/fpsyg.2015.01645.

    Abstract

    In order to make sense of the world, humans tend to see causation almost everywhere. Although most causal relations may seem straightforward, they are not always construed in the same way cross-culturally. In this study, we investigate concepts of ‘chance’, ‘coincidence’ or ‘randomness’ that refer to assumed relations between intention, action, and outcome in situations, and we ask how people from different cultures make sense of such non-law-like connections. Based on a framework proposed by Alicke (2000), we administered a task that aims to be a neutral tool for investigating causal construals cross-culturally and cross-linguistically. Members of four different cultural groups, rural Mayan Yucatec and Tseltal speakers from Mexico and urban students from Mexico and Germany, were presented with a set of scenarios involving various types of causal and non-causal relations and were asked to explain the described events. Three links varied as to whether they were present or not in the scenarios: Intention to Action, Action to Outcome, and Intention to Outcome. Our results show that causality is recognized in all four cultural groups. However, how causality and especially non-law-like causality are interpreted depends on the type of links, the cultural background and the language used. In all three groups, Action to Outcome is the decisive link for recognizing causality. Despite the fact that the two Mayan groups share similar cultural backgrounds, they display different ideologies regarding concepts of non-law causality. The data suggests that the concept of ‘chance’ is not universal, but seems to be an explanation that only some cultural groups draw on to make sense of specific situations. Of particular importance is the existence of linguistic concepts in each language that trigger ideas of causality in the responses from each cultural group

    Additional information

    LeGuen_etal_2015sup.docx
  • Le Guen, O. (2003). Quand les morts reviennent, réflexion sur l'ancestralité chez les Mayas des Basses Terres. Journal de la Société des Américanistes, 89(2), 171-205.

    Abstract

    When the dead come home… Remarks on ancestor worship among the Lowland Mayas. In Amerindian ethnographical literature, ancestor worship is often mentioned but evidence of its existence is lacking. This article will try to demonstrate that some Lowland Maya do worship ancestors ; it will use precise criteria taken from ethnological studies of societies where ancestor worship is common, compared to maya beliefs and practices. The All Souls’ Day, or hanal pixan, seems to be the most significant manifestation of this cult. Our approach will be comparative, through time – using colonial and ethnographical data of the twentieth century, and space – contemplating uses and beliefs of two maya groups, the Yucatec and the Lacandon Maya.
  • Guerrero, L., & Van Valin Jr., R. D. (2004). Yaqui and the analysis of primary object languages. International Journal of American Linguistics, 70(3), 290-319. doi:10.1086/425603.

    Abstract

    The central topic of this study is to investigate three- and four-place predicate in Yaqui, which are characterized by having multiple object arguments. As with other Southern Uto-Aztecan languages, it has been said that Yaqui follows the Primary/Secondary Object pattern (Dryer 1986). Actually, Yaqui presents three patterns: verbs like nenka ‘sell’ follow the direct–indirect object pattern, verbs like miika ‘give’ follow the primary object pattern, and verbs like chijakta ‘sprinkle’ follow the locative alternation pattern; the primary object pattern is the exclusive one found with derived verbs. This paper shows that the contrast between direct object and primary object languages is not absolute but rather one of degree, and hence two “object” selection principles are needed to explain this mixed system. The two principles are not limited to Yaqui but are found in other languages as well, including English.
  • Guggenheim, J. A., St Pourcain, B., McMahon, G., Timpson, N. J., Evans, D. M., & Williams, C. (2015). Assumption-free estimation of the genetic contribution to refractive error across childhood. Molecular Vision, 21, 621-632. Retrieved from http://www.molvis.org/molvis/v21/621.

    Abstract

    Studies in relatives have generally yielded high heritability estimates for refractive error: twins 75–90%, families 15–70%. However, because related individuals often share a common environment, these estimates are inflated (via misallocation of unique/common environment variance). We calculated a lower-bound heritability estimate for refractive error free from such bias.
    Between the ages 7 and 15 years, participants in the Avon Longitudinal Study of Parents and Children (ALSPAC) underwent non-cycloplegic autorefraction at regular research clinics. At each age, an estimate of the variance in refractive error explained by single nucleotide polymorphism (SNP) genetic variants was calculated using genome-wide complex trait analysis (GCTA) using high-density genome-wide SNP genotype information (minimum N at each age=3,404).
    The variance in refractive error explained by the SNPs (“SNP heritability”) was stable over childhood: Across age 7–15 years, SNP heritability averaged 0.28 (SE=0.08, p<0.001). The genetic correlation for refractive error between visits varied from 0.77 to 1.00 (all p<0.001) demonstrating that a common set of SNPs was responsible for the genetic contribution to refractive error across this period of childhood. Simulations suggested lack of cycloplegia during autorefraction led to a small underestimation of SNP heritability (adjusted SNP heritability=0.35; SE=0.09). To put these results in context, the variance in refractive error explained (or predicted) by the time participants spent outdoors was <0.005 and by the time spent reading was <0.01, based on a parental questionnaire completed when the child was aged 8–9 years old.
    Genetic variation captured by common SNPs explained approximately 35% of the variation in refractive error between unrelated subjects. This value sets an upper limit for predicting refractive error using existing SNP genotyping arrays, although higher-density genotyping in larger samples and inclusion of interaction effects is expected to raise this figure toward twin- and family-based heritability estimates. The same SNPs influenced refractive error across much of childhood. Notwithstanding the strong evidence of association between time outdoors and myopia, and time reading and myopia, less than 1% of the variance in myopia at age 15 was explained by crude measures of these two risk factors, indicating that their effects may be limited, at least when averaged over the whole population.
  • Gullberg, M. (2004). [Review of the book Pointing: Where language, culture and cognition meet ed. by Sotaro Kita]. Gesture, 4(2), 235-248. doi:10.1075/gest.4.2.08gul.
  • Gupta, C. N., Calhoun, V. D., Rachkonda, S., Chen, J., Patel, V., Liu, J., Segall, J., Franke, B., Zwiers, M. P., Arias-Vasquez, A., Buitelaar, J., Fisher, S. E., Fernández, G., van Erp, T. G. M., Potkin, S., Ford, J., Matalon, D., McEwen, S., Lee, H. J., Mueller, B. A. and 16 moreGupta, C. N., Calhoun, V. D., Rachkonda, S., Chen, J., Patel, V., Liu, J., Segall, J., Franke, B., Zwiers, M. P., Arias-Vasquez, A., Buitelaar, J., Fisher, S. E., Fernández, G., van Erp, T. G. M., Potkin, S., Ford, J., Matalon, D., McEwen, S., Lee, H. J., Mueller, B. A., Greve, D. N., Andreassen, O., Agartz, I., Gollub, R. L., Sponheim, S. R., Ehrlich, S., Wang, L., Pearlson, G., Glahn, D. S., Sprooten, E., Mayer, A. R., Stephen, J., Jung, R. E., Canive, J., Bustillo, J., & Turner, J. A. (2015). Patterns of gray matter abnormalities in schizophrenia based on an international mega-analysis. Schizophrenia Bulletin, 41(5), 1133-1142. doi:10.1093/schbul/sbu177.

    Abstract

    Analyses of gray matter concentration (GMC) deficits in patients with schizophrenia (Sz) have identified robust changes throughout the cortex. We assessed the relationships between diagnosis, overall symptom severity, and patterns of gray matter in the largest aggregated structural imaging dataset to date. We performed both source-based morphometry (SBM) and voxel-based morphometry (VBM) analyses on GMC images from 784 Sz and 936 controls (Ct) across 23 scanning sites in Europe and the United States. After correcting for age, gender, site, and diagnosis by site interactions, SBM analyses showed 9 patterns of diagnostic differences. They comprised separate cortical, subcortical, and cerebellar regions. Seven patterns showed greater GMC in Ct than Sz, while 2 (brainstem and cerebellum) showed greater GMC for Sz. The greatest GMC deficit was in a single pattern comprising regions in the superior temporal gyrus, inferior frontal gyrus, and medial frontal cortex, which replicated over analyses of data subsets. VBM analyses identified overall cortical GMC loss and one small cluster of increased GMC in Sz, which overlapped with the SBM brainstem component. We found no significant association between the component loadings and symptom severity in either analysis. This mega-analysis confirms that the commonly found GMC loss in Sz in the anterior temporal lobe, insula, and medial frontal lobe form a single, consistent spatial pattern even in such a diverse dataset. The separation of GMC loss into robust, repeatable spatial patterns across multiple datasets paves the way for the application of these methods to identify subtle genetic and clinical cohort effects.
  • Hagoort, P., Wassenaar, M., & Brown, C. M. (2003). Syntax-related ERP-effects in Dutch. Cognitive Brain Research, 16(1), 38-50. doi:10.1016/S0926-6410(02)00208-2.

    Abstract

    In two studies subjects were required to read Dutch sentences that in some cases contained a syntactic violation, in other cases a semantic violation. All syntactic violations were word category violations. The design excluded differential contributions of expectancy to influence the syntactic violation effects. The syntactic violations elicited an Anterior Negativity between 300 and 500 ms. This negativity was bilateral and had a frontal distribution. Over posterior sites the same violations elicited a P600/SPS starting at about 600 ms. The semantic violations elicited an N400 effect. The topographic distribution of the AN was more frontal than the distribution of the classical N400 effect, indicating that the underlying generators of the AN and the N400 are, at least to a certain extent, non-overlapping. Experiment 2 partly replicated the design of Experiment 1, but with differences in rate of presentation and in the distribution of items over subjects, and without semantic violations. The word category violations resulted in the same effects as were observed in Experiment 1, showing that they were independent of some of the specific parameters of Experiment 1. The discussion presents a tentative account of the functional differences in the triggering conditions of the AN and the P600/SPS.
  • Hagoort, P., Wassenaar, M., & Brown, C. M. (2003). Real-time semantic compensation in patients with agrammatic comprehension: Electrophysiological evidence for multiple-route plasticity. Proceedings of the National Academy of Sciences of the United States of America, 100(7), 4340-4345. doi:10.1073/pnas.0230613100.

    Abstract

    To understand spoken language requires that the brain provides rapid access to different kinds of knowledge, including the sounds and meanings of words, and syntax. Syntax specifies constraints on combining words in a grammatically well formed manner. Agrammatic patients are deficient in their ability to use these constraints, due to a lesion in the perisylvian area of the languagedominant hemisphere. We report a study on real-time auditory sentence processing in agrammatic comprehenders, examining
    their ability to accommodate damage to the language system. We recorded event-related brain potentials (ERPs) in agrammatic comprehenders, nonagrammatic aphasics, and age-matched controls. When listening to sentences with grammatical violations, the agrammatic aphasics did not show the same syntax-related ERP effect as the two other subject groups. Instead, the waveforms of the agrammatic aphasics were dominated by a meaning-related ERP effect, presumably reflecting their attempts to achieve understanding by the use of semantic constraints. These data demonstrate that although agrammatic aphasics are impaired in their ability to exploit syntactic information in real time, they can reduce the consequences of a syntactic deficit by exploiting a semantic route. They thus provide evidence for the compensation of a syntactic deficit by a stronger reliance on another route in mapping
    sound onto meaning. This is a form of plasticity that we refer to as multiple-route plasticity.
  • Hagoort, P. (1998). De electrofysiologie van taal: Wat hersenpotentialen vertellen over het menselijk taalvermogen. Neuropraxis, 2, 223-229.
  • Hagoort, P. (1998). De spreker als sprinter. Psychologie, 17, 48-49.
  • Hagoort, P. (2003). How the brain solves the binding problem for language: A neurocomputational model of syntactic processing. NeuroImage, 20(suppl. 1), S18-S29. doi:10.1016/j.neuroimage.2003.09.013.

    Abstract

    Syntax is one of the components in the architecture of language processing that allows the listener/reader to bind single-word information into a unified interpretation of multiword utterances. This paper discusses ERP effects that have been observed in relation to syntactic processing. The fact that these effects differ from the semantic N400 indicates that the brain honors the distinction between semantic and syntactic binding operations. Two models of syntactic processing attempt to account for syntax-related ERP effects. One type of model is serial, with a first phase that is purely syntactic in nature (syntax-first model). The other type of model is parallel and assumes that information immediately guides the interpretation process once it becomes available. This is referred to as the immediacy model. ERP evidence is presented in support of the latter model. Next, an explicit computational model is proposed to explain the ERP data. This Unification Model assumes that syntactic frames are stored in memory and retrieved on the basis of the spoken or written word form input. The syntactic frames associated with the individual lexical items are unified by a dynamic binding process into a structural representation that spans the whole utterance. On the basis of a meta-analysis of imaging studies on syntax, it is argued that the left posterior inferior frontal cortex is involved in binding syntactic frames together, whereas the left superior temporal cortex is involved in retrieval of the syntactic frames stored in memory. Lesion data that support the involvement of this left frontotemporal network in syntactic processing are discussed.
  • Hagoort, P., Hald, L. A., Bastiaansen, M. C. M., & Petersson, K. M. (2004). Integration of word meaning and world knowledge in language comprehension. Science, 304(5669), 438-441. doi:10.1126/science.1095455.

    Abstract

    Although the sentences that we hear or read have meaning, this does not necessarily mean that they are also true. Relatively little is known about the critical brain structures for, and the relative time course of, establishing the meaning and truth of linguistic expressions. We present electroencephalogram data that show the rapid parallel integration of both semantic and world
    knowledge during the interpretation of a sentence. Data from functional magnetic resonance imaging revealed that the left inferior prefrontal cortex is involved in the integration of both meaning and world knowledge. Finally, oscillatory brain responses indicate that the brain keeps a record of what makes a sentence hard to interpret.
  • Hagoort, P. (2003). Interplay between syntax and semantics during sentence comprehension: ERP effects of combining syntactic and semantic violations. Journal of Cognitive Neuroscience, 15(6), 883-899. doi:10.1162/089892903322370807.

    Abstract

    This study investigated the effects of combined semantic and syntactic violations in relation to the effects of single semantic and single syntactic violations on language-related event-related brain potential (ERP) effects (N400 and P600/ SPS). Syntactic violations consisted of a mismatch in grammatical gender or number features of the definite article and the noun in sentence-internal or sentence-final noun phrases (NPs). Semantic violations consisted of semantically implausible adjective–noun combinations in the same NPs. Combined syntactic and semantic violations were a summation of these two respective violation types. ERPs were recorded while subjects read the sentences with the different types of violations and the correct control sentences. ERP effects were computed relative to ERPs elicited by the sentence-internal or sentence-final nouns. The size of the N400 effect to the semantic violation was increased by an additional syntactic violation (the syntactic boost). In contrast, the size of the P600/ SPS to the syntactic violation was not affected by an additional semantic violation. This suggests that in the absence of syntactic ambiguity, the assignment of syntactic structure is independent of semantic context. However, semantic integration is influenced by syntactic processing. In the sentence-final position, additional global processing consequences were obtained as a result of earlier violations in the sentence. The resulting increase in the N400 amplitude to sentence-final words was independent of the nature of the violation. A speeded anomaly detection task revealed that it takes substantially longer to detect semantic than syntactic anomalies. These results are discussed in relation to the latency and processing characteristics of the N400 and P600/SPS effects. Overall, the results reveal an asymmetry in the interplay between syntax and semantics during on-line sentence comprehension.
  • Hagoort, P. (1998). Hersenen en taal in onderzoek en praktijk. Neuropraxis, 6, 204-205.
  • Hagoort, P. (2018). Prerequisites for an evolutionary stance on the neurobiology of language. Current Opinion in Behavioral Sciences, 21, 191-194. doi:10.1016/j.cobeha.2018.05.012.
  • Hahn, L. E., Benders, T., Snijders, T. M., & Fikkert, P. (2018). Infants' sensitivity to rhyme in songs. Infant Behavior and Development, 52, 130-139. doi:10.1016/j.infbeh.2018.07.002.

    Abstract

    Children’s songs often contain rhyming words at phrase endings. In this study, we investigated whether infants can already recognize this phonological pattern in songs. Earlier studies using lists of spoken words were equivocal on infants’ spontaneous processing of rhymes (Hayes, Slater, & Brown, 2000; Jusczyk, Goodman, & Baumann, 1999). Songs, however, constitute an ecologically valid rhyming stimulus, which could allow for spontaneous processing of this phonological pattern in infants. Novel children’s songs with rhyming and non-rhyming lyrics using pseudo-words were presented to 35 9-month-old Dutch infants using the Headturn Preference Procedure. Infants on average listened longer to the non-rhyming songs, with around half of the infants however exhibiting a preference for the rhyming songs. These results highlight that infants have the processing abilities to benefit from their natural rhyming input for the development of their phonological abilities.
  • Hall, M. L., Ahn, D., Mayberry, R. I., & Ferreira, V. S. (2015). Production and comprehension show divergent constituent order preferences: Evidence from elicited pantomime. Journal of Memory and Language, 81, 16-33. doi:10.1016/j.jml.2014.12.003.

    Abstract

    All natural languages develop devices to communicate who did what to whom. Elicited pantomime provides one model for studying this process, by providing a window into how humans (hearing non-signers) behave in a natural communicative modality (silent gesture) without established conventions from a grammar. Most studies in this paradigm focus on production, although they sometimes make assumptions about how comprehenders would likely behave. Here, we directly assess how naïve speakers of English (Experiments 1 & 2), Korean (Experiment 1), and Turkish (Experiment 2) comprehend pantomimed descriptions of transitive events, which are either semantically reversible (Experiments 1 & 2) or not (Experiment 2). Contrary to previous assumptions, we find no evidence that Person-Person-Action sequences are ambiguous to comprehenders, who simply adopt an agent-first parsing heuristic for all constituent orders. We do find that Person-Action-Person sequences yield the most consistent interpretations, even in native speakers of SOV languages. The full range of behavior in both production and comprehension provides counter-evidence to the notion that producers’ utterances are motivated by the needs of comprehenders. Instead, we argue that production and comprehension are subject to different sets of cognitive pressures, and that the dynamic interaction between these competing pressures can help explain synchronic and diachronic constituent order phenomena in natural human languages, both signed and spoken.
  • Hammarström, H. (2015). Ethnologue 16/17/18th editions: A comprehensive review. Language, 91, 723-737. doi:10.1353/lan.2015.0038.

    Abstract

    Ethnologue (http://www.ethnologue.com) is the most widely consulted inventory of the world’slanguages used today. The present review article looks carefully at the goals and description of the content of the Ethnologue’s 16th, 17th, and 18th editions, and reports on a comprehensive survey of the accuracy of the inventory itself. While hundreds of spurious and missing languages can be documented for Ethnologue, it is at present still better than any other nonderivative work of the same scope, in all aspects but one. Ethnologue fails to disclose the sources for the information presented, at odds with well-established scientific principles. The classification of languages into families in Ethnologue is also evaluated, and found to be far off from that argued in the specialist literature on the classification of individual languages. Ethnologue is frequently held to be splitting: that is, it tends to recognize more languages than an application of the criterion of mutual intelligibility would yield. By means of a random sample, we find that, indeed, with confidence intervals, the number of mutually unintelligible languages is on average 85% of the number found in Ethnologue. © 2015, Linguistic Society of America. All rights reserved.
  • Hammarström, H. (2015). Ethnologue 16/17/18th editions: A comprehensive review: Online appendices. Language, 91(3), s1-s188. doi:10.1353/lan.2015.0049.
  • Hanique, I., Ernestus, M., & Boves, L. (2015). Choice and pronunciation of words: Individual differences within a homogeneous group of speakers. Corpus Linguistics and Linguistic Theory, 11, 161-185. doi:10.1515/cllt-2014-0025.

    Abstract

    This paper investigates whether individual speakers forming a homogeneous group differ in their choice and pronunciation of words when engaged in casual conversation, and if so, how they differ. More specifically, it examines whether the Balanced Winnow classifier is able to distinguish between the twenty speakers of the Ernestus Corpus of Spontaneous Dutch, who all have the same social background. To examine differences in choice and pronunciation of words, instead of characteristics of the speech signal itself, classification was based on lexical and pronunciation features extracted from hand-made orthographic and automatically generated broad phonetic transcriptions. The lexical features consisted of words and two-word combinations. The pronunciation features represented pronunciation variations at the word and phone level that are typical for casual speech. The best classifier achieved a performance of 79.9% and was based on the lexical features and on the pronunciation features representing single phones and triphones. The speakers must thus differ from each other in these features. Inspection of the relevant features indicated that, among other things, the words relevant for classification generally do not contain much semantic content, and that speakers differ not only from each other in the use of these words but also in their pronunciation.
  • Hannerfors, A.-K., Hellgren, C., Schijven, D., Iliadis, S. I., Comasco, E., Skalkidou, A., Olivier, J. D., & Sundström-Poromaa, I. (2015). Treatment with serotonin reuptake inhibitors during pregnancy is associated with elevated corticotropin-releasing hormone levels. Psychoneuroendocrinology, 58, 104-113. doi:10.1016/j.psyneuen.2015.04.009.

    Abstract

    Treatment with serotonin reuptake inhibitors (SSRI) has been associated with an increased risk of preterm birth, but causality remains unclear. While placental CRH production is correlated with gestational length and preterm birth, it has been difficult to establish if psychological stress or mental health problems are associated with increased CRH levels. This study compared second trimester CRH serum concentrations in pregnant women on SSRI treatment (n=207) with untreated depressed women (n=56) and controls (n=609). A secondary aim was to investigate the combined effect of SSRI treatment and CRH levels on gestational length and risk for preterm birth. Women on SSRI treatment had significantly higher second trimester CRH levels than controls, and untreated depressed women. CRH levels and SSRI treatment were independently associated with shorter gestational length. The combined effect of SSRI treatment and high CRH levels yielded the highest risk estimate for preterm birth. SSRI treatment during pregnancy is associated with increased CRH levels. However, the elevated risk for preterm birth in SSRI users appear not to be mediated by increased placental CRH production, instead CRH appear as an independent risk factor for shorter gestational length and preterm birth.
  • Hardies, K., De Kovel, C. G. F., Weckhuysen, S., Asselbergh, B., Geuens, T., Deconinck, T., Azmi, A., May, P., Brilstra, E., Becker, F., Barisic, N., Craiu, D., Braun, K. P. J., Lal, D., Thiele, H., Schubert, J., Weber, Y., van't Slot, R., Nurnberg, P., Balling, R. and 8 moreHardies, K., De Kovel, C. G. F., Weckhuysen, S., Asselbergh, B., Geuens, T., Deconinck, T., Azmi, A., May, P., Brilstra, E., Becker, F., Barisic, N., Craiu, D., Braun, K. P. J., Lal, D., Thiele, H., Schubert, J., Weber, Y., van't Slot, R., Nurnberg, P., Balling, R., Timmerman, V., Lerche, H., Maudsley, S., Helbig, I., Suls, A., Koeleman, B. P. C., De Jonghe, P., & Euro Res Consortium, E. (2015). Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain., 138(11), 3238-3250. doi:10.1093/brain/awv263.

    Abstract

    The epileptic encephalopathies are a clinically and aetiologically heterogeneous subgroup of epilepsy syndromes. Most epileptic encephalopathies have a genetic cause and patients are often found to carry a heterozygous de novo mutation in one of the genes associated with the disease entity. Occasionally recessive mutations are identified: a recent publication described a distinct neonatal epileptic encephalopathy (MIM 615905) caused by autosomal recessive mutations in the SLC13A5 gene. Here, we report eight additional patients belonging to four different families with autosomal recessive mutations in SLC13A5. SLC13A5 encodes a high affinity sodium-dependent citrate transporter, which is expressed in the brain. Neurons are considered incapable of de novo synthesis of tricarboxylic acid cycle intermediates; therefore they rely on the uptake of intermediates, such as citrate, to maintain their energy status and neurotransmitter production. The effect of all seven identified mutations (two premature stops and five amino acid substitutions) was studied in vitro, using immunocytochemistry, selective western blot and mass spectrometry. We hereby demonstrate that cells expressing mutant sodium-dependent citrate transporter have a complete loss of citrate uptake due to various cellular loss-of-function mechanisms. In addition, we provide independent proof of the involvement of autosomal recessive SLC13A5 mutations in the development of neonatal epileptic encephalopathies, and highlight teeth hypoplasia as a possible indicator for SLC13A5 screening. All three patients who tried the ketogenic diet responded well to this treatment, and future studies will allow us to ascertain whether this is a recurrent feature in this severe disorder.
  • Hasson, U., Egidi, G., Marelli, M., & Willems, R. M. (2018). Grounding the neurobiology of language in first principles: The necessity of non-language-centric explanations for language comprehension. Cognition, 180(1), 135-157. doi:10.1016/j.cognition.2018.06.018.

    Abstract

    Recent decades have ushered in tremendous progress in understanding the neural basis of language. Most of our current knowledge on language and the brain, however, is derived from lab-based experiments that are far removed from everyday language use, and that are inspired by questions originating in linguistic and psycholinguistic contexts. In this paper we argue that in order to make progress, the field needs to shift its focus to understanding the neurobiology of naturalistic language comprehension. We present here a new conceptual framework for understanding the neurobiological organization of language comprehension. This framework is non-language-centered in the computational/neurobiological constructs it identifies, and focuses strongly on context. Our core arguments address three general issues: (i) the difficulty in extending language-centric explanations to discourse; (ii) the necessity of taking context as a serious topic of study, modeling it formally and acknowledging the limitations on external validity when studying language comprehension outside context; and (iii) the tenuous status of the language network as an explanatory construct. We argue that adopting this framework means that neurobiological studies of language will be less focused on identifying correlations between brain activity patterns and mechanisms postulated by psycholinguistic theories. Instead, they will be less self-referential and increasingly more inclined towards integration of language with other cognitive systems, ultimately doing more justice to the neurobiological organization of language and how it supports language as it is used in everyday life.
  • Haun, D. B. M. (2003). What's so special about spatial cognition. De Psychonoom, 18, 3-4.
  • Havron, N., Raviv, L., & Arnon, I. (2018). Literate and preliterate children show different learning patterns in an artificial language learning task. Journal of Cultural Cognitive Science, 2, 21-33. doi:10.1007/s41809-018-0015-9.

    Abstract

    Literacy affects many aspects of cognitive and linguistic processing. Among them, it increases the salience of words as units of linguistic processing. Here, we explored the impact of literacy acquisition on children’s learning of an artifical language. Recent accounts of L1–L2 differences relate adults’ greater difficulty with language learning to their smaller reliance on multiword units. In particular, multiword units are claimed to be beneficial for learning opaque grammatical relations like grammatical gender. Since literacy impacts the reliance on words as units of processing, we ask if and how acquiring literacy may change children’s language-learning results. We looked at children’s success in learning novel noun labels relative to their success in learning article-noun gender agreement, before and after learning to read. We found that preliterate first graders were better at learning agreement (larger units) than at learning nouns (smaller units), and that the difference between the two trial types significantly decreased after these children acquired literacy. In contrast, literate third graders were as good in both trial types. These findings suggest that literacy affects not only language processing, but also leads to important differences in language learning. They support the idea that some of children’s advantage in language learning comes from their previous knowledge and experience with language—and specifically, their lack of experience with written texts.
  • Hayano, K. (2004). Kaiwa ni okeru ninshikiteki ken’i no koushou: Shuujoshi yo, ne, odoroki hyouji no bunpu to kinou [Negotiation of Epistemic Authority in Conversation: on the use of final particles yo, ne and surprise markers]. Studies in Pragmatics, 6, 17-28.
  • Hayano, K. (2003). Self-presentation as a face-threatening act: A comparative study of self-oriented topic introduction in English and Japanese. Veritas, 24, 45-58.
  • Hebebrand, J., Peters, T., Schijven, D., Hebebrand, M., Grasemann, C., Winkler, T. W., Heid, I. M., Antel, J., Föcker, M., Tegeler, L., Brauner, L., Adan, R. A., Luykx, J. J., Correll, C. U., König, I. R., Hinney, A., & Libuda, L. (2018). The role of genetic variation of human metabolism for BMI, mental traits and mental disorders. Molecular Metabolism, 12, 1-11. doi:10.1016/j.molmet.2018.03.015.

    Abstract

    Objective
    The aim was to assess whether loci associated with metabolic traits also have a significant role in BMI and mental traits/disorders
    Methods
    We first assessed the number of single nucleotide polymorphisms (SNPs) with genome-wide significance for human metabolism (NHGRI-EBI Catalog). These 516 SNPs (216 independent loci) were looked-up in genome-wide association studies for association with body mass index (BMI) and the mental traits/disorders educational attainment, neuroticism, schizophrenia, well-being, anxiety, depressive symptoms, major depressive disorder, autism-spectrum disorder, attention-deficit/hyperactivity disorder, Alzheimer's disease, bipolar disorder, aggressive behavior, and internalizing problems. A strict significance threshold of p < 6.92 × 10−6 was based on the correction for 516 SNPs and all 14 phenotypes, a second less conservative threshold (p < 9.69 × 10−5) on the correction for the 516 SNPs only.
    Results
    19 SNPs located in nine independent loci revealed p-values < 6.92 × 10−6; the less strict criterion was met by 41 SNPs in 24 independent loci. BMI and schizophrenia showed the most pronounced genetic overlap with human metabolism with three loci each meeting the strict significance threshold. Overall, genetic variation associated with estimated glomerular filtration rate showed up frequently; single metabolite SNPs were associated with more than one phenotype. Replications in independent samples were obtained for BMI and educational attainment.
    Conclusions
    Approximately 5–10% of the regions involved in the regulation of blood/urine metabolite levels seem to also play a role in BMI and mental traits/disorders and related phenotypes. If validated in metabolomic studies of the respective phenotypes, the associated blood/urine metabolites may enable novel preventive and therapeutic strategies.
  • Heeschen, C., Ryalls, J., & Hagoort, P. (1988). Psychological stress in Broca's versus Wernicke's aphasia. Clinical Linguistics & Phonetics, 2, 309-316. doi:10.3109/02699208808985262.

    Abstract

    We advance the hypothesis here that the higher-than-average vocal pitch (FO) found for speech of Broca's aphasics in experimental settings is due, in part, to increased psychological stress. Two experiments were conducted which manipulated conversational constraints and the sentence forms to be produced by aphasic patients. Our study revealed significant differences between changes in vocal pitch of agrammatic Broca's aphasics versus those of Wernicke's aphasics and normal controls. It is suggested that the greater psychological stress experienced by the Broca's aphasics, but not by the Wernicke's aphasics, accounts for these observed differences.
  • Heidlmayr, K., Hemforth, B., Moutier, S., & Isel, F. (2015). Neurodynamics of executive control processes in bilinguals: Evidence from ERP and source reconstruction analyses. Frontiers in Psychology, 6: 821. doi:10.3389/fpsyg.2015.00821.

    Abstract

    The present study was designed to examine the impact of bilingualism on the neuronal activity in different executive control processes namely conflict monitoring, control implementation (i.e., interference suppression and conflict resolution) and overcoming of inhibition. Twenty-two highly proficient but non-balanced successive French–German bilingual adults and 22 monolingual adults performed a combined Stroop/Negative priming task while event-related potential (ERP) were recorded online. The data revealed that the ERP effects were reduced in bilinguals in comparison to monolinguals but only in the Stroop task and limited to the N400 and the sustained fronto-central negative-going potential time windows. This result suggests that bilingualism may impact the process of control implementation rather than the process of conflict monitoring (N200). Critically, our study revealed a differential time course of the involvement of the anterior cingulate cortex (ACC) and the prefrontal cortex (PFC) in conflict processing. While the ACC showed major activation in the early time windows (N200 and N400) but not in the latest time window (late sustained negative-going potential), the PFC became unilaterally active in the left hemisphere in the N400 and the late sustained negative-going potential time windows. Taken together, the present electroencephalography data lend support to a cascading neurophysiological model of executive control processes, in which ACC and PFC may play a determining role.
  • Henderson, L., Coltheart, M., Cutler, A., & Vincent, N. (1988). Preface. Linguistics, 26(4), 519-520. doi:10.1515/ling.1988.26.4.519.
  • Hersh, T. A., Dimond, A. L., Ruth, B. A., Lupica, N. V., Bruce, J. C., Kelley, J. M., King, B. L., & Lutton, B. V. (2018). A role for the CXCR4-CXCL12 axis in the little skate, Leucoraja erinacea. American Journal of Physiology-Regulatory, Integrative and Comparative Physiology, 315, R218-R229. doi:10.1152/ajpregu.00322.2017.

    Abstract

    The interaction between C-X-C chemokine receptor type 4 (CXCR4) and its cognate ligand C-X-C motif chemokine ligand 12 (CXCL12) plays a critical role in regulating hematopoietic stem cell activation and subsequent cellular mobilization. Extensive studies of these genes have been conducted in mammals, but much less is known about the expression and function of CXCR4 and CXCL12 in non-mammalian vertebrates. In the present study, we identify simultaneous expression of CXCR4 and CXCL12 orthologs in the epigonal organ (the primary hematopoietic tissue) of the little skate, Leucoraja erinacea. Genetic and phylogenetic analyses were functionally supported by significant mobilization of leukocytes following administration of Plerixafor, a CXCR4 antagonist and clinically important drug. Our results provide evidence that, as in humans, Plerixafor disrupts CXCR4/CXCL12 binding in the little skate, facilitating release of leukocytes into the bloodstream. Our study illustrates the value of the little skate as a model organism, particularly in studies of hematopoiesis and potentially for preclinical research on hematological and vascular disorders.

    Files private

    Request files
  • Hervais-Adelman, A., Egorova, N., & Golestani, N. (2018). Beyond bilingualism: Multilingual experience correlates with caudate volume. Brain Structure and Function, 223(7), 3495-3502. doi:10.1007/s00429-018-1695-0.

    Abstract

    The multilingual brain implements mechanisms that serve to select the appropriate language as a function of the communicative environment. Engaging these mechanisms on a regular basis appears to have consequences for brain structure and function. Studies have implicated the caudate nuclei as important nodes in polyglot language control processes, and have also shown structural differences in the caudate nuclei in bilingual compared to monolingual populations. However, the majority of published work has focused on the categorical differences between monolingual and bilingual individuals, and little is known about whether these findings extend to multilingual individuals, who have even greater language control demands. In the present paper, we present an analysis of the volume and morphology of the caudate nuclei, putamen, pallidum and thalami in 75 multilingual individuals who speak three or more languages. Volumetric analyses revealed a significant relationship between multilingual experience and right caudate volume, as well as a marginally significant relationship with left caudate volume. Vertex-wise analyses revealed a significant enlargement of dorsal and anterior portions of the left caudate nucleus, known to have connectivity with executive brain regions, as a function of multilingual expertise. These results suggest that multilingual expertise might exercise a continuous impact on brain structure, and that as additional languages beyond a second are acquired, the additional demands for linguistic and cognitive control result in modifications to brain structures associated with language management processes.
  • Hervais-Adelman, A., Moser-Mercer, B., & Golestani, N. (2015). Brain functional plasticity associated with the emergence of expertise in extreme language control. NeuroImage, 114, 264-274. doi:10.1016/j.neuroimage.2015.03.072.

    Abstract

    We used functional magnetic resonance imaging (fMRI) to longitudinally examine brain plasticity arising from long-term, intensive simultaneous interpretation training. Simultaneous interpretation is a bilingual task with heavy executive control demands. We compared brain responses observed during simultaneous interpretation with those observed during simultaneous speech repetition (shadowing) in a group of trainee simultaneous interpreters, at the beginning and at the end of their professional training program. Age, sex and language-proficiency matched controls were scanned at similar intervals. Using multivariate pattern classification, we found distributed patterns of changes in functional responses from the first to second scan that distinguished the interpreters from the controls. We also found reduced recruitment of the right caudate nucleus during simultaneous interpretation as a result of training. Such practice-related change is consistent with decreased demands on multilingual language control as the task becomes more automatized with practice. These results demonstrate the impact of simultaneous interpretation training on the brain functional response in a cerebral structure that is not specifically linguistic, but that is known to be involved in learning, in motor control, and in a variety of domain-general executive functions. Along with results of recent studies showing functional and structural adaptations in the caudate nuclei of experts in a broad range of domains, our results underline the importance of this structure as a central node in expertise-related networks. (C) 2015 Elsevier Inc. All rights reserved.
  • Hervais-Adelman, A., Moser-Mercer, B., & Golestani, N. (2018). Commentary: Broca pars triangularis constitutes a “hub” of the language-control network during simultaneous language translation. Frontiers in Human Neuroscience, 12: 22. doi:10.3389/fnhum.2018.00022.

    Abstract

    A commentary on
    Broca Pars Triangularis Constitutes a “Hub” of the Language-Control Network during Simultaneous Language Translation

    by Elmer, S. (2016). Front. Hum. Neurosci. 10:491. doi: 10.3389/fnhum.2016.00491

    Elmer (2016) conducted an fMRI investigation of “simultaneous language translation” in five participants. The article presents group and individual analyses of German-to-Italian and Italian-to-German translation, confined to a small set of anatomical regions previously reported to be involved in multilingual control. Here we take the opportunity to discuss concerns regarding certain aspects of the study.
  • Hervais-Adelman, A., Moser-Mercer, B., Michel, C. M., & Golestani, N. (2015). fMRI of simultaneous interpretation reveals the neural basis of extreme language control. Cerebral Cortex, 25(12), 4727-4739. doi:10.1093/cercor/bhu158.

    Abstract

    We used functional magnetic resonance imaging (fMRI) to examine the neural basis of extreme multilingual language control in a group of 50 multilingual participants. Comparing brain responses arising during simultaneous interpretation (SI) with those arising during simultaneous repetition revealed activation of regions known to be involved in speech perception and production, alongside a network incorporating the caudate nucleus that is known to be implicated in domain-general cognitive control. The similarity between the networks underlying bilingual language control and general executive control supports the notion that the frequently reported bilingual advantage on executive tasks stems from the day-to-day demands of language control in the multilingual brain. We examined neural correlates of the management of simultaneity by correlating brain activity during interpretation with the duration of simultaneous speaking and hearing. This analysis showed significant modulation of the putamen by the duration of simultaneity. Our findings suggest that, during SI, the caudate nucleus is implicated in the overarching selection and control of the lexico-semantic system, while the putamen is implicated in ongoing control of language output. These findings provide the first clear dissociation of specific dorsal striatum structures in polyglot language control, roles that are consistent with previously described involvement of these regions in nonlinguistic executive control.
  • Hervais-Adelman, A., Legrand, L. B., Zhan, M. Y., Tamietto, M., de Gelder, B., & Pegna, A. J. (2015). Looming sensitive cortical regions without V1 input: Evidence from a patient with bilateral cortical blindness. Frontiers in Integrative Neuroscience, 9: 51. doi:10.3389/fnint.2015.00051.

    Abstract

    Fast and automatic behavioral responses are required to avoid collision with an approaching stimulus. Accordingly, looming stimuli have been found to be highly salient and efficient attractors of attention due to the implication of potential collision and potential threat. Here, we address the question of whether looming motion is processed in the absence of any functional primary visual cortex and consequently without awareness. For this, we investigated a patient (TN) suffering from complete, bilateral damage to his primary visual cortex. Using an fMRI paradigm, we measured TN's brain activation during the presentation of looming, receding, rotating, and static point lights, of which he was unaware. When contrasted with other conditions, looming was found to produce bilateral activation of the middle temporal areas, as well as the superior temporal sulcus and inferior parietal lobe (IPL). The latter are generally thought to be involved in multisensory processing of motion in extrapersonal space, as well as attentional capture and saliency. No activity was found close to the lesioned V1 area. This demonstrates that looming motion is processed in the absence of awareness through direct subcortical projections to areas involved in multisensory processing of motion and saliency that bypass V-1.
  • Heyne, H. O., Singh, T., Stamberger, H., Jamra, R. A., Caglayan, H., Craiu, D., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., May, P., Muhle, H., Møller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S., Wu, S. and 9 moreHeyne, H. O., Singh, T., Stamberger, H., Jamra, R. A., Caglayan, H., Craiu, D., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., May, P., Muhle, H., Møller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S., Wu, S., EuroEPINOMICS RES Consortium, De Kovel, C. G. F., Poduri, A., Weber, Y. G., Weckhuysen, S., Sisodiya, S. M., Daly, M. J., Helbig, I., Lal, D., & Lemke, J. R. (2018). De novo variants in neurodevelopmental disorders with epilepsy. Nature Genetics, 50, 1048-1053. doi:10.1038/s41588-018-0143-7.

    Abstract

    Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent–offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.
  • Heyselaar, E., Mazaheri, A., Hagoort, P., & Segaert, K. (2018). Changes in alpha activity reveal that social opinion modulates attention allocation during face processing. NeuroImage, 174, 432-440. doi:10.1016/j.neuroimage.2018.03.034.

    Abstract

    Participants’ performance differs when conducting a task in the presence of a secondary individual, moreover the opinion the participant has of this individual also plays a role. Using EEG, we investigated how previous interactions with, and evaluations of, an avatar in virtual reality subsequently influenced attentional allocation to the face of that avatar. We focused on changes in the alpha activity as an index of attentional allocation. We found that the onset of an avatar’s face whom the participant had developed a rapport with induced greater alpha suppression. This suggests greater attentional resources are allocated to the interacted-with avatars. The evaluative ratings of the avatar induced a U-shaped change in alpha suppression, such that participants paid most attention when the avatar was rated as average. These results suggest that attentional allocation is an important element of how behaviour is altered in the presence of a secondary individual and is modulated by our opinion of that individual.

    Additional information

    mmc1.docx
  • Hibar, D. P., Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., Jahanshad, N., Toro, R., Wittfeld, K., Abramovic, L., Andersson, M., Aribisala, B. S., Armstrong, N. J., Bernard, M., Bohlken, M. M., Boks, M. P., Bralten, J., Brown, A. A., Chakravarty, M. M., Chen, Q., Ching, C. R. K. and 267 moreHibar, D. P., Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., Jahanshad, N., Toro, R., Wittfeld, K., Abramovic, L., Andersson, M., Aribisala, B. S., Armstrong, N. J., Bernard, M., Bohlken, M. M., Boks, M. P., Bralten, J., Brown, A. A., Chakravarty, M. M., Chen, Q., Ching, C. R. K., Cuellar-Partida, G., den Braber, A., Giddaluru, S., Goldman, A. L., Grimm, O., Guadalupe, T., Hass, J., Woldehawariat, G., Holmes, A. J., Hoogman, M., Janowitz, D., Jia, T., Kim, S., Klein, M., Kraemer, B., Lee, P. H., Olde Loohuis, L. M., Luciano, M., Macare, C., Mather, K. A., Mattheisen, M., Milaneschi, Y., Nho, K., Papmeyer, M., Ramasamy, A., Risacher, S. L., Roiz-Santiañez, R., Rose, E. J., Salami, A., Sämann, P. G., Schmaal, L., Schork, A. J., Shin, J., Strike, L. T., Teumer, A., Van Donkelaar, M. M. J., Van Eijk, K. R., Walters, R. K., Westlye, L. T., Whelan, C. D., Winkler, A. M., Zwiers, M. P., Alhusaini, S., Athanasiu, L., Ehrlich, S., Hakobjan, M. M. H., Hartberg, C. B., Haukvik, U. K., Heister, A. J. G. A. M., Hoehn, D., Kasperaviciute, D., Liewald, D. C. M., Lopez, L. M., Makkinje, R. R. R., Matarin, M., Naber, M. A. M., McKay, D. R., Needham, M., Nugent, A. C., Pütz, B., Royle, N. A., Shen, L., Sprooten, E., Trabzuni, D., Van der Marel, S. S. L., Van Hulzen, K. J. E., Walton, E., Wolf, C., Almasy, L., Ames, D., Arepalli, S., Assareh, A. A., Bastin, M. E., Brodaty, H., Bulayeva, K. B., Carless, M. A., Cichon, S., Corvin, A., Curran, J. E., Czisch, M., De Zubicaray, G. I., Dillman, A., Duggirala, R., Dyer, T. D., Erk, S., Fedko, I. O., Ferrucci, L., Foroud, T. M., Fox, P. T., Fukunaga, M., Gibbs, J. R., Göring, H. H. H., Green, R. C., Guelfi, S., Hansell, N. K., Hartman, C. A., Hegenscheid, K., Heinz, A., Hernandez, D. G., Heslenfeld, D. J., Hoekstra, P. J., Holsboer, F., Homuth, G., Hottenga, J.-J., Ikeda, M., Jack, C. R., Jenkinson, M., Johnson, R., Kanai, R., Keil, M., Kent, J. W., Kochunov, P., Kwok, J. B., Lawrie, S. M., Liu, X., Longo, D. L., McMahon, K. L., Meisenzahl, E., Melle, I., Mohnke, S., Montgomery, G. W., Mostert, J. C., Mühleisen, T. W., Nalls, M. A., Nichols, T. E., Nilsson, L. G., Nöthen, M. M., Ohi, K., Olvera, R. L., Perez-Iglesias, R., Pike, G. B., Potkin, S. G., Reinvang, I., Reppermund, S., Rietschel, M., Romanczuk-Seiferth, N., Rosen, G. D., Rujescu, D., Schnell, K., Schofield, P. R., Smith, C., Steen, V. M., Sussmann, J. E., Thalamuthu, A., Toga, A. W., Traynor, B. J., Troncoso, J., Turner, J. A., Valdes Hernández, M. C., van Ent, D. ’., Van der Brug, M., Van der Wee, N. J. A., Van Tol, M.-J., Veltman, D. J., Wassink, T. H., Westman, E., Zielke, R. H., Zonderman, A. B., Ashbrook, D. G., Hager, R., Lu, L., McMahon, F. J., Morris, D. W., Williams, R. W., Brunner, H. G., Buckner, R. L., Buitelaar, J. K., Cahn, W., Calhoun, V. D., Cavalleri, G. L., Crespo-Facorro, B., Dale, A. M., Davies, G. E., Delanty, N., Depondt, C., Djurovic, S., Drevets, W. C., Espeseth, T., Gollub, R. L., Ho, B.-C., Hoffmann, W., Hosten, N., Kahn, R. S., Le Hellard, S., Meyer-Lindenberg, A., Müller-Myhsok, B., Nauck, M., Nyberg, L., Pandolfo, M., Penninx, B. W. J. H., Roffman, J. L., Sisodiya, S. M., Smoller, J. W., Van Bokhoven, H., Van Haren, N. E. M., Völzke, H., Walter, H., Weiner, M. W., Wen, W., White, T., Agartz, I., Andreassen, O. A., Blangero, J., Boomsma, D. I., Brouwer, R. M., Cannon, D. M., Cookson, M. R., De Geus, E. J. C., Deary, I. J., Donohoe, G., Fernández, G., Fisher, S. E., Francks, C., Glahn, D. C., Grabe, H. J., Gruber, O., Hardy, J., Hashimoto, R., Hulshoff Pol, H. E., Jönsson, E. G., Kloszewska, I., Lovestone, S., Mattay, V. S., Mecocci, P., McDonald, C., McIntosh, A. M., Ophoff, R. A., Paus, T., Pausova, Z., Ryten, M., Sachdev, P. S., Saykin, A. J., Simmons, A., Singleton, A., Soininen, H., Wardlaw, J. M., Weale, M. E., Weinberger, D. R., Adams, H. H. H., Launer, L. J., Seiler, S., Schmidt, R., Chauhan, G., Satizabal, C. L., Becker, J. T., Yanek, L., van der Lee, S. J., Ebling, M., Fischl, B., Longstreth, W. T., Greve, D., Schmidt, H., Nyquist, P., Vinke, L. N., Van Duijn, C. M., Xue, L., Mazoyer, B., Bis, J. C., Gudnason, V., Seshadri, S., Ikram, M. A., The Alzheimer’s Disease Neuroimaging Initiative, The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Martin, N. G., Wright, M. J., Schumann, G., Franke, B., Thompson, P. M., & Medland, S. E. (2015). Common genetic variants influence human subcortical brain structures. Nature, 520, 224-229. doi:10.1038/nature14101.

    Abstract

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10-33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction

    Files private

    Request files
  • Hilbrink, E., Gattis, M., & Levinson, S. C. (2015). Early developmental changes in the timing of turn-taking: A longitudinal study of mother-infant interaction. Frontiers in Psychology, 6: 1492. doi:10.3389/fpsyg.2015.01492.

    Abstract

    To accomplish a smooth transition in conversation from one speaker to the next, a tight coordination of interaction between speakers is required. Recent studies of adult conversation suggest that this close timing of interaction may well be a universal feature of conversation. In the present paper, we set out to assess the development of this close timing of turns in infancy in vocal exchanges between mothers and infants. Previous research has demonstrated an early sensitivity to timing in interactions (e.g. Murray & Trevarthen, 1985). In contrast, less is known about infants’ abilities to produce turns in a timely manner and existing findings are rather patchy. We conducted a longitudinal study of twelve mother-infant dyads in free-play interactions at the ages of 3, 4, 5, 9, 12 and 18 months. Based on existing work and the predictions made by the Interaction Engine Hypothesis (Levinson, 2006), we expected that infants would begin to develop the temporal properties of turn-taking early in infancy but that their timing of turns would slow down at 12 months, which is around the time when infants start to produce their first words. Findings were consistent with our predictions: Infants were relatively fast at timing their turn early in infancy but slowed down towards the end of the first year. Furthermore, the changes observed in infants’ turn-timing skills were not caused by changes in maternal timing, which remained stable across the 3-18 month period. However, the slowing down of turn-timing started somewhat earlier than predicted: at 9 months.
  • Hilverman, C., Clough, S., Duff, M. C., & Cook, S. W. (2018). Patients with hippocampal amnesia successfully integrate gesture and speech. Neuropsychologia, 117, 332-338. doi:10.1016/j.neuropsychologia.2018.06.012.

    Abstract

    During conversation, people integrate information from co-speech hand gestures with information in spoken language. For example, after hearing the sentence, "A piece of the log flew up and hit Carl in the face" while viewing a gesture directed at the nose, people tend to later report that the log hit Carl in the nose (information only in gesture) rather than in the face (information in speech). The cognitive and neural mechanisms that support the integration of gesture with speech are unclear. One possibility is that the hippocampus known for its role in relational memory and information integration is necessary for integrating gesture and speech. To test this possibility, we examined how patients with hippocampal amnesia and healthy and brain-damaged comparison participants express information from gesture in a narrative retelling task. Participants watched videos of an experimenter telling narratives that included hand gestures that contained supplementary information. Participants were asked to retell the narratives and their spoken retellings were assessed for the presence of information from gesture. For features that had been accompanied by supplementary gesture, patients with amnesia retold fewer of these features overall and fewer retellings that matched the speech from the narrative. Yet their retellings included features that contained information that had been present uniquely in. gesture in amounts that were not reliably different from comparison groups. Thus, a functioning hippocampus is not necessary for gesture-speech integration over short timescales. Providing unique information in gesture may enhance communication for individuals with declarative memory impairment, possibly via non-declarative memory mechanisms.
  • Hintz, F., & Meyer, A. S. (2015). Prediction and production of simple mathematical equations: Evidence from anticipatory eye movements. PLoS One, 10(7): e0130766. doi:10.1371/journal.pone.0130766.

    Abstract

    The relationship between the production and the comprehension systems has recently become a topic of interest for many psycholinguists. It has been argued that these systems are tightly linked and in particular that listeners use the production system to predict upcoming content. In this study, we tested how similar production and prediction processes are in a novel version of the visual world paradigm. Dutch speaking participants (native speakers in Experiment 1; German-Dutch bilinguals in Experiment 2) listened to mathematical equations while looking at a clock face featuring the numbers 1 to 12. On alternating trials, they either heard a complete equation ("three plus eight is eleven") or they heard the first part ("three plus eight is") and had to produce the result ("eleven") themselves. Participants were encouraged to look at the relevant numbers throughout the trial. Their eye movements were recorded and analyzed. We found that the participants' eye movements in the two tasks were overall very similar. They fixated the first and second number of the equations shortly after they were mentioned, and fixated the result number well before they named it on production trials and well before the recorded speaker named it on comprehension trials. However, all fixation latencies were shorter on production than on comprehension trials. These findings suggest that the processes involved in planning to say a word and anticipating hearing a word are quite similar, but that people are more aroused or engaged when they intend to respond than when they merely listen to another person.

    Additional information

    Data availability
  • Hoey, E. (2018). How speakers continue with talk after a lapse in conversation. Research on Language and Social Interaction, 51(3), 329-346. doi:10.1080/08351813.2018.1485234.

    Abstract

    How do conversational participants continue with turn-by-turn talk after a momentary lapse? If all participants forgo the option to speak at possible sequence completion, an extended silence may emerge that can indicate a lack of anything to talk about next. For the interaction to proceed recognizably as a conversation, the postlapse turn needs to implicate more talk. Using conversation analysis, I examine three practical alternatives regarding sequentially implicative postlapse turns: Participants may move to end the interaction, continue with some prior matter, or start something new. Participants are shown using resources grounded in the interaction’s overall structural organization, the materials from the interaction-so-far, the mentionables they bring to interaction, and the situated environment itself. Comparing these alternatives, there’s suggestive quantitative evidence for a preference for continuation. The analysis of lapse resolution shows lapses as places for the management of multiple possible courses of action. Data are in U.S. and UK English.
  • Hoey, E. (2015). Lapses: How people arrive at, and deal with, discontinuities in talk. Research on Language and Social Interaction, 48(4), 430-453. doi:10.1080/08351813.2015.1090116.

    Abstract

    Interaction includes moments of silence. When all participants forgo the option to speak, the silence can be called a “lapse.” This article builds on existing work on lapses and other kinds of silences (gaps, pauses, and so on) to examine how participants reach a point where lapsing is a possibility and how they orient to the lapse that subsequently develops. Drawing from a wide range of activities and settings, I will show that participants may treat lapses as (a) the relevant cessation of talk, (b) the allowable development of silence, or (c) the conspicuous absence of talk. Data are in American and British English.
  • Holler, J., Kendrick, K. H., Casillas, M., & Levinson, S. C. (2015). Editorial: Turn-taking in human communicative interaction. Frontiers in Psychology, 6: 1919. doi:10.3389/fpsyg.2015.01919.
  • Holler, J., Kokal, I., Toni, I., Hagoort, P., Kelly, S. D., & Ozyurek, A. (2015). Eye’m talking to you: Speakers’ gaze direction modulates co-speech gesture processing in the right MTG. Social Cognitive & Affective Neuroscience, 10, 255-261. doi:10.1093/scan/nsu047.

    Abstract

    Recipients process information from speech and co-speech gestures, but it is currently unknown how this processing is influenced by the presence of other important social cues, especially gaze direction, a marker of communicative intent. Such cues may modulate neural activity in regions associated either with the processing of ostensive cues, such as eye gaze, or with the processing of semantic information, provided by speech and gesture.
    Participants were scanned (fMRI) while taking part in triadic communication involving two recipients and a speaker. The speaker uttered sentences that
    were and were not accompanied by complementary iconic gestures. Crucially, the speaker alternated her gaze direction, thus creating two recipient roles: addressed (direct gaze) vs unaddressed (averted gaze) recipient. The comprehension of Speech&Gesture relative to SpeechOnly utterances recruited middle occipital, middle temporal and inferior frontal gyri, bilaterally. The calcarine sulcus and posterior cingulate cortex were sensitive to differences between direct and averted gaze. Most importantly, Speech&Gesture utterances, but not SpeechOnly utterances, produced additional activity in the right middle temporal gyrus when participants were addressed. Marking communicative intent with gaze direction modulates the processing of speech–gesture utterances in cerebral areas typically associated with the semantic processing of multi-modal communicative acts.
  • Holler, J., & Beattie, G. (2003). How iconic gestures and speech interact in the representation of meaning: are both aspects really integral to the process? Semiotica, 146, 81-116.
  • Holler, J., Kendrick, K. H., & Levinson, S. C. (2018). Processing language in face-to-face conversation: Questions with gestures get faster responses. Psychonomic Bulletin & Review, 25(5), 1900-1908. doi:10.3758/s13423-017-1363-z.

    Abstract

    The home of human language use is face-to-face interaction, a context in which communicative exchanges are characterised not only by bodily signals accompanying what is being said but also by a pattern of alternating turns at talk. This transition between turns is astonishingly fast—typically a mere 200-ms elapse between a current and a next speaker’s contribution—meaning that comprehending, producing, and coordinating conversational contributions in time is a significant challenge. This begs the question of whether the additional information carried by bodily signals facilitates or hinders language processing in this time-pressured environment. We present analyses of multimodal conversations revealing that bodily signals appear to profoundly influence language processing in interaction: Questions accompanied by gestures lead to shorter turn transition times—that is, to faster responses—than questions without gestures, and responses come earlier when gestures end before compared to after the question turn has ended. These findings hold even after taking into account prosodic patterns and other visual signals, such as gaze. The empirical findings presented here provide a first glimpse of the role of the body in the psycholinguistic processes underpinning human communication
  • Holler, J., & Beattie, G. (2003). Pragmatic aspects of representational gestures: Do speakers use them to clarify verbal ambiguity for the listener? Gesture, 3, 127-154.
  • Holler, J., & Kendrick, K. H. (2015). Unaddressed participants’ gaze in multi-person interaction: Optimizing recipiency. Frontiers in Psychology, 6: 98. doi:10.3389/fpsyg.2015.00098.

    Abstract

    One of the most intriguing aspects of human communication is its turn-taking system. It requires the ability to process on-going turns at talk while planning the next, and to launch this next turn without considerable overlap or delay. Recent research has investigated the eye movements of observers of dialogues to gain insight into how we process turns at talk. More specifically, this research has focused on the extent to which we are able to anticipate the end of current and the beginning of next turns. At the same time, there has been a call for shifting experimental paradigms exploring social-cognitive processes away from passive observation towards online processing. Here, we present research that responds to this call by situating state-of-the-art technology for tracking interlocutors’ eye movements within spontaneous, face-to-face conversation. Each conversation involved three native speakers of English. The analysis focused on question-response sequences involving just two of those participants, thus rendering the third momentarily unaddressed. Temporal analyses of the unaddressed participants’ gaze shifts from current to next speaker revealed that unaddressed participants are able to anticipate next turns, and moreover, that they often shift their gaze towards the next speaker before the current turn ends. However, an analysis of the complex structure of turns at talk revealed that the planning of these gaze shifts virtually coincides with the points at which the turns first become recog-nizable as possibly complete. We argue that the timing of these eye movements is governed by an organizational principle whereby unaddressed participants shift their gaze at a point that appears interactionally most optimal: It provides unaddressed participants with access to much of the visual, bodily behavior that accompanies both the current speaker’s and the next speaker’s turn, and it allows them to display recipiency with regard to both speakers’ turns.
  • Hömke, P., Holler, J., & Levinson, S. C. (2018). Eye blinks are perceived as communicative signals in human face-to-face interaction. PLoS One, 13(12): e0208030. doi:10.1371/journal.pone.0208030.

    Abstract

    In face-to-face communication, recurring intervals of mutual gaze allow listeners to provide speakers with visual feedback (e.g. nodding). Here, we investigate the potential feedback function of one of the subtlest of human movements—eye blinking. While blinking tends to be subliminal, the significance of mutual gaze in human interaction raises the question whether the interruption of mutual gaze through blinking may also be communicative. To answer this question, we developed a novel, virtual reality-based experimental paradigm, which enabled us to selectively manipulate blinking in a virtual listener, creating small differences in blink duration resulting in ‘short’ (208 ms) and ‘long’ (607 ms) blinks. We found that speakers unconsciously took into account the subtle differences in listeners’ blink duration, producing substantially shorter answers in response to long listener blinks. Our findings suggest that, in addition to physiological, perceptual and cognitive functions, listener blinks are also perceived as communicative signals, directly influencing speakers’ communicative behavior in face-to-face communication. More generally, these findings may be interpreted as shedding new light on the evolutionary origins of mental-state signaling, which is a crucial ingredient for achieving mutual understanding in everyday social interaction.

    Additional information

    Supporting information
  • Horemans, I., & Schiller, N. O. (2004). Form-priming effects in nonword naming. Brain and Language, 90(1-3), 465-469. doi:10.1016/S0093-934X(03)00457-7.

    Abstract

    Form-priming effects from sublexical (syllabic or segmental) primes in masked priming can be accounted for in two ways. One is the sublexical pre-activation view according to which segments are pre-activated by the prime, and at the time the form-related target is to be produced, retrieval/assembly of those pre-activated segments is faster compared to an unrelated situation. However, it has also been argued that form-priming effects from sublexical primes might be due to lexical pre-activation. When the sublexical prime is presented, it activates all form-related words (i.e., cohorts) in the lexicon, necessarily including the form-related target, which—as a consequence—is produced faster than in the unrelated case. Note, however, that this lexical pre-activation account makes previous pre-lexical activation of segments necessary. This study reports a nonword naming experiment to investigate whether or not sublexical pre-activation is involved in masked form priming with sublexical primes. The results demonstrated a priming effect suggesting a nonlexical effect. However, this does not exclude an additional lexical component in form priming.
  • Horschig, J. M., Smolders, R., Bonnefond, M., Schoffelen, J.-M., Van den Munckhof, P., Schuurman, P. R., Cools, R., Denys, D., & Jensen, O. (2015). Directed communication between nucleus accumbens and neocortex in humans is differentially supported by synchronization in the theta and alpha band. PLoS One, 10(9): e0138685. doi:10.1371/journal.pone.0138685.

    Abstract

    Here, we report evidence for oscillatory bi-directional interactions between the nucleus accumbens and the neocortex in humans. Six patients performed a demanding covert visual attention task while we simultaneously recorded brain activity from deep-brain electrodes implanted in the nucleus accumbens and the surface electroencephalogram (EEG). Both theta and alpha oscillations were strongly coherent with the frontal and parietal EEG during the task. Theta-band coherence increased during processing of the visual stimuli. Granger causality analysis revealed that the nucleus accumbens was communicating with the neocortex primarily in the theta-band, while the cortex was communicating the nucleus accumbens in the alpha-band. These data are consistent with a model, in which theta- and alpha-band oscillations serve dissociable roles: Prior to stimulus processing, the cortex might suppress ongoing processing in the nucleus accumbens by modulating alpha-band activity. Subsequently, upon stimulus presentation, theta oscillations might facilitate the active exchange of stimulus information from the nucleus accumbens to the cortex.
  • Howe, L. J., Lee, M. K., Sharp, G. C., Smith, G. D. W., St Pourcain, B., Shaffer, J. R., Ludwig, K. U., Mangold, E., Marazita, M. L., Feingold, E., Zhurov, A., Stergiakouli, E., Sandy, J., Richmond, S., Weinberg, S. M., Hemani, G., & Lewis, S. J. (2018). Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. PLoS Genetics, 14(8): e1007501. doi:10.1371/journal.pgen.1007501.

    Abstract

    There is increasing evidence that genetic risk variants for non-syndromic cleft lip/palate (nsCL/P) are also associated with normal-range variation in facial morphology. However, previous analyses are mostly limited to candidate SNPs and findings have not been consistently replicated. Here, we used polygenic risk scores (PRS) to test for genetic overlap between nsCL/P and seven biologically relevant facial phenotypes. Where evidence was found of genetic overlap, we used bidirectional Mendelian randomization (MR) to test the hypothesis that genetic liability to nsCL/P is causally related to implicated facial phenotypes. Across 5,804 individuals of European ancestry from two studies, we found strong evidence, using PRS, of genetic overlap between nsCL/P and philtrum width; a 1 S.D. increase in nsCL/P PRS was associated with a 0.10 mm decrease in philtrum width (95% C.I. 0.054, 0.146; P = 2x10-5). Follow-up MR analyses supported a causal relationship; genetic variants for nsCL/P homogeneously cause decreased philtrum width. In addition to the primary analysis, we also identified two novel risk loci for philtrum width at 5q22.2 and 7p15.2 in our Genome-wide Association Study (GWAS) of 6,136 individuals. Our results support a liability threshold model of inheritance for nsCL/P, related to abnormalities in development of the philtrum.

Share this page