Publications

Displaying 201 - 300 of 1310
  • Deriziotis, P., O'Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R. A., Gerdts, J., Shendure, J., Eichler, E. E., & Fisher, S. E. (2014). De novo TBR1 mutations in sporadic autism disrupt protein functions. Nature Communications, 5: 4954. doi:10.1038/ncomms5954.

    Abstract

    Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
  • Deriziotis, P., Graham, S. A., Estruch, S. B., & Fisher, S. E. (2014). Investigating protein-protein interactions in live cells using Bioluminescence Resonance Energy Transfer. Journal of visualized experiments, 87: e51438. doi:10.3791/51438.

    Abstract

    Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

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  • Desmet, T., De Baecke, C., Drieghe, D., Brysbaert, M., & Vonk, W. (2006). Relative clause attachment in Dutch: On-line comprehension corresponds to corpus frequencies when lexical variables are taken into account. Language and Cognitive Processes, 21(4), 453-485. doi:10.1080/01690960400023485.

    Abstract

    Desmet, Brysbaert, and De Baecke (2002a) showed that the production of relative clauses following two potential attachment hosts (e.g., ‘Someone shot the servant of the actress who was on the balcony’) was influenced by the animacy of the first host. These results were important because they refuted evidence from Dutch against experience-based accounts of syntactic ambiguity resolution, such as the tuning hypothesis. However, Desmet et al. did not provide direct evidence in favour of tuning, because their study focused on production and did not include reading experiments. In the present paper this line of research was extended. A corpus analysis and an eye-tracking experiment revealed that when taking into account lexical properties of the NP host sites (i.e., animacy and concreteness) the frequency pattern and the on-line comprehension of the relative clause attachment ambiguity do correspond. The implications for exposure-based accounts of sentence processing are discussed.
  • Devanna, P., & Vernes, S. C. (2014). A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137. Scientific Reports, 4: 3994. doi:10.1038/srep03994.

    Abstract

    Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes
  • Devanna, P., Middelbeek, J., & Vernes, S. C. (2014). FOXP2 drives neuronal differentiation by interacting with retinoic acid signaling pathways. Frontiers in Cellular Neuroscience, 8: 305. doi:10.3389/fncel.2014.00305.

    Abstract

    FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells
  • Devanna, P., Van de Vorst, M., Pfundt, R., Gilissen, C., & Vernes, S. C. (2018). Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression. Human Genetics, 137(9), 717-721. doi:10.1007/s00439-018-1925-9.

    Abstract

    Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

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    439_2018_1925_MOESM1_ESM.docx
  • Devanna, P., Chen, X. S., Ho, J., Gajewski, D., Smith, S. D., Gialluisi, A., Francks, C., Fisher, S. E., Newbury, D. F., & Vernes, S. C. (2018). Next-gen sequencing identifies non-coding variation disrupting miRNA binding sites in neurological disorders. Molecular Psychiatry, 23(5), 1375-1384. doi:10.1038/mp.2017.30.

    Abstract

    Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

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    mp201730x1.docx
  • Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P. and 3 moreDias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P., Hurles, M. E., DDD Study, Fisher, S. E., & Logan, D. W. (2016). BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. The American Journal of Human Genetics, 99(2), 253-274. doi:10.1016/j.ajhg.2016.05.030.

    Abstract

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

    Abstract

    People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan
  • Dima, A. L., & Dediu, D. (2016). Computation of Adherence to Medications and Visualization of Medication Histories in R with AdhereR: Towards Transparent and Reproducible Use of Electronic Healthcare Data. PLoS One, 12(4): e0174426. doi:10.1371/journal.pone.0174426.

    Abstract

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

    Abstract

    Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.
  • Dimroth, C., & Watorek, M. (2000). The scope of additive particles in basic learner languages. Studies in Second Language Acquisition, 22, 307-336. Retrieved from http://journals.cambridge.org/action/displayAbstract?aid=65981.

    Abstract

    Based on their longitudinal analysis of the acquisition of Dutch, English, French, and German, Klein and Perdue (1997) described a “basic learner variety” as valid cross-linguistically and comprising a limited number of shared syntactic patterns interacting with two types of constraints: (a) semantic—the NP whose referent has highest control comes first, and (b) pragmatic—the focus expression is in final position. These authors hypothesized that “the topic-focus structure also plays an important role in some other respects. . . . Thus, negation and (other) scope particles occur at the topic-focus boundary” (p. 318). This poses the problem of the interaction between the core organizational principles of the basic variety and optional items such as negative particles and scope particles, which semantically affect the whole or part of the utterance in which they occur. In this article, we test the validity of these authors' hypothesis for the acquisition of the additive scope particle also (and its translation equivalents). Our analysis is based on the European Science Foundation (ESF) data originally used to define the basic variety, but we also included some more advanced learner data from the same database. In doing so, we refer to the analyses of Dimroth and Klein (1996), which concern the interaction between scope particles and the part of the utterance they affect, and we make a distinction between maximal scope—that which is potentially affected by the particle—and the actual scope of a particle in relation to an utterance in a given discourse context

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  • Dingemanse, M., & Enfield, N. J. (2014). Ongeschreven regels van de taal. Psyche en Brein, 6, 6-11.

    Abstract

    Als je wereldwijd gesprekken beluistert, merk je dat de menselijke dialoog universele regels volgt. Die sturen en verrijken onze sociale interactie.
  • Dingemanse, M., Kendrick, K. H., & Enfield, N. J. (2016). A Coding Scheme for Other-Initiated Repair across Languages. Open Linguistics, 2, 35-46. doi:10.1515/opli-2016-0002.

    Abstract

    We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.
  • Dingemanse, M., Blythe, J., & Dirksmeyer, T. (2014). Formats for other-initiation of repair across languages: An exercise in pragmatic typology. Studies in Language, 38, 5-43. doi:10.1075/sl.38.1.01din.

    Abstract

    In conversation, people have to deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them
  • Dingemanse, M. (2014). Making new ideophones in Siwu: Creative depiction in conversation. Pragmatics and Society, 5(3), 384-405. doi:10.1075/ps.5.3.04din.

    Abstract

    Ideophones are found in many of the world’s languages. Though they are a major word class on a par with nouns and verbs, their origins are ill-understood, and the question of ideophone creation has been a source of controversy. This paper studies ideophone creation in naturally occurring speech. New, unconventionalised ideophones are identified using native speaker judgements, and are studied in context to understand the rules and regularities underlying their production and interpretation. People produce and interpret new ideophones with the help of the semiotic infrastructure that underlies the use of existing ideophones: foregrounding frames certain stretches of speech as depictive enactments of sensory imagery, and various types of iconicity link forms and meanings. As with any creative use of linguistic resources, context and common ground also play an important role in supporting rapid ‘good enough’ interpretations of new material. The making of new ideophones is a special case of a more general phenomenon of creative depiction: the art of presenting verbal material in such a way that the interlocutor recognises and interprets it as a depiction.
  • Dingemanse, M., & Enfield, N. J. (2014). Let's talk: Universal social rules underlie languages. Scientific American Mind, 25, 64-69. doi:10.1038/scientificamericanmind0914-64.

    Abstract

    Recent developments in the science of language signal the emergence of a new paradigm for language study: a social approach to the fundamental questions of what language is like, how much languages really have in common, and why only our species has it. The key to these developments is a new appreciation of the need to study everyday spoken language, with all its complications and ‘imperfections’, in a systematic way. The work reviewed in this article —on turn-taking, timing, and other-initiated repair in languages around the world— has important implications for our understanding of human sociality and sheds new light on the social shape of language. For the first time in the history of linguistics, we are no longer tied to what can be written down or thought up. Rather, we look at language as a biologist would: as it occurs in nature.
  • Dingemanse, M. (2018). Redrawing the margins of language: Lessons from research on ideophones. Glossa: a journal of general linguistics, 3(1): 4. doi:10.5334/gjgl.444.

    Abstract

    Ideophones (also known as expressives or mimetics, and including onomatopoeia) have been systematically studied in linguistics since the 1850s, when they were first described as a lexical class of vivid sensory words in West-African languages. This paper surveys the research history of ideophones, from its roots in African linguistics to its fruits in general linguistics and typology around the globe. It shows that despite a recurrent narrative of marginalisation, work on ideophones has made an impact in many areas of linguistics, from theories of phonological features to typologies of manner and motion, and from sound symbolism to sensory language. Due to their hybrid nature as gradient vocal gestures that grow roots in discrete linguistic systems, ideophones provide opportunities to reframe typological questions, reconsider the role of language ideology in linguistic scholarship, and rethink the margins of language. With ideophones increasingly being brought into the fold of the language sciences, this review synthesises past theoretical insights and empirical findings in order to enable future work to build on them.
  • Dingemanse, M., Schuerman, W. L., Reinisch, E., Tufvesson, S., & Mitterer, H. (2016). What sound symbolism can and cannot do: Testing the iconicity of ideophones from five languages. Language, 92(2), e117-e133. doi:10.1353/lan.2016.0034.

    Abstract

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

    Additional information

    https://muse.jhu.edu/article/619540
  • Dittmar, N., Reich, A., Skiba, R., Schumacher, M., & Terborg, H. (1990). Die Erlernung modaler Konzepte des Deutschen durch erwachsene polnische Migranten: Eine empirische Längsschnittstudie. Informationen Deutsch als Fremdsprache: Info DaF, 17(2), 125-172.
  • Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H. and 26 moreDjemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B. P., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Leu, C., Marini, C., McMahon, J. M., Mei, D., Moller, R. S., Muhle, H., Myers, C. T., Nava, C., Serratosa, J. M., Sisodiya, S. M., Stephani, U., Striano, P., van Kempen, M. J., Verbeek, N. E., Usluer, S., Zara, F., Palotie, A., Mefford, H. C., Scheffer, I. E., De Jonghe, P., Helbig, I., & Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. Molecular Genetics & Genomic Medicine, 4(4), 457-64. doi:10.1002/mgg3.217.

    Abstract

    Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.
  • Dolscheid, S., Hunnius, S., Casasanto, D., & Majid, A. (2014). Prelinguistic infants are sensitive to space-pitch associations found across cultures. Psychological Science, 25(6), 1256-1261. doi:10.1177/0956797614528521.

    Abstract

    People often talk about musical pitch using spatial metaphors. In English, for instance, pitches can be “high” or “low” (i.e., height-pitch association), whereas in other languages, pitches are described as “thin” or “thick” (i.e., thickness-pitch association). According to results from psychophysical studies, metaphors in language can shape people’s nonlinguistic space-pitch representations. But does language establish mappings between space and pitch in the first place, or does it only modify preexisting associations? To find out, we tested 4-month-old Dutch infants’ sensitivity to height-pitch and thickness-pitch mappings using a preferential-looking paradigm. The infants looked significantly longer at cross-modally congruent stimuli for both space-pitch mappings, which indicates that infants are sensitive to these associations before language acquisition. The early presence of space-pitch mappings means that these associations do not originate from language. Instead, language builds on preexisting mappings, changing them gradually via competitive associative learning. Space-pitch mappings that are language-specific in adults develop from mappings that may be universal in infants.
  • Doumas, L. A. A., & Martin, A. E. (2018). Learning structured representations from experience. Psychology of Learning and Motivation, 69, 165-203. doi:10.1016/bs.plm.2018.10.002.

    Abstract

    How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require structured representations of stimulus properties and the relations between them. An account of how we might acquire such representations has central importance for theories of human cognition. We describe how a system can learn structured relational representations from initially unstructured inputs using comparison, sensitivity to time, and a modified Hebbian learning algorithm. We summarize how the model DORA (Discovery of Relations by Analogy) instantiates this approach, which we call predicate learning, as well as how the model captures several phenomena from cognitive development, relational reasoning, and language processing in the human brain. Predicate learning offers a link between models based on formal languages and models which learn from experience and provides an existence proof for how structured representations might be learned in the first place.
  • Drijvers, L., & Trujillo, J. P. (2018). Commentary: Transcranial magnetic stimulation over left inferior frontal and posterior temporal cortex disrupts gesture-speech integration. Frontiers in Human Neuroscience, 12: 256. doi:10.3389/fnhum.2018.00256.

    Abstract

    A commentary on
    Transcranial Magnetic Stimulation over Left Inferior Frontal and Posterior Temporal Cortex Disrupts Gesture-Speech Integration

    by Zhao, W., Riggs, K., Schindler, I., and Holle, H. (2018). J. Neurosci. 10, 1748–1717. doi: 10.1523/JNEUROSCI.1748-17.2017
  • Drijvers, L., Ozyurek, A., & Jensen, O. (2018). Alpha and beta oscillations index semantic congruency between speech and gestures in clear and degraded speech. Journal of Cognitive Neuroscience, 30(8), 1086-1097. doi:10.1162/jocn_a_01301.

    Abstract

    Previous work revealed that visual semantic information conveyed by gestures can enhance degraded speech comprehension, but the mechanisms underlying these integration processes under adverse listening conditions remain poorly understood. We used MEG to investigate how oscillatory dynamics support speech–gesture integration when integration load is manipulated by auditory (e.g., speech degradation) and visual semantic (e.g., gesture congruency) factors. Participants were presented with videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching (mixing gesture + “mixing”) or mismatching (drinking gesture + “walking”) gesture. In clear speech, alpha/beta power was more suppressed in the left inferior frontal gyrus and motor and visual cortices when integration load increased in response to mismatching versus matching gestures. In degraded speech, beta power was less suppressed over posterior STS and medial temporal lobe for mismatching compared with matching gestures, showing that integration load was lowest when speech was degraded and mismatching gestures could not be integrated and disambiguate the degraded signal. Our results thus provide novel insights on how low-frequency oscillatory modulations in different parts of the cortex support the semantic audiovisual integration of gestures in clear and degraded speech: When speech is clear, the left inferior frontal gyrus and motor and visual cortices engage because higher-level semantic information increases semantic integration load. When speech is degraded, posterior STS/middle temporal gyrus and medial temporal lobe are less engaged because integration load is lowest when visual semantic information does not aid lexical retrieval and speech and gestures cannot be integrated.
  • Drijvers, L., Mulder, K., & Ernestus, M. (2016). Alpha and gamma band oscillations index differential processing of acoustically reduced and full forms. Brain and Language, 153-154, 27-37. doi:10.1016/j.bandl.2016.01.003.

    Abstract

    Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.
  • Drijvers, L., Ozyurek, A., & Jensen, O. (2018). Hearing and seeing meaning in noise: Alpha, beta and gamma oscillations predict gestural enhancement of degraded speech comprehension. Human Brain Mapping, 39(5), 2075-2087. doi:10.1002/hbm.23987.

    Abstract

    During face-to-face communication, listeners integrate speech with gestures. The semantic information conveyed by iconic gestures (e.g., a drinking gesture) can aid speech comprehension in adverse listening conditions. In this magnetoencephalography (MEG) study, we investigated the spatiotemporal neural oscillatory activity associated with gestural enhancement of degraded speech comprehension. Participants watched videos of an actress uttering clear or degraded speech, accompanied by a gesture or not and completed a cued-recall task after watching every video. When gestures semantically disambiguated degraded speech comprehension, an alpha and beta power suppression and a gamma power increase revealed engagement and active processing in the hand-area of the motor cortex, the extended language network (LIFG/pSTS/STG/MTG), medial temporal lobe, and occipital regions. These observed low- and high-frequency oscillatory modulations in these areas support general unification, integration and lexical access processes during online language comprehension, and simulation of and increased visual attention to manual gestures over time. All individual oscillatory power modulations associated with gestural enhancement of degraded speech comprehension predicted a listener's correct disambiguation of the degraded verb after watching the videos. Our results thus go beyond the previously proposed role of oscillatory dynamics in unimodal degraded speech comprehension and provide first evidence for the role of low- and high-frequency oscillations in predicting the integration of auditory and visual information at a semantic level.

    Additional information

    hbm23987-sup-0001-suppinfo01.docx
  • Drijvers, L., & Ozyurek, A. (2018). Native language status of the listener modulates the neural integration of speech and iconic gestures in clear and adverse listening conditions. Brain and Language, 177-178, 7-17. doi:10.1016/j.bandl.2018.01.003.

    Abstract

    Native listeners neurally integrate iconic gestures with speech, which can enhance degraded speech comprehension. However, it is unknown how non-native listeners neurally integrate speech and gestures, as they might process visual semantic context differently than natives. We recorded EEG while native and highly-proficient non-native listeners watched videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching ('to drive'+driving gesture) or mismatching gesture ('to drink'+mixing gesture). Degraded speech elicited an enhanced N400 amplitude compared to clear speech in both groups, revealing an increase in neural resources needed to resolve the spoken input. A larger N400 effect was found in clear speech for non-natives compared to natives, but in degraded speech only for natives. Non-native listeners might thus process gesture more strongly than natives when speech is clear, but need more auditory cues to facilitate access to gestural semantic information when speech is degraded.
  • Dronkers, N. F., Wilkins, D. P., Van Valin Jr., R. D., Redfern, B. B., & Jaeger, J. J. (2004). Lesion analysis of the brain areas involved in language comprehension. Cognition, 92, 145-177. doi:10.1016/j.cognition.2003.11.002.

    Abstract

    The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.
  • Drozd, K. F. (1995). Child English pre-sentential negation as metalinguistic exclamatory sentence negation. Journal of Child Language, 22(3), 583-610. doi:10.1017/S030500090000996X.

    Abstract

    This paper presents a study of the spontaneous pre-sentential negations
    of ten English-speaking children between the ages of 1; 6 and 3; 4 which
    supports the hypothesis that child English nonanaphoric pre-sentential
    negation is a form of metalinguistic exclamatory sentence negation. A
    detailed discourse analysis reveals that children's pre-sentential negatives
    like No Nathaniel a king (i) are characteristically echoic, and (it)
    typically express objection and rectification, two characteristic functions
    of exclamatory negation in adult discourse, e.g. Don't say 'Nathaniel's a
    king'! A comparison of children's pre-sentential negations with their
    internal predicate negations using not and don't reveals that the two
    negative constructions are formally and functionally distinct. I argue
    that children's nonanaphoric pre-sentential negatives constitute an
    independent, well-formed class of discourse negation. They are not
    'primitive' constructions derived from the miscategorization of emphatic
    no in adult speech or children's 'inventions'. Nor are they an
    early derivational variant of internal sentence negation. Rather, these
    negatives reflect young children's competence in using grammatical
    negative constructions appropriately in discourse.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2016). Lexically-guided perceptual learning in non-native listening. Bilingualism: Language and Cognition, 19(5), 914-920. doi:10.1017/S136672891600002X.

    Abstract

    There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.
  • Drude, S. (2006). Documentação lingüística: O formato de anotação de textos. Cadernos de Estudos Lingüísticos, 35, 27-51.

    Abstract

    This paper presents the methods of language documentation as applied in the Awetí Language Documentation Project, one of the projects in the Documentation of Endangered Languages Programme (DOBES). It describes the steps of how a large digital corpus of annotated multi-media data is built. Special attention is devoted to the format of annotation of linguistic data. The Advanced Glossing format is presented and justified
  • Drude, S., Broeder, D., & Trilsbeek, P. (2014). The Language Archive and its solutions for sustainable endangered languages corpora. Book 2.0, 4, 5-20. doi:10.1386/btwo.4.1-2.5_1.

    Abstract

    Since the late 1990s, the technical group at the Max-Planck-Institute for Psycholinguistics has worked on solutions for important challenges in building sustainable data archives, in particular, how to guarantee long-time-availability of digital research data for future research. The support for the well-known DOBES (Documentation of Endangered Languages) programme has greatly inspired and advanced this work, and lead to the ongoing development of a whole suite of tools for annotating, cataloguing and archiving multi-media data. At the core of the LAT (Language Archiving Technology) tools is the IMDI metadata schema, now being integrated into a larger network of digital resources in the European CLARIN project. The multi-media annotator ELAN (with its web-based cousin ANNEX) is now well known not only among documentary linguists. We aim at presenting an overview of the solutions, both achieved and in development, for creating and exploiting sustainable digital data, in particular in the area of documenting languages and cultures, and their interfaces with related other developments
  • Duñabeitia, J. A., Crepaldi, D., Meyer, A. S., New, B., Pliatsikas, C., Smolka, E., & Brysbaert, M. (2018). MultiPic: A standardized set of 750 drawings with norms for six European languages. Quarterly Journal of Experimental Psychology, 71(4), 808-816. doi:10.1080/17470218.2017.1310261.

    Abstract

    Numerous studies in psychology, cognitive neuroscience and psycholinguistics have used pictures of objects as stimulus materials. Currently, authors engaged in cross-linguistic work or wishing to run parallel studies at multiple sites where different languages are spoken must rely on rather small sets of black-and-white or colored line drawings. These sets are increasingly experienced as being too limited. Therefore, we constructed a new set of 750 colored pictures of concrete concepts. This set, MultiPic, constitutes a new valuable tool for cognitive scientists investigating language, visual perception, memory and/or attention in monolingual or multilingual populations. Importantly, the MultiPic databank has been normed in six different European languages (British English, Spanish, French, Dutch, Italian and German). All stimuli and norms are freely available at http://www.bcbl.eu/databases/multipic

    Additional information

    http://www.bcbl.eu/databases/multipic
  • Dunn, M. (2014). [Review of the book Evolutionary Linguistics by April McMahon and Robert McMahon]. American Anthropologist, 116(3), 690-691.
  • Dunn, M. (2006). [Review of the book Comparative Chukotko-Kamchatkan dictionary by Michael Fortescue]. Anthropological Linguistics, 48(3), 296-298.
  • Dunn, M. (2000). Planning for failure: The niche of standard Chukchi. Current Issues in Language Planning, 1, 389-399. doi:10.1080/14664200008668013.

    Abstract

    This paper examines the effects of language standardization and orthography design on the Chukchi linguistic ecology. The process of standardisation has not taken into consideration the gender-based sociolects of colloquial Chukchi and is based on a grammaticaldescriptionwhich does not reflectactual Chukchi use; as a result standard Chukchi has not gained a place in the Chukchi language ecology. The Cyrillic orthography developed for Chukchi is also problematic as it is based on features of Russian phonology, rather than on Chukchi itself: this has meant that a knowledge of written Chukchi is dependent on a knowledge of the principles of Russian orthography. The aspects of language planning have had a large impact on the pre-existing Chukchi language ecology which has contributed to the obsolescence of the colloquial language.
  • Eaves, L. J., St Pourcain, B., Smith, G. D., York, T. P., & Evans, D. M. (2014). Resolving the Effects of Maternal and Offspring Genotype on Dyadic Outcomes in Genome Wide Complex Trait Analysis (“M-GCTA”). Behavior Genetics, 44(5), 445-455. doi:10.1007/s10519-014-9666-6.

    Abstract

    Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.
  • Edlinger, G., Bastiaansen, M. C. M., Brunia, C., Neuper, C., & Pfurtscheller, G. (1999). Cortical oscillatory activity assessed by combined EEG and MEG recordings and high resolution ERD methods. Biomedizinische Technik, 44(2), 131-134.
  • Edmunds, R., L'Hours, H., Rickards, L., Trilsbeek, P., Vardigan, M., & Mokrane, M. (2016). Core trustworthy data repositories requirements. Zenodo, 168411. doi:10.5281/zenodo.168411.

    Abstract

    The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.
  • Eekhof, L. S., Eerland, A., & Willems, R. M. (2018). Readers’ insensitivity to tense revealed: No differences in mental simulation during reading of present and past tense stories. Collabra: Psychology, 4(1): 16. doi:10.1525/collabra.121.

    Abstract

    While the importance of mental simulation during literary reading has long been recognized, we know little about the factors that determine when, what, and how much readers mentally simulate. Here we investigate the influence of a specific text characteristic, namely verb tense (present vs. past), on mental simulation during literary reading. Verbs usually denote the actions and events that take place in narratives and hence it is hypothesized that verb tense will influence the amount of mental simulation elicited in readers. Although the present tense is traditionally considered to be more “vivid”, this study is one of the first to experimentally assess this claim. We recorded eye-movements while subjects read stories in the past or present tense and collected data regarding self-reported levels of mental simulation, transportation and appreciation. We found no influence of tense on any of the offline measures. The eye-tracking data showed a slightly more complex pattern. Although we did not find a main effect of sensorimotor simulation content on reading times, we were able to link the degree to which subjects slowed down when reading simulation eliciting content to offline measures of attention and transportation, but this effect did not interact with the tense of the story. Unexpectedly, we found a main effect of tense on reading times per word, with past tense stories eliciting longer first fixation durations and gaze durations. However, we were unable to link this effect to any of the offline measures. In sum, this study suggests that tense does not play a substantial role in the process of mental simulation elicited by literary stories.

    Additional information

    Data Accessibility
  • Eichert, N., Peeters, D., & Hagoort, P. (2018). Language-driven anticipatory eye movements in virtual reality. Behavior Research Methods, 50(3), 1102-1115. doi:10.3758/s13428-017-0929-z.

    Abstract

    Predictive language processing is often studied by measuring eye movements as participants look at objects on a computer screen while they listen to spoken sentences. The use of this variant of the visual world paradigm has shown that information encountered by a listener at a spoken verb can give rise to anticipatory eye movements to a target object, which is taken to indicate that people predict upcoming words. The ecological validity of such findings remains questionable, however, because these computer experiments used two-dimensional (2D) stimuli that are mere abstractions of real world objects. Here we present a visual world paradigm study in a three-dimensional (3D) immersive virtual reality environment. Despite significant changes in the stimulus material and the different mode of stimulus presentation, language-mediated anticipatory eye movements were observed. These findings thus indicate prediction of upcoming words in language comprehension in a more naturalistic setting where natural depth cues are preserved. Moreover, the results confirm the feasibility of using eye-tracking in rich and multimodal 3D virtual environments.

    Additional information

    13428_2017_929_MOESM1_ESM.docx
  • Eising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K. and 9 moreEising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K., Palotie, A., Chasman, D. I., Ferrari, M. D., Terwindt, G. M., de Vries, B., Nyholt, D. R., Lelieveldt, B. P., van den Maagdenberg, A. M., & Reinders, M. J. (2016). Gene co‑expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS‑based study using the Allen Human Brain Atlas. Human Genetics, 135(4), 425-439. doi:10.1007/s00439-016-1638-x.

    Abstract

    Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.
  • Eising, E., De Leeuw, C., Min, J. L., Anttila, V., Verheijen, M. H. G., Terwindt, G. M., Dichgans, M., Freilinger, T., Kubisch, C., Ferrari, M. D., Smit, A. B., De Vries, B., Palotie, A., Van Den Maagdenberg, A. M. J. M., & Posthuma, D. (2016). Involvement of astrocyte and oligodendrocyte gene sets in migraine. Cephalalgia, 36(7), 640-647. doi:10.1177/0333102415618614.

    Abstract

    Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.
  • Eisner, F., & McQueen, J. M. (2006). Perceptual learning in speech: Stability over time (L). Journal of the Acoustical Society of America, 119(4), 1950-1953. doi:10.1121/1.2178721.

    Abstract

    Perceptual representations of phonemes are flexible and adapt rapidly to accommodate idiosyncratic articulation in the speech of a particular talker. This letter addresses whether such adjustments remain stable over time and under exposure to other talkers. During exposure to a story, listeners learned to interpret an ambiguous sound as [f] or [s]. Perceptual adjustments measured after 12 h were as robust as those measured immediately after learning. Equivalent effects were found when listeners heard speech from other talkers in the 12 h interval, and when they had the opportunity to consolidate learning during sleep.
  • Enfield, N. J. (2004). On linear segmentation and combinatorics in co-speech gesture: A symmetry-dominance construction in Lao fish trap descriptions. Semiotica, 149(1/4), 57-123. doi:10.1515/semi.2004.038.
  • Enfield, N. J., Majid, A., & Van Staden, M. (2006). Cross-linguistic categorisation of the body: Introduction. Language Sciences, 28(2-3), 137-147. doi:10.1016/j.langsci.2005.11.001.

    Abstract

    The domain of the human body is an ideal focus for semantic typology, since the body is a physical universal and all languages have terms referring to its parts. Previous research on body part terms has depended on secondary sources (e.g. dictionaries), and has lacked sufficient detail or clarity for a thorough understanding of these terms’ semantics. The present special issue is the outcome of a collaborative project aimed at improving approaches to investigating the semantics of body part terms, by developing materials to elicit information that provides for cross-linguistic comparison. The articles in this volume are original fieldwork-based descriptions of terminology for parts of the body in ten languages. Also included are an elicitation guide and experimental protocol used in gathering data. The contributions provide inventories of body part terms in each language, with analysis of both intensional and extensional aspects of meaning, differences in morphological complexity, semantic relations among terms, and discussion of partonomic structure within the domain.
  • Enfield, N. J. (2006). Elicitation guide on parts of the body. Language Sciences, 28(2-3), 148-157. doi:10.1016/j.langsci.2005.11.003.

    Abstract

    This document is intended for use as an elicitation guide for the field linguist consulting with native speakers in collecting terms for parts of the body, and in the exploration of their semantics.
  • Enfield, N. J. (2006). [Review of the book A grammar of Semelai by Nicole Kruspe]. Linguistic Typology, 10(3), 452-455. doi:10.1515/LINGTY.2006.014.
  • Enfield, N. J. (2006). Languages as historical documents: The endangered archive in Laos. South East Asia Research, 14(3), 471-488.

    Abstract

    Abstract: This paper reviews current discussion of the issue of just what is lost when a language dies. Special reference is made to the current situation in Laos, a country renowned for its considerable cultural and linguistic diversity. It focuses on the historical, anthropological and ecological knowledge that a language can encode, and the social and cultural consequences of the loss of such traditional knowledge when a language is no longer passed on. Finally, the article points out the paucity of studies and obstacles to field research on minority languages in Laos, which seriously hamper their documentation.
  • Enfield, N. J. (2006). Lao body part terms. Language Sciences, 28(2-3), 181-200. doi:10.1016/j.langsci.2005.11.011.

    Abstract

    This article presents a description of nominal expressions for parts of the human body conventionalised in Lao, a Southwestern Tai language spoken in Laos, Northeast Thailand, and Northeast Cambodia. An inventory of around 170 Lao expressions is listed, with commentary where some notability is determined, usually based on explicit comparison to the metalanguage, English. Notes on aspects of the grammatical and semantic structure of the set of body part terms are provided, including a discussion of semantic relations pertaining among members of the set of body part terms. I conclude that the semantic relations which pertain between terms for different parts of the body not only include part/whole relations, but also relations of location, connectedness, and general association. Calling the whole system a ‘partonomy’ attributes greater centrality to the part/whole relation than is warranted.
  • Enfield, N. J. (2004). Nominal classification in Lao: A sketch. Sprachtypologie und Universalienforschung, 57(2/3), 117-143.
  • Enfield, N. J. (1999). On the indispensability of semantics: Defining the ‘vacuous’. Rask: internationalt tidsskrift for sprog og kommunikation, 9/10, 285-304.
  • Enfield, N. J. (2000). The theory of cultural logic: How individuals combine social intelligence with semiotics to create and maintain cultural meaning. Cultural Dynamics, 12(1), 35-64. doi:10.1177/092137400001200102.

    Abstract

    The social world is an ecological complex in which cultural meanings and knowledges (linguistic and non-linguistic) personally embodied by individuals are intercalibrated via common attention to commonly accessible semiotic structures. This interpersonal ecology bridges realms which are the subject matter of both anthropology and linguistics, allowing the public maintenance of a system of assumptions and counter-assumptions among individuals as to what is mutually known (about), in general and/or in any particular context. The mutual assumption of particular cultural ideas provides human groups with common premises for predictably convergent inferential processes. This process of people collectively using effectively identical assumptions in interpreting each other's actions—i.e. hypothesizing as to each other's motivations and intentions—may be termed cultural logic. This logic relies on the establishment of stereotypes and other kinds of precedents, catalogued in individuals’ personal libraries, as models and scenarios which may serve as reference in inferring and attributing motivations behind people's actions, and behind other mysterious phenomena. This process of establishing conceptual convention depends directly on semiotics, since groups of individuals rely on external signs as material for common focus and, thereby, agreement. Social intelligence binds signs in the world (e.g. speech sounds impressing upon eardrums), with individually embodied representations (e.g. word meanings and contextual schemas). The innate tendency for people to model the intentions of others provides an ultimately biological account for the logic behind culture. Ethnographic examples are drawn from Laos and Australia.
  • Erard, M. (2016). Solving Australia's language puzzle. Science, 353(6306), 1357-1359. doi:10.1126/science.353.6306.1357.
  • Ergin, R., Meir, I., Ilkbasaran, D., Padden, C., & Jackendoff, R. (2018). The Development of Argument Structure in Central Taurus Sign Language. Sign Language & Linguistics, 18(4), 612-639. doi:10.1353/sls.2018.0018.

    Abstract

    One of the fundamental issues for a language is its capacity to express
    argument structure unambiguously. This study presents evidence
    for the emergence and the incremental development of these
    basic mechanisms in a newly developing language, Central Taurus
    Sign Language. Our analyses identify universal patterns in both the
    emergence and development of these mechanisms and in languagespecific
    trajectories.
  • Ernestus, M. (2006). Statistically gradient generalizations for contrastive phonological features. The Linguistic Review, 23(3), 217-233. doi:10.1515/TLR.2006.008.

    Abstract

    In mainstream phonology, contrastive properties, like stem-final voicing, are simply listed in the lexicon. This article reviews experimental evidence that such contrastive properties may be predictable to some degree and that the relevant statistically gradient generalizations form an inherent part of the grammar. The evidence comes from the underlying voice specification of stem-final obstruents in Dutch. Contrary to received wisdom, this voice specification is partly predictable from the obstruent’s manner and place of articulation and from the phonological properties of the preceding segments. The degree of predictability, which depends on the exact contents of the lexicon, directs speakers’ guesses of underlying voice specifications. Moreover, existing words that disobey the generalizations are disadvantaged by being recognized and produced more slowly and less accurately, also under natural conditions.We discuss how these observations can be accounted for in two types of different approaches to grammar, Stochastic Optimality Theory and exemplar-based modeling.
  • Ernestus, M. (2014). Acoustic reduction and the roles of abstractions and exemplars in speech processing. Lingua, 142, 27-41. doi:10.1016/j.lingua.2012.12.006.

    Abstract

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

    Abstract

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

    Abstract

    This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.
  • Ernestus, M., Lahey, M., Verhees, F., & Baayen, R. H. (2006). Lexical frequency and voice assimilation. Journal of the Acoustical Society of America, 120(2), 1040-1051. doi:10.1121/1.2211548.

    Abstract

    Acoustic duration and degree of vowel reduction are known to correlate with a word’s frequency of occurrence. The present study broadens the research on the role of frequency in speech production to voice assimilation. The test case was regressive voice assimilation in Dutch. Clusters from a corpus of read speech were more often perceived as unassimilated in lower-frequency words and as either completely voiced regressive assimilation or, unexpectedly, as completely voiceless progressive assimilation in higher-frequency words. Frequency did not predict the voice classifications over and above important acoustic cues to voicing, suggesting that the frequency effects on the classifications were carried exclusively by the acoustic signal. The duration of the cluster and the period of glottal vibration during the cluster decreased while the duration of the release noises increased with frequency. This indicates that speakers reduce articulatory effort for higher-frequency words, with some acoustic cues signaling more voicing and others less voicing. A higher frequency leads not only to acoustic reduction but also to more assimilation.
  • Ernestus, M., & Baayen, R. H. (2004). Kuchde, tobte, en turfte: Lekkage in 't kofschip. Onze Taal, 73(12), 360-361.
  • Ernestus, M., Giezenaar, G., & Dikmans, M. (2016). Ikfstajezotuuknie: Half uitgesproken woorden in alledaagse gesprekken. Les, 199, 7-9.

    Abstract

    Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.
  • Estruch, S. B., Graham, S. A., Quevedo, M., Vino, A., Dekkers, D. H. W., Deriziotis, P., Sollis, E., Demmers, J., Poot, R. A., & Fisher, S. E. (2018). Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders. Human Molecular Genetics, 27(7), 1212-1227. doi:10.1093/hmg/ddy035.

    Abstract

    FOXP transcription factors play important roles in neurodevelopment, but little is known about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate gene expression by forming homo- and hetero-dimers with each other. Physical associations with other transcription factors might also modulate the functions of FOXP proteins. However, few FOXP-interacting transcription factors have been identified so far. Therefore, we sought to discover additional transcription factors that interact with the brain-expressed FOXP proteins, FOXP1, FOXP2 and FOXP4, through affinity-purifications of protein complexes followed by mass spectrometry. We identified seven novel FOXP-interacting transcription factors (NR2F1, NR2F2, SATB1, SATB2, SOX5, YY1 and ZMYM2), five of which have well-established roles in cortical development. Accordingly, we found that these transcription factors are co-expressed with FoxP2 in the deep layers of the cerebral cortex and also in the Purkinje cells of the cerebellum, suggesting that they may cooperate with the FoxPs to regulate neural gene expression in vivo. Moreover, we demonstrated that etiological mutations of FOXP1 and FOXP2, known to cause neurodevelopmental disorders, severely disrupted the interactions with FOXP-interacting transcription factors. Additionally, we pinpointed specific regions within FOXP2 sequence involved in mediating these interactions. Thus, by expanding the FOXP interactome we have uncovered part of a broader neural transcription factor network involved in cortical development, providing novel molecular insights into the transcriptional architecture underlying brain development and neurodevelopmental disorders.
  • Estruch, S. B., Graham, S. A., Chinnappa, S. M., Deriziotis, P., & Fisher, S. E. (2016). Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. Journal of Neurodevelopmental Disorders, 8: 44. doi:10.1186/s11689-016-9177-2.
  • Estruch, S. B., Graham, S. A., Deriziotis, P., & Fisher, S. E. (2016). The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers. Scientific Reports, 6: 20911. doi:10.1038/srep20911.

    Abstract

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

    Additional information

    srep20911-s1.pdf
  • Ho, Y. Y. W., Evans, D. M., Montgomery, G. W., Henders, A. K., Kemp, J. P., Timpson, N. J., St Pourcain, B., Heath, A. C., Madden, P. A. F., Loesch, D. Z., McNevin, D., Daniel, R., Davey-Smith, G., Martin, N. G., & Medland, S. E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136(4), 859-862. doi:10.1016/j.jid.2015.10.062.
  • Evans, N., Bergqvist, H., & San Roque, L. (2018). The grammar of engagement I: Framework and initial exemplification. Language and Cognition, 10, 110-140. doi:10.1017/langcog.2017.21.

    Abstract

    Human language offers rich ways to track, compare, and engage the attentional and epistemic states of interlocutors. While this task is central to everyday communication, our knowledge of the cross-linguistic grammatical means that target such intersubjective coordination has remained basic. In two serialised papers, we introduce the term ‘engagement’ to refer to grammaticalised means for encoding the relative mental directedness of speaker and addressee towards an entity or state of affairs, and describe examples of engagement systems from around the world. Engagement systems express the speaker’s assumptions about the degree to which their attention or knowledge is shared (or not shared) by the addressee. Engagement categories can operate at the level of entities in the here-and-now (deixis), in the unfolding discourse (definiteness vs indefiniteness), entire event-depicting propositions (through markers with clausal scope), and even metapropositions (potentially scoping over evidential values). In this first paper, we introduce engagement and situate it with respect to existing work on intersubjectivity in language. We then explore the key role of deixis in coordinating attention and expressing engagement, moving through increasingly intercognitive deictic systems from those that focus on the the location of the speaker, to those that encode the attentional state of the addressee.
  • Evans, N., Bergqvist, H., & San Roque, L. (2018). The grammar of engagement II: Typology and diachrony. Language and Cognition, 10(1), 141-170. doi:10.1017/langcog.2017.22.

    Abstract

    Engagement systems encode the relative accessibility of an entity or state of affairs to the speaker and addressee, and are thus underpinned by our social cognitive capacities. In our first foray into engagement (Part 1), we focused on specialised semantic contrasts as found in entity-level deictic systems, tailored to the primal scenario for establishing joint attention. This second paper broadens out to an exploration of engagement at the level of events and even metapropositions, and comments on how such systems may evolve. The languages Andoke and Kogi demonstrate what a canonical system of engagement with clausal scope looks like, symmetrically assigning ‘knowing’ and ‘unknowing’ values to speaker and addressee. Engagement is also found cross-cutting other epistemic categories such as evidentiality, for example where a complex assessment of relative speaker and addressee awareness concerns the source of information rather than the proposition itself. Data from the language Abui reveal that one way in which engagement systems can develop is by upscoping demonstratives, which normally denote entities, to apply at the level of events. We conclude by stressing the need for studies that focus on what difference it makes, in terms of communicative behaviour, for intersubjective coordination to be managed by engagement systems as opposed to other, non-grammaticalised means.
  • Evans, S., McGettigan, C., Agnew, Z., Rosen, S., Cesar, L., Boebinger, D., Ostarek, M., Chen, S. H., Richards, A., Meekins, S., & Scott, S. K. (2014). The neural basis of informational and energetic masking effects in the perception and production of speech [abstract]. The Journal of the Acoustical Society of America, 136(4), 2243. doi:10.1121/1.4900096.

    Abstract

    When we have spoken conversations, it is usually in the context of competing sounds within our environment. Speech can be masked by many different kinds of sounds, for example, machinery noise and the speech of others, and these different sounds place differing demands on cognitive resources. In this talk, I will present data from a series of functional magnetic resonance imaging (fMRI) studies in which the informational properties of background sounds have been manipulated to make them more or less similar to speech. I will demonstrate the neural effects associated with speaking over and listening to these sounds, and demonstrate how in perception these effects are modulated by the age of the listener. The results will be interpreted within a framework of auditory processing developed from primate neurophysiology and human functional imaging work (Rauschecker and Scott 2009).
  • Everaerd, D., Klumpers, F., Zwiers, M., Guadalupe, T., Franke, B., Van Oostrum, I., Schene, A., Fernandez, G., & Tendolkar, I. (2016). Childhood abuse and deprivation are associated with distinct sex-dependent differences in brain morphology. Neuropsychopharmacology, 41, 1716-1723. doi:10.1038/npp.2015.344.

    Abstract

    Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA
  • Everett, C., Blasi, D. E., & Roberts, S. G. (2016). Language evolution and climate: The case of desiccation and tone. Journal of Language Evolution, 1, 33-46. doi:10.1093/jole/lzv004.

    Abstract

    We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology
  • Everett, C., Blasi, D., & Roberts, S. G. (2016). Response: Climate and language: has the discourse shifted? Journal of Language Evolution, 1(1), 83-87. doi:10.1093/jole/lzv013.

    Abstract

    We begin by thanking the respondents for their thoughtful comments and insightful leads. The overall impression we are left with by this exchange is one of progress, even if no consensus remains about the particular hypothesis we raise. To date, there has been a failure to seriously engage with the possibility that humans might adapt their communication to ecological factors. In these exchanges, we see signs of serious engagement with that possibility. Most respondents expressed agreement with the notion that our central premise—that language is ecologically adaptive—requires further exploration and may in fact be operative. We are pleased to see this shift in discourse, and to witness a heightening appreciation of possible ecological constraints on language evolution. It is that shift in discourse that represents progress in our view. Our hope is that future work will continue to explore these issues, paying careful attention to the fact that the human larynx is clearly sensitive to characteristics of ambient air. More generally, we think this exchange is indicative of the growing realization that inquiries into language development must consider potential external factors (see Dediu 2015)...

    Additional information

    AppendixResponseToHammarstrom.pdf
  • Fairs, A., Bögels, S., & Meyer, A. S. (2018). Dual-tasking with simple linguistic tasks: Evidence for serial processing. Acta Psychologica, 191, 131-148. doi:10.1016/j.actpsy.2018.09.006.

    Abstract

    In contrast to the large amount of dual-task research investigating the coordination of a linguistic and a nonlinguistic
    task, little research has investigated how two linguistic tasks are coordinated. However, such research
    would greatly contribute to our understanding of how interlocutors combine speech planning and listening in
    conversation. In three dual-task experiments we studied how participants coordinated the processing of an
    auditory stimulus (S1), which was either a syllable or a tone, with selecting a name for a picture (S2). Two SOAs,
    of 0 ms and 1000 ms, were used. To vary the time required for lexical selection and to determine when lexical
    selection took place, the pictures were presented with categorically related or unrelated distractor words. In
    Experiment 1 participants responded overtly to both stimuli. In Experiments 2 and 3, S1 was not responded to
    overtly, but determined how to respond to S2, by naming the picture or reading the distractor aloud. Experiment
    1 yielded additive effects of SOA and distractor type on the picture naming latencies. The presence of semantic
    interference at both SOAs indicated that lexical selection occurred after response selection for S1. With respect to
    the coordination of S1 and S2 processing, Experiments 2 and 3 yielded inconclusive results. In all experiments,
    syllables interfered more with picture naming than tones. This is likely because the syllables activated phonological
    representations also implicated in picture naming. The theoretical and methodological implications of the
    findings are discussed.

    Additional information

    1-s2.0-S0001691817305589-mmc1.pdf
  • Fan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y. and 17 moreFan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y., Ding, X., Wojciechowski, R., Young, T. L., Parssinen, O., Oexle, K., Pfeiffer, N., Bailey-Wilson, J. E., Paterson, A. D., Klaver, C. C. W., Plomin, R., Hammond, C. J., Mackey, D. A., He, M. G., Saw, S. M., Williams, C., Guggenheim, J. A., & Cream, C. (2016). Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Scientific Reports, 6: 25853. doi:10.1038/srep25853.

    Abstract

    Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

    Additional information

    srep25853-s1.pdf
  • Fan, Q., Verhoeven, V. J., Wojciechowski, R., Barathi, V. A., Hysi, P. G., Guggenheim, J. A., Höhn, R., Vitart, V., Khawaja, A. P., Yamashiro, K., Hosseini, S. M., Lehtimäki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P., Venturini, C. and 83 moreFan, Q., Verhoeven, V. J., Wojciechowski, R., Barathi, V. A., Hysi, P. G., Guggenheim, J. A., Höhn, R., Vitart, V., Khawaja, A. P., Yamashiro, K., Hosseini, S. M., Lehtimäki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P., Venturini, C., Miyake, M., Hewitt, A. W., Guo, X., Mazur, J., Huffman, J. E., Williams, K. M., Polasek, O., Campbell, H., Rudan, I., Vatavuk, Z., Wilson, J. F., Joshi, P. K., McMahon, G., St Pourcain, B., Evans, D. M., Simpson, C. L., Schwantes-An, T.-H., Igo, R. P., Mirshahi, A., Cougnard-Gregoire, A., Bellenguez, C., Blettner, M., Raitakari, O., Kähönen, M., Seppälä, I., Zeller, T., Meitinger, T., Ried, J. S., Gieger, C., Portas, L., Van Leeuwen, E. M., Amin, N., Uitterlinden, A. G., Rivadeneira, F., Hofman, A., Vingerling, J. R., Wang, Y. X., Wang, X., Boh, E.-T.-H., Ikram, M. K., Sabanayagam, C., Gupta, P., Tan, V., Zhou, L., Ho, C. E., Lim, W., Beuerman, R. W., Siantar, R., Tai, E.-S., Vithana, E., Mihailov, E., Khor, C.-C., Hayward, C., Luben, R. N., Foster, P. J., Klein, B. E., Klein, R., Wong, H.-S., Mitchell, P., Metspalu, A., Aung, T., Young, T. L., He, M., Pärssinen, O., Van Duijn, C. M., Wang, J. J., Williams, C., Jonas, J. B., Teo, Y.-Y., Mackey, D. A., Oexle, K., Yoshimura, N., Paterson, A. D., Pfeiffer, N., Wong, T.-Y., Baird, P. N., Stambolian, D., Bailey-Wilson, J. E., Cheng, C.-Y., Hammond, C. J., Klaver, C. C., Saw, S.-M., & Consortium for Refractive Error and Myopia (CREAM) (2016). Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications, 7: 11008. doi:10.1038/ncomms11008.

    Abstract

    Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia

    Additional information

    Fan_etal_2016sup.pdf
  • Fear, B. D., Cutler, A., & Butterfield, S. (1995). The strong/weak syllable distinction in English. Journal of the Acoustical Society of America, 97, 1893-1904. doi:10.1121/1.412063.

    Abstract

    Strong and weak syllables in English can be distinguished on the basis of vowel quality, of stress, or of both factors. Critical for deciding between these factors are syllables containing unstressed unreduced vowels, such as the first syllable of automata. In this study 12 speakers produced sentences containing matched sets of words with initial vowels ranging from stressed to reduced, at normal and at fast speech rates. Measurements of the duration, intensity, F0, and spectral characteristics of the word-initial vowels showed that unstressed unreduced vowels differed significantly from both stressed and reduced vowels. This result held true across speaker sex and dialect. The vowels produced by one speaker were then cross-spliced across the words within each set, and the resulting words' acceptability was rated by listeners. In general, cross-spliced words were only rated significantly less acceptable than unspliced words when reduced vowels interchanged with any other vowel. Correlations between rated acceptability and acoustic characteristics of the cross-spliced words demonstrated that listeners were attending to duration, intensity, and spectral characteristics. Together these results suggest that unstressed unreduced vowels in English pattern differently from both stressed and reduced vowels, so that no acoustic support for a binary categorical distinction exists; nevertheless, listeners make such a distinction, grouping unstressed unreduced vowels by preference with stressed vowels
  • Fedorenko, E., Morgan, A., Murray, E., Cardinaux, A., Mei, C., Tager-Flusberg, H., Fisher, S. E., & Kanwisher, N. (2016). A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. European Journal of Human Genetics, 24(2), 302-306. doi:10.1038/ejhg.2015.149.

    Abstract

    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
  • Felemban, D., Verdonschot, R. G., Iwamoto, Y., Uchiyama, Y., Kakimoto, N., Kreiborg, S., & Murakami, S. (2018). A quantitative experimental phantom study on MRI image uniformity. Dentomaxillofacial Radiology, 47(6): 20180077. doi:10.1259/dmfr.20180077.

    Abstract

    Objectives: Our goal was to assess MR image uniformity by investigating aspects influencing said uniformity via a method laid out by the National Electrical Manufacturers Association (NEMA).
    Methods: Six metallic materials embedded in a glass phantom were scanned (i.e. Au, Ag, Al, Au-Ag-Pd alloy, Ti and Co-Cr alloy) as well as a reference image. Sequences included spin echo (SE) and gradient echo (GRE) scanned in three planes (i.e. axial, coronal, and sagittal). Moreover, three surface coil types (i.e. head and neck, Brain, and temporomandibular joint coils) and two image correction methods (i.e. surface coil intensity correction or SCIC, phased array uniformity enhancement or PURE) were employed to evaluate their effectiveness on image uniformity. Image uniformity was assessed using the National Electrical Manufacturers Association peak-deviation non-uniformity method.
    Results: Results showed that temporomandibular joint coils elicited the least uniform image and brain coils outperformed head and neck coils when metallic materials were present. Additionally, when metallic materials were present, spin echo outperformed gradient echo especially for Co-Cr (particularly in the axial plane). Furthermore, both SCIC and PURE improved image uniformity compared to uncorrected images, and SCIC slightly surpassed PURE when metallic metals were present. Lastly, Co-Cr elicited the least uniform image while other metallic materials generally showed similar patterns (i.e. no significant deviation from images without metallic metals).
    Conclusions: Overall, a quantitative understanding of the factors influencing MR image uniformity (e.g. coil type, imaging method, metal susceptibility, and post-hoc correction method) is advantageous to optimize image quality, assists clinical interpretation, and may result in improved medical and dental care.
  • Felker, E. R., Troncoso Ruiz, A., Ernestus, M., & Broersma, M. (2018). The ventriloquist paradigm: Studying speech processing in conversation with experimental control over phonetic input. The Journal of the Acoustical Society of America, 144(4), EL304-EL309. doi:10.1121/1.5063809.

    Abstract

    This article presents the ventriloquist paradigm, an innovative method for studying speech processing in dialogue whereby participants interact face-to-face with a confederate who, unbeknownst to them, communicates by playing pre-recorded speech. Results show that the paradigm convinces more participants that the speech is live than a setup without the face-to-face element, and it elicits more interactive conversation than a setup in which participants believe their partner is a computer. By reconciling the ecological validity of a conversational context with full experimental control over phonetic exposure, the paradigm offers a wealth of new possibilities for studying speech processing in interaction.
  • Ferreri, L., & Verga, L. (2016). Benefits of music on verbal learning and memory: How and when does it work? Music Perception, 34(2), 167-182. doi:10.1525/mp.2016.34.2.167.

    Abstract

    A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.
  • Filippi, P. (2016). Emotional and Interactional Prosody across Animal Communication Systems: A Comparative Approach to the Emergence of Language. Frontiers in Psychology, 7: 1393. doi:10.3389/fpsyg.2016.01393.

    Abstract

    Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.
  • Filippi, P., Jadoul, Y., Ravignani, A., Thompson, B., & de Boer, B. (2016). Seeking Temporal Predictability in Speech: Comparing Statistical Approaches on 18 World Languages. Frontiers in Human Neuroscience, 10: 586. doi:10.3389/fnhum.2016.00586.

    Abstract

    Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.
  • Filippi, P., Gingras, B., & Fitch, W. T. (2014). Pitch enhancement facilitates word learning across visual contexts. Frontiers in Psychology, 5: 1468. doi:10.3389%2Ffpsyg.2014.01468.

    Abstract

    This study investigates word-learning using a new experimental paradigm that integrates three processes: (a) extracting a word out of a continuous sound sequence, (b) inferring its referential meanings in context, (c) mapping the segmented word onto its broader intended referent, such as other objects of the same semantic category, and to novel utterances. Previous work has examined the role of statistical learning and/or of prosody in each of these processes separately. Here, we combine these strands of investigation into a single experimental approach, in which participants viewed a photograph belonging to one of three semantic categories while hearing a complex, five-word utterance containing a target word. Six between-subjects conditions were tested with 20 adult participants each. In condition 1, the only cue to word-meaning mapping was the co-occurrence of word and referents. This statistical cue was present in all conditions. In condition 2, the target word was sounded at a higher pitch. In condition 3, random words were sounded at a higher pitch, creating an inconsistent cue. In condition 4, the duration of the target word was lengthened. In conditions 5 and 6, an extraneous acoustic cue and a visual cue were associated with the target word, respectively. Performance in this word-learning task was significantly higher than that observed with simple co-occurrence only when pitch prominence consistently marked the target word. We discuss implications for the pragmatic value of pitch marking as well as the relevance of our findings to language acquisition and language evolution.
  • Fisher, S. E., Stein, J. F., & Monaco, A. P. (1999). A genome-wide search strategy for identifying quantitative trait loci involved in reading and spelling disability (developmental dyslexia). European Child & Adolescent Psychiatry, 8(suppl. 3), S47-S51. doi:10.1007/PL00010694.

    Abstract

    Family and twin studies of developmental dyslexia have consistently shown that there is a significant heritable component for this disorder. However, any genetic basis for the trait is likely to be complex, involving reduced penetrance, phenocopy, heterogeneity and oligogenic inheritance. This complexity results in reduced power for traditional parametric linkage analysis, where specification of the correct genetic model is important. One strategy is to focus on large multigenerational pedigrees with severe phenotypes and/or apparent simple Mendelian inheritance, as has been successfully demonstrated for speech and language impairment. This approach is limited by the scarcity of such families. An alternative which has recently become feasible due to the development of high-throughput genotyping techniques is the analysis of large numbers of sib-pairs using allele-sharing methodology. This paper outlines our strategy for conducting a systematic genome-wide search for genes involved in dyslexia in a large number of affected sib-pair familites from the UK. We use a series of psychometric tests to obtain different quantitative measures of reading deficit, which should correlate with different components of the dyslexia phenotype, such as phonological awareness and orthographic coding ability. This enable us to use QTL (quantitative trait locus) mapping as a powerful tool for localising genes which may contribute to reading and spelling disability.
  • Fisher, S. E., Marlow, A. J., Lamb, J., Maestrini, E., Williams, D. F., Richardson, A. J., Weeks, D. E., Stein, J. F., & Monaco, A. P. (1999). A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. American Journal of Human Genetics, 64(1), 146-156. doi:10.1086/302190.

    Abstract

    Recent application of nonparametric-linkage analysis to reading disability has implicated a putative quantitative-trait locus (QTL) on the short arm of chromosome 6. In the present study, we use QTL methods to evaluate linkage to the 6p25-21.3 region in a sample of 181 sib pairs from 82 nuclear families that were selected on the basis of a dyslexic proband. We have assessed linkage directly for several quantitative measures that should correlate with different components of the phenotype, rather than using a single composite measure or employing categorical definitions of subtypes. Our measures include the traditional IQ/reading discrepancy score, as well as tests of word recognition, irregular-word reading, and nonword reading. Pointwise analysis by means of sib-pair trait differences suggests the presence, in 6p21.3, of a QTL influencing multiple components of dyslexia, in particular the reading of irregular words (P=.0016) and nonwords (P=.0024). A complementary statistical approach involving estimation of variance components supports these findings (irregular words, P=.007; nonwords, P=.0004). Multipoint analyses place the QTL within the D6S422-D6S291 interval, with a peak around markers D6S276 and D6S105 consistently identified by approaches based on trait differences (irregular words, P=.00035; nonwords, P=.0035) and variance components (irregular words, P=.007; nonwords, P=.0038). Our findings indicate that the QTL affects both phonological and orthographic skills and is not specific to phoneme awareness, as has been previously suggested. Further studies will be necessary to obtain a more precise localization of this QTL, which may lead to the isolation of one of the genes involved in developmental dyslexia.
  • Fisher, S. E., Hatchwell, E., Chand, A., Ockenden, N., Monaco, A. P., & Craig, I. W. (1995). Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146. Genomics, 29(2), 496-502. doi:10.1006/geno.1995.9976.

    Abstract

    We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.
  • Fisher, S. E., Van Bakel, I., Lloyd, S. E., Pearce, S. H. S., Thakker, R. V., & Craig, I. W. (1995). Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics, 29, 598-606. doi:10.1006/geno.1995.9960.

    Abstract

    Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.
  • Fisher, S. E., & Francks, C. (2006). Genes, cognition and dyslexia: Learning to read the genome. Trends in Cognitive Sciences, 10, 250-257. doi:10.1016/j.tics.2006.04.003.

    Abstract

    Studies of dyslexia provide vital insights into the cognitive architecture underpinning both disordered and normal reading. It is well established that inherited factors contribute to dyslexia susceptibility, but only very recently has evidence emerged to implicate specific candidate genes. In this article, we provide an accessible overview of four prominent examples--DYX1C1, KIAA0319, DCDC2 and ROBO1--and discuss their relevance for cognition. In each case correlations have been found between genetic variation and reading impairments, but precise risk variants remain elusive. Although none of these genes is specific to reading-related neuronal circuits, or even to the human brain, they have intriguing roles in neuronal migration or connectivity. Dissection of cognitive mechanisms that subserve reading will ultimately depend on an integrated approach, uniting data from genetic investigations, behavioural studies and neuroimaging.
  • Fisher, S. E. (2006). Tangled webs: Tracing the connections between genes and cognition. Cognition, 101, 270-297. doi:10.1016/j.cognition.2006.04.004.

    Abstract

    The rise of molecular genetics is having a pervasive influence in a wide variety of fields, including research into neurodevelopmental disorders like dyslexia, speech and language impairments, and autism. There are many studies underway which are attempting to determine the roles of genetic factors in the aetiology of these disorders. Beyond the obvious implications for diagnosis, treatment and understanding, success in these efforts promises to shed light on the links between genes and aspects of cognition and behaviour. However, the deceptive simplicity of finding correlations between genetic and phenotypic variation has led to a common misconception that there exist straightforward linear relationships between specific genes and particular behavioural and/or cognitive outputs. The problem is exacerbated by the adoption of an abstract view of the nature of the gene, without consideration of molecular, developmental or ontogenetic frameworks. To illustrate the limitations of this perspective, I select two cases from recent research into the genetic underpinnings of neurodevelopmental disorders. First, I discuss the proposal that dyslexia can be dissected into distinct components specified by different genes. Second, I review the story of the FOXP2 gene and its role in human speech and language. In both cases, adoption of an abstract concept of the gene can lead to erroneous conclusions, which are incompatible with current knowledge of molecular and developmental systems. Genes do not specify behaviours or cognitive processes; they make regulatory factors, signalling molecules, receptors, enzymes, and so on, that interact in highly complex networks, modulated by environmental influences, in order to build and maintain the brain. I propose that it is necessary for us to fully embrace the complexity of biological systems, if we are ever to untangle the webs that link genes to cognition.
  • Fisher, S. E., & Marcus, G. (2006). The eloquent ape: Genes, brains and the evolution of language. Nature Reviews Genetics, 7, 9-20. doi:10.1038/nrg1747.

    Abstract

    The human capacity to acquire complex language seems to be without parallel in the natural world. The origins of this remarkable trait have long resisted adequate explanation, but advances in fields that range from molecular genetics to cognitive neuroscience offer new promise. Here we synthesize recent developments in linguistics, psychology and neuroimaging with progress in comparative genomics, gene-expression profiling and studies of developmental disorders. We argue that language should be viewed not as a wholesale innovation, but as a complex reconfiguration of ancestral systems that have been adapted in evolutionarily novel ways.
  • FitzPatrick, I., & Indefrey, P. (2016). Accessing Conceptual Representations for Speaking [Editorial]. Frontiers in Psychology, 7: 1216. doi:10.3389/fpsyg.2016.01216.

    Abstract

    Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.
  • FitzPatrick, I., & Indefrey, P. (2014). Head start for target language in bilingual listening. Brain Research, 1542, 111-130. doi:10.1016/j.brainres.2013.10.014.

    Abstract

    In this study we investigated the availability of non-target language semantic features in bilingual speech processing. We recorded EEG from Dutch-English bilinguals who listened to spoken sentences in their L2 (English) or L1 (Dutch). In Experiments 1 and 3 the sentences contained an interlingual homophone. The sentence context was either biased towards the target language meaning of the homophone (target biased), the non-target language meaning (non-target biased), or neither meaning of the homophone (fully incongruent). These conditions were each compared to a semantically congruent control condition. In L2 sentences we observed an N400 in the non-target biased condition that had an earlier offset than the N400 to fully incongruent homophones. In the target biased condition, a negativity emerged that was later than the N400 to fully incongruent homophones. In L1 contexts, neither target biased nor non-target biased homophones yielded significant N400 effects (compared to the control condition). In Experiments 2 and 4 the sentences contained a language switch to a non-target language word that could be semantically congruent or incongruent. Semantically incongruent words (switched, and non-switched) elicited an N400 effect. The N400 to semantically congruent language-switched words had an earlier offset than the N400 to incongruent words. Both congruent and incongruent language switches elicited a Late Positive Component (LPC). These findings show that bilinguals activate both meanings of interlingual homophones irrespective of their contextual fit. In L2 contexts, the target-language meaning of the homophone has a head start over the non-target language meaning. The target-language head start is also evident for language switches from both L2-to-L1 and L1-to-L2
  • Flecken, M., von Stutterheim, C., & Carroll, M. (2014). Grammatical aspect influences motion event perception: Evidence from a cross-linguistic non-verbal recognition task. Language and Cognition, 6(1), 45-78. doi:10.1017/langcog.2013.2.

    Abstract

    Using eye-tracking as a window on cognitive processing, this study investigates language effects on attention to motion events in a non-verbal task. We compare gaze allocation patterns by native speakers of German and Modern Standard Arabic (MSA), two languages that differ with regard to the grammaticalization of temporal concepts. Findings of the non-verbal task, in which speakers watch dynamic event scenes while performing an auditory distracter task, are compared to gaze allocation patterns which were obtained in an event description task, using the same stimuli. We investigate whether differences in the grammatical aspectual systems of German and MSA affect the extent to which endpoints of motion events are linguistically encoded and visually processed in the two tasks. In the linguistic task, we find clear language differences in endpoint encoding and in the eye-tracking data (attention to event endpoints) as well: German speakers attend to and linguistically encode endpoints more frequently than speakers of MSA. The fixation data in the non-verbal task show similar language effects, providing relevant insights with regard to the language-and-thought debate. The present study is one of the few studies that focus explicitly on language effects related to grammatical concepts, as opposed to lexical concepts.
  • Floyd, S. (2014). [Review of the book Flexible word classes: Typological studies of underspecified parts of speech ed. by Jan Rijkhoff and Eva van Lier]. Linguistics, 52, 1499-1502. doi:10.1515/ling-2014-0027.
  • Floyd, S. (2016). [Review of the book Fluent Selves: Autobiography, Person, and History in Lowland South America ed. by Suzanne Oakdale and Magnus Course]. Journal of Linguistic Anthropology, 26(1), 110-111. doi:10.1111/jola.12112.
  • Floyd, S. (2016). Modally hybrid grammar? Celestial pointing for time-of-day reference in Nheengatú. Language, 92(1), 31-64. doi:10.1353/lan.2016.0013.

    Abstract

    From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.
  • Floyd, S., San Roque, L., & Majid, A. (2018). Smell is coded in grammar and frequent in discourse: Cha'palaa olfactory language in cross-linguistic perspective. Journal of Linguistic Anthropology, 28(2), 175-196. doi:10.1111/jola.12190.

    Abstract

    It has long been claimed that there is no lexical field of smell, and that smell is of too little validity to be expressed in grammar. We demonstrate both claims are false. The Cha'palaa language (Ecuador) has at least 15 abstract smell terms, each of which is formed using a type of classifier previously thought not to exist. Moreover, using conversational corpora we show that Cha'palaa speakers also talk about smell more than Imbabura Quechua and English speakers. Together, this shows how language and social interaction may jointly reflect distinct cultural orientations towards sensory experience in general and olfaction in particular.
  • Floyd, S., Manrique, E., Rossi, G., & Torreira, F. (2016). Timing of visual bodily behavior in repair sequences: Evidence from three languages. Discourse Processes, 53(3), 175-204. doi:10.1080/0163853X.2014.992680.

    Abstract

    This article expands the study of other-initiated repair in conversation—when one party
    signals a problemwith producing or perceiving another’s turn at talk—into the domain
    of visual bodily behavior. It presents one primary cross-linguistic finding about the
    timing of visual bodily behavior in repair sequences: if the party who initiates repair
    accompanies their turn with a “hold”—when relatively dynamic movements are
    temporarily andmeaningfully held static—this positionwill not be disengaged until the
    problem is resolved and the sequence closed. We base this finding on qualitative and
    quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
    uncovered by this comparison suggest that visual bodily practices have been
    semiotized for similar interactive functions across different languages and modalities
    due to common pressures in face-to-face interaction.
  • Floyd, S., Rossi, G., Baranova, J., Blythe, J., Dingemanse, M., Kendrick, K. H., Zinken, J., & Enfield, N. J. (2018). Universals and cultural diversity in the expression of gratitude. Royal Society Open Science, 5: 180391. doi:10.1098/rsos.180391.

    Abstract

    Gratitude is argued to have evolved to motivate and maintain social reciprocity among people, and to be linked to a wide range of positive effects — social, psychological, and even physical. But is socially reciprocal behaviour dependent on the expression of gratitude, for example by saying "thank you" as in English? Current research has not included cross-cultural elements, and has tended to conflate gratitude as an emotion with gratitude as a linguistic practice, as might appear to be the case in English. Here we ask to what extent people actually express gratitude in different societies by focussing on episodes of everyday life where someone obtains a good, service, or support from another, and comparing these episodes across eight languages from five continents. What we find is that expressions of gratitude in these episodes are remarkably rare, suggesting that social reciprocity in everyday life relies on tacit understandings of people’s rights and duties surrounding mutual assistance and collaboration. At the same time, we also find minor cross-cultural variation, with slightly higher rates in Western European languages English and Italian, showing that universal tendencies of social reciprocity should not be conflated with more culturally variable practices of expressing gratitude. Our study complements previous experimental and culture-specific research on social reciprocity with a systematic comparison of audiovisual corpora of naturally occurring social interaction from different cultures from around the world.

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