Publications

Displaying 201 - 300 of 1153
  • Dikshit, A. P., Mishra, C., Das, D., & Parashar, S. (2023). Frequency and temperature-dependence ZnO based fractional order capacitor using machine learning. Materials Chemistry and Physics, 307: 128097. doi:10.1016/j.matchemphys.2023.128097.

    Abstract

    This paper investigates the fractional order behavior of ZnO ceramics at different frequencies. ZnO ceramic was prepared by high energy ball milling technique (HEBM) sintered at 1300℃ to study the frequency response properties. The frequency response properties (impedance and phase
    angles) were examined by analyzing through impedance analyzer (100 Hz - 1 MHz). Constant phase angles (84°-88°) were obtained at low temperature ranges (25 ℃-125 ℃). The structural and
    morphological composition of the ZnO ceramic was investigated using X-ray diffraction techniques and FESEM. Raman spectrum was studied to understand the different modes of ZnO ceramics. Machine learning (polynomial regression) models were trained on a dataset of 1280
    experimental values to accurately predict the relationship between frequency and temperature with respect to impedance and phase values of the ZnO ceramic FOC. The predicted impedance values were found to be in good agreement (R2 ~ 0.98, MSE ~ 0.0711) with the experimental results.
    Impedance values were also predicted beyond the experimental frequency range (at 50 Hz and 2 MHz) for different temperatures (25℃ - 500℃) and for low temperatures (10°, 15° and 20℃)
    within the frequency range (100Hz - 1MHz).

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  • 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., & Klein, W. (2009). Einleitung. Zeitschrift für Literaturwissenschaft und Linguistik, 153, 5-9.
  • Dimroth, C. (2009). L'acquisition de la finitude en allemand L2 à différents âges. AILE (Acquisition et Interaction en Langue étrangère)/LIA (Languages, Interaction, Acquisition), 1(1), 113-135.

    Abstract

    Ultimate attainment in adult second language learners often differs tremendously from the end state typically achieved by young children learning their first language (L1) or a second language (L2). The research summarized in this article concentrates on developmental steps and orders of acquisition attested in learners of different ages. Findings from a longitudinal study concerned with the acquisition of verbal morpho-syntax in German as an L2 by two young Russian learners (8 and 14 years old) are compared to findings from the acquisition of the same target language by younger children and by untutored adult learners. The study focuses on the acquisition of verbal morphology, the role of auxiliary verbs and the position of finite and non finite verbs in relation to negation and additive scope particles.
  • Dimroth, C. (2009). Lernervarietäten im Sprachunterricht. Zeitschrift für Literaturwissenschaft und Linguistik, 39(153), 60-80.
  • 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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  • Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L., Van Reeuwijk, J., De Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I. J., Den Hoed, J., De Boer, E., Coenen-Van der Spek, J., Jansen, S., Van Bon, B. W., Jonis, N., Ockeloen, C. W., Vulto-van Silfhout, A. T., Kleefstra, T., Koolen, D. A., Campeau, P. M. and 13 moreDingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L., Van Reeuwijk, J., De Leeuw, N., Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I. J., Den Hoed, J., De Boer, E., Coenen-Van der Spek, J., Jansen, S., Van Bon, B. W., Jonis, N., Ockeloen, C. W., Vulto-van Silfhout, A. T., Kleefstra, T., Koolen, D. A., Campeau, P. M., Palmer, E. E., Van Esch, H., Lyon, G. J., Alkuraya, F. S., Rauch, A., Marom, R., Baralle, D., Van der Sluijs, P. J., Santen, G. W. E., Kooy, R. F., Van Gerven, M. A. J., Vissers, L. E. L. M., & De Vries, B. B. A. (2023). PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics, 55, 1598-1607. doi:10.1038/s41588-023-01469-w.

    Abstract

    Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore’s ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype–phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.

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  • Dingemanse, M., Liesenfeld, A., Rasenberg, M., Albert, S., Ameka, F. K., Birhane, A., Bolis, D., Cassell, J., Clift, R., Cuffari, E., De Jaegher, H., Dutilh Novaes, C., Enfield, N. J., Fusaroli, R., Gregoromichelaki, E., Hutchins, E., Konvalinka, I., Milton, D., Rączaszek-Leonardi, J., Reddy, V. and 8 moreDingemanse, M., Liesenfeld, A., Rasenberg, M., Albert, S., Ameka, F. K., Birhane, A., Bolis, D., Cassell, J., Clift, R., Cuffari, E., De Jaegher, H., Dutilh Novaes, C., Enfield, N. J., Fusaroli, R., Gregoromichelaki, E., Hutchins, E., Konvalinka, I., Milton, D., Rączaszek-Leonardi, J., Reddy, V., Rossano, F., Schlangen, D., Seibt, J., Stokoe, E., Suchman, L. A., Vesper, C., Wheatley, T., & Wiltschko, M. (2023). Beyond single-mindedness: A figure-ground reversal for the cognitive sciences. Cognitive Science, 47(1): e13230. doi:10.1111/cogs.13230.

    Abstract

    A fundamental fact about human minds is that they are never truly alone: all minds are steeped in situated interaction. That social interaction matters is recognised by any experimentalist who seeks to exclude its influence by studying individuals in isolation. On this view, interaction complicates cognition. Here we explore the more radical stance that interaction co-constitutes cognition: that we benefit from looking beyond single minds towards cognition as a process involving interacting minds. All around the cognitive sciences, there are approaches that put interaction centre stage. Their diverse and pluralistic origins may obscure the fact that collectively, they harbour insights and methods that can respecify foundational assumptions and fuel novel interdisciplinary work. What might the cognitive sciences gain from stronger interactional foundations? This represents, we believe, one of the key questions for the future. Writing as a multidisciplinary collective assembled from across the classic cognitive science hexagon and beyond, we highlight the opportunity for a figure-ground reversal that puts interaction at the heart of cognition. The interactive stance is a way of seeing that deserves to be a key part of the conceptual toolkit of cognitive scientists.
  • Dingemanse, M., & Akita, K. (2017). An inverse relation between expressiveness and grammatical integration: on the morphosyntactic typology of ideophones, with special reference to Japanese. Journal of Linguistics, 53(3), 501-532. doi:10.1017/S002222671600030X.

    Abstract

    Words and phrases may differ in the extent to which they are susceptible to prosodic foregrounding and expressive morphology: their expressiveness. They may also differ in the degree to which they are integrated in the morphosyntactic structure of the utterance: their grammatical integration. We describe an inverse relation that holds across widely varied languages, such that more expressiveness goes together with less grammatical integration, and vice versa. We review typological evidence for this inverse relation in 10 languages, then quantify and explain it using Japanese corpus data. We do this by tracking ideophones —vivid sensory words also known as mimetics or expressives— across different morphosyntactic contexts and measuring their expressiveness in terms of intonation, phonation and expressive morphology. We find that as expressiveness increases, grammatical integration decreases. Using gesture as a measure independent of the speech signal, we find that the most expressive ideophones are most likely to come together with iconic gestures. We argue that the ultimate cause is the encounter of two distinct and partly incommensurable modes of representation: the gradient, iconic, depictive system represented by ideophones and iconic gestures and the discrete, arbitrary, descriptive system represented by ordinary words. The study shows how people combine modes of representation in speech and demonstrates the value of integrating description and depiction into the scientific vision of language.

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  • 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. (2009). Kããã [finalist photo in the 2008 AAA Photo Contest]. Anthropology News, 50(3), 23-23.

    Abstract

    Kyeei Yao, an age group leader, oversees a festival in Akpafu-Mempeasem, Volta Region, Ghana. The expensive draped cloth, Ashanti-inspired wreath, strings of beads that are handed down through the generations, and digital wristwatch work together to remind us that culture is a moving target, always renewing and reshaping itself. Kããã is a Siwu ideophone for "looking attentively".
  • Dingemanse, M. (2017). Expressiveness and system integration: On the typology of ideophones, with special reference to Siwu. STUF - Language Typology and Universals, 70(2), 363-384. doi:10.1515/stuf-2017-0018.

    Abstract

    Ideophones are often described as words that are highly expressive and morphosyntactically marginal. A study of ideophones in everyday conversations in Siwu (Kwa, eastern Ghana) reveals a landscape of variation and change that sheds light on some larger questions in the morphosyntactic typology of ideophones. The article documents a trade-off between expressiveness and morphosyntactic integration, with high expressiveness linked to low integration and vice versa. It also describes a pathway for deideophonisation and finds that frequency of use is a factor that influences the degree to which ideophones can come to be more like ordinary words. The findings have implications for processes of (de)ideophonisation, ideophone borrowing, and ideophone typology. A key point is that the internal diversity we find in naturally occurring data, far from being mere noise, is patterned variation that can help us to get a handle on the factors shaping ideophone systems within and across languages.
  • Dingemanse, M. (2009). The enduring spoken word [Comment on Oard 2008]. Science, 323(5917), 1010-1011. doi:10.1126/science.323.5917.1010b.
  • Dingemanse, M., Rossi, G., & Floyd, S. (2017). Place reference in story beginnings: a cross-linguistic study of narrative and interactional affordances. Language in Society, 46(2), 129-158. doi:10.1017/S0047404516001019.

    Abstract

    People often begin stories in conversation by referring to person, time, and place. We study story beginnings in three societies and find place reference is recurrently used to (i) set the stage, foreshadowing the type of story and the kind of response due, and to (ii) make the story cohere, anchoring elements of the developing story. Recipients orient to these interactional affordances of place reference by responding in ways that attend to the relevance of place for the story and by requesting clarification when references are incongruent or noticeably absent. The findings are based on 108 story beginnings in three unrelated languages: Cha’palaa, a Barbacoan language of Ecuador; Northern Italian, a Romance language of Italy; and Siwu, a Kwa language of Ghana. The commonalities suggest we have identified generic affordances of place reference, and that storytelling in conversation offers a robust sequential environment for systematic comparative research on conversational structures.
  • Dingemanse, M. (2009). The selective advantage of body-part terms. Journal of Pragmatics, 41(10), 2130-2136. doi:10.1016/j.pragma.2008.11.008.

    Abstract

    This paper addresses the question why body-part terms are so often used to talk about other things than body parts. It is argued that the strategy of falling back on stable common ground to maximize the chances of successful communication is the driving force behind the selective advantage of body-part terms. The many different ways in which languages may implement this universal strategy suggest that, in order to properly understand the privileged role of the body in the evolution of linguistic signs, we have to look beyond the body to language in its socio-cultural context. A theory which acknowledges the interacting influences of stable common ground and diversified cultural practices on the evolution of linguistic signs will offer the most explanatory power for both universal patterns and language-specific variation.
  • 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
  • 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.
  • Doerig, A., Sommers, R. P., Seeliger, K., Richards, B., Ismael, J., Lindsay, G. W., Kording, K. P., Konkle, T., Van Gerven, M. A. J., Kriegeskorte, N., & Kietzmann, T. C. (2023). The neuroconnectionist research programme. Nature Reviews Neuroscience, 24, 431-450. doi:10.1038/s41583-023-00705-w.

    Abstract

    Artificial neural networks (ANNs) inspired by biology are beginning to be widely used to model behavioural and neural data, an approach we call ‘neuroconnectionism’. ANNs have been not only lauded as the current best models of information processing in the brain but also criticized for failing to account for basic cognitive functions. In this Perspective article, we propose that arguing about the successes and failures of a restricted set of current ANNs is the wrong approach to assess the promise of neuroconnectionism for brain science. Instead, we take inspiration from the philosophy of science, and in particular from Lakatos, who showed that the core of a scientific research programme is often not directly falsifiable but should be assessed by its capacity to generate novel insights. Following this view, we present neuroconnectionism as a general research programme centred around ANNs as a computational language for expressing falsifiable theories about brain computation. We describe the core of the programme, the underlying computational framework and its tools for testing specific neuroscientific hypotheses and deriving novel understanding. Taking a longitudinal view, we review past and present neuroconnectionist projects and their responses to challenges and argue that the research programme is highly progressive, generating new and otherwise unreachable insights into the workings of the brain.
  • Doherty, M., & Klein, W. (Eds.). (1991). Übersetzung [Special Issue]. Zeitschrift für Literaturwissenschaft und Linguistik, (84).
  • D’Onofrio, G., Accogli, A., Severino, M., Caliskan, H., Kokotović, T., Blazekovic, A., Jercic, K. G., Markovic, S., Zigman, T., Goran, K., Barišić, N., Duranovic, V., Ban, A., Borovecki, F., Ramadža, D. P., Barić, I., Fazeli, W., Herkenrath, P., Marini, C., Vittorini, R. and 30 moreD’Onofrio, G., Accogli, A., Severino, M., Caliskan, H., Kokotović, T., Blazekovic, A., Jercic, K. G., Markovic, S., Zigman, T., Goran, K., Barišić, N., Duranovic, V., Ban, A., Borovecki, F., Ramadža, D. P., Barić, I., Fazeli, W., Herkenrath, P., Marini, C., Vittorini, R., Gowda, V., Bouman, A., Rocca, C., Alkhawaja, I. A., Murtaza, B. N., Rehman, M. M. U., Al Alam, C., Nader, G., Mancardi, M. M., Giacomini, T., Srivastava, S., Alvi, J. R., Tomoum, H., Matricardi, S., Iacomino, M., Riva, A., Scala, M., Madia, F., Pistorio, A., Salpietro, V., Minetti, C., Rivière, J.-B., Srour, M., Efthymiou, S., Maroofian, R., Houlden, H., Vernes, S. C., Zara, F., Striano, P., & Nagy, V. (2023). Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Human Genetics, 142, 909-925. doi:10.1007/s00439-023-02552-2.

    Abstract

    Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype–phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype–phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.

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    supplementary tables
  • 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. (2017). Visual context enhanced: The joint contribution of iconic gestures and visible speech to degraded speech comprehension. Journal of Speech, Language, and Hearing Research, 60, 212-222. doi:10.1044/2016_JSLHR-H-16-0101.

    Abstract

    Purpose This study investigated whether and to what extent iconic co-speech gestures contribute to information from visible speech to enhance degraded speech comprehension at different levels of noise-vocoding. Previous studies of the contributions of these 2 visual articulators to speech comprehension have only been performed separately.

    Method Twenty participants watched videos of an actress uttering an action verb and completed a free-recall task. The videos were presented in 3 speech conditions (2-band noise-vocoding, 6-band noise-vocoding, clear), 3 multimodal conditions (speech + lips blurred, speech + visible speech, speech + visible speech + gesture), and 2 visual-only conditions (visible speech, visible speech + gesture).

    Results Accuracy levels were higher when both visual articulators were present compared with 1 or none. The enhancement effects of (a) visible speech, (b) gestural information on top of visible speech, and (c) both visible speech and iconic gestures were larger in 6-band than 2-band noise-vocoding or visual-only conditions. Gestural enhancement in 2-band noise-vocoding did not differ from gestural enhancement in visual-only conditions.
  • Drijvers, L., & Holler, J. (2023). The multimodal facilitation effect in human communication. Psychonomic Bulletin & Review, 30(2), 792-801. doi:10.3758/s13423-022-02178-x.

    Abstract

    During face-to-face communication, recipients need to rapidly integrate a plethora of auditory and visual signals. This integration of signals from many different bodily articulators, all offset in time, with the information in the speech stream may either tax the cognitive system, thus slowing down language processing, or may result in multimodal facilitation. Using the classical shadowing paradigm, participants shadowed speech from face-to-face, naturalistic dyadic conversations in an audiovisual context, an audiovisual context without visual speech (e.g., lips), and an audio-only context. Our results provide evidence of a multimodal facilitation effect in human communication: participants were faster in shadowing words when seeing multimodal messages compared with when hearing only audio. Also, the more visual context was present, the fewer shadowing errors were made, and the earlier in time participants shadowed predicted lexical items. We propose that the multimodal facilitation effect may contribute to the ease of fast face-to-face conversational interaction.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2017). L2 voice recognition: The role of speaker-, listener-, and stimulus-related factors. The Journal of the Acoustical Society of America, 142(5), 3058-3068. doi:10.1121/1.5010169.

    Abstract

    Previous studies examined various factors influencing voice recognition and learning with mixed results. The present study investigates the separate and combined contribution of these various speaker-, stimulus-, and listener-related factors to voice recognition. Dutch listeners, with arguably incomplete phonological and lexical knowledge in the target language, English, learned to recognize the voice of four native English speakers, speaking in English, during four-day training. Training was successful and listeners' accuracy was shown to be influenced by the acoustic characteristics of speakers and the sound composition of the words used in the training, but not by lexical frequency of the words, nor the lexical knowledge of the listeners or their phonological aptitude. Although not conclusive, listeners with a lower working memory capacity seemed to be slower in learning voices than listeners with a higher working memory capacity. The results reveal that speaker-related, listener-related, and stimulus-related factors accumulate in voice recognition, while lexical information turns out not to play a role in successful voice learning and recognition. This implies that voice recognition operates at the prelexical processing level.
  • 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. (2009). Nasal harmony in Awetí ‐ A declarative account. ReVEL - Revista Virtual de Estudos da Linguagem, (3). Retrieved from http://www.revel.inf.br/en/edicoes/?mode=especial&id=16.

    Abstract

    This article describes and analyses nasal harmony (or spreading of nasality) in Awetí. It first shows generally how sounds in prefixes adapt to nasality or orality of stems, and how nasality in stems also ‘extends’ to the left. With abstract templates we show which phonetically nasal or oral sequences are possible in Awetí (focusing on stops, pre-nasalized stops and nasals) and which phonological analysis is appropriate for account for this regularities. In Awetí, there are intrinsically nasal and oral vowels and ‘neutral’ vowels which adapt phonetically to a following vowel or consonant, as is the case of sonorant consonants. Pre-nasalized stops such as “nt” are nasalized variants of stops, not post-oralized variants of nasals as in Tupí-Guaranian languages. For nasals and stops in syllable coda (end of morphemes), we postulate arqui-phonemes which adapt to the preceding vowel or a following consonant. Finally, using a declarative approach, the analysis formulates ‘rules’ (statements) which account for the ‘behavior’ of nasality in Awetí words, making use of “structured sequences” on both the phonetic and phonological levels. So, each unit (syllable, morpheme, word etc.) on any level has three components, a sequence of segments, a constituent structure (where pre-nasalized stops, like diphthongs, correspond to two segments), and an intonation structure. The statements describe which phonetic variants can be combined (concatenated) with which other variants, depending on their nasality or orality.
  • Duffield, N., Matsuo, A., & Roberts, L. (2009). Factoring out the parallelism effect in VP-ellipsis: English vs. Dutch contrasts. Second Language Research, 25, 427-467. doi:10.1177/0267658309349425.

    Abstract

    Previous studies, including Duffield and Matsuo (2001; 2002; 2009), have demonstrated second language learners’ overall sensitivity to a parallelism constraint governing English VP-ellipsis constructions: like native speakers (NS), advanced Dutch, Spanish and Japanese learners of English reliably prefer ellipsis clauses with structurally parallel antecedents over those with non-parallel antecedents. However, these studies also suggest that, in contrast to English native speakers, L2 learners’ sensitivity to parallelism is strongly influenced by other non-syntactic formal factors, such that the constraint applies in a comparatively restricted range of construction-specific contexts. This article reports a set of follow-up experiments — from both computer-based as well as more traditional acceptability judgement tasks — that systematically manipulates these other factors. Convergent results from these tasks confirm a qualitative difference in the judgement patterns of the two groups, as well as important differences between theoreticians’ judgements and those of typical native speakers. We consider the implications of these findings for theories of ultimate attainment in second language acquisition (SLA), as well as for current theoretical accounts of ellipsis.
  • Düngen, D., Fitch, W. T., & Ravignani, A. (2023). Hoover the talking seal [quick guide]. Current Biology, 33, R50-R52. doi:10.1016/j.cub.2022.12.023.
  • Düngen, D., & Ravignani, A. (2023). The paradox of learned song in a semi-solitary mammal. Ethology, 129(9), 445-497. doi:10.1111/eth.13385.

    Abstract

    Learning can occur via trial and error; however, learning from conspecifics is faster and more efficient. Social animals can easily learn from conspecifics, but how do less social species learn? In particular, birds provide astonishing examples of social learning of vocalizations, while vocal learning from conspecifics is much less understood in mammals. We present a hypothesis aimed at solving an apparent paradox: how can harbor seals (Phoca vitulina) learn their song when their whole lives are marked by loose conspecific social contact? Harbor seal pups are raised individually by their mostly silent mothers. Pups' first few weeks of life show developed vocal plasticity; these weeks are followed by relatively silent years until sexually mature individuals start singing. How can this rather solitary life lead to a learned song? Why do pups display vocal plasticity at a few weeks of age, when this is apparently not needed? Our hypothesis addresses these questions and tries to explain how vocal learning fits into the natural history of harbor seals, and potentially other less social mammals. We suggest that harbor seals learn during a sensitive period within puppyhood, where they are exposed to adult males singing. In particular, we hypothesize that, to make this learning possible, the following happens concurrently: (1) mothers give birth right before male singing starts, (2) pups enter a sensitive learning phase around weaning time, which (3) coincides with their foraging expeditions at sea which, (4) in turn, coincide with the peak singing activity of adult males. In other words, harbor seals show vocal learning as pups so they can acquire elements of their future song from adults, and solitary adults can sing because they have acquired these elements as pups. We review the available evidence and suggest that pups learn adult vocalizations because they are born exactly at the right time to eavesdrop on singing adults. We conclude by advancing empirical predictions and testable hypotheses for future work.
  • Dunn, M. (2009). Contact and phylogeny in Island Melanesia. Lingua, 11(11), 1664-1678. doi:10.1016/j.lingua.2007.10.026.

    Abstract

    This paper shows that despite evidence of structural convergence between some of the Austronesian and non-Austronesian (Papuan) languages of Island Melanesia, statistical methods can detect two independent genealogical signals derived from linguistic structural features. Earlier work by the author and others has presented a maximum parsimony analysis which gave evidence for a genealogical connection between the non-Austronesian languages of island Melanesia. Using the same data set, this paper demonstrates for the non-statistician the application of more sophisticated statistical techniques—including Bayesian methods of phylogenetic inference, and shows that the evidence for common ancestry is if anything stronger than originally supposed.
  • Dunn, M. (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.
  • 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., Van Krieken, K., Sanders, J., & Willems, R. M. (2023). Engagement with narrative characters: The role of social-cognitive abilities and linguistic viewpoint. Discourse Processes, 60(6), 411-439. doi:10.1080/0163853X.2023.2206773.

    Abstract

    This article explores the role of text and reader characteristics in character engagement experiences. In an online study, participants completed several self-report and behavioral measures of social-cognitive abilities and read two literary narratives in which the presence of linguistic viewpoint markers was varied using a highly controlled manipulation strategy. Afterward, participants reported on their character engagement experiences. A principal component analysis on participants’ responses revealed the multidimensional nature of character engagement, which included both self- and other-oriented emotional responses (e.g., empathy, personal distress) as well as more cognitive responses (e.g., identification, perspective taking). Furthermore, character engagement was found to rely on a wide range of social-cognitive abilities but not on the presence of viewpoint markers. Finally, and most importantly, we did not find convincing evidence for an interplay between social-cognitive abilities and the presence of viewpoint markers. These findings suggest that readers rely on their social-cognitive abilities to engage with the inner worlds of fictional others, more so than on the lexical cues of those inner worlds provided by the text.
  • Eibl-Eibesfeldt, I., & Senft, G. (1991). Trobriander (Papua-Neu-guinea, Trobriand -Inseln, Kaile'una) Tänze zur Einleitung des Erntefeier-Rituals. Film E 3129. Trobriander (Papua-Neuguinea, Trobriand-Inseln, Kiriwina); Ausschnitte aus einem Erntefesttanz. Film E3130. Publikationen zu wissenschaftlichen Filmen. Sektion Ethnologie, 17, 1-17.
  • Eimer, M., Kiss, M., Press, C., & Sauter, D. (2009). The roles of feature-specific task set and bottom-up salience in attentional capture: An ERP study. Journal of Experimental Psychology: Human Perception and Performance, 35, 1316-1328. doi:10.1037/a0015872.

    Abstract

    We investigated the roles of top-down task set and bottom-up stimulus salience for feature-specific attentional capture. ERPs and behavioural performance were measured in two experiments where spatially nonpredictive cues preceded visual search arrays that included a colour-defined target. When cue arrays contained a target-colour singleton, behavioural spatial cueing effects were accompanied by a cue-induced N2pc component, indicative of attentional capture. Behavioural cueing effects and N2pc components were only minimally attenuated for non-singleton relative to singleton target-colour cues, demonstrating that top-down task set has a much greater impact on attentional capture than bottom-up salience. For nontarget-colour singleton cues, no N2pc was triggered, but an anterior N2 component indicative of top-down inhibition was observed. In Experiment 2, these cues produced an inverted behavioural cueing effect, which was accompanied by a delayed N2pc to targets presented at cued locations. These results suggest that perceptually salient visual stimuli without task-relevant features trigger a transient location-specific inhibition process that prevents attentional capture, but delays the selection of subsequent target events.
  • Eising, E., Shyti, R., 'T hoen, P. A. C., Vijfhuizen, L. S., Huisman, S. M. H., Broos, L. A. M., Mahfourz, A., Reinders, M. J. T., Ferrrari, M. D., Tolner, E. A., De Vries, B., & Van den Maagdenberg, A. M. J. M. (2017). Cortical spreading depression causes unique dysregulation of inflammatory pathways in a transgenic mouse model of migraine. Molecular Biology, 54(4), 2986-2996. doi:10.1007/s12035-015-9681-5.

    Abstract

    Familial hemiplegic migraine type 1 (FHM1) is a
    rare monogenic subtype of migraine with aura caused by mutations
    in CACNA1A that encodes the α1A subunit of voltagegated
    CaV2.1 calcium channels. Transgenic knock-in mice
    that carry the human FHM1 R192Q missense mutation
    (‘FHM1 R192Q mice’) exhibit an increased susceptibility to
    cortical spreading depression (CSD), the mechanism underlying
    migraine aura. Here, we analysed gene expression profiles
    from isolated cortical tissue of FHM1 R192Q mice 24 h after
    experimentally induced CSD in order to identify molecular
    pathways affected by CSD. Gene expression profiles were
    generated using deep serial analysis of gene expression sequencing.
    Our data reveal a signature of inflammatory signalling
    upon CSD in the cortex of both mutant and wild-type
    mice. However, only in the brains of FHM1 R192Q mice
    specific genes are up-regulated in response to CSD that are
    implicated in interferon-related inflammatory signalling. Our
    findings show that CSD modulates inflammatory processes in
    both wild-type and mutant brains, but that an additional
    unique inflammatory signature becomes expressed after
    CSD in a relevant mouse model of migraine.
  • 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., Pelzer, N., Vijfhuizen, L. S., De Vries, B., Ferrari, M. D., 'T Hoen, P. A. C., Terwindt, G. M., & Van den Maagdenberg, A. M. J. M. (2017). Identifying a gene expression signature of cluster headache in blood. Scientific Reports, 7: 40218. doi:10.1038/srep40218.

    Abstract

    Cluster headache is a relatively rare headache disorder, typically characterized by multiple daily, short-lasting attacks of excruciating, unilateral (peri-)orbital or temporal pain associated with autonomic symptoms and restlessness. To better understand the pathophysiology of cluster headache, we used RNA sequencing to identify differentially expressed genes and pathways in whole blood of patients with episodic (n = 19) or chronic (n = 20) cluster headache in comparison with headache-free controls (n = 20). Gene expression data were analysed by gene and by module of co-expressed genes with particular attention to previously implicated disease pathways including hypocretin dysregulation. Only moderate gene expression differences were identified and no associations were found with previously reported pathogenic mechanisms. At the level of functional gene sets, associations were observed for genes involved in several brain-related mechanisms such as GABA receptor function and voltage-gated channels. In addition, genes and modules of co-expressed genes showed a role for intracellular signalling cascades, mitochondria and inflammation. Although larger study samples may be required to identify the full range of involved pathways, these results indicate a role for mitochondria, intracellular signalling and inflammation in cluster headache

    Additional information

    Eising_etal_2017sup.pdf
  • 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.
  • Emmendorfer, A. K., Bonte, M., Jansma, B. M., & Kotz, S. A. (2023). Sensitivity to syllable stress regularities in externally but not self‐triggered speech in Dutch. European Journal of Neuroscience, 58(1), 2297-2314. doi:10.1111/ejn.16003.

    Abstract

    Several theories of predictive processing propose reduced sensory and neural responses to anticipated events. Support comes from magnetoencephalography/electroencephalography (M/EEG) studies, showing reduced auditory N1 and P2 responses to self-generated compared to externally generated events, or when the timing and form of stimuli are more predictable. The current study examined the sensitivity of N1 and P2 responses to statistical speech regularities. We employed a motor-to-auditory paradigm comparing event-related potential (ERP) responses to externally and self-triggered pseudowords. Participants were presented with a cue indicating which button to press (motor-auditory condition) or which pseudoword would be presented (auditory-only condition). Stimuli consisted of the participant's own voice uttering pseudowords that varied in phonotactic probability and syllable stress. We expected to see N1 and P2 suppression for self-triggered stimuli, with greater suppression effects for more predictable features such as high phonotactic probability and first-syllable stress in pseudowords. In a temporal principal component analysis (PCA), we observed an interaction between syllable stress and condition for the N1, where second-syllable stress items elicited a larger N1 than first-syllable stress items, but only for externally generated stimuli. We further observed an effect of syllable stress on the P2, where first-syllable stress items elicited a larger P2. Strikingly, we did not observe motor-induced suppression for self-triggered stimuli for either the N1 or P2 component, likely due to the temporal predictability of the stimulus onset in both conditions. Taking into account previous findings, the current results suggest that sensitivity to syllable stress regularities depends on task demands.

    Additional information

    Supporting Information
  • Enard, W., Gehre, S., Hammerschmidt, K., Hölter, S. M., Blass, T., Somel, M., Brückner, M. K., Schreiweis, C., Winter, C., Sohr, R., Becker, L., Wiebe, V., Nickel, B., Giger, T., Müller, U., Groszer, M., Adler, T., Aguilar, A., Bolle, I., Calzada-Wack, J. and 36 moreEnard, W., Gehre, S., Hammerschmidt, K., Hölter, S. M., Blass, T., Somel, M., Brückner, M. K., Schreiweis, C., Winter, C., Sohr, R., Becker, L., Wiebe, V., Nickel, B., Giger, T., Müller, U., Groszer, M., Adler, T., Aguilar, A., Bolle, I., Calzada-Wack, J., Dalke, C., Ehrhardt, N., Favor, J., Fuchs, H., Gailus-Durner, V., Hans, W., Hölzlwimmer, G., Javaheri, A., Kalaydjiev, S., Kallnik, M., Kling, E., Kunder, S., Moßbrugger, I., Naton, B., Racz, I., Rathkolb, B., Rozman, J., Schrewe, A., Busch, D. H., Graw, J., Ivandic, B., Klingenspor, M., Klopstock, T., Ollert, M., Quintanilla-Martinez, L., Schulz, H., Wolf, E., Wurst, W., Zimmer, A., Fisher, S. E., Morgenstern, R., Arendt, T., Hrabé de Angelis, M., Fischer, J., Schwarz, J., & Pääbo, S. (2009). A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice. Cell, 137(5), 961-971. doi:10.1016/j.cell.2009.03.041.

    Abstract

    It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene of mice. Although these mice are generally healthy, they have qualitatively different ultrasonic vocalizations, decreased exploratory behavior and decreased dopamine concentrations in the brain suggesting that the humanized Foxp2 allele affects basal ganglia. In the striatum, a part of the basal ganglia affected in humans with a speech deficit due to a nonfunctional FOXP2 allele, we find that medium spiny neurons have increased dendrite lengths and increased synaptic plasticity. Since mice carrying one nonfunctional Foxp2 allele show opposite effects, this suggests that alterations in cortico-basal ganglia circuits might have been important for the evolution of speech and language in humans.
  • Enfield, N. J. (2009). Common tragedy [Review of the book The native mind and the cultural construction of nature by Scott Atran Douglas Medin]. The Times Literary Supplement, September 18,2009, 10-11.
  • Enfield, N. J. (2009). [Review of the book Serial verb constructions: A cross-linguistic typology ed. by Alexandra Y. Aikhenvald and R. M. W. Dixon]. Language, 85, 445-451. doi:10.1353/lan.0.0124.
  • Enfield, N. J. (2009). Language: Social motives for syntax [Review of the book Origins of human communication by Michael Tomasello]. Science, 324(5923), 39. doi:10.1126/science.1172660.
  • Enfield, N. J. (1999). On the indispensability of semantics: Defining the ‘vacuous’. Rask: internationalt tidsskrift for sprog og kommunikation, 9/10, 285-304.
  • Enfield, N. J., & Diffloth, G. (2009). Phonology and sketch grammar of Kri, a Vietic language of Laos. Cahiers de Linguistique - Asie Orientale (CLAO), 38(1), 3-69.
  • Enfield, N. J. (2009). Relationship thinking and human pragmatics. Journal of Pragmatics, 41, 60-78. doi:10.1016/j.pragma.2008.09.007.

    Abstract

    The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.
  • Enfield, N. J. (1997). Review of 'Give: a cognitive linguistic study', by John Newman. Australian Journal of Linguistics, 17(1), 89-92. doi:10.1080/07268609708599546.
  • Enfield, N. J. (1997). Review of 'Plastic glasses and church fathers: semantic extension from the ethnoscience tradition', by David Kronenfeld. Anthropological Linguistics, 39(3), 459-464. Retrieved from http://www.jstor.org/stable/30028999.
  • 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. (2009). How Many Languages? Linguists Discover New Tongues in China. Science, 324(5925), 332-333. doi:10.1126/science.324.5925.332a.
  • Erard, M. (2016). Solving Australia's language puzzle. Science, 353(6306), 1357-1359. doi:10.1126/science.353.6306.1357.
  • Erard, M. (2017). Write yourself invisible. New Scientist, 236(3153), 36-39.
  • Ernestus, M., Dikmans, M., & Giezenaar, G. (2017). Advanced second language learners experience difficulties processing reduced word pronunciation variants. Dutch Journal of Applied Linguistics, 6(1), 1-20. doi:10.1075/dujal.6.1.01ern.

    Abstract

    Words are often pronounced with fewer segments in casual conversations than in formal speech. Previous research has shown that foreign language learners and beginning second language learners experience problems processing reduced speech. We examined whether this also holds for advanced second language learners. We designed a dictation task in Dutch consisting of sentences spliced from casual conversations and an unreduced counterpart of this task, with the same sentences carefully articulated by the same speaker. Advanced second language learners of Dutch produced substantially more transcription errors for the reduced than for the unreduced sentences. These errors made the sentences incomprehensible or led to non-intended meanings. The learners often did not rely on the semantic and syntactic information in the sentence or on the subsegmental cues to overcome the reductions. Hence, advanced second language learners also appear to suffer from the reduced pronunciation variants of words that are abundant in everyday conversations
  • 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.
  • Ernestus, M., Kouwenhoven, H., & Van Mulken, M. (2017). The direct and indirect effects of the phonotactic constraints in the listener's native language on the comprehension of reduced and unreduced word pronunciation variants in a foreign language. Journal of Phonetics, 62, 50-64. doi:10.1016/j.wocn.2017.02.003.

    Abstract

    This study investigates how the comprehension of casual speech in foreign languages is affected by the phonotactic constraints in the listener’s native language. Non-native listeners of English with different native languages heard short English phrases produced by native speakers of English or Spanish and they indicated whether these phrases included can or can’t. Native Mandarin listeners especially tended to interpret can’t as can. We interpret this result as a direct effect of the ban on word-final /nt/ in Mandarin. Both the native Mandarin and the native Spanish listeners did not take full advantage of the subsegmental information in the speech signal cueing reduced can’t. This finding is probably an indirect effect of the phonotactic constraints in their native languages: these listeners have difficulties interpreting the subsegmental cues because these cues do not occur or have different functions in their native languages. Dutch resembles English in the phonotactic constraints relevant to the comprehension of can’t, and native Dutch listeners showed similar patterns in their comprehension of native and non-native English to native English listeners. This result supports our conclusion that the major patterns in the comprehension results are driven by the phonotactic constraints in the listeners’ native languages.
  • Eryilmaz, K., & Little, H. (2017). Using Leap Motion to investigate the emergence of structure in speech and language. Behavior Research Methods, 49(5), 1748-1768. doi:10.3758/s13428-016-0818-x.

    Abstract

    In evolutionary linguistics, experiments using artificial signal spaces are being used to investigate the emergence of speech structure. These signal spaces need to be continuous, non-discretised spaces from which discrete units and patterns can emerge. They need to be dissimilar from - but comparable with - the vocal-tract, in order to minimise interference from pre-existing linguistic knowledge, while informing us about language. This is a hard balance to strike. This article outlines a new approach which uses the Leap Motion, an infra-red controller which can convert manual movement in 3d space into sound. The signal space using this approach is more flexible than signal spaces in previous attempts. Further, output data using this approach is simpler to arrange and analyse. The experimental interface was built using free, and mostly open source libraries in Python. We provide our source code for other researchers as open source.
  • Esteve-Gibert, N., Prieto, P., & Liszkowski, U. (2017). Twelve-month-olds understand social intentions based on prosody and gesture shape. Infancy, 22, 108-129. doi:10.1111/infa.12146.

    Abstract

    Infants infer social and pragmatic intentions underlying attention-directing gestures, but the basis on which infants make these inferences is not well understood. Previous studies suggest that infants rely on information from preceding shared action contexts and joint perceptual scenes. Here, we tested whether 12-month-olds use information from act-accompanying cues, in particular prosody and hand shape, to guide their pragmatic understanding. In Experiment 1, caregivers directed infants’ attention to an object to request it, share interest in it, or inform them about a hidden aspect. Caregivers used distinct prosodic and gestural patterns to express each pragmatic intention. Experiment 2 was identical except that experimenters provided identical lexical information across conditions and used three sets of trained prosodic and gestural patterns. In all conditions, the joint perceptual scenes and preceding shared action contexts were identical. In both experiments, infants reacted appropriately to the adults’ intentions by attending to the object mostly in the sharing interest condition, offering the object mostly in the imperative condition, and searching for the referent mostly in the informing condition. Infants’ ability to comprehend pragmatic intentions based on prosody and gesture shape expands infants’ communicative understanding from common activities to novel situations for which shared background knowledge is missing.
  • 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., & Levinson, S. C. (2009). The myth of language universals: Language diversity and its importance for cognitive science. Behavioral and Brain Sciences, 32(5), 429-492. doi:10.1017/S0140525X0999094X.

    Abstract

    Talk of linguistic universals has given cognitive scientists the impression that languages are all built to a common pattern. In fact, there are vanishingly few universals of language in the direct sense that all languages exhibit them. Instead, diversity can be found at almost every level of linguistic organization. This fundamentally changes the object of enquiry from a cognitive science perspective. This target article summarizes decades of cross-linguistic work by typologists and descriptive linguists, showing just how few and unprofound the universal characteristics of language are, once we honestly confront the diversity offered to us by the world's 6,000 to 8,000 languages. After surveying the various uses of “universal,” we illustrate the ways languages vary radically in sound, meaning, and syntactic organization, and then we examine in more detail the core grammatical machinery of recursion, constituency, and grammatical relations. Although there are significant recurrent patterns in organization, these are better explained as stable engineering solutions satisfying multiple design constraints, reflecting both cultural-historical factors and the constraints of human cognition.
  • Evans, N., & Levinson, S. C. (2009). With diversity in mind: Freeing the language sciences from universal grammar [Author's response]. Behavioral and Brain Sciences, 32(5), 472-484. doi:10.1017/S0140525X09990525.

    Abstract

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

    Abstract

    Daniel Everett has spent his career in the Amazon, challenging some fundamental ideas about language and thought. Asifa Majid and Jon Sutton pose the questions
  • Everett, C., Blasi, D. E., & Roberts, S. G. (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
  • Eysenck, M. W., & Van Berkum, J. J. A. (1992). Trait anxiety, defensiveness, and the structure of worry. Personality and Individual Differences, 13(12), 1285-1290. Retrieved from http://www.sciencedirect.com/science//journal/01918869.

    Abstract

    A principal components analysis of the ten scales of the Worry Questionnaire revealed the existence of major worry factors or domains of social evaluation and physical threat, and these factors were confirmed in a subsequent item analysis. Those high in trait anxiety had much higher scores on the Worry Questionnaire than those low in trait anxiety, especially on those scales relating to social evaluation. Scores on the Marlowe-Crowne Social Desirability Scale were negatively related to worry frequency. However, groups of low-anxious and repressed individucores did not differ in worry. It was concluded that worry, especals formed on the basis of their trait anxiety and social desirability sially in the social evaluation domain, is of fundamental importance to trait anxiety.
  • 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
  • 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.
  • Fedorenko, E., Patel, A., Casasanto, D., Winawer, J., & Gibson, E. (2009). Structural integration in language and music: Evidence for a shared system. Memory & Cognition, 37, 1-9. doi:10.3758/MC.37.1.1.

    Abstract

    In this study, we investigate whether language and music share cognitive resources for structural processing. We report an experiment that used sung materials and manipulated linguistic complexity (subject-extracted relative clauses, object-extracted relative clauses) and musical complexity (in-key critical note, out-of-key critical note, auditory anomaly on the critical note involving a loudness increase). The auditory-anomaly manipulation was included in order to test whether the difference between in-key and out-of-key conditions might be due to any salient, unexpected acoustic event. The critical dependent measure involved comprehension accuracies to questions about the propositional content of the sentences asked at the end of each trial. The results revealed an interaction between linguistic and musical complexity such that the difference between the subject- and object-extracted relative clause conditions was larger in the out-of-key condition than in the in-key and auditory-anomaly conditions. These results provide evidence for an overlap in structural processing between language and music.
  • Lu, A. T., Fei, Z., Haghani, A., Robeck, T. R., Zoller, J. A., Li, C. Z., Lowe, R., Yan, Q., Zhang, J., Vu, H., Ablaeva, J., Acosta-Rodriguez, V. A., Adams, D. M., Almunia, J., Aloysius, A., Ardehali, R., Arneson, A., Baker, C. S., Banks, G., Belov, K. and 168 moreLu, A. T., Fei, Z., Haghani, A., Robeck, T. R., Zoller, J. A., Li, C. Z., Lowe, R., Yan, Q., Zhang, J., Vu, H., Ablaeva, J., Acosta-Rodriguez, V. A., Adams, D. M., Almunia, J., Aloysius, A., Ardehali, R., Arneson, A., Baker, C. S., Banks, G., Belov, K., Bennett, N. C., Black, P., Blumstein, D. T., Bors, E. K., Breeze, C. E., Brooke, R. T., Brown, J. L., Carter, G. G., Caulton, A., Cavin, J. M., Chakrabarti, L., Chatzistamou, I., Chen, H., Cheng, K., Chiavellini, P., Choi, O. W., Clarke, S. M., Cooper, L. N., Cossette, M. L., Day, J., DeYoung, J., DiRocco, S., Dold, C., Ehmke, E. E., Emmons, C. K., Emmrich, S., Erbay, E., Erlacher-Reid, C., Faulkes, C. G., Ferguson, S. H., Finno, C. J., Flower, J. E., Gaillard, J. M., Garde, E., Gerber, L., Gladyshev, V. N., Gorbunova, V., Goya, R. G., Grant, M. J., Green, C. B., Hales, E. N., Hanson, M. B., Hart, D. W., Haulena, M., Herrick, K., Hogan, A. N., Hogg, C. J., Hore, T. A., Huang, T., Izpisua Belmonte, J. C., Jasinska, A. J., Jones, G., Jourdain, E., Kashpur, O., Katcher, H., Katsumata, E., Kaza, V., Kiaris, H., Kobor, M. S., Kordowitzki, P., Koski, W. R., Krützen, M., Kwon, S. B., Larison, B., Lee, S. G., Lehmann, M., Lemaitre, J. F., Levine, A. J., Li, C., Li, X., Lim, A. R., Lin, D. T. S., Lindemann, D. M., Little, T. J., Macoretta, N., Maddox, D., Matkin, C. O., Mattison, J. A., McClure, M., Mergl, J., Meudt, J. J., Montano, G. A., Mozhui, K., Munshi-South, J., Naderi, A., Nagy, M., Narayan, P., Nathanielsz, P. W., Nguyen, N. B., Niehrs, C., O’Brien, J. K., O’Tierney Ginn, P., Odom, D. T., Ophir, A. G., Osborn, S., Ostrander, E. A., Parsons, K. M., Paul, K. C., Pellegrini, M., Peters, K. J., Pedersen, A. B., Petersen, J. L., Pietersen, D. W., Pinho, G. M., Plassais, J., Poganik, J. R., Prado, N. A., Reddy, P., Rey, B., Ritz, B. R., Robbins, J., Rodriguez, M., Russell, J., Rydkina, E., Sailer, L. L., Salmon, A. B., Sanghavi, A., Schachtschneider, K. M., Schmitt, D., Schmitt, T., Schomacher, L., Schook, L. B., Sears, K. E., Seifert, A. W., Seluanov, A., Shafer, A. B. A., Shanmuganayagam, D., Shindyapina, A. V., Simmons, M., Singh, K., Sinha, I., Slone, J., Snell, R. G., Soltanmaohammadi, E., Spangler, M. L., Spriggs, M. C., Staggs, L., Stedman, N., Steinman, K. J., Stewart, D. T., Sugrue, V. J., Szladovits, B., Takahashi, J. S., Takasugi, M., Teeling, E. C., Thompson, M. J., Van Bonn, B., Vernes, S. C., Villar, D., Vinters, H. V., Wallingford, M. C., Wang, N., Wayne, R. K., Wilkinson, G. S., Williams, C. K., Williams, R. W., Yang, X. W., Yao, M., Young, B. G., Zhang, B., Zhang, Z., Zhao, P., Zhao, Y., Zhou, W., Zimmermann, J., Ernst, J., Raj, K., & Horvath, S. (2023). Universal DNA methylation age across mammalian tissues. Nature aging, 3, 1144-1166. doi:10.1038/s43587-023-00462-6.

    Abstract

    Aging, often considered a result of random cellular damage, can be accurately estimated using DNA methylation profiles, the foundation of pan-tissue epigenetic clocks. Here, we demonstrate the development of universal pan-mammalian clocks, using 11,754 methylation arrays from our Mammalian Methylation Consortium, which encompass 59 tissue types across 185 mammalian species. These predictive models estimate mammalian tissue age with high accuracy (r > 0.96). Age deviations correlate with human mortality risk, mouse somatotropic axis mutations and caloric restriction. We identified specific cytosines with methylation levels that change with age across numerous species. These sites, highly enriched in polycomb repressive complex 2-binding locations, are near genes implicated in mammalian development, cancer, obesity and longevity. Our findings offer new evidence suggesting that aging is evolutionarily conserved and intertwined with developmental processes across all mammals.
  • Ferreira, F., & Huettig, F. (2023). Fast and slow language processing: A window into dual-process models of cognition. [Open Peer commentary on De Neys]. Behavioral and Brain Sciences, 46: e121. doi:10.1017/S0140525X22003041.

    Abstract

    Our understanding of dual-process models of cognition may benefit from a consideration of language processing, as language comprehension involves fast and slow processes analogous to those used for reasoning. More specifically, De Neys's criticisms of the exclusivity assumption and the fast-to-slow switch mechanism are consistent with findings from the literature on the construction and revision of linguistic interpretations.
  • 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., Congdon, J. V., Hoang, J., Bowling, D. L., Reber, S. A., Pasukonis, A., Hoeschele, M., Ocklenburg, S., De Boer, B., Sturdy, C. B., Newen, A., & Güntürkün, O. (2017). Humans recognize emotional arousal in vocalizations across all classes of terrestrial vertebrates: Evidence for acoustic universals. Proceedings of the Royal Society B: Biological Sciences, 284: 20170990. doi:10.1098/rspb.2017.0990.

    Abstract

    Writing over a century ago, Darwin hypothesized that vocal expression of emotion dates back to our earliest terrestrial ancestors. If this hypothesis is true, we should expect to find cross-species acoustic universals in emotional vocalizations. Studies suggest that acoustic attributes of aroused vocalizations are shared across many mammalian species, and that humans can use these attributes to infer emotional content. But do these acoustic attributes extend to non-mammalian vertebrates? In this study, we asked human participants to judge the emotional content of vocalizations of nine vertebrate species representing three different biological classes—Amphibia, Reptilia (non-aves and aves) and Mammalia. We found that humans are able to identify higher levels of arousal in vocalizations across all species. This result was consistent across different language groups (English, German and Mandarin native speakers), suggesting that this ability is biologically rooted in humans. Our findings indicate that humans use multiple acoustic parameters to infer relative arousal in vocalizations for each species, but mainly rely on fundamental frequency and spectral centre of gravity to identify higher arousal vocalizations across species. These results suggest that fundamental mechanisms of vocal emotional expression are shared among vertebrates and could represent a homologous signalling system.
  • Filippi, P., Gogoleva, S. S., Volodina, E. V., Volodin, I. A., & De Boer, B. (2017). Humans identify negative (but not positive) arousal in silver fox vocalizations: Implications for the adaptive value of interspecific eavesdropping. Current Zoology, 63(4), 445-456. doi:10.1093/cz/zox035.

    Abstract

    The ability to identify emotional arousal in heterospecific vocalizations may facilitate behaviors that increase survival opportunities. Crucially, this ability may orient inter-species interactions, particularly between humans and other species. Research shows that humans identify emotional arousal in vocalizations across multiple species, such as cats, dogs, and piglets. However, no previous study has addressed humans' ability to identify emotional arousal in silver foxes. Here, we adopted low-and high-arousal calls emitted by three strains of silver fox-Tame, Aggressive, and Unselected-in response to human approach. Tame and Aggressive foxes are genetically selected for friendly and attacking behaviors toward humans, respectively. Unselected foxes show aggressive and fearful behaviors toward humans. These three strains show similar levels of emotional arousal, but different levels of emotional valence in relation to humans. This emotional information is reflected in the acoustic features of the calls. Our data suggest that humans can identify high-arousal calls of Aggressive and Unselected foxes, but not of Tame foxes. Further analyses revealed that, although within each strain different acoustic parameters affect human accuracy in identifying high-arousal calls, spectral center of gravity, harmonic-to-noise ratio, and F0 best predict humans' ability to discriminate high-arousal calls across all strains. Furthermore, we identified in spectral center of gravity and F0 the best predictors for humans' absolute ratings of arousal in each call. Implications for research on the adaptive value of inter-specific eavesdropping are discussed.

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  • Filippi, P., Ocklenburg, S., Bowling, D. L., Heege, L., Güntürkün, O., Newen, A., & de Boer, B. (2017). More than words (and faces): evidence for a Stroop effect of prosody in emotion word processing. Cognition & Emotion, 31(5), 879-891. doi:10.1080/02699931.2016.1177489.

    Abstract

    Humans typically combine linguistic and nonlinguistic information to comprehend emotions. We adopted an emotion identification Stroop task to investigate how different channels interact in emotion communication. In experiment 1, synonyms of “happy” and “sad” were spoken with happy and sad prosody. Participants had more difficulty ignoring prosody than ignoring verbal content. In experiment 2, synonyms of “happy” and “sad” were spoken with happy and sad prosody, while happy or sad faces were displayed. Accuracy was lower when two channels expressed an emotion that was incongruent with the channel participants had to focus on, compared with the cross-channel congruence condition. When participants were required to focus on verbal content, accuracy was significantly lower also when prosody was incongruent with verbal content and face. This suggests that prosody biases emotional verbal content processing, even when conflicting with verbal content and face simultaneously. Implications for multimodal communication and language evolution studies are discussed.
  • 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., Laaha, S., & Fitch, W. T. (2017). Utterance-final position and pitch marking aid word learning in school-age children. Royal Society Open Science, 4: 161035. doi:10.1098/rsos.161035.

    Abstract

    We investigated the effects of word order and prosody on word learning in school-age children. Third graders viewed photographs belonging to one of three semantic categories while hearing four-word nonsense utterances containing a target word. In the control condition, all words had the same pitch and, across trials, the position of the target word was varied systematically within each utterance. The only cue to word–meaning mapping was the co-occurrence of target words and referents. This cue was present in all conditions. In the Utterance-final condition, the target word always occurred in utterance-final position, and at the same fundamental frequency as all the other words of the utterance. In the Pitch peak condition, the position of the target word was varied systematically within each utterance across trials, and produced with pitch contrasts typical of infant-directed speech (IDS). In the Pitch peak + Utterance-final condition, the target word always occurred in utterance-final position, and was marked with a pitch contrast typical of IDS. Word learning occurred in all conditions except the control condition. Moreover, learning performance was significantly higher than that observed with simple co-occurrence (control condition) only for the Pitch peak + Utterance-final condition. We conclude that, for school-age children, the combination of words' utterance-final alignment and pitch enhancement boosts word learning.
  • 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., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language [Review article]. Trends in Genetics, 25, 166-177. doi:10.1016/j.tig.2009.03.002.

    Abstract

    Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expression in different vertebrates facilitates the use of animal models to study ancestral pathways that have been recruited towards human speech and language. Intriguingly, reduced FoxP2 dosage yields abnormal synaptic plasticity and impaired motor-skill learning in mice, and disrupts vocal learning in songbirds. Converging data indicate that Foxp2 is important for modulating the plasticity of relevant neural circuits. This body of research represents the first functional genetic forays into neural mechanisms contributing to human spoken language.
  • Fisher, S. E. (2017). Evolution of language: Lessons from the genome. Psychonomic Bulletin & Review, 24(1), 34-40. doi: 10.3758/s13423-016-1112-8.

    Abstract

    The post-genomic era is an exciting time for researchers interested in the biology of speech and language. Substantive advances in molecular methodologies have opened up entire vistas of investigation that were not previously possible, or in some cases even imagined. Speculations concerning the origins of human cognitive traits are being transformed into empirically addressable questions, generating specific hypotheses that can be explicitly tested using data collected from both the natural world and experimental settings. In this article, I discuss a number of promising lines of research in this area. For example, the field has begun to identify genes implicated in speech and language skills, including not just disorders but also the normal range of abilities. Such genes provide powerful entry points for gaining insights into neural bases and evolutionary origins, using sophisticated experimental tools from molecular neuroscience and developmental neurobiology. At the same time, sequencing of ancient hominin genomes is giving us an unprecedented view of the molecular genetic changes that have occurred during the evolution of our species. Synthesis of data from these complementary sources offers an opportunity to robustly evaluate alternative accounts of language evolution. Of course, this endeavour remains challenging on many fronts, as I also highlight in the article. Nonetheless, such an integrated approach holds great potential for untangling the complexities of the capacities that make us human.
  • Fisher, S. E., Ciccodicola, A., Tanaka, K., Curci, A., Desicato, S., D'urso, M., & Craig, I. W. (1997). Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. Genomics, 45, 340-347. doi:10.1006/geno.1997.4941.

    Abstract

    The human Xp11.23-p11.22 interval has been implicated in several inherited diseases including Wiskott-Aldrich syndrome; three forms of X-linked hypercalciuric nephrolithiaisis; and the eye disorders retinitis pigmentosa 2, congenital stationary night blindness, and Aland Island eye disease. In constructing YAC contigs spanning Xp11. 23-p11.22, we have previously shown that the region around the synaptophysin (SYP) gene is refractory to cloning in YACs, but highly stable in cosmids. Preliminary analysis of the latter suggested that this might reflect a high density of coding sequences and we therefore undertook the complete sequencing of a SYP-containing cosmid. Sequence data were extensively analyzed using computer programs such as CENSOR (to mask repeats), BLAST (for homology searches), and GRAIL and GENE-ID (to predict exons). This revealed the presence of 29 putative exons, organized into three genes, in addition to the 7 exons of the complete SYP coding region, all mapping within a 44-kb interval. Two genes are novel, one (CACNA1F) showing high homology to alpha1 subunits of calcium channels, the other (LMO6) encoding a product with significant similarity to LIM-domain proteins. RT-PCR and Northern blot studies confirmed that these loci are indeed transcribed. The third locus is the previously described, but not previously localized, A4 differentiation-dependent gene. Given that the intron-exon boundaries predicted by the analysis are consistent with previous information where available, we have been able to suggest the genomic organization of the novel genes with some confidence. The region has an elevated GC content (>53%), and we identified CpG islands associated with the 5' ends of SYP, A4, and LMO6. The order of loci was Xpter-A4-LMO6-SYP-CACNA1F-Xcen, with intergenic distances ranging from approximately 300 bp to approximately 5 kb. The density of transcribed sequences in this area (>80%) is comparable to that found in the highly gene-rich chromosomal band Xq28. Further studies may aid our understanding of the long-range organization surrounding such gene-enriched regions.
  • Fisher, V. J. (2017). Unfurling the wings of flight: Clarifying ‘the what’ and ‘the why’ of mental imagery use in dance. Research in Dance Education, 18(3), 252-272. doi:10.1080/14647893.2017.1369508.

    Abstract

    This article provides clarification regarding ‘the what’ and ‘the why’ of mental imagery use in dance. It proposes that mental images are invoked across sensory modalities and often combine internal and external perspectives. The content of images ranges from ‘direct’ body oriented simulations along a continuum employing analogous mapping through ‘semi-direct’ literal similarities to abstract metaphors. The reasons for employing imagery are diverse and often overlapping, affecting physical, affective (psychological) and cognitive domains. This paper argues that when dance uses imagery, it is mapping aspects of the world to the body via analogy. Such mapping informs and changes our understanding of both our bodies and the world. In this way, mental imagery use in dance is fundamentally a process of embodied cognition
  • Fitz, H., & Chang, F. (2017). Meaningful questions: The acquisition of auxiliary inversion in a connectionist model of sentence production. Cognition, 166, 225-250. doi:10.1016/j.cognition.2017.05.008.

    Abstract

    Nativist theories have argued that language involves syntactic principles which are unlearnable from the input children receive. A paradigm case of these innate principles is the structure dependence of auxiliary inversion in complex polar questions (Chomsky, 1968, 1975, 1980). Computational approaches have focused on the properties of the input in explaining how children acquire these questions. In contrast, we argue that messages are structured in a way that supports structure dependence in syntax. We demonstrate this approach within a connectionist model of sentence production (Chang, 2009) which learned to generate a range of complex polar questions from a structured message without positive exemplars in the input. The model also generated different types of error in development that were similar in magnitude to those in children (e.g., auxiliary doubling, Ambridge, Rowland, & Pine, 2008; Crain & Nakayama, 1987). Through model comparisons we trace how meaning constraints and linguistic experience interact during the acquisition of auxiliary inversion. Our results suggest that auxiliary inversion rules in English can be acquired without innate syntactic principles, as long as it is assumed that speakers who ask complex questions express messages that are structured into multiple propositions
  • 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.
  • Fiveash, A., Ferreri, L., Bouwer, F. L., Kösem, A., Moghimi, S., Ravignani, A., Keller, P. E., & Tillmann, B. (2023). Can rhythm-mediated reward boost learning, memory, and social connection? Perspectives for future research. Neuroscience and Biobehavioral Reviews, 149: 105153. doi:10.1016/j.neubiorev.2023.105153.

    Abstract

    Studies of rhythm processing and of reward have progressed separately, with little connection between the two. However, consistent links between rhythm and reward are beginning to surface, with research suggesting that synchronization to rhythm is rewarding, and that this rewarding element may in turn also boost this synchronization. The current mini review shows that the combined study of rhythm and reward can be beneficial to better understand their independent and combined roles across two central aspects of cognition: 1) learning and memory, and 2) social connection and interpersonal synchronization; which have so far been studied largely independently. From this basis, it is discussed how connections between rhythm and reward can be applied to learning and memory and social connection across different populations, taking into account individual differences, clinical populations, human development, and animal research. Future research will need to consider the rewarding nature of rhythm, and that rhythm can in turn boost reward, potentially enhancing other cognitive and social processes.
  • 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., 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.
  • Francisco, A. A., Groen, M. A., Jesse, A., & McQueen, J. M. (2017). Beyond the usual cognitive suspects: The importance of speechreading and audiovisual temporal sensitivity in reading ability. Learning and Individual Differences, 54, 60-72. doi:10.1016/j.lindif.2017.01.003.

    Abstract

    The aim of this study was to clarify whether audiovisual processing accounted for variance in reading and reading-related abilities, beyond the effect of a set of measures typically associated with individual differences in both reading and audiovisual processing. Testing adults with and without a diagnosis of dyslexia, we showed that—across all participants, and after accounting for variance in cognitive abilities—audiovisual temporal sensitivity contributed uniquely to variance in reading errors. This is consistent with previous studies demonstrating an audiovisual deficit in dyslexia. Additionally, we showed that speechreading (identification of speech based on visual cues from the talking face alone) was a unique contributor to variance in phonological awareness in dyslexic readers only: those who scored higher on speechreading, scored lower on phonological awareness. This suggests a greater reliance on visual speech as a compensatory mechanism when processing auditory speech is problematic. A secondary aim of this study was to better understand the nature of dyslexia. The finding that a sub-group of dyslexic readers scored low on phonological awareness and high on speechreading is consistent with a hybrid perspective of dyslexia: There are multiple possible pathways to reading impairment, which may translate into multiple profiles of dyslexia.
  • Francisco, A. A., Jesse, A., Groen, M. A., & McQueen, J. M. (2017). A general audiovisual temporal processing deficit in adult readers with dyslexia. Journal of Speech, Language, and Hearing Research, 60, 144-158. doi:10.1044/2016_JSLHR-H-15-0375.

    Abstract

    Purpose: Because reading is an audiovisual process, reading impairment may reflect an audiovisual processing deficit. The aim of the present study was to test the existence and scope of such a deficit in adult readers with dyslexia. Method: We tested 39 typical readers and 51 adult readers with dyslexia on their sensitivity to the simultaneity of audiovisual speech and nonspeech stimuli, their time window of audiovisual integration for speech (using incongruent /aCa/ syllables), and their audiovisual perception of phonetic categories. Results: Adult readers with dyslexia showed less sensitivity to audiovisual simultaneity than typical readers for both speech and nonspeech events. We found no differences between readers with dyslexia and typical readers in the temporal window of integration for audiovisual speech or in the audiovisual perception of phonetic categories. Conclusions: The results suggest an audiovisual temporal deficit in dyslexia that is not specific to speech-related events. But the differences found for audiovisual temporal sensitivity did not translate into a deficit in audiovisual speech perception. Hence, there seems to be a hiatus between simultaneity judgment and perception, suggesting a multisensory system that uses different mechanisms across tasks. Alternatively, it is possible that the audiovisual deficit in dyslexia is only observable when explicit judgments about audiovisual simultaneity are required
  • Francks, C., Fisher, S. E., J.Marlow, A., J.Richardson, A., Stein, J. F., & Monaco, A. (2000). A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability. Prostaglandins, Leukotrienes and Essential Fatty Acids, 63(1-2), 27-31. doi:10.1054/plef.2000.0187.

    Abstract

    Family and twin studies consistently demonstrate a significant role for genetic factors in the aetiology of the reading disorder dyslexia. However, dyslexia is complex at both the genetic and phenotypic levels, and currently the nature of the core deficit or deficits remains uncertain. Traditional approaches for mapping disease genes, originally developed for single-gene disorders, have limited success when there is not a simple relationship between genotype and phenotype. Recent advances in high-throughput genotyping technology and quantitative statistical methods have made a new approach to identifying genes involved in complex disorders possible. The method involves assessing the genetic similarity of many sibling pairs along the lengths of all their chromosomes and attempting to correlate this similarity with that of their phenotypic scores. We are adopting this approach in an ongoing genome-wide search for genes involved in dyslexia susceptibility, and have already successfully applied the method by replicating results from previous studies suggesting that a quantitative trait locus at 6p21.3 influences reading disability.
  • Francks, C. (2009). Understanding the genetics of behavioural and psychiatric traits will only be achieved through a realistic assessment of their complexity. Laterality: Asymmetries of Body, Brain and Cognition, 14(1), 11-16. doi:10.1080/13576500802536439.

    Abstract

    Francks et al. (2007) performed a recent study in which the first putative genetic effect on human handedness was identified (the imprinted locus LRRTM1 on human chromosome 2). In this issue of Laterality, Tim Crow and colleagues present a critique of that study. The present paper presents a personal response to that critique which argues that Francks et al. (2007) published a substantial body of evidence implicating LRRTM1 in handedness and schizophrenia. Progress will now be achieved by others trying to validate, refute, or extend those findings, rather than by further armchair discussion.
  • Frank, M. C., Bergelson, E., Bergmann, C., Cristia, A., Floccia, C., Gervain, J., Hamlin, J. K., Hannon, E. E., Kline, M., Levelt, C., Lew-Williams, C., Nazzi, T., Panneton, R., Rabagliati, H., Soderstrom, M., Sullivan, J., Waxman, S., & Yurovsky, D. (2017). A collaborative approach to infant research: Promoting reproducibility, best practices, and theory-building. Infancy, 22(4), 421-435. doi:10.1111/infa.12182.

    Abstract

    The ideal of scientific progress is that we accumulate measurements and integrate these into theory, but recent discussion of replicability issues has cast doubt on whether psychological research conforms to this model. Developmental research—especially with infant participants—also has discipline-specific replicability challenges, including small samples and limited measurement methods. Inspired by collaborative replication efforts in cognitive and social psychology, we describe a proposal for assessing and promoting replicability in infancy research: large-scale, multi-laboratory replication efforts aiming for a more precise understanding of key developmental phenomena. The ManyBabies project, our instantiation of this proposal, will not only help us estimate how robust and replicable these phenomena are, but also gain new theoretical insights into how they vary across ages, linguistic communities, and measurement methods. This project has the potential for a variety of positive outcomes, including less-biased estimates of theoretically important effects, estimates of variability that can be used for later study planning, and a series of best-practices blueprints for future infancy research.

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