Publications

Displaying 201 - 300 of 1276
  • Deriziotis, P., & Fisher, S. E. (2013). Neurogenomics of speech and language disorders: The road ahead. Genome Biology, 14: 204. doi:10.1186/gb-2013-14-4-204.

    Abstract

    Next-generation sequencing is set to transform the discovery of genes underlying neurodevelopmental disorders, and so off er important insights into the biological bases of spoken language. Success will depend on functional assessments in neuronal cell lines, animal models and humans themselves.
  • Deriziotis, P., & Fisher, S. E. (2017). Speech and Language: Translating the Genome. Trends in Genetics, 33(9), 642-656. doi:10.1016/j.tig.2017.07.002.

    Abstract

    Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.
  • Devaraju, K., Miskinyte, G., Hansen, M. G., Monni, E., Tornero, D., Woods, N. B., Bengzon, J., Ahlenius, H., Lindvall, O., & Kokaia, Z. (2017). Direct conversion of human fibroblasts to functional excitatory cortical neurons integrating into human neural networks. Stem Cell Research & Therapy, 8: 207. doi:10.1186/s13287-017-0658-3.

    Abstract

    Background: Human fibroblasts can be directly converted to several subtypes of neurons, but cortical projection neurons have not been generated. Methods: Here we screened for transcription factor combinations that could potentially convert human fibroblasts to functional excitatory cortical neurons. The induced cortical (iCtx) cells were analyzed for cortical neuronal identity using immunocytochemistry, single-cell quantitative polymerase chain reaction (qPCR), electrophysiology, and their ability to integrate into human neural networks in vitro and ex vivo using electrophysiology and rabies virus tracing. Results: We show that a combination of three ranscription fact ors, BRN2, MYT1L, and FEZF2, have the ability to directly convert human fibroblasts to functional excitatory cortical neurons. The conversion efficiency was increased to about 16% by treatment with small molecules and microRNAs. The iCtx cells exhibited electrophysiological properties of functional neurons, had pyramidal-like cell morphology, and expressed key cortical projection neuronal markers. Single-cell analysis of iCtx cells revealed a complex gene expression profile, a subpopulation of them displaying a molecular signature closely resembling that of human fetal primary cortical neurons. The iCtx cells received synaptic inputs from co-cultured human fetal primary cortical neurons, contained spines, and expressed the postsyna ptic excitatory scaffold protein PSD95. When transplanted ex vivo to organotypic cultures of adult human cerebral cortex, the iCtx cells exhibited morphological and electrophysiological properties of mature neurons, integrated structurally into the cortical tissue, and received synaptic inputs from adult human neurons. Conclusions: Our findings indicate that functional excitatory cortical neurons, generated here for the first time by direct conversion of human somatic cells, have the capacity for synaptic integration into adult human cortex.
  • Devaraju, K., Barnabé-Heider, F., Kokaia, Z., & Lindvall, O. (2013). FoxJ1-expressing cells contribute to neurogenesis in forebrain of adult rats: Evidence from in vivo electroporation combined with piggyBac transposon. ScienceDirect, 319(18), 2790-2800. doi:10.1016/j.yexcr.2013.08.028.

    Abstract

    Ependymal cells in the lateral ventricular wall are considered to be post-mitotic but can give rise to neuroblasts and astrocytes after stroke in adult mice due to insult-induced suppression of Notch signaling. The transcription factor FoxJ1, which has been used to characterize mouse ependymal cells, is also expressed by a subset of astrocytes. Cells expressing FoxJ1, which drives the expression of motile cilia, contribute to early postnatal neurogenesis in mouse olfactory bulb. The distribution and progeny of FoxJ1-expressing cells in rat forebrain are unknown. Here we show using immunohistochemistry that the overall majority of FoxJ1-expressing cells in the lateral ventricular wall of adult rats are ependymal cells with a minor population being astrocytes. To allow for long-term fate mapping of FoxJ1-derived cells, we used the piggyBac system for in vivo gene transfer with electroporation. Using this method, we found that FoxJ1-expressing cells, presumably the astrocytes, give rise to neuroblasts and mature neurons in the olfactory bulb both in intact and stroke-damaged brain of adult rats. No significant contribution of FoxJ1-derived cells to stroke-induced striatal neurogenesis was detected. These data indicate that in the adult rat brain, FoxJ1-expressing cells contribute to the formation of new neurons in the olfactory bulb but are not involved in the cellular repair after stroke.
  • Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P. and 3 moreDias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P., Hurles, M. E., DDD Study, Fisher, S. E., & Logan, D. W. (2016). BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. The American Journal of Human Genetics, 99(2), 253-274. doi:10.1016/j.ajhg.2016.05.030.

    Abstract

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

    Abstract

    People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan
  • Dietrich, C., Swingley, D., & Werker, J. F. (2007). Native language governs interpretation of salient speech sound differences at 18 months. Proceedings of the National Academy of Sciences of the USA, 104(41), 16027-16031.

    Abstract

    One of the first steps infants take in learning their native language is to discover its set of speech-sound categories. This early development is shown when infants begin to lose the ability to differentiate some of the speech sounds their language does not use, while retaining or improving discrimination of language-relevant sounds. However, this aspect of early phonological tuning is not sufficient for language learning. Children must also discover which of the phonetic cues that are used in their language serve to signal lexical distinctions. Phonetic variation that is readily discriminable to all children may indicate two different words in one language but only one word in another. Here, we provide evidence that the language background of 1.5-year-olds affects their interpretation of phonetic variation in word learning, and we show that young children interpret salient phonetic variation in language-specific ways. Three experiments with a total of 104 children compared Dutch- and English-learning 18-month-olds' responses to novel words varying in vowel duration or vowel quality. Dutch learners interpreted vowel duration as lexically contrastive, but English learners did not, in keeping with properties of Dutch and English. Both groups performed equivalently when differentiating words varying in vowel quality. Thus, at one and a half years, children's phonological knowledge already guides their interpretation of salient phonetic variation. We argue that early phonological learning is not just a matter of maintaining the ability to distinguish language-relevant phonetic cues. Learning also requires phonological interpretation at appropriate levels of linguistic analysis.
  • 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., & Klein, W. (2007). Den Erwachsenen überlegen: Kinder entwickeln beim Sprachenlernen besondere Techniken und sind erfolgreicher als ältere Menschen. Tagesspiegel, 19737, B6-B6.

    Abstract

    The younger - the better? This paper discusses second language learning at different ages and takes a critical look at generalizations of the kind ‘The younger – the better’. It is argued that these generalizations do not apply across the board. Age related differences like the amount of linguistic knowledge, prior experience as a language user, or more or less advanced communicative needs affect different components of the language system to different degrees, and can even be an advantage for the early development of simple communicative systems.
  • 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.
  • 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.

    Additional information

    Open data & R code
  • 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. (2013). Ideophones and gesture in everyday speech. Gesture, 13, 143-165. doi:10.1075/gest.13.2.02din.

    Abstract

    This article examines the relation between ideophones and gestures in a corpus of everyday discourse in Siwu, a richly ideophonic language spoken in Ghana. The overall frequency of ideophone-gesture couplings in everyday speech is lower than previously suggested, but two findings shed new light on the relation between ideophones and gesture. First, discourse type makes a difference: ideophone-gesture couplings are more frequent in narrative contexts, a finding that explains earlier claims, which were based not on everyday language use but on elicited narratives. Second, there is a particularly strong coupling between ideophones and one type of gesture: iconic gestures. This coupling allows us to better understand iconicity in relation to the affordances of meaning and modality. Ultimately, the connection between ideophones and iconic gestures is explained by reference to the depictive nature of both. Ideophone and iconic gesture are two aspects of the process of depiction
  • Dingemanse, M., Torreira, F., & Enfield, N. J. (2013). Is “Huh?” a universal word? Conversational infrastructure and the convergent evolution of linguistic items. PLoS One, 8(11): e78273. doi:10.1371/journal.pone.0078273.

    Abstract

    A word like Huh?–used as a repair initiator when, for example, one has not clearly heard what someone just said– is found in roughly the same form and function in spoken languages across the globe. We investigate it in naturally occurring conversations in ten languages and present evidence and arguments for two distinct claims: that Huh? is universal, and that it is a word. In support of the first, we show that the similarities in form and function of this interjection across languages are much greater than expected by chance. In support of the second claim we show that it is a lexical, conventionalised form that has to be learnt, unlike grunts or emotional cries. We discuss possible reasons for the cross-linguistic similarity and propose an account in terms of convergent evolution. Huh? is a universal word not because it is innate but because it is shaped by selective pressures in an interactional environment that all languages share: that of other-initiated repair. Our proposal enhances evolutionary models of language change by suggesting that conversational infrastructure can drive the convergent cultural evolution of linguistic items.
  • 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.
  • Dolscheid, S., Shayan, S., Majid, A., & Casasanto, D. (2013). The thickness of musical pitch: Psychophysical evidence for linguistic relativity. Psychological Science, 24, 613-621. doi:10.1177/0956797612457374.

    Abstract

    Do people who speak different languages think differently, even when they are not using language? To find out, we used nonlinguistic psychophysical tasks to compare mental representations of musical pitch in native speakers of Dutch and Farsi. Dutch speakers describe pitches as high (hoog) or low (laag), whereas Farsi speakers describe pitches as thin (na-zok) or thick (koloft). Differences in language were reflected in differences in performance on two pitch-reproduction tasks, even though the tasks used simple, nonlinguistic stimuli and responses. To test whether experience using language influences mental representations of pitch, we trained native Dutch speakers to describe pitch in terms of thickness, as Farsi speakers do. After the training, Dutch speakers’ performance on a nonlinguistic psychophysical task resembled the performance of native Farsi speakers. People who use different linguistic space-pitch metaphors also think about pitch differently. Language can play a causal role in shaping nonlinguistic representations of musical pitch.

    Additional information

    DS_10.1177_0956797612457374.pdf
  • Drenth, P., Levelt, W. J. M., & Noort, E. (2013). Rejoinder to commentary on the Stapel-fraud report. The Psychologist, 26(2), 81.

    Abstract

    The Levelt, Noort and Drenth Committees make their sole and final rejoinder to criticisms of their report on the Stapel fraud
  • 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.
  • 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. (2007). Acceptable ungrammaticality in sentence matching. Second Language Research, 23(2), 155-177. doi:10.1177/0267658307076544.

    Abstract

    This paper presents results from a new set of experiments using the sentence matching paradigm (Forster, Kenneth (1979), Freedman & Forster (1985), also Bley-Vroman & Masterson (1989), investigating native-speakers’ and L2 learners’ knowledge of constraints on clitic placement in French.1 Our purpose is three-fold: (i) to shed more light on the contrasts between native-speakers and L2 learners observed in previous experiments, especially Duffield & White (1999), and Duffield, White, Bruhn de Garavito, Montrul & Prévost (2002); (ii), to address specific criticisms of the sentence-matching paradigm leveled by Gass (2001); (iii), to provide a firm empirical basis for follow-up experiments with L2 learners
  • 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.
  • Dunn, M. (2003). Pioneers of Island Melanesia project. Oceania Newsletter, 30/31, 1-3.
  • Dunn, M., Foley, R., Levinson, S. C., Reesink, G., & Terrill, A. (2007). Statistical reasoning in the evaluation of typological diversity in Island Melanesia. Oceanic Linguistics, 46(2), 388-403.

    Abstract

    This paper builds on a previous work in which we attempted to retrieve a phylogenetic signal using abstract structural features alone, as opposed to cognate sets, drawn from a sample of Island Melanesian languages, both Oceanic (Austronesian) and (non-Austronesian) Papuan (Science 2005[309]: 2072-75 ). Here we clarify a number of misunderstandings of this approach, referring particularly to the critique by Mark Donohue and Simon Musgrave (in this same issue of Oceanic Linguistics), in which they fail to appreciate the statistical principles underlying computational phylogenetic methods. We also present new analyses that provide stronger evidence supporting the hypotheses put forward in our original paper: a reanalysis using Bayesian phylogenetic inference demonstrates the robustness of the data and methods, and provides a substantial improvement over the parsimony method used in our earlier paper. We further demonstrate, using the technique of spatial autocorrelation, that neither proximity nor Oceanic contact can be a major determinant of the pattern of structural variation of the Papuan languages, and thus that the phylogenetic relatedness of the Papuan languages remains a serious hypothesis.
  • 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., Margetts, A., Meira, S., & Terrill, A. (2007). Four languages from the lower end of the typology of locative predication. Linguistics, 45, 873-892. doi:10.1515/LING.2007.026.

    Abstract

    As proposed by Ameka and Levinson (this issue) locative verb systems can be classified into four types according to the number of verbs distinguished. This article addresses the lower extreme of this typology: languages which offer no choice of verb in the basic locative function (BLF). These languages have either a single locative verb, or do not use verbs at all in the basic locative construction (BLC, the construction used to encode the BLF). A close analysis is presented of the behavior of BLF predicate types in four genetically diverse languages: Chukchi (Chukotko-Kamchatkan, Russian Arctic), and Lavukaleve (Papuan isolate, Solomon Islands), which have BLC with the normal copula/existential verb for the language; Tiriyó (Cariban/Taranoan, Brazil), which has an optional copula in the BLC; and Saliba (Austronesian/Western Oceanic, Papua New Guinea), a language with a verbless clause as the BLC. The status of these languages in the typology of positional verb systems is reviewed, and other relevant typological generalizations are discussed
  • Dunn, M., & Ross, M. (2007). Is Kazukuru really non-Austronesian? Oceanic Linguistics, 46(1), 210-231. doi:10.1353/ol.2007.0018.

    Abstract

    Kazukuru is an extinct language, originally spoken in the inland of the western part of the island of New Georgia, Solomon Islands, and attested by very limited historical sources. Kazukuru has generally been considered to be a Papuan, that is, non-Austronesian, language, mostly on the basis of its lexicon. Reevaluation of the available data suggests a high likelihood that Kazukuru was in fact an Oceanic Austronesian language. Pronominal paradigms are clearly of Austronesian origin, and many other aspects of language structured retrievable from the limited data are also congruent with regional Oceanic Austronesian typology. The extent and possible causes of Kazukuru lexical deviations from the Austronesian norm are evaluated and discussed.
  • Dunn, M., Kruspe, N., & Burenhult, N. (2013). Time and place in the prehistory of the Aslian languages. Human Biology, 85, 383-399.

    Abstract

    The Aslian branch of Austroasiatic is recognised as the oldest recoverable language family in the Malay Peninsula, predating the now dominant Austronesian languages present today. In this paper we address the dynamics of the prehistoric spread of Aslian languages across the peninsula, including the languages spoken by Semang foragers, traditionally associated with the 'Negrito' phenotype. The received view of an early and uniform tripartite break-up of proto-Aslian in the Early Neolithic period, and subsequent differentiation driven by societal modes is challenged. We present a Bayesian phylogeographic analysis of our dataset of vocabulary from 28 Aslian varieties. An explicit geographic model of diffusion is combined with a cognate birth-word death model of lexical evolution to infer the location of the major events of Aslian cladogenesis. The resultant phylogenetic trees are calibrated against dates in the historical and archaeological record to extrapolate a detailed picture of Aslian language history. We conclude that a binary split between Southern Aslian and the rest of Aslian took place in the Early Neolithic (4000 BP). This was followed much later in the Late Neolithic (2000-3000 BP) by a tripartite branching into Central Aslian, Jah Hut and Northern Aslian. Subsequent internal divisions within these sub-clades took place in the Early Metal Phase (post-2000 BP). Significantly, a split in Northern Aslian between Ceq Wong and the languages of the Semang was a late development and is proposed here to coincide with the adoption of Aslian by the Semang foragers. Given the difficulties involved in associating archaeologically recorded activities with linguistic events, as well as the lack of historical sources, our results remain preliminary. However, they provide sufficient evidence to prompt a rethinking of previous models of both clado- and ethno-genesis within the Malay Peninsula.
  • 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.
  • Eicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R. and 11 moreEicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R., Bartsch, H., Kuperman, J. M., Brown, T. T., Hagler, D. J., Dale, A. M., Jernigan, T. L., St Pourcain, B., Davey Smith, G., Ring, S. M., Gruen, J. R., & Pediatric Imaging, Neurocognition, and Genetics Study (2013). Genome-wide association study of shared components of reading disability and language impairment. Genes, Brain and Behavior, 12(8), 792-801. doi:10.1111/gbb.12085.

    Abstract

    Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.
  • 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., A Datson, N., van den Maagdenberg, A. M., & Ferrari, M. D. (2013). Epigenetic mechanisms in migraine: a promising avenue? BMC Medicine, 11(1): 26. doi:10.1186/1741-7015-11-26.

    Abstract

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

    Abstract

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

    Abstract

    The perception of speech sounds can be re-tuned rapidly through a mechanism of lexically-driven learning (Norris et al 2003, Cogn.Psych. 47). Here we investigated this type of learning for English voiced stop consonants which are commonly de-voiced in word final position by Dutch learners of English . Specifically, this study asked under which conditions the change in pre-lexical representation encodes phonological information about the position of the critical sound within a word. After exposure to a Dutch learner’s productions of de-voiced stops in word-final position (but not in any other positions), British English listeners showed evidence of perceptual learning in a subsequent cross-modal priming task, where auditory primes with voiceless final stops (e.g., ‘seat’), facilitated recognition of visual targets with voiced final stops (e.g., SEED). This learning generalized to test pairs where the critical contrast was in word-initial position, e.g. auditory primes such as ‘town’ facilitated recognition of visual targets like DOWN (Experiment 1). Control listeners, who had not heard any stops by the speaker during exposure, showed no learning effects. The generalization to word-initial position did not occur when participants had also heard correctly voiced, word-initial stops during exposure (Experiment 2), and when the speaker was a native BE speaker who mimicked the word-final devoicing (Experiment 3). These results suggest that word position can be encoded in the pre-lexical adjustment to the accented phoneme contrast. Lexcially-guided feedback, distributional properties of the input, and long-term representations of accents all appear to modulate the pre-lexical re-tuning of phoneme categories.
  • 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., Kita, S., & De Ruiter, J. P. (2007). Primary and secondary pragmatic functions of pointing gestures. Journal of Pragmatics, 39(10), 1722-1741. doi:10.1016/j.pragma.2007.03.001.

    Abstract

    This article presents a study of a set of pointing gestures produced together with speech in a corpus of video-recorded “locality description” interviews in rural Laos. In a restricted set of the observed gestures (we did not consider gestures with special hand shapes, gestures with arc/tracing motion, or gestures directed at referents within physical reach), two basic formal types of pointing gesture are observed: B-points (large movement, full arm, eye gaze often aligned) and S-points (small movement, hand only, casual articulation). Taking the approach that speech and gesture are structurally integrated in composite utterances, we observe that these types of pointing gesture have distinct pragmatic functions at the utterance level. One type of gesture (usually “big” in form) carries primary, informationally foregrounded information (for saying “where” or “which one”). Infants perform this type of gesture long before they can talk. The second type of gesture (usually “small” in form) carries secondary, informationally backgrounded information which responds to a possible but uncertain lack of referential common ground. We propose that the packaging of the extra locational information into a casual gesture is a way of adding extra information to an utterance without it being on-record that the added information was necessary. This is motivated by the conflict between two general imperatives of communication in social interaction: a social-affiliational imperative not to provide more information than necessary (“Don’t over-tell”), and an informational imperative not to provide less information than necessary (“Don’t under-tell”).
  • Enfield, N. J. (2003). Producing and editing diagrams using co-speech gesture: Spatializing non-spatial relations in explanations of kinship in Laos. Journal of Linguistic Anthropology, 13(1), 7-50. doi:10.1525/jlin.2003.13.1.7.

    Abstract

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

    Abstract

    Words such as what -d'you-call-it raise issues at the heart of the semantics/pragmatics interface. Expressions of this kind are conventionalised and have meanings which, while very general, are explicitly oriented to the interactional nature of the speech context, drawing attention to a speaker's assumption that the listener can figure out what the speaker is referring to. The details of such meanings can account for functional contrast among similar expressions, in a single language as well as cross-linguistically. The English expressions what -d'you-call-it and you-know-what are compared, along with a comparable Lao expression meaning, roughly, ‘that thing’. Proposed definitions of the meanings of these expressions account for their different patterns of use. These definitions include reference to the speech act participants, a point which supports the view that what -d'you-call-it words can be considered deictic. Issues arising from the descriptive section of this paper include the question of how such terms are derived, as well as their degree of conventionality.
  • Enfield, N. J. (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. (2007). Encoding three-participant events in the Lao clause. Linguistics, 45(3), 509-538. doi:10.1515/LING.2007.016.

    Abstract

    Any language will have a range of predicates that specify three core participants (e.g. 'put', 'show', 'give'), and will conventionally provide a range of constructional types for the expression of these three participants in a structured single-clause or single-sentence event description. This article examines the clausal encoding of three-participant events in Lao, a Tai language of Southeast Asia. There is no possibility in Lao for expression of three full arguments in the core of a single-verb clause (although it is possible to have a third argument in a noncore slot, marked as oblique with a prepositionlike element). Available alternatives include extraposing an argument using a topic-comment construction, incorporating an argument into the verb phrase, and ellipsing one or more contextually retrievable arguments. A more common strategy is verb serialization, for example, where a threeplace verb (e.g. 'put') is assisted by an additional verb (typically a verb of handling such as 'carry') that provides a slot for the theme argument (e.g. the transferred object in a putting scene). The event construal encoded by this type of structure decomposes the event into a first stage in which the agent comes into control over a theme, and a second in which the agent performs a controlled action (e.g. of transfer) with respect to that theme and a goal (and/or source). The particular set of strategies that Lao offers for encoding three-participant events — notably, topic-comment strategy, ellipsis strategy, serial verb strategy — conform with (and are presumably motivated by) the general typological profile of the language. The typological features of Lao are typical for the mainland Southeast Asia area (isolating, topic-prominent, verb-serializing, widespread nominal ellipsis).
  • Enfield, N. J. (2003). Demonstratives in space and interaction: Data from Lao speakers and implications for semantic analysis. Language, 79(1), 82-117.

    Abstract

    The semantics of simple (i.e. two-term) systems of demonstratives have in general hitherto been treated as inherently spatial and as marking a symmetrical opposition of distance (‘proximal’ versus ‘distal’), assuming the speaker as a point of origin. More complex systems are known to add further distinctions, such as visibility or elevation, but are assumed to build on basic distinctions of distance. Despite their inherently context-dependent nature, little previous work has based the analysis of demonstratives on evidence of their use in real interactional situations. In this article, video recordings of spontaneous interaction among speakers of Lao (Southwestern Tai, Laos) are examined in an analysis of the two Lao demonstrative determiners nii4 and nan4. A hypothesis of minimal encoded semantics is tested against rich contextual information, and the hypothesis is shown to be consistent with the data. Encoded conventional meanings must be kept distinct from contingent contextual information and context-dependent pragmatic implicatures. Based on examples of the two Lao demonstrative determiners in exophoric uses, the following claims are made. The term nii4 is a semantically general demonstrative, lacking specification of ANY spatial property (such as location or distance). The term nan4 specifies that the referent is ‘not here’ (encoding ‘location’ but NOT ‘distance’). Anchoring the semantic specification in a deictic primitive ‘here’ allows a strictly discrete intensional distinction to be mapped onto an extensional range of endless elasticity. A common ‘proximal’ spatial interpretation for the semantically more general term nii4 arises from the paradigmatic opposition of the two demonstrative determiners. This kind of analysis suggests a reappraisal of our general understanding of the semantics of demonstrative systems universally. To investigate the question in sufficient detail, however, rich contextual data (preferably collected on video) is necessary
  • Enfield, N. J. (2007). [Comment on 'Agency' by Paul Kockelman]. Current Anthropology, 48(3), 392-392. doi:10.1086/512998.
  • Enfield, N. J. (2007). [review of the book Ethnopragmatics: Understanding discourse in cultural context ed. by Cliff Goddard]. Intercultural Pragmatics, 4(3), 419-433. doi:10.1515/IP.2007.021.
  • Enfield, N. J. (2007). Lao separation verbs and the logic of linguistic event categorization. Cognitive Linguistics, 18(2), 287-296. doi:10.1515/COG.2007.016.

    Abstract

    While there are infinite conceivable events of material separation, those actually encoded in the conventions of a given language's verb semantics number only a few. Furthermore, there appear to be crosslinguistic parallels in the native verbal analysis of this conceptual domain. What are the operative distinctions, and why these? This article analyses a key subset of the bivalent (transitive) verbs of cutting and breaking in Lao. I present a decompositional analysis of the verbs glossed 'cut (off)', 'cut.into.with.placed.blade', 'cut.into.with.moving.blade', and 'snap', pursuing the idea that the attested combinations of sub-events have a natural logic to them. Consideration of the nature of linguistic categories, as distinct from categories in general, suggests that the attested distinctions must have ethnographic and social interactional significance, raising new lines of research for cognitive semantics.
  • Enfield, N. J. (2013). Language, culture, and mind: Trends and standards in the latest pendulum swing. Journal of the Royal Anthropological Institute, 19, 155-169. doi:10.1111/1467-9655.12008.

    Abstract

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

    Abstract

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

    Abstract

    Listeners show a remarkable ability to quickly adjust to degraded speech input. Here, we aimed to identify the neural mechanisms of such short-term perceptual adaptation. In a sparse-sampling, cardiac-gated functional magnetic resonance imaging (fMRI) acquisition, human listeners heard and repeated back 4-band-vocoded sentences (in which the temporal envelope of the acoustic signal is preserved, while spectral information is highly degraded). Clear-speech trials were included as baseline. An additional fMRI experiment on amplitude modulation rate discrimination quantified the convergence of neural mechanisms that subserve coping with challenging listening conditions for speech and non-speech. First, the degraded speech task revealed an “executive” network (comprising the anterior insula and anterior cingulate cortex), parts of which were also activated in the non-speech discrimination task. Second, trial-by-trial fluctuations in successful comprehension of degraded speech drove hemodynamic signal change in classic “language” areas (bilateral temporal cortices). Third, as listeners perceptually adapted to degraded speech, downregulation in a cortico-striato-thalamo-cortical circuit was observable. The present data highlight differential upregulation and downregulation in auditory–language and executive networks, respectively, with important subcortical contributions when successfully adapting to a challenging listening situation.
  • Ernestus, M., & Baayen, R. H. (2003). Predicting the unpredictable: The phonological interpretation of neutralized segments in Dutch. Language, 79(1), 5-38.

    Abstract

    Among the most fascinating data for phonology are those showing how speakers incorporate new words and foreign words into their language system, since these data provide cues to the actual principles underlying language. In this article, we address how speakers deal with neutralized obstruents in new words. We formulate four hypotheses and test them on the basis of Dutch word-final obstruents, which are neutral for [voice]. Our experiments show that speakers predict the characteristics ofneutralized segments on the basis ofphonologically similar morphemes stored in the mental lexicon. This effect of the similar morphemes can be modeled in several ways. We compare five models, among them STOCHASTIC OPTIMALITY THEORY and ANALOGICAL MODELING OF LANGUAGE; all perform approximately equally well, but they differ in their complexity, with analogical modeling oflanguage providing the most economical explanation.
  • Ernestus, M., Van Mulken, M., & Baayen, R. H. (2007). Ridders en heiligen in tijd en ruimte: Moderne stylometrische technieken toegepast op Oud-Franse teksten. Taal en Tongval, 58, 1-83.

    Abstract

    This article shows that Old-French literary texts differ systematically in their relative frequencies of syntactic constructions. These frequencies reflect differences in register (poetry versus prose), region (Picardy, Champagne, and Esatern France), time period (until 1250, 1251 – 1300, 1301 – 1350), and genre (hagiography, romance of chivalry, or other).
  • Ernestus, M., & Baayen, R. H. (2007). Paradigmatic effects in auditory word recognition: The case of alternating voice in Dutch. Language and Cognitive Processes, 22(1), 1-24. doi:10.1080/01690960500268303.

    Abstract

    Two lexical decision experiments addressed the role of paradigmatic effects in auditory word recognition. Experiment 1 showed that listeners classified a form with an incorrectly voiced final obstruent more readily as a word if the obstruent is realised as voiced in other forms of that word's morphological paradigm. Moreover, if such was the case, the exact probability of paradigmatic voicing emerged as a significant predictor of the response latencies. A greater probability of voicing correlated with longer response latencies for words correctly realised with voiceless final obstruents. A similar effect of this probability was observed in Experiment 2 for words with completely voiceless or weakly voiced (incompletely neutralised) final obstruents. These data demonstrate the relevance of paradigmatically related complex words for the processing of morphologically simple words in auditory word recognition.
  • 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.
  • Escudero, P., Broersma, M., & Simon, E. (2013). Learning words in a third language: Effects of vowel inventory and language proficiency. Language and Cognitive Processes, 28, 746-761. doi:10.1080/01690965.2012.662279.

    Abstract

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

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  • Essegbey, J., & Ameka, F. K. (2007). "Cut" and "break" verbs in Gbe and Sranan. Journal of Pidgin and Creole Languages, 22(1), 37-55. doi:10.1075/jpcl.22.1.04ess.

    Abstract

    This paper compares “cut” and “break” verbs in four variants of Gbe, namely Anfoe, Anlo, Fon and Ayizo, with those of Sranan. “Cut” verbs are change-of-state verbs that co-lexicalize the type of action that brings about a change, the type of instrument or instrument part, and the manner in which a change occurs. By contrast, break verbs co-lexicalize either the type of object or the type of change. It has been hypothesized that “cut”-verbs are unergative while breaks verbs are unaccusatives. For example “break” verbs participate in the causative alternation constructions but “cut” verbs don’t. We show that although there are some differences in the meanings of “cut” and break verbs across the Gbe languages, significant generalizations can be made with regard to their lexicalization patterns. By contrast, the meanings of “cut” and break verbs in Sranan are closer to those of their etymons in English and Dutch. However, despite the differences in the meanings of “cut” and “break” verbs between the Gbe languages and Sranan, the syntax of the verbs in Sranan is similar to that of the Eastern Gbe variants, namely Fon and Ayizo. We look at the implications of our findings for the relexification hypothesis. (copyright Benjamins)
  • 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.

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

    Abstract

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

    Abstract

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

    Abstract

    Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we performed a population-based genome-wide association study of 'age at first tooth' and 'number of teeth' using 5998 and 6609 individuals, respectively, from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2 446 724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of 15 independent loci, with 10 loci reaching genome-wide significance (P < 5 × 10(-8)) for 'age at first tooth' and 11 loci for 'number of teeth'. Together, these associations explain 6.06% of the variation in 'age of first tooth' and 4.76% of the variation in 'number of teeth'. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including an SNP in the protein-coding region of BMP4 (rs17563, P = 9.080 × 10(-17)). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development.
  • 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.
  • Felser, C., & Roberts, L. (2007). Processing wh-dependencies in a second language: A cross-modal priming study. Second Language Research, 23(1), 9-36. doi:10.1177/0267658307071600.

    Abstract

    This study investigates the real-time processing of wh-dependencies by advanced Greek-speaking learners of English using a cross-modal picture priming task. Participants were asked to respond to different types of picture target presented either at structurally defined gap positions, or at pre-gap control positions, while listening to sentences containing indirect-object relative clauses. Our results indicate that the learners processed the experimental sentences differently from both adult native speakers of English and monolingual English-speaking children. Contrary to what has been found for native speakers, the learners' response pattern was not influenced by individual working memory differences. Adult second language learners differed from native speakers with a relatively high reading or listening span in that they did not show any evidence of structurally based antecedent reactivation at the point of the indirect object gap. They also differed from low-span native speakers, however, in that they showed evidence of maintained antecedent activation during the processing of the experimental sentences. Whereas the localized priming effect observed in the high-span controls is indicative of trace-based antecedent reactivation in native sentence processing, the results from the Greek-speaking learners support the hypothesis that the mental representations built during non-native language processing lack abstract linguistic structure such as movement traces.
  • Felser, C., Roberts, L., Marinis, T., & Gross, R. (2003). The processing of ambiguous sentences by first and second language learners of English. Applied Psycholinguistics, 24(3), 453-489.

    Abstract

    This study investigates the way adult second language (L2) learners of English resolve relative clause attachment ambiguities in sentences such as The dean liked the secretary of the professor who was reading a letter. Two groups of advanced L2 learners of English with Greek or German as their first language participated in a set of off-line and on-line tasks. The results indicate that the L2 learners do not process ambiguous sentences of this type in the same way as adult native speakers of English do. Although the learners’ disambiguation preferences were influenced by lexical–semantic properties of the preposition linking the two potential antecedent noun phrases (of vs. with), there was no evidence that they applied any phrase structure–based ambiguity resolution strategies of the kind that have been claimed to influence sentence processing in monolingual adults. The L2 learners’ performance also differs markedly from the results obtained from 6- to 7-year-old monolingual English children in a parallel auditory study, in that the children’s attachment preferences were not affected by the type of preposition at all. We argue that children, monolingual adults, and adult L2 learners differ in the extent to which they are guided by phrase structure and lexical–semantic information during sentence processing.
  • 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. (2013). Connessioni regolate: la chiave ontologica alle specie-specificità? Epekeina, 2(1), 203-223. doi:10.7408/epkn.epkn.v2i1.41.

    Abstract

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

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