Publications

Displaying 301 - 400 of 1314
  • Enfield, N. J. (2013). Doing fieldwork on the body, language, and communication. In C. Müller, E. Fricke, S. Ladewig, A. Cienki, D. McNeill, & S. Teßendorf (Eds.), Handbook Body – Language – Communication. Volume 1 (pp. 974-981). Berlin: Mouton de Gruyter.
  • Enfield, N. J. (2013). A ‘Composite Utterances’ approach to meaning. In C. Müller, E. Fricke, S. Ladewig, A. Cienki, D. McNeill, & S. Teßendorf (Eds.), Handbook Body – Language – Communication. Volume 1 (pp. 689-706). Berlin: Mouton de Gruyter.
  • 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. (2007). A grammar of Lao. Berlin: Mouton de Gruyter.

    Abstract

    Lao is the national language of Laos, and is also spoken widely in Thailand and Cambodia. It is a tone language of the Tai-Kadai family (Southwestern Tai branch). Lao is an extreme example of the isolating, analytic language type. This book is the most comprehensive grammatical description of Lao to date. It describes and analyses the important structures of the language, including classifiers, sentence-final particles, and serial verb constructions. Special attention is paid to grammatical topics from a semantic, pragmatic, and typological perspective.
  • 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). Meanings of the unmarked: How 'default' person reference does more than just refer. In N. Enfield, & T. Stivers (Eds.), Person reference in interaction: Linguistic, cultural, and social perspectives (pp. 97-120). Cambridge: Cambridge University Press.
  • 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., Dingemanse, M., Baranova, J., Blythe, J., Brown, P., Dirksmeyer, T., Drew, P., Floyd, S., Gipper, S., Gisladottir, R. S., Hoymann, G., Kendrick, K. H., Levinson, S. C., Magyari, L., Manrique, E., Rossi, G., San Roque, L., & Torreira, F. (2013). Huh? What? – A first survey in 21 languages. In M. Hayashi, G. Raymond, & J. Sidnell (Eds.), Conversational repair and human understanding (pp. 343-380). New York: Cambridge University Press.

    Abstract

    Introduction

    A comparison of conversation in twenty-one languages from around the world reveals commonalities and differences in the way that people do open-class other-initiation of repair (Schegloff, Jefferson, and Sacks, 1977; Drew, 1997). We find that speakers of all of the spoken languages in the sample make use of a primary interjection strategy (in English it is Huh?), where the phonetic form of the interjection is strikingly similar across the languages: a monosyllable featuring an open non-back vowel [a, æ, ə, ʌ], often nasalized, usually with rising intonation and sometimes an [h-] onset. We also find that most of the languages have another strategy for open-class other-initiation of repair, namely the use of a question word (usually “what”). Here we find significantly more variation across the languages. The phonetic form of the question word involved is completely different from language to language: e.g., English [wɑt] versus Cha'palaa [ti] versus Duna [aki]. Furthermore, the grammatical structure in which the repair-initiating question word can or must be expressed varies within and across languages. In this chapter we present data on these two strategies – primary interjections like Huh? and question words like What? – with discussion of possible reasons for the similarities and differences across the languages. We explore some implications for the notion of repair as a system, in the context of research on the typology of language use.

    The general outline of this chapter is as follows. We first discuss repair as a system across languages and then introduce the focus of the chapter: open-class other-initiation of repair. A discussion of the main findings follows, where we identify two alternative strategies in the data: an interjection strategy (Huh?) and a question word strategy (What?). Formal features and possible motivations are discussed for the interjection strategy and the question word strategy in order. A final section discusses bodily behavior including posture, eyebrow movements and eye gaze, both in spoken languages and in a sign language.
  • Enfield, N. J. (2013). Language, culture, and mind: Trends and standards in the latest pendulum swing. Journal of the Royal Anthropological Institute, 19, 155-169. doi:10.1111/1467-9655.12008.

    Abstract

    The study of language in relation to anthropological questions has deep and varied roots, from Humboldt and Boas, Malinowski and Vygotsky, Sapir and Whorf, Wittgenstein and Austin, through to the linguistic anthropologists of now. A recent book by the linguist Daniel Everett, language: the cultural tool (2012), aims to bring some of the issues to a popular audience, with a focus on the idea that language is a tool for social action. I argue in this essay that the book does not represent the state of the art in this field, falling short on three central desiderata of a good account for the social functions of language and its relation to culture. I frame these desiderata in terms of three questions, here termed the cognition question, the causality question, and the culture question. I look at the relevance of this work for socio-cultural anthropology, in the context of a major interdisciplinary pendulum swing that is incipient in the study of language today, a swing away from formalist, innatist perspectives, and towards functionalist, empiricist perspectives. The role of human diversity and culture is foregrounded in all of this work. To that extent, Everett’s book is representative, but the quality of his argument is neither strong in itself nor representative of a movement that ought to be of special interest to socio-cultural anthropologists.
  • Enfield, N. J. (2013). Hippie, interrupted. In J. Barker, & J. Lindquist (Eds.), Figures of Southeast Asian modernity (pp. 101-103). Honolulu: University of Hawaii Press.
  • Enfield, N. J. (2013). Reference in conversation. In J. Sidnell, & T. Stivers (Eds.), The handbook of conversation analysis (pp. 433-454). Malden, MA: Wiley-Blackwell. doi:10.1002/9781118325001.ch21.

    Abstract

    This chapter contains sections titled: Introduction Lexical Selection in Reference: Introductory Examples of Reference to Times Multiple “Preferences” Future Directions Conclusion
  • Enfield, N. J. (2013). Rejoinder to Daniel Everett [Comment]. Journal of the Royal Anthropological Institute, 19(3), 649. doi:10.1111/1467-9655.12056.
  • Enfield, N. J. (2013). Relationship thinking: Agency, enchrony, and human sociality. New York: Oxford University Press.
  • Enfield, N. J. (2007). Repair sequences in interaction. In A. Majid (Ed.), Field Manual Volume 10 (pp. 100-103). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.468724.

    Abstract

    This sub-project is concerned with analysis and cross-linguistic comparison of the mechanisms of signaling and redressing ‘trouble’ during conversation. Speakers and listeners constantly face difficulties with many different aspects of speech production and comprehension during conversation. A speaker may mispronounce a word, or may be unable to find a word, or be unable to formulate in words an idea he or she has in mind. A listener may have troubling hearing (part of) what was said, may not know who a speaker is referring to, may not be sure of the current relevance of what is being said. There may be problems in the organisation of turns at talk, for instance, two speakers’ speech may be in overlap. The goal of this task is to investigate the range of practices that a language uses to address problems of speaking, hearing and understanding in conversation.
  • 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. (2016). Solving Australia's language puzzle. Science, 353(6306), 1357-1359. doi:10.1126/science.353.6306.1357.
  • 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., 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., & Baayen, R. H. (2007). The comprehension of acoustically reduced morphologically complex words: The roles of deletion, duration, and frequency of occurence. In J. Trouvain, & W. J. Barry (Eds.), Proceedings of the 16th International Congress of Phonetic Sciences (ICPhs 2007) (pp. 773-776). Dudweiler: Pirrot.

    Abstract

    This study addresses the roles of segment deletion, durational reduction, and frequency of use in the comprehension of morphologically complex words. We report two auditory lexical decision experiments with reduced and unreduced prefixed Dutch words. We found that segment deletions as such delayed comprehension. Simultaneously, however, longer durations of the different parts of the words appeared to increase lexical competition, either from the word’s stem (Experiment 1) or from the word’s morphological continuation forms (Experiment 2). Increased lexical competition slowed down especially the comprehension of low frequency words, which shows that speakers do not try to meet listeners’ needs when they reduce especially high frequency words.
  • Ernestus, M., & Baayen, R. H. (2007). Intraparadigmatic effects on the perception of voice. In J. van de Weijer, & E. J. van der Torre (Eds.), Voicing in Dutch: (De)voicing-phonology, phonetics, and psycholinguistics (pp. 153-173). Amsterdam: Benjamins.

    Abstract

    In Dutch, all morpheme-final obstruents are voiceless in word-final position. As a consequence, the distinction between obstruents that are voiced before vowel-initial suffixes and those that are always voiceless is neutralized. This study adds to the existing evidence that the neutralization is incomplete: neutralized, alternating plosives tend to have shorter bursts than non-alternating plosives. Furthermore, in a rating study, listeners scored the alternating plosives as more voiced than the nonalternating plosives, showing sensitivity to the subtle subphonemic cues in the acoustic signal. Importantly, the participants who were presented with the complete words, instead of just the final rhymes, scored the alternating plosives as even more voiced. This shows that listeners’ perception of voice is affected by their knowledge of the obstruent’s realization in the word’s morphological paradigm. Apparently, subphonemic paradigmatic levelling is a characteristic of both production and perception. We explain the effects within an analogy-based approach.
  • 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. (2016). L'utilisation des corpus oraux pour la recherche en (psycho)linguistique. In M. Kilani-Schoch, C. Surcouf, & A. Xanthos (Eds.), Nouvelles technologies et standards méthodologiques en linguistique (pp. 65-93). Lausanne: Université de Lausanne.
  • Ernestus, M. (2013). Halve woorden [Inaugural lecture]. Nijmegen: Radboud University.

    Abstract

    Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Psycholinguïstiek aan de Faculteit der Letteren van de Radboud Universiteit Nijmegen op vrijdag 18 januari 2013
  • Eryilmaz, K., Little, H., & De Boer, B. (2016). Using HMMs To Attribute Structure To Artificial Languages. In S. G. Roberts, C. Cuskley, L. McCrohon, L. Barceló-Coblijn, O. Feher, & T. Verhoef (Eds.), The Evolution of Language: Proceedings of the 11th International Conference (EVOLANG11). Retrieved from http://evolang.org/neworleans/papers/125.html.

    Abstract

    We investigated the use of Hidden Markov Models (HMMs) as a way of representing repertoires of continuous signals in order to infer their building blocks. We tested the idea on a dataset from an artificial language experiment. The study demonstrates using HMMs for this purpose is viable, but also that there is a lot of room for refinement such as explicit duration modeling, incorporation of autoregressive elements and relaxing the Markovian assumption, in order to accommodate specific details.
  • 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)
  • 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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    srep20911-s1.pdf
  • Ho, Y. Y. W., Evans, D. M., Montgomery, G. W., Henders, A. K., Kemp, J. P., Timpson, N. J., St Pourcain, B., Heath, A. C., Madden, P. A. F., Loesch, D. Z., McNevin, D., Daniel, R., Davey-Smith, G., Martin, N. G., & Medland, S. E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136(4), 859-862. doi:10.1016/j.jid.2015.10.062.
  • Evans, 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.
  • Everaerd, D., Klumpers, F., Zwiers, M., Guadalupe, T., Franke, B., Van Oostrum, I., Schene, A., Fernandez, G., & Tendolkar, I. (2016). Childhood abuse and deprivation are associated with distinct sex-dependent differences in brain morphology. Neuropsychopharmacology, 41, 1716-1723. doi:10.1038/npp.2015.344.

    Abstract

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

    Abstract

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

    Abstract

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

    Additional information

    AppendixResponseToHammarstrom.pdf
  • Eysenck, M. W., & Van Berkum, J. J. A. (1992). Trait anxiety, defensiveness, and the structure of worry. Personality and Individual Differences, 13(12), 1285-1290. Retrieved from http://www.sciencedirect.com/science//journal/01918869.

    Abstract

    A principal components analysis of the ten scales of the Worry Questionnaire revealed the existence of major worry factors or domains of social evaluation and physical threat, and these factors were confirmed in a subsequent item analysis. Those high in trait anxiety had much higher scores on the Worry Questionnaire than those low in trait anxiety, especially on those scales relating to social evaluation. Scores on the Marlowe-Crowne Social Desirability Scale were negatively related to worry frequency. However, groups of low-anxious and repressed individucores did not differ in worry. It was concluded that worry, especals formed on the basis of their trait anxiety and social desirability sially in the social evaluation domain, is of fundamental importance to trait anxiety.
  • Fan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y. and 17 moreFan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y., Ding, X., Wojciechowski, R., Young, T. L., Parssinen, O., Oexle, K., Pfeiffer, N., Bailey-Wilson, J. E., Paterson, A. D., Klaver, C. C. W., Plomin, R., Hammond, C. J., Mackey, D. A., He, M. G., Saw, S. M., Williams, C., Guggenheim, J. A., & Cream, C. (2016). Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Scientific Reports, 6: 25853. doi:10.1038/srep25853.

    Abstract

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

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  • 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

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

    Abstract

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

    Abstract

    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
  • 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.
  • Fernandez-Vest, M. M. J., & Van Valin Jr., R. D. (Eds.). (2016). Information structure and spoken language in a cross-linguistics perspective. Berlin: Mouton de Gruyter.
  • 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.
  • Filippi, P. (2016). Emotional and Interactional Prosody across Animal Communication Systems: A Comparative Approach to the Emergence of Language. Frontiers in Psychology, 7: 1393. doi:10.3389/fpsyg.2016.01393.

    Abstract

    Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.
  • Filippi, P., Congdon, J. V., Hoang, J., Bowling, D. L., Reber, S., Pašukonis, A., Hoeschele, M., Ocklenburg, S., de Boer, B., Sturdy, C. B., Newen, A., & Güntürkün, O. (2016). Humans Recognize Vocal Expressions Of Emotional States Universally Across Species. In The Evolution of Language: Proceedings of the 11th International Conference (EVOLANG11). Retrieved from http://evolang.org/neworleans/papers/91.html.

    Abstract

    The perception of danger in the environment can induce physiological responses (such as a heightened state of arousal) in animals, which may cause measurable changes in the prosodic modulation of the voice (Briefer, 2012). The ability to interpret the prosodic features of animal calls as an indicator of emotional arousal may have provided the first hominins with an adaptive advantage, enabling, for instance, the recognition of a threat in the surroundings. This ability might have paved the ability to process meaningful prosodic modulations in the emerging linguistic utterances.
  • Filippi, P., Ocklenburg, S., Bowling, D. L., Heege, L., Newen, A., Güntürkün, O., & de Boer, B. (2016). Multimodal Processing Of Emotional Meanings: A Hypothesis On The Adaptive Value Of Prosody. In The Evolution of Language: Proceedings of the 11th International Conference (EVOLANG11). Retrieved from http://evolang.org/neworleans/papers/90.html.

    Abstract

    Humans combine multiple sources of information to comprehend meanings. These sources can be characterized as linguistic (i.e., lexical units and/or sentences) or paralinguistic (e.g. body posture, facial expression, voice intonation, pragmatic context). Emotion communication is a special case in which linguistic and paralinguistic dimensions can simultaneously denote the same, or multiple incongruous referential meanings. Think, for instance, about when someone says “I’m sad!”, but does so with happy intonation and a happy facial expression. Here, the communicative channels express very specific (although conflicting) emotional states as denotations. In such cases of intermodal incongruence, are we involuntarily biased to respond to information in one channel over the other? We hypothesize that humans are involuntary biased to respond to prosody over verbal content and facial expression, since the ability to communicate socially relevant information such as basic emotional states through prosodic modulation of the voice might have provided early hominins with an adaptive advantage that preceded the emergence of segmental speech (Darwin 1871; Mithen, 2005). To address this hypothesis, we examined the interaction between multiple communicative channels in recruiting attentional resources, within a Stroop interference task (i.e. a task in which different channels give conflicting information; Stroop, 1935). In experiment 1, we used synonyms of “happy” and “sad” spoken with happy and sad prosody. Participants were asked to identify the emotion expressed by the verbal content while ignoring prosody (Word task) or vice versa (Prosody task). Participants responded faster and more accurately in the Prosody task. Within the Word task, incongruent stimuli were responded to more slowly and less accurately than congruent stimuli. In experiment 2, we adopted synonyms of “happy” and “sad” spoken in happy and sad prosody, while a happy or sad face was displayed. Participants were asked to identify the emotion expressed by the verbal content while ignoring prosody and face (Word task), to identify the emotion expressed by prosody while ignoring verbal content and face (Prosody task), or to identify the emotion expressed by the face while ignoring prosody and verbal content (Face task). Participants responded faster in the Face task and less accurately when the two non-focused channels were expressing an emotion that was incongruent with the focused one, as compared with the condition where all the channels were congruent. In addition, in the Word task, accuracy was lower when prosody was incongruent to verbal content and face, as compared with the condition where all the channels were congruent. Our data suggest that prosody interferes with emotion word processing, eliciting automatic responses even when conflicting with both verbal content and facial expressions at the same time. In contrast, although processed significantly faster than prosody and verbal content, faces alone are not sufficient to interfere in emotion processing within a three-dimensional Stroop task. Our findings align with the hypothesis that the ability to communicate emotions through prosodic modulation of the voice – which seems to be dominant over verbal content - is evolutionary older than the emergence of segmental articulation (Mithen, 2005; Fitch, 2010). This hypothesis fits with quantitative data suggesting that prosody has a vital role in the perception of well-formed words (Johnson & Jusczyk, 2001), in the ability to map sounds to referential meanings (Filippi et al., 2014), and in syntactic disambiguation (Soderstrom et al., 2003). This research could complement studies on iconic communication within visual and auditory domains, providing new insights for models of language evolution. Further work aimed at how emotional cues from different modalities are simultaneously integrated will improve our understanding of how humans interpret multimodal emotional meanings in real life interactions.
  • Filippi, P. (2013). Specifically Human: Going Beyond Perceptual Syntax. Biosemiotics, 7(1), 111-123. doi:10.1007/s12304-013-9187-3.

    Abstract

    The aim of this paper is to help refine the definition of humans as “linguistic animals” in light of a comparative approach on nonhuman animals’ cognitive systems. As Uexküll & Kriszat (1934/1992) have theorized, the epistemic access to each species-specific environment (Umwelt) is driven by different biocognitive processes. Within this conceptual framework, I identify the salient cognitive process that distinguishes each species typical perception of the world as the faculty of language meant in the following operational definition: the ability to connect different elements according to structural rules. In order to draw some conclusions about humans’ specific faculty of language, I review different empirical studies on nonhuman animals’ ability to recognize formal patterns of tokens. I suggest that what differentiates human language from other animals’ cognitive systems is the ability to categorize the units of a pattern, going beyond its perceptual aspects. In fact, humans are the only species known to be able to combine semantic units within a network of combinatorial logical relationships (Deacon 1997) that can be linked to the state of affairs in the external world (Wittgenstein 1922). I assume that this ability is the core cognitive process underlying a) the capacity to speak (or to reason) in verbal propositions and b) the general human faculty of language expressed, for instance, in the ability to draw visual conceptual maps or to compute mathematical expressions. In light of these considerations, I conclude providing some research questions that could lead to a more detailed comparative exploration of the faculty of language.
  • Filippi, P., Jadoul, Y., Ravignani, A., Thompson, B., & de Boer, B. (2016). Seeking Temporal Predictability in Speech: Comparing Statistical Approaches on 18 World Languages. Frontiers in Human Neuroscience, 10: 586. doi:10.3389/fnhum.2016.00586.

    Abstract

    Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.
  • Fisher, S. E. (2013). Building bridges between genes, brains and language. In J. J. Bolhuis, & M. Everaert (Eds.), Birdsong, speech and language: Exploring the evolution of mind and brain (pp. 425-454). Cambridge, Mass: MIT Press.
  • Fisher, S. E. (2016). A molecular genetic perspective on speech and language. In G. Hickok, & S. Small (Eds.), Neurobiology of Language (pp. 13-24). Amsterdam: Elsevier. doi:10.1016/B978-0-12-407794-2.00002-X.

    Abstract

    The rise of genomic technologies has yielded exciting new routes for studying the biological foundations of language. Researchers have begun to identify genes implicated in neurodevelopmental disorders that disrupt speech and language skills. This chapter illustrates how such work can provide powerful entry points into the critical neural pathways using FOXP2 as an example. Rare mutations of this gene cause problems with learning to sequence mouth movements during speech, accompanied by wide-ranging impairments in language production and comprehension. FOXP2 encodes a regulatory protein, a hub in a network of other genes, several of which have also been associated with language-related impairments. Versions of FOXP2 are found in similar form in many vertebrate species; indeed, studies of animals and birds suggest conserved roles in the development and plasticity of certain sets of neural circuits. Thus, the contributions of this gene to human speech and language involve modifications of evolutionarily ancient functions.
  • Fisher, S. E., Hatchwell, E., Chand, A., Ockenden, N., Monaco, A. P., & Craig, I. W. (1995). Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146. Genomics, 29(2), 496-502. doi:10.1006/geno.1995.9976.

    Abstract

    We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.
  • Fisher, S. E., & Ridley, M. (2013). Culture, genes, and the human revolution. Science, 340(6135), 929-930. doi:10.1126/science.1236171.

    Abstract

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

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  • Fisher, S. E., Van Bakel, I., Lloyd, S. E., Pearce, S. H. S., Thakker, R. V., & Craig, I. W. (1995). Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics, 29, 598-606. doi:10.1006/geno.1995.9960.

    Abstract

    Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.
  • Fisher, S. E. (2007). Molecular windows into speech and language disorders. Folia Phoniatrica et Logopaedica, 59, 130-140. doi:10.1159/000101771.

    Abstract

    Why do some children fail to acquire speech and language skills despite adequate environmental input and overtly normal neurological and anatomical development? It has been suspected for several decades, based on indirect evidence, that the human genome might hold some answers to this enigma. These suspicions have recently received dramatic confirmation with the discovery of specific genetic changes which appear sufficient to derail speech and language development. Indeed, researchers are already using information from genetic studies to aid early diagnosis and to shed light on the neural pathways that are perturbed in these inherited forms of speech and language disorder. Thus, we have entered an exciting era for dissecting the neural bases of human communication, one which takes genes and molecules as a starting point. In the current article I explain how this recent paradigm shift has occurred and describe the new vistas that have opened up. I demonstrate ways of bridging the gaps between molecules, neurons and the brain, which will provide a new understanding of the aetiology of speech and language impairments.
  • Fisher, S. E., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P., & Pembrey, M. E. (1998). Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics, 18, 168 -170. doi:10.1038/ng0298-168.

    Abstract

    Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.
  • Fitneva, S. A., Lam, N. H. L., & Dunfield, K. A. (2013). The development of children's information gathering: To look or to ask? Developmental Psychology, 49(3), 533-542. doi:10.1037/a0031326.

    Abstract

    The testimony of others and direct experience play a major role in the development of children's knowledge. Children actively use questions to seek others' testimony and explore the environment. It is unclear though whether children distinguish when it is better to ask from when it is better to try to find an answer by oneself. In 2 experiments, we examined the ability of 4- and 6-year-olds to select between looking and asking to determine visible and invisible properties of entities (e.g., hair color vs. knowledge of French). All children chose to look more often for visible than invisible properties. However, only 6-year-olds chose above chance to look for visible properties and to ask for invisible properties. Four-year-olds showed a preference for looking in one experiment and asking in the other. The results suggest substantial development in the efficacy of children's learning in early childhood.
  • FitzPatrick, I., & Indefrey, P. (2016). Accessing Conceptual Representations for Speaking [Editorial]. Frontiers in Psychology, 7: 1216. doi:10.3389/fpsyg.2016.01216.

    Abstract

    Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.
  • FitzPatrick, I. (2007). Effects of sentence context in L2 natural speech comprehension. Nijmegen CNS, 2, 43-56.

    Abstract

    Electrophysiological studies consistently find N400 effects of semantic incongruity in non-native written language comprehension. Typically these N400 effects are later than N400 effects in native comprehension, suggesting that semantic processing in one’s second language (L2) may be delayed compared to one’s first language (L1). In this study we were firstly interested in replicating the semantic incongruity effect using natural auditory speech, which poses strong demands on the speed of processing. Secondly, we wished to investigate whether a possible delay in semantic processing might be due to bilinguals accessing lexical items from both their L1 and L2 (a more extensive lexical search). We recorded EEG from 30 Dutch-English bilinguals who listened to English sentences � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � ��� � � in which the sentence-final word was: (1) semantically fitting, (2) semantically incongruent, (3) initially congruent: semantically incongruent, but sharing initial phonemes with the most probable sentence completion within the L2, (4) semantically incongruent, but sharing initial phonemes with the L1 translation equivalent of the most probable sentence completion. We found an N400 effect in each of the semantically incongruent conditions. This N400 effect was significantly delayed to L2 words that were initially congruent with the sentence context. We found no effect of initial overlap with L1 translation equivalents. Taken together these findings firstly demonstrate that non-native listeners are sensitive to semantic incongruity in natural speech, secondly indicate that semantic integration in non-native listening can start on the basis of word initial phonemes, and finally suggest that during L2 sentence processing listeners do not access the L1 lexicon.
  • Flecken, M., & Gerwien, J. (2013). Grammatical aspect modulates event duration estimations: findings from Dutch. In M. Knauff, M. Pauen, N. Sebanz, & I. Wachsmuth (Eds.), Proceedings of the 35th annual meeting of the Cognitive Science Society (CogSci 2013) (pp. 2309-2314). Austin,TX: Cognitive Science Society.
  • Flecken, M., von Stutterheim, C., & Carroll, M. (2013). Principles of information organization in L2 use: Complex patterns of conceptual transfer. International review of applied linguistics, 51(2), 229-242. doi:10.1515/iral-2013-0010.
  • Flecken, M., & Schmiedtova, B. (2007). The expression of simultaneity in L1 Dutch. Toegepaste Taalwetenschap in Artikelen, 77(1), 67-78.
  • Floyd, S. (2007). Changing times and local terms on the Rio Negro, Brazil: Amazonian ways of depolarizing epistemology, chronology and cultural Change. Latin American and Caribbean Ethnic studies, 2(2), 111-140. doi:10.1080/17442220701489548.

    Abstract

    Partway along the vast waterways of Brazil's middle Rio Negro, upstream from urban Manaus and downstream from the ethnographically famous Northwest Amazon region, is the town of Castanheiro, whose inhabitants skillfully negotiate a space between the polar extremes of 'traditional' and 'acculturated.' This paper takes an ethnographic look at the non-polarizing terms that these rural Amazonian people use for talking about cultural change. While popular and academic discourses alike have often framed cultural change in the Amazon as a linear process, Amazonian discourse provides resources for describing change as situated in shifting fields of knowledge of the social and physical environments, better capturing its non-linear complexity and ambiguity.
  • Floyd, S. (2016). [Review of the book Fluent Selves: Autobiography, Person, and History in Lowland South America ed. by Suzanne Oakdale and Magnus Course]. Journal of Linguistic Anthropology, 26(1), 110-111. doi:10.1111/jola.12112.
  • Floyd, S. (2013). [Review of the book Lessons from a Quechua strongwoman: ideophony, dialogue and perspective. by Janis Nuckolls. 2010]. Journal of Linguistic Anthropology, 22, 256-258. doi:10.1111/j.1548-1395.2012.01166.x.
  • Floyd, S. (2016). Insubordination in Interaction: The Cha’palaa counter-assertive. In N. Evans, & H. Wananabe (Eds.), Dynamics of Insubordination (pp. 341-366). Amsterdam: John Benjamins.

    Abstract

    In the Cha’palaa language of Ecuador the main-clause use of the otherwise non-finite morpheme -ba can be accounted for by a specific interactive practice: the ‘counter-assertion’ of statement or implicature of a previous conversational turn. Attention to the ways in which different constructions are deployed in such recurrent conversational contexts reveals a plausible account for how this type of dependent clause has come to be one of the options for finite clauses. After giving some background on Cha’palaa and placing ba clauses within a larger ecology of insubordination constructions in the language, this chapter uses examples from a video corpus of informal conversation to illustrate how interactive data provides answers that may otherwise be elusive for understanding how the different grammatical options for Cha’palaa finite verb constructions have been structured by insubordination
  • Floyd, S. (2016). Modally hybrid grammar? Celestial pointing for time-of-day reference in Nheengatú. Language, 92(1), 31-64. doi:10.1353/lan.2016.0013.

    Abstract

    From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.
  • Floyd, S. (2013). Semantic transparency and cultural calquing in the Northwest Amazon. In P. Epps, & K. Stenzel (Eds.), Upper Rio Negro: Cultural and linguistic interaction in northwestern Amazonia (pp. 271-308). Rio de Janiero: Museu do Indio. Retrieved from http://www.museunacional.ufrj.br/ppgas/livros_ele.html.

    Abstract

    The ethnographic literature has sometimes described parts of the northwest Amazon as areas of shared culture across linguistic groups. This paper illustrates how a principle of semantic transparency across languages is a key means of establishing elements of a common regional culture through practices like the calquing of ethnonyms and toponyms so that they are semantically, but not phonologically, equivalent across languages. It places the upper Rio Negro area of the northwest Amazon in a general discussion of cross-linguistic naming practices in South America and considers the extent to which a preference for semantic transparency can be linked to cases of widespread cultural ‘calquing’, in which culturally-important meanings are kept similar across different linguistic systems. It also addresses the principle of semantic transparency beyond specific referential phrases and into larger discourse structures. It concludes that an attention to semiotic practices in multilingual settings can provide new and more complex ways of thinking about the idea of shared culture.
  • Floyd, S., & Norcliffe, E. (2016). Switch reference systems in the Barbacoan languages and their neighbors. In R. Van Gijn, & J. Hammond (Eds.), Switch Reference 2.0 (pp. 207-230). Amsterdam: Benjamins.

    Abstract

    This chapter surveys the available data on Barbacoan languages and their neighbors to explore a case study of switch reference within a single language family and in a situation of areal contact. To the extent possible given the available data, we weigh accounts appealing to common inheritance and areal convergence to ask what combination of factors led to the current state of these languages. We discuss the areal distribution of switch reference systems in the northwest Andean region, the different types of systems and degrees of complexity observed, and scenarios of contact and convergence, particularly in the case of Barbacoan and Ecuadorian Quechua. We then covers each of the Barbacoan languages’ systems (with the exception of Totoró, represented by its close relative Guambiano), identifying limited formal cognates, primarily between closely-related Tsafiki and Cha’palaa, as well as broader functional similarities, particularly in terms of interactions with topic/focus markers. n accounts for the current state of affairs with a complex scenario of areal prevalence of switch reference combined with deep structural family inheritance and formal re-structuring of the systems over time
  • Floyd, S., Manrique, E., Rossi, G., & Torreira, F. (2016). Timing of visual bodily behavior in repair sequences: Evidence from three languages. Discourse Processes, 53(3), 175-204. doi:10.1080/0163853X.2014.992680.

    Abstract

    This article expands the study of other-initiated repair in conversation—when one party
    signals a problemwith producing or perceiving another’s turn at talk—into the domain
    of visual bodily behavior. It presents one primary cross-linguistic finding about the
    timing of visual bodily behavior in repair sequences: if the party who initiates repair
    accompanies their turn with a “hold”—when relatively dynamic movements are
    temporarily andmeaningfully held static—this positionwill not be disengaged until the
    problem is resolved and the sequence closed. We base this finding on qualitative and
    quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
    uncovered by this comparison suggest that visual bodily practices have been
    semiotized for similar interactive functions across different languages and modalities
    due to common pressures in face-to-face interaction.
  • Francken, J. C. (2016). Viewing the world through language-tinted glasses: Elucidating the neural mechanisms of language-perception interactions. PhD Thesis, Radboud University, Nijmegen.
  • Francks, C., Maegawa, S., Laurén, J., Abrahams, B. S., Velayos-Baeza, A., Medland, S. E., Colella, S., Groszer, M., McAuley, E. Z., Caffrey, T. M., Timmusk, T., Pruunsild, P., Koppel, I., Lind, P. A., Matsumoto-Itaba, N., Nicod, J., Xiong, L., Joober, R., Enard, W., Krinsky, B. and 22 moreFrancks, C., Maegawa, S., Laurén, J., Abrahams, B. S., Velayos-Baeza, A., Medland, S. E., Colella, S., Groszer, M., McAuley, E. Z., Caffrey, T. M., Timmusk, T., Pruunsild, P., Koppel, I., Lind, P. A., Matsumoto-Itaba, N., Nicod, J., Xiong, L., Joober, R., Enard, W., Krinsky, B., Nanba, E., Richardson, A. J., Riley, B. P., Martin, N. G., Strittmatter, S. M., Möller, H.-J., Rujescu, D., St Clair, D., Muglia, P., Roos, J. L., Fisher, S. E., Wade-Martins, R., Rouleau, G. A., Stein, J. F., Karayiorgou, M., Geschwind, D. H., Ragoussis, J., Kendler, K. S., Airaksinen, M. S., Oshimura, M., DeLisi, L. E., & Monaco, A. P. (2007). LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry, 12, 1129-1139. doi:10.1038/sj.mp.4002053.

    Abstract

    Left-right asymmetrical brain function underlies much of human cognition, behavior and emotion. Abnormalities of cerebral asymmetry are associated with schizophrenia and other neuropsychiatric disorders. The molecular, developmental and evolutionary origins of human brain asymmetry are unknown. We found significant association of a haplotype upstream of the gene LRRTM1 (Leucine-rich repeat transmembrane neuronal 1) with a quantitative measure of human handedness in a set of dyslexic siblings, when the haplotype was inherited paternally (P=0.00002). While we were unable to find this effect in an epidemiological set of twin-based sibships, we did find that the same haplotype is overtransmitted paternally to individuals with schizophrenia/schizoaffective disorder in a study of 1002 affected families (P=0.0014). We then found direct confirmatory evidence that LRRTM1 is an imprinted gene in humans that shows a variable pattern of maternal downregulation. We also showed that LRRTM1 is expressed during the development of specific forebrain structures, and thus could influence neuronal differentiation and connectivity. This is the first potential genetic influence on human handedness to be identified, and the first putative genetic effect on variability in human brain asymmetry. LRRTM1 is a candidate gene for involvement in several common neurodevelopmental disorders, and may have played a role in human cognitive and behavioral evolution.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2007). Coherence-driven resolution of referential ambiguity: A computational model. Memory & Cognition, 35(6), 1307-1322.

    Abstract

    We present a computational model that provides a unified account of inference, coherence, and disambiguation. It simulates how the build-up of coherence in text leads to the knowledge-based resolution of referential ambiguity. Possible interpretations of an ambiguity are represented by centers of gravity in a high-dimensional space. The unresolved ambiguity forms a vector in the same space. This vector is attracted by the centers of gravity, while also being affected by context information and world knowledge. When the vector reaches one of the centers of gravity, the ambiguity is resolved to the corresponding interpretation. The model accounts for reading time and error rate data from experiments on ambiguous pronoun resolution and explains the effects of context informativeness, anaphor type, and processing depth. It shows how implicit causality can have an early effect during reading. A novel prediction is that ambiguities can remain unresolved if there is insufficient disambiguating information.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2007). Modeling multiple levels of text presentation. In F. Schmalhofer, & C. A. Perfetti (Eds.), Higher level language processes in the brain: Inference and comprehension processes (pp. 133-157). Mahwah, NJ: Erlbaum.
  • Frank, S. L., & Fitz, H. (2016). Reservoir computing and the Sooner-is-Better bottleneck [Commentary on Christiansen & Slater]. Behavioral and Brain Sciences, 39: e73. doi:10.1017/S0140525X15000783.

    Abstract

    Prior language input is not lost but integrated with the current input. This principle is demonstrated by “reservoir computing”: Untrained recurrent neural networks project input sequences onto a random point in high-dimensional state space. Earlier inputs can be retrieved from this projection, albeit less reliably so as more input is received. The bottleneck is therefore not “Now-or-Never” but “Sooner-is-Better.
  • Franke, B., Stein, J. L., Ripke, S., Anttila, V., Hibar, D. P., Van Hulzen, K. J. E., Arias-Vasquez, A., Smoller, J. W., Nichols, T. E., Neale, M. C., McIntosh, A. M., Lee, P., McMahon, F. J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O. A., Gruber, O., Sachdev, P. S., Roiz-Santiañez, R., Saykin, A. J. and 17 moreFranke, B., Stein, J. L., Ripke, S., Anttila, V., Hibar, D. P., Van Hulzen, K. J. E., Arias-Vasquez, A., Smoller, J. W., Nichols, T. E., Neale, M. C., McIntosh, A. M., Lee, P., McMahon, F. J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O. A., Gruber, O., Sachdev, P. S., Roiz-Santiañez, R., Saykin, A. J., Ehrlich, S., Mather, K. A., Turner, J. A., Schwarz, E., Thalamuthu, A., Yao, Y., Ho, Y. Y. W., Martin, N. G., Wright, M. J., Guadalupe, T., Fisher, S. E., Francks, C., Schizophrenia Working Group of the Psychiatric Genomics Consortium, ENIGMA Consortium, O’Donovan, M. C., Thompson, P. M., Neale, B. M., Medland, S. E., & Sullivan, P. F. (2016). Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature Neuroscience, 19, 420-431. doi:10.1038/nn.4228.

    Abstract

    Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders

    Additional information

    Franke_etal_2016_supp1.pdf
  • French, C. A., Groszer, M., Preece, C., Coupe, A.-M., Rajewsky, K., & Fisher, S. E. (2007). Generation of mice with a conditional Foxp2 null allele. Genesis, 45(7), 440-446. doi:10.1002/dvg.20305.

    Abstract

    Disruptions of the human FOXP2 gene cause problems with articulation of complex speech sounds, accompanied by impairment in many aspects of language ability. The FOXP2/Foxp2 transcription factor is highly similar in humans and mice, and shows a complex conserved expression pattern, with high levels in neuronal subpopulations of the cortex, striatum, thalamus, and cerebellum. In the present study we generated mice in which loxP sites flank exons 12-14 of Foxp2; these exons encode the DNA-binding motif, a key functional domain. We demonstrate that early global Cre-mediated recombination yields a null allele, as shown by loss of the loxP-flanked exons at the RNA level and an absence of Foxp2 protein. Homozygous null mice display severe motor impairment, cerebellar abnormalities and early postnatal lethality, consistent with other Foxp2 mutants. When crossed to transgenic lines expressing Cre protein in a spatially and/or temporally controlled manner, these conditional mice will provide new insights into the contributions of Foxp2 to distinct neural circuits, and allow dissection of roles during development and in the mature brain.
  • Freunberger, D., & Nieuwland, M. S. (2016). Incremental comprehension of spoken quantifier sentences: Evidence from brain potentials. Brain Research, 1646, 475-481. doi:10.1016/j.brainres.2016.06.035.

    Abstract

    Do people incrementally incorporate the meaning of quantifier expressions to understand an unfolding sentence? Most previous studies concluded that quantifiers do not immediately influence how a sentence is understood based on the observation that online N400-effects differed from offline plausibility judgments. Those studies, however, used serial visual presentation (SVP), which involves unnatural reading. In the current ERP-experiment, we presented spoken positive and negative quantifier sentences (“Practically all/practically no postmen prefer delivering mail, when the weather is good/bad during the day”). Different from results obtained in a previously reported SVP-study (Nieuwland, 2016) sentence truth-value N400 effects occurred in positive and negative quantifier sentences alike, reflecting fully incremental quantifier comprehension. This suggests that the prosodic information available during spoken language comprehension supports the generation of online predictions for upcoming words and that, at least for quantifier sentences, comprehension of spoken language may proceed more incrementally than comprehension during SVP reading.
  • Frost, R. L. A., & Monaghan, P. (2016). Simultaneous segmentation and generalisation of non-adjacent dependencies from continuous speech. Cognition, 147, 70-74. doi:10.1016/j.cognition.2015.11.010.

    Abstract

    Language learning requires mastering multiple tasks, including segmenting speech to identify words, and learning the syntactic role of these words within sentences. A key question in language acquisition research is the extent to which these tasks are sequential or successive, and consequently whether they may be driven by distinct or similar computations. We explored a classic artificial language learning paradigm, where the language structure is defined in terms of non-adjacent dependencies. We show that participants are able to use the same statistical information at the same time to segment continuous speech to both identify words and to generalise over the structure, when the generalisations were over novel speech that the participants had not previously experienced. We suggest that, in the absence of evidence to the contrary, the most economical explanation for the effects is that speech segmentation and grammatical generalisation are dependent on similar statistical processing mechanisms.
  • Frost, R. L. A., Monaghan, P., & Christiansen, M. H. (2016). Using Statistics to Learn Words and Grammatical Categories: How High Frequency Words Assist Language Acquisition. In A. Papafragou, D. Mirman, & J. Trueswell (Eds.), Proceedings of the 38th Annual Meeting of the Cognitive Science Society (CogSci 2016) (pp. 81-86). Austin, Tx: Cognitive Science Society. Retrieved from https://mindmodeling.org/cogsci2016/papers/0027/index.html.

    Abstract

    Recent studies suggest that high-frequency words may benefit speech segmentation (Bortfeld, Morgan, Golinkoff, & Rathbun, 2005) and grammatical categorisation (Monaghan, Christiansen, & Chater, 2007). To date, these tasks have been examined separately, but not together. We familiarised adults with continuous speech comprising repetitions of target words, and compared learning to a language in which targets appeared alongside high-frequency marker words. Marker words reliably preceded targets, and distinguished them into two otherwise unidentifiable categories. Participants completed a 2AFC segmentation test, and a similarity judgement categorisation test. We tested transfer to a word-picture mapping task, where words from each category were used either consistently or inconsistently to label actions/objects. Participants segmented the speech successfully, but only demonstrated effective categorisation when speech contained high-frequency marker words. The advantage of marker words extended to the early stages of the transfer task. Findings indicate the same high-frequency words may assist speech segmentation and grammatical categorisation.
  • Fueller, C., Loescher, J., & Indefrey, P. (2013). Writing superiority in cued recall. Frontiers in Psychology, 4: 764. doi:10.3389/fpsyg.2013.00764.

    Abstract

    In list learning paradigms with free recall, written recall has been found to be less susceptible to intrusions of related concepts than spoken recall when the list items had been visually presented. This effect has been ascribed to the use of stored orthographic representations from the study phase during written recall (Kellogg, 2001). In other memory retrieval paradigms, by contrast, either better recall for modality-congruent items or an input-independent writing superiority effect have been found (Grabowski, 2005). In a series of four experiments using a paired associate learning paradigm we tested (a) whether output modality effects on verbal recall can be replicated in a paradigm that does not involve the rejection of semantically related intrusion words, (b) whether a possible superior performance for written recall was due to a slower response onset for writing as compared to speaking in immediate recall, and (c) whether the performance in paired associate word recall was correlated with performance in an additional episodic memory recall task. We observed better written recall in the first half of the recall phase, irrespective of the modality in which the material was presented upon encoding. An explanation for this effect based on longer response latencies for writing and hence more time for memory retrieval could be ruled out by showing that the effect persisted in delayed response versions of the task. Although there was some evidence that stored additional episodic information may contribute to the successful retrieval of associate words, this evidence was only found in the immediate response experiments and hence is most likely independent from the observed output modality effect. In sum, our results from a paired associate learning paradigm suggest that superior performance for written vs. spoken recall cannot be (solely) explained in terms of additional access to stored orthographic representations from the encoding phase. Our findings rather suggest a general writing-superiority effect at the time of memory retrieval.
  • Furman, R., & Ozyurek, A. (2007). Development of interactional discourse markers: Insights from Turkish children's and adults' narratives. Journal of Pragmatics, 39(10), 1742-1757. doi:10.1016/j.pragma.2007.01.008.

    Abstract

    Discourse markers (DMs) are linguistic elements that index different relations and coherence between units of talk (Schiffrin, Deborah, 1987. Discourse Markers. Cambridge University Press, Cambridge). Most research on the development of these forms has focused on conversations rather than narratives and furthermore has not directly compared children's use of DMs to adult usage. This study examines the development of three DMs (şey ‘uuhh’, yani ‘I mean’, işte ‘y’know’) that mark interactional levels of discourse in oral Turkish narratives in 60 Turkish children (3-, 5- and 9-year-olds) and 20 Turkish-speaking adults. The results show that the frequency and functions of DMs change with age. Children learn şey, which mainly marks exchange level structures, earliest. However, yani and işte have multi-functions such as marking both information states and participation frameworks and are consequently learned later. Children also use DMs with different functions than adults. Overall, the results show that learning to use interactional DMs in narratives is complex and goes beyond age 9, especially for multi-functional DMs that index an interplay of discourse coherence at different levels.
  • Furuyama, N., & Sekine, K. (2007). Forgetful or strategic? The mystery of the systematic avoidance of reference in the cartoon story nsarrative. In S. D. Duncan, J. Cassel, & E. T. Levy (Eds.), Gesture and the Dynamic Dimension of Language: Essays in honor of David McNeill (pp. 75-81). Amsterdam: John Benjamins Publishing Company.
  • Gannon, E., He, J., Gao, X., & Chaparro, B. (2016). RSVP Reading on a Smart Watch. In Proceedings of the Human Factors and Ergonomics Society 2016 Annual Meeting (pp. 1130-1134).

    Abstract

    Reading with Rapid Serial Visual Presentation (RSVP) has shown promise for optimizing screen space and increasing reading speed without compromising comprehension. Given the wide use of small-screen devices, the present study compared RSVP and traditional reading on three types of reading comprehension, reading speed, and subjective measures on a smart watch. Results confirm previous studies that show faster reading speed with RSVP without detracting from comprehension. Subjective data indicate that Traditional is strongly preferred to RSVP as a primary reading method. Given the optimal use of screen space, increased speed and comparable comprehension, future studies should focus on making RSVP a more comfortable format.
  • Ganushchak, L. Y., Krott, A., Frisson, S., & Meyer, A. S. (2013). Processing words and Short Message Service shortcuts in sentential contexts: An eye movement study. Applied Psycholinguistics, 34, 163-179. doi:10.1017/S0142716411000658.

    Abstract

    The present study investigated whether Short Message Service shortcuts are more difficult to process in sentence context than the spelled-out word equivalent and, if so, how any additional processing difficulty arises. Twenty-four student participants read 37 Short Message Service shortcuts and word equivalents embedded in semantically plausible and implausible contexts (e.g., He left/drank u/you a note) while their eye movements were recorded. There were effects of plausibility and spelling on early measures of processing difficulty (first fixation durations, gaze durations, skipping, and first-pass regression rates for the targets), but there were no interactions of plausibility and spelling. Late measures of processing difficulty (second run gaze duration and total fixation duration) were only affected by plausibility but not by spelling. These results suggest that shortcuts are harder to recognize, but that, once recognized, they are integrated into the sentence context as easily as ordinary words.
  • Gaub, S., Fisher, S. E., & Ehret, G. (2016). Ultrasonic vocalizations of adult male Foxp2-mutant mice: Behavioral contexts of arousal and emotion. Genes, Brain and Behavior, 15(2), 243-259. doi:10.1111/gbb.12274.

    Abstract

    Adult mouse ultrasonic vocalizations (USVs) occur in multiple behavioral and stimulus contexts associated with various levels of arousal, emotion, and social interaction. Here, in three experiments of increasing stimulus intensity (water; female urine; male interacting with adult female), we tested the hypothesis that USVs of adult males express the strength of arousal and emotion via different USV parameters (18 parameters analyzed). Furthermore, we analyzed two mouse lines with heterozygous Foxp2 mutations (R552H missense, S321X nonsense), known to produce severe speech and language disorders in humans. These experiments allowed us to test whether intact Foxp2 function is necessary for developing full adult USV repertoires, and whether mutations of this gene influence instinctive vocal expressions based on arousal and emotion. The results suggest that USV calling rate characterizes the arousal level, while sound pressure and spectro-temporal call complexity (overtones/harmonics, type of frequency jumps) may provide indices of levels of positive emotion. The presence of Foxp2 mutations did not qualitatively affect the USVs; all USV types that were found in wild-type animals also occurred in heterozygous mutants. However, mice with Foxp2 mutations displayed quantitative differences in USVs as compared to wild-types, and these changes were context dependent. Compared to wild-type animals, heterozygous mutants emitted mainly longer and louder USVs at higher minimum frequencies with a higher occurrence rate of overtones/harmonics and complex frequency jump types. We discuss possible hypotheses about Foxp2 influence on emotional vocal expressions, which can be investigated in future experiments using selective knockdown of Foxp2 in specific brain circuits.
  • Gauvin, H. S., Hartsuiker, R. J., & Huettig, F. (2013). Speech monitoring and phonologically-mediated eye gaze in language perception and production: A comparison using printed word eye-tracking. Frontiers in Human Neuroscience, 7: 818. doi:10.3389/fnhum.2013.00818.

    Abstract

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

    Abstract

    Our species displays remarkable linguistic diversity. While the uneven distribution of this diversity demands explanation, the drivers of these patterns have not been conclusively determined. We address this issue in two steps. First, we review previous empirical studies that have suggested environmental, geographical, and socio-cultural drivers of linguistic diversification. However, contradictory results and methodological variation make it difficult to draw general conclusions. Second, we outline a program for future research. We suggest that future analyses should account for interactions among causal factors, lack of spatial and phylogenetic independence of data, and transitory patterns. Recent analytical advances in biogeography and evolutionary biology, such as simulation modeling of diversity patterns, hold promise for testing four key mechanisms of language diversification proposed here: neutral change, population movement, contact, and selection. Future modeling approaches should also evaluate how the outcomes of these processes are influenced by demography, environmental heterogeneity, and time.
  • Geambaşu, A., Ravignani, A., & Levelt, C. C. (2016). Preliminary experiments on human sensitivity to rhythmic structure in a grammar with recursive self-similarity. Frontiers in Neuroscience, 10: 281. doi:10.3389/fnins.2016.00281.

    Abstract

    We present the first rhythm detection experiment using a Lindenmayer grammar, a self-similar recursive grammar shown previously to be learnable by adults using speech stimuli. Results show that learners were unable to correctly accept or reject grammatical and ungrammatical strings at the group level, although five (of 40) participants were able to do so with detailed instructions before the exposure phase.
  • Gebre, B. G., Wittenburg, P., & Heskes, T. (2013). Automatic sign language identification. In Proceeding of the 20th IEEE International Conference on Image Processing (ICIP) (pp. 2626-2630).

    Abstract

    We propose a Random-Forest based sign language identification system. The system uses low-level visual features and is based on the hypothesis that sign languages have varying distributions of phonemes (hand-shapes, locations and movements). We evaluated the system on two sign languages -- British SL and Greek SL, both taken from a publicly available corpus, called Dicta Sign Corpus. Achieved average F1 scores are about 95% - indicating that sign languages can be identified with high accuracy using only low-level visual features.
  • Gebre, B. G., Wittenburg, P., & Heskes, T. (2013). Automatic signer diarization - the mover is the signer approach. In Computer Vision and Pattern Recognition Workshops (CVPRW), 2013 IEEE Conference on (pp. 283-287). doi:10.1109/CVPRW.2013.49.

    Abstract

    We present a vision-based method for signer diarization -- the task of automatically determining "who signed when?" in a video. This task has similar motivations and applications as speaker diarization but has received little attention in the literature. In this paper, we motivate the problem and propose a method for solving it. The method is based on the hypothesis that signers make more movements than their interlocutors. Experiments on four videos (a total of 1.4 hours and each consisting of two signers) show the applicability of the method. The best diarization error rate (DER) obtained is 0.16.
  • Gebre, B. G., Zampieri, M., Wittenburg, P., & Heskes, T. (2013). Improving Native Language Identification with TF-IDF weighting. In Proceedings of the Eighth Workshop on Innovative Use of NLP for Building Educational Applications (pp. 216-223).

    Abstract

    This paper presents a Native Language Identification (NLI) system based on TF-IDF weighting schemes and using linear classifiers - support vector machines, logistic regressions and perceptrons. The system was one of the participants of the 2013 NLI Shared Task in the closed-training track, achieving 0.814 overall accuracy for a set of 11 native languages. This accuracy was only 2.2 percentage points lower than the winner's performance. Furthermore, with subsequent evaluations using 10-fold cross-validation (as given by the organizers) on the combined training and development data, the best average accuracy obtained is 0.8455 and the features that contributed to this accuracy are the TF-IDF of the combined unigrams and bigrams of words.
  • Gebre, B. G., Wittenburg, P., & Heskes, T. (2013). The gesturer is the speaker. In Proceedings of the 38th International Conference on Acoustics, Speech, and Signal Processing (ICASSP 2013) (pp. 3751-3755).

    Abstract

    We present and solve the speaker diarization problem in a novel way. We hypothesize that the gesturer is the speaker and that identifying the gesturer can be taken as identifying the active speaker. We provide evidence in support of the hypothesis from gesture literature and audio-visual synchrony studies. We also present a vision-only diarization algorithm that relies on gestures (i.e. upper body movements). Experiments carried out on 8.9 hours of a publicly available dataset (the AMI meeting data) show that diarization error rates as low as 15% can be achieved.
  • Gentner, D., Ozyurek, A., Gurcanli, O., & Goldin-Meadow, S. (2013). Spatial language facilitates spatial cognition: Evidence from children who lack language input. Cognition, 127, 318-330. doi:10.1016/j.cognition.2013.01.003.

    Abstract

    Does spatial language influence how people think about space? To address this question, we observed children who did not know a conventional language, and tested their performance on nonlinguistic spatial tasks. We studied deaf children living in Istanbul whose hearing losses prevented them from acquiring speech and whose hearing parents had not exposed them to sign. Lacking a conventional language, the children used gestures, called homesigns, to communicate. In Study 1, we asked whether homesigners used gesture to convey spatial relations, and found that they did not. In Study 2, we tested a new group of homesigners on a Spatial Mapping Task, and found that they performed significantly worse than hearing Turkish children who were matched to the deaf children on another cognitive task. The absence of spatial language thus went hand-in-hand with poor performance on the nonlinguistic spatial task, pointing to the importance of spatial language in thinking about space.
  • Gerwien, J., & Flecken, M. (2016). First things first? Top-down influences on event apprehension. In A. Papafragou, D. Grodner, D. Mirman, & J. Trueswell (Eds.), Proceedings of the 38th Annual Meeting of the Cognitive Science Society (CogSci 2016) (pp. 2633-2638). Austin, TX: Cognitive Science Society.

    Abstract

    Not much is known about event apprehension, the earliest stage of information processing in elicited language production studies, using pictorial stimuli. A reason for our lack of knowledge on this process is that apprehension happens very rapidly (<350 ms after stimulus onset, Griffin & Bock 2000), making it difficult to measure the process directly. To broaden our understanding of apprehension, we analyzed landing positions and onset latencies of first fixations on visual stimuli (pictures of real-world events) given short stimulus presentation times, presupposing that the first fixation directly results from information processing during apprehension
  • Ghatan, P. H., Hsieh, J. C., Petersson, K. M., Stone-Elander, S., & Ingvar, M. (1998). Coexistence of attention-based facilitation and inhibition in the human cortex. NeuroImage, 7, 23-29.

    Abstract

    A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.
  • Gialluisi, A., Incollu, S., Pippucci, T., Lepori, M. B., Zappu, A., Loudianos, G., & Romeo, G. (2013). The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. European Journal of Human Genetics, 21, 1308-1311. doi:10.1038/ejhg.2013.43.

    Abstract

    Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10-4, HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.
  • Gialluisi, A., Visconti, A., Wilcutt, E. G., Smith, S., Pennington, B., Falchi, M., DeFries, J., Olson, R., Francks, C., & Fisher, S. E. (2016). Investigating the effects of copy number variants on reading and language performance. Journal of Neurodevelopmental Disorders, 8: 17. doi:10.1186/s11689-016-9147-8.

    Abstract

    Background

    Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).
    Methods

    In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV−), and we analyzed continuous probe intensity data using FamCNV.
    Results

    No significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10−2–10−3) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026–0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10−2–10−4) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls.
    Conclusions

    These data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language.

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