Publications

Displaying 301 - 400 of 1451
  • Enfield, N. J., & Diffloth, G. (2009). Phonology and sketch grammar of Kri, a Vietic language of Laos. Cahiers de Linguistique - Asie Orientale (CLAO), 38(1), 3-69.
  • Enfield, N. J. (2010). Questions and responses in Lao. Journal of Pragmatics, 42, 2649-2665. doi:10.1016/j.pragma.2010.04.004.

    Abstract

    This paper surveys the structure of questions and their responses in Lao, a Southwestern Tai language spoken in Laos, Thailand, and Cambodia. Data are from video-recordings of naturally occurring conversation in Vientiane, Laos. An outline of the lexico-grammatical options for formulating questions describes content (‘WH’) questions and polar (‘yes/no’) questions. The content question forms are from a set of indefinite pronouns. The WHAT, WHERE, and WHO categories have higher token frequency than the other categories. Polar questions are mostly formed by the addition of different turn-final markers, with different meanings. ‘Declarative questions’ (i.e., polar questions which are formally identical to statements) are common. An examination of the interactional functions of questions in the data show asymmetries between polar and content questions, with content questions used mostly for requesting information, while polar questions are also widely used for requesting confirmation, among other things. There is discussion of the kinds of responses that are appropriate or preferred given certain types of question. Alongside discussion of numerous examples, the paper provides quantitative data on the frequencies of various patterns in questions and responses. These data form part of a large-scale, ten-language coding study.
  • Enfield, N. J. (2009). Relationship thinking and human pragmatics. Journal of Pragmatics, 41, 60-78. doi:10.1016/j.pragma.2008.09.007.

    Abstract

    The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.
  • Enfield, N. J. (2000). The theory of cultural logic: How individuals combine social intelligence with semiotics to create and maintain cultural meaning. Cultural Dynamics, 12(1), 35-64. doi:10.1177/092137400001200102.

    Abstract

    The social world is an ecological complex in which cultural meanings and knowledges (linguistic and non-linguistic) personally embodied by individuals are intercalibrated via common attention to commonly accessible semiotic structures. This interpersonal ecology bridges realms which are the subject matter of both anthropology and linguistics, allowing the public maintenance of a system of assumptions and counter-assumptions among individuals as to what is mutually known (about), in general and/or in any particular context. The mutual assumption of particular cultural ideas provides human groups with common premises for predictably convergent inferential processes. This process of people collectively using effectively identical assumptions in interpreting each other's actions—i.e. hypothesizing as to each other's motivations and intentions—may be termed cultural logic. This logic relies on the establishment of stereotypes and other kinds of precedents, catalogued in individuals’ personal libraries, as models and scenarios which may serve as reference in inferring and attributing motivations behind people's actions, and behind other mysterious phenomena. This process of establishing conceptual convention depends directly on semiotics, since groups of individuals rely on external signs as material for common focus and, thereby, agreement. Social intelligence binds signs in the world (e.g. speech sounds impressing upon eardrums), with individually embodied representations (e.g. word meanings and contextual schemas). The innate tendency for people to model the intentions of others provides an ultimately biological account for the logic behind culture. Ethnographic examples are drawn from Laos and Australia.
  • Enfield, N. J. (2010). Without social context? [Book review of Fitch 2010 and Larson et al. 2010]. Science, 329(5999), 1600-1601. doi:10.1126/science.1194229.

    Abstract

    Both of these considerations of the evolution of language draw on research from a wide range of fields, although Enfield believes they do not pay sufficient attention to the dynamic context of human social behavior.
  • Englert, C. (2010). Questions and responses in Dutch conversations. Journal of Pragmatics, 42, 2666-2684. doi:10.1016/j.pragma.2010.04.005.

    Abstract

    Based on an analysis of 350 questions and their responses in a corpus of ordinary interactions, this paper gives a descriptive overview of the ways Dutch interactants formulate their utterances to make them recognizable as doing questioning and the options they rely on to respond to these questions. I describe the formal options for formulating questions and responses in Dutch and the range of social actions (e.g. requests for information, requests for confirmation) that are implemented through questions in the corpus. Finally, I focus on answer design and discuss some of the coherence relations between questions, answers, and social actions. Questions that are asked to elicit information are associated with the more prototypical, lexico-morpho-syntactically defined question type such as polar interrogatives and, mainly, content questions. Most polar questions with declarative syntax are not primarily concerned with obtaining information but with doing other kinds of social actions
  • Erard, M. (2009). How Many Languages? Linguists Discover New Tongues in China. Science, 324(5925), 332-333. doi:10.1126/science.324.5925.332a.
  • Erard, M. (2016). Solving Australia's language puzzle. Science, 353(6306), 1357-1359. doi:10.1126/science.353.6306.1357.
  • Ernestus, M., & Baayen, R. H. (2003). Predicting the unpredictable: The phonological interpretation of neutralized segments in Dutch. Language, 79(1), 5-38.

    Abstract

    Among the most fascinating data for phonology are those showing how speakers incorporate new words and foreign words into their language system, since these data provide cues to the actual principles underlying language. In this article, we address how speakers deal with neutralized obstruents in new words. We formulate four hypotheses and test them on the basis of Dutch word-final obstruents, which are neutral for [voice]. Our experiments show that speakers predict the characteristics ofneutralized segments on the basis ofphonologically similar morphemes stored in the mental lexicon. This effect of the similar morphemes can be modeled in several ways. We compare five models, among them STOCHASTIC OPTIMALITY THEORY and ANALOGICAL MODELING OF LANGUAGE; all perform approximately equally well, but they differ in their complexity, with analogical modeling oflanguage providing the most economical explanation.
  • Ernestus, M., Baayen, R. H., & Schreuder, R. (2002). The recognition of reduced word forms. Brain and Language, 81(1-3), 162-173. doi:10.1006/brln.2001.2514.

    Abstract

    This article addresses the recognition of reduced word forms, which are frequent in casual speech. We describe two experiments on Dutch showing that listeners only recognize highly reduced forms well when these forms are presented in their full context and that the probability that a listener recognizes a word form in limited context is strongly correlated with the degree of reduction of the form. Moreover, we show that the effect of degree of reduction can only partly be interpreted as the effect of the intelligibility of the acoustic signal, which is negatively correlated with degree of reduction. We discuss the consequences of our findings for models of spoken word recognition and especially for the role that storage plays in these models.
  • Ernestus, M. (2014). Acoustic reduction and the roles of abstractions and exemplars in speech processing. Lingua, 142, 27-41. doi:10.1016/j.lingua.2012.12.006.

    Abstract

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

    Abstract

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

    Abstract

    This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.
  • Ernestus, M., & Baayen, R. H. (2004). Kuchde, tobte, en turfte: Lekkage in 't kofschip. Onze Taal, 73(12), 360-361.
  • Ernestus, M., Giezenaar, G., & Dikmans, M. (2016). Ikfstajezotuuknie: Half uitgesproken woorden in alledaagse gesprekken. Les, 199, 7-9.

    Abstract

    Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.
  • Eschenko, O., Canals, S., Simanova, I., & Logothetis, N. K. (2010). Behavioral, electrophysiological and histopathological consequences of systemic manganese administration in MEMRI. Magnetic Resonance Imaging, 28, 1165-1174. doi:10.1016/j.mri.2009.12.022.

    Abstract

    Manganese (Mn2+)-enhanced magnetic resonance imaging (MEMRI) offers the possibility to generate longitudinal maps of brain activity in unrestrained and behaving animals. However, Mn2+ is a metabolic toxin and a competitive inhibitor for Ca2+, and therefore, a yet unsolved question in MEMRI studies is whether the concentrations of metal ion used may alter brain physiology. In the present work we have investigated the behavioral, electrophysiological and histopathological consequences of MnCl2 administration at concentrations and dosage protocols regularly used in MEMRI. Three groups of animals were sc injected with saline, 0.1 and 0.5 mmol/kg MnCl2, respectively. In vivo electrophysiological recordings in the hippocampal formation revealed a mild but detectable decrease in both excitatory postsynaptic potentials (EPSP) and population spike (PS) amplitude under the highest MnCl2 dose. The EPSP to PS ratio was preserved at control levels, indicating that neuronal excitability was not affected. Experiments of pair pulse facilitation demonstrated a dose dependent increase in the potentiation of the second pulse, suggesting presynaptic Ca2+ competition as the mechanism for the decreased neuronal response. Tetanization of the perforant path induced a long-term potentiation of synaptic transmission that was comparable in all groups, regardless of treatment. Accordingly, the choice accuracy tested on a hippocampal-dependent learning task was not affected. However, the response latency in the same task was largely increased in the group receiving 0.5 mmol/kg of MnCl2. Immunohistological examination of the hippocampus at the end of the experiments revealed no sign of neuronal toxicity or glial reaction. Although we show that MEMRI at 0.1 mmol/Kg MnCl2 may be safely applied to the study of cognitive networks, a detailed assessment of toxicity is strongly recommended for each particular study and Mn2+ administration protocol.
  • Eschenko, O., Canals, S., Simanova, I., Beyerlein, M., Murayama, Y., & Logothetis, N. K. (2010). Mapping of functional brain activity in freely behaving rats during voluntary running using manganese-enhanced MRI: Implication for longitudinal studies. Neuroimage, 49, 2544-2555. doi:10.1016/j.neuroimage.2009.10.079.

    Abstract

    Magnetic resonance imaging (MRI) is widely used in basic and clinical research to map the structural and functional organization of the brain. An important need of MR research is for contrast agents that improve soft-tissue contrast, enable visualization of neuronal tracks, and enhance the capacity of MRI to provide functional information at different temporal scales. Unchelated manganese can be such an agent, and manganese-enhanced MRI (MEMRI) can potentially be an excellent technique for localization of brain activity (for review see Silva et al., 2004). Yet, the toxicity of manganese presents a major limitation for employing MEMRI in behavioral paradigms. We have tested systematically the voluntary wheel running behavior of rats after systemic application of MnCl2 in a dose range of 16–80 mg/kg, which is commonly used in MEMRI studies. The results show a robust dose-dependent decrease in motor performance, which was accompanied by weight loss and decrease in food intake. The adverse effects lasted for up to 7 post-injection days. The lowest dose of MnCl2 (16 mg/kg) produced minimal adverse effects, but was not sufficient for functional mapping. We have therefore evaluated an alternative method of manganese delivery via osmotic pumps, which provide a continuous and slow release of manganese. In contrast to a single systemic injection, the pump method did not produce any adverse locomotor effects, while achieving a cumulative concentration of manganese (80 mg/kg) sufficient for functional mapping. Thus, MEMRI with such an optimized manganese delivery that avoids toxic effects can be safely applied for longitudinal studies in behaving animals.
  • Estruch, S. B., Graham, S. A., Chinnappa, S. M., Deriziotis, P., & Fisher, S. E. (2016). Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. Journal of Neurodevelopmental Disorders, 8: 44. doi:10.1186/s11689-016-9177-2.
  • Estruch, S. B., Graham, S. A., Deriziotis, P., & Fisher, S. E. (2016). The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers. Scientific Reports, 6: 20911. doi:10.1038/srep20911.

    Abstract

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

    Additional information

    srep20911-s1.pdf
  • Ho, Y. Y. W., Evans, D. M., Montgomery, G. W., Henders, A. K., Kemp, J. P., Timpson, N. J., St Pourcain, B., Heath, A. C., Madden, P. A. F., Loesch, D. Z., McNevin, D., Daniel, R., Davey-Smith, G., Martin, N. G., & Medland, S. E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136(4), 859-862. doi:10.1016/j.jid.2015.10.062.
  • Evans, N., & Levinson, S. C. (2009). The myth of language universals: Language diversity and its importance for cognitive science. Behavioral and Brain Sciences, 32(5), 429-492. doi:10.1017/S0140525X0999094X.

    Abstract

    Talk of linguistic universals has given cognitive scientists the impression that languages are all built to a common pattern. In fact, there are vanishingly few universals of language in the direct sense that all languages exhibit them. Instead, diversity can be found at almost every level of linguistic organization. This fundamentally changes the object of enquiry from a cognitive science perspective. This target article summarizes decades of cross-linguistic work by typologists and descriptive linguists, showing just how few and unprofound the universal characteristics of language are, once we honestly confront the diversity offered to us by the world's 6,000 to 8,000 languages. After surveying the various uses of “universal,” we illustrate the ways languages vary radically in sound, meaning, and syntactic organization, and then we examine in more detail the core grammatical machinery of recursion, constituency, and grammatical relations. Although there are significant recurrent patterns in organization, these are better explained as stable engineering solutions satisfying multiple design constraints, reflecting both cultural-historical factors and the constraints of human cognition.
  • Evans, S., McGettigan, C., Agnew, Z., Rosen, S., Cesar, L., Boebinger, D., Ostarek, M., Chen, S. H., Richards, A., Meekins, S., & Scott, S. K. (2014). The neural basis of informational and energetic masking effects in the perception and production of speech [abstract]. The Journal of the Acoustical Society of America, 136(4), 2243. doi:10.1121/1.4900096.

    Abstract

    When we have spoken conversations, it is usually in the context of competing sounds within our environment. Speech can be masked by many different kinds of sounds, for example, machinery noise and the speech of others, and these different sounds place differing demands on cognitive resources. In this talk, I will present data from a series of functional magnetic resonance imaging (fMRI) studies in which the informational properties of background sounds have been manipulated to make them more or less similar to speech. I will demonstrate the neural effects associated with speaking over and listening to these sounds, and demonstrate how in perception these effects are modulated by the age of the listener. The results will be interpreted within a framework of auditory processing developed from primate neurophysiology and human functional imaging work (Rauschecker and Scott 2009).
  • Evans, N., & Levinson, S. C. (2009). With diversity in mind: Freeing the language sciences from universal grammar [Author's response]. Behavioral and Brain Sciences, 32(5), 472-484. doi:10.1017/S0140525X09990525.

    Abstract

    Our response takes advantage of the wide-ranging commentary to clarify some aspects of our original proposal and augment others. We argue against the generative critics of our coevolutionary program for the language sciences, defend the use of close-to-surface models as minimizing crosslinguistic data distortion, and stress the growing role of stochastic simulations in making generalized historical accounts testable. These methods lead the search for general principles away from idealized representations and towards selective processes. Putting cultural evolution central in understanding language diversity makes learning fundamental in the cognition of language: increasingly powerful models of general learning, paired with channelled caregiver input, seem set to manage language acquisition without recourse to any innate “universal grammar.” Understanding why human language has no clear parallels in the animal world requires a cross-species perspective: crucial ingredients are vocal learning (for which there are clear non-primate parallels) and an intentionattributing cognitive infrastructure that provides a universal base for language evolution. We conclude by situating linguistic diversity within a broader trend towards understanding human cognition through the study of variation in, for example, human genetics, neurocognition, and psycholinguistic processing.
  • Everaerd, D., Klumpers, F., Zwiers, M., Guadalupe, T., Franke, B., Van Oostrum, I., Schene, A., Fernandez, G., & Tendolkar, I. (2016). Childhood abuse and deprivation are associated with distinct sex-dependent differences in brain morphology. Neuropsychopharmacology, 41, 1716-1723. doi:10.1038/npp.2015.344.

    Abstract

    Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA
  • Everett, D., & Majid, A. (2009). Adventures in the jungle of language. [Interview by Asifa Majid and Jon Sutton.]. The Psychologist, 22(4), 312-313. Retrieved from http://www.thepsychologist.org.uk/archive/archive_home.cfm?volumeID=22&editionID=174&ArticleID=1494.

    Abstract

    Daniel Everett has spent his career in the Amazon, challenging some fundamental ideas about language and thought. Asifa Majid and Jon Sutton pose the questions
  • Everett, C., Blasi, D. E., & Roberts, S. G. (2016). Language evolution and climate: The case of desiccation and tone. Journal of Language Evolution, 1, 33-46. doi:10.1093/jole/lzv004.

    Abstract

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

    Abstract

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

    Additional information

    AppendixResponseToHammarstrom.pdf
  • Faller, M. (2002). The evidential and validational licensing conditions for the Cusco Quechua enclitic-mi. Belgian Journal of Linguistics, 16, 7-21. doi:10.1075/bjl.16.02fa.
  • Fan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y. and 17 moreFan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y., Ding, X., Wojciechowski, R., Young, T. L., Parssinen, O., Oexle, K., Pfeiffer, N., Bailey-Wilson, J. E., Paterson, A. D., Klaver, C. C. W., Plomin, R., Hammond, C. J., Mackey, D. A., He, M. G., Saw, S. M., Williams, C., Guggenheim, J. A., & Cream, C. (2016). Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Scientific Reports, 6: 25853. doi:10.1038/srep25853.

    Abstract

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

    Additional information

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

    Abstract

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

    Additional information

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  • Fawcett, C. A., & Markson, L. (2010). Children reason about shared preferences. Developmental Psychology, 46, 299-309. doi:10.1037/a0018539.

    Abstract

    Two-year-old children’s reasoning about the relation between their own and others’ preferences was investigated across two studies. In Experiment 1, children first observed 2 actors display their individual preferences for various toys. Children were then asked to make inferences about new, visually inaccessible toys and books that were described as being the favorite of each actor, unfamiliar to each actor, or disliked by each actor. Children tended to select the favorite toys and books from the actor who shared their own preference but chose randomly when the new items were unfamiliar to or disliked by the two actors. Experiment 2 extended these findings, showing that children do not generalize a shared preference across unrelated categories of items. Taken together, the results suggest that young children readily recognize when another person holds a preference similar to their own and use that knowledge appropriately to achieve desired outcomes.
  • Fawcett, C., & Markson, L. (2010). Similarity predicts liking in 3-year-old children. Journal of Experimental Child Psychology, 105, 345-358. doi:10.1016/j.jecp.2009.12.002.

    Abstract

    Two studies examined the influence of similarity on 3-year-old children’s initial liking of their peers. Children were presented with pairs of childlike puppets who were either similar or dissimilar to them on a specified dimension and then were asked to choose one of the puppets to play with as a measure of liking. Children selected the puppet whose food preferences or physical appearance matched their own. Unpacking the physical appearance finding revealed that the stable similarity of hair color may influence liking more strongly than the transient similarity of shirt color. A second study showed that children also prefer to play with a peer who shares their toy preferences, yet importantly, show no bias toward a peer who is similar on an arbitrary dimension. The findings provide insight into the earliest development of peer relations in young children.
  • Fedorenko, E., Morgan, A., Murray, E., Cardinaux, A., Mei, C., Tager-Flusberg, H., Fisher, S. E., & Kanwisher, N. (2016). A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. European Journal of Human Genetics, 24(2), 302-306. doi:10.1038/ejhg.2015.149.

    Abstract

    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
  • Fedorenko, E., Patel, A., Casasanto, D., Winawer, J., & Gibson, E. (2009). Structural integration in language and music: Evidence for a shared system. Memory & Cognition, 37, 1-9. doi:10.3758/MC.37.1.1.

    Abstract

    In this study, we investigate whether language and music share cognitive resources for structural processing. We report an experiment that used sung materials and manipulated linguistic complexity (subject-extracted relative clauses, object-extracted relative clauses) and musical complexity (in-key critical note, out-of-key critical note, auditory anomaly on the critical note involving a loudness increase). The auditory-anomaly manipulation was included in order to test whether the difference between in-key and out-of-key conditions might be due to any salient, unexpected acoustic event. The critical dependent measure involved comprehension accuracies to questions about the propositional content of the sentences asked at the end of each trial. The results revealed an interaction between linguistic and musical complexity such that the difference between the subject- and object-extracted relative clause conditions was larger in the out-of-key condition than in the in-key and auditory-anomaly conditions. These results provide evidence for an overlap in structural processing between language and music.
  • Felser, C., Roberts, L., Marinis, T., & Gross, R. (2003). The processing of ambiguous sentences by first and second language learners of English. Applied Psycholinguistics, 24(3), 453-489.

    Abstract

    This study investigates the way adult second language (L2) learners of English resolve relative clause attachment ambiguities in sentences such as The dean liked the secretary of the professor who was reading a letter. Two groups of advanced L2 learners of English with Greek or German as their first language participated in a set of off-line and on-line tasks. The results indicate that the L2 learners do not process ambiguous sentences of this type in the same way as adult native speakers of English do. Although the learners’ disambiguation preferences were influenced by lexical–semantic properties of the preposition linking the two potential antecedent noun phrases (of vs. with), there was no evidence that they applied any phrase structure–based ambiguity resolution strategies of the kind that have been claimed to influence sentence processing in monolingual adults. The L2 learners’ performance also differs markedly from the results obtained from 6- to 7-year-old monolingual English children in a parallel auditory study, in that the children’s attachment preferences were not affected by the type of preposition at all. We argue that children, monolingual adults, and adult L2 learners differ in the extent to which they are guided by phrase structure and lexical–semantic information during sentence processing.
  • Fenk, L. M., Heidlmayr, K., Lindner, P., & Schmid, A. (2010). Pupil Size in Spider Eyes Is Linked to Post-Ecdysal Lens Growth. PLoS One, 5(12): e15838. doi:10.1371/journal.pone.0015838.

    Abstract

    In this study we describe a distinctive pigment ring that appears in spider eyes after ecdysis and successively decreases in size in the days thereafter. Although pigment stops in spider eyes are well known, size variability is, to our knowledge, reported here for the first time. Representative species from three families (Ctenidae, Sparassidae and Lycosidae) are investigated and, for one of these species (Cupiennius salei, Ctenidae), the progressive increase in pupil diameter is monitored. In this species the pupil occupies only a fourth of the total projected lens surface after ecdysis and reaches its final size after approximately ten days. MicroCT images suggest that the decrease of the pigment ring is linked to the growth of the corneal lens after ecdysis. The pigment rings might improve vision in the immature eye by shielding light rays that would otherwise enter the eye via peripheral regions of the cornea, beside the growing crystalline lens.
  • Ferreri, L., & Verga, L. (2016). Benefits of music on verbal learning and memory: How and when does it work? Music Perception, 34(2), 167-182. doi:10.1525/mp.2016.34.2.167.

    Abstract

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

    Abstract

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

    Abstract

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

    Abstract

    This study investigates word-learning using a new experimental paradigm that integrates three processes: (a) extracting a word out of a continuous sound sequence, (b) inferring its referential meanings in context, (c) mapping the segmented word onto its broader intended referent, such as other objects of the same semantic category, and to novel utterances. Previous work has examined the role of statistical learning and/or of prosody in each of these processes separately. Here, we combine these strands of investigation into a single experimental approach, in which participants viewed a photograph belonging to one of three semantic categories while hearing a complex, five-word utterance containing a target word. Six between-subjects conditions were tested with 20 adult participants each. In condition 1, the only cue to word-meaning mapping was the co-occurrence of word and referents. This statistical cue was present in all conditions. In condition 2, the target word was sounded at a higher pitch. In condition 3, random words were sounded at a higher pitch, creating an inconsistent cue. In condition 4, the duration of the target word was lengthened. In conditions 5 and 6, an extraneous acoustic cue and a visual cue were associated with the target word, respectively. Performance in this word-learning task was significantly higher than that observed with simple co-occurrence only when pitch prominence consistently marked the target word. We discuss implications for the pragmatic value of pitch marking as well as the relevance of our findings to language acquisition and language evolution.
  • Fisher, S. E., Francks, C., McCracken, J. T., McGough, J. J., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Crawford, L. R., Palmer, C. G. S., Woodward, J. A., Del’Homme, M., Cantwell, D. P., Nelson, S. F., Monaco, A. P., & Smalley, S. L. (2002). A genomewide scan for loci involved in Attention-Deficit/Hyperactivity Disorder. American Journal of Human Genetics, 70(5), 1183-1196. doi:10.1086/340112.

    Abstract

    Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.
  • Fisher, S. E., Lai, C. S., & Monaco, a. A. P. (2003). Deciphering the genetic basis of speech and language disorders. Annual Review of Neuroscience, 26, 57-80. doi:10.1146/annurev.neuro.26.041002.131144.

    Abstract

    A significant number of individuals have unexplained difficulties with acquiring normal speech and language, despite adequate intelligence and environmental stimulation. Although developmental disorders of speech and language are heritable, the genetic basis is likely to involve several, possibly many, different risk factors. Investigations of a unique three-generation family showing monogenic inheritance of speech and language deficits led to the isolation of the first such gene on chromosome 7, which encodes a transcription factor known as FOXP2. Disruption of this gene causes a rare severe speech and language disorder but does not appear to be involved in more common forms of language impairment. Recent genome-wide scans have identified at least four chromosomal regions that may harbor genes influencing the latter, on chromosomes 2, 13, 16, and 19. The molecular genetic approach has potential for dissecting neurological pathways underlying speech and language disorders, but such investigations are only just beginning.
  • Fisher, S. E., & DeFries, J. C. (2002). Developmental dyslexia: Genetic dissection of a complex cognitive trait. Nature Reviews Neuroscience, 3, 767-780. doi:10.1038/nrn936.

    Abstract

    Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.
  • Fisher, S. E., & Scharff, C. (2009). FOXP2 as a molecular window into speech and language [Review article]. Trends in Genetics, 25, 166-177. doi:10.1016/j.tig.2009.03.002.

    Abstract

    Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expression in different vertebrates facilitates the use of animal models to study ancestral pathways that have been recruited towards human speech and language. Intriguingly, reduced FoxP2 dosage yields abnormal synaptic plasticity and impaired motor-skill learning in mice, and disrupts vocal learning in songbirds. Converging data indicate that Foxp2 is important for modulating the plasticity of relevant neural circuits. This body of research represents the first functional genetic forays into neural mechanisms contributing to human spoken language.
  • Fisher, S. E. (2010). Genetic susceptibility to stuttering [Editorial]. New England Journal of Medicine, 362, 750-752. doi:10.1056/NEJMe0912594.
  • Fisher, S. E., Francks, C., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Cardon, L. R., Ishikawa-Brush, Y., Richardson, A. J., Talcott, J. B., Gayán, J., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2002). Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature Genetics, 30(1), 86-91. doi:10.1038/ng792.

    Abstract

    Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established that dyslexia is a significantly heritable trait with a neurobiological basis. The etiological mechanisms remain elusive, however, despite being the focus of intensive multidisciplinary research. All attempts to map quantitative-trait loci (QTLs) influencing dyslexia susceptibility have targeted specific chromosomal regions, so that inferences regarding genetic etiology have been made on the basis of very limited information. Here we present the first two complete QTL-based genome-wide scans for this trait, in large samples of families from the United Kingdom and United States. Using single-point analysis, linkage to marker D18S53 was independently identified as being one of the most significant results of the genome in each scan (P< or =0.0004 for single word-reading ability in each family sample). Multipoint analysis gave increased evidence of 18p11.2 linkage for single-word reading, yielding top empirical P values of 0.00001 (UK) and 0.0004 (US). Measures related to phonological and orthographic processing also showed linkage at this locus. We replicated linkage to 18p11.2 in a third independent sample of families (from the UK), in which the strongest evidence came from a phoneme-awareness measure (most significant P value=0.00004). A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This is the first report of QTL-based genome-wide scanning for a human cognitive trait.
  • 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.
  • FitzPatrick, I., & Indefrey, P. (2016). Accessing Conceptual Representations for Speaking [Editorial]. Frontiers in Psychology, 7: 1216. doi:10.3389/fpsyg.2016.01216.

    Abstract

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

    Abstract

    In this study we investigated the availability of non-target language semantic features in bilingual speech processing. We recorded EEG from Dutch-English bilinguals who listened to spoken sentences in their L2 (English) or L1 (Dutch). In Experiments 1 and 3 the sentences contained an interlingual homophone. The sentence context was either biased towards the target language meaning of the homophone (target biased), the non-target language meaning (non-target biased), or neither meaning of the homophone (fully incongruent). These conditions were each compared to a semantically congruent control condition. In L2 sentences we observed an N400 in the non-target biased condition that had an earlier offset than the N400 to fully incongruent homophones. In the target biased condition, a negativity emerged that was later than the N400 to fully incongruent homophones. In L1 contexts, neither target biased nor non-target biased homophones yielded significant N400 effects (compared to the control condition). In Experiments 2 and 4 the sentences contained a language switch to a non-target language word that could be semantically congruent or incongruent. Semantically incongruent words (switched, and non-switched) elicited an N400 effect. The N400 to semantically congruent language-switched words had an earlier offset than the N400 to incongruent words. Both congruent and incongruent language switches elicited a Late Positive Component (LPC). These findings show that bilinguals activate both meanings of interlingual homophones irrespective of their contextual fit. In L2 contexts, the target-language meaning of the homophone has a head start over the non-target language meaning. The target-language head start is also evident for language switches from both L2-to-L1 and L1-to-L2
  • FitzPatrick, I., & Indefrey, P. (2010). Lexical competition in nonnative speech comprehension. Journal of Cognitive Neuroscience, 22, 1165-1178. doi:10.1162/jocn.2009.21301.

    Abstract

    Electrophysiological studies consistently find N400 effects of semantic incongruity in nonnative (L2) language comprehension. These N400 effects are often delayed compared with native (L1) comprehension, suggesting that semantic integration in one's second language occurs later than in one's first language. In this study, we investigated whether such a delay could be attributed to (1) intralingual lexical competition and/or (2) interlingual lexical competition. We recorded EEG from Dutch–English bilinguals who listened to English (L2) sentences in which the sentence-final word was (a) semantically fitting and (b) semantically incongruent or semantically incongruent but initially congruent due to sharing initial phonemes with (c) the most probable sentence completion within the L2 or (d) 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 but not to L1 translation equivalents that were initially congruent with the sentence context. Taken together, these findings firstly demonstrate that semantic integration in nonnative listening can start based on word initial phonemes (i.e., before a single lexical candidate could have been selected based on the input) and secondly suggest that spuriously elicited L1 lexical candidates are not available for semantic integration in L2 speech comprehension.
  • Flecken, M., von Stutterheim, C., & Carroll, M. (2014). Grammatical aspect influences motion event perception: Evidence from a cross-linguistic non-verbal recognition task. Language and Cognition, 6(1), 45-78. doi:10.1017/langcog.2013.2.

    Abstract

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

    Abstract

    From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.
  • Floyd, S., 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.
  • Folia, V., Uddén, J., De Vries, M., Forkstam, C., & Petersson, K. M. (2010). Artificial language learning in adults and children. Language learning, 60(s2), 188-220. doi:10.1111/j.1467-9922.2010.00606.x.

    Abstract

    This article briefly reviews some recent work on artificial language learning in children and adults. The final part of the article is devoted to a theoretical formulation of the language learning problem from a mechanistic neurobiological viewpoint and we show that it is logically possible to combine the notion of innate language constraints with, for example, the notion of domain general learning mechanisms. A growing body of empirical evidence suggests that the mechanisms involved in artificial language learning and in structured sequence processing are shared with those of natural language acquisition and natural language processing. Finally, by theoretically analyzing a formal learning model, we highlight Fodor’s insight that it is logically possible to combine innate, domain-specific constraints with domain-general learning mechanisms.
  • Folia, V., & Petersson, K. M. (2014). Implicit structured sequence learning: An fMRI study of the structural mere-exposure effect. Frontiers in Psychology, 5: 41. doi:10.3389/fpsyg.2014.00041.

    Abstract

    In this event-related FMRI study we investigated the effect of five days of implicit acquisition on preference classification by means of an artificial grammar learning (AGL) paradigm based on the structural mere-exposure effect and preference classification using a simple right-linear unification grammar. This allowed us to investigate implicit AGL in a proper learning design by including baseline measurements prior to grammar exposure. After 5 days of implicit acquisition, the FMRI results showed activations in a network of brain regions including the inferior frontal (centered on BA 44/45) and the medial prefrontal regions (centered on BA 8/32). Importantly, and central to this study, the inclusion of a naive preference FMRI baseline measurement allowed us to conclude that these FMRI findings were the intrinsic outcomes of the learning process itself and not a reflection of a preexisting functionality recruited during classification, independent of acquisition. Support for the implicit nature of the knowledge utilized during preference classification on day 5 come from the fact that the basal ganglia, associated with implicit procedural learning, were activated during classification, while the medial temporal lobe system, associated with explicit declarative memory, was consistently deactivated. Thus, preference classification in combination with structural mere-exposure can be used to investigate structural sequence processing (syntax) in unsupervised AGL paradigms with proper learning designs.
  • Forkel, S. J., Thiebaut de Schotten, M., Dell’Acqua, F., Kalra, L., Murphy, D. G. M., Williams, S. C. R., & Catani, M. (2014). Anatomical predictors of aphasia recovery: a tractography study of bilateral perisylvian language networks. Brain, 137, 2027-2039. doi:10.1093/brain/awu113.

    Abstract

    Stroke-induced aphasia is associated with adverse effects on quality of life and the ability to return to work. For patients and clinicians the possibility of relying on valid predictors of recovery is an important asset in the clinical management of stroke-related impairment. Age, level of education, type and severity of initial symptoms are established predictors of recovery. However, anatomical predictors are still poorly understood. In this prospective longitudinal study, we intended to assess anatomical predictors of recovery derived from diffusion tractography of the perisylvian language networks. Our study focused on the arcuate fasciculus, a language pathway composed of three segments connecting Wernicke’s to Broca’s region (i.e. long segment), Wernicke’s to Geschwind’s region (i.e. posterior segment) and Broca’s to Geschwind’s region (i.e. anterior segment). In our study we were particularly interested in understanding how lateralization of the arcuate fasciculus impacts on severity of symptoms and their recovery. Sixteen patients (10 males; mean age 60 ± 17 years, range 28–87 years) underwent post stroke language assessment with the Revised Western Aphasia Battery and neuroimaging scanning within a fortnight from symptoms onset. Language assessment was repeated at 6 months. Backward elimination analysis identified a subset of predictor variables (age, sex, lesion size) to be introduced to further regression analyses. A hierarchical regression was conducted with the longitudinal aphasia severity as the dependent variable. The first model included the subset of variables as previously defined. The second model additionally introduced the left and right arcuate fasciculus (separate analysis for each segment). Lesion size was identified as the only independent predictor of longitudinal aphasia severity in the left hemisphere [beta = −0.630, t(−3.129), P = 0.011]. For the right hemisphere, age [beta = −0.678, t(–3.087), P = 0.010] and volume of the long segment of the arcuate fasciculus [beta = 0.730, t(2.732), P = 0.020] were predictors of longitudinal aphasia severity. Adding the volume of the right long segment to the first-level model increased the overall predictive power of the model from 28% to 57% [F(1,11) = 7.46, P = 0.02]. These findings suggest that different predictors of recovery are at play in the left and right hemisphere. The right hemisphere language network seems to be important in aphasia recovery after left hemispheric stroke.

    Additional information

    supplementary information
  • Forkel, S. J., Thiebaut de Schotten, M., Kawadler, J. M., Dell'Acqua, F., Danek, A., & Catani, M. (2014). The anatomy of fronto-occipital connections from early blunt dissections to contemporary tractography. Cortex, 56, 73-84. doi:10.1016/j.cortex.2012.09.005.

    Abstract

    The occipital and frontal lobes are anatomically distant yet functionally highly integrated to generate some of the most complex behaviour. A series of long associative fibres, such as the fronto-occipital networks, mediate this integration via rapid feed-forward propagation of visual input to anterior frontal regions and direct top–down modulation of early visual processing.

    Despite the vast number of anatomical investigations a general consensus on the anatomy of fronto-occipital connections is not forthcoming. For example, in the monkey the existence of a human equivalent of the ‘inferior fronto-occipital fasciculus’ (iFOF) has not been demonstrated. Conversely, a ‘superior fronto-occipital fasciculus’ (sFOF), also referred to as ‘subcallosal bundle’ by some authors, is reported in monkey axonal tracing studies but not in human dissections.

    In this study our aim is twofold. First, we use diffusion tractography to delineate the in vivo anatomy of the sFOF and the iFOF in 30 healthy subjects and three acallosal brains. Second, we provide a comprehensive review of the post-mortem and neuroimaging studies of the fronto-occipital connections published over the last two centuries, together with the first integral translation of Onufrowicz's original description of a human fronto-occipital fasciculus (1887) and Muratoff's report of the ‘subcallosal bundle’ in animals (1893).

    Our tractography dissections suggest that in the human brain (i) the iFOF is a bilateral association pathway connecting ventro-medial occipital cortex to orbital and polar frontal cortex, (ii) the sFOF overlaps with branches of the superior longitudinal fasciculus (SLF) and probably represents an ‘occipital extension’ of the SLF, (iii) the subcallosal bundle of Muratoff is probably a complex tract encompassing ascending thalamo-frontal and descending fronto-caudate connections and is therefore a projection rather than an associative tract.

    In conclusion, our experimental findings and review of the literature suggest that a ventral pathway in humans, namely the iFOF, mediates a direct communication between occipital and frontal lobes. Whether the iFOF represents a unique human pathway awaits further ad hoc investigations in animals.
  • Fortunato, L., & Jordan, F. (2010). Your place or mine? A phylogenetic comparative analysis of marital residence in Indo-European and Austronesian societies. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 365(1559), 3913 -3922. doi:10.1098/rstb.2010.0017.

    Abstract

    Accurate reconstruction of prehistoric social organization is important if we are to put together satisfactory multidisciplinary scenarios about, for example, the dispersal of human groups. Such considerations apply in the case of Indo-European and Austronesian, two large-scale language families that are thought to represent Neolithic expansions. Ancestral kinship patterns have mostly been inferred through reconstruction of kin terminologies in ancestral proto-languages using the linguistic comparative method, and through geographical or distributional arguments based on the comparative patterns of kin terms and ethnographic kinship ‘facts’. While these approaches are detailed and valuable, the processes through which conclusions have been drawn from the data fail to provide explicit criteria for systematic testing of alternative hypotheses. Here, we use language trees derived using phylogenetic tree-building techniques on Indo-European and Austronesian vocabulary data. With these trees, ethnographic data and Bayesian phylogenetic comparative methods, we statistically reconstruct past marital residence and infer rates of cultural change between different residence forms, showing Proto-Indo-European to be virilocal and Proto-Malayo-Polynesian uxorilocal. The instability of uxorilocality and the rare loss of virilocality once gained emerge as common features of both families
  • Fournier, R., Gussenhoven, C., Jensen, O., & Hagoort, P. (2010). Lateralization of tonal and intonational pitch processing: An MEG study. Brain Research, 1328, 79-88. doi:10.1016/j.brainres.2010.02.053.

    Abstract

    An MEG experiment was carried out in order to compare the processing of lexical-tonal and intonational contrasts, based on the tonal dialect of Roermond (the Netherlands). A set of words with identical phoneme sequences but distinct pitch contours, which represented different lexical meanings or discourse meanings (statement vs. question), were presented to native speakers as well as to a control group of speakers of Standard Dutch, a non-tone language. The stimuli were arranged in a mismatch paradigm, under three experimental conditions: in the first condition (lexical), the pitch contour differences between standard and deviant stimuli reflected differences between lexical meanings; in the second condition (intonational), the stimuli differed in their discourse meaning; in the third condition (combined), they differed both in their lexical and discourse meaning. In all three conditions, native as well as non-native responses showed a clear MMNm (magnetic mismatch negativity) in a time window from 150 to 250 ms after the divergence point of standard and deviant pitch contours. In the lexical condition, a stronger response was found over the left temporal cortex of native as well as non-native speakers. In the intonational condition, the same activation pattern was observed in the control group, but not in the group of native speakers, who showed a right-hemisphere dominance instead. Finally, in the combined (lexical and intonational) condition, brain reactions appeared to represent the summation of the patterns found in the other two conditions. In sum, the lateralization of pitch processing is condition-dependent in the native group only, which suggests that language experience determines how processes should be distributed over both temporal cortices, according to the functions available in the grammar.
  • Francks, C., Fisher, S. E., MacPhie, I. L., Richardson, A. J., Marlow, A. J., Stein, J. F., & Monaco, A. P. (2002). A genomewide linkage screen for relative hand skill in sibling pairs. American Journal of Human Genetics, 70(3), 800-805. doi:10.1086/339249.

    Abstract

    Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.
  • Francks, C., Fisher, S. E., J.Marlow, A., J.Richardson, A., Stein, J. F., & Monaco, A. (2000). A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability. Prostaglandins, Leukotrienes and Essential Fatty Acids, 63(1-2), 27-31. doi:10.1054/plef.2000.0187.

    Abstract

    Family and twin studies consistently demonstrate a significant role for genetic factors in the aetiology of the reading disorder dyslexia. However, dyslexia is complex at both the genetic and phenotypic levels, and currently the nature of the core deficit or deficits remains uncertain. Traditional approaches for mapping disease genes, originally developed for single-gene disorders, have limited success when there is not a simple relationship between genotype and phenotype. Recent advances in high-throughput genotyping technology and quantitative statistical methods have made a new approach to identifying genes involved in complex disorders possible. The method involves assessing the genetic similarity of many sibling pairs along the lengths of all their chromosomes and attempting to correlate this similarity with that of their phenotypic scores. We are adopting this approach in an ongoing genome-wide search for genes involved in dyslexia susceptibility, and have already successfully applied the method by replicating results from previous studies suggesting that a quantitative trait locus at 6p21.3 influences reading disability.
  • Francks, C., DeLisi, L. E., Fisher, S. E., Laval, S. H., Rue, J. E., Stein, J. F., & Monaco, A. P. (2003). Confirmatory evidence for linkage of relative hand skill to 2p12-q11 [Letter to the editor]. American Journal of Human Genetics, 72(2), 499-502. doi:10.1086/367548.
  • Francks, C., Paracchini, S., Smith, S. D., Richardson, A. J., Scerri, T. S., Cardon, L. R., Marlow, A. J., MacPhie, I. L., Walter, J., Pennington, B. F., Fisher, S. E., Olson, R. K., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2004). A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. American Journal of Human Genetics, 75(6), 1046-1058. doi:10.1086/426404.

    Abstract

    Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319. The region of association is also directly upstream of a third gene, THEM2. We found evidence of these associations in a second sample of siblings from the United Kingdom, as well as in an independent sample of twin-based sibships from Colorado. One main RD risk haplotype that has a frequency of ∼12% was found in both the U.K. and U.S. samples. The haplotype is not distinguished by any protein-coding polymorphisms, and, therefore, the functional variation may relate to gene expression. The QTL influences a broad range of reading-related cognitive abilities but has no significant impact on general cognitive performance in these samples. In addition, the QTL effect may be largely limited to the severe range of reading disability.
  • Francks, C., Fisher, S. E., Marlow, A. J., MacPhie, I. L., Taylor, K. E., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2003). Familial and genetic effects on motor coordination, laterality, and reading-related cognition. American Journal of Psychiatry, 160(11), 1970-1977. doi:10.1176/appi.ajp.160.11.1970.

    Abstract

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

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

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

    CONCLUSIONS: The authors confirmed a relationship between lower motor ability and poor reading performance. However, the genetic effects on motor skill and reading ability appeared to be largely or wholly distinct, suggesting that the correlation between these traits may have arisen from environmental influences. Finally, the authors found no evidence that reading disability and/or low general cognitive ability were associated with ambidexterity.
  • Francks, C., Fisher, S. E., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., & Monaco, A. P. (2002). Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: Quantitative association analysis and positional candidate genes SEMA4F and OTX1. Psychiatric Genetics, 12(1), 35-41.

    Abstract

    A locus on chromosome 2p12-16 has been implicated in dyslexia susceptibility by two independent linkage studies, including our own study of 119 nuclear twin-based families, each with at least one reading-disabled child. Nonetheless, no variant of any gene has been reported to show association with dyslexia, and no consistent clinical evidence exists to identify candidate genes with any strong a priori logic. We used 21 microsatellite markers spanning 2p12-16 to refine our 1-LOD unit linkage support interval to 12cM between D2S337 and D2S286. Then, in quantitative association analysis, two microsatellites yielded P values<0.05 across a range of reading-related measures (D2S2378 and D2S2114). The exon/intron borders of two positional candidate genes within the region were characterized, and the exons were screened for polymorphisms. The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development. Two non-synonymous single nucleotide polymorphisms were found in SEMA4F, each with a heterozygosity of 0.03. One intronic single nucleotide polymorphism between exons 12 and 13 of SEMA4F was tested for quantitative association, but no significant association was found. Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent. Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics.
  • Francks, C., DeLisi, L. E., Shaw, S. H., Fisher, S. E., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2003). Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11. Human Molecular Genetics, 12(24), 3225-3230. doi:10.1093/hmg/ddg362.

    Abstract

    Schizophrenia and non-right-handedness are moderately associated, and both traits are often accompanied by abnormalities of asymmetrical brain morphology or function. We have found linkage previously of chromosome 2p12-q11 to a quantitative measure of handedness, and we have also found linkage of schizophrenia/schizoaffective disorder to this same chromosomal region in a separate study. Now, we have found that in one of our samples (191 reading-disabled sibling pairs), the relative hand skill of siblings was correlated more strongly with paternal than maternal relative hand skill. This led us to re-analyse 2p12-q11 under parent-of-origin linkage models. We found linkage of relative hand skill in the RD siblings to 2p12-q11 with P=0.0000037 for paternal identity-by-descent sharing, whereas the maternally inherited locus was not linked to the trait (P>0.2). Similarly, in affected-sib-pair analysis of our schizophrenia dataset (241 sibling pairs), we found linkage to schizophrenia for paternal sharing with LOD=4.72, P=0.0000016, within 3 cM of the peak linkage to relative hand skill. Maternal linkage across the region was weak or non-significant. These similar paternal-specific linkages suggest that the causative genetic effects on 2p12-q11 are related. The linkages may be due to a single maternally imprinted influence on lateralized brain development that contains common functional polymorphisms.
  • Francks, C., Tozzi, F., Farmer, A., Vincent, J. B., Rujescu, D., St Clair, D., & Muglia, P. (2010). Population-based linkage analysis of schizophrenia and bipolar case-control cohorts identifies a potential susceptibility locus on 19q13. Molecular Psychiatry, 15, 319-325. doi:10.1038/mp.2008.100.

    Abstract

    Population-based linkage analysis is a new method for analysing genomewide single nucleotide polymorphism (SNP) genotype data in case-control samples, which does not assume a common disease, common variant model. The genome is scanned for extended segments that show increased identity-by-descent sharing within case-case pairs, relative to case-control or control-control pairs. The method is robust to allelic heterogeneity and is suited to mapping genes which contain multiple, rare susceptibility variants of relatively high penetrance. We analysed genomewide SNP datasets for two schizophrenia case-control cohorts, collected in Aberdeen (461 cases, 459 controls) and Munich (429 cases, 428 controls). Population-based linkage testing must be performed within homogeneous samples and it was therefore necessary to analyse the cohorts separately. Each cohort was first subjected to several procedures to improve genetic homogeneity, including identity-by-state outlier detection and multidimensional scaling analysis. When testing only cases who reported a positive family history of major psychiatric disease, consistent with a model of strongly penetrant susceptibility alleles, we saw a distinct peak on chromosome 19q in both cohorts that appeared in meta-analysis (P=0.000016) to surpass the traditional level for genomewide significance for complex trait linkage. The linkage signal was also present in a third case-control sample for familial bipolar disorder, such that meta-analysing all three datasets together yielded a linkage P=0.0000026. A model of rare but highly penetrant disease alleles may be more applicable to some instances of major psychiatric diseases than the common disease common variant model, and we therefore suggest that other genome scan datasets are analysed with this new, complementary method.
  • Francks, C., MacPhie, I. L., & Monaco, A. P. (2002). The genetic basis of dyslexia. The Lancet Neurology, 1(8), 483-490. doi:10.1016/S1474-4422(02)00221-1.

    Abstract

    Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.
  • Francks, C. (2009). Understanding the genetics of behavioural and psychiatric traits will only be achieved through a realistic assessment of their complexity. Laterality: Asymmetries of Body, Brain and Cognition, 14(1), 11-16. doi:10.1080/13576500802536439.

    Abstract

    Francks et al. (2007) performed a recent study in which the first putative genetic effect on human handedness was identified (the imprinted locus LRRTM1 on human chromosome 2). In this issue of Laterality, Tim Crow and colleagues present a critique of that study. The present paper presents a personal response to that critique which argues that Francks et al. (2007) published a substantial body of evidence implicating LRRTM1 in handedness and schizophrenia. Progress will now be achieved by others trying to validate, refute, or extend those findings, rather than by further armchair discussion.
  • Frank, S. L., Koppen, M., Noordman, L. G. M., & Vonk, W. (2003). Modeling knowledge-based inferences in story comprehension. Cognitive Science, 27(6), 875-910. doi:10.1016/j.cogsci.2003.07.002.

    Abstract

    A computational model of inference during story comprehension is presented, in which story situations are represented distributively as points in a high-dimensional “situation-state space.” This state space organizes itself on the basis of a constructed microworld description. From the same description, causal/temporal world knowledge is extracted. The distributed representation of story situations is more flexible than Golden and Rumelhart’s [Discourse Proc 16 (1993) 203] localist representation. A story taking place in the microworld corresponds to a trajectory through situation-state space. During the inference process, world knowledge is applied to the story trajectory. This results in an adjusted trajectory, reflecting the inference of propositions that are likely to be the case. Although inferences do not result from a search for coherence, they do cause story coherence to increase. The results of simulations correspond to empirical data concerning inference, reading time, and depth of processing. An extension of the model for simulating story retention shows how coherence is preserved during retention without controlling the retention process. Simulation results correspond to empirical data concerning story recall and intrusion.
  • Frank, S. L., & 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
  • Franke, B., Vasquez, A. A., Johansson, S., Hoogman, M., Romanos, J., Boreatti-Hümmer, A., Heine, M., Jacob, C. P., Lesch, K.-P., Casas, M., Ribasés, M., Bosch, R., Sánchez-Mora, C., Gómez-Barros, N., Fernàndez-Castillo, N., Bayés, M., Halmøy, A., Halleland, H., Landaas, E. T., Fasmer, O. B. and 13 moreFranke, B., Vasquez, A. A., Johansson, S., Hoogman, M., Romanos, J., Boreatti-Hümmer, A., Heine, M., Jacob, C. P., Lesch, K.-P., Casas, M., Ribasés, M., Bosch, R., Sánchez-Mora, C., Gómez-Barros, N., Fernàndez-Castillo, N., Bayés, M., Halmøy, A., Halleland, H., Landaas, E. T., Fasmer, O. B., Knappskog, P. M., Heister, A. J. G. A. M., Kiemeney, L. A., Kooij, J. J. S., Boonstra, A. M., Kan, C. C., Asherson, P., Faraone, S. V., Buitelaar, J. K., Haavik, J., Cormand, B., Ramos-Quiroga, J. A., & Reif, A. (2010). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology, 35(3), 656-664. doi:10.1038/npp.2009.170.

    Abstract

    Attention deficit/hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders with a worldwide prevalence around 4–5% in children and 1–4% in adults. Although ADHD is highly heritable and familial risk may contribute most strongly to the persistent form of the disorder, there are few studies on the genetics of ADHD in adults. In this paper, we present the first results of the International Multicentre Persistent ADHD Genetics CollaboraTion (IMpACT) that has been set up with the goal of performing research into the genetics of persistent ADHD. In this study, we carried out a combined analysis as well as a meta-analysis of the association of the SLC6A3/DAT1 gene with persistent ADHD in 1440 patients and 1769 controls from IMpACT and an earlier report. DAT1, encoding the dopamine transporter, is one of the most frequently studied genes in ADHD, though results have been inconsistent. A variable number tandem repeat polymorphism (VNTR) in the 3′-untranslated region (UTR) of the gene and, more recently, a haplotype of this VNTR with another VNTR in intron 8 have been the target of most studies. Although the 10/10 genotype of the 3′-UTR VNTR and the 10-6 haplotype of the two VNTRs are thought to be risk factors for ADHD in children, we found the 9/9 genotype and the 9-6 haplotype associated with persistent ADHD. In conclusion, a differential association of DAT1 with ADHD in children and in adults might help explain the inconsistencies observed in earlier association studies. However, the data might also imply that DAT1 has a modulatory rather than causative role in ADHD.
  • Fransson, P., Merboldt, K.-D., Petersson, K. M., Ingvar, M., & Frahm, J. (2002). On the effects of spatial filtering — A comparative fMRI study of episodic memory encoding at high and low resolution. NeuroImage, 16(4), 977-984. doi:10.1006/nimg.2002.1079.

    Abstract

    Theeffects of spatial filtering in functional magnetic resonance imaging were investigated by reevaluating the data of a previous study of episodic memory encoding at 2 × 2 × 4-mm3 resolution with use of a SPM99 analysis involving a Gaussian kernel of 8-mm full width at half maximum. In addition, a multisubject analysis of activated regions was performed by normalizing the functional images to an approximate Talairach brain atlas. In individual subjects, spatial filtering merged activations in anatomically separated brain regions. Moreover, small foci of activated pixels which originated from veins became blurred and hence indistinguishable from parenchymal responses. The multisubject analysis resulted in activation of the hippocampus proper, a finding which could not be confirmed by the activation maps obtained at high resolution. It is concluded that the validity of multisubject fMRI analyses can be considerably improved by first analyzing individual data sets at optimum resolution to assess the effects of spatial filtering and minimize the risk of signal contamination by macroscopically visible vessels.
  • Freathy, R. M., Mook-Kanamori, D. O., Sovio, U., Prokopenko, I., Timpson, N. J., Berry, D. J., Warrington, N. M., Widen, E., Hottenga, J. J., Kaakinen, M., Lange, L. A., Bradfield, J. P., Kerkhof, M., Marsh, J. A., Mägi, R., Chen, C.-M., Lyon, H. N., Kirin, M., Adair, L. S., Aulchenko, Y. S. and 64 moreFreathy, R. M., Mook-Kanamori, D. O., Sovio, U., Prokopenko, I., Timpson, N. J., Berry, D. J., Warrington, N. M., Widen, E., Hottenga, J. J., Kaakinen, M., Lange, L. A., Bradfield, J. P., Kerkhof, M., Marsh, J. A., Mägi, R., Chen, C.-M., Lyon, H. N., Kirin, M., Adair, L. S., Aulchenko, Y. S., Bennett, A. J., Borja, J. B., Bouatia-Naji, N., Charoen, P., Coin, L. J. M., Cousminer, D. L., de Geus, E. J. C., Deloukas, P., Elliott, P., Evans, D. M., Froguel, P., Glaser, B., Groves, C. J., Hartikainen, A.-L., Hassanali, N., Hirschhorn, J. N., Hofman, A., Holly, J. M. P., Hyppönen, E., Kanoni, S., Knight, B. A., Laitinen, J., Lindgren, C. M., McArdle, W. L., O'Reilly, P. F., Pennell, C. E., Postma, D. S., Pouta, A., Ramasamy, A., Rayner, N. W., Ring, S. M., Rivadeneira, F., Shields, B. M., Strachan, D. P., Surakka, I., Taanila, A., Tiesler, C., Uitterlinden, A. G., van Duijn, C. M., Wijga, A. H., Willemsen, G., Zhang, H., Zhao, J., Wilson, J. F., Steegers, E. A. P., Hattersley, A. T., Eriksson, J. G., Peltonen, L., Mohlke, K. L., Grant, S. F. A., Hakonarson, H., Koppelman, G. H., Dedoussis, G. V., Heinrich, J., Gillman, M. W., Palmer, L. J., Frayling, T. M., Boomsma, D. I., Davey Smith, G., Power, C., Jaddoe, V. W. V., Jarvelin, M.-R., McCarthy, M. I., The Genetic Investigation of ANthropometric Traits (GIANT) Consortium, The Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC), The Wellcome Trust Case Control Consortium (WTCCC), & the Early Growth Genetics (EGG) Consortium (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nature Genetics, 42(5), 430-435. doi:10.1038/ng.567.

    Abstract

    To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.
  • French, C. A., & Fisher, S. E. (2014). What can mice tell us about Foxp2 function? Current Opinion in Neurobiology, 28, 72-79. doi:10.1016/j.conb.2014.07.003.

    Abstract

    Disruptions of the FOXP2 gene cause a rare speech and language disorder, a discovery that has opened up novel avenues for investigating the relevant neural pathways. FOXP2 shows remarkably high conservation of sequence and neural expression in diverse vertebrates, suggesting that studies in other species are useful in elucidating its functions. Here we describe how investigations of mice that carry disruptions of Foxp2 provide insights at multiple levels: molecules, cells, circuits and behaviour. Work thus far has implicated the gene in key processes including neurite outgrowth, synaptic plasticity, sensorimotor integration and motor-skill learning.
  • 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.
  • Friedlaender, J., Hunley, K., Dunn, M., Terrill, A., Lindström, E., Reesink, G., & Friedlaender, F. (2009). Linguistics more robust than genetics [Letter to the editor]. Science, 324, 464-465. doi:10.1126/science.324_464c.
  • 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.
  • Fuhrmann, D., Ravignani, A., Marshall-Pescini, S., & Whiten, A. (2014). Synchrony and motor mimicking in chimpanzee observational learning. Scientific Reports, 4: 5283. doi:10.1038/srep05283.

    Abstract

    Cumulative tool-based culture underwrote our species' evolutionary success and tool-based nut-cracking is one of the strongest candidates for cultural transmission in our closest relatives, chimpanzees. However the social learning processes that may explain both the similarities and differences between the species remain unclear. A previous study of nut-cracking by initially naïve chimpanzees suggested that a learning chimpanzee holding no hammer nevertheless replicated hammering actions it witnessed. This observation has potentially important implications for the nature of the social learning processes and underlying motor coding involved. In the present study, model and observer actions were quantified frame-by-frame and analysed with stringent statistical methods, demonstrating synchrony between the observer's and model's movements, cross-correlation of these movements above chance level and a unidirectional transmission process from model to observer. These results provide the first quantitative evidence for motor mimicking underlain by motor coding in apes, with implications for mirror neuron function.

    Additional information

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  • Furman, R., Kuntay, A., & Ozyurek, A. (2014). Early language-specificity of children's event encoding in speech and gesture: Evidence from caused motion in Turkish. Language, Cognition and Neuroscience, 29, 620-634. doi:10.1080/01690965.2013.824993.

    Abstract

    Previous research on language development shows that children are tuned early on to the language-specific semantic and syntactic encoding of events in their native language. Here we ask whether language-specificity is also evident in children's early representations in gesture accompanying speech. In a longitudinal study, we examined the spontaneous speech and cospeech gestures of eight Turkish-speaking children aged one to three and focused on their caused motion event expressions. In Turkish, unlike in English, the main semantic elements of caused motion such as Action and Path can be encoded in the verb (e.g. sok- ‘put in’) and the arguments of a verb can be easily omitted. We found that Turkish-speaking children's speech indeed displayed these language-specific features and focused on verbs to encode caused motion. More interestingly, we found that their early gestures also manifested specificity. Children used iconic cospeech gestures (from 19 months onwards) as often as pointing gestures and represented semantic elements such as Action with Figure and/or Path that reinforced or supplemented speech in language-specific ways until the age of three. In the light of previous reports on the scarcity of iconic gestures in English-speaking children's early productions, we argue that the language children learn shapes gestures and how they get integrated with speech in the first three years of life.
  • Gaby, A. R. (2004). Extended functions of Thaayorre body part terms. Papers in Linguistics and Applied Linguistics, 4(2), 24-34.
  • Ganushchak, L. Y., Krott, A., & Meyer, A. S. (2010). Electroencephalographic responses to SMS shortcuts. Brain Research, 1348, 120-127. doi:10.1016/j.brainres.2010.06.026.

    Abstract

    As the popularity of sending messages electronically increases, so does the necessity of conveying messages more efficiently. One way of increasing efficiency is to abbreviate words and expressions by combining letters with numbers such as gr8 for “great,” using acronyms, such as lol for “laughing out loud,” or clippings such as msg for “message.” The present study compares the processing of shortcuts to the processing of closely matched pseudo-shortcuts. ERPs were recorded while participants were performing a lexical decision task. Response times showed that shortcuts were categorized more slowly as nonwords than pseudo-shortcuts. The ERP results showed no differences between shortcuts and pseudo-shortcuts at time windows 50–150 ms and 150–270 ms, but there were significant differences between 270 and 500 ms. These results suggest that at early stages of word recognition, the orthographic and phonological processing is similar for shortcuts and pseudo-shortcuts. However, at the time of lexical access, shortcuts diverge from pseudo-shortcuts, suggesting that shortcuts activate stored lexical representations.
  • Ganushchak, L. Y., & Schiller, N. O. (2010). Detection of speech errors in the speech of others: An ERP study. NeuroImage, 49, 3331-3337. doi:10.1016/j.neuroimage.2009.11.063.

    Abstract

    The current event-related brain potential study examined the processing of observed speech errors.
    Participants were asked to detect errors in the speech of others while listening to the description of a visual
    network. Networks consisted of colored drawings of objects connected by straight or curved lines. We
    investigated the processing of two types of errors in the network descriptions, i.e., incorrect color and errors
    in determiners usage (gender agreement violations). In the 100- to 300-ms and 300- to 550-ms time
    windows, we found larger PMN and N400 amplitudes for both color and determiner error trials compared to
    correct trials. Furthermore, color but not determiner errors led to larger P600 amplitudes compared to
    correct color trials. Color errors also showed enhanced P600 amplitudes compared to determiner errors.
    Taken together, processing erroneous network descriptions elicits different brain potentials than listening to
    the corresponding correct utterances. Hence, speech is monitored for errors not only during speech
    production but also during listening to the naturally occurring speech of others.
  • Ganushchak, L. Y., Krott, A., & Meyer, A. S. (2010). Is it a letter? Is it a number? Processing of numbers within SMS shortcuts. Psychonomic Bulletin & Review, 17, 101-105. doi:10.3758/PBR.17.1.101.

    Abstract

    For efficiency reasons, words in electronic messages are sometimes formed by combining letters with numbers, as in gr8 for “great.” The aim of this study was to investigate whether a digit incorporated into a letter—digit shortcut would retain its numerosity. A priming paradigm was used with letter—digit shortcuts (e.g., gr8) and matched pseudoshortcuts (e.g., qr8) as primes. The primes were presented simultaneously with sets of dots (targets) for which even/odd decisions were required, or they appeared 250 msec before target onset. When pseudoshortcuts were presented, decision latencies were shorter when the target and the digit in the prime were matched in parity than when they were mismatched. This main effect of match was not significant for shortcuts. The results suggest that the number concepts of digits combined with letters become activated but are quickly suppressed or deactivated when the digit is part of an existing shortcut.
  • Ganushchak, L. Y., & Schiller, N. O. (2009). Speaking in one’s second language under time pressure: An ERP study on verbal self-monitoring in German-Dutch bilinguals. Psychophysiology, 46, 410-419. doi:10.1111/j.1469-8986.2008.00774.x.

    Abstract

    This study addresses how verbal self-monitoring and the Error-Related Negativity (ERN) are affected by time pressure
    when a task is performed in a second language as opposed to performance in the native language. German–Dutch
    bilinguals were required to perform a phoneme-monitoring task in Dutch with and without a time pressure manipulation.
    We obtained an ERN following verbal errors that showed an atypical increase in amplitude under time
    pressure. This finding is taken to suggest that under time pressure participants had more interference from their native
    language, which in turn led to a greater response conflict and thus enhancement of the amplitude of the ERN. This
    result demonstrates once more that the ERN is sensitive to psycholinguistic manipulations and suggests that the
    functioning of the verbal self-monitoring systemduring speaking is comparable to other performance monitoring, such
    as action monitoring.
  • Ganushchak, L., Konopka, A. E., & Chen, Y. (2014). What the eyes say about planning of focused referents during sentence formulation: a cross-linguistic investigation. Frontiers in Psychology, 5: 1124. doi:10.3389/fpsyg.2014.01124.

    Abstract

    This study investigated how sentence formulation is influenced by a preceding discourse context. In two eye-tracking experiments, participants described pictures of two-character transitive events in Dutch (Experiment 1) and Chinese (Experiment 2). Focus was manipulated by presenting questions before each picture. In the Neutral condition, participants first heard ‘What is happening here?’ In the Object or Subject Focus conditions, the questions asked about the Object or Subject character (What is the policeman stopping? Who is stopping the truck?). The target response was the same in all conditions (The policeman is stopping the truck). In both experiments, sentence formulation in the Neutral condition showed the expected pattern of speakers fixating the subject character (policeman) before the object character (truck). In contrast, in the focus conditions speakers rapidly directed their gaze preferentially only to the character they needed to encode to answer the question (the new, or focused, character). The timing of gaze shifts to the new character varied by language group (Dutch vs. Chinese): shifts to the new character occurred earlier when information in the question can be repeated in the response with the same syntactic structure (in Chinese but not in Dutch). The results show that discourse affects the timecourse of linguistic formulation in simple sentences and that these effects can be modulated by language-specific linguistic structures such as parallels in the syntax of questions and declarative sentences.
  • Ganushchak, L. Y., & Acheson, D. J. (Eds.). (2014). What's to be learned from speaking aloud? - Advances in the neurophysiological measurement of overt language production. [Research topic] [Special Issue]. Frontiers in Language Sciences. Retrieved from http://www.frontiersin.org/Language_Sciences/researchtopics/What_s_to_be_Learned_from_Spea/1671.

    Abstract

    Researchers have long avoided neurophysiological experiments of overt speech production due to the suspicion that artifacts caused by muscle activity may lead to a bad signal-to-noise ratio in the measurements. However, the need to actually produce speech may influence earlier processing and qualitatively change speech production processes and what we can infer from neurophysiological measures thereof. Recently, however, overt speech has been successfully investigated using EEG, MEG, and fMRI. The aim of this Research Topic is to draw together recent research on the neurophysiological basis of language production, with the aim of developing and extending theoretical accounts of the language production process. In this Research Topic of Frontiers in Language Sciences, we invite both experimental and review papers, as well as those about the latest methods in acquisition and analysis of overt language production data. All aspects of language production are welcome: i.e., from conceptualization to articulation during native as well as multilingual language production. Focus should be placed on using the neurophysiological data to inform questions about the processing stages of language production. In addition, emphasis should be placed on the extent to which the identified components of the electrophysiological signal (e.g., ERP/ERF, neuronal oscillations, etc.), brain areas or networks are related to language comprehension and other cognitive domains. By bringing together electrophysiological and neuroimaging evidence on language production mechanisms, a more complete picture of the locus of language production processes and their temporal and neurophysiological signatures will emerge.
  • Garrido, L., Eisner, F., McGettigan, C., Stewart, L., Sauter, D., Hanley, J. R., Schweinberger, S. R., Warren, J. D., & Duchaine, B. (2009). Developmental phonagnosia: A selective deficit of vocal identity recognition. Neuropsychologia, 47(1), 123-131. doi:10.1016/j.neuropsychologia.2008.08.003.

    Abstract

    Phonagnosia, the inability to recognize familiar voices, has been studied in brain-damaged patients but no cases due to developmental problems have been reported. Here we describe the case of KH, a 60-year-old active professional woman who reports that she has always experienced severe voice recognition difficulties. Her hearing abilities are normal, and an MRI scan showed no evidence of brain damage in regions associated with voice or auditory perception. To better understand her condition and to assess models of voice and high-level auditory processing, we tested KH on behavioural tasks measuring voice recognition, recognition of vocal emotions, face recognition, speech perception, and processing of environmental sounds and music. KH was impaired on tasks requiring the recognition of famous voices and the learning and recognition of new voices. In contrast, she performed well on nearly all other tasks. Her case is the first report of developmental phonagnosia, and the results suggest that the recognition of a speaker’s vocal identity depends on separable mechanisms from those used to recognize other information from the voice or non-vocal auditory stimuli.
  • Gaskell, M. G., Warker, J., Lindsay, S., Frost, R. L. A., Guest, J., Snowdon, R., & Stackhouse, A. (2014). Sleep Underpins the Plasticity of Language Production. Psychological Science, 25(7), 1457-1465. doi:10.1177/0956797614535937.

    Abstract

    The constraints that govern acceptable phoneme combinations in speech perception and production have considerable plasticity. We addressed whether sleep influences the acquisition of new constraints and their integration into the speech-production system. Participants repeated sequences of syllables in which two phonemes were artificially restricted to syllable onset or syllable coda, depending on the vowel in that sequence. After 48 sequences, participants either had a 90-min nap or remained awake. Participants then repeated 96 sequences so implicit constraint learning could be examined, and then were tested for constraint generalization in a forced-choice task. The sleep group, but not the wake group, produced speech errors at test that were consistent with restrictions on the placement of phonemes in training. Furthermore, only the sleep group generalized their learning to new materials. Polysomnography data showed that implicit constraint learning was associated with slow-wave sleep. These results show that sleep facilitates the integration of new linguistic knowledge with existing production constraints. These data have relevance for systems-consolidation models of sleep.

    Additional information

    https://osf.io/zqg9y/
  • Gaub, S., Groszer, M., Fisher, S. E., & Ehret, G. (2010). The structure of innate vocalizations in Foxp2-deficient mouse pups. Genes, Brain and Behavior, 9, 390-401. doi:10.1111/j.1601-183X.2010.00570.x.

    Abstract

    Heterozygous mutations of the human FOXP2 gene are implicated in a severe speech and language disorder. Aetiological mutations of murine Foxp2 yield abnormal synaptic plasticity and impaired motor-skill learning in mutant mice, while knockdown of the avian orthologue in songbirds interferes with auditory-guided vocal learning. Here, we investigate influences of two distinct Foxp2 point mutations on vocalizations of 4-day-old mouse pups (Mus musculus). The R552H missense mutation is identical to that causing speech and language deficits in a large well-studied human family, while the S321X nonsense mutation represents a null allele that does not produce Foxp2 protein. We ask whether vocalizations, based solely on innate mechanisms of production, are affected by these alternative Foxp2 mutations. Sound recordings were taken in two different situations: isolation and distress, eliciting a range of call types, including broadband vocalizations of varying noise content, ultrasonic whistles and clicks. Sound production rates and several acoustic parameters showed that, despite absence of functional Foxp2, homozygous mutants could vocalize all types of sounds in a normal temporal pattern, but only at comparably low intensities. We suggest that altered vocal output of these homozygotes may be secondary to developmental delays and somatic weakness. Heterozygous mutants did not differ from wild-types in any of the measures that we studied (R552H ) or in only a few (S321X ), which were in the range of differences routinely observed for different mouse strains. Thus, Foxp2 is not essential for the innate production of emotional vocalizations with largely normal acoustic properties by mouse pups.
  • 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.
  • Gazendam, L., Wartena, C., Malaise, V., Schreiber, G., De Jong, A., & Brugman, H. (2009). Automatic annotation suggestions for audiovisual archives: Evaluation aspects. Interdisciplinary Science Reviews, 34(2/3), 172-188. doi:10.1179/174327909X441090.

    Abstract

    In the context of large and ever growing archives, generating annotation suggestions automatically from textual resources related to the documents to be archived is an interesting option in theory. It could save a lot of work in the time consuming and expensive task of manual annotation and it could help cataloguers attain a higher inter-annotator agreement. However, some questions arise in practice: what is the quality of the automatically produced annotations? How do they compare with manual annotations and with the requirements for annotation that were defined in the archive? If different from the manual annotations, are the automatic annotations wrong? In the CHOICE project, partially hosted at the Netherlands Institute for Sound and Vision, the Dutch public archive for audiovisual broadcasts, we automatically generate annotation suggestions for cataloguers. In this paper, we define three types of evaluation of these annotation suggestions: (1) a classic and strict evaluation measure expressing the overlap between automatically generated keywords and the manual annotations, (2) a loosened evaluation measure for which semantically very similar annotations are also considered as relevant matches, and (3) an in-use evaluation of the usefulness of manual versus automatic annotations in the context of serendipitous browsing. During serendipitous browsing, the annotations (manual or automatic) are used to retrieve and visualize semantically related documents.
  • 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.
  • Geurts, H. M., Broeders, m., & Nieuwland, M. S. (2010). Thinking outside the executive functions box: Theory of mind and pragmatic abilities in attention deficit/hyperactivity disorder. European Journal of Developmental Psychology, 7(1), 135-151. doi:10.1080/17405620902906965.

    Abstract

    An endophenotype for attention deficit/hyperactivity disorder (AD/HD) is executive functioning. In the autism and developmental literature executive dysfunctions has also been linked to theory of mind (ToM) and pragmatic language use. The central question of this review is whether deficits in ToM and pragmatic language use are common in AD/HD. AD/HD seems to be associated with pragmatic deficits, but not with ToM deficits. In this review we address how this pattern of findings might facilitate the understanding of the commonalities and differences between executive functioning, ToM, and pragmatic abilities. Based on the reviewed studies we conclude that ToM is not likely to be a potential endophenotype for AD/HD, while it is too early to draw such a conclusion for pragmatic language use.
  • 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., Newbury, D. F., Wilcutt, E. G., Olson, R. K., DeFries, J. C., Brandler, W. M., Pennington, B. F., Smith, S. D., Scerri, T. S., Simpson, N. H., The SLI Consortium, Luciano, M., Evans, D. M., Bates, T. C., Stein, J. F., Talcott, J. B., Monaco, A. P., Paracchini, S., Francks, C., & Fisher, S. E. (2014). Genome-wide screening for DNA variants associated with reading and language traits. Genes, Brain and Behavior, 13, 686-701. doi:10.1111/gbb.12158.

    Abstract

    Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a Genome-wide Association Scan (GWAS) meta-analysis using three richly characterised datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading- and language-related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected p≈10−7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on-going international efforts to identify genes contributing to reading and language skills.
  • 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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